| Gene Information | |
|---|---|
| Gene Name | CACNA1H |
| Organism | Homo sapiens (Human) |
| Gene Length | 2353 |
| Protein Names | 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) |
| Target Name | voltage-dependent calcium channel |
| Target Type | NA |
| Gene Age | 645 ( ENSG00000196557 ) |
| Evolutionary Stage | Eukaryota |
| AlphaFoldDB | O95180 |
| Gene Card | CACNA1H |
| Uniprot ID | O95180 |
| Pfam | PF00520 |
| In ASD | yes |
| Allosteric Prediction | yes (1.115022749) |
| Ortholog in Animals | Alpaca_ CACNA1H ( ortholog_one2one ) Dog_ CACNA1H ( ortholog_one2one ) GuineaPig_ CACNA1H ( ortholog_one2one ) Macaque_ CACNA1H ( ortholog_one2one ) Mouse_ Cacna1h ( ortholog_one2one ) Pig_ CACNA1H ( ortholog_one2one ) Rat_ Cacna1h ( ortholog_one2one ) |
| Ohnologs | CACNA1G |
| Paralogs | SCN11A, CACNA1C, CATSPER1, CACNA1E, CACNA1I, SCN9A, CACNA1B, SCN7A, SCN3A, SCN5A, SCN2A, SCN1A, CACNA1A, CACNA1F, CATSPER2, CACNA1G, SCN8A, NALCN, CACNA1D, CATSPER4, SCN10A, CACNA1S, CATSPER3, TPCN1, TPCN2, SCN4A |
| Tissue | NA |
| Tissue Specificity | Expressed in the adrenal glomerulosa (at protein level) (PubMed:25907736, PubMed:27729216). 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:9670923, PubMed:9930755). In the heart, expressed in blood vessels. {ECO:0000269|PubMed:25907736, ECO:0000269|PubMed:27729216, ECO:0000269|PubMed:9670923, ECO:0000269|PubMed:9930755}.; [Isoform 1]: Expressed in testis, primarily in the germ cells, but not in other portions of the reproductive tract, such as ductus deferens (PubMed:11751928). Expressed in the brain (PubMed:11751928). {ECO:0000269|PubMed:11751928}.; [Isoform 2]: Expressed in testis, primarily in the germ cells, but not in other portions of the reproductive tract, such as ductus deferens (PubMed:11751928). Not expressed in the brain (PubMed:11751928). {ECO:0000269|PubMed:11751928}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
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| Gene Ontology (cellular component) |
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| Gene Ontology (molecular function) |
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| PDB | NA |
| DBSNP | rs119454947 rs780596901 rs119454948 rs36117280 rs560915333 rs1057519554 rs60734921 rs61734410 rs1288484976 rs4984636 rs762185083 rs373764821 rs770371468 rs142306293 rs267606697 rs779526640 rs3751664 rs28365119 rs119454949 rs374272094 rs542245543 rs786205050 rs58124832 rs746967306 rs1267377730 rs3751886 rs1054644 rs1054645 rs759924732 rs200675829 |
| Subcellular location [CC] | Cell membrane {ECO:0000269|PubMed:25907736, ECO:0000269|PubMed:27149520, ECO:0000269|PubMed:27729216, ECO:0000269|PubMed:9670923, ECO:0000269|PubMed:9930755}; Multi-pass membrane protein {ECO:0000305}. Note=Interaction with STAC increases expression at the cell membrane. {ECO:0000269|PubMed:27149520}. |
| Mouse PG classification | NA |
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