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Aliases for HLA-DRB5 Gene

Aliases for HLA-DRB5 Gene

  • Major Histocompatibility Complex, Class II, DR Beta 5 2 3 5
  • MHC Class II Antigen DRB5 3 4
  • DR2-Beta-2 3 4
  • DR Beta-5 3 4
  • Dw2 3 4
  • HLA Class II Histocompatibility Antigen, DRB1-9 Beta Chain 3
  • HLA Class II Histocompatibility Antigen, DR Beta 5 Chain 3
  • HLA Class II Histocompatibility Antigen, DR-5 Beta Chain 3
  • MHC HLA-DR-Beta Cell Surface Glycoprotein 3
  • Human Leucocyte Antigen DRB5 3
  • MHC Class II HLA Beta Chain 3
  • MHC Class II Antigen DRB1*9 3
  • Leukocyte Antigen Class II 3
  • MHC HLA-DR-Beta Chain 3
  • HLA-DRB 3
  • DR-9 3
  • DR9 3

External Ids for HLA-DRB5 Gene

Previous GeneCards Identifiers for HLA-DRB5 Gene

  • GC06M032490
  • GC06Md32512
  • GC06M032255
  • GC06Md32556
  • GC06M032593
  • GC06M032485

Summaries for HLA-DRB5 Gene

Entrez Gene Summary for HLA-DRB5 Gene

  • HLA-DRB5 belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DRA) and a beta (DRB) chain, both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. DRB1 is expressed at a level five times higher than its paralogues DRB3, DRB4 and DRB5. The presence of DRB5 is linked with allelic variants of DRB1, otherwise it is omitted. There are 4 related pseudogenes: DRB2, DRB6, DRB7, DRB8 and DRB9. [provided by RefSeq, Jul 2008]

GeneCards Summary for HLA-DRB5 Gene

HLA-DRB5 (Major Histocompatibility Complex, Class II, DR Beta 5) is a Protein Coding gene. Diseases associated with HLA-DRB5 include Pityriasis Rosea and Hemorrhagic Fever With Renal Syndrome. Among its related pathways are CTLA4 Signaling and HTLV-I infection. GO annotations related to this gene include peptide antigen binding. An important paralog of this gene is HLA-DMA.

UniProtKB/Swiss-Prot for HLA-DRB5 Gene

  • 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 Wiki entry for HLA-DRB5 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HLA-DRB5 Gene

Genomics for HLA-DRB5 Gene

Regulatory Elements for HLA-DRB5 Gene

Enhancers for HLA-DRB5 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around HLA-DRB5 on UCSC Golden Path with GeneCards custom track

Promoters for HLA-DRB5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around HLA-DRB5 on UCSC Golden Path with GeneCards custom track

Genomic Location for HLA-DRB5 Gene

Chromosome:
6
Start:
32,517,343 bp from pter
End:
32,530,316 bp from pter
Size:
12,974 bases
Orientation:
Minus strand

Genomic View for HLA-DRB5 Gene

Genes around HLA-DRB5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HLA-DRB5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HLA-DRB5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HLA-DRB5 Gene

Proteins for HLA-DRB5 Gene

  • Protein details for HLA-DRB5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q30154-DRB5_HUMAN
    Recommended name:
    HLA class II histocompatibility antigen, DR beta 5 chain
    Protein Accession:
    Q30154
    Secondary Accessions:
    • B2RBV6
    • C7C4X3
    • O00157
    • O00283
    • O46700
    • Q29703
    • Q29787
    • Q29788
    • Q30126
    • Q30150
    • Q30199
    • Q6SJR2
    • Q7M2H9
    • Q8HWS7
    • Q8WLR5
    • Q9MY54
    • Q9XRX6

    Protein attributes for HLA-DRB5 Gene

    Size:
    266 amino acids
    Molecular mass:
    30056 Da
    Quaternary structure:
    • 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.

