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    ANO4 anoctamin 4 [ Homo sapiens (human) ]

    Gene ID: 121601, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ANO4provided by HGNC
    Official Full Name
    anoctamin 4provided by HGNC
    Primary source
    HGNC:HGNC:23837
    See related
    Ensembl:ENSG00000151572 MIM:610111; AllianceGenome:HGNC:23837
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TMEM16D
    Summary
    Enables intracellularly calcium-gated chloride channel activity. Involved in chloride transmembrane transport. Located in plasma membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in adrenal (RPKM 3.2), brain (RPKM 1.6) and 5 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ANO4 in Genome Data Viewer
    Location:
    12q23.1
    Exon count:
    33
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (100717261..101128641)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (100678611..101090362)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (101188554..101522419)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_22518 Neighboring gene MPRA-validated peak1913 silencer Neighboring gene nuclear receptor subfamily 1 group H member 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4767 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6860 Neighboring gene growth arrest specific 2 like 3 Neighboring gene phosphatidylinositol glycan anchor biosynthesis class A pseudogene 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:101055348-101055876 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr12:101380545-101381070 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:101382123-101382646 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:101411804-101413003 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:101495121-101495326 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_22530 Neighboring gene sorting nexin 5 pseudogene 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:101588413-101588600 Neighboring gene solute carrier family 5 member 8 Neighboring gene RNA, U6 small nuclear 768, pseudogene Neighboring gene ribosomal protein S6 pseudogene 19

    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. Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect. Yang F, et al. Am J Hum Genet, 2024 Jun 6. PMID 38744284, Free PMC Article
    2. Prediction of Functional Consequences of Missense Mutations in ANO4 Gene. Reichhart N, et al. Int J Mol Sci, 2021 Mar 8. PMID 33800471, Free PMC Article
    3. ANO4 (Anoctamin 4) Is a Novel Marker of Zona Glomerulosa That Regulates Stimulated Aldosterone Secretion. Maniero C, et al. Hypertension, 2019 Nov. PMID 31564164, Free PMC Article
    4. Anoctamin-4 is a bona fide Ca(2+)-dependent non-selective cation channel. Reichhart N, et al. Sci Rep, 2019 Feb 19. PMID 30783137, Free PMC Article
    5. FLJ10261 gene, located within the CCND1-EMS1 locus on human chromosome 11q13, encodes the eight-transmembrane protein homologous to C12orf3, C11orf25 and FLJ34272 gene products. Katoh M, et al. Int J Oncol, 2003 Jun. PMID 12739008

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect.
      Title: Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect.
    2. Prediction of Functional Consequences of Missense Mutations in ANO4 Gene.
      Title: Prediction of Functional Consequences of Missense Mutations in ANO4 Gene.
    3. Anoctamin-4 is a bona fide Ca(2+)-dependent non-selective cation channel.
      Title: Anoctamin-4 is a bona fide Ca(2+)-dependent non-selective cation channel.
    4. ANO4 is one of the most highly expressed genes in the adrenal zona glomerulosa. It attenuates stimulated aldosterone secretion and cell proliferation.
      Title: ANO4 (Anoctamin 4) Is a Novel Marker of Zona Glomerulosa That Regulates Stimulated Aldosterone Secretion.
    Submit: New GeneRIF Correction

    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
    Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.
    EBI GWAS Catalog
    Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ34221, FLJ34272, FLJ35277, MGC130026

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables chloride channel activity TAS
    Traceable Author Statement
    more info
    		  
    enables intracellularly calcium-gated chloride channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables intracellularly calcium-gated chloride channel activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables phospholipid scramblase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 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 establishment of localization in cell IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in monoatomic ion transmembrane transport TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    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-4
    Names
    transmembrane protein 16D

    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.

    mRNA and Protein(s)

    1. NM_001286615.2 → NP_001273544.1  anoctamin-4 isoform 1

      See identical proteins and their annotated locations for NP_001273544.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AK091591, AK316105, DC325277
      Consensus CDS
      CCDS66445.1
      UniProtKB/Swiss-Prot
      Q32M45, Q8NAJ0, Q8NB39, Q8NB53
      UniProtKB/TrEMBL
      B7Z9Z0
      Related
      ENSP00000376703.3, ENST00000392977.8
      Conserved Domains (2) summary
      pfam04547
      Location:339 → 920
      Anoctamin; Calcium-activated chloride channel
      pfam16178
      Location:111 → 336
      Anoct_dimer; dimerization domain of Ca+-activated chloride-channel, anoctamin

    2. NM_001286616.1 → NP_001273545.1  anoctamin-4 isoform 1

      See identical proteins and their annotated locations for NP_001273545.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and uses an alternate splice site in the 3' UTR, compared to variant 1. Variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AI140598, AK091591, BC109308, DC325277
      Consensus CDS
      CCDS66445.1
      UniProtKB/Swiss-Prot
      Q32M45, Q8NAJ0, Q8NB39, Q8NB53
      UniProtKB/TrEMBL
      B7Z9Z0
      Conserved Domains (2) summary
      pfam04547
      Location:339 → 920
      Anoctamin; Calcium-activated chloride channel
      pfam16178
      Location:111 → 336
      Anoct_dimer; dimerization domain of Ca+-activated chloride-channel, anoctamin

    3. NM_178826.4 → NP_849148.2  anoctamin-4 isoform 2

      See identical proteins and their annotated locations for NP_849148.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AK091591, DA213819, DC325277
      Consensus CDS
      CCDS31884.1
      UniProtKB/TrEMBL
      B7Z9Z0
      Related
      ENSP00000376705.3, ENST00000392979.7
      Conserved Domains (2) summary
      pfam04547
      Location:304 → 885
      Anoctamin; Calcium-activated chloride channel
      pfam16178
      Location:76 → 301
      Anoct_dimer; dimerization domain of Ca+-activated chloride-channel, anoctamin

