Each of the genes from Genetics Home Reference appears under one or more categories according to the features of its
gene products or the location of their effects.
This information comes from the Gene Ontology Consortium
, and changes frequently to reflect continuing research.
-
Biological process
-
Cellular component
-
Molecular function
- AAAS: achalasia, adrenocortical insufficiency, alacrimia
- ADAMTS10: ADAM metallopeptidase with thrombospondin type 1 motif, 10
- ALMS1: Alstrom syndrome 1
- BSCL2: Berardinelli-Seip congenital lipodystrophy 2 (seipin)
- CIRH1A: cirrhosis, autosomal recessive 1A (cirhin)
- COL5A2: collagen, type V, alpha 2
- FRMD7: FERM domain containing 7
- GAN: gigaxonin
- JPH3: junctophilin 3
- LEPRE1: leucine proline-enriched proteoglycan (leprecan) 1
- LFNG: LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
- MPV17: MpV17 mitochondrial inner membrane protein
- NEFH: neurofilament, heavy polypeptide
- NYX: nyctalopin
- OTOF: otoferlin
- PKP2: plakophilin 2
- PRX: periaxin
- SEPN1: selenoprotein N, 1
- SLC6A8: solute carrier family 6 (neurotransmitter transporter, creatine), member 8
- TMEM127: transmembrane protein 127
- TPM3: tropomyosin 3
-
Antioxidant activity
-
Binding
-
Catalytic activity
-
Channel regulator activity
-
Chemoattractant activity
-
Electron carrier activity
-
Enzyme regulator activity
-
Metallochaperone activity
-
Molecular transducer activity
-
Morphogen activity
-
Nucleic acid binding transcription factor activity
-
Protein binding transcription factor activity
-
Receptor activity
-
Receptor regulator activity
-
Structural molecule activity
-
Transporter activity
Source: Gene Ontology Consortium
.