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ANO7 anoctamin 7 [ Homo sapiens (human) ]

Gene ID: 50636, updated on 25-Jan-2022

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
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Genomic context

See ANO7 in Genome Data Viewer
Location:
2q37.3
Exon count:
27
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (241188551..241239602)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (242128092..242165391)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene PAS domain containing serine/threonine kinase Neighboring gene uncharacterized LOC105373971 Neighboring gene protein phosphatase 1 regulatory subunit 7 Neighboring gene uncharacterized LOC105376810 Neighboring gene high density lipoprotein binding protein Neighboring gene HDLBP antisense RNA 1 Neighboring gene septin 2

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in calcium activated phospholipid scrambling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in chloride transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in chloride transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in ion transmembrane transport TAS
Traceable Author Statement
more info
 
involved_in transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in cell 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 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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

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

  1. NG_029845.2 RefSeqGene

    Range
    5169..41868
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001001666.4NP_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
    CCDS46563.1
    Related
    ENSP00000383985.4, ENST00000402530.8
    Conserved Domains (1) summary
    pfam16178
    Location:52102
    Anoct_dimer; dimerization domain of Ca+-activated chloride-channel, anoctamin
  2. NM_001370694.2NP_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
    CCDS33423.1
    Related
    ENSP00000501393.1, ENST00000674324.2
    Conserved Domains (2) summary
    pfam04547
    Location:281832
    Anoctamin; Calcium-activated chloride channel
    pfam16178
    Location:52278
    Anoct_dimer; dimerization domain of Ca+-activated chloride-channel, anoctamin

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    241188551..241239602
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017004229.1XP_016859718.1  anoctamin-7 isoform X3

  2. XM_011511267.2XP_011509569.1  anoctamin-7 isoform X2

    Related
    ENSP00000385418.4, ENST00000402430.8
    Conserved Domains (2) summary
    pfam04547
    Location:357827
    Anoctamin; Calcium-activated chloride channel
    pfam16178
    Location:106354
    Anoct_dimer; Dimerization domain of Ca+-activated chloride-channel, anoctamin
  3. XM_011511263.2XP_011509565.1  anoctamin-7 isoform X1

    Conserved Domains (2) summary
    pfam04547
    Location:334885
    Anoctamin; Calcium-activated chloride channel
    pfam16178
    Location:106331
    Anoct_dimer; Dimerization domain of Ca+-activated chloride-channel, anoctamin
  4. XM_017004230.1XP_016859719.1  anoctamin-7 isoform X4

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