The protein encoded by this gene was initially named CA-related protein because of sequence similarity to other known carbonic anhydrase genes. However, the gene product lacks carbonic anhydrase activity (i.e., the reversible hydration of carbon dioxide). The gene product continues to carry a carbonic anhydrase designation based on clear sequence identity to other members of th... See more...

Aliases for CA8 Gene

Aliases for CA8 Gene

  • Carbonic Anhydrase 8 2 3 5
  • Carbonic Anhydrase VIII 2 3 4
  • CARP 2 3 4
  • Carbonic Anhydrase-Related Protein 3 4
  • CA-VIII 3 4
  • CALS 3 4
  • Carbonic Anhydrase-Like Sequence 3
  • Carbonate Dehydratase 3
  • CA-Related Protein 3
  • CAMRQ3 3
  • CA-RP 3
  • CA8 5

External Ids for CA8 Gene

Previous HGNC Symbols for CA8 Gene

  • CALS

Previous GeneCards Identifiers for CA8 Gene

  • GC08U990008
  • GC08M061040
  • GC08M060824
  • GC08M061151
  • GC08M061264
  • GC08M056591

Summaries for CA8 Gene

Entrez Gene Summary for CA8 Gene

  • The protein encoded by this gene was initially named CA-related protein because of sequence similarity to other known carbonic anhydrase genes. However, the gene product lacks carbonic anhydrase activity (i.e., the reversible hydration of carbon dioxide). The gene product continues to carry a carbonic anhydrase designation based on clear sequence identity to other members of the carbonic anhydrase gene family. The absence of CA8 gene transcription in the cerebellum of the lurcher mutant in mice with a neurologic defect suggests an important role for this acatalytic form. Mutations in this gene are associated with cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 (CMARQ3). Polymorphisms in this gene are associated with osteoporosis, and overexpression of this gene in osteosarcoma cells suggests an oncogenic role. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]

GeneCards Summary for CA8 Gene

CA8 (Carbonic Anhydrase 8) is a Protein Coding gene. Diseases associated with CA8 include Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 and Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1. Among its related pathways are Metabolism and Nitrogen metabolism. Gene Ontology (GO) annotations related to this gene include carbonate dehydratase activity. An important paralog of this gene is CA7.

UniProtKB/Swiss-Prot Summary for CA8 Gene

Gene Wiki entry for CA8 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CA8 Gene

Genomics for CA8 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CA8 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
GH08J060280 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 616.4 +0.5 499 3 ARHGAP35 GATAD2A ZNF512 SOX13 IKZF1 ZNF692 TARDBP FOXA1 MTA2 ZIC2 CA8 KT599032 piR-47545
GH08J060236 Enhancer 0.9 Ensembl ENCODE 26.7 +43.6 43589 2.8 JUND FOXJ2 EP300 ZNF766 HMBOX1 ZNF10 TCF7 LEF1 NCOR1 FOSL1 CA8 RAB2A LINC01301 piR-47545 lnc-RAB2A-4
GH08J060284 Enhancer 0.8 Ensembl 16.3 -3.6 -3601 0.8 ATF7 PRDM10 LEF1 JUND PKNOX1 REST DPF2 HDAC1 SOX6 TCF12 CA8 KT599032 piR-33804-125 LOC105375864 RAB2A
GH08J060274 Enhancer 0.6 Ensembl 15.2 +6.9 6900 0.6 SOX6 CTBP1 NFE2 ZNF316 MAFG MAFK ZNF592 ZFP91 DPF2 HDAC2 CA8 piR-47545
GH08J060255 Enhancer 0.3 Ensembl 27.1 +26.3 26299 0.2 ESR1 ZNF701 piR-47545 CA8 NPM1P6 lnc-RAB2A-4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CA8 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CA8

Top Transcription factor binding sites by QIAGEN in the CA8 gene promoter:
  • Chx10
  • CREB
  • deltaCREB
  • FOXD3
  • GR
  • GR-alpha
  • Lhx3a
  • LHX3b
  • POU2F1
  • POU2F1a

Genomic Locations for CA8 Gene

Genomic Locations for CA8 Gene
chr8:60,185,412-60,281,400
(GRCh38/hg38)
Size:
95,989 bases
Orientation:
Minus strand
chr8:61,099,906-61,193,971
(GRCh37/hg19)
Size:
94,066 bases
Orientation:
Minus strand

