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Gene

CACNA1F

calcium voltage-gated channel subunit alpha1 F

Summary

Cytogenetic location
Xp11.23
Coordinates
Chromosome X: 49,205,063–49,233,340 (GRCh38)
Exons
48 exons across 28.3 kb
Protein
1,966 amino acids
Also known as
Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2
Previous symbols
CSNB2, AIED
MANE Select transcript
ENST00000323022.10NM_001256789.3
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Congenital Stationary Night Blindness

    • A group of mostly non-progressive retinal conditions, including Oguchi disease, caused by changes in genes such as NYX, CACNA1F, TRPM1, GRM6, GPR179 and SAG, often with nystagmus or short-sightedness.

      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      A genetic diagnosis explains the symptoms, helps distinguish the condition from progressive retinal diseases and informs family counselling.

How CACNA1F is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome X, with a bracket where CACNA1F sits. CACNA1F and 40 genes near it on chromosome X, from 48,719,202 to 49,719,201.Chromosome XXp11.23p22.33p22.32p22.31p22.2p22.13p22.12p22.11p21.3p21.2p21.1p11.4p11.3p11.23p11.22p11.21p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q23q24q25q26.1q26.2q26.3q27.1q27.2q27.3q2848.8 Mb49 Mb49.2 Mb49.4 Mb49.6 MbGLOD5: 48,761,744–48,773,648, forward strandGLOD5GATA1: 48,783,122–48,794,311, forward strandGATA1HDAC6: 48,801,372–48,824,986, forward strandHDAC6ERAS: 48,826,513–48,830,138, forward strandERASPCSK1N: 48,831,088–48,835,632, reverse strandPCSK1NTIMM17B: 48,880,274–48,898,143, reverse strandPQBP1: 48,890,197–48,903,640, forward strandPQBP1SLC35A2: 48,903,180–48,911,958, reverse strandSLC35A2PIM2: 48,913,172–48,919,546, reverse strandPIM2OTUD5: 48,922,024–48,958,390, reverse strandOTUD5KCND1: 48,960,982–48,971,916, reverse strandKCND1GRIPAP1: 48,973,719–49,002,265, reverse strandGRIPAP1TFE3: 49,028,726–49,043,512, reverse strandTFE3CCDC120: 49,053,463–49,073,357, forward strandCCDC120PRAF2: 49,070,107–49,074,022, reverse strandPRAF2: 49,071,470–49,079,887, reverse strandWDR45: 49,074,431–49,101,203, reverse strandWDR45GPKOW: 49,112,941–49,123,750, reverse strandGPKOWMAGIX: 49,162,564–49,169,931, forward strandPLP2: 49,171,787–49,175,387, forward strandPLP2PRICKLE3: 49,174,802–49,186,528, reverse strandPRICKLE3SYP: 49,187,807–49,200,218, reverse strandSYPCACNA1F: 49,205,063–49,233,340, reverse strandCACNA1FCCDC22: 49,235,444–49,250,526, forward strandCCDC22FOXP3: 49,250,436–49,264,800, reverse strandFOXP3: 49,258,343–49,270,477, reverse strandPPP1R3F: 49,269,771–49,301,468, forward strandGAGE10: 49,303,645–49,319,844, forward strandGAGE10GAGE12J: 49,322,037–49,329,387, forward strandGAGE12JGAGE13: 49,331,575–49,338,952, forward strandGAGE13GAGE2E: 49,341,192–49,345,922, forward strandGAGE2EGAGE12B: 49,529,869–49,529,985, forward strandGAGE12BGAGE12C: 49,532,177–49,539,541, forward strandGAGE12CGAGE12D: 49,541,733–49,549,097, forward strandGAGE12DGAGE12E: 49,551,289–49,558,645, forward strandGAGE12EGAGE12F: 49,560,842–49,568,209, forward strandGAGE12G: 49,570,400–49,577,757, forward strandGAGE12H: 49,579,945–49,587,304, forward strandGAGE2A: 49,589,476–49,596,834, forward strandGAGE1: 49,599,020–49,608,538, forward strandGAGE1PAGE1: 49,687,445–49,696,024, reverse strandPAGE1Diagram of CACNA1F: 48 exons on the reverse strand of