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    CA8 carbonic anhydrase 8 [ Homo sapiens (human) ]

    Gene ID: 767, updated on 16-Apr-2024

    Summary

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    Official Symbol
    CA8provided by HGNC
    Official Full Name
    carbonic anhydrase 8provided by HGNC
    Primary source
    HGNC:HGNC:1382
    See related
    Ensembl:ENSG00000178538 MIM:114815; AllianceGenome:HGNC:1382
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CALS; CARP; CA-RP; CAMRQ3; CA-VIII
    Summary
    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]
    Expression
    Broad expression in testis (RPKM 2.4), placenta (RPKM 2.4) and 20 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    8q12.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (60185412..60281400, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (60609460..60705474, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (61097971..61193959, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375863 Neighboring gene SLC2A13 pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:61193435-61193941 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:61193934-61194142 Neighboring gene CRISPRi-validated cis-regulatory element chr8.1767 Neighboring gene uncharacterized LOC105375864 Neighboring gene CRISPRi-validated cis-regulatory element chr8.1768 Neighboring gene CRISPRi-validated cis-regulatory element chr8.1769 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:61286725-61286971 Neighboring gene PDCL3 pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Carbonic anhydrase XII as biomarker and therapeutic target in ovarian carcinomas. Hiepp L, et al. PLoS One, 2022. PMID 35901081, Free PMC Article
    2. Altered glucose metabolism and its association with carbonic anhydrase 8 in Machado-Joseph Disease. Lin GY, et al. Metab Brain Dis, 2022 Aug. PMID 35488942
    3. Reversion mutation of cDNA CA8-204 minigene construct produces a truncated functional peptide that regulates calcium release in vitro and produces profound analgesia in vivo. Upadhyay U, et al. Mamm Genome, 2020 Dec. PMID 33247772
    4. Expression and Functional Study of Single Mutations of Carbonic Anhydrase 8 in Neuronal Cells. Chi TH, et al. Cell Mol Neurobiol, 2021 Aug. PMID 32583043
    5. CA8 promotes RCC proliferation and migration though its expression level is lower in tumor compared to adjacent normal tissue. Ma HL, et al. Biomed Pharmacother, 2020 Jan. PMID 31715371

    See all (60) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Effects of down-regulated carbonic anhydrase 8 on cell survival and glucose metabolism in human colorectal cancer cell lines.
      Title: Effects of down-regulated carbonic anhydrase 8 on cell survival and glucose metabolism in human colorectal cancer cell lines.
    2. Carbonic anhydrase XII as biomarker and therapeutic target in ovarian carcinomas.
      Title: Carbonic anhydrase XII as biomarker and therapeutic target in ovarian carcinomas.
    3. Altered glucose metabolism and its association with carbonic anhydrase 8 in Machado-Joseph Disease.
      Title: Altered glucose metabolism and its association with carbonic anhydrase 8 in Machado-Joseph Disease.
    4. Expression and Functional Study of Single Mutations of Carbonic Anhydrase 8 in Neuronal Cells.
      Title: Expression and Functional Study of Single Mutations of Carbonic Anhydrase 8 in Neuronal Cells.
    5. Reversion mutation of cDNA CA8-204 minigene construct produces a truncated functional peptide that regulates calcium release in vitro and produces profound analgesia in vivo.
      Title: Reversion mutation of cDNA CA8-204 minigene construct produces a truncated functional peptide that regulates calcium release in vitro and produces profound analgesia in vivo.
    6. Cerebellar ataxia with normal intellect associated with a homozygous truncating variant in CA8.
      Title: Cerebellar ataxia with normal intellect associated with a homozygous truncating variant in CA8.
    7. CA8 promotes renal cell carcinoma proliferation and migration though its expression level is lower in tumor compared to adjacent normal tissue
      Title: CA8 promotes RCC proliferation and migration though its expression level is lower in tumor compared to adjacent normal tissue.
    8. These genomic studies significantly advance the literature regarding structure-function studies on CA8-ITPR1 critical to calcium signaling pathways, synaptic functioning, neuronal excitability and analgesic responses.
      Title: Profound analgesia is associated with a truncated peptide resulting from tissue specific alternative splicing of DRG CA8-204 regulated by an exon-level cis-eQTL.
    9. results suggest that Sp1 transactivates hCA8 gene through the proximal GC box element in the promoter region
      Title: Promoter analysis and transcriptional regulation of human carbonic anhydrase VIII gene in a MERRF disease cell model.
    10. The CARP VIII and XI proteins were associated to non-hypoxic conditions and CARP XI also to the expression of cytoplasmic CA II staining suggesting that the CARPs play a role in tumorigenesis of diffusively infiltrating gliomas.
      Title: Carbonic anhydrase related protein expression in astrocytomas and oligodendroglial tumors.
    Submit: New GeneRIF Correction See all GeneRIFs (20)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3
    MedGen: C2750509 OMIM: 613227 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog
    Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).
    EBI GWAS Catalog
    Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC99509, MGC120502

