HMHB1 (histocompatibility minor HB-1)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
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
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (6)
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.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
609961 29677 ENSG00000158497
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
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
Gene Gene ontology Other IDs Protein Associated diseases
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)
Show/Hide Unknown Diseases (10)
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.
Phenotype Name Clinical Significance Source Evidence Score
BIPOLAR DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OBSTRUCTIVE SLEEP APNEA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (4)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Charcot Marie Tooth disease Type 2A Associate 32245838
★★★★★
★☆☆☆☆
Found in Text Mining only
Leukemia Associate 12355426
★★★★★
★☆☆☆☆
Found in Text Mining only
Leukemia Biphenotypic Acute Associate 9892612
★★★★★
★☆☆☆☆
Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma Associate 9892612
★★★★★
★☆☆☆☆
Found in Text Mining only