chromosome XExon 46: 1 known disease-causing siteExon 39: 1 known disease-causing siteExon 38: 1 known disease-causing siteExon 36: 2 known disease-causing sitesExon 35: 2 known disease-causing sitesExon 33: 1 known disease-causing siteExon 29: 3 known disease-causing sitesExon 27: 1 known disease-causing siteExon 25: 2 known disease-causing sitesExon 24: 1 known disease-causing siteExon 20: 1 known disease-causing siteExon 14: 2 known disease-causing sitesExon 11: 2 known disease-causing sitesExon 10: 1 known disease-causing siteExon 9: 2 known disease-causing sitesExon 8: 2 known disease-causing sitesExon 7: 3 known disease-causing sitesExon 6: 1 known disease-causing siteExon 3: 1 known disease-causing siteExon 2: 4 known disease-causing sitesExon 48: 49,205,063–49,205,367, 305 basesExon 47: 49,205,616–49,205,813, 198 basesExon 46: 49,206,511–49,206,623, 113 basesExon 45: 49,206,728–49,206,855, 128 basesExon 44: 49,207,005–49,207,112, 108 basesExon 43: 49,208,515–49,208,684, 170 basesExon 42: 49,209,262–49,209,393, 132 basesExon 41: 49,209,629–49,209,759, 131 basesExon 40: 49,209,941–49,210,042, 102 basesExon 39: 49,210,301–49,210,403, 103 basesExon 38: 49,210,590–49,210,686, 97 basesExon 37: 49,210,965–49,211,092, 128 basesExon 36: 49,211,322–49,211,481, 160 basesExon 35: 49,211,898–49,211,989, 92 basesExon 34: 49,212,243–49,212,308, 66 basesExon 33: 49,212,667–49,212,795, 129 basesExon 32: 49,212,974–49,212,994, 21 basesExon 31: 49,213,819–49,213,902, 84 basesExon 30: 49,214,159–49,214,269, 111 basesExon 29: 49,215,086–49,215,244, 159 basesExon 28: 49,215,342–49,215,543, 202 basesExon 27: 49,216,382–49,216,528, 147 basesExon 26: 49,217,755–49,217,807, 53 basesExon 25: 49,217,898–49,218,005, 108 basesExon 24: 49,218,455–49,218,542, 88 basesExon 23: 49,218,629–49,218,735, 107 basesExon 22: 49,218,882–49,218,941, 60 basesExon 21: 49,219,321–49,219,450, 130 basesExon 20: 49,219,634–49,219,790, 157 basesExon 19: 49,220,473–49,220,524, 52 basesExon 18: 49,221,035–49,221,080, 46 basesExon 17: 49,222,522–49,222,603, 82 basesExon 16: 49,222,718–49,222,838, 121 basesExon 15: 49,222,929–49,223,136, 208 basesExon 14: 49,224,761–49,224,986, 226 basesExon 13: 49,225,909–49,226,069, 161 basesExon 12: 49,226,217–49,226,243, 27 basesExon 11: 49,226,409–49,226,502, 94 basesExon 10: 49,226,610–49,226,702, 93 basesExon 9: 49,226,970–49,227,127, 158 basesExon 8: 49,228,036–49,228,139, 104 basesExon 7: 49,228,251–49,228,447, 197 basesExon 6: 49,230,220–49,230,372, 153 basesExon 5: 49,230,467–49,230,609, 143 basesExon 4: 49,230,850–49,230,989, 140 basesExon 3: 49,231,202–49,231,307, 106 basesExon 2: 49,231,678–49,231,927, 250 basesExon 1: 49,233,285–49,233,340, 56 bases484540353025201510515′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 6 kb of the gene's 28.3 kb; 5,901 of those bases code for the protein.

How a genome test reads CACNA1F

45

positions in CACNA1F where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 28.3 kb of CACNA1F, introns included, not only the 6 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). CACNA1F gene: calcium voltage-gated channel subunit alpha1 F. Retrieved 17 October 2026, from https://dantelabs.com/genes/cacna1f

Vancouver

Dante Labs. CACNA1F gene: calcium voltage-gated channel subunit alpha1 F [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/cacna1f

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