Aliases for CACNA1G Gene
Aliases for CACNA1G Gene
- Calcium Voltage-Gated Channel Subunit Alpha1 G 2 3 5
- Calcium Channel, Voltage-Dependent, T Type, Alpha 1G Subunit 2 3
- Voltage-Gated Calcium Channel Subunit Alpha Cav3.1 3 4
- Cav3.1c 3 4
- NBR13 3 4
- Voltage-Dependent T-Type Calcium Channel Alpha 1G Subunit 3
- Voltage-Dependent T-Type Calcium Channel Subunit Alpha-1G 3
External Ids for CACNA1G Gene
- HGNC: 1394
- Entrez Gene: 8913
- Ensembl: ENSG00000006283
- OMIM: 604065
- UniProtKB: O43497
Previous GeneCards Identifiers for CACNA1G Gene
- GC17P048351
- GC17P051119
- GC17P048980
- GC17P049113
- GC17P045993
- GC17P048639
- GC17P044006
Summaries for CACNA1G Gene
-
Voltage-sensitive 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, gene expression, cell motility, cell division, and cell death. This gene encodes a T-type, low-voltage activated calcium channel. The T-type channels generate currents that are both transient, owing to fast inactivation, and tiny, owing to small conductance. T-type channels are thought to be involved in pacemaker activity, low-threshold calcium spikes, neuronal oscillations and resonance, and rebound burst firing. Many alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Sep 2011]
GeneCards Summary for CACNA1G Gene
CACNA1G (Calcium Voltage-Gated Channel Subunit Alpha1 G) is a Protein Coding gene. Diseases associated with CACNA1G include Spinocerebellar Ataxia Type 42 and Colorectal Cancer, Childhood. Among its related pathways are CCR5 Pathway in Macrophages and PEDF Induced Signaling. GO annotations related to this gene include ion channel activity and scaffold protein binding. An important paralog of this gene is CACNA1H.
UniProtKB/Swiss-Prot for CACNA1G Gene
-
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 expression, cell motility, cell division and cell death. The isoform alpha-1G gives rise to T-type calcium currents. T-type calcium channels belong to the "low-voltage activated (LVA)" group and are strongly blocked by mibefradil. A particularity of this type of channel is an opening at quite negative potentials and a voltage-dependent inactivation. T-type channels serve pacemaking functions in both central neurons and cardiac nodal cells and support calcium signaling in secretory cells and vascular smooth muscle. They may also be involved in the modulation of firing patterns of neurons which is important for information processing as well as in cell growth processes.
-
Voltage-gated calcium channels (CaV) are present in the membrane of most excitable cells and mediate calcium influx in response to depolarization. They regulate intracellular processes such as contraction, secretion, neurotransmission and gene expression.
No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CACNA1G Gene
Genomics for CACNA1G Gene
Regulatory Elements for CACNA1G Gene
Enhancers for CACNA1G Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around CACNA1G on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Location for CACNA1G Gene
- Chromosome:
- 17
- Start:
- 50,561,068 bp from pter
- End:
- 50,629,625 bp from pter
- Size:
- 68,558 bases
- Orientation:
- Plus strand
Genomic View for CACNA1G Gene
Genes around CACNA1G on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 17q21.33 by Ensembl
- 17q21.33 by Entrez Gene
- 17q21.33 by HGNC
CACNA1G Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for CACNA1G Gene
Proteins for CACNA1G Gene
-
Protein details for CACNA1G Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- O43497-CAC1G_HUMAN
- Recommended name:
- Voltage-dependent T-type calcium channel subunit alpha-1G
- Protein Accession:
- O43497
- D6RA64
- E7EPR0
- O43498
- O94770
- Q19QY8
- Q19QY9
- Q19QZ0
- Q19QZ1
- Q19QZ2
- Q19QZ3
- Q19QZ4
- Q19QZ5
- Q19QZ6
- Q19QZ7
- Q19QZ8
- Q19QZ9
- Q19R00
- Q19R01
- Q19R02
- Q19R03
- Q19R04
- Q19R05
- Q19R06
- Q19R07
- Q19R08
- Q19R09
- Q19R10
- Q19R11
- Q19R12
- Q19R13
- Q19R15
- Q19R16
- Q19R17
- Q19R18
- Q2TAC4
- Q9NYU4
- Q9NYU5
- Q9NYU6
- Q9NYU7
- Q9NYU8
- Q9NYU9
- Q9NYV0
- Q9NYV1
- Q9UHN9
- Q9UHP0
- Q9ULU6
- Q9UNG7
- Q9Y5T2
- Q9Y5T3
Protein attributes for CACNA1G Gene
- Size:
- 2377 amino acids
- Molecular mass:
- 262472 Da
- Quaternary structure:
- No Data Available
Alternative splice isoforms for CACNA1G Gene
- UniProtKB/Swiss-Prot:
-
- O43497-1
- O43497-2
- O43497-3
- O43497-4
- O43497-5
- O43497-6
- O43497-7
- O43497-8
- O43497-9
- O43497-10
- O43497-11
- O43497-12
- O43497-13
- O43497-15
- O43497-16
- O43497-17
- O43497-18
- O43497-19
- O43497-20
- O43497-21
- O43497-22
- O43497-23
- O43497-24
- O43497-25
- O43497-26
- O43497-27
- O43497-28
- O43497-29
- O43497-30
- O43497-31
- O43497-32
- O43497-33
- O43497-34
- O43497-35
- O43497-36
Protein Expression for CACNA1G Gene
Post-translational modifications for CACNA1G Gene
- In response to raising of intracellular calcium, the T-type channels are activated by CaM-kinase II.
