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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ENSG00000206306 Gene

protein-coding   GIFtS: 17
GCID: GC06Mn32480          (predicted)

ENSG00000206306


  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
DR-123     DRw113
DR-133     DRw83
DR-143     Clone P2-Beta-33
DR-53     MHC Class II Antigen DRB1*113
DR-83     MHC Class II Antigen DRB1*123
DR123     MHC Class II Antigen DRB1*133
DR133     MHC Class II Antigen DRB1*143
DR143     MHC Class II Antigen DRB1*33
DR53     MHC Class II Antigen DRB1*83
DR83     

External Ids:    Ensembl: ENSG000002063067   UniProtKB: Q5Y7A73   UniProtKB: Q301343   UniProtKB: Q9GIY33   UniProtKB: P200393   
UniProtKB: Q95IE33   UniProtKB: P019123   

Export aliases for ENSG00000206306 gene to outside databases

Previous GC identifer: GC06Mf32625


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for ENSG00000206306 Gene: 
ENSG00000206306 is a protein-coding gene. Diseases associated with ENSG00000206306 include juvenile rheumatoid arthritis, and hepatitis c.

UniProtKB/Swiss-Prot: 2B13_HUMAN, P01912
Function: Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC)
and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates
peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation
of proteins that access the endocytic route; where they are processed by lysosomal proteases and other
hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for presentation
via MHC II molecules; and for this reason this antigen presentation pathway is usually referred to as exogenous.
As membrane proteins on their way to degradation in lysosomes as part of their normal turn-over are also
contained in the endosomal/lysosomal compartments; exogenous antigens must compete with those derived from
endogenous components. Autophagy is also a source of endogenous peptides; autophagosomes constitutively fuse with
MHC class II loading compartments. In addition to APCs; other cells of the gastrointestinal tract; such as
epithelial cells; express MHC class II molecules and CD74 and act as APCs; which is an unusual trait of the GI
tract. To produce a MHC class II molecule that presents an antigen; three MHC class II molecules (heterodimers of
an alpha and a beta chain) associate with a CD74 trimer in the ER to form a heterononamer. Soon after the entry
of this complex into the endosomal/lysosomal system where antigen processing occurs; CD74 undergoes a sequential
degradation by various proteases; including CTSS and CTSL; leaving a small fragment termed CLIP
(class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DM via direct binding to
the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II molecules until primary high
affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transported to the cell
membrane surface. In B-cells; the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO.
Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal miroenvironment has been implicated in the
regulation of antigen loading into MHC II molecules; increased acidification produces increased proteolysis and
efficient peptide loading




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for ENSG00000206306
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for ENSG00000206306

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ENSG00000206306


Genomic Location:
Chromosome:6   

Ensembl cytogenetic band:  HSCHR6_MHC_QBLp21.32   

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06Mn32480:       (about GC identifiers)

