CA8

Protein identityUniProt · HPA

UniProt accession

P35219

Gene

CA8

Ensembl

ENSG00000178538

Chromosome

8

Canonical length

290 aa

Protein class

Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins

OverviewNCBI Gene

The protein encoded by this gene was initially named CA-related protein because of sequence similarity to other known carbonic anhydrase genes. However, the gene product lacks carbonic anhydrase activity (i.e., the reversible hydration of carbon dioxide). The gene product continues to carry a carbonic anhydrase designation based on clear sequence identity to other members of the carbonic anhydrase gene family. The absence of CA8 gene transcription in the cerebellum of the lurcher mutant in mice with a neurologic defect suggests an important role for this acatalytic form. Mutations in this gene are associated with cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 (CMARQ3). Polymorphisms in this gene are associated with osteoporosis, and overexpression of this gene in osteosarcoma cells suggests an oncogenic role. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]

Canonical amino-acid sequenceUniProt

290 residues, UniProt reviewed canonical sequence.

>P35219|CA8
     1  MADLSFIEDT VAFPEKEEDE EEEEEGVEWG YEEGVEWGLV FPDANGEYQS PINLNSREAR
    61  YDPSLLDVRL SPNYVVCRDC EVTNDGHTIQ VILKSKSVLS GGPLPQGHEF ELYEVRFHWG
   121  RENQRGSEHT VNFKAFPMEL HLIHWNSTLF GSIDEAVGKP HGIAIIALFV QIGKEHVGLK
   181  AVTEILQDIQ YKGKSKTIPC FNPNTLLPDP LLRDYWVYEG SLTIPPCSEG VTWILFRYPL
   241  TISQLQIEEF RRLRTHVKGA ELVEGCDGIL GDNFRPTQPL SDRVIRAAFQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CA8 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

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.29

Highest tissue expression

38 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CA8.

Disease | AllUniProt

Conditions CA8 is implicated in, by any mechanism.

• Spinocerebellar ataxia, autosomal recessive, 34 (SCAR34) MIM:613227

Disease | GeneticClinVar

10 pathogenic / likely-pathogenic of 99 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3

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)

0.67

gnomAD pLI

0.01

gnomAD missense Z

1.24

DepMap mean gene effect

-0.07

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

• positive regulation of calcium-mediated signaling

Molecular functions

• carbonate dehydratase activity
• zinc ion binding

Cellular components

• cytoplasm

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
• Carbonic anhydrase-related protein VIII

KeywordsUniProt

• Intellectual disability
• Metal-binding
• Phosphoprotein
• Zinc