HMHB1 (histocompatibility minor HB-1)

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Gene Gene information from NCBI Gene database.
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Entrez ID 57824
Gene name Histocompatibility minor HB-1
Gene symbol HMHB1
Synonyms (NCBI Gene)
HB-1HB-1YHLA-HB1
Chromosome 5
Chromosome location 5q31.3
Summary This gene encodes one of the minor histocompatibility antigens, which play an important role in the induction of cytotoxic T lymphocyte (CTL) reactivity against leukemia after human histocompatibility leukocyte antigen (HLA)-identical allogeneic bone marr
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
6 Show/Hide all (6)
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GO ID Ontology Definition Evidence Reference
GO:0002250 Process Adaptive immune response IEA
GO:0002376 Process Immune system process IEA
GO:0010468 Process Regulation of gene expression IDA 8992968
GO:0032729 Process Positive regulation of type II interferon production IDA 8992968
GO:0032729 Process Positive regulation of type II interferon production IMP 9892612
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
609961 29677 ENSG00000158497
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O97980
Protein name Minor histocompatibility protein HB-1 [Cleaved into: Minor histocompatibility antigen HB-1 (mHag HB-1)]
Protein function Precursor of the histocomplatibility antigen HB-1. More generally, minor histocomplatibility antigens (mHags) refer to immunogenic peptide which, when complexed with MHC, can generate an immune response after recognition by specific T-cells. The
Family and domains
Tissue specificity TISSUE SPECIFICITY: Expressed in acute lymphoblastic leukemia B-cells and Epstein-Barr virus-transformed B-cells. {ECO:0000269|PubMed:8992968, ECO:0000269|PubMed:9892612}.
Sequence 
MEEQPECREEKRGSLHVWKSELVEVEDDVYLRHSSSLTYRL
Sequence length 41
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
10
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Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (10)
Phenotype Name Clinical Significance Source Reference Evidence Score
BIPOLAR DISORDER — GWAS catalog 24322204
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER — GWAS catalog 37359372
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER — GWAS catalog 27089181
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OBSTRUCTIVE SLEEP APNEA — GWAS catalog 26977737
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS — GWAS catalog 40205036
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acoustic Neuroma Acoustic Neuroma BEFREE 30570604
★★★★★
★☆☆☆☆
Found in Text Mining only
Leukemia Leukemia Pubtator 12355426 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only

No strongly related genes found yet for HMHB1.

No additional diseases found yet through genes similar to HMHB1.