Start:
32,481,203 bp from pter      End:
32,511,820 bp from pter
Size:
30,618 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: 2B1D_HUMAN, Q5Y7A7 (See protein sequence)
Recommended Name: HLA class II histocompatibility antigen, DRB1-13 beta chain precursor  
Size: 266 amino acids; 30008 Da
Subunit: Heterodimer of an alpha and a beta subunit; also referred as MHC class II molecule. In the endoplasmic
reticulum (ER) it forms a heterononamer; 3 MHC class II molecules bind to a CD74 homotrimer (also known as
invariant chain or HLA class II histocompatibility antigen gamma chain). In the endosomal/lysosomal system; CD74
undergoes sequential degradation by various proteases; leaving a small fragment termed CLIP on each MHC class II
molecule. MHC class II molecule interacts with HLA_DM, and HLA_DO in B-cells, in order to release CLIP and
facilitate the binding of antigenic peptides
Subcellular location: Cell membrane; Single-pass type I membrane protein. Endoplasmic reticulum membrane;
Single-pass type I membrane protein. Golgi apparatus, trans-Golgi network membrane; Single-pass type I membrane
protein. Endosome membrane; Single-pass type I membrane protein. Lysosome membrane; Single-pass type I membrane
protein. Late endosome membrane; Single-pass type I membrane protein. Note=The MHC class II complex transits
through a number of intracellular compartments in the endocytic pathway until it reaches the cell membrane for
antigen presentation
Sequence caution: Sequence=CAB40418.1; Type=Erroneous gene model prediction;
Secondary accessions: A0MWF2 A2ICT1 A4ZXA5 A4ZXA6 A7UHG2 A7X5K7 A8YQE9 B0BK85 B3VTQ3 B5A8Y2
B5A8Y3 B5B9V6 B5QSK8 C0LAB5 O02930 O62889 O78047 P79545 Q14280 Q14QT2 Q19K86 Q1G0Z9 Q1KLJ6
Q29673 Q29720 Q29722 Q29806 Q29833 Q29874 Q29886 Q2MF40 Q2YHQ2 Q30112 Q3LA93 Q3LA94 Q3LA95
Q3LA96 Q3LA97 Q3LA98 Q3LA99 Q3LAA0 Q3LAA1 Q3LAA2 Q3MQ60 Q53IG1 Q56FP2 Q56FP3 Q58F52 Q5K3W2
Q5UBA2 Q5W3L4 Q6REE2 Q6U387 Q701T1 Q70Q85 Q768U2 Q7YP03 Q7YQ26 Q7YQA3 Q860E5 Q860H8 Q860Z3
Q861G6 Q861H0 Q861H4 Q8HWQ6 Q8WMA0 Q95389 Q95HL1 Q96HZ9 Q9BCP5 Q9BD21 Q9GIP3 Q9GJ25 Q9GJ60
Q9GJF8 Q9GJF9 Q9GJG0 Q9MY45 Q9MY56 Q9TPW3 Q9TPW9 Q9TPX4 Q9UBY1 Q9UIN0 Q9XRX1 Q9Y453

UniProtKB/Swiss-Prot: 2B18_HUMAN, Q30134 (See protein sequence)

Recommended Name: HLA class II histocompatibility antigen, DRB1-8 beta chain precursor  
Size: 266 amino acids; 30004 Da
Subunit: Heterodimer of an alpha and a beta subunit; also referred as MHC class II molecule. In the endoplasmic
reticulum (ER) it forms a heterononamer; 3 MHC class II molecules bind to a CD74 homotrimer (also known as
invariant chain or HLA class II histocompatibility antigen gamma chain). In the endosomal/lysosomal system; CD74
undergoes sequential degradation by various proteases; leaving a small fragment termed CLIP on each MHC class II
molecule. MHC class II molecule interacts with HLA_DM, and HLA_DO in B-cells, in order to release CLIP and
facilitate the binding of antigenic peptides
Subcellular location: Cell membrane; Single-pass type I membrane protein. Endoplasmic reticulum membrane;
Single-pass type I membrane protein. Golgi apparatus, trans-Golgi network membrane; Single-pass type I membrane
protein. Endosome membrane; Single-pass type I membrane protein. Lysosome membrane; Single-pass type I membrane
protein. Late endosome membrane; Single-pass type I membrane protein. Note=The MHC class II complex transits
through a number of intracellular compartments in the endocytic pathway until it reaches the cell membrane for
antigen presentation
Secondary accessions: O19718 O19788 Q29968 Q30108 Q30115 Q9BCP0 Q9BCP1 Q9BCP2 Q9BD33 Q9TQ37
Q9UIM9

UniProtKB/Swiss-Prot: 2B1E_HUMAN, Q9GIY3 (See protein sequence)

