H2-Q4 (histocompatibility 2, Q region locus 4) - Rat Genome Database

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Gene: H2-Q4 (histocompatibility 2, Q region locus 4) Mus musculus
Analyze
No known orthologs.
Symbol: H2-Q4
Name: histocompatibility 2, Q region locus 4
RGD ID: 1610420
MGI Page MGI
Description: Predicted to enable several functions, including TAP complex binding activity; beta-2-microglobulin binding activity; and signaling receptor binding activity. Predicted to be involved in several processes, including antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent; antigen processing and presentation of endogenous peptide antigen via MHC class Ib; and positive regulation of T cell mediated cytotoxicity. Predicted to be located in several cellular components, including Golgi medial cisterna; cell surface; and endoplasmic reticulum exit site. Predicted to be part of MHC class I peptide loading complex; MHC class I protein complex; and MHC class Ib protein complex. Predicted to be active in external side of plasma membrane and extracellular space. Is expressed in several structures, including brain; genitourinary system; hemolymphoid system gland; liver; and small intestine. Human ortholog(s) of this gene implicated in several diseases, including artery disease (multiple); asthma (multiple); autoimmune disease (multiple); eye disease (multiple); and inner ear disease (multiple). Orthologous to several human genes including HLA-B (major histocompatibility complex, class I, B); HLA-C (major histocompatibility complex, class I, C); and HLA-E (major histocompatibility complex, class I, E).
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: H-2Q4; H2-D1; H2-Gs1; H2-Gs10; MGC6571; MHC class I like protein GS10; MHC class II antigen D; Qa; Qa-; Qa-4; Qa4; Qat-; Qat-4; Qb-1; Qb1
RGD Orthologs
Alliance Orthologs
More Info homologs ...
Latest Assembly: GRCm39 - Mouse Genome Assembly GRCm39
Position:
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391735,598,593 - 35,603,650 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1735,598,593 - 35,604,266 (+)EnsemblGRCm39 Ensembl
GRCm381735,379,617 - 35,384,674 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1735,379,617 - 35,385,290 (+)EnsemblGRCm38mm10GRCm38
MGSCv371735,516,562 - 35,521,619NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361735,516,564 - 35,521,594 (+)NCBIMGSCv36mm8
Cytogenetic Map17B1NCBI
cM Map1718.65NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Human leukocyte antigen (HLA)-B, DRB1, and DQB1 allotypes associated with disease and protection of trachoma endemic villagers. Abbas M, etal., Invest Ophthalmol Vis Sci. 2009 Apr;50(4):1734-8. doi: 10.1167/iovs.08-2053. Epub 2008 Sep 29.
2. AIDS-associated Reiter's syndrome. Altman EM, etal., Ann Allergy. 1994 Apr;72(4):307-16.
3. HLA class I polymorphisms in Tunisian patients with otosclerosis. Bel Hadj Ali I, etal., Ann Hum Biol. 2012 May;39(3):190-4. doi: 10.3109/03014460.2012.671849. Epub 2012 Apr 4.
4. Profiling of human leukocyte antigens in Eales' disease. Biswas J, etal., Int Ophthalmol. 1997-1998;21(5):277-81.
5. Human leukocyte antigen class I expression. Marker of poor prognosis in uveal melanoma. Blom DJ, etal., Invest Ophthalmol Vis Sci. 1997 Aug;38(9):1865-72.
6. HLA class I associations of ankylosing spondylitis in the white population in the United Kingdom. Brown MA, etal., Ann Rheum Dis. 1996 Apr;55(4):268-70.
7. HLA-B alleles associated with severe cutaneous reactions to antiepileptic drugs in Han Chinese. Cheung YK, etal., Epilepsia. 2013 Jul;54(7):1307-14. doi: 10.1111/epi.12217. Epub 2013 May 20.
8. HLA-B phenotype modifies the course of Behcet's disease in Moroccan patients. Choukri F, etal., Tissue Antigens. 2003 Jan;61(1):92-6.
9. Association of the HLA-DR15/HLA-DQ6 haplotype with development of choroidal neovascular lesions in presumed ocular histoplasmosis syndrome. Dabil H, etal., Hum Immunol. 2003 Oct;64(10):960-4.
10. [Characteristics of the distribution of major histocompatibility system antigens in retinal vasculitis in patients with Behcet's disease]. Ermakova NA Vestn Oftalmol. 2003 Jan-Feb;119(1):31-3.
