• Gene id: 774

Gene Summary

• Gene Symbol: CACNA1B   Gene   UCSC   Ensembl
• Aliases: BIII, CACNL1A5, CACNN, Cav2.2, DYT23, NEDNEH
• Gene name: calcium voltage-gated channel subunit alpha1 B
• Alternate names: voltage-dependent N-type calcium channel subunit alpha-1B, Cav2.2 voltage-gated Ca2+ channel, brain calcium channel III, calcium channel alpha12.2 subunit, calcium channel, L type, alpha-1 polypeptide, calcium channel, voltage-dependent, L type, alpha 1B subun,
• Gene location: 9q34.3 (137877781: 138124618)     Exons: 47     NC_000009.12
• Gene summary(Entrez): The protein encoded by this gene is the pore-forming subunit of an N-type voltage-dependent calcium channel, which controls neurotransmitter release from neurons. The encoded protein forms a complex with alpha-2, beta, and delta subunits to form the high-
• OMIM: 618368

Protein Summary

• Protein general information: Q00975  
  • Name: Voltage dependent N type calcium channel subunit alpha 1B (Brain calcium channel III) (BIII) (Calcium channel, L type, alpha 1 polypeptide isoform 5) (Voltage gated calcium channel subunit alpha Cav2.2)
  • Length: 2339  
  • Mass: 262496
  • Tissue specificity: Isoform Alpha-1b-1 and isoform Alpha-1b-2 are expressed in the central nervous system, but not in skeletal muscle or aorta. Expressed in the cerebral white matter, cortex, hippocampus, basal ganglia, and cerebellum (PubMed
• Sequence:

  MVRFGDELGGRYGGPGGGERARGGGAGGAGGPGPGGLQPGQRVLYKQSIAQRARTMALYNPIPVKQNCFTVNRSL
  FVFSEDNVVRKYAKRITEWPPFEYMILATIIANCIVLALEQHLPDGDKTPMSERLDDTEPYFIGIFCFEAGIKII
  ALGFVFHKGSYLRNGWNVMDFVVVLTGILATAGTDFDLRTLRAVRVLRPLKLVSGIPSLQVVLKSIMKAMVPLLQ
  IGLLLFFAILMFAIIGLEFYMGKFHKACFPNSTDAEPVGDFPCGKEAPARLCEGDTECREYWPGPNFGITNFDNI
  LFAILTVFQCITMEGWTDILYNTNDAAGNTWNWLYFIPLIIIGSFFMLNLVLGVLSGEFAKERERVENRRAFLKL
  RRQQQIERELNGYLEWIFKAEEVMLAEEDRNAEEKSPLDVLKRAATKKSRNDLIHAEEGEDRFADLCAVGSPFAR
  ASLKSGKTESSSYFRRKEKMFRFFIRRMVKAQSFYWVVLCVVALNTLCVAMVHYNQPRRLTTTLYFAEFVFLGLF
  LTEMSLKMYGLGPRSYFRSSFNCFDFGVIVGSVFEVVWAAIKPGSSFGISVLRALRLLRIFKVTKYWSSLRNLVV
  SLLNSMKSIISLLFLLFLFIVVFALLGMQLFGGQFNFQDETPTTNFDTFPAAILTVFQILTGEDWNAVMYHGIES
  QGGVSKGMFSSFYFIVLTLFGNYTLLNVFLAIAVDNLANAQELTKDEEEMEEAANQKLALQKAKEVAEVSPMSAA
  NISIAARQQNSAKARSVWEQRASQLRLQNLRASCEALYSEMDPEERLRFATTRHLRPDMKTHLDRPLVVELGRDG
  ARGPVGGKARPEAAEAPEGVDPPRRHHRHRDKDKTPAAGDQDRAEAPKAESGEPGAREERPRPHRSHSKEAAGPP
  EARSERGRGPGPEGGRRHHRRGSPEEAAEREPRRHRAHRHQDPSKECAGAKGERRARHRGGPRAGPREAESGEEP
  ARRHRARHKAQPAHEAVEKETTEKEATEKEAEIVEADKEKELRNHQPREPHCDLETSGTVTVGPMHTLPSTCLQK
  VEEQPEDADNQRNVTRMGSQPPDPNTIVHIPVMLTGPLGEATVVPSGNVDLESQAEGKKEVEADDVMRSGPRPIV
  PYSSMFCLSPTNLLRRFCHYIVTMRYFEVVILVVIALSSIALAAEDPVRTDSPRNNALKYLDYIFTGVFTFEMVI
  KMIDLGLLLHPGAYFRDLWNILDFIVVSGALVAFAFSGSKGKDINTIKSLRVLRVLRPLKTIKRLPKLKAVFDCV
  VNSLKNVLNILIVYMLFMFIFAVIAVQLFKGKFFYCTDESKELERDCRGQYLDYEKEEVEAQPRQWKKYDFHYDN
  VLWALLTLFTVSTGEGWPMVLKHSVDATYEEQGPSPGYRMELSIFYVVYFVVFPFFFVNIFVALIIITFQEQGDK
  VMSECSLEKNERACIDFAISAKPLTRYMPQNRQSFQYKTWTFVVSPPFEYFIMAMIALNTVVLMMKFYDAPYEYE
  LMLKCLNIVFTSMFSMECVLKIIAFGVLNYFRDAWNVFDFVTVLGSITDILVTEIAETNNFINLSFLRLFRAARL
  IKLLRQGYTIRILLWTFVQSFKALPYVCLLIAMLFFIYAIIGMQVFGNIALDDDTSINRHNNFRTFLQALMLLFR
  SATGEAWHEIMLSCLSNQACDEQANATECGSDFAYFYFVSFIFLCSFLMLNLFVAVIMDNFEYLTRDSSILGPHH
  LDEFIRVWAEYDPAACGRISYNDMFEMLKHMSPPLGLGKKCPARVAYKRLVRMNMPISNEDMTVHFTSTLMALIR
  TALEIKLAPAGTKQHQCDAELRKEISVVWANLPQKTLDLLVPPHKPDEMTVGKVYAALMIFDFYKQNKTTRDQMQ
  QAPGGLSQMGPVSLFHPLKATLEQTQPAVLRGARVFLRQKSSTSLSNGGAIQNQESGIKESVSWGTQRTQDAPHE
  ARPPLERGHSTEIPVGRSGALAVDVQMQSITRRGPDGEPQPGLESQGRAASMPRLAAETQPVTDASPMKRSISTL
  AQRPRGTHLCSTTPDRPPPSQASSHHHHHRCHRRRDRKQRSLEKGPSLSADMDGAPSSAVGPGLPPGEGPTGCRR
  ERERRQERGRSQERRQPSSSSSEKQRFYSCDRFGGREPPKPKPSLSSHPTSPTAGQEPGPHPQGSGSVNGSPLLS
  TSGASTPGRGGRRQLPQTPLTPRPSITYKTANSSPIHFAGAQTSLPAFSPGRLSRGLSEHNALLQRDPLSQPLAP
  GSRIGSDPYLGQRLDSEASVHALPEDTLTFEEAVATNSGRSSRTSYVSSLTSQSHPLRRVPNGYHCTLGLSSGGR
  ARHSYHHPDQDHWC

