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. The beta chain is approximate... See more...

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
  • DR Beta-5 3 4
  • HLA Class II Histocompatibility Antigen, DR-5 Beta Chain 3
  • HLA Class II Histocompatibility Antigen, DR Beta 5 Chain 4
  • DR2-Beta-2 4
  • HLA-DRB5 5
  • Dw2 4

External Ids for HLA-DRB5 Gene

Previous GeneCards Identifiers for HLA-DRB5 Gene

  • GC06M032490
  • GC06Md32512
  • GC06M032255
  • GC06Md32556
  • GC06M032593
  • GC06M032485
  • GC06M032519
  • GC06M032530

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. 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. There are multiple pseudogenes of this gene. [provided by RefSeq, Feb 2020]

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 Trochlear Nerve Disease. Among its related pathways are TCR Signaling (Qiagen) and Tuberculosis. Gene Ontology (GO) annotations related to this gene include peptide antigen binding. An important paralog of this gene is HLA-DRB1.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for HLA-DRB5 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HLA-DRB5 Gene

Genomics for HLA-DRB5 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for HLA-DRB5 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HLA-DRB5 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HLA-DRB5

Top Transcription factor binding sites by QIAGEN in the HLA-DRB5 gene promoter:
  • AP-1
  • c-Fos
  • c-Jun
  • NF-kappaB
  • NF-kappaB1
  • NF-kappaB2
  • STAT1
  • STAT1alpha
  • STAT1beta
  • STAT3

Genomic Locations for HLA-DRB5 Gene

Genomic Locations for HLA-DRB5 Gene
chr6:32,517,343-32,530,316
(GRCh38/hg38)
Size:
12,974 bases
Orientation:
Minus strand
chr6:32,485,120-32,498,064
(GRCh37/hg19)
Size:
12,945 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

Post-translational modifications for HLA-DRB5 Gene

  • Ubiquitinated by MARCH1 and MARCH8 at Lys-254 leading to down-regulation of MHC class II.
  • Glycosylation at Asn48
  • Glycosylation from GlyConnect

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

Gene Families for HLA-DRB5 Gene

Protein Domains for HLA-DRB5 Gene

InterPro:
Blocks:
  • Immunoglobulin C-type
  • Class II histocompatibility antigen, beta chain, beta-1 domain
  • MHC Class II alpha chain, alpha-1 domain
ProtoNet:

Suggested Antigen Peptide Sequences for HLA-DRB5 Gene

GenScript: Design optimal peptide antigens:
  • MHC class II antigen (A1A424_HUMAN)
  • MHC class II antigen (A1A425_HUMAN)
  • MHC class II antigen (A1A426_HUMAN)
  • MHC class II antigen (A1A427_HUMAN)
  • MHC class II antigen (A1A428_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q30154

UniProtKB/Swiss-Prot:

DRB5_HUMAN :
  • Belongs to the MHC class II family.
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

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.
GENATLAS Biochemistry:
HLA-DR,beta 5 chain,found in DR2 haplotypes

Phenotypes From GWAS Catalog for HLA-DRB5 Gene

Gene Ontology (GO) - Molecular Function for HLA-DRB5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042605 peptide antigen binding ISS 20356827
genes like me logo Genes that share ontologies with HLA-DRB5: view
genes like me logo Genes that share phenotypes with HLA-DRB5: view

Animal Models for HLA-DRB5 Gene

MGI Knock Outs for HLA-DRB5:
  • H2-Eb1 H2-Eb1<tm1a(KOMP)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HLA-DRB5

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HLA-DRB5 gene
Compartment Confidence
plasma membrane 5
extracellular 5
endosome 5
lysosome 5
endoplasmic reticulum 4
golgi apparatus 4
mitochondrion 2
nucleus 2
cytosol 2
cytoskeleton 1
peroxisome 0

