CACNA1I (calcium voltage-gated channel subunit alpha1 I) - Rat Genome Database
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Gene: CACNA1I (calcium voltage-gated channel subunit alpha1 I) Homo sapiens
Analyze
Symbol: CACNA1I
Name: calcium voltage-gated channel subunit alpha1 I
RGD ID: 68996
HGNC Page HGNC
Description: Predicted to have voltage-gated calcium channel activity. Predicted to be involved in calcium ion transport and regulation of membrane potential. Predicted to localize to voltage-gated calcium channel complex. Implicated in schizophrenia.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ca(v)3.3; calcium channel, voltage-dependent, alpha 1I subunit; calcium channel, voltage-dependent, T type, alpha 1I subunit; Cav3.3; KIAA1120; voltage-dependent T-type calcium channel subunit alpha-1I; voltage-gated calcium channel subunit alpha Cav3.3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2239,570,753 - 39,689,735 (+)EnsemblGRCh38hg38GRCh38
GRCh382239,570,753 - 39,689,737 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372239,966,758 - 40,085,740 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362238,296,704 - 38,415,686 (+)NCBINCBI36hg18NCBI36
Build 342238,291,257 - 38,410,238NCBI
Celera2223,768,830 - 23,887,794 (+)NCBI
Cytogenetic Map22q13.1NCBI
HuRef2222,931,166 - 23,048,848 (+)NCBIHuRef
CHM1_12239,925,499 - 40,044,841 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:10454147   PMID:10574461   PMID:10591208   PMID:10749850   PMID:11927664   PMID:12080115   PMID:12477932   PMID:15174051   PMID:15254077   PMID:16382099   PMID:16740636   PMID:16939858  
PMID:17535809   PMID:18591418   PMID:21873635   PMID:22883433   PMID:23382691   PMID:23488970   PMID:24709693   PMID:25454347   PMID:26488564   PMID:27756899   PMID:28165634   PMID:28330839  
PMID:28846697   PMID:28972185   PMID:29474447   PMID:30718321   PMID:31586073  


Genomics

Comparative Map Data
CACNA1I
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2239,570,753 - 39,689,735 (+)EnsemblGRCh38hg38GRCh38
GRCh382239,570,753 - 39,689,737 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372239,966,758 - 40,085,740 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362238,296,704 - 38,415,686 (+)NCBINCBI36hg18NCBI36
Build 342238,291,257 - 38,410,238NCBI
Celera2223,768,830 - 23,887,794 (+)NCBI
Cytogenetic Map22q13.1NCBI
HuRef2222,931,166 - 23,048,848 (+)NCBIHuRef
CHM1_12239,925,499 - 40,044,841 (+)NCBICHM1_1
Cacna1i
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391580,171,439 - 80,282,493 (+)NCBIGRCm39mm39
GRCm39 Ensembl1580,171,439 - 80,282,480 (+)Ensembl
GRCm381580,287,238 - 80,398,292 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1580,287,238 - 80,398,279 (+)EnsemblGRCm38mm10GRCm38
MGSCv371580,117,668 - 80,228,722 (+)NCBIGRCm37mm9NCBIm37
MGSCv361580,114,300 - 80,225,547 (+)NCBImm8
Celera1582,404,367 - 82,516,148 (+)NCBICelera
Cytogenetic Map15E1NCBI
Cacna1i
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27111,835,996 - 111,947,418 (+)NCBI
Rnor_6.0 Ensembl7121,511,097 - 121,619,283 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.07121,521,787 - 121,619,300 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.07121,509,362 - 121,609,542 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47118,582,279 - 118,681,537 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.17118,604,777 - 118,715,750 (+)NCBI
Celera7108,173,442 - 108,270,677 (+)NCBICelera
Cytogenetic Map7q34NCBI
Cacna1i
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541325,453,703 - 25,535,530 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541325,440,533 - 25,538,367 (+)NCBIChiLan1.0ChiLan1.0
CACNA1I
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12238,325,411 - 38,412,923 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2238,296,436 - 38,414,963 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02220,463,511 - 20,595,253 (+)NCBIMhudiblu_PPA_v0panPan3