    Three dimensional structures from OCA and Proteopedia for HLA-DRB5 Gene

neXtProt entry for HLA-DRB5 Gene

Proteomics data for HLA-DRB5 Gene at MOPED

Post-translational modifications for HLA-DRB5 Gene

  • Ubiquitinated by MARCH1 and MARCH8 at Lys-254 leading to down-regulation of MHC class II.
  • Ubiquitination at Lys 254
  • Glycosylation at Asn 48

Other Protein References for HLA-DRB5 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HLA-DRB5 Gene

Domains & Families for HLA-DRB5 Gene

Graphical View of Domain Structure for InterPro Entry

Q30154

UniProtKB/Swiss-Prot:

DRB5_HUMAN :
  • Contains 1 Ig-like C1-type (immunoglobulin-like) domain.
  • Belongs to the MHC class II family.
Domain:
  • Contains 1 Ig-like C1-type (immunoglobulin-like) domain.
Family:
  • Belongs to the MHC class II family.
genes like me logo Genes that share domains with HLA-DRB5: view

Function for HLA-DRB5 Gene

Molecular function for HLA-DRB5 Gene

GENATLAS Biochemistry:
HLA-DR,beta 5 chain,found in DR2 haplotypes
UniProtKB/Swiss-Prot 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.
genes like me logo Genes that share phenotypes with HLA-DRB5: view

Animal Models for HLA-DRB5 Gene

MGI Knock Outs for HLA-DRB5:

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for HLA-DRB5 Gene

Localization for HLA-DRB5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HLA-DRB5 Gene

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.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HLA-DRB5 Gene COMPARTMENTS Subcellular localization image for HLA-DRB5 gene
Compartment Confidence
endoplasmic reticulum 5
endosome 5
extracellular 5
lysosome 5
plasma membrane 5
vacuole 5
golgi apparatus 4
cytosol 1
mitochondrion 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for HLA-DRB5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 16502470
GO:0009897 external side of plasma membrane ISS --
GO:0032588 trans-Golgi network membrane TAS --
GO:0070062 extracellular exosome IDA 12519789
genes like me logo Genes that share ontologies with HLA-DRB5: view

Pathways & Interactions for HLA-DRB5 Gene

genes like me logo Genes that share pathways with HLA-DRB5: view

Gene Ontology (GO) - Biological Process for HLA-DRB5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002381 immunoglobulin production involved in immunoglobulin mediated immune response ISS --
GO:0006955 immune response IEA,ISS --
GO:0019221 cytokine-mediated signaling pathway TAS --
GO:0019882 antigen processing and presentation IEA --
GO:0042088 T-helper 1 type immune response ISS --
genes like me logo Genes that share ontologies with HLA-DRB5: view

No data available for SIGNOR curated interactions for HLA-DRB5 Gene

Drugs & Compounds for HLA-DRB5 Gene

(1) Drugs for HLA-DRB5 Gene - From: DGIdb

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
1D09C3 Investigational Pharma 0
genes like me logo Genes that share compounds with HLA-DRB5: view

Transcripts for HLA-DRB5 Gene

mRNA/cDNA for HLA-DRB5 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for HLA-DRB5 Gene

No ASD Table

Relevant External Links for HLA-DRB5 Gene

GeneLoc Exon Structure for
HLA-DRB5
ECgene alternative splicing isoforms for
HLA-DRB5

Expression for HLA-DRB5 Gene

mRNA expression in normal human tissues for HLA-DRB5 Gene

mRNA differential expression in normal tissues according to GTEx for HLA-DRB5 Gene

This gene is overexpressed in Spleen (x5.1) and Lung (x4.4).

Protein differential expression in normal tissues from HIPED for HLA-DRB5 Gene

This gene is overexpressed in Skin (48.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for HLA-DRB5 Gene



genes like me logo Genes that share expression patterns with HLA-DRB5: view

No data available for mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for HLA-DRB5 Gene

Orthologs for HLA-DRB5 Gene

This gene was present in the common ancestor of mammals.

Orthologs for HLA-DRB5 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia LOC101903005 35
  • 86.78 (n)
  • 81.86 (a)
-- 36
  • 51 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia HLA-DRB1 35
  • 84.84 (n)
  • 77.82 (a)
DLA-DRB1 36
  • 76 (a)
OneToMany
mouse
(Mus musculus)
Mammalia H2-Eb1 35
  • 80.33 (n)
  • 73.56 (a)
H2-Eb1 16
H2-Eb1 36
  • 73 (a)
ManyToMany
H2-Eb2 36
  • 59 (a)
ManyToMany
chimpanzee
(Pan troglodytes)
Mammalia PATR-DRB5 35
  • 96.24 (n)
  • 93.98 (a)
DRB5*0102 36
  • 94 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RT1-Db1 35
  • 78.6 (n)
  • 70.43 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 55 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 63 (a)
OneToMany
Species with no ortholog for HLA-DRB5:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for HLA-DRB5 Gene

