1. Gene
  2. ANO9 - anoctamin 9 Gene

ANO9 - anoctamin 9 Gene

Homo sapiens

Also known as PIG5; TP53I5; TMEM16J

Gene ID: 338440 | Gene type: protein coding

About ANO9

Cytogenetic location: 11p15.5 Genomic coordinates (GRCh38): 11:417,938-442,011 (from NCBI)

This gene has 8 transcripts (splice variants), 253 orthologues and 10 paralogues. Broad expression in skin (RPKM 19.3), duodenum (RPKM 19.0) and 14 other tissues.

Summary

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-forming abilities and also may have phospholipid scramblase activity. This gene has been observed to be upregulated in stage II and III colorectal cancers. [provided by RefSeq, Dec 2016]

ANO9 Products(2)

mRNA Protein Name
NM_001012302.3 NP_001012302.2 anoctamin-9 isoform 1
NM_001347882.2 NP_001334811.1 anoctamin-9 isoform 2
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables calcium channel activity IMP
IMP: Inferred from mutant phenotype
36520003 GOA
enables channel activity IDA
IDA: Inferred from direct assay
29604966 GOA
enables chloride channel inhibitor activity IDA
IDA: Inferred from direct assay
22946059 GOA
NOT enables intracellularly calcium-gated chloride channel activity IDA
IDA: Inferred from direct assay
21984732 GOA
enables intracellularly calcium-gated chloride channel activity IMP
IMP: Inferred from mutant phenotype
22946059 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
21525870 GOA
Biological Process GO Annotation Evidence Reference Source
involved in chloride transmembrane transport IMP
IMP: Inferred from mutant phenotype
22946059 GOA
Cellular Component GO Annotation Evidence Reference Source
located in endoplasmic reticulum IDA
IDA: Inferred from direct assay
36520003 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
22946059 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ANO9 Protein Structure

Anoctamin

Anoctamin: Calcium-activated chloride channel (179 - 739)

  • 0
  • 200
  • 400
  • 600
  • 782 a.a.
Protein Preferred Names Protein Names

anoctamin-9

p53-induced gene 5 protein

ANO9 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
ANO9 A1A5B4 PLEKHF2 Homo sapiens Q9H8W4 32296183
Intra
ANO9 A1A5B4 PLEKHF2 Homo sapiens Q9H8W4 32296183
Intra
ANO9 A1A5B4 PLEKHF2 Homo sapiens Q9H8W4 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Scott Syndrome

SCTS

Bdplt7

Prothrombin Consumption Deficiency

Bleeding Abnormality Due To Deficiency Of Platelet Binding Of Factor X

Bleeding Disorder, Platelet-Type, 7

Prothrombin Conversion Defect, Familial

Prothrombin Consumption Inhibitor, Familial

Bleeding Abnormality Due To Deficiency Of Platelet Biding Of Factor X

Familial Prothrombin Consumption Inhibitor

Familial Prothrombin Conversion Defect

Platelet-Type Bleeding Disorder 7

Platelet Factor X Receptor Deficiency

Bleeding Disorder Platelet-Type 7

Prothrombin Consumption Inhibitor Familial

Prothrombin Conversion Defect Familial

Gnathodiaphyseal Dysplasia

GDD

Osteogenesis Imperfecta With Unusual Skeletal Lesions

Gnathodiaphyseal Sclerosis

Osteogenesis Imperfecta, Levin Type

Levin Syndrome 2

Dysplasia, Gnathodiaphyseal

Spinocerebellar Ataxia, Autosomal Recessive 10

SCAR10

Autosomal Recessive Spinocerebellar Ataxia 10

Adult-Onset Autosomal Recessive Cerebellar Ataxia

Autosomal Recessive Spinocerebellar Ataxia Type 10

Spinocerebellar Ataxia, Autosomal Recessive, 10

Ataxia, Spinocerebellar, Autosomal Recessive, Type 10

Spinocerebellar Ataxia 10

Spinocerebellar Ataxia Type 10

SCA10

Spinocerebellar Ataxia-10

Ataxia, Spinocerebellar, Type 10

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus ANO9 RGD RGD:1560565
Bos taurus ANO9 VGNC VGNC:106640
Mus musculus ANO9 MGD MGI:1918595
Canis familiaris ANO9 VGNC VGNC:37931
Felis catus ANO9 VGNC VGNC:59834