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

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005764 lysosome IEA --
GO:0005765 lysosomal membrane TAS --
GO:0005768 endosome IEA --
GO:0005783 endoplasmic reticulum IEA --
genes like me logo Genes that share ontologies with HLA-DRB5: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for HLA-DRB5 Gene

Pathways & Interactions for HLA-DRB5 Gene

PathCards logo

SuperPathways for HLA-DRB5 Gene

SuperPathway Contained pathways
1 Allograft rejection
.44
.39
.38
2 Th17 cell differentiation
.36
3 Translocation of ZAP-70 to Immunological synapse
4 ICos-ICosL Pathway in T-Helper Cell
.66
.66
.31
5 TCR Signaling (Qiagen)
.68
.68
.54
genes like me logo Genes that share pathways with HLA-DRB5: view

Pathways by source for HLA-DRB5 Gene

6 GeneGo (Thomson Reuters) pathways for HLA-DRB5 Gene
  • G-protein signaling N-RAS regulation pathway
  • Immune response Antigen presentation by MHC class II
  • Immune response ICOS pathway in T-helper cell
  • Immune response IL-22 signaling pathway
  • Immune response NFAT in immune response
12 Qiagen pathways for HLA-DRB5 Gene
  • Calcium Mediated T-Cell Apoptosis
  • CD28 Signaling in T-Helper Cell
  • CDC42 Pathway
  • CTL Mediated Apoptosis
  • CTLA4 Signaling

SIGNOR curated interactions for HLA-DRB5 Gene

Is activated by:

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

GO ID Qualified GO term Evidence PubMed IDs
GO:0002250 adaptive immune response IEA --
GO:0002376 immune system process IEA --
GO:0002504 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II IEA --
GO:0006955 immune response IEA --
GO:0019882 antigen processing and presentation IEA --
genes like me logo Genes that share ontologies with HLA-DRB5: view

Drugs & Compounds for HLA-DRB5 Gene

(2) Drugs for HLA-DRB5 Gene - From: DrugBank and DGIdb

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

Transcripts for HLA-DRB5 Gene

mRNA/cDNA for HLA-DRB5 Gene

1 REFSEQ mRNAs :
52 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HLA-DRB5

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

Expression for HLA-DRB5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 and MOPED for HLA-DRB5 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HLA-DRB5

Evidence on tissue expression from TISSUES for HLA-DRB5 Gene

  • Blood(4.6)
  • Stomach(4.5)
  • Liver(4.4)
  • Lymph node(3.2)
  • Lung(3)
  • Spleen(3)
  • Skin(2.9)
  • Intestine(2.7)
  • Nervous system(2.5)
  • Kidney(2.5)
  • Heart(2.4)
  • Muscle(2.3)
  • Bone marrow(2.2)
genes like me logo Genes that share expression patterns with HLA-DRB5: view

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
Chimpanzee
(Pan troglodytes)
Mammalia PATR-DRB5 30
  • 96.24 (n)
DRB5*0102 31
  • 94 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia LOC101903005 30
  • 86.78 (n)
-- 31
  • 51 (a)
ManyToMany
Dog
(Canis familiaris)
Mammalia HLA-DRB1 30
  • 84.84 (n)
DLA-DRB1 31
  • 76 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia H2-Eb1 30 17 31
  • 80.33 (n)
ManyToMany
H2-Eb2 31
  • 59 (a)
ManyToMany
Rat
(Rattus norvegicus)
Mammalia RT1-Db1 30
  • 78.6 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 63 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 55 (a)
ManyToMany
Species where no ortholog for HLA-DRB5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for HLA-DRB5: view image

Paralogs for HLA-DRB5 Gene

(124) SIMAP similar genes for HLA-DRB5 Gene using alignment to 21 proteins:

