• Gene id: 8912

Gene Summary

• Gene Symbol: CACNA1H   Gene   UCSC   Ensembl
• Aliases: CACNA1HB, Cav3.2, ECA6, EIG6, HALD4
• Gene name: calcium voltage-gated channel subunit alpha1 H
• Alternate names: voltage-dependent T-type calcium channel subunit alpha-1H, calcium channel, voltage-dependent, T type, alpha 1H subunit, calcium channel, voltage-dependent, T type, alpha 1Hb subunit, low-voltage-activated calcium channel alpha1 3.2 subunit, low-voltage-activ,
• Gene location: 16p13.3 (1153105: 1221771)     Exons: 36     NC_000016.10
• Gene summary(Entrez): This gene encodes a T-type member of the alpha-1 subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1,

Protein Summary

• Protein general information: O95180  
  • Name: Voltage dependent T type calcium channel subunit alpha 1H (Low voltage activated calcium channel alpha1 3.2 subunit) (Voltage gated calcium channel subunit alpha Cav3.2)
  • Length: 2353  
  • Mass: 259163
  • Tissue specificity: In nonneuronal tissues, the highest expression levels are found in the kidney, liver, and heart. In the brain, most abundant in the amygdala, caudate nucleus, and putamen (PubMed
• Sequence:

  MTEGARAADEVRVPLGAPPPGPAALVGASPESPGAPGREAERGSELGVSPSESPAAERGAELGADEEQRVPYPAL
  AATVFFCLGQTTRPRSWCLRLVCNPWFEHVSMLVIMLNCVTLGMFRPCEDVECGSERCNILEAFDAFIFAFFAVE
  MVIKMVALGLFGQKCYLGDTWNRLDFFIVVAGMMEYSLDGHNVSLSAIRTVRVLRPLRAINRVPSMRILVTLLLD
  TLPMLGNVLLLCFFVFFIFGIVGVQLWAGLLRNRCFLDSAFVRNNNLTFLRPYYQTEEGEENPFICSSRRDNGMQ
  KCSHIPGRRELRMPCTLGWEAYTQPQAEGVGAARNACINWNQYYNVCRSGDSNPHNGAINFDNIGYAWIAIFQVI
  TLEGWVDIMYYVMDAHSFYNFIYFILLIIVGSFFMINLCLVVIATQFSETKQRESQLMREQRARHLSNDSTLASF
  SEPGSCYEELLKYVGHIFRKVKRRSLRLYARWQSRWRKKVDPSAVQGQGPGHRQRRAGRHTASVHHLVYHHHHHH
  HHHYHFSHGSPRRPGPEPGACDTRLVRAGAPPSPPSPGRGPPDAESVHSIYHADCHIEGPQERARVAHAAATAAA
  SLRLATGLGTMNYPTILPSGVGSGKGSTSPGPKGKWAGGPPGTGGHGPLSLNSPDPYEKIPHVVGEHGLGQAPGH
  LSGLSVPCPLPSPPAGTLTCELKSCPYCTRALEDPEGELSGSESGDSDGRGVYEFTQDVRHGDRWDPTRPPRATD
  TPGPGPGSPQRRAQQRAAPGEPGWMGRLWVTFSGKLRRIVDSKYFSRGIMMAILVNTLSMGVEYHEQPEELTNAL
  EISNIVFTSMFALEMLLKLLACGPLGYIRNPYNIFDGIIVVISVWEIVGQADGGLSVLRTFRLLRVLKLVRFLPA
  LRRQLVVLVKTMDNVATFCTLLMLFIFIFSILGMHLFGCKFSLKTDTGDTVPDRKNFDSLLWAIVTVFQILTQED
  WNVVLYNGMASTSSWAALYFVALMTFGNYVLFNLLVAILVEGFQAEGDANRSDTDEDKTSVHFEEDFHKLRELQT
  TELKMCSLAVTPNGHLEGRGSLSPPLIMCTAATPMPTPKSSPFLDAAPSLPDSRRGSSSSGDPPLGDQKPPASLR
  SSPCAPWGPSGAWSSRRSSWSSLGRAPSLKRRGQCGERESLLSGEGKGSTDDEAEDGRAAPGPRATPLRRAESLD
  PRPLRPAALPPTKCRDRDGQVVALPSDFFLRIDSHREDAAELDDDSEDSCCLRLHKVLEPYKPQWCRSREAWALY
  LFSPQNRFRVSCQKVITHKMFDHVVLVFIFLNCVTIALERPDIDPGSTERVFLSVSNYIFTAIFVAEMMVKVVAL
  GLLSGEHAYLQSSWNLLDGLLVLVSLVDIVVAMASAGGAKILGVLRVLRLLRTLRPLRVISRAPGLKLVVETLIS
  SLRPIGNIVLICCAFFIIFGILGVQLFKGKFYYCEGPDTRNISTKAQCRAAHYRWVRRKYNFDNLGQALMSLFVL
  SSKDGWVNIMYDGLDAVGVDQQPVQNHNPWMLLYFISFLLIVSFFVLNMFVGVVVENFHKCRQHQEAEEARRREE
  KRLRRLERRRRSTFPSPEAQRRPYYADYSPTRRSIHSLCTSHYLDLFITFIICVNVITMSMEHYNQPKSLDEALK
  YCNYVFTIVFVFEAALKLVAFGFRRFFKDRWNQLDLAIVLLSLMGITLEEIEMSAALPINPTIIRIMRVLRIARV
  LKLLKMATGMRALLDTVVQALPQVGNLGLLFMLLFFIYAALGVELFGRLECSEDNPCEGLSRHATFSNFGMAFLT
  LFRVSTGDNWNGIMKDTLRECSREDKHCLSYLPALSPVYFVTFVLVAQFVLVNVVVAVLMKHLEESNKEAREDAE
  LDAEIELEMAQGPGSARRVDADRPPLPQESPGARDAPNLVARKVSVSRMLSLPNDSYMFRPVVPASAPHPRPLQE
  VEMETYGAGTPLGSVASVHSPPAESCASLQIPLAVSSPARSGEPLHALSPRGTARSPSLSRLLCRQEAVHTDSLE
  GKIDSPRDTLDPAEPGEKTPVRPVTQGGSLQSPPRSPRPASVRTRKHTFGQRCVSSRPAAPGGEEAEASDPADEE
  VSHITSSACPWQPTAEPHGPEASPVAGGERDLRRLYSVDAQGFLDKPGRADEQWRPSAELGSGEPGEAKAWGPEA
  EPALGARRKKKMSPPCISVEPPAEDEGSARPSAAEGGSTTLRRRTPSCEATPHRDSLEPTEGSGAGGDPAAKGER
  WGQASCRAEHLTVPSFAFEPLDLGVPSGDPFLDGSHSVTPESRASSSGAIVPLEPPESEPPMPVGDPPEKRRGLY
  LTVPQCPLEKPGSPSATPAPGGGADDPV

