CA12

Protein identityUniProt · HPA

UniProt accession

O43570

Gene

CA12

Ensembl

ENSG00000074410

Chromosome

15

Canonical length

354 aa

Protein class

Disease related genes, Enzymes, FDA approved drug targets, Human disease related genes, Metabolic proteins, Predicted membrane proteins

Quaternary structure

Homodimer

OverviewNCBI 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, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. This gene product is a type I membrane protein that is highly expressed in normal tissues, such as kidney, colon and pancreas, and has been found to be overexpressed in 10% of clear cell renal carcinomas. Three transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2014]

Canonical amino-acid sequenceUniProt

354 residues, UniProt reviewed canonical sequence.

>O43570|CA12
     1  MPRRSLHAAA VLLLVILKEQ PSSPAPVNGS KWTYFGPDGE NSWSKKYPSC GGLLQSPIDL
    61  HSDILQYDAS LTPLEFQGYN LSANKQFLLT NNGHSVKLNL PSDMHIQGLQ SRYSATQLHL
   121  HWGNPNDPHG SEHTVSGQHF AAELHIVHYN SDLYPDASTA SNKSEGLAVL AVLIEMGSFN
   181  PSYDKIFSHL QHVKYKGQEA FVPGFNIEEL LPERTAEYYR YRGSLTTPPC NPTVLWTVFR
   241  NPVQISQEQL LALETALYCT HMDDPSPREM INNFRQVQKF DERLVYTSFS QVQVCTAAGL
   301  SLGIILSLAL AGILGICIVV VVSIWLFRRK SIKKGDNKGV IYKPATKMET EAHA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CA12 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

1

Mean surface accessibility (rSASA)

0.34

Highest tissue expression

271 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CA12.

Disease | AllUniProt

Conditions CA12 is implicated in, by any mechanism.

• Hyperchlorhidrosis, isolated (HYCHL) MIM:143860

Disease | GeneticClinVar

5 pathogenic / likely-pathogenic of 128 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Isolated hyperchlorhidrosis

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.33

gnomAD pLI

0

gnomAD missense Z

-0.18

DepMap mean gene effect

-0.08

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• chloride ion homeostasis
• estrous cycle

Molecular functions

• carbonate dehydratase activity
• zinc ion binding

Cellular components

• apical plasma membrane
• basolateral plasma membrane
• membrane
• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• Alpha carbonic anhydrase domain
• Carbonic anhydrase, alpha-class, conserved site
• Carbonic anhydrase, alpha-class
• Alpha carbonic anhydrase domain superfamily
• Eukaryotic-type carbonic anhydrase

KeywordsUniProt

• Cell membrane
• Disulfide bond
• Glycoprotein
• Lyase
• Membrane
• Metal-binding
• Signal
• Transmembrane
• Transmembrane helix
• Zinc