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ANO7 anoctamin 7 [ Homo sapiens (human) ]

Gene ID: 50636, updated on 11-Apr-2024

Summary

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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

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See ANO7 in Genome Data Viewer
Location:
2q37.3
Exon count:
29
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (241188677..241240308)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (241688481..241740793)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (242128092..242165391)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17414 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17415 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_57723 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_57727 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_57732 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17416 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12527 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17417 Neighboring gene PAS domain containing serine/threonine kinase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242079269-242079769 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17418 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12528 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12529 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12530 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17419 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12531 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242097726-242098226 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:242106157-242106656 Neighboring gene uncharacterized LOC105373971 Neighboring gene protein phosphatase 1 regulatory subunit 7 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242125644-242126166 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:242127362-242128046 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:242128047-242128730 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242129664-242130164 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242130165-242130665 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242152515-242153074 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242155713-242156244 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12532 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17420 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_57796 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242163435-242164395 Neighboring gene uncharacterized LOC105376810 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:242175313-242175524 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:242189957-242190163 Neighboring gene high density lipoprotein binding protein Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17421 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12533 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12534 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:242220649-242221149 Neighboring gene HDLBP antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242248819-242249320 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17422 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17423 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12535 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17424 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:242255088-242255812 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:242255813-242256537 Neighboring gene septin 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Transcripts of the Prostate Cancer-Associated Gene ANO7 Are Retained in the Nuclei of Prostatic Epithelial Cells. Metsälä O, et al. Int J Mol Sci, 2023 Jan 5. PMID 36674564, Free PMC Article
  2. The variant rs77559646 associated with aggressive prostate cancer disrupts ANO7 mRNA splicing and protein expression. Wahlström G, et al. Hum Mol Genet, 2022 Jun 22. PMID 35043958, Free PMC Article
  3. Reduced anoctamin 7 (ANO7) expression is a strong and independent predictor of poor prognosis in prostate cancer. Marx A, et al. Cancer Biol Med, 2021 Feb 15. PMID 33628598, Free PMC Article
  4. ANO7 is associated with aggressive prostate cancer. Kaikkonen E, et al. Int J Cancer, 2018 Nov 15. PMID 30157291, Free PMC Article
  5. Study of NGEP expression pattern in cancerous tissues provides novel insights into prognostic marker in prostate cancer. Mohsenzadegan M, et al. Biomark Med, 2015. PMID 25808443

See all (25) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. The interactome of the prostate-specific protein Anoctamin 7.
    Title: The interactome of the prostate-specific protein Anoctamin 7.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables chloride channel activity IBA
Inferred from Biological aspect of Ancestor
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 intracellularly calcium-gated chloride channel activity TAS
Traceable Author Statement
more info
  
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 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

  1. NG_029845.3 RefSeqGene

    Range
    5002..42301
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  2. 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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    241188677..241240308
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011511267.3 → XP_011509569.2  anoctamin-7 isoform X12

