FAM210B (family with sequence similarity 210 member B)

Gene

• Entrez ID: 116151
• Gene name: Family with sequence similarity 210 member B
• Gene symbol: FAM210B
• Synonyms (NCBI Gene): 5A3, C20orf108, dJ1167H4.1
• Chromosome: 20
• Chromosome location: 20q13.2

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	IEA
GO:0005741	Component	Mitochondrial outer membrane	IDA	26968549, 28594398
GO:0005741	Component	Mitochondrial outer membrane	IEA
GO:0006954	Process	Inflammatory response	IEA
GO:0016020	Component	Membrane	IDA	26968549
GO:0016020	Component	Membrane	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030218	Process	Erythrocyte differentiation	IEA
GO:0043249	Process	Erythrocyte maturation	IEA
GO:0043588	Process	Skin development	IEA
GO:0045648	Process	Positive regulation of erythrocyte differentiation	IMP	26968549
GO:0048536	Process	Spleen development	IEA
GO:0071392	Process	Cellular response to estradiol stimulus	IDA	26968549
GO:0072593	Process	Reactive oxygen species metabolic process	IEA

Other IDs

• MIM: 618722
• HGNC: 16102
• e!Ensembl: ENSG00000124098

Protein

• UniProt ID: Q96KR6
• Protein name: Protein FAM210B, mitochondrial
• Protein function: Plays a role in erythroid differentiation (PubMed:26968549). Involved in cell proliferation and tumor cell growth suppression (PubMed:28594398). Involved in the metabolic reprogramming of cancer cells in a PDK4-dependent manner (PubMed:28594398)
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF06916	DUF1279	87 → 174	Protein of unknown function (DUF1279)	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in late erythroblast differentiation stages (PubMed:26968549). Underexpressed in ovarian cancer epithelia cells compared with normal human ovarian surface epithelia (PubMed:28594398). {ECO:0000269|PubMed:26968549, ECO:0000269
• Sequence:

  MAGLLALLGPAGRVGARVRPRATWLLGATAPCAPPPLALALLPPRLDARLLRTARGDCRG
  HQDPSQATGTTGSSVSCTEEKKQSKSQQLKKIFQEYGTVGVSLHIGISLISLGIFYMVVS
  SGVDMPAILLKLGFKESLVQSKMAAGTSTFVVAYAIHKLFAPVRISITLVSVPLIVRYFR
  KVGFFKPPAAKP

• Sequence length: 192

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	39198940	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	28594398		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	Pubtator	30227886	Associate	★☆☆☆☆ Found in Text Mining only
Diarrhea	Diarrhea	Pubtator	30227886	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	28594398		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28594398		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	28594398		★☆☆☆☆ Found in Text Mining only