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ANO4 anoctamin 4 [ Homo sapiens (human) ]

Gene ID: 121601, updated on 22-Sep-2022

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 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

See ANO4 in Genome Data Viewer
Location:
12q23.1
Exon count:
33
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (100717261..101128641)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (100756168..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 nuclear receptor subfamily 1 group H member 4 Neighboring gene growth arrest specific 2 like 3 Neighboring gene phosphatidylinositol glycan anchor biosynthesis class A pseudogene 1 Neighboring gene sorting nexin 5 pseudogene 2 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

Homology

Clone Names

  • FLJ34221, FLJ34272, FLJ35277, MGC130026

Gene Ontology Provided by GOA

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
PubMed 
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 ion transmembrane transport TAS
Traceable Author Statement
more info
 
involved_in transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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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_001286615.2NP_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, 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, Q8NB53
    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/Swiss-Prot
    Q32M45
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

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

    Related
    ENSP00000494481.1, ENST00000644049.1
  3. XM_047428302.1XP_047284258.1  anoctamin-4 isoform X2

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

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

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

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

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

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

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

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

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

    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

    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

    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
    100756168..101090362
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)