FAM220A (family with sequence similarity 220 member A)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 84792
Gene name Family with sequence similarity 220 member A
Gene symbol FAM220A
Synonyms (NCBI Gene)
ACPIN1C7orf70SIPARSMIM10L3
Chromosome 7
Chromosome location 7p22.1
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
9
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (9)
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IBA
GO:0001669 Component Acrosomal vesicle IEA
GO:0001669 Component Acrosomal vesicle ISS
GO:0005515 Function Protein binding IPI 32296183
GO:0005634 Component Nucleus IBA
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
616628 22422 ENSG00000178397
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.
Q7Z4H9
Protein name Protein FAM220A (STAT3-interacting protein as a repressor)
Protein function Promotes dephosphorylation of transcriptional activator STAT3 by interacting with both STAT3 and protein phosphatase PTPN2. This promotes interaction of PTPN2 with STAT3 and mediates STAT3 dephosphorylation by PTPN2, leading to negative regulati
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15487 FAM220 2 → 253 FAM220 family Family
Sequence
Sequence length 259
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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 (2)
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
ASTHMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEMENTIA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (2)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Carcinoma Squamous Cell Associate 28099906
★★★★★
★☆☆☆☆
Found in Text Mining only
Pancreatic Neoplasms Associate 28099906
★★★★★
★☆☆☆☆
Found in Text Mining only