• Structural information:
  • Protein Domains: (1724..175-)
    (/note="EF-hand-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448"-)
  • Interpro: IPR002048  IPR031649  IPR005821  IPR014873  IPR005447   IPR002077  IPR027359  
  • Prosite: PS50222
  • PDB: 2LCM
  • PDBsum: 2LCM
  • STRING: ENSP00000360423
• Other Databases: GeneCards:  CACNA1B  Malacards:  CACNA1B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001540	amyloid-beta binding	IC	molecular function
GO:1904645	response to amyloid-beta	IDA	biological process
GO:0008331	high voltage-gated calcium channel activity	IMP	molecular function
GO:0050804	modulation of chemical synaptic transmission	IDA	biological process
GO:0006816	calcium ion transport	IBA	biological process
GO:0007268	chemical synaptic transmission	IBA	biological process
GO:0070509	calcium ion import	IBA	biological process
GO:0005245	voltage-gated calcium channel activity	IBA	molecular function
GO:0005245	voltage-gated calcium channel activity	IEA	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0005216	ion channel activity	IEA	molecular function
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:0006816	calcium ion transport	IEA	biological process
GO:0005262	calcium channel activity	IEA	molecular function
GO:0005244	voltage-gated ion channel activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0034765	regulation of ion transmembrane transport	IEA	biological process
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0005245	voltage-gated calcium channel activity	TAS	molecular function
GO:0005891	voltage-gated calcium channel complex	TAS	cellular component
GO:0007268	chemical synaptic transmission	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0051899	membrane depolarization	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0051924	regulation of calcium ion transport	IEA	biological process
GO:0030425	dendrite	IEA	cellular component
GO:0008217	regulation of blood pressure	IEA	biological process
GO:0008016	regulation of heart contraction	IEA	biological process
GO:0007626	locomotory behavior	IEA	biological process
GO:0007269	neurotransmitter secretion	IEA	biological process
GO:0006816	calcium ion transport	IEA	biological process
GO:0005245	voltage-gated calcium channel activity	IEA	molecular function
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0048265	response to pain	IEA	biological process
GO:0043025	neuronal cell body	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0008331	high voltage-gated calcium channel activity	IEA	molecular function
GO:0005891	voltage-gated calcium channel complex	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0098793	presynapse	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0008022	protein C-terminus binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05016	Huntington disease
hsa04010	MAPK signaling pathway
hsa04020	Calcium signaling pathway
hsa04723	Retrograde endocannabinoid signaling
hsa04728	Dopaminergic synapse
hsa04725	Cholinergic synapse
hsa04726	Serotonergic synapse
hsa05032	Morphine addiction
hsa04727	GABAergic synapse
hsa04721	Synaptic vesicle cycle
hsa04930	Type II diabetes mellitus
hsa05033	Nicotine addiction

Diseases

Associated diseases	References
Primary dystonia	KEGG:H00831
Primary dystonia	KEGG:H00831
Lambert-Eaton myasthenic syndrome	PMID:16289869
Multiple sclerosis	PMID:11353727
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq