• Gene id: 338440

Gene Summary

• Gene Symbol: ANO9   Gene   UCSC   Ensembl
• Aliases: PIG5, TMEM16J, TP53I5
• Gene name: anoctamin 9
• Alternate names: anoctamin-9, p53-induced gene 5 protein, transmembrane protein 16J, tumor protein p53-inducible protein 5,
• Gene location: 11p15.5 (442010: 417933)     Exons: 2     NC_000011.10
• Gene summary(Entrez): The protein encoded by this gene is a member of the TMEM16 (anoctamin) family of proteins, some of which form integral membrane calcium-activated chloride channels. The function of the encoded protein has yet to be elucidated, although it may have channel

Protein Summary

• Protein general information: A1A5B4  
  • Name: Anoctamin 9 (Transmembrane protein 16J) (Tumor protein p53 inducible protein 5) (p53 induced gene 5 protein)
  • Length: 782  
  • Mass: 90333
• Sequence:

  MQGEESLRILVEPEGDSFPLMEISTCETEASEQWDYVLVAQRHTQRDPRQARQQQFLEELRRKGFHIKVIRDQKQ
  VFFGIRADNSVFGLYRTLLLEPEGPAPHAELAAPTTIPVTTSLRIRIVNFVVMNNKTSAGETFEDLMKDGVFEAR
  FPLHKGEGRLKKTWARWRHMFREQPVDEIRNYFGEKVALYFVWLGWYTYMLVPAALTGLLVFLSGFSLFEASQIS
  KEICEAHDILMCPLGDHSRRYQRLSETCTFAKLTHLFDNDGTVVFAIFMALWATVFLEIWKRQRARVVLHWDLYV
  WDEEQEEMALQLINCPDYKLRPYQHSYLRSTVILVLTLLMICLMIGMAHVLVVYRVLASALFSSSAVPFLEEQVT
  TAVVVTGALVHYVTIIIMTKINRCVALKLCDFEMPRTFSERESRFTIRFFTLQFFTHFSSLIYIAFILGRINGHP
  GKSTRLAGLWKLEECHASGCMMDLFVQMAIIMGLKQTLSNCVEYLVPWVTHKCRSLRASESGHLPRDPELRDWRR
  NYLLNPVNTFSLFDEFMEMMIQYGFTTIFVAAFPLAPLLALFSNLVEIRLDAIKMVWLQRRLVPRKAKDIGTWLQ
  VLETIGVLAVIANGMVIAFTSEFIPRVVYKYRYSPCLKEGNSTVDCLKGYVNHSLSVFHTKDFQDPDGIEGSENV
  TLCRYRDYRNPPDYNFSEQFWFLLAIRLAFVILFEHVALCIKLIAAWFVPDIPQSVKNKVLEVKYQRLREKMWHG
  RQRLGGVGAGSRPPMPAHPTPASIFSARSTDV

• Structural information:
  • Interpro: IPR007632  IPR031290  
  • STRING: ENSP00000332788
• Other Databases: GeneCards:  ANO9  Malacards:  ANO9

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0017128	phospholipid scramblase activity	IBA	molecular function
GO:0061591	calcium activated galactosylceramide scrambling	IBA	biological process
GO:1902476	chloride transmembrane transport	IBA	biological process
GO:0005254	chloride channel activity	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0055085	transmembrane transport	IBA	biological process
GO:0061589	calcium activated phosphatidylserine scrambling	IBA	biological process
GO:0061590	calcium activated phosphatidylcholine scrambling	IBA	biological process
GO:0005229	intracellular calcium activated chloride channel activity	IDA	NOT|molecular function
GO:0005229	intracellular calcium activated chloride channel activity	IDA	NOT|molecular function
GO:0061588	calcium activated phospholipid scrambling	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006869	lipid transport	IEA	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0034220	ion transmembrane transport	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0061591	calcium activated galactosylceramide scrambling	IEA	biological process
GO:0017128	phospholipid scramblase activity	IEA	molecular function
GO:0061590	calcium activated phosphatidylcholine scrambling	IEA	biological process
GO:0061589	calcium activated phosphatidylserine scrambling	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:1902939	negative regulation of intracellular calcium activated chloride channel activity	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0005229	intracellular calcium activated chloride channel activity	IMP	molecular function
GO:0006821	chloride transport	IMP	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq