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Ano3 anoctamin 3 [ Mus musculus (house mouse) ]

Gene ID: 228432, updated on 11-Apr-2024

Summary

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Official Symbol
Ano3provided by MGI
Official Full Name
anoctamin 3provided by MGI
Primary source
MGI:MGI:3613666
See related
Ensembl:ENSMUSG00000074968 AllianceGenome:MGI:3613666
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Tmem16c; B230324K02Rik
Summary
Enables phospholipid scramblase activity. Acts upstream of or within calcium activated galactosylceramide scrambling and calcium activated phosphatidylcholine scrambling. Predicted to be located in membrane. Predicted to be integral component of membrane. Predicted to be active in plasma membrane. Is expressed in several structures, including alimentary system; apical ectodermal ridge; nervous system; sensory organ; and skeleton. Human ortholog(s) of this gene implicated in dystonia 24. Orthologous to human ANO3 (anoctamin 3). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in frontal lobe adult (RPKM 9.5), cortex adult (RPKM 9.0) and 2 other tissues See more
Orthologs
human all
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Genomic context

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Location:
2 E3; 2 56.75 cM
Exon count:
31
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (110485546..110780854, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (110655201..110950391, complement)

Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_05369 Neighboring gene STARR-seq mESC enhancer starr_05370 Neighboring gene ribosomal protein S3A pseudogene Neighboring gene STARR-seq mESC enhancer starr_05371 Neighboring gene STARR-seq mESC enhancer starr_05372 Neighboring gene solute carrier family 5 (sodium/glucose cotransporter), member 12 Neighboring gene predicted gene, 52522 Neighboring gene mucin 15 Neighboring gene STARR-seq mESC enhancer starr_05373 Neighboring gene POTE ankyrin domain family member 1 Neighboring gene RB1-inducible coiled-coil 1 pseudogene Neighboring gene olfactory receptor family 4 subfamily F member 52

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. TMEM16C is involved in thermoregulation and protects rodent pups from febrile seizures. Wang TA, et al. Proc Natl Acad Sci U S A, 2021 May 18. PMID 33972431, Free PMC Article
  2. Expression patterns of the Tmem16 gene family during cephalic development in the mouse. Gritli-Linde A, et al. Gene Expr Patterns, 2009 Mar. PMID 19059364
  3. Expression of TMEM16 paralogs during murine embryogenesis. Rock JR, et al. Dev Dyn, 2008 Sep. PMID 18729231
  4. Identification of novel radiation-induced p53-dependent transcripts extensively regulated during mouse brain development. Quintens R, et al. Biol Open, 2015 Feb 13. PMID 25681390, Free PMC Article
  5. Calcium-dependent phospholipid scramblase activity of TMEM16 protein family members. Suzuki J, et al. J Biol Chem, 2013 May 10. PMID 23532839, Free PMC Article

See all (19) citations in PubMed

GeneRIFs: Gene References Into Functions

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (1)  1 citation
  • Endonuclease-mediated (3) 

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 MGI

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 phospholipid scramblase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein dimerization activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within calcium activated galactosylceramide scrambling IDA
Inferred from Direct Assay
more info
 PubMed 
acts_upstream_of_or_within calcium activated phosphatidylcholine scrambling IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in chloride transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in detection of mechanical stimulus ISO
Inferred from Sequence Orthology
more info
  
involved_in detection of temperature stimulus ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within establishment of localization in cell IDA
Inferred from Direct Assay
more info
 PubMed 
acts_upstream_of_or_within lipid transport IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within plasma membrane phospholipid scrambling IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in membrane IEA
Inferred from Electronic Annotation
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
anoctamin-3

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_001128103.2 → NP_001121575.1  anoctamin-3 isoform 1

    See identical proteins and their annotated locations for NP_001121575.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AL731700, AL731779, BX005257
    Consensus CDS
    CCDS50658.1
    UniProtKB/Swiss-Prot
    A2AHL0, A2AHL1
    Related
    ENSMUSP00000097219.4, ENSMUST00000099623.10
    Conserved Domains (2) summary
    pfam04547
    Location:384 → 950
    Anoctamin; Calcium-activated chloride channel
    pfam16178
    Location:157 → 381
    Anoct_dimer; Dimerization domain of Ca+-activated chloride-channel, anoctamin

  2. NM_001355244.1 → NP_001342173.1  anoctamin-3 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AL731779, BX005257
    Conserved Domains (2) summary
    pfam04547
    Location:238 → 803
    Anoctamin; Calcium-activated chloride channel
    pfam16178
    Location:11 → 235
    Anoct_dimer; dimerization domain of Ca+-activated chloride-channel, anoctamin

  3. NM_001355245.1 → NP_001342174.1  anoctamin-3 isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (3) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AK045930, AL731779
    Related
    ENSMUST00000111019.2
    Conserved Domains (2) summary
    pfam04547
    Location:384 → 624
    Anoctamin; Calcium-activated chloride channel
    pfam16178
    Location:163 → 381
    Anoct_dimer; Dimerisation domain of Ca+-activated chloride-channel, anoctamin

  4. NM_001355246.1 → NP_001342175.1  anoctamin-3 isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (4) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AL731700

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000068.8 Reference GRCm39 C57BL/6J

    Range
    110485546..110780854 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_030250348.2 → XP_030106208.1  anoctamin-3 isoform X2

    Conserved Domains (1) summary
    pfam04547
    Location:11 → 576
    Anoctamin; Calcium-activated chloride channel

  2. XM_006499261.5 → XP_006499324.1  anoctamin-3 isoform X1

    See identical proteins and their annotated locations for XP_006499324.1

    Conserved Domains (2) summary
    pfam04547
    Location:238 → 803
    Anoctamin; Calcium-activated chloride channel
    pfam16178
    Location:11 → 235
    Anoct_dimer; dimerization domain of Ca+-activated chloride-channel, anoctamin

  3. XM_030250350.2 → XP_030106210.1  anoctamin-3 isoform X2

    Conserved Domains (1) summary
    pfam04547
    Location:11 → 576
    Anoctamin; Calcium-activated chloride channel

  4. XM_011239463.4 → XP_011237765.1  anoctamin-3 isoform X4

    Conserved Domains (2) summary
    pfam04547
    Location:384 → 483
    Anoctamin; Calcium-activated chloride channel
    pfam16178
    Location:157 → 381
    Anoct_dimer; dimerization domain of Ca+-activated chloride-channel, anoctamin

  5. XM_006499262.5 → XP_006499325.1  anoctamin-3 isoform X3

    Conserved Domains (2) summary
    pfam04547
    Location:384 → 483
    Anoctamin; Calcium-activated chloride channel
    pfam16178
    Location:157 → 381
    Anoct_dimer; dimerization domain of Ca+-activated chloride-channel, anoctamin

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001081556.1: Suppressed sequence

    Description
    NM_001081556.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A2AHL1.1 GenPept UniProtKB/Swiss-Prot:A2AHL1

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