- Glycosylation at Asn173, posLast=246246, posLast=306306, posLast=310310, Asn322, posLast=14481448, posLast=14511451, and Asn1698
- Modification sites at PhosphoSitePlus
Other Protein References for CACNA1G Gene
- ENSEMBL proteins:
-
- ENSP00000339302
- ENSP00000347078
- ENSP00000350979
- ENSP00000353990
- ENSP00000392390
- ENSP00000409759
- ENSP00000414388
- ENSP00000420918
- ENSP00000421518
- ENSP00000422268
- ENSP00000422407
- ENSP00000423045
- ENSP00000423112
- ENSP00000423155
- ENSP00000423317
- ENSP00000424664
- ENSP00000425153
- ENSP00000425451
- ENSP00000425522
- ENSP00000425698
- ENSP00000426098
- ENSP00000426172
- ENSP00000426232
- ENSP00000426261
- ENSP00000426313
- ENSP00000426558
- ENSP00000426814
- ENSP00000427173
- ENSP00000427231
- ENSP00000427238
- ENSP00000427247
- ENSP00000427697
- ENSP00000459988
- ENSP00000352011
- REFSEQ proteins:
-
- NP_001243253.1
- NP_001243254.1
- NP_001243255.1
- NP_001243256.1
- NP_001243257.1
- NP_001243258.1
- NP_001243259.1
- NP_001243260.1
- NP_001243261.1
- NP_001243262.1
- NP_001243263.1
- NP_001243288.1
- NP_001243289.1
- NP_001243290.1
- NP_061496.2
- NP_938190.1
- NP_938191.2
- NP_938192.1
- NP_938193.1
- NP_938194.1
- NP_938196.1
- NP_938197.1
- NP_938198.1
- NP_938199.1
- NP_938200.1
- NP_938201.1
- NP_938202.1
- NP_938406.1
- XP_006722223.1
- XP_006722224.1
Antibody Products
- EMD Millipore Complete listing of Mono and Polychlonal Antibodies for CACNA1G
-
Custom Antibody ServicesOriGene Antibodies for CACNA1G
- Novus Biologicals Antibodies for CACNA1G
-
Abcam antibodies for CACNA1G
- Invitrogen Antibodies for CACNA1G
- antibodies-online Antibodies for CACNA1G: See all 78
- GeneTex CACNA1G antibody for CACNA1G
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for CACNA1G
- Origene Custom Protein Services for CACNA1G
- Novus Biologicals proteins for CACNA1G
- Search GeneTex for Proteins for CACNA1G
Assay Products
No data available for DME Specific Peptides for CACNA1G Gene
Domains & Families for CACNA1G Gene
Gene Families for CACNA1G Gene
- HGNC:
- IUPHAR :
Protein Domains for CACNA1G Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for CACNA1G Gene
- GenScript: Design optimal peptide antigens:
-
- Voltage-gated calcium channel subunit alpha Cav3.1 (CAC1G_HUMAN)
- T calcium channel alpha 1G subunit variant 473-d81 (Q19QY9_HUMAN)
- T calcium channel alpha 1G subunit variant 473-d75 (Q19QZ0_HUMAN)
- T calcium channel alpha 1G subunit variant 441-d81 (Q19QZ2_HUMAN)
- T calcium channel alpha 1G subunit variant 221 (Q19QZ8_HUMAN)
Graphical View of Domain Structure for InterPro Entry
O43497UniProtKB/Swiss-Prot:
CAC1G_HUMAN :- Each of the four internal repeats contains five hydrophobic transmembrane segments (S1, S2, S3, S5, S6) and one positively charged transmembrane segment (S4). S4 segments probably represent the voltage-sensor and are characterized by a series of positively charged amino acids at every third position.
- Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1G subfamily.
- Domain:
-
- Each of the four internal repeats contains five hydrophobic transmembrane segments (S1, S2, S3, S5, S6) and one positively charged transmembrane segment (S4). S4 segments probably represent the voltage-sensor and are characterized by a series of positively charged amino acids at every third position.
- The linker region between repeat III and IV probably plays a role in the inactivation of the channel. The C-terminal part may be implicated in the anchoring of the protein to the membrane by interfering with or restricting its lateral diffusion.
- Family:
-
- Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1G subfamily.
Function for CACNA1G Gene
Molecular function for CACNA1G Gene
- GENATLAS Biochemistry:
- calcium low activated (LVA) voltage-gated channel,T (fast inactivation,small conductance) type, neuronal alpha 1G subunit,predominantly expressed in brain,aberrantly methylated and inactivated in cancer,colon,gastric carcinomas and in leukemia
- UniProtKB/Swiss-Prot 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 expression, cell motility, cell division and cell death. The isoform alpha-1G gives rise to T-type calcium currents. T-type calcium channels belong to the "low-voltage activated (LVA)" group and are strongly blocked by mibefradil. A particularity of this type of channel is an opening at quite negative potentials and a voltage-dependent inactivation. T-type channels serve pacemaking functions in both central neurons and cardiac nodal cells and support calcium signaling in secretory cells and vascular smooth muscle. They may also be involved in the modulation of firing patterns of neurons which is important for information processing as well as in cell growth processes.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005216 | ion channel activity | IEA | -- |
| GO:0005244 | voltage-gated ion channel activity | IEA | -- |
| GO:0005245 | voltage-gated calcium channel activity | IEA | -- |
| GO:0005248 | voltage-gated sodium channel activity | IBA | -- |
| GO:0005262 | calcium channel activity | IEA | -- |
Phenotypes for CACNA1G Gene
- MGI mutant phenotypes for CACNA1G:
- inferred from 6 alleles
- GenomeRNAi human phenotypes for CACNA1G:
-
- Increased viability
- Increased gamma-H2AX phosphorylation
- Decreased viability
- Mildly decreased CFP-tsO45G cell surface transport
- Resistant to vaccinia virus (VACV-A4L) infection
- Increased transferrin (TF) endocytosis
- Synthetic lethal with c-Myc after tamoxifen stimulation
- Decreased IL-8 secretion
- Decreased DCP1a protein expression and assembly in processing bodies after arsenite stimulation
Animal Models for CACNA1G Gene
Animal Model Products
-
Taconic Biosciences Mouse Models for CACNA1G
- Cyagen custom Knockout/knockin (KOKI) mouse models for CACNA1G
-
- Search ViGene Biosciences for CACNA1G
CRISPR Products
-
OriGene CRISPR knockouts for CACNA1G
-
Santa Cruz Biotechnology (SCBT) CRISPR for CACNA1G
- GenScript: Design CRISPR guide RNA sequences for CACNA1G
miRNA for CACNA1G Gene
- miRTarBase miRNAs that target CACNA1G
miRNA Products
- Search ViGene Biosciences for CACNA1G
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for CACNA1G
- Browse OriGene Inhibitory RNA Products For CACNA1G
Clone Products
-
OriGene ORF clones in human for CACNA1G
- RC235375
- RG235375
- RC214754
- RC214754L1
- RG214754
- RC219493
- RG219493
- RC213618
- RG213618
- RC219537
- RG219537
- RC213708
- RG213708
- RC213761
- RG213761
- RC210702
- RG210702
- RC219643
- RG219643
- RC213919
- RG213919
- RC219695
- RG219695
- RC219751
- RG219751
- RC214094
- RG214094
- RC219811
- RG219811
- RC214209
- RG214209
- RC235386
- RG235386
- RC235384
- RG235384
- RC235382
- RG235382
- RC235381
- RG235381
- RC235380
- RG235380
