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    Cacna1h calcium channel, voltage-dependent, T type, alpha 1H subunit [ Mus musculus (house mouse) ]

    Gene ID: 58226, updated on 14-Nov-2024

    Summary

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    Official Symbol
    Cacna1hprovided by MGI
    Official Full Name
    calcium channel, voltage-dependent, T type, alpha 1H subunitprovided by MGI
    Primary source
    MGI:MGI:1928842
    See related
    Ensembl:ENSMUSG00000024112 AllianceGenome:MGI:1928842
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Cav3.2; MNCb-1209; alpha13.2
    Summary
    Voltage-dependent Ca(2+) channels mediate the entry of Ca(2+) ions into excitable cells and are involved in a variety of Ca(2+)-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. The protein encoded by this gene is an integral membrane protein that belongs to the calcium channel alpha-1 subunits family. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009]
    Expression
    Broad expression in adrenal adult (RPKM 52.1), testis adult (RPKM 28.2) and 18 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Cacna1h in Genome Data Viewer
    Location:
    17 A3.3; 17 12.53 cM
    Exon count:
    36
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 17 NC_000083.7 (25593259..25655308, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 17 NC_000083.6 (25374285..25436334, complement)

    Chromosome 17 - NC_000083.7Genomic Context describing neighboring genes Neighboring gene tryptase alpha/beta 1 Neighboring gene STARR-seq mESC enhancer starr_42106 Neighboring gene tryptase beta 2 Neighboring gene tryptase gamma 1 Neighboring gene predicted gene, 33617 Neighboring gene STARR-seq mESC enhancer starr_42107 Neighboring gene tektin 4 Neighboring gene somatostatin receptor 5 Neighboring gene predicted gene, 53993

    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 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. T-type calcium channel Cav3.2 deficient mice show elevated anxiety, impaired memory and reduced sensitivity to psychostimulants. Gangarossa G, et al. Front Behav Neurosci, 2014. PMID 24672455, Free PMC Article
    2. Cystitis-Related Bladder Pain Involves ATP-Dependent HMGB1 Release from Macrophages and Its Downstream H(2)S/Ca(v)3.2 Signaling in Mice. Hiramoto S, et al. Cells, 2020 Jul 22. PMID 32707767, Free PMC Article
    3. Involvement of the endogenous hydrogen sulfide/Ca(v) 3.2 T-type Ca2+ channel pathway in cystitis-related bladder pain in mice. Matsunami M, et al. Br J Pharmacol, 2012 Oct. PMID 22646666, Free PMC Article
    4. Inhibition of CACNA1H attenuates doxorubicin-induced acute cardiotoxicity by affecting endoplasmic reticulum stress. Hu J, et al. Biomed Pharmacother, 2019 Dec. PMID 31580970
    5. Ca(v)3.2 T-Type Calcium Channels Are Physiologically Mandatory for the Auditory System. Lundt A, et al. Neuroscience, 2019 Jun 15. PMID 31029730

    See all (160) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Cav3.2 deletion attenuates nonalcoholic fatty liver disease in mice.
      Title: Cav3.2 deletion attenuates nonalcoholic fatty liver disease in mice.
    2. The mmu_circ_003062, hsa_circ_0075663/miR-490-3p/CACNA1H axis mediates apoptosis in renal tubular cells in association with endoplasmic reticulum stress following ischemic acute kidney injury.
      Title: The mmu_circ_003062, hsa_circ_0075663/miR-490-3p/CACNA1H axis mediates apoptosis in renal tubular cells in association with endoplasmic reticulum stress following ischemic acute kidney injury.
    3. Involvement of interaction of Cav3.2 and nociceptive TRPA1 in pathological pain transmission.
      Title: Involvement of interaction of Cav3.2 and nociceptive TRPA1 in pathological pain transmission.
    4. Senolytics prevent caveolar CaV 3.2-RyR axis malfunction in old vascular smooth muscle.
      Title: Senolytics prevent caveolar Ca(V) 3.2-RyR axis malfunction in old vascular smooth muscle.
    5. Adiponectin receptor 1-mediated stimulation of Cav3.2 channels in trigeminal ganglion neurons induces nociceptive behaviors in mice.
      Title: Adiponectin receptor 1-mediated stimulation of Cav3.2 channels in trigeminal ganglion neurons induces nociceptive behaviors in mice.
    6. A link between agrin signalling and Cav3.2 at the neuromuscular junction in spinal muscular atrophy.
      Title: A link between agrin signalling and Ca(v)3.2 at the neuromuscular junction in spinal muscular atrophy.
    7. Mechanistic contribution of CaV3.2 calcium channels to trigeminal neuralgia pathophysiology not clarified.
      Title: Mechanistic contribution of CaV3.2 calcium channels to trigeminal neuralgia pathophysiology not clarified.
    8. Cav 3.2 T-type calcium channel regulates mouse platelet activation and arterial thrombosis.
      Title: Ca(v) 3.2 T-type calcium channel regulates mouse platelet activation and arterial thrombosis.
    9. [Effects of CACNA1H gene knockout on autistic-like behaviors and the morphology of hippocampal neurons in mice].
      Title: [Effects of CACNA1H gene knockout on autistic-like behaviors and the morphology of hippocampal neurons in mice].
    10. Targeting the T-type calcium channel Cav3.2 in GABAergic arcuate nucleus neurons to treat obesity.
      Title: Targeting the T-type calcium channel Cav3.2 in GABAergic arcuate nucleus neurons to treat obesity.
    Submit: New GeneRIF Correction See all GeneRIFs (94)

