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    ANO4 anoctamin 4 [ Homo sapiens (human) ]

    Gene ID: 121601, updated on 3-Dec-2024

    Summary

    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, Nov 2024]
    Expression
    Biased expression in adrenal (RPKM 3.2), brain (RPKM 1.6) and 5 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    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
    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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
     
    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

    Preferred Names
    anoctamin-4
    Names
    transmembrane protein 16D

    NCBI Reference Sequences (RefSeq)

    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.

    mRNA and Protein(s)

    1. NM_001286615.2NP_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:339920
      Anoctamin; Calcium-activated chloride channel
      pfam16178
      Location:111336
      Anoct_dimer; dimerization domain of Ca+-activated chloride-channel, anoctamin
    2. NM_001286616.1NP_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:339920
      Anoctamin; Calcium-activated chloride channel
      pfam16178
      Location:111336
      Anoct_dimer; dimerization domain of Ca+-activated chloride-channel, anoctamin
    3. NM_178826.4NP_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:304885
      Anoctamin; Calcium-activated chloride channel
      pfam16178
      Location:76301
      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_011537912.3XP_011536214.2  anoctamin-4 isoform X1

      UniProtKB/TrEMBL
      A0A2R8Y532
    2. XM_011537911.3XP_011536213.2  anoctamin-4 isoform X1

      UniProtKB/TrEMBL
      A0A2R8Y532
      Related
      ENSP00000494481.1, ENST00000644049.1
    3. XM_047428302.1XP_047284258.1  anoctamin-4 isoform X2

      UniProtKB/TrEMBL
      A0A2R8Y532
    4. XM_011537913.3XP_011536215.2  anoctamin-4 isoform X2

      UniProtKB/TrEMBL
      A0A2R8Y532
    5. XM_047428308.1XP_047284264.1  anoctamin-4 isoform X5

      UniProtKB/TrEMBL
      A0A2R8Y532
    6. XM_011537915.3XP_011536217.2  anoctamin-4 isoform X5

      UniProtKB/TrEMBL
      A0A2R8Y532
    7. XM_047428305.1XP_047284261.1  anoctamin-4 isoform X3

      UniProtKB/TrEMBL
      A0A2R8Y532
    8. XM_047428303.1XP_047284259.1  anoctamin-4 isoform X3

      UniProtKB/TrEMBL
      A0A2R8Y532
    9. XM_047428307.1XP_047284263.1  anoctamin-4 isoform X4

      UniProtKB/TrEMBL
      A0A2R8Y532
    10. XM_047428306.1XP_047284262.1  anoctamin-4 isoform X4

      UniProtKB/TrEMBL
      A0A2R8Y532
    11. XM_011537918.3XP_011536220.2  anoctamin-4 isoform X8

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

      UniProtKB/TrEMBL
      B7Z9Z0
      Conserved Domains (2) summary
      pfam04547
      Location:389971
      Anoctamin; Calcium-activated chloride channel
      pfam16178
      Location:161386
      Anoct_dimer; Dimerization domain of Ca+-activated chloride-channel, anoctamin
    13. XM_024448842.2XP_024304610.1  anoctamin-4 isoform X7

      UniProtKB/TrEMBL
      B7Z1R6, B7Z9Z0
      Conserved Domains (2) summary
      pfam04547
      Location:168749
      Anoctamin; Calcium-activated chloride channel
      pfam16178
      Location:26165
      Anoct_dimer; dimerization domain of Ca+-activated chloride-channel, anoctamin
    14. XM_024448841.2XP_024304609.1  anoctamin-4 isoform X7

      UniProtKB/TrEMBL
      B7Z1R6, B7Z9Z0
      Conserved Domains (2) summary
      pfam04547
      Location:168749
      Anoctamin; Calcium-activated chloride channel
      pfam16178
      Location:26165
      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_054371108.1XP_054227083.1  anoctamin-4 isoform X3

      UniProtKB/TrEMBL
      A0A2R8Y532
    2. XM_054371111.1XP_054227086.1  anoctamin-4 isoform X4

      UniProtKB/TrEMBL
      A0A2R8Y532
    3. XM_054371105.1XP_054227080.1  anoctamin-4 isoform X1

      UniProtKB/TrEMBL
      A0A2R8Y532
    4. XM_054371107.1XP_054227082.1  anoctamin-4 isoform X2

      UniProtKB/TrEMBL
      A0A2R8Y532
    5. XM_054371106.1XP_054227081.1  anoctamin-4 isoform X2

      UniProtKB/TrEMBL
      A0A2R8Y532
    6. XM_054371104.1XP_054227079.1  anoctamin-4 isoform X1

      UniProtKB/TrEMBL
      A0A2R8Y532
    7. XM_054371113.1XP_054227088.1  anoctamin-4 isoform X5

      UniProtKB/TrEMBL
      A0A2R8Y532
    8. XM_054371112.1XP_054227087.1  anoctamin-4 isoform X5

      UniProtKB/TrEMBL
      A0A2R8Y532
    9. XM_054371109.1XP_054227084.1  anoctamin-4 isoform X3

      UniProtKB/TrEMBL
      A0A2R8Y532
    10. XM_054371110.1XP_054227085.1  anoctamin-4 isoform X4

      UniProtKB/TrEMBL
      A0A2R8Y532
    11. XM_054371117.1XP_054227092.1  anoctamin-4 isoform X8

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

      UniProtKB/TrEMBL
      B7Z9Z0
    13. XM_054371116.1XP_054227091.1  anoctamin-4 isoform X7

      UniProtKB/TrEMBL
      B7Z1R6, B7Z9Z0
    14. XM_054371115.1XP_054227090.1  anoctamin-4 isoform X7

      UniProtKB/TrEMBL
      B7Z1R6, B7Z9Z0