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    Ano3 anoctamin 3 [ Mus musculus (house mouse) ]

    Gene ID: 228432, updated on 21-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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