Genomic View for CA8 Gene

Genes around CA8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CA8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CA8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CA8 Gene

Proteins for CA8 Gene

  • Protein details for CA8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P35219-CAH8_HUMAN
    Recommended name:
    Carbonic anhydrase-related protein
    Protein Accession:
    P35219
    Secondary Accessions:
    • A8K0A5
    • B3KQZ7
    • Q32MY2

    Protein attributes for CA8 Gene

    Size:
    290 amino acids
    Molecular mass:
    32973 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for CA8 Gene

neXtProt entry for CA8 Gene

Post-translational modifications for CA8 Gene

  • Ubiquitination at Lys96
  • Modification sites at PhosphoSitePlus

Other Protein References for CA8 Gene

No data available for DME Specific Peptides for CA8 Gene

Domains & Families for CA8 Gene

Gene Families for CA8 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for CA8 Gene

InterPro:
Blocks:
  • Carbonic anhydrase, eukaryotic
ProtoNet:

Suggested Antigen Peptide Sequences for CA8 Gene

GenScript: Design optimal peptide antigens:
  • Carbonic anhydrase VIII (CAH8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P35219

UniProtKB/Swiss-Prot:

CAH8_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 CA8: view

Function for CA8 Gene

Molecular function for CA8 Gene

UniProtKB/Swiss-Prot Function:
Does not have a carbonic anhydrase catalytic activity.
GENATLAS Biochemistry:
carbonic anhydrase VIII,expressed in several tissues,putatively involved in nerve function

Phenotypes From GWAS Catalog for CA8 Gene

Gene Ontology (GO) - Molecular Function for CA8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004089 carbonate dehydratase activity TAS,IEA --
GO:0005515 protein binding IPI 25416956
GO:0008270 zinc ion binding IEA --
GO:0016836 hydro-lyase activity IBA 21873635
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with CA8: view
genes like me logo Genes that share phenotypes with CA8: view

Human Phenotype Ontology for CA8 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for CA8 Gene

miRTarBase miRNAs that target CA8

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CA8

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for CA8 Gene

Localization for CA8 Gene

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 CA8 gene
Compartment Confidence
cytoskeleton 4
cytosol 3
plasma membrane 2
extracellular 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for CA8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with CA8: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for CA8 Gene

Pathways & Interactions for CA8 Gene

PathCards logo

SuperPathways for CA8 Gene

SuperPathway Contained pathways
1 Metabolism
2 Nitrogen metabolism
genes like me logo Genes that share pathways with CA8: view

Pathways by source for CA8 Gene

2 KEGG pathways for CA8 Gene

Gene Ontology (GO) - Biological Process for CA8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006730 one-carbon metabolic process IBA 21873635
GO:0048015 phosphatidylinositol-mediated signaling IEA --
genes like me logo Genes that share ontologies with CA8: view

No data available for SIGNOR curated interactions for CA8 Gene

Drugs & Compounds for CA8 Gene

(5) Drugs for CA8 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zonisamide Approved, Investigational Pharma Target, inhibitor Antiepileptic with anticonvulsant and mechanistic effect 74
Carbon dioxide Approved, Investigational, Vet_approved Pharma 0
Water Approved Pharma 0
Zinc Approved, Investigational Pharma 1594

(2) Additional Compounds for CA8 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Carbonic acid
  • [co(OH)2]
  • Dihydrogen carbonate
  • H2CO3
  • Koehlensaeure
  • Carbonate
71-52-3, 463-79-6
genes like me logo Genes that share compounds with CA8: view

Transcripts for CA8 Gene

mRNA/cDNA for CA8 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CA8

Alternative Splicing Database (ASD) splice patterns (SP) for CA8 Gene

No ASD Table

Relevant External Links for CA8 Gene

GeneLoc Exon Structure for
CA8

Expression for CA8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CA8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CA8 Gene

This gene is overexpressed in Brain - Cerebellum (x7.5) and Kidney - Cortex (x4.1).