Recommended Name: HLA class II histocompatibility antigen, DRB1-14 beta chain precursor  
Size: 266 amino acids; 30139 Da
Subunit: Heterodimer of an alpha and a beta subunit; also referred as MHC class II molecule. In the endoplasmic
reticulum (ER) it forms a heterononamer; 3 MHC class II molecules bind to a CD74 homotrimer (also known as
invariant chain or HLA class II histocompatibility antigen gamma chain). In the endosomal/lysosomal system; CD74
undergoes sequential degradation by various proteases; leaving a small fragment termed CLIP on each MHC class II
molecule. MHC class II molecule interacts with HLA_DM, and HLA_DO in B-cells, in order to release CLIP and
facilitate the binding of antigenic peptides
Subcellular location: Cell membrane; Single-pass type I membrane protein. Endoplasmic reticulum membrane;
Single-pass type I membrane protein. Golgi apparatus, trans-Golgi network membrane; Single-pass type I membrane
protein. Endosome membrane; Single-pass type I membrane protein. Lysosome membrane; Single-pass type I membrane
protein. Late endosome membrane; Single-pass type I membrane protein. Note=The MHC class II complex transits
through a number of intracellular compartments in the endocytic pathway until it reaches the cell membrane for
antigen presentation
Sequence caution: Sequence=CAB45249.1; Type=Erroneous gene model prediction;
Secondary accessions: A0N0W1 A2TGX3 A4ZY86 A5H000 A5HKN8 A7DZP9 A7X5B1 A7X5B7 A7X5E0 A7X5E6
A7X5H8 A9JPG0 B1GWE7 B2CR03 B2LVF9 B2NJ29 B2ZCY1 B3VTP8 B5B8U0 B5B9V5 B5LZ25 B6VEL9 B9VRA4
B9X248 O02876 O46793 O77969 O78210 Q0PQ39 Q155F7 Q1AP33 Q1JRP3 Q27PR6 Q27PR7 Q29734 Q29770
Q29772 Q29800 Q2A120 Q2HZE5 Q2LE76 Q2MJA6 Q2VQU1 Q307W5 Q31636 Q3LA87 Q3LA88 Q3LA89 Q3LA90
Q3LA91 Q3LA92 Q3T919 Q4PRC3 Q4PRC5 Q4VZY7 Q56FP1 Q5BM92 Q5U9W6 Q683P7 Q70GL2 Q7YNY9 Q7YQA5
Q860D8 Q860D9 Q860S0 Q861H5 Q861H7 Q8MH59 Q8MH60 Q8WLU3 Q95348 Q95HK1 Q95HL0 Q95IG2 Q9GIL5
Q9GIL6 Q9GIY0 Q9GIY1 Q9GIY2 Q9GJ56 Q9GJ57 Q9GJ58 Q9TPB6 Q9TPW1 Q9XRY4 Q9Y4H7

UniProtKB/Swiss-Prot: 2B1B_HUMAN, P20039 (See protein sequence)

Recommended Name: HLA class II histocompatibility antigen, DRB1-11 beta chain precursor  
Size: 266 amino acids; 30160 Da
Subunit: Heterodimer of an alpha and a beta subunit; also referred as MHC class II molecule. In the endoplasmic
reticulum (ER) it forms a heterononamer; 3 MHC class II molecules bind to a CD74 homotrimer (also known as
invariant chain or HLA class II histocompatibility antigen gamma chain). In the endosomal/lysosomal system; CD74
undergoes sequential degradation by various proteases; leaving a small fragment termed CLIP on each MHC class II
molecule. MHC class II molecule interacts with HLA_DM, and HLA_DO in B-cells, in order to release CLIP and
facilitate the binding of antigenic peptides
Subcellular location: Cell membrane; Single-pass type I membrane protein. Endoplasmic reticulum membrane;
Single-pass type I membrane protein. Golgi apparatus, trans-Golgi network membrane; Single-pass type I membrane
protein. Endosome membrane; Single-pass type I membrane protein. Lysosome membrane; Single-pass type I membrane
protein. Late endosome membrane; Single-pass type I membrane protein. Note=The MHC class II complex transits
through a number of intracellular compartments in the endocytic pathway until it reaches the cell membrane for
antigen presentation
Secondary accessions: Q30006 Q9GIX8

UniProtKB/Swiss-Prot: 2B1C_HUMAN, Q95IE3 (See protein sequence)

Recommended Name: HLA class II histocompatibility antigen, DRB1-12 beta chain precursor  
Size: 266 amino acids; 29878 Da
Subunit: Heterodimer of an alpha and a beta subunit; also referred as MHC class II molecule. In the endoplasmic
reticulum (ER) it forms a heterononamer; 3 MHC class II molecules bind to a CD74 homotrimer (also known as
invariant chain or HLA class II histocompatibility antigen gamma chain). In the endosomal/lysosomal system; CD74
undergoes sequential degradation by various proteases; leaving a small fragment termed CLIP on each MHC class II
molecule. MHC class II molecule interacts with HLA_DM, and HLA_DO in B-cells, in order to release CLIP and
facilitate the binding of antigenic peptides
Subcellular location: Cell membrane; Single-pass type I membrane protein. Endoplasmic reticulum membrane;
Single-pass type I membrane protein. Golgi apparatus, trans-Golgi network membrane; Single-pass type I membrane
protein. Endosome membrane; Single-pass type I membrane protein. Lysosome membrane; Single-pass type I membrane
protein. Late endosome membrane; Single-pass type I membrane protein. Note=The MHC class II complex transits
through a number of intracellular compartments in the endocytic pathway until it reaches the cell membrane for
antigen presentation
Secondary accessions: A7LA26 B0LUZ6 B6VCX2 B7UDB2 O19585 Q19AF2 Q29771 Q2L9H4 Q2MZ92 Q5EER6
Q5NDB9 Q5UT58 Q5Y7G0 Q768U4 Q7YP04 Q861H8 Q95IT6 Q9BD40

