H2-L MGI Mouse Gene Detail - MGI:95912 - histocompatibility 2, D region locus L

H2-L Gene Detail

Symbol

H2-L
Name

histocompatibility 2, D region locus L
Synonyms

H-2L

Feature Type

protein coding gene
IDs

MGI:95912
Alliance

gene page

Sequence Map

Genome coordinates not available from the current reference assembly.

Genetic Map

Chromosome 17, Syntenic
Mapping Data

3 experiments

RFLP

12

Strain-Specific Marker

Human Ortholog

HLA-B, major histocompatibility complex, class I, B

Vertebrate Orthologs

13

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

HLA-B, major histocompatibility complex, class I, B
Synonyms

AS, B-4901, HLAB
Links

HGNC:4932

NCBI Gene ID: 3106

neXtProt AC: NX_P01889

UniProt: P01889
Chr Location

6p21.33; chr6:31353872-31367067 (-) GRCh38

Human Ortholog

HLA-C, major histocompatibility complex, class I, C
Synonyms

D6S204, HLAC, HLA-JY3, HLC-C, MHC, PSORS1
Links

HGNC:4933

NCBI Gene ID: 3107

neXtProt AC: NX_P10321

UniProt: P10321
Chr Location

6p21.33; chr6:31268749-31272130 (-) GRCh38

Human Ortholog

HLA-E, major histocompatibility complex, class I, E
Synonyms

HLA-6.2, QA1
Links

HGNC:4962

NCBI Gene ID: 3133

neXtProt AC: NX_P13747

UniProt: P13747
Chr Location

6p22.1; chr6:30489509-30494194 (+) GRCh38

Human Ortholog

HLA-H, major histocompatibility complex, class I, H (pseudogene)
Synonyms

HLAHP
Links

HGNC:4965

NCBI Gene ID: 3136

UniProt: P01893
Chr Location

6p22.1; chr6:29887573-29891079 (+) GRCh38

MGI Vertebrate Homology

H2-L stringent orthology
4 human;1 mouse;1 rat;8 zebrafish
HCOP

vertebrate homology predictions: HLA-B, HLA-C, HLA-E, HLA-H

Diseases

45 with human HLA-A,HLA-B,HLA-C,HLA-E,HLA-G associations

				Human Disease	Mouse Models
				acquired immunodeficiency syndrome IDs acquired immunodeficiency syndrome DOID:635 EFO:0000765 ICD10CM:B20 MESH:D000163 NCI:C2851 UMLS_CUI:C0001175
				acute retinal necrosis syndrome IDs acute retinal necrosis syndrome DOID:3611 MESH:D015882 UMLS_CUI:C0035319
				allergic asthma IDs allergic asthma DOID:9415 DOID:9416 DOID:9417 ICD10CM:J45 ICD9CM:493.0 UMLS_CUI:C0155877
				alopecia IDs alopecia DOID:987 ICD10CM:L65.9 ICD9CM:704.0 ICD9CM:704.00 MESH:D000505 NCI:C50575 OMIM:PS203655 UMLS_CUI:C0002170
				ankylosing spondylitis IDs ankylosing spondylitis DOID:7147 EFO:0003898 ICD10CM:M45 ICD9CM:720.0 MESH:D013167 NCI:C84564 OMIM:PS106300 ORDO:825 UMLS_CUI:C0038013
				anterior uveitis IDs anterior uveitis DOID:1407 MESH:D014606 NCI:C35109 UMLS_CUI:C0042165
				asthma IDs asthma DOID:2841 DOID:12703 DOID:13829 DOID:13830 DOID:2840 DOID:5783 ICD10CM:J45 ICD9CM:493 ICD9CM:493.9 KEGG:05310 MESH:D001249 NCI:C28397 OMIM:600807 UMLS_CUI:C0004096
				Behcet's disease IDs Behcet's disease DOID:13241 EFO:0003780 ICD10CM:M35.2 ICD9CM:136.1 ICD9CM_2006:136.1 MESH:D001528 NCI:C34416 OMIM:109650 UMLS_CUI:C0004943
				birdshot chorioretinopathy IDs birdshot chorioretinopathy DOID:0111079 MESH:D000080365 OMIM:605808 ORDO:179 UMLS_CUI:C1853959
				central nervous system vasculitis IDs central nervous system vasculitis DOID:525 MESH:D020293 NCI:C84622 UMLS_CUI:C0751878
				cerebral infarction IDs cerebral infarction DOID:3526 ICD10CM:I63 MESH:D002544 NCI:C50486 OMIM:601367 UMLS_CUI:C0007785
				cervical cancer IDs cervical cancer DOID:4362 DOID:4361 ICD10CM:C53 ICD9CM:180 ICD9CM:180.9 MESH:D002583 NCI:C2940 NCI:C9311 OMIM:603956 UMLS_CUI:C0007847 UMLS_CUI:C0007873
				colitis IDs colitis DOID:0060180 EFO:0003872 ICD10CM:K52.9 MESH:D003092 NCI:C26723 UMLS_CUI:C0009319
				COVID-19 IDs COVID-19 DOID:0080600 ICD10CM:U07.1 MESH:D000086382 NCI:C171133 UMLS_CUI:C5203670
				Cytomegalovirus retinitis IDs Cytomegalovirus retinitis DOID:0080160 MESH:D017726
				dermatitis IDs dermatitis DOID:2723 DOID:8614 DOID:8917 ICD10CM:L30.9 MESH:D003872 NCI:C2983 UMLS_CUI:C0011603
				diabetic retinopathy IDs diabetic retinopathy DOID:8947 ICD9CM:362.0 MESH:D003930 NCI:C34538 UMLS_CUI:C0011884
				erythema nodosum IDs erythema nodosum DOID:0080750 MESH:D004893