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (4) 
    • Targeted (5)  1 citation

    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 low voltage-gated calcium channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables low voltage-gated calcium channel activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables low voltage-gated calcium channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables scaffold protein binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables voltage-gated monoatomic ion channel activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables voltage-gated monoatomic ion channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables voltage-gated sodium channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in aldosterone biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in calcium ion import IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in calcium ion import ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in calcium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in calcium ion transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in cortisol biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in inorganic cation transmembrane transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in inorganic cation transmembrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in membrane depolarization during action potential IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of acrosome reaction ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of calcium ion-dependent exocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of cardiac muscle cell contraction ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of membrane potential ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in caveola IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in dendrite ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in glutamatergic synapse IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in neuron projection IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in perikaryon ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    is_active_in postsynaptic membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in presynaptic active zone membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in sarcolemma IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of voltage-gated calcium channel complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    part_of voltage-gated sodium channel complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    voltage-dependent T-type calcium channel subunit alpha-1H
    Names
    T-type Cav3.2
    calcium channel alpha13.2 subunit
    low-voltage-activated calcium channel alpha13.2 subunit
    voltage-gated calcium channel subunit alpha Cav3.2

    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_001163691.1 → NP_001157163.1  voltage-dependent T-type calcium channel subunit alpha-1H isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice junction at the 5' end of a coding exon compared to variant 1, that causes a frameshift. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC122454, AI834839, AK147242
      UniProtKB/Swiss-Prot
      B2RQQ0, E9QNT0, O88427, Q80TJ2, Q9JKU5
      UniProtKB/TrEMBL
      E0CYZ3
      Related
      ENSMUSP00000123741.3, ENSMUST00000159048.9
      Conserved Domains (1) summary
      pfam00520
      Location:807 → 1023
      Ion_trans; Ion transport protein

    2. NM_021415.4 → NP_067390.4  voltage-dependent T-type calcium channel subunit alpha-1H isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC122454, AI834839, AK135951, AK147242
      Consensus CDS
      CCDS37501.1
      UniProtKB/Swiss-Prot
      B2RQQ0, E9QNT0, O88427, Q80TJ2, Q9JKU5
      UniProtKB/TrEMBL
      E9Q6E4, E9Q6P9
      Related
      ENSMUSP00000125541.2, ENSMUST00000159610.8
      Conserved Domains (1) summary
      pfam00520
      Location:807 → 1023
      Ion_trans; Ion transport protein

    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_000083.7 Reference GRCm39 C57BL/6J

      Range
      25593259..25655308 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006524734.4 → XP_006524797.1  voltage-dependent T-type calcium channel subunit alpha-1H isoform X2

      UniProtKB/Swiss-Prot
      B2RQQ0, E9QNT0, O88427, Q80TJ2, Q9JKU5
      UniProtKB/TrEMBL
      A0AAA9WW37
      Related
      ENSMUSP00000159917.1, ENSMUST00000249751.1
      Conserved Domains (3) summary
      PHA03247
      Location:1943 → 2358
      PHA03247; large tegument protein UL36; Provisional
      PHA03307
      Location:1058 → 1219
      PHA03307; transcriptional regulator ICP4; Provisional
      pfam00520
      Location:789 → 1023
      Ion_trans; Ion transport protein

    2. XM_006524733.4 → XP_006524796.1  voltage-dependent T-type calcium channel subunit alpha-1H isoform X1

      UniProtKB/Swiss-Prot
      B2RQQ0, E9QNT0, O88427, Q80TJ2, Q9JKU5
      Conserved Domains (3) summary
      PHA03247
      Location:1945 → 2360
      PHA03247; large tegument protein UL36; Provisional
      PHA03307
      Location:1058 → 1219
      PHA03307; transcriptional regulator ICP4; Provisional
      pfam00520
      Location:789 → 1023
      Ion_trans; Ion transport protein

    3. XM_011246555.3 → XP_011244857.1  voltage-dependent T-type calcium channel subunit alpha-1H isoform X3

      Conserved Domains (2) summary
      PHA03307
      Location:1058 → 1219
      PHA03307; transcriptional regulator ICP4; Provisional
      pfam00520
      Location:789 → 1023
      Ion_trans; Ion transport protein

    RNA

    1. XR_385353.4 RNA Sequence

    2. XR_385352.4 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O88427.3 GenPept UniProtKB/Swiss-Prot:O88427

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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