ENSG00000237541


Homo sapiens

Features
Gene ID: ENSG00000237541
  
Biological name :HLA-DQA2
  
Synonyms : HLA-DQA2 / major histocompatibility complex, class II, DQ alpha 2 / P01906
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 6
Strand: 1
Band: p21.32
Gene start: 32741342
Gene end: 32747215
  
Corresponding Affymetrix probe sets: 203290_at (Human Genome U133 Plus 2.0 Array)   212671_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000364076
NCBI entrez gene - 3117     See in Manteia.
NCBI entrez gene - 3118     See in Manteia.
OMIM - 146880
OMIM - 613503
RefSeq - NM_020056
RefSeq Peptide - NP_064440
swissprot - P01906
swissprot - Q76NI6
Ensembl - ENSG00000237541
  
Related genetic diseases (OMIM): 212750 - {Celiac disease, susceptibility to}, 212750
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 CT583723.2ENSDARG00000116565Danio rerio
 CU914776.2ENSDARG00000114601Danio rerio
 si:busm1-194e12.11ENSDARG00000103716Danio rerio
 si:busm1-194e12.8ENSDARG00000103702Danio rerio
 si:busm1-266f07.2ENSDARG00000031745Danio rerio
 si:ch73-211l2.3ENSDARG00000075932Danio rerio
 si:zfos-2070c2.1ENSDARG00000070206Danio rerio
 si:zfos-367g9.1ENSDARG00000074816Danio rerio
 zgc:123107ENSDARG00000101675Danio rerio
 H2-AaENSMUSG00000036594Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
P01909 / HLA-DQA1 / major histocompatibility complex, class II, DQ alpha 1ENSG0000019673589
P20036 / HLA-DPA1 / major histocompatibility complex, class II, DP alpha 1ENSG0000023138956
P01903 / HLA-DRA / major histocompatibility complex, class II, DR alphaENSG0000020428753
P06340 / HLA-DOA / major histocompatibility complex, class II, DO alphaENSG0000020425253
P28067 / HLA-DMA / major histocompatibility complex, class II, DM alphaENSG0000020425726


Protein motifs (from Interpro)
Interpro ID Name
 IPR001003  MHC class II, alpha chain, N-terminal
 IPR003006  Immunoglobulin/major histocompatibility complex, conserved site
 IPR003597  Immunoglobulin C1-set
 IPR007110  Immunoglobulin-like domain
 IPR011162  MHC classes I/II-like antigen recognition protein
 IPR013783  Immunoglobulin-like fold
 IPR014745  MHC class II, alpha/beta chain, N-terminal
 IPR036179  Immunoglobulin-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002376 immune system process IEA
 biological_processGO:0002504 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II IEA
 biological_processGO:0006955 immune response NAS
 biological_processGO:0019882 antigen processing and presentation IEA
 biological_processGO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II TAS
 biological_processGO:0031295 T cell costimulation TAS
 biological_processGO:0050852 T cell receptor signaling pathway TAS
 biological_processGO:0060333 interferon-gamma-mediated signaling pathway TAS
 cellular_componentGO:0000139 Golgi membrane TAS
 cellular_componentGO:0005764 lysosome IEA
 cellular_componentGO:0005765 lysosomal membrane TAS
 cellular_componentGO:0005768 endosome IEA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane IEA
 cellular_componentGO:0005794 Golgi apparatus IEA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005887 integral component of plasma membrane NAS
 cellular_componentGO:0010008 endosome membrane IEA
 cellular_componentGO:0012507 ER to Golgi transport vesicle membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030658 transport vesicle membrane TAS
 cellular_componentGO:0030666 endocytic vesicle membrane TAS
 cellular_componentGO:0030669 clathrin-coated endocytic vesicle membrane TAS
 cellular_componentGO:0032588 trans-Golgi network membrane TAS
 cellular_componentGO:0042613 MHC class II protein complex IEA
 cellular_componentGO:0071556 integral component of lumenal side of endoplasmic reticulum membrane TAS
 molecular_functionGO:0032395 MHC class II receptor activity NAS


Pathways (from Reactome)
Pathway description
Downstream TCR signaling
Phosphorylation of CD3 and TCR zeta chains
Translocation of ZAP-70 to Immunological synapse
Generation of second messenger molecules
MHC class II antigen presentation
PD-1 signaling
Interferon gamma signaling