ENSEMBL:
Gene Tree for HLA-DRB5 (if available)
TreeFam:
Gene Tree for HLA-DRB5 (if available)

Paralogs for HLA-DRB5 Gene

genes like me logo Genes that share paralogs with HLA-DRB5: view

Variants for HLA-DRB5 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for HLA-DRB5 Gene

DRB5_HUMAN-Q30154
The following alleles of DRB5 are known: DRB5*01:01, DRB5*01:02, DRB5*01:03, DRB5*01:04, DRB5*01:05, DRB5*01:06, DRB5*01:07, DRB5*01:09, DRB5*01:11, DRB5*01:12 DRB5*01:13, DRB5*01:14, DRB5*02:02, DRB5*02:03, DRB5*02:04, DRB5*02:05. The sequence shown is that of DRB5*01:01.

Sequence variations from dbSNP and Humsavar for HLA-DRB5 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
VAR_039871 -
VAR_039872 -
VAR_050355 -
VAR_050356 -
VAR_050357 -

Structural Variations from Database of Genomic Variants (DGV) for HLA-DRB5 Gene

Variant ID Type Subtype PubMed ID
dgv1930e1 CNV Complex 17122850
dgv1931e1 CNV Complex 17122850
nsv428142 CNV Gain+Loss 18775914
nsv830631 CNV Gain 17160897
dgv1932e1 CNV Complex 17122850
esv21985 CNV Gain+Loss 19812545
esv33476 CNV Gain+Loss 17666407
nsv884743 CNV Loss 21882294
dgv1933e1 CNV Complex 17122850
nsv884749 CNV Loss 21882294
nsv7883 CNV Gain+Loss 18304495
nsv442978 CNV CNV 18776908
nsv511120 CNV Complex 20534489
nsv884753 CNV Loss 21882294
dgv6656n71 CNV Gain 21882294
dgv1044e201 CNV Deletion 23290073
dgv1045e201 CNV Deletion 23290073
dgv1100e199 CNV Deletion 23128226
dgv6660n71 CNV Gain 21882294
esv6128 CNV Loss 19470904
dgv6663n71 CNV Gain+Loss 21882294
dgv6664n71 CNV Loss 21882294
dgv6665n71 CNV Gain 21882294
dgv1013n67 CNV Loss 20364138
nsv471491 CNV Deletion 19718026
dgv6667n71 CNV Gain 21882294
dgv6668n71 CNV Gain 21882294
esv1007504 CNV Gain 20482838
dgv1014n67 CNV Loss 20364138
dgv6669n71 CNV Loss 21882294
nsv823519 CNV Loss 20364138
dgv6671n71 CNV Gain 21882294
esv2459937 CNV Loss 19546169
nsv511350 CNV Loss 21212237
dgv1101e199 CNV Deletion 23128226
dgv104e19 CNV Loss 19470904
esv2422111 CNV Deletion 20811451
nsv435827 CNV Deletion 17901297
nsv514350 CNV Loss 21397061
dgv6672n71 CNV Gain 21882294
nsv820127 CNV Gain 19587683
dgv6674n71 CNV Gain 21882294
dgv6675n71 CNV Gain 21882294
dgv6676n71 CNV Gain+Loss 21882294
dgv6677n71 CNV Gain 21882294
dgv6678n71 CNV Gain 21882294
nsv884893 CNV Gain+Loss 21882294
dgv6679n71 CNV Loss 21882294
dgv6680n71 CNV Loss 21882294
nsv884913 CNV Loss 21882294
dgv6681n71 CNV Gain 21882294
esv5576 CNV Loss 19470904
dgv6682n71 CNV Loss 21882294
dgv6e3 CNV Complex 18987735
dgv1018n67 CNV Loss 20364138
esv29958 CNV Gain 18421352
nsv884931 CNV Gain 21882294
dgv1104e199 CNV Deletion 23128226
dgv1105e199 CNV Deletion 23128226
dgv105e19 CNV Loss 19470904
nsv823541 CNV Loss 20364138
dgv6683n71 CNV Gain 21882294
dgv6684n71 CNV Loss 21882294
dgv6685n71 CNV Gain+Loss 21882294
dgv6686n71 CNV Gain 21882294
dgv6687n71 CNV Gain 21882294
dgv6688n71 CNV Gain 21882294
dgv6689n71 CNV Loss 21882294
dgv106e19 CNV Loss 19470904
nsv823543 CNV Loss 20364138
dgv6690n71 CNV Gain 21882294
nsv884962 CNV Gain 21882294
nsv884963 CNV Gain+Loss 21882294
dgv6691n71 CNV Loss 21882294
dgv6692n71 CNV Loss 21882294
nsv884972 CNV Gain+Loss 21882294
nsv823544 CNV Loss 20364138
nsv823545 CNV Loss 20364138
dgv6693n71 CNV Gain 21882294
nsv823546 CNV Gain 20364138
nsv823547 CNV Loss 20364138
dgv6694n71 CNV Loss 21882294
dgv6695n71 CNV Gain 21882294
dgv1019n67 CNV Loss 20364138
esv2731847 CNV Deletion 23290073
nsv884991 CNV Gain 21882294
esv2671539 CNV Deletion 23128226
esv1346503 CNV Insertion 17803354
nsv884993 CNV Gain 21882294
dgv6696n71 CNV Gain+Loss 21882294
nsv884997 CNV Loss 21882294
dgv6697n71 CNV Gain 21882294
dgv6698n71 CNV Loss 21882294
dgv1020n67 CNV Gain+Loss 20364138
dgv1021n67 CNV Gain 20364138
esv1007815 CNV Loss 20482838
nsv823554 CNV Loss 20364138
dgv1022n67 CNV Loss 20364138
nsv885003 CNV Loss 21882294
dgv6699n71 CNV Gain 21882294
nsv885005 CNV Gain+Loss 21882294
dgv6700n71 CNV Loss 21882294
dgv6701n71 CNV Gain 21882294
dgv6702n71 CNV Loss 21882294
dgv6703n71 CNV Gain 21882294
dgv6704n71 CNV Gain 21882294
dgv6705n71 CNV Loss 21882294
nsv885023 CNV Gain+Loss 21882294
dgv6706n71 CNV Loss 21882294
dgv6707n71 CNV Gain+Loss 21882294
dgv6708n71 CNV Gain 21882294
dgv6709n71 CNV Loss 21882294
dgv6710n71 CNV Gain 21882294
esv2421657 CNV Deletion 20811451
dgv1023n67 CNV Loss 20364138
nsv819451 CNV Loss 19587683

