CA8

carbonic anhydrase 8, the group of Carbonic anhydrases

Basic information

Region (hg38): 8:60185412-60281400

Previous symbols: [ "CALS" ]

Links

ENSG00000178538

∙ NCBI:767 ∙ OMIM:114815 ∙ HGNC:1382 ∙ Uniprot:P35219 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 (Definitive), mode of inheritance: AR
cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 (Strong), mode of inheritance: AR
cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 (Strong), mode of inheritance: AR
cerebellar ataxia, intellectual disability, and dysequilibrium (Supportive), mode of inheritance: AR
cerebellar ataxia (Moderate), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Spinocerebellar ataxia, autosomal recessive 34	AR	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Neurologic	19461874; 21937992

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CA8 gene.

Inborn_genetic_diseases (27 variants)
not_provided (20 variants)
Cerebellar_ataxia,_intellectual_disability,_and_dysequilibrium_syndrome_3 (10 variants)
not_specified (7 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CA8 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000004056.6. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				9 clinvar	3 clinvar	12
missense	4 clinvar	2 clinvar	23 clinvar		1 clinvar	30
nonsense	1 clinvar	1 clinvar				2
start loss						0
frameshift		1 clinvar				1
splice donor/acceptor (+/-2bp)		1 clinvar				1
Total	5	5	23	9	4

Highest pathogenic variant AF is 0.0000047884

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CA8	protein_coding	protein_coding	ENST00000317995	8	94066

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00825	0.989	125735	0	13	125748	0.0000517

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.24	115	159	0.723	0.00000809	1880
Missense in Polyphen		22	48.089	0.45748		582
Synonymous	-0.0688	63	62.3	1.01	0.00000332	554
Loss of Function	2.64	7	19.6	0.357	0.00000107	207

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000940	0.0000904
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000547	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000796	0.0000791
Middle Eastern	0.0000547	0.0000544
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: Does not have a carbonic anhydrase catalytic activity.;
Disease: DISEASE: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 (CMARQ3) [MIM:613227]: A congenital cerebellar ataxia associated with dysarthia, quadrupedal gait and mental retardation. {ECO:0000269|PubMed:19461874}. Note=The disease is caused by mutations affecting the gene represented in this entry.;
Pathway: Nitrogen metabolism - Homo sapiens (human) (Consensus)

Recessive Scores

pRec: 0.136

Intolerance Scores

loftool: 0.514
rvis_EVS: -0.01
rvis_percentile_EVS: 53.19

Haploinsufficiency Scores

pHI: 0.435
hipred: Y
hipred_score: 0.783
ghis: 0.528

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.910

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

Gene name: Car8
Phenotype: nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); hearing/vestibular/ear phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan);

Zebrafish Information Network

Gene name: ca8
Affected structure: neuron
Phenotype tag: abnormal
Phenotype quality: apoptotic

Gene ontology

Biological process: phosphatidylinositol-mediated signaling
Cellular component: cytoplasm
Molecular function: carbonate dehydratase activity;protein binding;zinc ion binding