11. The role of the human leukocyte antigen system in retinopathy of prematurity: a pilot study. Flor-de-Lima F, etal., Acta Paediatr. 2013 Aug 29. doi: 10.1111/apa.12410.
12. Lack of association of HLA-B*51 with a severe disease course in Behcet's disease. Gul A, etal., Rheumatology (Oxford). 2001 Jun;40(6):668-72.
13. Spontaneous inflammatory disease in transgenic rats expressing HLA-B27 and human beta 2m: an animal model of HLA-B27-associated human disorders. Hammer RE, etal., Cell. 1990 Nov 30;63(5):1099-112.
14. An association between acute retinal necrosis syndrome and HLA-DQw7 and phenotype Bw62, DR4. Holland GN, etal., Am J Ophthalmol. 1989 Oct 15;108(4):370-4.
15. The association of HLA -A, -B, and -DRB1 genotypes with Graves' disease in Taiwanese people. Huang SM, etal., Tissue Antigens. 2003 Feb;61(2):154-8.
16. Associations of major histocompatibility complex class I chain-related molecule polymorphisms with Behcet's disease in Caucasian patients. Hughes EH, etal., Tissue Antigens. 2005 Sep;66(3):195-9.
17. Genetic and non-genetic factors affecting the visual outcome of ocular Behcet's disease. Kang EH, etal., Hum Immunol. 2013 Oct;74(10):1363-7. doi: 10.1016/j.humimm.2013.06.036. Epub 2013 Jul 2.
18. HLA-B locus in Japanese patients with anti-epileptics and allopurinol-related Stevens-Johnson syndrome and toxic epidermal necrolysis. Kaniwa N, etal., Pharmacogenomics. 2008 Nov;9(11):1617-22. doi: 10.2217/14622416.9.11.1617.
19. Association of class I HLA antigens with the clinical manifestations of Turkish patients with Behcet's disease. Kaya TI, etal., Clin Exp Dermatol. 2002 Sep;27(6):498-501.
20. Evaluation of HLA-A, -B, -Cw, and -DRB1 alleles frequency in Turkish patients with nasal polyposis. Keles B, etal., Otolaryngol Head Neck Surg. 2008 Oct;139(4):580-5. doi: 10.1016/j.otohns.2008.07.002.
21. Frequency of HLA antigens in Graves' hyperthyroidism and mitral valve prolapse. Kontopoulos A, etal., J Heart Valve Dis. 1996 Sep;5(5):543-7.
22. Audio-vestibular disturbances in Behcet's patients: report of 62 cases. Kulahli I, etal., Hear Res. 2005 May;203(1-2):28-31.
23. Association between HLA-B*46 allele and Graves disease in Asian populations: a meta-analysis. Li Y, etal., Int J Med Sci. 2013;10(2):164-70. doi: 10.7150/ijms.5158. Epub 2013 Jan 3.
24. [Association of HLA antigens with thyrotoxic periodic paralysis]. Liu WH, etal., Zhonghua Nei Ke Za Zhi. 1991 Jul;30(7):395-8, 454.
25. Human leukocyte antigen in childhood unilateral deafness. Matsuki K, etal., Arch Otolaryngol Head Neck Surg. 1989 Jan;115(1):46-7.
26. Synthetic MHC class I peptide prolongs cardiac survival and attenuates transplant arteriosclerosis in the Lewis-->Fischer 344 model of chronic allograft rejection. Murphy B, etal., Transplantation. 1997 Jul 15;64(1):14-9.
27. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
28. Clinical phenotype is related to HLA genotype in the peripheral arthropathies of inflammatory bowel disease. Orchard TR, etal., Gastroenterology. 2000 Feb;118(2):274-8.
29. Uveitis and erythema nodosum in inflammatory bowel disease: clinical features and the role of HLA genes. Orchard TR, etal., Gastroenterology. 2002 Sep;123(3):714-8.
30. HLA-B27-associated acute anterior uveitis in the University Referral Centre in North Thailand: clinical presentation and visual prognosis. Pathanapitoon K, etal., Br J Ophthalmol. 2006 Dec;90(12):1448-50. Epub 2006 Aug 9.
31. Immune dysfunction and immune restoration disease in HIV patients given highly active antiretroviral therapy. Price P, etal., J Clin Virol. 2001 Oct;22(3):279-87.