UniProtKB/Swiss-Prot: 2B13_HUMAN, P01912 (See protein sequence)

Recommended Name: HLA class II histocompatibility antigen, DRB1-3 chain precursor  
Size: 266 amino acids; 30120 Da
Subunit: Heterodimer of an alpha and a beta subunit; also referred as MHC class II molecule. In the endoplasmic
reticulum (ER) it forms a heterononamer; 3 MHC class II molecules bind to a CD74 homotrimer (also known as
invariant chain or HLA class II histocompatibility antigen gamma chain). In the endosomal/lysosomal system; CD74
undergoes sequential degradation by various proteases; leaving a small fragment termed CLIP on each MHC class II
molecule. MHC class II molecule interacts with HLA_DM, and HLA_DO in B-cells, in order to release CLIP and
facilitate the binding of antigenic peptides
Subcellular location: Cell membrane; Single-pass type I membrane protein. Endoplasmic reticulum membrane;
Single-pass type I membrane protein. Golgi apparatus, trans-Golgi network membrane; Single-pass type I membrane
protein. Endosome membrane; Single-pass type I membrane protein. Lysosome membrane; Single-pass type I membrane
protein. Late endosome membrane; Single-pass type I membrane protein. Note=The MHC class II complex transits
through a number of intracellular compartments in the endocytic pathway until it reaches the cell membrane for
antigen presentation
1 PDB 3D structure from and Proteopedia for ENSG00000206306:
1A6A (3D)    

Explore the universe of human proteins at neXtProt for ENSG00000206306: NX_P01912

Explore proteomics data for ENSG00000206306 at MOPED 

Post-translational modifications:

  • UniProtKB: Ubiquitinated by MARCH1 and MARCH8 at Lys-254 leading to sorting into the endosome system and down-regulation of
    MHC class II (Probable)
  • View neXtProt modification sites for NX_P01912

  • ENSG00000206306 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ENSG00000206306 Protein Expression

    ENSEMBL proteins: 
     ENSP00000331343   ENSP00000412168  
    Reactome Protein details: Q95IE3 P01912 Q5Y7A7 Q9GIY3 Q30134 P20039
    Human Recombinant Protein Products for ENSG00000206306: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for ENSG00000206306
    GenScript Custom Purified and Recombinant Proteins Services for ENSG00000206306
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/13 cellular component terms (GO ID links to tree view) (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane ----
    GO:0005765lysosomal membrane ----
    GO:0005886plasma membrane ----
    GO:0005887integral to plasma membrane ----
    GO:0012507ER to Golgi transport vesicle membrane ----

    ENSG00000206306 for ontologies           About GeneDecksing



    ENSG00000206306 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of ENSG00000206306
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for ENSG00000206306
    GenScript Custom Superior Antibodies Services for ENSG00000206306
    Abcam antibodies for ENSG00000206306 (Q30134, P20039)
    Browse Antibodies at Cloud-Clone Corp. 
    Search ThermoFisher Antibodies for ENSG00000206306
    Search LSBio for Antibodies for ENSG00000206306 

    Assay Products for ENSG00000206306: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for ENSG00000206306
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for ENSG00000206306
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp. 
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/7 InterPro protein domains (see all 7):
     IPR007110 Ig-like_dom
     IPR003006 Ig/MHC_CS
     IPR011162 MHC_I/II-like_Ag-recog
     IPR000353 MHC_II_b_N
     IPR013783 Ig-like_fold

    Graphical View of Domain Structure for InterPro Entry Q5Y7A7
    Graphical View of Domain Structure for InterPro Entry Q30134
    Graphical View of Domain Structure for InterPro Entry Q9GIY3
    Graphical View of Domain Structure for InterPro Entry P20039
    Graphical View of Domain Structure for InterPro Entry Q95IE3
    Graphical View of Domain Structure for InterPro Entry P01912

