CACNA1D (calcium voltage-gated channel subunit alpha1 D)

Gene
Gene SNPs Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
776
Gene name Gene Name - the full gene name approved by the HGNC.
Calcium voltage-gated channel subunit alpha1 D
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CACNA1D
Synonyms (NCBI Gene) Gene synonyms aliases
CACH3, CACN4, CACNL1A2, CCHL1A2, Cav1.3, PASNA, SANDD
Disease Acronyms (UniProt) Disease acronyms from UniProt database
PASNA, SANDD
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p21.1
Summary Summary of gene provided in NCBI Entrez Gene.
Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium c
SNPs SNP information provided by dbSNP.
Gene SNPs Other IDs Associated diseases
Show/Hide all(13)
SNP ID Visualize variation Clinical significance Consequence
rs35874056 G>A Conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant
rs41276445 C>A,G,T Likely-pathogenic, pathogenic, likely-benign, uncertain-significance Coding sequence variant, synonymous variant, missense variant
rs146747080 G>A Likely-benign, conflicting-interpretations-of-pathogenicity, benign Coding sequence variant, synonymous variant
rs150266932 G>A,C Conflicting-interpretations-of-pathogenicity, likely-benign Coding sequence variant, synonymous variant
rs186968009 T>G Conflicting-interpretations-of-pathogenicity, likely-benign Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs Other IDs Associated diseases
Show/Hide all(28)
miRTarBase ID miRNA Experiments Reference
MIRT441027 hsa-miR-136-5p HITS-CLIP 24374217
MIRT441027 hsa-miR-136-5p HITS-CLIP 24374217
MIRT857554 hsa-miR-134 CLIP-seq
MIRT857555 hsa-miR-190 CLIP-seq
MIRT857556 hsa-miR-190b CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Other IDs Associated diseases
Show/Hide all(34)
GO ID Ontology Definition Evidence Reference
GO:0005245 Function Voltage-gated calcium channel activity IBA 21873635
GO:0005245 Function Voltage-gated calcium channel activity IDA 11160515, 21131953
GO:0005262 Function Calcium channel activity IMP 25620733, 28472301
GO:0005515 Function Protein binding IPI 30058071
GO:0005886 Component Plasma membrane ISS 21859974
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Other IDs Associated diseases
MIM HGNC e!Ensembl
114206 1391 ENSG00000157388
Protein
Gene SNPs Other IDs Associated diseases
UniProt ID Q01668
Protein name Voltage-dependent L-type calcium channel subunit alpha-1D (Calcium channel, L type, alpha-1 polypeptide, isoform 2) (Voltage-gated calcium channel subunit alpha Cav1.3)
Protein function Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expressio
PDB 3LV3 , 7UHF , 7UHG , 8E59 , 8E5A , 8E5B
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00520 Ion_trans 125 → 417 Ion transport protein Family
PF00520 Ion_trans 522 → 762 Ion transport protein Family
PF00520 Ion_trans 885 → 1163 Ion transport protein Family
PF00520 Ion_trans 1204 → 1475 Ion transport protein Family
PF16905 GPHH 1484 → 1537 Voltage-dependent L-type calcium channel, IQ-associated Family
PF08763 Ca_chan_IQ 1547 → 1621 Voltage gated calcium channel IQ domain Domain
PF16885 CAC1F_C 1642 → 1962 Voltage-gated calcium channel subunit alpha, C-term Family
PF16885 CAC1F_C 1965 → 2160 Voltage-gated calcium channel subunit alpha, C-term Family