CACNA1I
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl1025,380,943 - 25,482,852 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.11025,381,446 - 25,493,680 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Cacna1i
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049364921,990,430 - 2,030,744 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CACNA1I
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl58,595,142 - 8,712,393 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.158,593,014 - 8,702,734 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.255,894,595 - 6,011,363 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CACNA1I
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11922,129,795 - 22,264,485 (+)NCBI
ChlSab1.1 Ensembl1922,143,980 - 22,261,098 (+)Ensembl
Cacna1i
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247528,702,320 - 8,795,192 (-)NCBI

Position Markers
RH75338  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372240,085,395 - 40,085,643UniSTSGRCh37
Build 362238,415,341 - 38,415,589RGDNCBI36
Celera2223,887,449 - 23,887,697RGD
Cytogenetic Map22q13.1UniSTS
HuRef2223,048,503 - 23,048,751UniSTS
G49248  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372239,985,384 - 39,985,693UniSTSGRCh37
Build 362238,315,330 - 38,315,639RGDNCBI36
Celera2223,787,455 - 23,787,764RGD
Cytogenetic Map22q13.1UniSTS
HuRef2222,949,615 - 22,949,924UniSTS
D22S578  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372240,070,067 - 40,070,236UniSTSGRCh37
Build 362238,400,013 - 38,400,182RGDNCBI36
Celera2223,872,121 - 23,872,290RGD
Cytogenetic Map22q13.1UniSTS
HuRef2223,033,788 - 23,033,957UniSTS
G65376  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372240,041,918 - 40,042,304UniSTSGRCh37
Build 362238,371,864 - 38,372,250RGDNCBI36
Celera2223,843,974 - 23,844,360RGD
Cytogenetic Map22q13.1UniSTS
HuRef2223,005,969 - 23,006,355UniSTS
G65375  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372240,024,542 - 40,024,910UniSTSGRCh37
Build 362238,354,488 - 38,354,856RGDNCBI36
Celera2223,826,598 - 23,826,966RGD
Cytogenetic Map22q13.1UniSTS
HuRef2222,988,593 - 22,988,961UniSTS
D22S645  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372240,036,479 - 40,036,724UniSTSGRCh37
Build 362238,366,425 - 38,366,670RGDNCBI36
Celera2223,838,535 - 23,838,780RGD
Cytogenetic Map22q13.1UniSTS
HuRef2223,000,530 - 23,000,775UniSTS
Whitehead-RH Map22145.3UniSTS
G10206  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372240,028,566 - 40,028,784UniSTSGRCh37
Build 362238,358,512 - 38,358,730RGDNCBI36
Celera2223,830,622 - 23,830,840RGD
Cytogenetic Map22q13.1UniSTS
HuRef2222,992,617 - 22,992,835UniSTS
contig_249751  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372240,085,419 - 40,085,632UniSTSGRCh37
Celera2223,887,473 - 23,887,686UniSTS
HuRef2223,048,527 - 23,048,740UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:8321
Count of miRNA genes:1070
Interacting mature miRNAs:1341
Transcripts:ENST00000336649, ENST00000400164, ENST00000401624, ENST00000402142, ENST00000404898, ENST00000407673, ENST00000471970
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 36 2 343 36 2 9 857 1 3 333 2
Low 691 693 806 34 1062 27 1063 110 2415 50 612 886 8 263 642 2
Below cutoff 1615 2224 441 462 278 310 3175 1999 386 190 732 289 160 941 2104