- RC235377
- RG235377
- RC235373
- RG235373
- RC235371
- RG235371
- RC235370
- RG235370
- RC235368
- RG235368
- RC235367
- RG235367
- RC235379
- RG235379
- RC235376
- RG235376
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
-
GenScript: Next-day shipping cDNA ORF clone for CACNA1G in any vector
- XM_006722160
- XM_006722161
- NM_198383
- NM_198384
- NM_198385
- NM_198386
- NM_198387
- NM_198388
- NM_198377
- NM_018896
- NM_198376
- NM_198378
- NM_198379
- NM_198380
- NM_001256361
- NM_001256360
- NM_001256359
- NM_198396
- NM_001256334
- NM_001256333
- NM_001256332
- NM_001256331
- NM_001256330
- NM_001256329
- NM_001256328
- NM_001256327
- NM_001256326
- NM_001256325
- NM_001256324
- NM_198382
- XM_011525440
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for CACNA1G
- VectorBuilder custom plasmid, inducible vectors for CACNA1G
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CACNA1G
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for CACNA1G
Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CACNA1G Gene
Localization for CACNA1G Gene
Subcellular locations from UniProtKB/Swiss-Prot for CACNA1G Gene
- Cell membrane; Multi-pass membrane protein. Cytoplasm.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| nucleus | 3 |
| cytosol | 2 |
| extracellular | 1 |
| endoplasmic reticulum | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA,IDA | 26715324 |
| GO:0005886 | plasma membrane | IEA,IDA | 26715324 |
| GO:0005891 | voltage-gated calcium channel complex | TAS,ISS | -- |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
Pathways & Interactions for CACNA1G Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | TCR Signaling (Qiagen) |
.68
|
.39
|
| 2 | DREAM Repression and Dynorphin Expression |
.44
|
.36
|
| 3 | Sweet Taste Signaling |
.37
|
|
| 4 | Activation of cAMP-Dependent PKA |
.77
|
.56
|
| 5 | CCR5 Pathway in Macrophages | ||
Pathways by source for CACNA1G Gene
2 BioSystems pathways for CACNA1G Gene
4 Reactome pathways for CACNA1G Gene
3 PharmGKB pathways for CACNA1G Gene
5 KEGG pathways for CACNA1G Gene
1 GeneGo (Thomson Reuters) pathway for CACNA1G Gene
37 Qiagen pathways for CACNA1G Gene
Interacting Proteins for CACNA1G Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0002027 | regulation of heart rate | IEA | -- |
| GO:0006810 | transport | IEA | -- |
| GO:0006811 | ion transport | IEA | -- |
| GO:0006816 | calcium ion transport | IEA | -- |
| GO:0007268 | chemical synaptic transmission | IEA | -- |
No data available for SIGNOR curated interactions for CACNA1G Gene
Drugs & Compounds for CACNA1G Gene
(22) Drugs for CACNA1G Gene - From: DrugBank, ApexBio, DGIdb, FDA Approved Drugs, IUPHAR, HMDB, Tocris, and Novoseek
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Zonisamide | Approved, Investigational | Pharma | blocker, Target, inhibitor | Antiepileptic with anticonvulsant and mechanistic effect | 68 | |
| Ethosuximide | Approved | Pharma | blocker, Target, inhibitor | 9 | ||
| Flunarizine | Approved | Pharma | blocker, Target, inhibitor | 5 | ||
| Trimethadione | Approved | Pharma | blocker, Target, inhibitor | 0 | ||
| Verapamil | Approved | Pharma | Channel blocker, blocker, Target, inhibitor | 130 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| kurtoxin |
|
Channel blocker |
|
|
||
| SB209712 |
|
Channel blocker |
|
|
||
| O-Desmethylverapamil (D-702) |
|
|
||||
| (+-)-Bay K 8644 |
|
71145-03-4 |
|
|
||
| omega-agatoxin IVA |
|
Channel blocker | 145017-83-0 |
|
|
(5) Tocris Compounds for CACNA1G Gene
| Compound | Action | Cas Number |
|---|---|---|
| (+-)-Bay K 8644 | Ca2+ channel activator (L-type) | 71145-03-4 |
| Mibefradil dihydrochloride | Ca2+ channel blocker (T-type) | 116666-63-8 |
| omega-Agatoxin IVA | Ca2+ channel blocker (P-type) | 145017-83-0 |
| omega-Conotoxin GVIA | Ca2+ channel blocker (N-type) | 106375-28-4 |
| Pregabalin | Anticonvulsant; selectively binds the alpha2delta subunit of voltage-sensitive calcium channels | 148553-50-8 |
(3) ApexBio Compounds for CACNA1G Gene
| Compound | Action | Cas Number |
|---|---|---|
| Mibefradil dihydrochloride | Ca2+ channel blocker ,antihypertensive | 116666-63-8 |
| NNC 55-0396 | T-type calcium channel blocker | 357400-13-6 |
| Zonisamide | Antiepileptic with anticonvulsant and mechanistic effect | 68291-97-4 |
Drug Products
- ApexBio compounds for CACNA1G
Transcripts for CACNA1G Gene
mRNA/cDNA for CACNA1G Gene
- (31) REFSEQ mRNAs :
- (24) Additional mRNA sequences :
- (79) Selected AceView cDNA sequences:
- (34) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for CACNA1G Gene
CRISPR Products
-
OriGene CRISPR knockouts for CACNA1G
-
Santa Cruz Biotechnology (SCBT) CRISPR for CACNA1G
- GenScript: Design CRISPR guide RNA sequences for CACNA1G
miRNA Products
- Search ViGene Biosciences for CACNA1G
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for CACNA1G
- Browse OriGene Inhibitory RNA Products For CACNA1G
Clone Products
-
OriGene ORF clones in human for CACNA1G
- RC235375
- RG235375
- RC214754
- RC214754L1
- RG214754
- RC219493
- RG219493
- RC213618
- RG213618
- RC219537
- RG219537
- RC213708
- RG213708
- RC213761
- RG213761
- RC210702
- RG210702
- RC219643
- RG219643
- RC213919
- RG213919
- RC219695
- RG219695
- RC219751
- RG219751
- RC214094
- RG214094
- RC219811
- RG219811
- RC214209
- RG214209
- RC235386
- RG235386
- RC235384
- RG235384
- RC235382
- RG235382
- RC235381
- RG235381
- RC235380
- RG235380
- RC235377
- RG235377
- RC235373
- RG235373
- RC235371
- RG235371
- RC235370
- RG235370
- RC235368
- RG235368
- RC235367
- RG235367
- RC235379
- RG235379
- RC235376
- RG235376
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
-
GenScript: Next-day shipping cDNA ORF clone for CACNA1G in any vector
- XM_006722160
- XM_006722161
- NM_198383
- NM_198384
- NM_198385
- NM_198386
- NM_198387
- NM_198388
- NM_198377
- NM_018896
- NM_198376
- NM_198378
- NM_198379
- NM_198380
- NM_001256361
- NM_001256360
- NM_001256359
- NM_198396
- NM_001256334
- NM_001256333
- NM_001256332
- NM_001256331
- NM_001256330
- NM_001256329
- NM_001256328
- NM_001256327
- NM_001256326
- NM_001256325
- NM_001256324
- NM_198382
- XM_011525440
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for CACNA1G
- VectorBuilder custom plasmid, inducible vectors for CACNA1G
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CACNA1G
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17a | · | 17b | ^ | 18a | · | 18b | ^ | 19a | · | 19b | · | 19c | ^ | 20 | ^ | 21 | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: |
| ExUns: | 22 | ^ | 23 | ^ | 24a | · | 24b | ^ | 25 | ^ | 26 | ^ | 27 | ^ | 28 | ^ | 29 | ^ | 30 | ^ | 31a | · | 31b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||||||||||
| SP2: | |||||||||||||||||||||||
| SP3: | |||||||||||||||||||||||
| SP4: | |||||||||||||||||||||||
| SP5: | |||||||||||||||||||||||
| SP6: |
Expression for CACNA1G Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
-
Hair (Integumentary System)
- Zigzag Dermal Papilla Cells Dermal Papilla
- Guard Dermal Papilla Cells Dermal Papilla
-
Dermis (Integumentary System)
- Zigzag Dermal Papilla Cells Dermal Papilla
- Guard Dermal Papilla Cells Dermal Papilla
-
Blood (Hematopoietic System)
- Proerythroblasts Hematopoietic Bone Marrow
-
Head Mesenchyme (Muscoskeletal System)
- Dental Mesenchymal Cells Branchial Arch 1
-
Tooth
- Dental Mesenchymal Cells Branchial Arch 1
- Bone (Muscoskeletal System)
-
Pancreas (Endocrine System)
mRNA differential expression in normal tissues according to GTEx for CACNA1G Gene
This gene is overexpressed in Brain - Cerebellum (x8.2) and Brain - Cortex (x5.5).
