Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
771 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Carbonic anhydrase 12 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
CA12 |
SynonymsGene synonyms aliases
|
CA-XII, CAXII, HsT18816, T18816 |
ChromosomeChromosome number
|
15 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
15q22.2 |
SummarySummary of gene provided in NCBI Entrez Gene.
|
Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, |
SNPsSNP information provided by dbSNP.
|
SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs148438059 |
C>T |
Pathogenic |
Splice acceptor variant |
rs267606694 |
C>T |
Pathogenic |
Coding sequence variant, missense variant, non coding transcript variant |
rs757974800 |
CA>- |
Likely-pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
rs775067652 |
G>T |
Pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
rs879253800 |
->AGGT |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
|
miRNAmiRNA information provided by mirtarbase database.
|
|
Transcription factors
|
Transcription factor |
Regulation |
Reference |
VHL |
Unknown |
9770531 |
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
Protein
|
UniProt ID |
O43570 |
Protein name |
Carbonic anhydrase 12 (EC 4.2.1.1) (Carbonate dehydratase XII) (Carbonic anhydrase XII) (CA-XII) (Tumor antigen HOM-RCC-3.1.3) |
Protein function |
Reversible hydration of carbon dioxide. |
PDB |
1JCZ
,
1JD0
,
4HT2
,
4KP5
,
4KP8
,
4Q0L
,
4QJ0
,
4QJO
,
4QJW
,
4WW8
,
5LL5
,
5LL9
,
5LLO
,
5LLP
,
5MSA
,
5MSB
,
6G5L
,
6G7A
,
6QN0
,
6QNG
,
6QNL
,
6R6Y
,
6R71
,
6RPS
,
6T5P
,
6T5Q
,
7PP9
,
7PUU
,
7PUV
,
7PUW
,
8CO3
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00194 |
Carb_anhydrase |
31 → 288 |
Eukaryotic-type carbonic anhydrase |
Domain |
|
Sequence |
|
Sequence length |
354 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
|
|
Associated diseases
|
|
Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Lung neoplasms |
Lung Neoplasms |
|
27935865 |
|