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_052947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001003406 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_021096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029035 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB032946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF129133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF142567 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF211189 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF393329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL008716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL022312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL022319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC042972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  N52765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000401624   ⟹   ENSP00000383887
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2239,570,753 - 39,685,211 (+)Ensembl
RefSeq Acc Id: ENST00000402142   ⟹   ENSP00000385019
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2239,570,753 - 39,689,735 (+)Ensembl
RefSeq Acc Id: ENST00000404898   ⟹   ENSP00000384093
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2239,570,753 - 39,689,730 (+)Ensembl
RefSeq Acc Id: ENST00000407673   ⟹   ENSP00000385680
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2239,570,753 - 39,684,528 (+)Ensembl
RefSeq Acc Id: ENST00000471970
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2239,642,797 - 39,643,512 (+)Ensembl
RefSeq Acc Id: NM_001003406   ⟹   NP_001003406
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382239,570,753 - 39,689,735 (+)NCBI
GRCh372239,966,758 - 40,085,740 (+)ENTREZGENE
Build 362238,296,704 - 38,415,686 (+)NCBI Archive
HuRef2222,931,166 - 23,048,848 (+)ENTREZGENE
CHM1_12239,925,499 - 40,044,841 (+)NCBI
Sequence:
RefSeq Acc Id: NM_021096   ⟹   NP_066919
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382239,570,753 - 39,689,735 (+)NCBI
GRCh372239,966,758 - 40,085,740 (+)ENTREZGENE
Build 362238,296,704 - 38,415,686 (+)NCBI Archive
HuRef2222,931,166 - 23,048,848 (+)ENTREZGENE
CHM1_12239,925,499 - 40,044,841 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029035   ⟹   XP_016884524
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382239,652,889 - 39,689,737 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029036   ⟹   XP_016884525
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382239,652,890 - 39,689,737 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029037   ⟹   XP_016884526
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382239,652,889 - 39,689,737 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_066919   ⟸   NM_021096
- Peptide Label: isoform a
- UniProtKB: Q9P0X4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001003406   ⟸   NM_001003406
- Peptide Label: isoform b
- UniProtKB: Q9P0X4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016884526   ⟸   XM_017029037
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016884524   ⟸   XM_017029035
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016884525   ⟸   XM_017029036
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000383887   ⟸   ENST00000401624
RefSeq Acc Id: ENSP00000385019   ⟸   ENST00000402142
RefSeq Acc Id: ENSP00000384093   ⟸   ENST00000404898
RefSeq Acc Id: ENSP00000385680   ⟸   ENST00000407673


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3 copy number gain See cases [RCV000051684] Chr22:37061769..50738932 [GRCh38]
Chr22:37457809..51177360 [GRCh37]
Chr22:35787755..49524226 [NCBI36]
Chr22:22q12.3-13.33		 pathogenic
GRCh38/hg38 22q13.1-13.2(chr22:37721797-40860953)x3 copy number gain See cases [RCV000051685] Chr22:37721797..40860953 [GRCh38]
Chr22:38117804..41256957 [GRCh37]
Chr22:36447750..39586903 [NCBI36]
Chr22:22q13.1-13.2		 pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:33768441-50739977)x3 copy number gain See cases [RCV000051682] Chr22:33768441..50739977 [GRCh38]
Chr22:34164428..51178405 [GRCh37]
Chr22:32494428..49525271 [NCBI36]
Chr22:22q12.3-13.33		 pathogenic
NM_001003406.1(CACNA1I):c.2372T>C (p.Val791Ala) single nucleotide variant Malignant melanoma [RCV000072974] Chr22:39659725 [GRCh38]
Chr22:40055730 [GRCh37]
Chr22:38385676 [NCBI36]