32. HLA typing in birdshot chorioretinopathy. Priem HA, etal., Am J Ophthalmol. 1988 Feb 15;105(2):182-5.
33. [Susceptibility genes, HLA and diabetic retinopathy in the Algerian population]. Raache R, etal., J Fr Ophtalmol. 2013 Mar;36(3):247-54. doi: 10.1016/j.jfo.2012.01.008. Epub 2012 Sep 14.
34. MHC-extended haplotypes in families of patients with Graves' disease. Ratanachaiyavong S, etal., Hum Immunol. 1993 Feb;36(2):99-111.
35. [Features of clinical manifestations of the globe, adnexal and orbital sarcoidosis]. Razumova IIu, etal., Vestn Oftalmol. 2013 Mar-Apr;129(2):35-40.
36. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
37. HLA antigens in Asian Indian patients with Graves' disease. Tandon N, etal., Clin Endocrinol (Oxf). 1990 Jul;33(1):21-6.
38. Molecular mimicry as a therapeutic approach for an autoimmune disease: oral treatment of uveitis-patients with an MHC-peptide crossreactive with autoantigen--first results. Thurau SR, etal., Immunol Lett. 1997 Jun 1;57(1-3):193-201.
39. HLA B27 as predisposition factor to suffer age related macular degeneration. Villegas Becerril E, etal., Cell Mol Immunol. 2009 Aug;6(4):303-7. doi: 10.1038/cmi.2009.40.
40. Gamma-delta T cells as orally induced suppressor cells in rats: in vitro characterization. Wildner G, etal., Ann N Y Acad Sci. 2004 Dec;1029:416-21.
41. Characterization of psoriasiform and alopecic skin lesions in HLA-B27 transgenic rats. Yanagisawa H, etal., Am J Pathol. 1995 Oct;147(4):955-64.
42. Influence of human leukocyte antigen in the pathogenesis of Meniere's disease in the South Korean population. Yeo SW, etal., Acta Otolaryngol. 2002 Dec;122(8):851-6.
Additional References at PubMed
PMID:312902   PMID:1686840   PMID:1794054   PMID:2439640   PMID:2581893   PMID:2584927   PMID:2639903   PMID:2983348   PMID:2991930   PMID:3034582   PMID:3335397   PMID:3443307  
PMID:3701254   PMID:4044021   PMID:6088985   PMID:6280871   PMID:6304710   PMID:6399516   PMID:6966299   PMID:8732475   PMID:8833240   PMID:10349636   PMID:11042159   PMID:11076861  
PMID:11217851   PMID:12466851   PMID:12477932   PMID:16141072   PMID:16141073   PMID:18416856   PMID:18541714   PMID:21873635  


Genomics

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:287
Count of miRNA genes:240
Interacting mature miRNAs:254
Transcripts:ENSMUST00000081435, ENSMUST00000173975
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCm39)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
10045977Tir9_mtrypanosome infection response 9 (mouse)Not determined172787811943885114Mouse
26884379Skwq5_mskull length QTL 5, 5 week (mouse)173311897454107028Mouse
1300885Mbis4_mMycobacterium bovis-induced systemic lupus erythematosus 4 (mouse)Not determined173517581770165926Mouse
1300890Bhr3_mbronchial hyperresponsiveness 3 (mouse)Not determined17397489048866091Mouse
11075105Modc1_mmodifier of Odc1 (mouse)172771579245622654Mouse
1300995Fembrs4_mfemur breaking strength 4 (mouse)Not determined171506165249061760Mouse
15039348Nmrs37_mNAFLD-associated magnetic resonance shift 37 (mouse)172781520961815209Mouse
4141357Mrdq1_mmodifier of retinal degeneration QTL 1 (mouse)Not determined3098790348039703Mouse
1302152Skull25_mskull morphology 25 (mouse)Not determined171681972150819843Mouse
1302028Asbb3_mautoimmune susceptibility in C57BL/6J and BALB/c 3 (mouse)Not determined171087811944878219Mouse
15039354Nmrs36_mNAFLD-associated magnetic resonance shift 36 (mouse)171914502553145025Mouse
4141215Mnic1_mmacronutrient intake, carbohydrate 1 (mouse)Not determined485475245670266Mouse
1300787Cd8mts5_mCD8 memory T cell subset 5 (mouse)Not determined17858491442585149Mouse
13524847Asrq8a_macoustic startle response 8a (mouse)171264696146646961Mouse
1300914Pcir4_mperiosteal circumference 4 (mouse)Not determined171506165249061760Mouse
13452396Leusq3_mleucocytosis susceptibility QTL 3 (mouse)171746220851462345Mouse
13452399Leusq6_mleucocytosis susceptibility QTL 6 (mouse)171746220851462345Mouse
1300535Char3_mP. chabaudi malaria resistance QTL 3 (mouse)Not determined171746220851462345Mouse
4140955Plgr1_mplague resistance locus 1 (mouse)Not determined3103350065033630Mouse
1302070Tbbmd7_mtotal body bone mineral density 7 (mouse)Not determined171506165249061760Mouse
10412214Sxbq3_mSGC/Knj cross B6 QTL 3 (mouse)Not determined171746220851462345Mouse
10412083Sm2_msusceptibility to Schistosoma mansoni infection 2 (mouse)Not determined171702994351030078Mouse
10412204Bbaa29_mB.burgdorferi-associated arthritis 29 (mouse)Not determined172605118560051352Mouse
10043949Pbft7_mpercent body fat 7 (mouse)Not determined17689393640893936Mouse
4141067Hbnr2_mHeligmosomoides bakeri nematode resistance 2 (mouse)Not determined1188597145886119Mouse
12904946Tammq8_mtibialis anterior muscle mass QTL 8 (mouse)171245178746451787Mouse
10412198Sst5_msusceptibility to tuberculosis 5 (mouse)Not determined172507658355712970Mouse
4142342Lfnq4_mlung function QTL 4 (mouse)Not determined1120648439364059Mouse
10412196Bbaa28_mB.burgdorferi-associated arthritis 28 (mouse)Not determined172558491443976235Mouse
1301935Skull24_mskull morphology 24 (mouse)Not determined17858491442585149Mouse
1302189Dps3_mdelta power in slow-wave sleep 3 (mouse)Not determined173381972136250180Mouse
1301331Lbw1_mlupus NZB x NZW 1 (mouse)Not determined171841835752420983Mouse
1301840Ssial4_msusceptibility to sialadenitiss 4 (mouse)Not determined171817541252178214Mouse
1300692Blmpf1_mbleomycin-induced pulmonary fibrosis 1 (mouse)Not determined173206165237644775Mouse
1357789Kdnw3_mkidney weight 3 (mouse)Not determined17485475247885665Mouse
1301338Lmr1_mleishmaniasis resistance 1 (mouse)Not determined171008134086996400Mouse
1300703Uvbi2_mUVB induced immunosuppression 2 (mouse)Not determined172862240662622654Mouse
1301056Pas2_mpulmonary adenoma susceptibility 2 (mouse)Not determined171842214152424327Mouse
1301454Eae5_msusceptibility to experimental allergic encephalomyelitis 5 (mouse)Not determined172461275058612864Mouse
14747010Mancz14_mmandible centroid size 14 (mouse)171199818445998184Mouse
1302005Loco2_mlocomotor activity 2 (mouse)Not determined172688497260885114Mouse
4141272Tfv1_mtotal food volume 1 (mouse)Not determined485475265637357Mouse
1300602Eye2_meye weight 2 (mouse)Not determined172650533741105037Mouse
10412276Leci2_mleukocyte endothelial cell interactions 2 (mouse)Not determined17334817537348299Mouse
1302140Wta4_mweight adult 4 (mouse)Not determined171681972150819843Mouse
1300706Alan1_malloantigen response 1 (mouse)Not determined17485475246469702Mouse
1558886Lgth9_mbody length 9 (mouse)Not determined171506165249061760Mouse
1558758Kcal2_mkilocalorie 2 (mouse)Not determined172640101252911704Mouse
4142150Stheal11_msoft tissue heal 11 (mouse)Not determined171228621183361768Mouse
11081168Tir7_mtrypanosome infection response 7 (mouse)171412337248123496Mouse
1300589Myaa2_mmodifier of Yaa 2 (mouse)Not determined173013255564132666Mouse

Markers in Region
H2-Q4  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381735,381,182 - 35,381,397UniSTSGRCm38
