TMEM232 (transmembrane protein 232)

Gene

• Entrez ID: 642987
• Gene name: Transmembrane protein 232
• Gene symbol: TMEM232
• Synonyms (NCBI Gene): -
• Chromosome: 5
• Chromosome location: 5q22.1

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT2130653	hsa-miR-200b	CLIP-seq
MIRT2130654	hsa-miR-200c	CLIP-seq
MIRT2130655	hsa-miR-338-5p	CLIP-seq
MIRT2130656	hsa-miR-429	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001520	Component	Outer dense fiber	IBA
GO:0001520	Component	Outer dense fiber	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0007283	Process	Spermatogenesis	ISS
GO:0016020	Component	Membrane	IEA
GO:0030030	Process	Cell projection organization	IEA
GO:0030317	Process	Flagellated sperm motility	IBA
GO:0030317	Process	Flagellated sperm motility	IEA
GO:0030317	Process	Flagellated sperm motility	ISS
GO:0098544	Process	Maintenance of protein complex location	IEA
GO:0160087	Process	Spermatid cytoplasm removal during spermiation of flagellated sperm	IBA
GO:0160087	Process	Spermatid cytoplasm removal during spermiation of flagellated sperm	IEA

Other IDs

• MIM: 620143
• HGNC: 37270
• e!Ensembl: ENSG00000186952

Protein

• UniProt ID: C9JQI7
• Protein name: Transmembrane protein 232
• Protein function: Plays a critical role for male fertility and sperm motility by regulating sperm cytoplasm removal and maintaining axoneme integrity.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15877	TMEM232	42 → 485	Transmembrane protein family 232	Family

• Sequence:

  MNMPVNKSPMINTCGGISSPYHEELWKLNFQHLSGERGHKSRPTFSITKEFILRFNQTQN
  SKEKEELLELARKIILRCKRKLGLKTLGSGRHVHLPAAWTEVIYLAQCKGEIQDESLNML
  YASLDHASFDYDHLPALFFVAESVLYRLCCDASLKTYLYSVEIKLAKIGYLVFLRLFIFF
  LHGHLESFKQHLLRLQPYLYALSFSGASYHKYPNIFSNVQFILKASEIIGKRELRSESIF
  RPVEDKKRYENTDSDMGGYEINHLLWHCVAAWSCVQNNSPQLNNVLEHLVFHKTQLQKKC
  WLDSVLALLVLGEAAKLNMACLKALMDVVRDFVSSIMSVQNQEESCKVDDFSWAWNVVYI
  YTVILAEICLYAATSDLRKTALIGFCHCKSSQKNILYLDKSVPPELKETSILSLLEYFSS
  KMSENCDQVVWTGYYGLVYNLVKISWELQGDEEQDGLRNMIWQTLQKTKDYEEDVRIQNA
  INIAQAELNDPTDPFTRYSTNISSNVGEEVFSKYIGWRIANTLSKLFFPPIEAHFLPLKK
  PSIKKDQTKYPNKKLESVKKQVLHFTVREHPSVSEIPMFPYPDFFTKADKELAKIIDHHW
  QEELKIREKEDAICKAQELKDKKLAEKNHFQEVMKKREEKLHKQTKPYELPYRKEVI

• Sequence length: 657

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
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC RHINOSINUSITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NASAL DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Asthma	Asthma	Pubtator	22545103	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dermatitis Atopic	Atopic dermatitis	Pubtator	22545103, 28351738, 34750414, 39596646	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	GWASDB_DG	21666691		★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	28351738, 29949836		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	28351738, 29949836		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	31064978	Associate	★☆☆☆☆ Found in Text Mining only