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Aliases for CA14 Gene

Aliases for CA14 Gene

  • Carbonic Anhydrase 14 2 3 5
  • Carbonic Anhydrase XIV 2 3 4
  • Carbonate Dehydratase XIV 3 4
  • CA-XIV 3 4
  • Carbonic Dehydratase 3
  • EC 4.2.1.1 4
  • CAXiV 3

External Ids for CA14 Gene

Previous GeneCards Identifiers for CA14 Gene

  • GC01P147881
  • GC01P145972
  • GC01P147005
  • GC01P147446
  • GC01P147043
  • GC01P148488
  • GC01P150230
  • GC01P121608

Summaries for CA14 Gene

Entrez Gene Summary for CA14 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 XIV is predicted to be a type I membrane protein and shares highest sequence similarity with the other transmembrane CA isoform, CA XII; however, they have different patterns of tissue-specific expression and thus may play different physiologic roles. [provided by RefSeq, Jul 2008]

GeneCards Summary for CA14 Gene

CA14 (Carbonic Anhydrase 14) is a Protein Coding gene. Diseases associated with CA14 include Proximal Renal Tubular Acidosis. Among its related pathways are Nitrogen metabolism and Metabolism. GO annotations related to this gene include carbonate dehydratase activity. An important paralog of this gene is CA12.

UniProtKB/Swiss-Prot for CA14 Gene

  • Reversible hydration of carbon dioxide.

Gene Wiki entry for CA14 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CA14 Gene

Genomics for CA14 Gene

Regulatory Elements for CA14 Gene

Enhancers for CA14 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G150156 2 FANTOM5 Ensembl ENCODE dbSUPER 9.9 -95.2 -95227 10.3 HDGF FOXA2 PKNOX1 CREB3L1 ARNT WRNIP1 SIN3A ARID4B YBX1 ZNF766 PLEKHO1 SV2A MTMR11 CA14 MCL1 PRPF3 MRPS21 ANP32E RPRD2 TNFAIP8L2
GH01G150213 1.7 FANTOM5 Ensembl ENCODE 11.5 -43.3 -43318 1.5 ATF1 FOXA2 PKNOX1 SIN3A YY1 ELK1 ZNF207 ZHX2 NFYC TBX21 ANP32E RNU2-17P CIART CA14 C1orf54 APH1A PLEKHO1 MTMR11 TARS2 RPRD2
GH01G150008 1.8 FANTOM5 ENCODE dbSUPER 9.2 -247.0 -246951 2.9 MLX CREB3L1 ZFP64 FEZF1 DMAP1 YY1 ZNF416 ZNF143 ZNF548 ZNF263 MTMR11 PRPF3 SETDB1 ADAMTSL4 SV2A UBE2D3P3 CTSK HIST2H2AC HIST2H2BE BOLA1
GH01G150191 1.3 Ensembl ENCODE 10.3 -64.9 -64926 2.1 HDGF FOXA2 PKNOX1 ATF1 ARNT CREB3L1 SIN3A ARID4B ZNF2 GLIS2 PLEKHO1 VPS45 MTMR11 HIST2H2AC HIST2H2BE BOLA1 SF3B4 C1orf54 APH1A CA14
GH01G150514 1.2 ENCODE 10.4 +258.7 258656 2.7 CREB3L1 AGO1 ZFP64 DMAP1 FEZF1 YY1 SLC30A9 ZNF143 ZNF263 SP3 ADAMTSL4 SETDB1 GABPB2 MRPS21 PRPF3 LOC100289061 ADAMTSL4-AS1 GOLPH3L HIST2H2BD HIST2H2BC
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CA14 on UCSC Golden Path with GeneCards custom track

Promoters for CA14 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000013487 -1059 201 HDAC1 TBP TBL1XR1 RAD21 GATA2 ZNF366 RCOR1 CREM DEK REST

Genomic Location for CA14 Gene

Chromosome:
1
Start:
150,257,159 bp from pter
End:
150,265,078 bp from pter
Size:
7,920 bases
Orientation:
Plus strand

Genomic View for CA14 Gene

Genes around CA14 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CA14 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CA14 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CA14 Gene