Chr22:22q13.1		 not provided
NM_001003406.1(CACNA1I):c.236+2480G>A single nucleotide variant Lung cancer [RCV000102067] Chr22:39573468 [GRCh38]
Chr22:39969473 [GRCh37]
Chr22:22q13.1		 uncertain significance
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 copy number gain See cases [RCV000133646] Chr22:16916608..50739836 [GRCh38]
Chr22:17397498..51178264 [GRCh37]
Chr22:15777498..49525130 [NCBI36]
Chr22:22q11.1-13.33		 pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 copy number gain See cases [RCV000134730] Chr22:16916743..50739785 [GRCh38]
Chr22:17397633..51178213 [GRCh37]
Chr22:15777633..49525079 [NCBI36]
Chr22:22q11.1-13.33		 pathogenic
Single allele deletion Normal pregnancy [RCV000161907] Chr22:39653405..39669317 [GRCh38]
Chr22:40049410..40065322 [GRCh37]
Chr22:22q13.1		 not provided
NM_021096.4(CACNA1I):c.3917T>C (p.Ile1306Thr) single nucleotide variant not specified [RCV000238868] Chr22:39665563 [GRCh38]
Chr22:40061568 [GRCh37]
Chr22:22q13.1		 uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 copy number gain See cases [RCV000240091] Chr22:16054691..51237518 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3 copy number gain See cases [RCV000240469] Chr22:35728929..51220961 [GRCh37]
Chr22:22q12.3-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 copy number gain See cases [RCV000446956] Chr22:16054691..51220902 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 copy number gain See cases [RCV000448847] Chr22:16054691..51237463 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) copy number gain See cases [RCV000510873] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3 copy number gain See cases [RCV000512333] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3 copy number gain not provided [RCV000741689] Chr22:16054667..51243435 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 copy number gain not provided [RCV000741691] Chr22:16114244..51195728 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 copy number gain not provided [RCV000741692] Chr22:16114244..51211392 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NM_021096.4(CACNA1I):c.3810C>T (p.Val1270=) single nucleotide variant not provided [RCV000880946] Chr22:39664882 [GRCh38]
Chr22:40060887 [GRCh37]
Chr22:22q13.1		 benign
NM_021096.4(CACNA1I):c.5056-5C>T single nucleotide variant not provided [RCV000880947] Chr22:39679102 [GRCh38]
Chr22:40075107 [GRCh37]
Chr22:22q13.1		 benign
NM_021096.4(CACNA1I):c.1780G>T (p.Ala594Ser) single nucleotide variant not provided [RCV000884917] Chr22:39649713 [GRCh38]
Chr22:40045718 [GRCh37]
Chr22:22q13.1		 likely benign
NM_021096.4(CACNA1I):c.3325A>T (p.Met1109Leu) single nucleotide variant not provided [RCV000892720] Chr22:39662388 [GRCh38]
Chr22:40058393 [GRCh37]
Chr22:22q13.1		 likely benign
NM_021096.4(CACNA1I):c.6345C>G (p.Gly2115=) single nucleotide variant not provided [RCV000882786] Chr22:39686078 [GRCh38]
Chr22:40082083 [GRCh37]
Chr22:22q13.1		 likely benign
NM_021096.4(CACNA1I):c.2529C>T (p.Val843=) single nucleotide variant not provided [RCV000973627] Chr22:39659777 [GRCh38]
Chr22:40055782 [GRCh37]
Chr22:22q13.1		 benign
NM_021096.4(CACNA1I):c.4500C>T (p.Asn1500=) single nucleotide variant not provided [RCV000886249] Chr22:39670915 [GRCh38]
Chr22:40066920 [GRCh37]
Chr22:22q13.1		 benign
NM_021096.4(CACNA1I):c.5706G>C (p.Leu1902=) single nucleotide variant not provided [RCV000901477] Chr22:39682537 [GRCh38]
Chr22:40078542 [GRCh37]
Chr22:22q13.1		 likely benign
NM_021096.4(CACNA1I):c.5508C>T (p.Ala1836=) single nucleotide variant not provided [RCV000917523] Chr22:39679835 [GRCh38]
Chr22:40075840 [GRCh37]
Chr22:22q13.1		 likely benign
NM_021096.4(CACNA1I):c.1635G>A (p.Thr545=) single nucleotide variant not provided [RCV001200655] Chr22:39649568 [GRCh38]
Chr22:40045573 [GRCh37]
Chr22:22q13.1		 likely benign
