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ENSG00000232062 Gene

protein-coding   GIFtS: 15
GCID: GC06Po32698          (predicted)

ENSG00000232062


  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)
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Aliases
DC-alpha3
HLA-DCA3
DC-1 Alpha Chain3
MHC Class II DQA13

External Ids:    Ensembl: ENSG000002320627   UniProtKB: P019093   

Export aliases for ENSG00000232062 gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for ENSG00000232062 Gene:
ENSG00000232062 is a protein-coding gene. Diseases associated with ENSG00000232062 include narcolepsy, and celiac disease.

UniProtKB/Swiss-Prot: DQA1_HUMAN, P01909
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 microenvironment 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Search for regulatory transcription factor binding sites for ENSG00000232062
         Other transcription factors

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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ENSG00000232062


Genomic Location:
Chromosome:6   

Ensembl cytogenetic band:  HSCHR6_MHC_SSTOp21.32   

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06Po32698:       (about GC identifiers)

Start:
32,697,728 bp from start of contig ALT_REF_LOCI_7      End:
32,726,026 bp from start of contig ALT_REF_LOCI_7
Size:
28,299 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: DQA1_HUMAN, P01909 (See protein sequence)
Recommended Name: HLA class II histocompatibility antigen, DQ alpha 1 chain precursor  
Size: 254 amino acids; 27805 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
Sequence caution: Sequence=AAD56720.1; Type=Erroneous gene model prediction;
6 PDB 3D structures from and Proteopedia for ENSG00000232062:
1JK8 (3D)        1NBN (3D)        1S9V (3D)        1UVQ (3D)        2NNA (3D)        4GG6 (3D)    
Secondary accessions: O19630 O19706 P01907 P01908 P04225 P04226 P05536 P79553 Q06751 Q29876
Q29994 Q2Q6Y6 Q2Q6Y7 Q2Q6Y8 Q2WCM3 Q30064 Q30067 Q30068 Q30070 Q30071 Q30072 Q30073 Q30086
Q30101 Q5Y7D5 Q5Y7F5 Q6ICU6 Q6PR46 Q6QDB1 Q860W2 Q860W4 Q9BD37 Q9TPM3 Q9UM31

Explore the universe of human proteins at neXtProt for ENSG00000232062: NX_P01909

Explore proteomics data for ENSG00000232062 at MOPED


See ENSG00000232062 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB


ENSEMBL proteins: 
 ENSP00000387892   ENSP00000413237   ENSP00000446974   ENSP00000448009   ENSP00000446733  
 ENSP00000449970  
Reactome Protein details: P01909

ENSG00000232062 Human Recombinant Protein Products:

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ENSG00000232062 Assay Products:

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Browse CLIAs at Cloud-Clone Corp.


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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Selected InterPro protein domains (see all 7):
 IPR007110 Ig-like_dom
 IPR001003 MHC_II_a_N
 IPR003006 Ig/MHC_CS
 IPR011162 MHC_I/II-like_Ag-recog
 IPR013783 Ig-like_fold

Graphical View of Domain Structure for InterPro Entry P01909

ProtoNet protein and cluster: P01909

2 Blocks protein domains:
IPB001003 MHC Class II alpha chain
IPB003597 Immunoglobulin C-type


UniProtKB/Swiss-Prot: DQA1_HUMAN, P01909
Similarity: Belongs to the MHC class II family
Similarity: Contains 1 Ig-like C1-type (immunoglobulin-like) domain


ENSG00000232062 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,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: DQA1_HUMAN, P01909
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 microenvironment 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:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005515protein binding ----
GO:0032395MHC class II receptor activity ----
     
ENSG00000232062 for ontologies           About GeneDecksing


Animal Models:
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
DQA1_HUMAN, P01909: 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. 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

Gene Ontology (GO): Selected cellular component terms (see all 13):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0000139Golgi membrane ----
GO:0005765lysosomal membrane ----
GO:0005886plasma membrane ----
GO:0005887integral component of plasma membrane ----
GO:0010008endosome membrane ----

ENSG00000232062 for ontologies           About GeneDecksing


(SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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Pathways by sourceSee SuperPaths
Show all pathways


Selected Reactome Pathways for ENSG00000232062 (see all 7)
    Translocation of ZAP-70 to Immunological synapse
Interferon gamma signaling
Downstream TCR signaling
PD-1 signaling
MHC class II antigen presentation



ENSG00000232062 for pathways           About GeneDecksing

    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ENSG00000232062
Interactions:

    Search GeneGlobe Interaction Network for ENSG00000232062

STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

Selected Interacting proteins for ENSG00000232062 (P019092, 3 ENSP000003878924) via UniProtKB, MINT, STRING, and/or I2D (see all 26)
InteractantInteraction Details
GeneCardExternal ID(s)
ENSG00000225824P019202, 3MINT-24807 I2D: score=6 
ENSG00000231286P019202, 3MINT-24807 I2D: score=6 
HLA-DQB1P019202, 3MINT-24807 I2D: score=6 
CD74P042332, 3MINT-72791 I2D: score=2 
ENSG00000233209P019202, 3, ENSP000003820254MINT-24807 I2D: score=6 STRING: ENSP00000382025
About this table

Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006955immune response ----
GO:0019221cytokine-mediated signaling pathway ----
GO:0019882antigen processing and presentation ----
GO:0019886antigen processing and presentation of exogenous peptide antigen via MHC class II ----
GO:0031295T cell costimulation ----

ENSG00000232062 for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for ENSG00000232062 (DQA1)



(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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000418023(uc011jsp.2) ENST00000444296(uc011jsn.1 uc011jso.1)
ENST00000552932 ENST00000548597 ENST00000550158 ENST00000547425
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Primer
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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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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See probesets specificity/sensitivity at GeneAnnot
CGAP TAG: --

ENSG00000232062 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

ENSG00000232062 Protein Expression
    Custom PCR Arrays for ENSG00000232062
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In Situ
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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)
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  --

ENSEMBL Gene Tree for ENSG00000232062 (if available)
TreeFam Gene Tree for ENSG00000232062 (if available)

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

(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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Polymorphic Variants from UniProtKB/Swiss-Prot
DQA1_HUMAN, P01909: The following alleles of DQA1 are known: DQA1*01:01, DQA1*01:02, DQA1*01:03, DQA1*01:04, DQA1*01:05,
DQA1*01:06, DQA1*01:07, DQA1*02:01, DQA1*03:01, DQA1*03:02, DQA1*03:03, DQA1*04:01, DQA1*04:02, DQA1*04:03,
DQA1*04:04, DQA1*05:01, DQA1*05:02, DQA1*05:03, DQA1*05:04, DQA1*05:05, DQA1*05:06, DQA1*05:07, DQA1*05:08,
DQA1*05:09, DQA1*06:01, DQA1*06:02. The sequence shown is that of DQA1*05:01
DQA1_HUMAN, P01909: DQ2 (heterodimer of DQA1*05:01/DQB1*02:01) is associated with more than 90% of celiac disease
patients. A minority displays DQ8 (heterodimer of DQA1*03/DQB1*03:02). DQ0602 (heterodimer of
DQA1*01:02/DQB1*06:02) confers dominant protection against type 1 diabetes (T1D) and strong susceptibility to
narcolepsy

Site Specific Mutation Identification with PCR Assays
Search QIAGEN SeqTarget long-range PCR primers for resequencing ENSG00000232062
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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.)
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4 diseases for ENSG00000232062:    About MalaCards
narcolepsy    celiac disease    type 1 diabetes    diabetes mellitus


ENSG00000232062 for disorders           About GeneDecksing


Export disorders for ENSG00000232062 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)
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PubMed articles for ENSG00000232062 gene, integrated from 10 sources (see all 34):
(articles sorted by number of sources associating them with ENSG00000232062)
    Utopia: connect your pdf to the dynamic
world of online information

  1. MHC class II transport at a glance. (PubMed id 19092054)2 Berger A.C. and Roche P.A. (J. Cell Sci. 2009)
  2. CD74 in antigen presentation, inflammation, and cancers of the gastrointestinal tract. (PubMed id 19533806)2 Beswick E.J. and Reyes V.E. (World J. Gastroenterol. 2009)
  3. MHC class II molecules on the move for successful antigen presentation. (PubMed id 18046453)2 Rocha N. and Neefjes J. (EMBO J. 2008)
  4. Autophagy in MHC class II presentation: sampling from within. (PubMed id 17241953)2 Menendez-Benito V. and Neefjes J. (Immunity 2007)
  5. A structural and immunological basis for the role of human leukocyte antigen DQ8 in celiac disease. (PubMed id 17629515)2 Henderson K.N.... Anderson R.P. (Immunity 2007)
  6. Four novel human leukocyte antigen-DQA1 alleles identified in the Korean population. (PubMed id 16866887)2 Lee K.W.... Oh D.H. (Tissue Antigens 2006)
  7. High-resolution genotyping of HLA-DQA1 in the GoKinD study and identification of novel alleles HLA-DQA1*040102, HLA-DQA1*0402 and HLA-DQA1*0404. (PubMed id 15853899)2 Cordovado S.K.... Mueller P.W. (Tissue Antigens 2005)
  8. Ancient haplotypes of the HLA Class II region. (PubMed id 16140993)2 Raymond C.K.... Olson M.V. (Genome Res. 2005)
  9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)
  10. Structural basis for HLA-DQ2-mediated presentation of gluten epitopes in celiac disease. (PubMed id 15020763)2 Kim C.Y.... Sollid L.M. (Proc. Natl. Acad. Sci. U.S.A. 2004)

(in PubMed, OMIM, and NCBI Bookshelf)
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 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)
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Ensembl:ENSG00000232062

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=HLA-DQA1[genesymbol]

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for ENSG00000232062 gene:
Search GeneIP for patents involving ENSG00000232062

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(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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 OriGene Custom Antibody Services for ENSG00000232062   OriGene Custom Protein Services for ENSG00000232062  

 
 
 Block miRNA regulation of human, mouse, rat ENSG00000232062 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing ENSG00000232062
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 Browse ESI BIO Cell Lines and PureStem Progenitors for ENSG00000232062
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 inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ENSG00000232062
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 Search LSBio for Antibodies for ENSG00000232062
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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