Proteins for CA14 Gene

  • Protein details for CA14 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9ULX7-CAH14_HUMAN
    Recommended name:
    Carbonic anhydrase 14
    Protein Accession:
    Q9ULX7
    Secondary Accessions:
    • Q5TB24
    • Q8NCF4

    Protein attributes for CA14 Gene

    Size:
    337 amino acids
    Molecular mass:
    37668 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for CA14 Gene

neXtProt entry for CA14 Gene

Post-translational modifications for CA14 Gene

  • Glycosylation at posLast=213213
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for CA14 (Carbonic Anhydrase XIV/CA14)

No data available for DME Specific Peptides for CA14 Gene

Domains & Families for CA14 Gene

Gene Families for CA14 Gene

Suggested Antigen Peptide Sequences for CA14 Gene

Graphical View of Domain Structure for InterPro Entry

Q9ULX7

UniProtKB/Swiss-Prot:

CAH14_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 CA14: view

Function for CA14 Gene

Molecular function for CA14 Gene

GENATLAS Biochemistry:
carbonic anhydrase XIV,expressed in adult heart,brain,kidney,liver and skeletal muscle,highly homolog to CA12
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=7.9 mM for CO(2) {ECO:0000269 PubMed:18618712};
UniProtKB/Swiss-Prot CatalyticActivity:
H(2)CO(3) = CO(2) + H(2)O.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by histamine, L-adrenaline, L- and D-histidine, and L- and D-phenylalanine. Inhibited by coumarins, saccharin, sulfonamide derivatives such as acetazolamide (AZA) and Foscarnet (phosphonoformate trisodium salt).
UniProtKB/Swiss-Prot Function:
Reversible hydration of carbon dioxide.

Enzyme Numbers (IUBMB) for CA14 Gene

Gene Ontology (GO) - Molecular Function for CA14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004089 carbonate dehydratase activity TAS --
GO:0016829 lyase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with CA14: view
genes like me logo Genes that share phenotypes with CA14: view

Animal Models for CA14 Gene

MGI Knock Outs for CA14:

Animal Model Products

  • Taconic Biosciences Mouse Models for CA14

miRNA for CA14 Gene

miRTarBase miRNAs that target CA14

Inhibitory RNA Products

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CA14 Gene

Localization for CA14 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CA14 Gene

Membrane; Single-pass type I membrane protein.

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 CA14 gene
Compartment Confidence
plasma membrane 5
extracellular 1
mitochondrion 1
nucleus 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for CA14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane TAS,IEA --
genes like me logo Genes that share ontologies with CA14: view

Pathways & Interactions for CA14 Gene

genes like me logo Genes that share pathways with CA14: view

Pathways by source for CA14 Gene

2 Reactome pathways for CA14 Gene
1 KEGG pathway for CA14 Gene

Gene Ontology (GO) - Biological Process for CA14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015701 bicarbonate transport TAS --
genes like me logo Genes that share ontologies with CA14: view

No data available for SIGNOR curated interactions for CA14 Gene

Drugs & Compounds for CA14 Gene

(10) Drugs for CA14 Gene - From: DrugBank, DGIdb, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Acetazolamide Approved, Vet_approved Pharma inhibitor, Target 80
Zonisamide Approved, Investigational Pharma Target, inhibitor Antiepileptic with anticonvulsant and mechanistic effect 68
Brinzolamide Approved Pharma inhibitor CA II inhibitor 61
Chlorthalidone Approved Pharma blocker 64
Dorzolamide Approved Pharma inhibitor 68

(3) Additional Compounds for CA14 Gene - From: HMDB and Novoseek

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 CA14: view

Transcripts for CA14 Gene

Unigene Clusters for CA14 Gene

Carbonic anhydrase XIV:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CA14 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11
SP1:
SP2: -
SP3: -

Relevant External Links for CA14 Gene

GeneLoc Exon Structure for
CA14
ECgene alternative splicing isoforms for
CA14

Expression for CA14 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CA14 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CA14 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x10.5) and Brain - Substantia nigra (x5.6).