Variation tolerance for HLA-DRB5 Gene

Gene Damage Index Score: 27.73; 99.83% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HLA-DRB5 Gene

Human Gene Mutation Database (HGMD)
HLA-DRB5

Disorders for HLA-DRB5 Gene

MalaCards: The human disease database

(7) MalaCards diseases for HLA-DRB5 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
pityriasis rosea
  • pityriasis circinata
hemorrhagic fever with renal syndrome
  • hemorrhagic fever, russian
latex allergy
central nervous system vasculitis
  • vasculitis, central nervous system
temporal arteritis
  • giant cell arteritis
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for HLA-DRB5

Genetic Association Database (GAD)
HLA-DRB5
Human Genome Epidemiology (HuGE) Navigator
HLA-DRB5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HLA-DRB5
genes like me logo Genes that share disorders with HLA-DRB5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HLA-DRB5 Gene

Publications for HLA-DRB5 Gene

  1. Visual hallucinations and HLA class II antigens in cortical dementia. (PMID: 20606439) GA^mez-Tortosa E. … CA!rdaba B. (Dement Geriatr Cogn Disord 2010) 3 48 67
  2. Association of Brain DNA methylation in SORL1, ABCA7, HLA-DRB5, SLC24A4, and BIN1 with pathological diagnosis of Alzheimer disease. (PMID: 25365775) Yu L. … Bennett D.A. (JAMA Neurol 2015) 3
  3. Molecular mechanism and cellular function of MHCII ubiquitination. (PMID: 26085212) Oh J. … Shin J.S. (Immunol. Rev. 2015) 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. Genome-wide association study of Crohn's disease in Koreans revealed three new susceptibility loci and common attributes of genetic susceptibility across ethnic populations. (PMID: 23850713) Yang S.K. … Song K. (Gut 2014) 3

Products for HLA-DRB5 Gene

Sources for HLA-DRB5 Gene

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