Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue di... See more...

Aliases for CA5B Gene

Aliases for CA5B Gene

  • Carbonic Anhydrase 5B 2 3 5
  • Carbonic Anhydrase VB, Mitochondrial 2 3
  • Carbonic Anhydrase 5B, Mitochondrial 3 4
  • Carbonate Dehydratase VB 3 4
  • EC 4.2.1.1 4 51
  • CA-VB 3 4
  • Carbonic Anhydrase VB 4
  • Carbonic Dehydratase 3
  • CAVB 3
  • CA5B 5

External Ids for CA5B Gene

Previous GeneCards Identifiers for CA5B Gene

  • GC0XP015466
  • GC0XP014582
  • GC0XP014941
  • GC0XP015117
  • GC0XP015516
  • GC0XP015666
  • GC0XP015706

Summaries for CA5B Gene

Entrez Gene Summary for CA5B Gene

  • Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. This gene encodes carbonic anhydrase 5B. CA5B, and the related CA5A gene, has its expression localized in the mitochondria though CA5B has a wider tissue distribution than CA5A, which is restricted to the liver, kidneys, and skeletal muscle. A carbonic anhydrase pseudogene (CA5BP1) is adjacent to the CA5B gene and these two loci produce CA5BP1-CA5B readthrough transcripts. [provided by RefSeq, Jan 2019]

GeneCards Summary for CA5B Gene

CA5B (Carbonic Anhydrase 5B) is a Protein Coding gene. Diseases associated with CA5B include Carbonic Anhydrase Va Deficiency and Sulfonamide Allergy. Among its related pathways are Nitrogen metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include carbonate dehydratase activity. An important paralog of this gene is CA5A.

UniProtKB/Swiss-Prot Summary for CA5B Gene

Gene Wiki entry for CA5B Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CA5B Gene

Genomics for CA5B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CA5B Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CA5B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CA5B

Top Transcription factor binding sites by QIAGEN in the CA5B gene promoter:
  • AML1a
  • FAC1
  • FOXJ2
  • FOXJ2 (long isoform)
  • p53
  • Pax-4a
  • POU2F1
  • POU2F1a
  • RP58

Genomic Locations for CA5B Gene

Latest Assembly
chrX:15,688,830-15,788,411
(GRCh38/hg38)
Size:
99,582 bases
Orientation:
Plus strand

Previous Assembly
chrX:15,756,393-15,806,534
(GRCh37/hg19 by Entrez Gene)
Size:
50,142 bases
Orientation:
Plus strand

chrX:15,706,953-15,805,747
(GRCh37/hg19 by Ensembl)
Size:
98,795 bases
Orientation:
Plus strand

Genomic View for CA5B Gene

Genes around CA5B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CA5B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CA5B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CA5B Gene

Proteins for CA5B Gene

  • Protein details for CA5B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y2D0-CAH5B_HUMAN
    Recommended name:
    Carbonic anhydrase 5B, mitochondrial
    Protein Accession:
    Q9Y2D0
    Secondary Accessions:
    • A8K4T5

    Protein attributes for CA5B Gene

    Size:
    317 amino acids
    Molecular mass:
    36434 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    No Data Available

neXtProt entry for CA5B Gene

Selected DME Specific Peptides for CA5B Gene

Q9Y2D0:
  • AELHLVH
  • GSLTTPPL
  • ELHLVHWN
  • QFHFHWG

Post-translational modifications for CA5B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CA5B Gene

Domains & Families for CA5B Gene

Gene Families for CA5B Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for CA5B Gene

Suggested Antigen Peptide Sequences for CA5B Gene

GenScript: Design optimal peptide antigens:
  • Carbonic anhydrase VB (CAH5B_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y2D0

UniProtKB/Swiss-Prot:

CAH5B_HUMAN :
  • Belongs to the alpha-carbonic anhydrase family.
Family:
  • Belongs to the alpha-carbonic anhydrase family.
genes like me logo Genes that share domains with CA5B: view

Function for CA5B Gene

Molecular function for CA5B Gene

UniProtKB/Swiss-Prot Function:
Reversible hydration of carbon dioxide.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H(+) + hydrogencarbonate = CO2 + H2O; Xref=Rhea:RHEA:10748, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:17544; EC=4.2.1.1;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by coumarins, sulfonamide derivatives such as acetazolamide (AZA), saccharin and Foscarnet (phosphonoformate trisodium salt).
GENATLAS Biochemistry:
carbonic anhydrase VB,mitochondrial,expressed in heart,skeletal muscle,pancreas,kidney,salivary glands,spinal cord but not in liver

Enzyme Numbers (IUBMB) for CA5B Gene

Gene Ontology (GO) - Molecular Function for CA5B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004089 carbonate dehydratase activity IEA,IBA 21873635
GO:0008270 zinc ion binding IEA --
GO:0016829 lyase activity IEA --
GO:0016836 hydro-lyase activity IBA 21873635
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with CA5B: view
genes like me logo Genes that share phenotypes with CA5B: view

Animal Models for CA5B Gene

MGI Knock Outs for CA5B:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CA5B

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CA5B Gene

Localization for CA5B Gene

Subcellular locations from UniProtKB/Swiss-Prot for CA5B Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CA5B gene
Compartment Confidence
mitochondrion 5
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CA5B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
GO:0005739 mitochondrion IEA,IDA --
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with CA5B: view

