• Gene id: 121601

Gene Summary

• Gene Symbol: ANO4   Gene   UCSC   Ensembl
• Aliases: TMEM16D
• Gene name: anoctamin 4
• Alternate names: anoctamin-4, transmembrane protein 16D,
• Gene location: 12q23.1 (100717456: 101128640)     Exons: 33     NC_000012.12
• OMIM: 601268

Protein Summary

• Protein general information: Q32M45  
  • Name: Anoctamin 4 (Transmembrane protein 16D)
  • Length: 955  
  • Mass: 111462
• Sequence:

  MEASSSGITNGKTKVFHPEGGVDLQGYQLDMQILPDGPKSDVDFSEILNAIQEMAKDVNILFDELEAVSSPCKDD
  DSLLHPGNLTSTSDDASRLEAGGETVPERNKSNGLYFRDGKCRIDYILVYRKSNPQTEKREVFERNIRAEGLQME
  KESSLINSDIIFVKLHAPWEVLGRYAEQMNVRMPFRRKIYYLPRRYKFMSRIDKQISRFRRWLPKKPMRLDKETL
  PDLEENDCYTAPFSQQRIHHFIIHNKETFFNNATRSRIVHHILQRIKYEEGKNKIGLNRLLTNGSYEAAFPLHEG
  SYRSKNSIRTHGAENHRHLLYECWASWGVWYKYQPLDLVRRYFGEKIGLYFAWLGWYTGMLFPAAFIGLFVFLYG
  VTTLDHSQVSKEVCQATDIIMCPVCDKYCPFMRLSDSCVYAKVTHLFDNGATVFFAVFMAVWATVFLEFWKRRRA
  VIAYDWDLIDWEEEEEEIRPQFEAKYSKKERMNPISGKPEPYQAFTDKCSRLIVSASGIFFMICVVIAAVFGIVI
  YRVVTVSTFAAFKWALIRNNSQVATTGTAVCINFCIIMLLNVLYEKVALLLTNLEQPRTESEWENSFTLKMFLFQ
  FVNLNSSTFYIAFFLGRFTGHPGAYLRLINRWRLEECHPSGCLIDLCMQMGIIMVLKQTWNNFMELGYPLIQNWW
  TRRKVRQEHGPERKISFPQWEKDYNLQPMNAYGLFDEYLEMILQFGFTTIFVAAFPLAPLLALLNNIIEIRLDAY
  KFVTQWRRPLASRAKDIGIWYGILEGIGILSVITNAFVIAITSDFIPRLVYAYKYGPCAGQGEAGQKCMVGYVNA
  SLSVFRISDFENRSEPESDGSEFSGTPLKYCRYRDYRDPPHSLVPYGYTLQFWHVLAARLAFIIVFEHLVFCIKH
  LISYLIPDLPKDLRDRMRREKYLIQEMMYEAELERLQKERKERKKNGKAHHNEWP

• Structural information:
  • Interpro: IPR032394  IPR007632  IPR031293  
  • STRING: ENSP00000376703
• Other Databases: GeneCards:  ANO4  Malacards:  ANO4

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:0061588	calcium activated phospholipid scrambling	IEA	biological process
GO:0046983	protein dimerization activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma 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: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:0006821	chloride transport	IDA	biological process
GO:0005229	intracellular calcium activated chloride channel activity	IDA	molecular function
GO:0005886	plasma membrane	IDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq