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CA5B Gene(Protein Coding)

Carbonic Anhydrase 5B

GCID:
GC0XP015706
GIFtS:
50
Genes Participants
UDN Logo

Aliases for CA5B Gene

Aliases for CA5B Gene

  • Carbonic Anhydrase 5B 2 3 5
  • Carbonic Anhydrase VB, Mitochondrial 2 3
  • Carbonate Dehydratase VB 3 4
  • EC 4.2.1.1 4 56
  • CA-VB 3 4
  • Carbonic Anhydrase 5B, Mitochondrial 3
  • Carbonic Anhydrase VB 4
  • Carbonic Dehydratase 3

External Ids for CA5B Gene

Previous GeneCards Identifiers for CA5B Gene

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

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. CA VB is localized in the mitochondria and shows the highest sequence similarity to the other mitochondrial CA, CA VA. It has a wider tissue distribution than CA VA, which is restricted to the liver. The differences in tissue distribution suggest that the two mitochondrial carbonic anhydrases evolved to assume different physiologic roles. [provided by RefSeq, Jul 2008]

GeneCards Summary for CA5B Gene

CA5B (Carbonic Anhydrase 5B) is a Protein Coding gene. Diseases associated with CA5B include Carbonic Anhydrase Va Deficiency and Heart Conduction Disease. 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 for CA5B Gene

  • Reversible hydration of carbon dioxide.

Gene Wiki entry for CA5B Gene

Additional gene information for CA5B Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CA5B Gene

Genomics for CA5B Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for CA5B Gene

Promoters and enhancers for CA5B Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH0XI015748 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 582.3 +63.3 63336 6.8 PKNOX1 KLF1 ZBTB6 KLF17 FEZF1 GATA3 ZSCAN5C ATF7 PRDM10 KLF7 CA5B ZRSR2 CA5BP1 PIGA CLTRN GC0XP015773 ENSG00000200620
GH0XI015737 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 562.6 +49.5 49467 2.2 HDGF PKNOX1 SIN3A YY1 GLIS2 ZNF143 KLF13 SP3 NCOA1 ZNF518A CA5B CLTRN CA5BP1 ENSG00000200620 VEGFD GC0XP015773
GH0XI015687 Enhancer 0.6 ENCODE 550.8 -1.6 -1557 0.2 MEIS2 CTCF PKNOX1 ZNF654 FOXA2 TRIM22 RAD21 FOXA1 ZNF143 SMC3 CA5B CA5BP1
GH0XI015789 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 12.7 +102.1 102062 2.6 HDGF PKNOX1 ATF1 ARNT ARID4B SIN3A ZNF2 YY1 POLR2B ZNF143 ZRSR2 CA5B CA5BP1 VEGFD GC0XP015773 AP1S2
GH0XI015596 Promoter/Enhancer 1.2 EPDnew ENCODE 11.1 -89.2 -89236 6.7 SOX13 FOXA2 SAP130 JUN CEBPG RARA TEAD3 GATA3 NR2F6 HOMEZ ACE2 CLTRN PIR CA5BP1 CA5B GS1-594A7.3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CA5B on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CA5B gene promoter:

Genomic Locations for CA5B Gene

Genomic Locations for CA5B Gene
chrX:15,688,830-15,788,409
(GRCh38/hg38)
Size:
99,580 bases
Orientation:
Plus strand
chrX:15,706,953-15,805,748
(GRCh37/hg19)

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 Structure • Gene Density

RefSeq DNA sequence for CA5B Gene

Proteins for CA5B Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for CA5B Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for CA5B (Carbonic Anhydrase VB/CA5B)

Domains & Families for CA5B Gene

Gene Families for CA5B Gene

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

Protein Domains for CA5B Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CA5B Gene

GenScript: Design optimal peptide antigens:

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for CA5B Gene

GENATLAS Biochemistry:
carbonic anhydrase VB,mitochondrial,expressed in heart,skeletal muscle,pancreas,kidney,salivary glands,spinal cord but not in liver
UniProtKB/Swiss-Prot CatalyticActivity:
H(2)CO(3) = CO(2) + H(2)O.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by coumarins, sulfonamide derivatives such as acetazolamide (AZA), saccharin and Foscarnet (phosphonoformate trisodium salt).
UniProtKB/Swiss-Prot Function:
Reversible hydration of carbon dioxide.

