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    ANO7 anoctamin 7 [ Homo sapiens (human) ]

    Gene ID: 50636, updated on 2-May-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
    mouse all
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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 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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    NEW Try the new Transcript table

    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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