• Structural information:
  • Interpro: IPR005821  IPR005445  IPR027359  
  • STRING: ENSP00000334198
• Other Databases: GeneCards:  CACNA1H  Malacards:  CACNA1H

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0086010	membrane depolarization during action potential	IBA	biological process
GO:0005248	voltage-gated sodium channel activity	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0043005	neuron projection	IBA	cellular component
GO:0045956	positive regulation of calcium ion-dependent exocytosis	IBA	biological process
GO:0070509	calcium ion import	IBA	biological process
GO:0001518	voltage-gated sodium channel complex	IBA	cellular component
GO:0005261	cation channel activity	IBA	molecular function
GO:0008332	low voltage-gated calcium channel activity	IBA	molecular function
GO:0019228	neuronal action potential	IBA	biological process
GO:0005244	voltage-gated ion channel activity	IDA	molecular function
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0098662	inorganic cation transmembrane transport	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005245	voltage-gated calcium channel activity	IEA	molecular function
GO:0005261	cation channel activity	IEA	molecular function
GO:0005216	ion channel activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0005891	voltage-gated calcium channel complex	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0005262	calcium channel activity	IEA	molecular function
GO:0006816	calcium ion transport	IEA	biological process
GO:0005244	voltage-gated ion channel activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0006811	ion transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0034765	regulation of ion transmembrane transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0008332	low voltage-gated calcium channel activity	TAS	molecular function
GO:0005891	voltage-gated calcium channel complex	TAS	cellular component
GO:0006936	muscle contraction	TAS	biological process
GO:0007520	myoblast fusion	TAS	biological process
GO:0007517	muscle organ development	NAS	biological process
GO:0008016	regulation of heart contraction	TAS	biological process
GO:0008332	low voltage-gated calcium channel activity	IDA	molecular function
GO:0097110	scaffold protein binding	IPI	molecular function
GO:0070509	calcium ion import	IDA	biological process
GO:0016021	integral component of membrane	IDA	cellular component
GO:0042391	regulation of membrane potential	IDA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0035725	sodium ion transmembrane transport	IEA	biological process
GO:0035865	cellular response to potassium ion	IEP	biological process
GO:0034651	cortisol biosynthetic process	IMP	biological process
GO:0032342	aldosterone biosynthetic process	IMP	biological process
GO:2000344	positive regulation of acrosome reaction	IMP	biological process
GO:0032870	cellular response to hormone stimulus	IEP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04010	MAPK signaling pathway
hsa04020	Calcium signaling pathway
hsa04934	Cushing syndrome
hsa04713	Circadian entrainment
hsa04925	Aldosterone synthesis and secretion
hsa04927	Cortisol synthesis and secretion
hsa04929	GnRH secretion

Diseases

Associated diseases	References
Idiopathic generalized epilepsies	KEGG:H00808
Childhood absence epilepsy	KEGG:H02215
Primary aldosteronism	KEGG:H01603
Idiopathic generalized epilepsies	KEGG:H00808
Childhood absence epilepsy	KEGG:H02215
Primary aldosteronism	KEGG:H01603
Childhood absence epilepsy	PMID:12891677
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq