Genes

Explore the normal functions of human genes and the health implications of genetic changes.

  1. A
  2. B
  3. C
  4. D
  5. E
  6. F
  7. G
  8. H
  9. I
  10. J
  11. K
  12. L
  13. M
  14. N
  15. O
  16. P
  17. Q
  18. R
  19. S
  20. T
  21. U
  22. V
  23. W
  24. X
  25. Y
  26. Z
  • C2: complement C2
  • C3: complement C3
  • C8A: complement C8 alpha chain
  • C8B: complement C8 beta chain
  • C9orf72: chromosome 9 open reading frame 72
  • C19orf12: chromosome 19 open reading frame 12
  • CA5A: carbonic anhydrase 5A
  • CA12: carbonic anhydrase 12
  • CACNA1A: calcium voltage-gated channel subunit alpha1 A
  • CACNA1C: calcium voltage-gated channel subunit alpha1 C
  • CACNA1D: calcium voltage-gated channel subunit alpha1 D
  • CACNA1F: calcium voltage-gated channel subunit alpha1 F
  • CACNA1S: calcium voltage-gated channel subunit alpha1 S
  • CACNB4: calcium voltage-gated channel auxiliary subunit beta 4
  • CALR: calreticulin
  • CAPN3: calpain 3
  • CARD9: caspase recruitment domain family member 9
  • CARD11: caspase recruitment domain family member 11
  • CARD14: caspase recruitment domain family member 14
  • CASK: calcium/calmodulin dependent serine protein kinase
  • CASQ2: calsequestrin 2
  • CASR: calcium sensing receptor
  • CAT: catalase
  • CATSPER1: cation channel sperm associated 1
  • CATSPER2: cation channel sperm associated 2
  • CAV1: caveolin 1
  • CAV3: caveolin 3
  • CAVIN1: caveolae associated protein 1
  • CBFB: core-binding factor beta subunit
  • CBS: cystathionine-beta-synthase
  • CCBE1: collagen and calcium binding EGF domains 1
  • CCM2: CCM2 scaffolding protein
  • CCND2: cyclin D2
  • CD40LG: CD40 ligand
  • CDAN1: codanin 1
  • CDC6: cell division cycle 6
  • CDC73: cell division cycle 73
  • CDH1: cadherin 1
  • CDH23: cadherin related 23
  • CDKL5: cyclin dependent kinase like 5
  • CDKN1B: cyclin dependent kinase inhibitor 1B
  • CDKN1C: cyclin dependent kinase inhibitor 1C
  • CDKN2A: cyclin dependent kinase inhibitor 2A
  • CDT1: chromatin licensing and DNA replication factor 1
  • CEBPA: CCAAT/enhancer binding protein alpha
  • CEP57: centrosomal protein 57
  • CEP290: centrosomal protein 290
  • CFH: complement factor H
  • CFHR5: complement factor H related 5
  • CFI: complement factor I
  • CFTR: cystic fibrosis transmembrane conductance regulator
  • CHAT: choline O-acetyltransferase
  • CHD2: chromodomain helicase DNA binding protein 2
  • CHD7: chromodomain helicase DNA binding protein 7
  • CHD8: chromodomain helicase DNA binding protein 8
  • CHEK2: checkpoint kinase 2
  • CHM: CHM, Rab escort protein 1
  • CHMP2B: charged multivesicular body protein 2B
  • CHN1: chimerin 1
  • CHRNA2: cholinergic receptor nicotinic alpha 2 subunit
  • CHRNA4: cholinergic receptor nicotinic alpha 4 subunit
  • CHRNB2: cholinergic receptor nicotinic beta 2 subunit
  • CHRNE: cholinergic receptor nicotinic epsilon subunit
  • CHRNG: cholinergic receptor nicotinic gamma subunit
  • CHST3: carbohydrate sulfotransferase 3
  • CIITA: class II major histocompatibility complex transactivator
  • CISD2: CDGSH iron sulfur domain 2
  • CLCF1: cardiotrophin like cytokine factor 1
  • CLCN1: chloride voltage-gated channel 1
  • CLCN5: chloride voltage-gated channel 5
  • CLCN7: chloride voltage-gated channel 7
  • CLCNKA: chloride voltage-gated channel Ka
  • CLCNKB: chloride voltage-gated channel Kb
  • CLIP2: CAP-Gly domain containing linker protein 2
  • CLN3: CLN3, battenin