    ProtoNet protein and cluster: Q5Y7A7

    2 Blocks protein domains:
    IPB000353 Class II histocompatibility antigen
    IPB003597 Immunoglobulin C-type


    UniProtKB/Swiss-Prot: 2B1D_HUMAN, Q5Y7A7
    Similarity: Belongs to the MHC class II family
    Similarity: Contains 1 Ig-like C1-type (immunoglobulin-like) domain

    UniProtKB/Swiss-Prot: 2B18_HUMAN, Q30134
    Similarity: Belongs to the MHC class II family
    Similarity: Contains 1 Ig-like C1-type (immunoglobulin-like) domain

    UniProtKB/Swiss-Prot: 2B1E_HUMAN, Q9GIY3
    Similarity: Belongs to the MHC class II family
    Similarity: Contains 1 Ig-like C1-type (immunoglobulin-like) domain

    UniProtKB/Swiss-Prot: 2B1B_HUMAN, P20039
    Similarity: Belongs to the MHC class II family
    Similarity: Contains 1 Ig-like C1-type (immunoglobulin-like) domain

    UniProtKB/Swiss-Prot: 2B1C_HUMAN, Q95IE3
    Similarity: Belongs to the MHC class II family
    Similarity: Contains 1 Ig-like C1-type (immunoglobulin-like) domain

    UniProtKB/Swiss-Prot: 2B13_HUMAN, P01912
    Similarity: Belongs to the MHC class II family
    Similarity: Contains 1 Ig-like C1-type (immunoglobulin-like) domain


    ENSG00000206306 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:
    UniProtKB/Swiss-Prot Summary: 2B1D_HUMAN, Q5Y7A7 (see all)
    Function: Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC)
    and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates
    peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation
    of proteins that access the endocytic route, where they are processed by lysosomal proteases and other
    hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for presentation
    via MHC II molecules, and for this reason this antigen presentation pathway is usually referred to as exogenous.
    As membrane proteins on their way to degradation in lysosomes as part of their normal turn-over are also
    contained in the endosomal/lysosomal compartments, exogenous antigens must compete with those derived from
    endogenous components. Autophagy is also a source of endogenous peptides, autophagosomes constitutively fuse with
    MHC class II loading compartments. In addition to APCs, other cells of the gastrointestinal tract, such as
    epithelial cells, express MHC class II molecules and CD74 and act as APCs, which is an unusual trait of the GI
    tract. To produce a MHC class II molecule that presents an antigen, three MHC class II molecules (heterodimers of
    an alpha and a beta chain) associate with a CD74 trimer in the ER to form a heterononamer. Soon after the entry
    of this complex into the endosomal/lysosomal system where antigen processing occurs, CD74 undergoes a sequential
    degradation by various proteases, including CTSS and CTSL, leaving a small fragment termed CLIP
    (class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DM via direct binding to
    the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II molecules until primary high
    affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transported to the cell
    membrane surface. In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO.
    Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal miroenvironment has been implicated in the
    regulation of antigen loading into MHC II molecules, increased acidification produces increased proteolysis and
    efficient peptide loading

         UniProtKB/Swiss-Prot: 2B13_HUMAN, P01912
    Function: Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC)
    and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates
    peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation
    of proteins that access the endocytic route; where they are processed by lysosomal proteases and other
    hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for presentation
    via MHC II molecules; and for this reason this antigen presentation pathway is usually referred to as exogenous.
    As membrane proteins on their way to degradation in lysosomes as part of their normal turn-over are also
    contained in the endosomal/lysosomal compartments; exogenous antigens must compete with those derived from
    endogenous components. Autophagy is also a source of endogenous peptides; autophagosomes constitutively fuse with
    MHC class II loading compartments. In addition to APCs; other cells of the gastrointestinal tract; such as
    epithelial cells; express MHC class II molecules and CD74 and act as APCs; which is an unusual trait of the GI
    tract. To produce a MHC class II molecule that presents an antigen; three MHC class II molecules (heterodimers of
    an alpha and a beta chain) associate with a CD74 trimer in the ER to form a heterononamer. Soon after the entry
    of this complex into the endosomal/lysosomal system where antigen processing occurs; CD74 undergoes a sequential
    degradation by various proteases; including CTSS and CTSL; leaving a small fragment termed CLIP
    (class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DM via direct binding to
    the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II molecules until primary high
    affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transported to the cell
    membrane surface. In B-cells; the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO.
    Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal miroenvironment has been implicated in the
    regulation of antigen loading into MHC II molecules; increased acidification produces increased proteolysis and
    efficient peptide loading

