H2AP (H2A.P histone)

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Gene Gene information from NCBI Gene database.
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Entrez ID 25763
Gene name H2A.P histone
Gene symbol H2AP
Synonyms (NCBI Gene)
CXorf27HIP17HYPM
Chromosome X
Chromosome location Xp11.4
Summary This gene encodes a protein shown to interact with huntingtin, which contains an expanded polyglutamine tract in individuals with Huntington`s disease (PMID: 9700202). [provided by RefSeq, Aug 2011]
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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GO ID Ontology Definition Evidence Reference
GO:0000786 Component Nucleosome IBA
GO:0005515 Function Protein binding IPI 23275563, 25416956, 32296183, 32814053, 33961781
GO:0005634 Component Nucleus IBA
GO:0030527 Function Structural constituent of chromatin IBA
GO:0031507 Process Heterochromatin formation IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
HGNC N/A HGNC
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.
O75409
Protein name Huntingtin-interacting protein M (Histone H2A.P) (Huntingtin yeast partner M)
Family and domains
Sequence 
MSEKKNCKNSSTNNNQTQDPSRNELQVPRSFVDRVVQDERDVQSQSSSTINTLLTLLDCL
ADYIMERVGLEASNNGSMRNTSQDREREVDNNREPHSAESDVTRFLFDEMPKSRKND
Sequence length 117
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Short stature Pathogenic rs1569148952 RCV000736186
★★★★★
★★★★☆
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.
Phenotype Name Clinical Significance Source Reference Evidence Score
CROHN'S DISEASE — GWAS catalog 40465716
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PRIMARY ALDOSTERONISM — GWAS catalog 36802911
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations

No strongly related genes found yet for H2AP.

No additional diseases found yet through genes similar to H2AP.