This gene is overexpressed in Bone (21.7), Stomach (19.5), Neutrophil (15.8), and Peripheral blood mononuclear cells (6.3).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CACNA1G Gene
NURSA nuclear receptor signaling pathways regulating expression of CACNA1G Gene:
CACNA1GSOURCE GeneReport for Unigene cluster for CACNA1G Gene:
Hs.591169mRNA Expression by UniProt/SwissProt for CACNA1G Gene:
O43497-CAC1G_HUMAN
Tissue specificity:
Highly expressed in brain, in particular in the amygdala, subthalamic nuclei, cerebellum and thalamus. Moderate expression in heart; low expression in placenta, kidney and lung. Also expressed in colon and bone marrow and in tumoral cells to a lesser extent. Highly expressed in fetal brain, but also in peripheral fetal tissues as heart, kidney and lung, suggesting a developmentally regulated expression.
Evidence on tissue expression from TISSUES for CACNA1G Gene
- Nervous system(4.5)
- Intestine(2)
Primer Products
-
OriGene qPCR primer pairs for CACNA1G
No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CACNA1G Gene
Orthologs for CACNA1G Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | CACNA1G 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | CACNA1G 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | CACNA1G 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Cacna1g 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Cacna1g 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | CACNA1G 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | CACNA1G 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | CACNA1G 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | CACNA1G 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | cacna1g 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | cacna1g 34 35 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | Ca-alpha1T 36 |
|
|
|
| worm (Caenorhabditis elegans) |
Secernentea | cca-1 36 35 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 35 |
|
ManyToMany |
- Species where no ortholog for CACNA1G was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Paralogs for CACNA1G Gene
Paralogs for CACNA1G Gene
(8) SIMAP similar genes for CACNA1G Gene using alignment to 3 proteins:
Variants for CACNA1G Gene
| SNP ID | Clin | Chr 17 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| VAR_076292 | Spinocerebellar ataxia 42 (SCA42) [MIM:616795] | ||||
| rs755221106 | Pathogenic | 50,617,560(+) | GCTGC(A/G/T)CATTG | nc-transcript-variant, reference, missense | |
| rs886041505 | Pathogenic | 50,592,063(+) | TGGTC(A/G)CCATT | nc-transcript-variant, reference, missense | |
| rs730882202 | Likely pathogenic | 50,571,958(+) | TCTTC(-/TTC)ATCTT | nc-transcript-variant, cds-indel | |
| rs786205629 | Likely pathogenic | 50,571,953(+) | CTTCG(-/TCT)TCTTC | nc-transcript-variant, cds-indel |
Residual Variation Intolerance Score:
1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
3.64;
56.72% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for CACNA1G Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CACNA1G Gene
Disorders for CACNA1G Gene
(6) MalaCards diseases for CACNA1G Gene - From: ClinVar, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| spinocerebellar ataxia type 42 |
|
|
| colorectal cancer, childhood |
|
|
| central pain syndrome |
|
|
| childhood absence epilepsy |
|
|
| osteogenesis imperfecta, type i |
|
|
Search CACNA1G in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
CAC1G_HUMAN- Spinocerebellar ataxia 42 (SCA42) [MIM:616795]: A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA42 is a slowly progressive, autosomal dominant form with variable severity. {ECO:0000269 PubMed:26456284, ECO:0000269 PubMed:26715324}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Relevant External Links for CACNA1G
No data available for Genatlas for CACNA1G Gene
Publications for CACNA1G Gene
- Mutational analysis of CACNA1G in idiopathic generalized epilepsy. Mutation in brief #962. Online. (PMID: 17397049) Singh B. … Yamakawa K. (Hum. Mutat. 2007) 3 22 46 64
- Molecular cloning and functional expression of ca(v)3.1c, a T-type calcium channel from human brain. (PMID: 10648811) Cribbs L.L. … Perez-Reyes E. (FEBS Lett. 2000) 3 4 22 64
- Molecular and functional properties of the human alpha1G subunit that forms T-type calcium channels. (PMID: 10692398) Monteil A. … Nargeot J. (J. Biol. Chem. 2000) 3 4 22 64
- Inactivation of CACNA1G, a T-type calcium channel gene, by aberrant methylation of its 5' CpG island in human tumors. (PMID: 10493502) Toyota M. … Issa J.-P.J. (Cancer Res. 1999) 3 4 22 64
- Structure and alternative splicing of the gene encoding alpha1G, a human brain T calcium channel alpha1 subunit. (PMID: 10548410) Mittman S. … Agnew W.S. (Neurosci. Lett. 1999) 3 4 22 64
Products for CACNA1G Gene
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
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- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for CACNA1G Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
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- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
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- (100) COMPARTMENTS
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