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 copy number gain not provided [RCV000846344] Chr22:16888899..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NM_021096.4(CACNA1I):c.1866C>T (p.Cys622=) single nucleotide variant not provided [RCV000961760] Chr22:39649799 [GRCh38]
Chr22:40045804 [GRCh37]
Chr22:22q13.1		 benign
NM_021096.4(CACNA1I):c.2610C>T (p.Asp870=) single nucleotide variant not provided [RCV000967589] Chr22:39660349 [GRCh38]
Chr22:40056354 [GRCh37]
Chr22:22q13.1		 benign
NM_021096.4(CACNA1I):c.4269C>T (p.Leu1423=) single nucleotide variant not provided [RCV000881832] Chr22:39670112 [GRCh38]
Chr22:40066117 [GRCh37]
Chr22:22q13.1		 benign
NM_021096.4(CACNA1I):c.489C>T (p.Val163=) single nucleotide variant not provided [RCV000888876] Chr22:39619316 [GRCh38]
Chr22:40015321 [GRCh37]
Chr22:22q13.1		 benign
NM_021096.4(CACNA1I):c.5268T>C (p.His1756=) single nucleotide variant not provided [RCV000888877] Chr22:39679319 [GRCh38]
Chr22:40075324 [GRCh37]
Chr22:22q13.1		 benign
GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3 copy number gain not provided [RCV001007181] Chr22:30654764..51197838 [GRCh37]
Chr22:22q12.2-13.33		 pathogenic
NM_021096.4(CACNA1I):c.1503C>T (p.Leu501=) single nucleotide variant not provided [RCV000889328] Chr22:39647862 [GRCh38]
Chr22:40043867 [GRCh37]
Chr22:22q13.1		 benign
NM_021096.4(CACNA1I):c.777G>A (p.Pro259=) single nucleotide variant not provided [RCV000958258] Chr22:39640903 [GRCh38]
Chr22:40036908 [GRCh37]
Chr22:22q13.1		 benign|likely benign
NM_021096.4(CACNA1I):c.1599G>A (p.Ala533=) single nucleotide variant not provided [RCV000958259] Chr22:39649532 [GRCh38]
Chr22:40045537 [GRCh37]
Chr22:22q13.1		 benign
NM_021096.4(CACNA1I):c.819C>T (p.Gly273=) single nucleotide variant not provided [RCV000890590] Chr22:39640945 [GRCh38]
Chr22:40036950 [GRCh37]
Chr22:22q13.1		 benign
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3 copy number gain See cases [RCV001263056] Chr22:16197005..51224252 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1396 AgrOrtholog
COSMIC CACNA1I COSMIC
Ensembl Genes ENSG00000100346 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000383887 UniProtKB/Swiss-Prot
  ENSP00000384093 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000385019 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000385680 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000401624 UniProtKB/Swiss-Prot
  ENST00000402142 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000404898 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000407673 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.120.350 UniProtKB/Swiss-Prot
GTEx ENSG00000100346 GTEx
HGNC ID HGNC:1396 ENTREZGENE
Human Proteome Map CACNA1I Human Proteome Map
InterPro CACNA1I UniProtKB/Swiss-Prot
  Ion_trans_dom UniProtKB/Swiss-Prot
  VDCC_T_a1 UniProtKB/Swiss-Prot
  VDCCAlpha1 UniProtKB/Swiss-Prot
  VGCC_Ca_Na UniProtKB/Swiss-Prot
  Volt_channel_dom_sf UniProtKB/Swiss-Prot
KEGG Report hsa:8911 UniProtKB/Swiss-Prot
NCBI Gene 8911 ENTREZGENE
OMIM 608230 OMIM
PANTHER PTHR10037 UniProtKB/Swiss-Prot
  PTHR10037:SF209 UniProtKB/Swiss-Prot
Pfam Ion_trans UniProtKB/Swiss-Prot
PharmGKB PA26011 PharmGKB
PRINTS CACHANNEL UniProtKB/Swiss-Prot
  TVDCCALPHA1 UniProtKB/Swiss-Prot
UniProt CAC1I_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B0QY12 UniProtKB/Swiss-Prot
  B0QY13 UniProtKB/Swiss-Prot
  B0QY14 UniProtKB/Swiss-Prot
  O95504 UniProtKB/Swiss-Prot
  Q5JZ88 UniProtKB/Swiss-Prot
  Q7Z6S9 UniProtKB/Swiss-Prot
  Q8NFX6 UniProtKB/Swiss-Prot
  Q9NZC8 UniProtKB/Swiss-Prot
  Q9UH15 UniProtKB/Swiss-Prot
  Q9UH30 UniProtKB/Swiss-Prot
  Q9ULU9 UniProtKB/Swiss-Prot
  Q9UNE6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-10 CACNA1I  calcium voltage-gated channel subunit alpha1 I    calcium channel, voltage-dependent, T type, alpha 1I subunit  Symbol and/or name change 5135510 APPROVED