ANO9 anoctamin 9 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ANO9provided by HGNC
Official Full Name: anoctamin 9provided by HGNC
Primary source: HGNC:HGNC:20679
See related: Ensembl:ENSG00000185101 MIM:619963; AllianceGenome:HGNC:20679
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PIG5; TP53I5; TMEM16J
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]
Expression: Broad expression in skin (RPKM 19.3), duodenum (RPKM 19.0) and 14 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11p15.5

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (417938..442011, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (463391..487355, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (417938..442011, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ANO9 Regulated Cell Cycle in Human Esophageal Squamous Cell Carcinoma.
Title: ANO9 Regulated Cell Cycle in Human Esophageal Squamous Cell Carcinoma.
ANO9 regulates PD-L2 expression and binding ability to PD-1 in gastric cancer.
Title: ANO9 regulates PD-L2 expression and binding ability to PD-1 in gastric cancer.
ANO9 is a cation channel activated by a cAMP/PKA pathway and could play a role in intestine function.
Title: Anoctamin 9/TMEM16J is a cation channel activated by cAMP/PKA signal.
Our results showed that ANO9 is overexpressed in most pancreatic cancer cell lines tested and in B30% of tissue samples obtained from patients with pancreatic cancer. Moreover, high ANO9 expression was associated with increased proliferation of pancreatic cancer cells and poor survival in patients with pancreatic cancer.
Title: ANO9/TMEM16J promotes tumourigenesis via EGFR and is a novel therapeutic target for pancreatic cancer.
Suggest role for up-regulation of ANO9 in progression and metastasis of stage II and III colorectal carcinoma.
Title: Identification and characterization of ANO9 in stage II and III colorectal carcinoma.
Children with low 25-hydroxyvitamin D and TMEM16J rs7111432-AA or PKP3 rs10902158-GG polymorphisms were at increased risk for tuberculosis or death.
Title: Low Vitamin-D Levels Combined with PKP3-SIGIRR-TMEM16J Host Variants Is Associated with Tuberculosis and Death in HIV-Infected and -Exposed Infants.
These results demonstrate a strong association of single-nucleotide polymorphisms in the PKP3-SIGIRR-TMEM16J gene region and tuberculosis in discovery and validation cohorts.
Title: Common polymorphisms in the PKP3-SIGIRR-TMEM16J gene region are associated with susceptibility to tuberculosis.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables channel activity	IDA Inferred from Direct Assay more info	PubMed
enables chloride channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables chloride channel activity	TAS Traceable Author Statement more info
enables chloride channel inhibitor activity	IDA Inferred from Direct Assay more info	PubMed
NOT enables intracellularly calcium-gated chloride channel activity	IDA Inferred from Direct Assay more info	PubMed
enables intracellularly calcium-gated chloride channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables phospholipid scramblase activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein dimerization activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in calcium activated galactosylceramide scrambling	IEA Inferred from Electronic Annotation more info
involved_in calcium activated phosphatidylcholine scrambling	IEA Inferred from Electronic Annotation more info
involved_in calcium activated phosphatidylserine scrambling	IEA Inferred from Electronic Annotation more info
involved_in calcium ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in chloride transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in chloride transmembrane transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in establishment of localization in cell	IEA Inferred from Electronic Annotation more info
involved_in lipid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in monoatomic ion transmembrane transport	TAS Traceable Author Statement more info
involved_in sensory perception of smell	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: anoctamin-9

Names: p53-induced gene 5 protein; transmembrane protein 16J; tumor protein p53-inducible protein 5

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_052610.1 RefSeqGene

Range

5001..29074

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001012302.3 → NP_001012302.2 anoctamin-9 isoform 1

See identical proteins and their annotated locations for NP_001012302.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AC138230, AI986229, BC128557, DB140066

Consensus CDS

CCDS31326.1

UniProtKB/Swiss-Prot

A1A5B4, B3KUC4, B4E134, Q8TEN4

Related

ENSP00000332788.6, ENST00000332826.7

Conserved Domains (2) summary

pfam04547
Location:179 → 735

Anoctamin; Calcium-activated chloride channel

pfam16178
Location:115 → 176

Anoct_dimer; Dimerization domain of Ca+-activated chloride-channel, anoctamin
NM_001347882.2 → NP_001334811.1 anoctamin-9 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) retains an intron compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1.

Source sequence(s)

AC138230, KC877377

Related

ENST00000528927.5