CA5B

carbonic anhydrase 5B, the group of Carbonic anhydrases

Basic information

Region (hg38): X:15688830-15788411

Links

ENSG00000169239 ∙ NCBI:11238 ∙ OMIM:300230 ∙ HGNC:1378 ∙ Uniprot:Q9Y2D0 ∙ 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 CA5B gene.

• not_specified (42 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CA5B gene is commonly pathogenic or not. These statistics are base on transcript: NM_000007220.4. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			40	2		42
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)				1		1
Total	0	0	40	3	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CA5B	protein_coding	protein_coding	ENST00000318636	7	98795

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000261	0.791	125704	11	28	125743	0.000155

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0481	125	123	1.01	0.00000994	2069
Missense in Polyphen		53	48.558	1.0915		854
Synonymous	0.286	46	48.5	0.948	0.00000391	610
Loss of Function	1.11	7	11.0	0.637	8.12e-7	189

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000557	0.000542
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000771	0.0000544
Finnish	0.000892	0.000647
European (Non-Finnish)	0.000100	0.0000703
Middle Eastern	0.0000771	0.0000544
South Asian	0.000159	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Reversible hydration of carbon dioxide.
• Pathway: Nitrogen metabolism - Homo sapiens (human);Metabolism;Reversible hydration of carbon dioxide (Consensus)

Intolerance Scores

• loftool: 0.639
• rvis_EVS: -0.07
• rvis_percentile_EVS: 48.12

Haploinsufficiency Scores

• pHI: 0.0875
• hipred: N
• hipred_score: 0.213
• ghis: 0.552

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.987

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Car5b
• Phenotype: mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); cellular phenotype; homeostasis/metabolism phenotype; growth/size/body region phenotype

Gene ontology

• Biological process: response to bacterium;bicarbonate transport
• Cellular component: mitochondrion;mitochondrial matrix
• Molecular function: carbonate dehydratase activity;zinc ion binding