• Gene id: 57719

Gene Summary

• Gene Symbol: ANO8   Gene   UCSC   Ensembl
• Aliases: KIAA1623, TMEM16H
• Gene name: anoctamin 8
• Alternate names: anoctamin-8, transmembrane protein 16H,
• Gene location: 19p13.11 (17334854: 17323222)     Exons: 18     NC_000019.10
• OMIM: 606214

Protein Summary

• Protein general information: Q9HCE9  
  • Name: Anoctamin 8 (Transmembrane protein 16H)
  • Length: 1232  
  • Mass: 136034
  • Tissue specificity: Expressed in embryonic stem cells, fetal brain and neural tissues. {ECO
• Sequence:

  MAEAASGAGGTSLEGERGKRPPPEGEPAAPASGVLDKLFGKRLLQAGRYLVSHKAWMKTVPTENCDVLMTFPDTT
  DDHTLLWLLNHIRVGIPELIVQVRHHRHTRAYAFFVTATYESLLRGADELGLRKAVKAEFGGGTRGFSCEEDFIY
  ENVESELRFFTSQERQSIIRFWLQNLRAKQGEALHNVRFLEDQPIIPELAARGIIQQVFPVHEQRILNRLMKSWV
  QAVCENQPLDDICDYFGVKIAMYFAWLGFYTSAMVYPAVFGSVLYTFTEADQTSRDVSCVVFALFNVIWSTLFLE
  EWKRRGAELAYKWGTLDSPGEAVEEPRPQFRGVRRISPITRAEEFYYPPWKRLLFQLLVSLPLCLACLVCVFLLM
  LGCFQLQELVLSVKGLPRLARFLPKVMLALLVSVSAEGYKKLAIWLNDMENYRLESAYEKHLIIKVVLFQFVNSY
  LSLFYIGFYLKDMERLKEMLATLLITRQFLQNVREVLQPHLYRRLGRGELGLRAVWELARALLGLLSLRRPAPRR
  LEPQADEGGGGGSGGGGRRCLSGGCGAPEEEEEAALVERRRAGEGGEEGDGPPGGKEEDEDDEEEEDEEEEEDEE
  EGEEGGLLDCGLRLKKVSFAERGAGRRRPGPSPEALLEEGSPTMVEKGLEPGVFTLAEEDDEAEGAPGSPEREPP
  AILFRRAGGEGRDQGPDGGPDPEPGSNSDSTRRQRRQNRSSWIDPPEEEHSPQLTQAELESCMKKYEDTFQDYQE
  MFVQFGYVVLFSSAFPLAALCALVNNLIEIRSDAFKLCTGLQRPFGQRVESIGQWQKVMEAMGVLAIVVNCYLIG
  QCGQLQRLFPWLSPEAAIVSVVVLEHFALLLKYLIHVAIPDIPGWVAEEMAKLEYQRREAFKRHERQAQHRYQQQ
  QRRRREEEERQRHAEHHARREHDSGGREEARAEGSGLDPATSSEKASAKAKGSTAGGHGPERPKRPGSLLAPNNV
  MKLKQIIPLQGKFLSSGATSSLAAAGAGATTRPPPAQSPTGSDTRLPAFLSFKFLKSPETRRDSERSHSPPKAFH
  AGKLFPFGGTRAEPGSNGAGGQARPDGTPSSGSSRVQRSGPVDEALAEELEAPRPEEEGSGTALAPVGAPALRTR
  RSRSPAPPPPMPLPRPPTPPAGCWQWDGPWGCGGEGAAPRQALAAAECPPCAMAGPPPAPQPLPGDASFYSLPPP
  PLPPTSDPLETPAPSPSPSPSPQAVCWPSGWH

• Structural information:
  • Interpro: IPR007632  IPR031289  
  • STRING: ENSP00000159087
• Other Databases: GeneCards:  ANO8  Malacards:  ANO8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005886	plasma membrane	IBA	cellular component
GO:0055085	transmembrane transport	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:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0034220	ion transmembrane transport	TAS	biological process
GO:0044267	cellular protein metabolic process	TAS	biological process
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0043687	post-translational protein modification	TAS	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:1902476	chloride transmembrane transport	IEA	biological process
GO:1902476	chloride transmembrane transport	IEA	biological process
GO:1902476	chloride transmembrane transport	IEA	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

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