				Graves' disease IDs Graves' disease DOID:12361 EFO:0004237 ICD10CM:E05.0 MESH:D006111 NCI:C3071 OMIM:275000 UMLS_CUI:C0018213
				hepatitis C IDs hepatitis C DOID:1883 DOID:12430 DOID:12432 DOID:2049 EFO:0003047 ICD10CM:B19.20 ICD9CM:070.7 MESH:D006526 NCI:C3098 UMLS_CUI:C0019196
				human immunodeficiency virus infectious disease IDs human immunodeficiency virus infectious disease DOID:526 ICD10CM:B20 ICD9CM:042 ICD9CM:042-042.99 MESH:D015658 NCI:C3108 UMLS_CUI:C0019693
				Meniere's disease IDs Meniere's disease DOID:9849 ICD10CM:H81.0 ICD9CM:386.0 ICD9CM:386.00 MESH:D008575 NCI:C185243 OMIM:156000 UMLS_CUI:C0025281
				mitral valve prolapse IDs mitral valve prolapse DOID:988 MESH:D008945 NCI:C50655 OMIM:157700 OMIM:607829 OMIM:610840 UMLS_CUI:C0026267
				Moyamoya disease IDs Moyamoya disease DOID:13099 ICD10CM:I67.5 ICD9CM:437.5 MESH:D009072 NCI:C84895 OMIM:252350 OMIM:300845 OMIM:607151 OMIM:608796 OMIM:614042 OMIM:615750 ORDO:2573 ORDO:280679 ORDO:401945 UMLS_CUI:C0026654
				occupational asthma IDs occupational asthma DOID:0080820
				otosclerosis IDs otosclerosis DOID:12185 EFO:0004213 ICD10CM:H80.80 ICD9CM:387.8 OMIM:PS166800 ORDO:2794 UMLS_CUI:C0029696
				pre-eclampsia IDs pre-eclampsia DOID:10591 DOID:12684 ICD10CM:O14 MESH:D011225 NCI:C85021 OMIM:189800 OMIM:609402 OMIM:609403 OMIM:609404 OMIM:614592 ORDO:275555 UMLS_CUI:C0032914
				psoriasis 1 IDs psoriasis 1 DOID:0111286 OMIM:177900
				reactive arthritis IDs reactive arthritis DOID:6196 DOID:10148 DOID:11891 DOID:13318 DOID:13519 DOID:13782 DOID:13783 DOID:13784 DOID:13785 DOID:6194 DOID:9760 ICD10CM:M02.10 ICD10CM:M02.3 ICD9CM:099.3 ICD9CM:711.3 ICD9CM:711.30 MESH:D016918 NCI:C34975 UMLS_CUI:C0035012 UMLS_CUI:C0152085
				retinal vasculitis IDs retinal vasculitis DOID:11563 ICD10CM:H35.06 ICD9CM:362.18 MESH:D031300 UMLS_CUI:C0152026
				retinopathy of prematurity IDs retinopathy of prematurity DOID:13025 ICD10CM:H35.1 ICD9CM_2006:362.21 ICD9CM:362.20 ICD9CM:362.21 MESH:D012178 NCI:C34982 UMLS_CUI:C0035344
				sarcoidosis IDs sarcoidosis DOID:11335 ICD10CM:D86 ICD9CM:135 MESH:D012507 NCI:C34995 ORDO:797 UMLS_CUI:C0036202
				scleroderma IDs scleroderma DOID:419 MESH:D012594 NCI:C26746 UMLS_CUI:C0011644
				sensorineural hearing loss IDs sensorineural hearing loss DOID:10003 DOID:11053 DOID:12112 DOID:12114 ICD10CM:H90.5 ICD9CM_2006:389.11 ICD9CM_2006:389.14 ICD9CM:389.1 ICD9CM:389.10 ICD9CM:389.14 MESH:D006319 NCI:C26739 UMLS_CUI:C0018784
				severe acute respiratory syndrome IDs severe acute respiratory syndrome DOID:2945 ICD10CM:J12.81 ICD9CM:079.82 MESH:D045169 NCI:C85064 UMLS_CUI:C1175175
				spondyloarthropathy IDs spondyloarthropathy DOID:1123 MESH:D025242 UMLS_CUI:C0949691
				Stevens-Johnson syndrome IDs Stevens-Johnson syndrome DOID:0050426 EFO:0004276 ICD10CM:L51.1 ICD9CM:695.13 ICD9CM:695.15 MESH:D013262 NCI:C79484 UMLS_CUI:C0038325
				synovitis IDs synovitis DOID:2703 MESH:D013585 NCI:C50766 UMLS_CUI:C0039103
				Takayasu's arteritis IDs Takayasu's arteritis DOID:2508 DOID:13377 ICD10CM:M31.4 ICD9CM:446.7 MESH:D001015 MESH:D013625 NCI:C34391 NCI:C35062 OMIM:207600 UMLS_CUI:C0003490 UMLS_CUI:C0039263
				thromboangiitis obliterans IDs thromboangiitis obliterans DOID:12918 ICD10CM:I73.1 ICD9CM:443.1 MESH:D013919 NCI:C35070 OMIM:211480 UMLS_CUI:C0040021
				thrombophlebitis IDs thrombophlebitis DOID:3875 DOID:1146 ICD10CM:I80.0 ICD9CM_2006:451.0 ICD9CM:451.0 MESH:D013924 NCI:C3410 UMLS_CUI:C0040046 UMLS_CUI:C0265057
				trachoma IDs trachoma DOID:11265 DOID:13013 DOID:13264 ICD10CM:A71 ICD10CM:A71.0 ICD10CM:A71.1 ICD9CM:076 ICD9CM:076.0 ICD9CM:076.1 ICD9CM:076.9 MESH:D014141 UMLS_CUI:C0040592 UMLS_CUI:C0153107 UMLS_CUI:C0153108
				tuberculosis IDs tuberculosis DOID:399 DOID:10096 DOID:12688 DOID:12691 DOID:415 DOID:9901 DOID:9902 MESH:D014375 UMLS_CUI:C0041295
				uveitis IDs uveitis DOID:13141 ICD10CM:H20.9 MESH:D014605 NCI:C26909 UMLS_CUI:C0042164
				vulva cancer IDs vulva cancer DOID:1245 DOID:1282 ICD10CM:C51 ICD9CM:184.4 MESH:D014846 NCI:C3443 NCI:C7502 UMLS_CUI:C0042995 UMLS_CUI:C0375071