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 TAS --
GO:0008270 zinc ion binding IEA --
GO:0016829 lyase activity IEA --
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:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

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
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CA5B Gene

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

Pathways & Interactions 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
1 KEGG pathway 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 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

Products:

  1. Drug

(5) 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 69
Carbon dioxide Approved, Investigational, Vet_approved Pharma 0
Water Approved Pharma 0
Zinc Approved, Investigational Pharma 2430
Ellagic acid Investigational Pharma Target, inhibitor Casein kinase 2 (CK2) inhibitor, Selective inhibitor of CK2. Also inhibits glutathione S-transferase 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Carbonic acid
  • Acid of air
  • Aerial acid
  • Bisodium carbonate
  • Calcined
  • Carbonic acid sodium salt
 463-79-6
genes like me logo Genes that share compounds with CA5B: view

Transcripts for CA5B Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for CA5B Gene

(5) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(219) Selected AceView cDNA sequences:
(10) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CA5B Gene

Carbonic anhydrase VB, mitochondrial:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

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
ECgene alternative splicing isoforms for
CA5B

Expression for CA5B Gene

Products:

  1. Primer
  2. Gene Expression Assay

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

mRNA expression in normal human tissues for CA5B Gene
mRNA expression by BioGPS for CA5B GenemRNA expression by GTEx 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, PaxDb, and MOPED for CA5B Gene



NURSA nuclear receptor signaling pathways regulating expression of CA5B Gene:

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(4.2)
  • Pancreas(4)
  • Nervous system(2.9)
  • Heart(2.5)
genes like me logo Genes that share expression patterns with CA5B: view

Primer Products

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 33 34
  • 99.89 (n)
dog
(Canis familiaris)
 Mammalia CA5B 33 34
  • 89.48 (n)
cow
(Bos Taurus)
 Mammalia CA5B 33 34
  • 89.06 (n)
mouse
(Mus musculus)
 Mammalia Car5b 33 16 34
  • 87.59 (n)
rat
(Rattus norvegicus)
 Mammalia Car5b 33
  • 86.54 (n)
oppossum
(Monodelphis domestica)
 Mammalia CA5B 34
  • 80 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia CA5B 34
  • 79 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves CA5B 33
  • 71.4 (n)
-- 34
  • 69 (a)
 OneToMany
tropical clawed frog
(Silurana tropicalis)
 Amphibia ca5b 33
  • 67.15 (n)
Str.16738 33
African clawed frog
(Xenopus laevis)
 Amphibia Xl.25642 33
zebrafish
(Danio rerio)
 Actinopterygii ca5 33 34
  • 60.36 (n)
fruit fly
(Drosophila melanogaster)
 Insecta CAH1 34
  • 39 (a)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea cah-3 35
  • 40 (a)
Species where no ortholog for CA5B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for CA5B Gene

Paralogs for CA5B Gene

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

Pseudogenes.org Pseudogenes for CA5B Gene

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

Variants for CA5B Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for CA5B Gene

SNP ID Clin Chr 0X pos Variation AA Info Type
rs1000126800 -- 15,777,480(+) A/G intron_variant
rs1000224946 -- 15,747,817(+) C/T genic_upstream_transcript_variant, intron_variant
rs1000450493 -- 15,738,285(+) G/A 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs1000499115 -- 15,778,002(+) G/A intron_variant
rs1000651563 -- 15,780,846(+) TTT/T intron_variant

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 Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CA5B Gene

Disorders for CA5B Gene

MalaCards: The human disease database

(3) MalaCards diseases for CA5B Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
carbonic anhydrase va deficiency
  • ca-va deficiency
heart conduction disease
  • heart rhythm disease
heart septal defect
  • cardiac septal defects
- 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

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 22 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  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 58
  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 22 58
  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 22 58

Products for CA5B Gene

Sources for CA5B Gene

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