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0032395MHC class II receptor activity ----
         
    ENSG00000206306 for ontologies           About GeneDecksing


    Animal Models:
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       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ENSG00000206306

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ENSG00000206306 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ENSG00000206306 

    miRNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    Pathways by sourceSee SuperPaths
    Show all pathways


    5/13        Reactome Pathways for ENSG00000206306 (see all 13)
        Interferon gamma signaling
    Costimulation by the CD28 family
    Cytokine Signaling in Immune system
    Adaptive Immune System
    Translocation of ZAP-70 to Immunological synapse



    ENSG00000206306 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ENSG00000206306

    5/8 Interacting proteins for ENSG00000206306 (P019122, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000206308P019032MINT-24910
    ENSG00000226260P019032MINT-24910
    ENSG00000227993P019032MINT-24910
    ENSG00000228987P019032MINT-24910
    ENSG00000230726P019032MINT-24910
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002381immunoglobulin production involved in immunoglobulin mediated immune response ----
    GO:0002455humoral immune response mediated by circulating immunoglobulin ----
    GO:0006955immune response ----
    GO:0019221cytokine-mediated signaling pathway ----
    GO:0019882antigen processing and presentation ----

    ENSG00000206306 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for ENSG00000206306 (2B13)

    Search CenterWatch for drugs/clinical trials and news about ENSG00000206306 / 2B13

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000328980(uc021zuy.1 uc011ixc.1 uc021zuz.1 uc011ixe.1)
    ENST00000415796
    miRNA
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    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ENSG00000206306 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    ENSG00000206306 Expression
    About this image


    See ENSG00000206306 Protein Expression from SPIRE MOPED and PaxDB    SABiosciences Custom PCR Arrays for ENSG00000206306
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
      --