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

3 phenotypes from 1 allele in 2 genetic backgrounds
3 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

4
Transgenic

4
Find Mice (IMSR)

1 strains or lines available

Expression of this gene protects neurological tissue against Toxoplasma gondii infection.

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All GO Annotations

38
GO References

5

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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cDNA Data

6
Literature Summary

1

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All Sequences

8
UniProt

1

			Length	Strain/Species	Flank
genomic	V00752	GenBank \| ENA \| DDBJ \| MGI Sequence Detail	2570	Not Specified	± kb
transcript	J00394	GenBank \| ENA \| DDBJ \| MGI Sequence Detail	479	Not Specified
polypeptide	P01897	UniProt \| EBI \| MGI Sequence Detail	362	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000002008 H-2 class I histocompatibility antigen L alpha chain

(term hierarchy)
PDB

1LD9, 1LDP, 2E7L, 2OI9, 3E2H, 3E3Q, 3ERY, 3TF7, 3TFK, 3TJH, 3TPU, 3UO1, 3UYR, 3V4U, 3V52, 3VJ6, 4MS8, 4MVB, 4MXQ, 4N0C, 4N5E, 4NHU, 5VCL, 6L9K, 6L9L, 6L9M, 6L9N, 8D5N, 8D5Q, 8UMO
InterPro Domains

IPR050208 Antigen-presenting and immune regulatory MHC class I-related

IPR003597 Immunoglobulin C1-set

IPR007110 Immunoglobulin-like domain

IPR036179 Immunoglobulin-like domain superfamily

IPR013783 Immunoglobulin-like fold

IPR003006 Immunoglobulin/major histocompatibility complex, conserved site

IPR011162 MHC classes I/II-like antigen recognition protein

IPR001039 MHC class I alpha chain, alpha1 alpha2 domains

IPR010579 MHC class I, alpha chain, C-terminal

IPR011161 MHC class I-like antigen recognition-like

IPR037055 MHC class I-like antigen recognition-like superfamily
GlyGen

P01897 3 sites

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All nucleic 60

Genomic 43

cDNA 7

Primer pair 1

Other 9

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MGD-MRK-10397, MGD-MRK-10508

Summaries

All 39

Developmental Gene Expression 1

Gene Ontology 5

Phenotypes 3
Earliest

J:6552 Morgan GM, et al., Implication of the H-2L locus in hybrid histocompatibility (Hh-1). Transplantation. 1981 Jun;31(6):417-22
Latest

J:324035 Tsitsiklis A, et al., An Unusual MHC Molecule Generates Protective CD8+ T Cell Responses to Chronic Infection. Front Immunol. 2020;11:1464

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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