Protein differential expression in normal tissues from HIPED for CA14 Gene

This gene is overexpressed in Retina (46.3) and Seminal vesicle (10.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CA14 Gene



NURSA nuclear receptor signaling pathways regulating expression of CA14 Gene:

CA14

SOURCE GeneReport for Unigene cluster for CA14 Gene:

Hs.528988

mRNA Expression by UniProt/SwissProt for CA14 Gene:

Q9ULX7-CAH14_HUMAN
Tissue specificity: High expression in all parts of the central nervous system and lower expression in adult liver, heart, small intestine, colon, kidney, urinary bladder and skeletal muscle.

Evidence on tissue expression from TISSUES for CA14 Gene

  • Nervous system(4.6)
  • Liver(4.3)
  • Lung(4.3)
genes like me logo Genes that share expression patterns with CA14: view

Primer Products

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for CA14 Gene

Orthologs for CA14 Gene

This gene was present in the common ancestor of animals.

Orthologs for CA14 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CA14 34 35
  • 99.01 (n)
cow
(Bos Taurus)
Mammalia CA14 34 35
  • 89.32 (n)
dog
(Canis familiaris)
Mammalia CA14 34 35
  • 87.7 (n)
rat
(Rattus norvegicus)
Mammalia Car14 34
  • 85.06 (n)
mouse
(Mus musculus)
Mammalia Car14 34 16 35
  • 84.77 (n)
oppossum
(Monodelphis domestica)
Mammalia CA14 35
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves CA14 34 35
  • 59.04 (n)
lizard
(Anolis carolinensis)
Reptilia CA14 35
  • 49 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ca14 34
  • 58.12 (n)
zebrafish
(Danio rerio)
Actinopterygii ca14 34 35
  • 56.47 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG6074 36
  • 33 (a)
CG6906 36
  • 31 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8628 35
  • 18 (a)
OneToMany
Species where no ortholog for CA14 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for CA14 Gene

ENSEMBL:
Gene Tree for CA14 (if available)
TreeFam:
Gene Tree for CA14 (if available)

Paralogs for CA14 Gene

Paralogs for CA14 Gene

(14) SIMAP similar genes for CA14 Gene using alignment to 4 proteins:

Pseudogenes.org Pseudogenes for CA14 Gene

genes like me logo Genes that share paralogs with CA14: view

Variants for CA14 Gene

Sequence variations from dbSNP and Humsavar for CA14 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000706090 -- 150,259,575(+) ATGAG(A/G)AGTTT intron-variant
rs1003159906 -- 150,256,889(+) GAGCC(C/T)CTCTT upstream-variant-2KB
rs1003435907 -- 150,257,145(+) CTGGG(C/T)ATACA upstream-variant-2KB
rs1004595135 -- 150,259,991(+) AGGTG(A/T)CCGGT intron-variant
rs1005606054 -- 150,258,302(+) GCTCA(A/G)AGATG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CA14 Gene

Variant ID Type Subtype PubMed ID
nsv1009508 CNV loss 25217958
nsv1011223 CNV gain 25217958

Variation tolerance for CA14 Gene

Residual Variation Intolerance Score: 55.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.16; 23.52% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CA14 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CA14

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CA14 Gene

Disorders for CA14 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CA14 Gene - From: GeneCards

Disorder Aliases PubMed IDs
proximal renal tubular acidosis
  • renal tubular acidosis type 2
- elite association - COSMIC cancer census association via MalaCards
Search CA14 in MalaCards View complete list of genes associated with diseases

Relevant External Links for CA14

Genetic Association Database (GAD)
CA14
Human Genome Epidemiology (HuGE) Navigator
CA14
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CA14
genes like me logo Genes that share disorders with CA14: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CA14 Gene

Publications for CA14 Gene

  1. Human carbonic anhydrase XIV (CA14): cDNA cloning, mRNA expression, and mapping to chromosome 1. (PMID: 10512682) Fujikawa-Adachi K. … Onishi S. (Genomics 1999) 2 3 4 22 64
  2. The structural comparison between membrane-associated human carbonic anhydrases provides insights into drug design of selective inhibitors. (PMID: 24374484) Alterio V. … De Simone G. (Biopolymers 2014) 3 4 64
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for CA14 Gene

Sources for CA14 Gene

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