MGSCv371735,518,127 - 35,518,342UniSTSGRCm37
Cytogenetic Map17B1UniSTS
cM Map1719.16UniSTS
H2-Q4  
Mouse AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map17B1UniSTS


Sequence


Ensembl Acc Id: ENSMUST00000081435   ⟹   ENSMUSP00000080159
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1735,598,593 - 35,603,650 (+)Ensembl
GRCm38.p6 Ensembl1735,379,617 - 35,384,674 (+)Ensembl
Ensembl Acc Id: ENSMUST00000173975
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1735,598,593 - 35,604,266 (+)Ensembl
GRCm38.p6 Ensembl1735,379,617 - 35,385,290 (+)Ensembl
RefSeq Acc Id: NM_001143689   ⟹   NP_001137161
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm391735,598,593 - 35,603,650 (+)NCBI
GRCm381735,379,617 - 35,384,674 (+)NCBI
MGSCv371735,516,562 - 35,521,619 (+)ENTREZGENE
cM Map17 ENTREZGENE
Sequence:
RefSeq Acc Id: NP_001137161   ⟸   NM_001143689
- Peptide Label: precursor
- UniProtKB: Q95H92 (UniProtKB/TrEMBL),   Q8HWB2 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSMUSP00000080159   ⟸   ENSMUST00000081435
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8HWB2-F1-model_v2 AlphaFold Q8HWB2 1-354 view protein structure

Promoters
RGD ID:13675866
Promoter ID:EPDNEW_M22083
Type:multiple initiation site
Name:H2-Q4_1
Description:Mus musculus histocompatibility 2, Q region locus 4 (H2-Q4),mRNA.
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_M22084  
Experiment Methods:Single-end sequencing.
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm381735,379,617 - 35,379,677EPDNEW
RGD ID:13675874
Promoter ID:EPDNEW_M22084
Type:initiation region
Name:H2-Q4_2
Description:Mus musculus histocompatibility 2, Q region locus 4 (H2-Q4),mRNA.
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_M22083  
Experiment Methods:Single-end sequencing.
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm381735,380,413 - 35,380,473EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene MGI:95933 AgrOrtholog
Ensembl Genes ENSMUSG00000035929 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENSMUST00000081435 ENTREZGENE
  ENSMUST00000081435.5 UniProtKB/TrEMBL
Gene3D-CATH 2.60.40.10 UniProtKB/TrEMBL
  3.30.500.10 UniProtKB/TrEMBL
InterPro Ig-like_dom UniProtKB/TrEMBL
  Ig-like_dom_sf UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/TrEMBL
  Ig/MHC_CS UniProtKB/TrEMBL
  Ig_C1-set UniProtKB/TrEMBL
  MHC_class-I_related UniProtKB/TrEMBL
  MHC_I-like_Ag-recog UniProtKB/TrEMBL
  MHC_I-like_Ag-recog_sf UniProtKB/TrEMBL
  MHC_I/II-like_Ag-recog UniProtKB/TrEMBL
  MHC_I_a_a1/a2 UniProtKB/TrEMBL
KEGG Report mmu:15015 UniProtKB/TrEMBL
MGD MGI:95933 ENTREZGENE
NCBI Gene 15015 ENTREZGENE
PANTHER CLASS IB MHC ANTIGEN QA-2-RELATED UniProtKB/TrEMBL
  MHC CLASS I-RELATED UniProtKB/TrEMBL
Pfam C1-set UniProtKB/TrEMBL
  MHC_I UniProtKB/TrEMBL
PhenoGen H2-Q4 PhenoGen
PRINTS MHCCLASSI UniProtKB/TrEMBL
PROSITE IG_LIKE UniProtKB/TrEMBL
  IG_MHC UniProtKB/TrEMBL
SMART IGc1 UniProtKB/TrEMBL
Superfamily-SCOP MHC_I/II-like_Ag-recog UniProtKB/TrEMBL
  SSF48726 UniProtKB/TrEMBL
UniProt Q0WXH7_MOUSE UniProtKB/TrEMBL
  Q0WXI6_MOUSE UniProtKB/TrEMBL
  Q3UWA5_MOUSE UniProtKB/TrEMBL
  Q8HWB2 ENTREZGENE, UniProtKB/TrEMBL
  Q95H92 ENTREZGENE, UniProtKB/TrEMBL


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-05 H2-Q4  histocompatibility 2, Q region locus 4  H2-Gs10  MHC class I like protein GS10  Data merged from RGD:2302691 737654 PROVISIONAL
2016-02-17 H2-Gs10  MHC class I like protein GS10  H2-gs10    Symbol and/or name change 5135510 APPROVED