Protein differential expression in normal tissues from HIPED for CA8 Gene

This gene is overexpressed in Fetal Brain (25.6), Testis (13.6), and Stomach (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CA8 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CA8

SOURCE GeneReport for Unigene cluster for CA8 Gene:

Hs.654388

Evidence on tissue expression from TISSUES for CA8 Gene

  • Nervous system(4.7)
  • Kidney(2.3)
  • Blood(2.3)
  • Heart(2.3)
  • Muscle(2.1)
  • Skin(2.1)
  • Intestine(2.1)
  • Stomach(2)
  • Liver(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CA8 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
Thorax:
  • lung
  • rib
  • rib cage
Pelvis:
  • pelvis
Limb:
  • foot
  • hand
  • lower limb
  • upper limb
General:
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with CA8: view

No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for CA8 Gene

Orthologs for CA8 Gene

This gene was present in the common ancestor of animals.

Orthologs for CA8 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CA8 30 31
  • 100 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CA8 31
  • 93 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CA8 31
  • 93 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia CA8 30 31
  • 92.87 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CA8 30 31
  • 90.46 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Car8 30 17 31
  • 88.85 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Car8 30
  • 87.93 (n)
Chicken
(Gallus gallus)
Aves CA8 30 31
  • 79.62 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CA8 31
  • 86 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ca8 30
  • 76.65 (n)
Zebrafish
(Danio rerio)
Actinopterygii ca8 30 31
  • 74.87 (n)
OneToOne
Dr.13836 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3200 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG6906 32
  • 35 (a)
CAH2 31
  • 25 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea cah-3 31
  • 31 (a)
ManyToMany
cah-5 31
  • 24 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.10988 31
  • 31 (a)
OneToOne
Species where no ortholog for CA8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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 CA8 Gene

ENSEMBL:
Gene Tree for CA8 (if available)
TreeFam:
Gene Tree for CA8 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CA8: view image

Paralogs for CA8 Gene

Paralogs for CA8 Gene

(12) SIMAP similar genes for CA8 Gene using alignment to 1 proteins:

  • CAH8_HUMAN
genes like me logo Genes that share paralogs with CA8: view

Variants for CA8 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CA8 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
732854 Benign: not provided 60,281,106(-) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
740049 Likely Benign: not provided 60,222,745(-) A/G NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
743389 Likely Benign: not provided 60,281,067(-) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
747548 Likely Benign: not provided 60,279,807(-) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
810289 Uncertain Significance: not provided 60,232,278(-) G/A INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for CA8 Gene

Structural Variations from Database of Genomic Variants (DGV) for CA8 Gene

Variant ID Type Subtype PubMed ID
esv3617370 CNV loss 21293372
nsv1128422 CNV deletion 24896259
nsv396601 CNV deletion 16902084
nsv831332 CNV gain 17160897
nsv831333 CNV gain 17160897
nsv831334 CNV gain 17160897

Variation tolerance for CA8 Gene

Residual Variation Intolerance Score: 37.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.89; 35.31% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CA8 Gene

Human Gene Mutation Database (HGMD)
CA8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CA8

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CA8 Gene

Disorders for CA8 Gene

MalaCards: The human disease database

(22) MalaCards diseases for CA8 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search CA8 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CAH8_HUMAN
  • Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 (CMARQ3) [MIM:613227]: A congenital cerebellar ataxia associated with dysarthia, quadrupedal gait and mental retardation. {ECO:0000269 PubMed:19461874}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for CA8

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with CA8: view

No data available for Genatlas for CA8 Gene

Publications for CA8 Gene

  1. Carbonic anhydrase-related protein VIII promotes colon cancer cell growth. (PMID: 17219437) Nishikata M … Onishi S (Molecular carcinogenesis 2007) 2 3 23
  2. The deduced amino acid sequence of human carbonic anhydrase-related protein (CARP) is 98% identical to the mouse homologue. (PMID: 8482548) Skaggs LA … Tashian RE (Gene 1993) 3 4 23
  3. Crystal structure of human carbonic anhydrase-related protein VIII reveals the basis for catalytic silencing. (PMID: 19360879) Picaud SS … Yue WW (Proteins 2009) 3 4
  4. CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait. (PMID: 19461874) Türkmen S … Robinson PN (PLoS genetics 2009) 3 4
  5. Nucleotide variations in genes encoding carbonic anhydrase 8 and 10 associated with femoral bone mineral density in Japanese female with osteoporosis. (PMID: 19172221) Mori S … Ikegawa S (Journal of bone and mineral metabolism 2009) 3 41

Products for CA8 Gene

Sources for CA8 Gene