ANO7 anoctamin 7 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ANO7provided by HGNC
Official Full Name: anoctamin 7provided by HGNC
Primary source: HGNC:HGNC:31677
See related: Ensembl:ENSG00000146205 MIM:605096; AllianceGenome:HGNC:31677
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: NGEP; DTMPP; IPCA5; D-TMPP; IPCA-5; PCANAP5; TMEM16G; PCANAP5L
Summary: This prostate-specific gene encodes a cytoplasmic protein, as well as a polytopic membrane protein which may serve as a target in prostate cancer diagnosis and immunotherapy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2011]
Expression: Biased expression in prostate (RPKM 34.0), stomach (RPKM 8.3) and 3 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q37.3

Exon count:: 29

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (241188677..241240308)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (241688481..241740793)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (242128092..242165391)

Chromosome 2 - NC_000002.12 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?

Transcripts of the Prostate Cancer-Associated Gene ANO7 Are Retained in the Nuclei of Prostatic Epithelial Cells.
Title: Transcripts of the Prostate Cancer-Associated Gene ANO7 Are Retained in the Nuclei of Prostatic Epithelial Cells.
The variant rs77559646 associated with aggressive prostate cancer disrupts ANO7 mRNA splicing and protein expression.
Title: The variant rs77559646 associated with aggressive prostate cancer disrupts ANO7 mRNA splicing and protein expression.
Reduced anoctamin 7 (ANO7) expression is a strong and independent predictor of poor prognosis in prostate cancer.
Title: Reduced anoctamin 7 (ANO7) expression is a strong and independent predictor of poor prognosis in prostate cancer.
The interactome of the prostate-specific protein Anoctamin 7.
Title: The interactome of the prostate-specific protein Anoctamin 7.
ANO7 genotypes correlate with expression and biochemical relapse, suggesting that ANO7 is a potential PrCa susceptibility gene and that its elevated expression correlates with disease severity and outcome.
Title: ANO7 is associated with aggressive prostate cancer.
high level of NGEP expression could be associated with good prognosis in prostate cancer
Title: Study of NGEP expression pattern in cancerous tissues provides novel insights into prognostic marker in prostate cancer.
NGEP protein is widely expressed in low-grade to high-grade prostate adenocarcinomas as well as benign prostate tissues, and the intensity of expression is inversely proportional to the level of malignancy.
Title: Reduced expression of NGEP is associated with high-grade prostate cancers: a tissue microarray analysis.
NGEP is a potential target for T cell-mediated immunotherapy of prostate cancer.
Title: New gene expressed in prostate: a potential target for T cell-mediated prostate cancer immunotherapy.
NGEP is a glycoprotein with predicted glycosylation sites at N809 and N824. When these residues were converted to glutamine, glycosylation was abolished, confirming that the residues are extracellular
Title: Topology of NGEP, a prostate-specific cell:cell junction protein widely expressed in many cancers of different grade level.
expressed only in prostate and prostate camcer is a promising target for the antibody-based therapies of prostate cancer
Title: NGEP, a gene encoding a membrane protein detected only in prostate cancer and normal prostate.

Submit: New GeneRIF Correction See all GeneRIFs (12)

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

EBI GWAS Catalog

Description
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. EBI GWAS Catalog EBI GWAS CatalogPubMed

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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Markers

SHGC-35108 (e-PCR)
- UniSTS:47398

RH68737 (e-PCR)
- UniSTS:13897

G42012 (e-PCR)
- UniSTS:19788

G42022 (e-PCR)
- UniSTS:38856

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables chloride channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables chloride channel activity	TAS Traceable Author Statement more info
NOT enables intracellularly calcium-gated chloride channel activity	IDA Inferred from Direct Assay more info	PubMed
enables intracellularly calcium-gated chloride channel activity	IDA Inferred from Direct Assay more info	PubMed
enables protein dimerization activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in calcium activated phospholipid scrambling	IBA Inferred from Biological aspect of Ancestor more info
involved_in chloride transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in chloride transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in monoatomic ion transmembrane transport	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
located_in anchoring junction	IEA Inferred from Electronic Annotation more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
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-7

Names: Dresden-transmembrane protein of the prostate; prostate cancer associated protein 5; transmembrane protein 16G

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_029845.3 RefSeqGene

Range

5002..42301

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001001666.4 → NP_001001666.2 anoctamin-7 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2, also known as NGEP-S) lacks several exons and its transcription extends past a splice site that is used in variant 1, resulting in a novel 3' coding region and 3' UTR compared to variant 1. The encoded isoform (2, also known as isoform NGEP short) is shorter and contains a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AC005237

Consensus CDS

CCDS46563.2

UniProtKB/TrEMBL

A0A6Q8JT31

Related

ENSP00000383985.4, ENST00000402530.8

Conserved Domains (1) summary

pfam16178
Location:52 → 102

Anoct_dimer; dimerization domain of Ca+-activated chloride-channel, anoctamin
NM_001370694.2 → NP_001357623.1 anoctamin-7 isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1, also known as NGEP-L) represents the longer transcript and encodes the longer isoform (isoform 1, also known as NGEP long).

Source sequence(s)

AC005237, AC104841, AC111201, KF456776

Consensus CDS

CCDS33423.2

UniProtKB/Swiss-Prot

Q6IWH6, Q6IWH7

UniProtKB/TrEMBL

A0A6I8PRE6

Related

ENSP00000501393.1, ENST00000674324.2

Conserved Domains (2) summary

pfam04547
Location:281 → 832

Anoctamin; Calcium-activated chloride channel

pfam16178
Location:52 → 278

Anoct_dimer; dimerization domain of Ca+-activated chloride-channel, anoctamin