Tissue specificity TISSUE SPECIFICITY: Expressed in pancreatic islets and in brain, where it has been seen in cerebral cortex, hippocampus, basal ganglia, habenula and thalamus. Expressed in the small cell lung carcinoma cell line SCC-9. No expression in skeletal muscle. {E
Sequence 
MMMMMMMKKMQHQRQQQADHANEANYARGTRLPLSGEGPTSQPNSSKQTVLSWQAAIDAA
RQAKAAQTMSTSAPPPVGSLSQRKRQQYAKSKKQGNSSNSRPARALFCLSLNNPIRRACI
SIVEWKPFDIFILLAIFANCVALAIYIPFPEDDSNSTNHNLEKVEYAFLIIFTVETFLKI
IAYGLLLHPNAYVRNGWNLLDFVIVIVGLFSVILEQLTKETEGGNHSSGKSGGFDVKALR
AFRVLRPLRLVSGVPSLQVVLNSIIKAMVPLLHIALLVLFVIIIYAIIGLELFIGKMHKT
CFFADSDIVAEEDPAPCAFSGNGRQCTANGTECRSGWVGPNGGITNFDNFAFAMLTVFQC
ITMEGWTDVLYWMNDAMGFELPWVYFVSLVIFGSFFVLNLVLGVLSGEFSKEREKAKARG
DFQKLREKQQLEEDLKGYLDWITQAEDIDPENEEEGGEEGKRNTSMPTSETESVNTENVS
GEGENRGCCGSLCQAISKSKLSRRWRRWNRFNRRRCRAAVKSVTFYWLVIVLVFLNTLTI
SSEHYNQPDWLTQIQDIANKVLLALFTCEMLVKMYSLGLQAYFVSLFNRFDCFVVCGGIT
ETILVELEIMSPLGISVFRCVRLLRIFKVTRHWTSLSNLVASLLNSMKSIASLLLLLFLF
IIIFSLLGMQLFGGKFNFDETQTKRSTFDNFPQALLTVFQILTGEDWNAVMYDGIMAYGG
PSSSGMIVCIYFIILFICGNYILLNVFLAIAVDNLADAESLNTAQKEEAEEKERKKIARK
ESLENKKNNKPEVNQIANSDNKVTIDDYREEDEDKDPYPPCDVPVGEEEEEEEEDEPEVP
AGPRPRRISELNMKEKIAPIPEGSAFFILSKTNPIRVGCHKLINHHIFTNLILVFIMLSS
AALAAEDPIRSHSFRNTILGYFDYAFTAIFTVEILLKMTTFGAFLHKGAFCRNYFNLLDM
LVVGVSLVSFGIQSSAISVVKILRVLRVLRPLRAINRAKGLKHVVQCVFVAIRTIGNIMI
VTTLLQFMFACIGVQLFKGKFYRCTDEAKSNPEECRGLFILYKDGDVDSPVVRERIWQNS
DFNFDNVLSAMMALFTVSTFEGWPALLYKAIDSNGENIGPIYNHRVEISIFFIIYIIIVA
FFMMNIFVGFVIVTFQEQGEKEYKNCELDKNQRQCVEYALKARPLRRYIPKNPYQYKFWY
VVNSSPFEYMMFVLIMLNTLCLAMQHYEQSKMFNDAMDILNMVFTGVFTVEMVLKVIAFK
PKGYFSDAWNTFDSLIVIGSIIDVALSEADPTESENVPVPTATPGNSEESNRISITFFRL
FRVMRLVKLLSRGEGIRTLLWTFIKSFQALPYVALLIAMLFFIYAVIGMQMFGKVAMRDN
NQINRNNNFQTFPQAVLLLFRCATGEAWQEIMLACLPGKLCDPESDYNPGEEYTCGSNFA
IVYFISFYMLCAFLIINLFVAVIMDNFDYLTRDWSILGPHHLDEFKRIWSEYDPEAKGRI
KHLDVVTLLRRIQPPLGFGKLCPHRVACKRLVAMNMPLNSDGTVMFNATLFALVRTALKI
KTEGNLEQANEELRAVIKKIWKKTSMKLLDQVVPPAGDDEVTVGKFYATFLIQDYFRKFK
KRKEQGLVGKYPAKNTTIALQAGLRTLHDIGPEIRRAISCDLQDDEPEETKREEEDDVFK
RNGALLGNHVNHVNSDRRDSLQQTNTTHRPLHVQRPSIPPASDTEKPLFPPAGNSVCHNH
HNHNSIGKQVPTSTNANLNNANMSKAAHGKRPSIGNLEHVSENGHHSSHKHDREPQRRSS
VKRTRYYETYIRSDSGDEQLPTICREDPEIHGYFRDPHCLGEQEYFSSEECYEDDSSPTW
SRQNYGYYSRYPGRNIDSERPRGYHHPQGFLEDDDSPVCYDSRRSPRRRLLPPTPASHRR
SSFNFECLRRQSSQEEVPSSPIFPHRTALPLHLMQQQIMAVAGLDSSKAQKYSPSHSTRS
WATPPATPPYRDWTPCYTPLIQVEQSEALDQVNGSLPSLHRSSWYTDEPDISYRTFTPAS
LTVPSSFRNKNSDKQRSADSLVEAVLISEGLGRYARDPKFVSATKHEIADACDLTIDEME
SAASTLLNGNVRPRANGDVGPLSHRQDYELQDFGPGYSDEEPDPGRDEEDLADEMICITT
L
Sequence length 2161
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs Other IDs Associated diseases
Show/Hide Unknown Diseases (6)
Unknown
Disease term Disease name Evidence References Source
Adenoma aldosterone-producing adenoma with seizures and neurological abnormalities GenCC
Schizophrenia Schizophrenia GWAS
Hypertension Hypertension GWAS
Insomnia Insomnia GWAS
Show/Hide Text Mining Associations (68)
Associations from Text Mining
Disease Name Relationship Type References
ACTH Secreting Pituitary Adenoma Associate 26743443
Adenocarcinoma Clear Cell Associate 37697729
Adenocarcinoma of Lung Associate 34111567
Adenoma Associate 24866132
Adrenal Hyperplasia Congenital Associate 34232123
Adrenocortical Adenoma Associate 26765578, 31789380
Arrhythmias Cardiac Associate 39551029
Attention Deficit Disorder with Hyperactivity Associate 36430690
Autism Spectrum Disorder Associate 25620733, 28472301, 30465465, 31838722, 31921405, 35220405, 35453044, 38553610
Autistic Disorder Associate 25620733, 28472301, 31921405, 36430690