Gene

ca8

ID

ZDB-GENE-050417-26

Name

carbonic anhydrase VIII

Symbol

ca8 Nomenclature History

Previous Names

CARP VIII (1)
zgc:110118 (1)

Type

protein_coding_gene

Location

Chr: 2 Mapping Details/Browsers

Description

Predicted to have carbonate dehydratase activity and zinc ion binding activity. Involved in cerebellum development; chordate embryonic development; and swimming behavior. Used to study cerebellar ataxia, mental retardation and dysequlibrium syndrome. Human ortholog(s) of this gene implicated in cerebellar ataxia, mental retardation and dysequlibrium syndrome. Is expressed in several structures, including brain; digestive system; hatching gland; hindbrain neural plate; and pleuroperitoneal region. Orthologous to human CA8 (carbonic anhydrase 8).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

19 figures from 7 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

MGC:110118 (19 images)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 6 figures from 3 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With ca8 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3	Alliance	Spinocerebellar ataxia, autosomal recessive 34	613227

Associated With ca8 Via Experimental Models

Human Disease	Fish	Conditions	Citations
cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome	AB + MO3-ca8	standard conditions	Huang et al., 2014

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Conserved_site	IPR018338	Carbonic anhydrase, alpha-class, conserved site
Domain	IPR001148	Alpha carbonic anhydrase domain
Family	IPR023561	Carbonic anhydrase, alpha-class
Family	IPR041877	Carbonic anhydrase-related protein VIII
Homologous_superfamily	IPR036398	Alpha carbonic anhydrase domain superfamily