  • DRB5_HUMAN
  • A1A424_HUMAN
  • A1A425_HUMAN
  • A1A426_HUMAN
  • A1A427_HUMAN
  • A1A428_HUMAN
  • E9NVG9_HUMAN
  • I2G868_HUMAN
  • O46698_HUMAN
  • O78167_HUMAN
  • Q06654_HUMAN
  • Q06663_HUMAN
  • Q06664_HUMAN
  • Q2YHL2_HUMAN
  • Q30151_HUMAN
  • Q3LTJ2_HUMAN
  • Q5EEQ8_HUMAN
  • Q5TJ21_HUMAN
  • Q5W1E2_HUMAN
  • Q8HWH1_HUMAN
  • Q9TPE2_HUMAN
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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HLA-DRB5 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
rs200591586 Benign: not specified 32,518,080(-) G/A INTRON_VARIANT
rs201699945 Benign: not specified 32,518,079(-) T/C SPLICE_ACCEPTOR_VARIANT
rs41547217 -. - p.Asp99Hisp.Asp99Asn
rs696318 -. - p.Phe96Leup.Phe96Ile
rs707956 -. - p.Asp66Asnp.Asp66Tyr

Additional dbSNP identifiers (rs#s) for HLA-DRB5 Gene

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

Variant ID Type Subtype PubMed ID
dgv1013n67 CNV loss 20364138
dgv1014n67 CNV loss 20364138
dgv1018n67 CNV loss 20364138
dgv1019n67 CNV loss 20364138
dgv1020n67 CNV gain+loss 20364138
dgv1021n67 CNV gain 20364138
dgv1022n67 CNV loss 20364138
dgv1023n67 CNV loss 20364138
dgv10463n54 CNV loss 21841781
dgv10472n54 CNV loss 21841781
dgv10487n54 CNV loss 21841781
dgv10488n54 CNV loss 21841781
dgv10489n54 CNV loss 21841781
dgv10490n54 CNV loss 21841781
dgv10491n54 CNV gain 21841781
dgv10492n54 CNV gain 21841781
dgv10493n54 CNV gain 21841781
dgv10494n54 CNV gain 21841781
dgv10495n54 CNV gain 21841781
dgv10497n54 CNV loss 21841781
dgv10498n54 CNV gain+loss 21841781
dgv10499n54 CNV gain 21841781
dgv10500n54 CNV loss 21841781
dgv10501n54 CNV loss 21841781
dgv10502n54 CNV loss 21841781
dgv10503n54 CNV loss 21841781
dgv10504n54 CNV gain+loss 21841781
dgv10505n54 CNV gain 21841781
dgv10506n54 CNV loss 21841781
dgv10513n54 CNV loss 21841781
dgv10514n54 CNV loss 21841781
dgv10517n54 CNV gain 21841781
dgv10518n54 CNV loss 21841781
dgv10519n54 CNV gain+loss 21841781
dgv10520n54 CNV loss 21841781
dgv10521n54 CNV loss 21841781
dgv10522n54 CNV loss 21841781
dgv10523n54 CNV loss 21841781
dgv10526n54 CNV loss 21841781
dgv10527n54 CNV loss 21841781
dgv10528n54 CNV loss 21841781
dgv10529n54 CNV loss 21841781
dgv10530n54 CNV loss 21841781
dgv10531n54 CNV loss 21841781
dgv10532n54 CNV loss 21841781
dgv1100e199 CNV deletion 23128226
dgv1101e199 CNV deletion 23128226
dgv1104e199 CNV deletion 23128226
dgv1105e199 CNV deletion 23128226
dgv120e19 CNV loss 19470904
dgv121e19 CNV loss 19470904
dgv122e19 CNV loss 19470904
dgv384e215 CNV deletion 23714750
dgv5945n100 CNV gain 25217958
dgv5946n100 CNV loss 25217958
dgv5947n100 CNV gain 25217958
dgv5948n100 CNV gain 25217958
dgv5949n100 CNV gain+loss 25217958
dgv5950n100 CNV gain+loss 25217958
dgv6e3 OTHER complex 18987735
dgv997e201 CNV deletion 23290073
dgv998e201 CNV deletion 23290073
esv1007504 CNV gain 20482838
esv1007815 CNV loss 20482838
esv1346503 CNV insertion 17803354
esv21985 CNV gain+loss 19812545
esv2421657 CNV deletion 20811451
esv2422111 CNV deletion 20811451
esv2459937 CNV loss 19546169
esv2671539 CNV deletion 23128226
esv2731847 CNV deletion 23290073
esv2759416 CNV gain+loss 17122850
esv2761046 CNV gain+loss 21179565
esv2763944 CNV gain+loss 21179565
esv29958 CNV gain 18421352
esv33476 CNV gain+loss 17666407
esv3567555 CNV deletion 23714750
esv3584531 CNV gain 24956385
esv3584842 CNV loss 24956385
esv3608588 CNV loss 21293372
esv3890830 CNV gain+loss 25118596
esv3890831 CNV gain 25118596
esv3890834 CNV loss 25118596
esv5576 CNV loss 19470904
esv6128 CNV loss 19470904
nsv1019395 CNV loss 25217958
nsv1020340 CNV loss 25217958
nsv1073969 CNV deletion 25765185
nsv1112900 CNV deletion 24896259
nsv1126749 CNV deletion 24896259
nsv1161372 CNV deletion 26073780
nsv428142 CNV gain+loss 18775914
nsv435827 CNV deletion 17901297
nsv442978 CNV loss 18776908
nsv471491 CNV loss 19718026
nsv511120 OTHER complex 20534489
nsv511350 CNV loss 21212237
nsv514350 CNV loss 21397061
nsv602240 CNV gain 21841781
nsv602329 CNV gain 21841781
nsv602383 CNV loss 21841781
nsv602399 CNV gain 21841781
nsv602405 CNV loss 21841781
nsv602406 CNV loss 21841781
nsv602412 CNV loss 21841781
nsv602414 CNV loss 21841781
nsv602427 CNV gain 21841781
nsv7883 CNV gain+loss 18304495
nsv819451 CNV loss 19587683
nsv820127 CNV gain 19587683
nsv823519 CNV loss 20364138
nsv823541 CNV loss 20364138
nsv823543 CNV loss 20364138
nsv823544 CNV loss 20364138
nsv823545 CNV loss 20364138
nsv823546 CNV gain 20364138
nsv823547 CNV loss 20364138
nsv823554 CNV loss 20364138
nsv830631 CNV gain 17160897
nsv965709 CNV duplication 23825009
nsv981351 CNV deletion 23825009