Pathways & Interactions for CA5B Gene

PathCards logo

SuperPathways for CA5B Gene

genes like me logo Genes that share pathways with CA5B: view

Pathways by source for CA5B Gene

2 Reactome pathways for CA5B Gene
2 KEGG pathways for CA5B Gene

Gene Ontology (GO) - Biological Process for CA5B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006730 one-carbon metabolic process IBA 21873635
GO:0009617 response to bacterium IEA --
GO:0015701 bicarbonate transport TAS --
genes like me logo Genes that share ontologies with CA5B: view

No data available for SIGNOR curated interactions for CA5B Gene

Drugs & Compounds for CA5B Gene

(7) Drugs for CA5B Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zonisamide Approved, Investigational Pharma Target, inhibitor Antiepileptic with anticonvulsant and mechanistic effect 76
Benzthiazide Approved Pharma Target, inhibitor 0
Cyclothiazide Approved Pharma Target, inhibitor 0
Carbon dioxide Approved, Investigational, Vet_approved Pharma 0
Water Approved Pharma 0

(1) Additional Compounds for CA5B Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Hydrogen carbonate
  • [CO(OH)2]
  • Dihydrogen carbonate
  • H2CO3
  • Koehlensaeure
  • Dihydrogen carbonic acid
71-52-3
genes like me logo Genes that share compounds with CA5B: view

Transcripts for CA5B Gene

mRNA/cDNA for CA5B Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CA5B

Alternative Splicing Database (ASD) splice patterns (SP) for CA5B Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11
SP1: - - - -
SP2: - - - - - -
SP3: - -
SP4: - - - -
SP5: -
SP6: - -
SP7: - -
SP8: - -

Relevant External Links for CA5B Gene

GeneLoc Exon Structure for
CA5B

Expression for CA5B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CA5B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CA5B Gene

This gene is overexpressed in Lymph node (10.4), Testis (7.9), Thyroid (7.2), and CD8 Tcells (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CA5B Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CA5B

SOURCE GeneReport for Unigene cluster for CA5B Gene:

Hs.653287

mRNA Expression by UniProt/SwissProt for CA5B Gene:

Q9Y2D0-CAH5B_HUMAN
Tissue specificity: Strongest expression in heart, pancreas, kidney, placenta, lung, and skeletal muscle. Not expressed in liver.

Evidence on tissue expression from TISSUES for CA5B Gene

  • Blood(4.4)
  • Pancreas(4.2)
  • Nervous system(3.3)
genes like me logo Genes that share expression patterns with CA5B: view

Primer products for research

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for CA5B Gene

Orthologs for CA5B Gene

This gene was present in the common ancestor of animals.

Orthologs for CA5B Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CA5B 30 31
  • 99.89 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CA5B 30 31
  • 89.48 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CA5B 30 31
  • 89.06 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Car5b 30 17 31
  • 87.59 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Car5b 30
  • 86.54 (n)
Oppossum
(Monodelphis domestica)
Mammalia CA5B 31
  • 80 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CA5B 31
  • 79 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CA5B 30
  • 71.4 (n)
-- 31
  • 69 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ca5b 30
  • 67.15 (n)
Str.16738 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.25642 30
Zebrafish
(Danio rerio)
Actinopterygii ca5 30 31
  • 60.36 (n)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CAH1 31
  • 39 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea cah-3 32
  • 40 (a)
Species where no ortholog for CA5B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for CA5B Gene

ENSEMBL:
Gene Tree for CA5B (if available)
TreeFam:
Gene Tree for CA5B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CA5B: view image

Paralogs for CA5B Gene

Paralogs for CA5B Gene

(10) SIMAP similar genes for CA5B Gene using alignment to 4 proteins:

  • CAH5B_HUMAN
  • C9IZP3_HUMAN
  • C9JA11_HUMAN
  • H7C4G3_HUMAN

Pseudogenes.org Pseudogenes for CA5B Gene

genes like me logo Genes that share paralogs with CA5B: view

Variants for CA5B Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CA5B Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CA5B Gene

Variant ID Type Subtype PubMed ID
esv2739978 CNV deletion 23290073

Variation tolerance for CA5B Gene

Residual Variation Intolerance Score: 27.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.04; 21.30% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CA5B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CA5B

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CA5B Gene

Disorders for CA5B Gene

MalaCards: The human disease database

(4) MalaCards diseases for CA5B Gene - From: COP and GCD

Disorder Aliases PubMed IDs
carbonic anhydrase va deficiency
  • ca-va deficiency
sulfonamide allergy
intracranial hypertension, idiopathic
  • pseudotumor cerebri
seborrheic dermatitis
  • seborrhea
- elite association - COSMIC cancer census association via MalaCards
Search CA5B in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CA5B

genes like me logo Genes that share disorders with CA5B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CA5B Gene

Publications for CA5B Gene

  1. Human mitochondrial carbonic anhydrase VB. cDNA cloning, mRNA expression, subcellular localization, and mapping to chromosome x. (PMID: 10409679) Fujikawa-Adachi K … Onishi S (The Journal of biological chemistry 1999) 2 3 4 23
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. Carbonic anhydrase isozymes in the human pancreas. (PMID: 11303978) Nishimori I … Onishi S (Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver 2001) 3 23
  5. Mitochondrial carbonic anhydrase CA VB: differences in tissue distribution and pattern of evolution from those of CA VA suggest distinct physiological roles. (PMID: 10677517) Shah GN … Sly WS (Proceedings of the National Academy of Sciences of the United States of America 2000) 3 23

Products for CA5B Gene

Sources for CA5B Gene