    ENSEMBL Gene Tree for ENSG00000206306 (if available)
    TreeFam Gene Tree for ENSG00000206306 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    UniProtKB/Swiss-Prot: 2B13_HUMAN, P01912
    Polymorphism: The following alleles of DRB1-13 are known: DRB1*13:01, DRB1*13:02, DRB1*13:03, DRB1*13:04,
    DRB1*13:05, DRB1*13:06, DRB1*13:07, DRB1*13:08, DRB1*13:09, DRB1*13:10, DRB1*13:11, DRB1*13:12, DRB1*13:13,
    DRB1*13:14, DRB1*13:15, DRB1*13:16, DRB1*13:17, DRB1*13:18, DRB1*13:19, DRB1*13:20, DRB1*13:21, DRB1*13:22,
    DRB1*13:23, DRB1*13:24, DRB1*13:25, DRB1*13:26, DRB1*13:27, DRB1*13:28, DRB1*13:29, DRB1*13:30, DRB1*13:31,
    DRB1*13:32, DRB1*13:33, DRB1*13:34, DRB1*13:35, DRB1*13:36, DRB1*13:37, DRB1*13:38, DRB1*13:39, DRB1*13:40,
    DRB1*13:41, DRB1*13:42, DRB1*13:43, DRB1*13:44, DRB1*13:45, DRB1*13:46, DRB1*13:47, DRB1*13:48, DRB1*13:49,
    DRB1*13:50, DRB1*13:51, DRB1*13:52, DRB1*13:53, DRB1*13:54, DRB1*13:55, DRB1*13:56, DRB1*13:57, DRB1*13:58,
    DRB1*13:59, DRB1*13:60, DRB1*13:61, DRB1*13:62, DRB1*13:63, DRB1*13:64, DRB1*13:65, DRB1*13:66, DRB1*13:67,
    DRB1*13:68, DRB1*13:69, DRB1*13:70, DRB1*13:71, DRB1*13:72, DRB1*13:73, DRB1*13:74, DRB1*13:75, DRB1*13:76,
    DRB1*13:77, DRB1*13:78, DRB1*13:79, DRB1*13:80, DRB1*13:81, DRB1*13:82, DRB1*13:83, DRB1*13:84, DRB1*13:85,
    DRB1*13:86, DRB1*13:87 and DRB1*13:88. The sequence shown is that of DRB1*13:01
    Polymorphism: The following alleles of DRB1-8 are known: DRB1*08:01 (Dw8.1), DRB1*08:02 (Dw8.2; DRB1L), DRB1*08:03
    (Dw8.3); DRB1*08:04; DRB1*08:05, DRB1*08:06, DRB1*08:07, DRB1*08:08, DRB1*08:09, DRB1*08:10, DRB1*08:11,
    DRB1*08:12, DRB1*08:13, DRB1*08:14, DRB1*08:15, DRB1*08:16, DRB1*08:17, DRB1*08:18, DRB1*08:19, DRB1*08:20,
    DRB1*08:21, DRB1*08:22, DRB1*08:23, DRB1*08:24, DRB1*08:25, DRB1*08:26, DRB1*08:27, DRB1*08:28, DRB1*08:29,
    DRB1*08:30, DRB1*08:31, DRB1*08:32, DRB1*08:33, DRB1*08:34, DRB1*08:35 and DRB1*08:36. The sequence shown is that
    of DRB1*08:01
    Polymorphism: The following alleles of DRB1-14 are known: DRB1*14:01, DRB1*14:02, DRB1*14:03, DRB1*14:04,
    DRB1*14:05, DRB1*14:06, DRB1*14:07, DRB1*14:08, DRB1*14:09, DRB1*14:10, DRB1*14:11, DRB1*14:12, DRB1*14:13,
    DRB1*14:14, DRB1*14:15, DRB1*14:16, DRB1*14:17, DRB1*14:18, DRB1*14:19, DRB1*14:20, DRB1*14:21, DRB1*14:22,
    DRB1*14:23, DRB1*14:24, DRB1*14:25, DRB1*14:26, DRB1*14:27, DRB1*14:28, DRB1*14:29, DRB1*14:30, DRB1*14:31,
    DRB1*14:32, DRB1*14:33, DRB1*14:34, DRB1*14:35, DRB1*14:36, DRB1*14:37, DRB1*14:38, DRB1*14:39, DRB1*14:40,
    DRB1*14:41, DRB1*14:42, DRB1*14:43, DRB1*14:44, DRB1*14:45, DRB1*14:46, DRB1*14:47, DRB1*14:48, DRB1*14:49,
    DRB1*14:50, DRB1*14:51, DRB1*14:52, DRB1*14:53, DRB1*14:54, DRB1*14:55, DRB1*14:56, DRB1*14:57, DRB1*14:58,
    DRB1*14:59, DRB1*14:60, DRB1*14:61, DRB1*14:62, DRB1*14:63, DRB1*14:64, DRB1*14:65, DRB1*14:67, DRB1*14:68,
    DRB1*14:69, DRB1*14:70, DRB1*14:71, DRB1*14:72, DRB1*14:73, DRB1*14:74, DRB1*14:75, DRB1*14:76, DRB1*14:77,
    DRB1*14:78, DRB1*14:79, DRB1*14:80, DRB1*14:81, DRB1*14:82, DRB1*14:83, DRB1*14:84 and DRB1*14:85. The sequence
    shown is that of DRB1*14:01
    Polymorphism: The following alleles of DRB1-11 are known: DRB1*11:01, DRB1*11:03, DRB1*11:04, DRB1*11:05,
    DRB1*11:06, DRB1*11:07, DRB1*11:08, DRB1*11:09, DRB1*11:10, DRB1*11:11, DRB1*11:12, DRB1*11:13, DRB1*11:14,
    DRB1*11:15, DRB1*11:16, DRB1*11:17, DRB1*11:18, DRB1*11:19, DRB1*11:20, DRB1*11:21, DRB1*11:22, DRB1*11:23,
    DRB1*11:24, DRB1*11:25, DRB1*11:26, DRB1*11:27, DRB1*11:28, DRB1*11:29, DRB1*11:30, DRB1*11:31, DRB1*11:32,
    DRB1*11:33, DRB1*11:34, DRB1*11:35, DRB1*11:36, DRB1*11:37, DRB1*11:38, DRB1*11:39, DRB1*11:40, DRB1*11:41,
    DRB1*11:42, DRB1*11:43, DRB1*11:44, DRB1*11:45, DRB1*11:46, DRB1*11:47, DRB1*11:48, DRB1*11:49, DRB1*11:50,
    DRB1*11:51, DRB1*11:52, DRB1*11:53, DRB1*11:54, DRB1*11:55, DRB1*11:56, DRB1*11:57, DRB1*11:58, DRB1*11:59,
    DRB1*11:60, DRB1*11:61, DRB1*11:62, DRB1*11:63, DRB1*11:64, DRB1*11:65, DRB1*11:66, DRB1*11:67, DRB1*11:68,
    DRB1*11:69, DRB1*11:70 and DRB1*11:72. The sequence shown is that of DRB1*11:01
    Polymorphism: Allele DRB1*11:01 is associated with self-limiting hepatitis C virus (HCV) infections [MIM:609532]
    Polymorphism: The following alleles of DRB1-12 are known: DRB1*12:01, DRB1*12:02, DRB1*12:03, DRB1*12:04,
    DRB1*12:05, DRB1*12:06, DRB1*12:07, DRB1*12:08, DRB1*12:09, DRB1*12:10, DRB1*12:11, DRB1*12:12, DRB1*12:13,
    DRB1*12:14, DRB1*12:15, DRB1*12:16, DRB1*12:17, DRB1*12:18 and DRB1*12:19. The sequence shown is that of
    DRB1*12:01
    Polymorphism: The following alleles of DRB1-3 are known: DRB1*03:01; DRB1*03:02; DRB1*03:03; DRB1*03:04;
    DRB1*03:05; DRB1*03:06; DRB1*03:07; DRB1*03:08; DRB1*03:09; DRB1*03:10; DRB1*03:11; DRB1*03:12; DRB1*03:13;
    DRB1*03:14; DRB1*03:15; DRB1*03:16; DRB1*03:17; DRB1*03:18; DRB1*03:19; DRB1*03:20; DRB1*03:21; DRB1*03:22;
    DRB1*03:23; DRB1*03:24; DRB1*03:25; DRB1*03:26; DRB1*03:27; DRB1*03:28; DRB1*03:29; DRB1*03:30; DRB1*03:31;
    DRB1*03:32; DRB1*03:33; DRB1*03:34; DRB1*03:35; DRB1*03:36; DRB1*03:37; DRB1*03:38; DRB1*03:39; DRB1*03:40 and
    DRB1*03:41. The sequence shown is that of DRB1*03:01

