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ANO4 anoctamin 4 [ Homo sapiens (human) ]

Gene ID: 121601, updated on 11-Apr-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 intracellular calcium activated chloride channel activity. Involved in chloride transport. Located in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in adrenal (RPKM 3.2), brain (RPKM 1.6) and 5 other tissues See more
Orthologs
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Genomic context

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Location:
12q23.1
Exon count:
33
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (100717261..101128641)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (100678611..101090362)
105.20220307 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. 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
  2. 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
  3. 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
  4. 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
  5. Identification and characterization of TMEM16E and TMEM16F genes in silico. Katoh M, et al. Int J Oncol, 2004 May. PMID 15067359

See all (17) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Prediction of Functional Consequences of Missense Mutations in ANO4 Gene.
    Title: Prediction of Functional Consequences of Missense Mutations in ANO4 Gene.
  2. 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.
  3. 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)

Genotypes

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 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 intracellularly calcium-gated chloride channel activity TAS
Traceable Author Statement
more info
  
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 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_2023_10

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

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

    Related
    ENSP00000494481.1, ENST00000644049.1

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

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

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

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

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

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

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

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

  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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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