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0002571 Achalasia 
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000010610 CD4 / P01730 / CD4 molecule  / complex / reaction
 ENSG00000019582 CD74 / P04233 / CD74 molecule  / complex / reaction
 ENSG00000103653 CSK / P41240 / C-terminal Src kinase  / reaction
 ENSG00000122705 CLTA / P09496 / clathrin light chain A  / reaction / complex
 ENSG00000129354 AP1M2 / Q9Y6Q5 / adaptor related protein complex 1 mu 2 subunit  / complex
 ENSG00000204252 P06340 / HLA-DOA / major histocompatibility complex, class II, DO alpha  / reaction / complex
 ENSG00000138802 O95487 / SEC24B / SEC24 homolog B, COPII coat complex component  / complex / reaction
 ENSG00000138674 O94979 / SEC31A / SEC31 homolog A, COPII coat complex component  / complex / reaction
 ENSG00000042753 AP2S1 / P53680 / adaptor related protein complex 2 sigma 1 subunit  / reaction / complex
 ENSG00000115085 ZAP70 / P43403 / zeta chain of T cell receptor associated protein kinase 70  / complex / reaction
 ENSG00000072958 AP1M1 / Q9BXS5 / adaptor related protein complex 1 mu 1 subunit  / complex
 ENSG00000167286 CD3D / P04234 / CD3d molecule  / reaction / complex
 ENSG00000100934 Q15436 / SEC23A / Sec23 homolog A, coat complex II component  / reaction / complex
 ENSG00000160654 CD3G / P09693 / CD3g molecule  / complex / reaction
 ENSG00000161203 AP2M1 / Q96CW1 / adaptor related protein complex 2 mu 1 subunit  / complex / reaction
 ENSG00000150961 O94855 / SEC24D / SEC24 homolog D, COPII coat complex component  / reaction / complex
 ENSG00000141367 CLTC / Q00610 / clathrin heavy chain  / reaction / complex
 ENSG00000166747 AP1G1 / O43747 / adaptor related protein complex 1 gamma 1 subunit  / complex
 ENSG00000152056 AP1S3 / Q96PC3 / adaptor related protein complex 1 sigma 3 subunit  / complex
 ENSG00000182287 AP1S2 / P56377 / adaptor related protein complex 1 sigma 2 subunit  / complex
 ENSG00000100280 AP1B1 / Q10567 / adaptor related protein complex 1 beta 1 subunit  / complex
 ENSG00000182866 LCK / P06239 / LCK proto-oncogene, Src family tyrosine kinase  / reaction / complex
 ENSG00000183020 AP2A2 / O94973 / adaptor related protein complex 2 alpha 2 subunit  / reaction / complex
 ENSG00000157020 SEC13 / P55735 / SEC13 homolog, nuclear pore and COPII coat complex component  / complex / reaction
 ENSG00000176986 P53992 / SEC24C / SEC24 homolog C, COPII coat complex component  / reaction / complex
 ENSG00000111679 PTPN6 / P29350 / protein tyrosine phosphatase, non-receptor type 6  / reaction
 ENSG00000100600 LGMN / Q99538 / legumain  / reaction
 ENSG00000113615 O95486 / SEC24A / SEC24 homolog A, COPII coat complex component  / complex / reaction
 ENSG00000106367 AP1S1 / P61966 / adaptor related protein complex 1 sigma 1 subunit  / complex
 ENSG00000196735 P01909 / HLA-DQA1 / major histocompatibility complex, class II, DQ alpha 1  / reaction / complex
 ENSG00000198821 CD247 / P20963 / CD247 molecule  / complex / reaction
 ENSG00000196961 AP2A1 / O95782 / adaptor related protein complex 2 alpha 1 subunit  / complex / reaction
 ENSG00000079805 DNM2 / P50570 / dynamin 2  / reaction / complex
 ENSG00000179295 PTPN11 / Q06124 / protein tyrosine phosphatase, non-receptor type 11  / reaction
 ENSG00000198851 CD3E / P07766 / CD3e molecule  / complex / reaction
 ENSG00000134242 PTPN22 / Q9Y2R2 / protein tyrosine phosphatase, non-receptor type 22  / reaction
 ENSG00000163131 CTSS / P25774 / cathepsin S  / reaction
 ENSG00000204287 P01903 / HLA-DRA / major histocompatibility complex, class II, DR alpha  / complex / reaction
 ENSG00000204257 P28067 / HLA-DMA / major histocompatibility complex, class II, DM alpha  / reaction / complex
 ENSG00000124181 PLCG1 / P19174 / phospholipase C gamma 1  / reaction
 ENSG00000213658 LAT / O43561 / linker for activation of T cells  / reaction
 ENSG00000107295 Q99962 / SH3GL2 / SH3 domain containing GRB2 like 2, endophilin A1  / complex
 ENSG00000089692 LAG3 / P18627 / lymphocyte activating 3  / reaction / complex
 ENSG00000065675 PRKCQ / Q04759 / protein kinase C theta  / reaction
 ENSG00000211799 TRAV19 / T cell receptor alpha variable 19  / reaction / complex
 ENSG00000237541 P01906 / HLA-DQA2 / major histocompatibility complex, class II, DQ alpha 2  / complex / reaction
 ENSG00000241106 P13765 / HLA-DOB / major histocompatibility complex, class II, DO beta  / complex / reaction
 ENSG00000242574 P28068 / HLA-DMB / major histocompatibility complex, class II, DM beta  / complex / reaction
 ENSG00000231389 P20036 / HLA-DPA1 / major histocompatibility complex, class II, DP alpha 1  / reaction / complex
 ENSG00000127022 CANX / P27824 / calnexin  / reaction / complex
 ENSG00000100351 GRAP2 / O75791 / GRB2-related adaptor protein 2  / reaction
 ENSG00000043462 LCP2 / Q13094 / lymphocyte cytosolic protein 2  / reaction
 ENSG00000152700 SAR1B / Q9Y6B6 / secretion associated Ras related GTPase 1B  / reaction / complex
 ENSG00000149177 PTPRJ / Q12913 / protein tyrosine phosphatase, receptor type J  / reaction
 ENSG00000006125 AP2B1 / P63010 / adaptor related protein complex 2 beta 1 subunit  / reaction / complex






 

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