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)

Additional Variant Information for HLA-DRB5 Gene

Human Gene Mutation Database (HGMD)
HLA-DRB5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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
trochlear nerve disease
  • disorder of trochlear nerve
rheumatoid arthritis
  • ra
diabetes mellitus
  • diabetes
systemic lupus erythematosus
  • sle
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for HLA-DRB5

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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. The impact of anti-HY responses on outcome in current and subsequent pregnancies of patients with recurrent pregnancy losses. (PMID: 20307907) Christiansen OB … Nielsen HS (Journal of reproductive immunology 2010) 3 41
  2. Visual hallucinations and HLA class II antigens in cortical dementia. (PMID: 20606439) Gómez-Tortosa E … Cárdaba B (Dementia and geriatric cognitive disorders 2010) 3 41
  3. Genetic association of the major histocompatibility complex with rheumatoid arthritis implicates two non-DRB1 loci. (PMID: 19116923) Vignal C … Wilson AG (Arthritis and rheumatism 2009) 3 41
  4. Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study. (PMID: 19122664) Silverberg MS … Duerr RH (Nature genetics 2009) 3 41
  5. HLA risk markers for chronic myelogenous leukemia in Eastern Canada. (PMID: 19235017) Naugler C … Liwski R (Leukemia & lymphoma 2009) 3 41

Products for HLA-DRB5 Gene

  • Biorbyt antibodies for HLA-DRB5

Sources for HLA-DRB5 Gene