  2. XM_017004229.2 → XP_016859718.2  anoctamin-7 isoform X17

  3. XM_047444599.1 → XP_047300555.1  anoctamin-7 isoform X4

  4. XM_047444603.1 → XP_047300559.1  anoctamin-7 isoform X9

  5. XM_047444596.1 → XP_047300552.1  anoctamin-7 isoform X1

  6. XM_047444598.1 → XP_047300554.1  anoctamin-7 isoform X3

  7. XM_047444600.1 → XP_047300556.1  anoctamin-7 isoform X5

  8. XM_047444601.1 → XP_047300557.1  anoctamin-7 isoform X6

  9. XM_047444602.1 → XP_047300558.1  anoctamin-7 isoform X7

  10. XM_047444597.1 → XP_047300553.1  anoctamin-7 isoform X2

  11. XM_011511263.3 → XP_011509565.2  anoctamin-7 isoform X8

  12. XM_047444606.1 → XP_047300562.1  anoctamin-7 isoform X11

  13. XM_047444604.1 → XP_047300560.1  anoctamin-7 isoform X10

    Related
    ENSP00000385418.4, ENST00000402430.8

  14. XM_047444612.1 → XP_047300568.1  anoctamin-7 isoform X19

  15. XM_047444610.1 → XP_047300566.1  anoctamin-7 isoform X15

  16. XM_047444609.1 → XP_047300565.1  anoctamin-7 isoform X15

  17. XM_047444607.1 → XP_047300563.1  anoctamin-7 isoform X13

  18. XM_047444613.1 → XP_047300569.1  anoctamin-7 isoform X20

  19. XM_047444608.1 → XP_047300564.1  anoctamin-7 isoform X14

  20. XM_047444614.1 → XP_047300570.1  anoctamin-7 isoform X21

  21. XM_047444611.1 → XP_047300567.1  anoctamin-7 isoform X16

  22. XM_047444615.1 → XP_047300571.1  anoctamin-7 isoform X22

  23. XM_047444616.1 → XP_047300572.1  anoctamin-7 isoform X23

  24. XM_047444618.1 → XP_047300574.1  anoctamin-7 isoform X25

  25. XM_047444619.1 → XP_047300575.1  anoctamin-7 isoform X26

  26. XM_047444617.1 → XP_047300573.1  anoctamin-7 isoform X24

  27. XM_017004230.2 → XP_016859719.1  anoctamin-7 isoform X18

    UniProtKB/Swiss-Prot
    Q6IWH6, Q6IWH7

RNA

  1. XR_007076377.1 RNA Sequence

  2. XR_007076376.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    241688481..241740793
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054342344.1 → XP_054198319.1  anoctamin-7 isoform X12

  2. XM_054342350.1 → XP_054198325.1  anoctamin-7 isoform X17

  3. XM_054342336.1 → XP_054198311.1  anoctamin-7 isoform X4

  4. XM_054342341.1 → XP_054198316.1  anoctamin-7 isoform X9

  5. XM_054342342.1 → XP_054198317.1  anoctamin-7 isoform X10

  6. XM_054342333.1 → XP_054198308.1  anoctamin-7 isoform X1

  7. XM_054342352.1 → XP_054198327.1  anoctamin-7 isoform X19

  8. XM_054342335.1 → XP_054198310.1  anoctamin-7 isoform X3

  9. XM_054342337.1 → XP_054198312.1  anoctamin-7 isoform X5

  10. XM_054342338.1 → XP_054198313.1  anoctamin-7 isoform X6

  11. XM_054342339.1 → XP_054198314.1  anoctamin-7 isoform X7

  12. XM_054342334.1 → XP_054198309.1  anoctamin-7 isoform X2

  13. XM_054342340.1 → XP_054198315.1  anoctamin-7 isoform X8

  14. XM_054342343.1 → XP_054198318.1  anoctamin-7 isoform X11

  15. XM_054342348.1 → XP_054198323.1  anoctamin-7 isoform X15

  16. XM_054342347.1 → XP_054198322.1  anoctamin-7 isoform X15

  17. XM_054342345.1 → XP_054198320.1  anoctamin-7 isoform X13

  18. XM_054342353.1 → XP_054198328.1  anoctamin-7 isoform X20

  19. XM_054342346.1 → XP_054198321.1  anoctamin-7 isoform X14

  20. XM_054342354.1 → XP_054198329.1  anoctamin-7 isoform X21

  21. XM_054342349.1 → XP_054198324.1  anoctamin-7 isoform X16

  22. XM_054342355.1 → XP_054198330.1  anoctamin-7 isoform X22

  23. XM_054342356.1 → XP_054198331.1  anoctamin-7 isoform X23

  24. XM_054342358.1 → XP_054198333.1  anoctamin-7 isoform X25

  25. XM_054342359.1 → XP_054198334.1  anoctamin-7 isoform X26

  26. XM_054342357.1 → XP_054198332.1  anoctamin-7 isoform X24

  27. XM_054342351.1 → XP_054198326.1  anoctamin-7 isoform X18

RNA

  1. XR_008486381.1 RNA Sequence

  2. XR_008486380.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6IWH7.2 GenPept UniProtKB/Swiss-Prot:Q6IWH7

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