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    5 diseases for ENSG00000206306:    About MalaCards
    juvenile rheumatoid arthritis    hepatitis c    rheumatoid arthritis    hepatitis
    arthritis


    ENSG00000206306 for disorders           About GeneDecksing


    Export disorders for ENSG00000206306 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ENSG00000206306 gene, integrated from 9 sources (see all 11):
    (articles sorted by number of sources associating them with ENSG00000206306)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. CD74 in antigen presentation, inflammation, and cancers of the gastrointestinal tract. (PubMed id 19533806)2 Beswick E.J. and Reyes V.E. (2009)
    2. Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry. (PubMed id 19159218)2 Chen R.... Zou H. (2009)
    3. MHC class II transport at a glance. (PubMed id 19092054)2 Berger A.C. and Roche P.A. (2009)
    4. MHC class II stabilization at the surface of human dendritic cells is the result of maturation-dependent MARCH I down-regulation. (PubMed id 18305173)2 De Gassart A....Gatti E. (2008)
    5. MHC class II molecules on the move for successful antigen presentation. (PubMed id 18046453)2 Rocha N. and Neefjes J. (2008)
    6. Autophagy in MHC class II presentation: sampling from within. (PubMed id 17241953)2 Menendez-Benito V. and Neefjes J. (2007)
    7. Presentation of antigens by MHC class II molecules: getting the most out of them. (PubMed id 11684289)2 Villadangos J.A. (2001)
    8. Invariant chain structure and MHC class II function. (PubMed id 8598037)2 Cresswell P. (1996)
    9. The structure of an intermediate in class II MHC maturation: CLIP bound to HLA-DR3. (PubMed id 7477400)2 Ghosh P.... Wiley D.C. (1995)
    10. Mutations and selection in the generation of class II histocompatibility antigen polymorphism. (PubMed id 6589154)2 Peterson P.A.... Rask L. (1984)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Ensembl:ENSG00000206306

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
      --

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ENSG00000206306 gene:
    Search GeneIP for patents involving ENSG00000206306

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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     inGenious Targeting Laboratory - Custom generated mouse model solutions for ENSG00000206306
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
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