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      100717261..101128641
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011537912.3 → XP_011536214.2  anoctamin-4 isoform X1

      UniProtKB/TrEMBL
      A0A2R8Y532

    2. XM_011537911.3 → XP_011536213.2  anoctamin-4 isoform X1

      UniProtKB/TrEMBL
      A0A2R8Y532
      Related
      ENSP00000494481.1, ENST00000644049.1

    3. XM_047428302.1 → XP_047284258.1  anoctamin-4 isoform X2

      UniProtKB/TrEMBL
      A0A2R8Y532

    4. XM_011537913.3 → XP_011536215.2  anoctamin-4 isoform X2

      UniProtKB/TrEMBL
      A0A2R8Y532

    5. XM_047428308.1 → XP_047284264.1  anoctamin-4 isoform X5

      UniProtKB/TrEMBL
      A0A2R8Y532

    6. XM_011537915.3 → XP_011536217.2  anoctamin-4 isoform X5

      UniProtKB/TrEMBL
      A0A2R8Y532

    7. XM_047428305.1 → XP_047284261.1  anoctamin-4 isoform X3

      UniProtKB/TrEMBL
      A0A2R8Y532

    8. XM_047428303.1 → XP_047284259.1  anoctamin-4 isoform X3

      UniProtKB/TrEMBL
      A0A2R8Y532

    9. XM_047428307.1 → XP_047284263.1  anoctamin-4 isoform X4

      UniProtKB/TrEMBL
      A0A2R8Y532

    10. XM_047428306.1 → XP_047284262.1  anoctamin-4 isoform X4

      UniProtKB/TrEMBL
      A0A2R8Y532

    11. XM_011537918.3 → XP_011536220.2  anoctamin-4 isoform X8

    12. XM_011537916.3 → XP_011536218.1  anoctamin-4 isoform X6

      UniProtKB/TrEMBL
      B7Z9Z0
      Conserved Domains (2) summary
      pfam04547
      Location:389 → 971
      Anoctamin; Calcium-activated chloride channel
      pfam16178
      Location:161 → 386
      Anoct_dimer; Dimerization domain of Ca+-activated chloride-channel, anoctamin

    13. XM_024448842.2 → XP_024304610.1  anoctamin-4 isoform X7

      UniProtKB/TrEMBL
      B7Z1R6, B7Z9Z0
      Conserved Domains (2) summary
      pfam04547
      Location:168 → 749
      Anoctamin; Calcium-activated chloride channel
      pfam16178
      Location:26 → 165
      Anoct_dimer; dimerization domain of Ca+-activated chloride-channel, anoctamin

    14. XM_024448841.2 → XP_024304609.1  anoctamin-4 isoform X7

      UniProtKB/TrEMBL
      B7Z1R6, B7Z9Z0
      Conserved Domains (2) summary
      pfam04547
      Location:168 → 749
      Anoctamin; Calcium-activated chloride channel
      pfam16178
      Location:26 → 165
      Anoct_dimer; dimerization domain of Ca+-activated chloride-channel, anoctamin

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NW_003315942.2 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      135832..152874 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      100678611..101090362
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054371108.1 → XP_054227083.1  anoctamin-4 isoform X3

      UniProtKB/TrEMBL
      A0A2R8Y532

    2. XM_054371111.1 → XP_054227086.1  anoctamin-4 isoform X4

      UniProtKB/TrEMBL
      A0A2R8Y532

    3. XM_054371105.1 → XP_054227080.1  anoctamin-4 isoform X1

      UniProtKB/TrEMBL
      A0A2R8Y532

    4. XM_054371107.1 → XP_054227082.1  anoctamin-4 isoform X2

      UniProtKB/TrEMBL
      A0A2R8Y532

    5. XM_054371106.1 → XP_054227081.1  anoctamin-4 isoform X2

      UniProtKB/TrEMBL
      A0A2R8Y532

    6. XM_054371104.1 → XP_054227079.1  anoctamin-4 isoform X1

      UniProtKB/TrEMBL
      A0A2R8Y532

    7. XM_054371113.1 → XP_054227088.1  anoctamin-4 isoform X5

      UniProtKB/TrEMBL
      A0A2R8Y532

    8. XM_054371112.1 → XP_054227087.1  anoctamin-4 isoform X5

      UniProtKB/TrEMBL
      A0A2R8Y532

    9. XM_054371109.1 → XP_054227084.1  anoctamin-4 isoform X3

      UniProtKB/TrEMBL
      A0A2R8Y532

    10. XM_054371110.1 → XP_054227085.1  anoctamin-4 isoform X4

      UniProtKB/TrEMBL
      A0A2R8Y532

    11. XM_054371117.1 → XP_054227092.1  anoctamin-4 isoform X8

    12. XM_054371114.1 → XP_054227089.1  anoctamin-4 isoform X6

      UniProtKB/TrEMBL
      B7Z9Z0

    13. XM_054371116.1 → XP_054227091.1  anoctamin-4 isoform X7

      UniProtKB/TrEMBL
      B7Z1R6, B7Z9Z0

    14. XM_054371115.1 → XP_054227090.1  anoctamin-4 isoform X7

      UniProtKB/TrEMBL
      B7Z1R6, B7Z9Z0
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q32M45.1 GenPept UniProtKB/Swiss-Prot:Q32M45

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