CA11

carbonic anhydrase 11, the group of Carbonic anhydrases

Basic information

Region (hg38): 19:48637946-48646187

Links

ENSG00000063180 ∙ NCBI:770 ∙ OMIM:604644 ∙ HGNC:1370 ∙ Uniprot:O75493 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CA11 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CA11 gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			17			17
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	17	0	0

Variants in CA11

This is a list of pathogenic ClinVar variants found in the CA11 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
19-48638140-A-C		not specified	Uncertain significance (Jan 26, 2023)
19-48638984-G-A		not specified	Uncertain significance (Oct 16, 2023)
19-48638993-C-T		not specified	Uncertain significance (Oct 04, 2024)
19-48639336-A-G		not specified	Uncertain significance (Oct 20, 2024)
19-48639344-C-G		not specified	Uncertain significance (Mar 16, 2024)
19-48639563-C-T		not specified	Uncertain significance (Aug 20, 2023)
19-48639576-C-T		not specified	Uncertain significance (Jun 11, 2021)
19-48639618-C-T		not specified	Uncertain significance (May 09, 2023)
19-48639620-A-G		not specified	Uncertain significance (Aug 01, 2024)
19-48639808-T-C		not specified	Uncertain significance (Aug 10, 2021)
19-48640150-G-T		not specified	Uncertain significance (Dec 04, 2024)
19-48644444-T-G		not specified	Uncertain significance (Oct 26, 2022)
19-48644486-T-C		not specified	Uncertain significance (Jun 06, 2022)
19-48644525-C-T		not specified	Uncertain significance (Apr 29, 2024)
19-48645448-C-T		not specified	Uncertain significance (Nov 10, 2024)
19-48645611-T-C		not specified	Uncertain significance (May 05, 2023)
19-48645617-G-A		not specified	Uncertain significance (Dec 10, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CA11	protein_coding	protein_coding	ENST00000084798	9	8371

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000957	0.988	125725	0	14	125739	0.0000557

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.88	121	195	0.621	0.0000119	2089
Missense in Polyphen		37	69.241	0.53437		731
Synonymous	0.725	70	78.2	0.896	0.00000464	693
Loss of Function	2.23	8	18.3	0.438	0.00000114	172

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000222	0.000214
Ashkenazi Jewish	0.0000993	0.0000992
East Asian	0.000164	0.000163
Finnish	0.00	0.00
European (Non-Finnish)	0.0000352	0.0000352
Middle Eastern	0.000164	0.000163
South Asian	0.0000695	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Does not have a catalytic activity.

Recessive Scores

• pRec: 0.113

Intolerance Scores

• loftool: 0.264
• rvis_EVS: -0.25
• rvis_percentile_EVS: 35.42

Haploinsufficiency Scores

• pHI: 0.706
• hipred: Y
• hipred_score: 0.675
• ghis: 0.645

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.903

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Car11

Gene ontology

• Cellular component: extracellular region;basolateral plasma membrane
• Molecular function: carbonate dehydratase activity;zinc ion binding