  • CLN5: CLN5, intracellular trafficking protein
  • CLN6: CLN6, transmembrane ER protein
  • CLN8: CLN8, transmembrane ER and ERGIC protein
  • CLPB: ClpB homolog, mitochondrial AAA ATPase chaperonin
  • CLPP: caseinolytic mitochondrial matrix peptidase proteolytic subunit
  • CLRN1: clarin 1
  • CNBP: CCHC-type zinc finger nucleic acid binding protein
  • CNGA3: cyclic nucleotide gated channel alpha 3
  • CNGB3: cyclic nucleotide gated channel beta 3
  • COG5: component of oligomeric golgi complex 5
  • COL1A1: collagen type I alpha 1 chain
  • COL1A2: collagen type I alpha 2 chain
  • COL2A1: collagen type II alpha 1 chain
  • COL3A1: collagen type III alpha 1 chain
  • COL4A1: collagen type IV alpha 1 chain
  • COL4A3: collagen type IV alpha 3 chain
  • COL4A4: collagen type IV alpha 4 chain
  • COL4A5: collagen type IV alpha 5 chain
  • COL5A1: collagen type V alpha 1 chain
  • COL5A2: collagen type V alpha 2 chain
  • COL6A1: collagen type VI alpha 1 chain
  • COL6A2: collagen type VI alpha 2 chain
  • COL6A3: collagen type VI alpha 3 chain
  • COL7A1: collagen type VII alpha 1 chain
  • COL8A2: collagen type VIII alpha 2 chain
  • COL9A1: collagen type IX alpha 1 chain
  • COL9A2: collagen type IX alpha 2 chain
  • COL9A3: collagen type IX alpha 3 chain
  • COL11A1: collagen type XI alpha 1 chain
  • COL11A2: collagen type XI alpha 2 chain
  • COL17A1: collagen type XVII alpha 1 chain
  • COL18A1: collagen type XVIII alpha 1 chain
  • COLEC11: collectin subfamily member 11
  • COLQ: collagen like tail subunit of asymmetric acetylcholinesterase
  • COMP: cartilage oligomeric matrix protein
  • COMT: catechol-O-methyltransferase
  • COQ2: coenzyme Q2, polyprenyltransferase
  • COQ4: coenzyme Q4
  • COQ6: coenzyme Q6, monooxygenase
  • COQ8A: coenzyme Q8A
  • COQ8B: coenzyme Q8B
  • CP: ceruloplasmin
  • CPOX: coproporphyrinogen oxidase
  • CPS1: carbamoyl-phosphate synthase 1
  • CPT1A: carnitine palmitoyltransferase 1A
  • CPT2: carnitine palmitoyltransferase 2
  • CRB1: crumbs 1, cell polarity complex component
  • CREBBP: CREB binding protein
  • CRLF1: cytokine receptor like factor 1
  • CRTAP: cartilage associated protein
  • CRX: cone-rod homeobox
  • CSF1R: colony stimulating factor 1 receptor
  • CST3: cystatin C
  • CSTB: cystatin B
  • CTC1: CST telomere replication complex component 1
  • CTDP1: CTD phosphatase subunit 1
  • CTNNB1: catenin beta 1
  • CTNND1: catenin delta 1
  • CTNND2: catenin delta 2
  • CTNS: cystinosin, lysosomal cystine transporter
  • CTSA: cathepsin A
  • CTSD: cathepsin D
  • CUBN: cubilin
  • CUL3: cullin 3
  • CUL7: cullin 7
  • CXCR4: C-X-C motif chemokine receptor 4
  • CYB5R3: cytochrome b5 reductase 3
  • CYBA: cytochrome b-245 alpha chain
  • CYBB: cytochrome b-245 beta chain
  • CYLD: CYLD lysine 63 deubiquitinase
  • CYP1B1: cytochrome P450 family 1 subfamily B member 1
  • CYP2C9: cytochrome P450 family 2 subfamily C member 9
  • CYP2C19: cytochrome P450 family 2 subfamily C member 19
  • CYP4V2: cytochrome P450 family 4 subfamily V member 2
  • CYP7B1: cytochrome P450 family 7 subfamily B member 1
  • CYP11B1: cytochrome P450 family 11 subfamily B member 1
  • CYP11B2: cytochrome P450 family 11 subfamily B member 2
  • CYP17A1: cytochrome P450 family 17 subfamily A member 1
  • CYP19A1: cytochrome P450 family 19 subfamily A member 1
  • CYP21A2: cytochrome P450 family 21 subfamily A member 2
  • CYP27A1: cytochrome P450 family 27 subfamily A member 1
  • CYP27B1: cytochrome P450 family 27 subfamily B member 1