SMIM20 (small integral membrane protein 20)

Gene

• Entrez ID: 389203
• Gene name: Small integral membrane protein 20
• Gene symbol: SMIM20
• Synonyms (NCBI Gene): C4orf52, MITRAC7, PNX
• Chromosome: 4
• Chromosome location: 4p15.2

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	26321642
GO:0005576	Component	Extracellular region	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IBA
GO:0005743	Component	Mitochondrial inner membrane	IDA	26321642
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0016020	Component	Membrane	IEA
GO:0033617	Process	Mitochondrial cytochrome c oxidase assembly	IBA
GO:0033617	Process	Mitochondrial cytochrome c oxidase assembly	IDA	26321642
GO:0033617	Process	Mitochondrial cytochrome c oxidase assembly	IEA

Other IDs

• MIM: 617465
• HGNC: 37260
• e!Ensembl: ENSG00000250317

Protein

• UniProt ID: Q8N5G0
• Protein name: Small integral membrane protein 20 (Mitochondrial translation regulation assembly intermediate of cytochrome c oxidase protein of 7 kDa) (MITRAC7) [Cleaved into: Phoenixin-14 (PNX-14); Phoenixin-20 (PNX-20)]
• Protein function: [Small integral membrane protein 20]: Component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, that regulates cytochrome c oxidase assembly (PubMed:26321642). Promotes the prog
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15061	DUF4538	2 → 58	Domain of unknown function (DUF4538)	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the ovary, specifically in granulosa cells of follicles that have passed the primary stage and in oocytes (at protein level). {ECO:0000269|PubMed:30933929}.
• Sequence:

  MSRNLRTALIFGGFISLIGAAFYPIYFRPLMRLEEYKKEQAINRAGIVQEDVQPPGLKVW
  SDPFGRK

• Sequence length: 67

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
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Anorexia Nervosa	Anorexia	BEFREE	29253527, 31736434		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	27989611, 28176660, 28911868, 29253527, 29671415, 30953667		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	27989611, 28176660, 28911868, 29253527, 29671415, 30953667		★☆☆☆☆ Found in Text Mining only
Eating Disorders	Eating Disorders	BEFREE	31736434		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	36706704	Associate	★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	31736434		★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	28552081		★☆☆☆☆ Found in Text Mining only