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables carbonate dehydratase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables hydro-lyase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in one-carbon metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of calcium-mediated signaling IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    carbonic anhydrase-related protein
    Names
    CA-related protein
    carbonate dehydratase
    carbonic anhydrase VIII
    carbonic anhydrase-like sequence
    NP_001308766.1
    NP_001308767.1
    NP_001308768.1
    NP_001399060.1
    NP_001403891.1
    NP_004047.3

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_023193.2 RefSeqGene

      Range
      4996..100984
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001321837.2 → NP_001308766.1  carbonic anhydrase-related protein isoform a

      Status: REVIEWED

      Source sequence(s)
      AC132834, BC108929, BX098118, DC400671
      Consensus CDS
      CCDS6174.1
      UniProtKB/Swiss-Prot
      A8K0A5, B3KQZ7, P35219, Q32MY2
      Conserved Domains (1) summary
      cd03120
      Location:35 → 289
      alpha_CARP_VIII; Carbonic anhydrase alpha related protein, group VIII. Carbonic anhydrase related proteins (CARPs) are sequence similar to carbonic anhydrases. Carbonic anhydrases are zinc-containing enzymes that catalyze the reversible hydration of carbon dioxide in a ...

    2. NM_001321838.2 → NP_001308767.1  carbonic anhydrase-related protein isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) represents the allele encoded by the GRCh38 reference genome and encodes isoform (b).
      Source sequence(s)
      AC132834, BC108929, BX098118, DC400671
      UniProtKB/Swiss-Prot
      P35219
      Conserved Domains (1) summary
      cl00012
      Location:35 → 247
      alpha_CA; Carbonic anhydrase alpha (vertebrate-like) group. Carbonic anhydrases (CAs) are zinc-containing enzymes that catalyze the reversible hydration of carbon dioxide in a two-step mechanism: a nucleophilic attack of a zinc-bound hydroxide ion on carbon ...

    3. NM_001321839.2 → NP_001308768.1  carbonic anhydrase-related protein isoform c

      Status: REVIEWED

      Source sequence(s)
      AC021393, BC108929, DC400671, HY307263
      UniProtKB/Swiss-Prot
      P35219
      Conserved Domains (1) summary
      cl00012
      Location:35 → 257
      alpha_CA; Carbonic anhydrase alpha (vertebrate-like) group. Carbonic anhydrases (CAs) are zinc-containing enzymes that catalyze the reversible hydration of carbon dioxide in a two-step mechanism: a nucleophilic attack of a zinc-bound hydroxide ion on carbon ...

    4. NM_001412131.1 → NP_001399060.1  carbonic anhydrase-related protein isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) uses the same exon combination as variant 3 but represents the allele encoded by the T2T-CHM13v2.0 genome assembly. The encoded isoform (d) has a frameshifted C-terminus compared to isoform b.
      Source sequence(s)
      CP068270

    5. NM_001416962.1 → NP_001403891.1  carbonic anhydrase-related protein isoform d

      Status: REVIEWED

      Source sequence(s)
      CP068270

    6. NM_004056.6 → NP_004047.3  carbonic anhydrase-related protein isoform a

      See identical proteins and their annotated locations for NP_004047.3

      Status: REVIEWED

      Source sequence(s)
      AC021393, BC108929, DC400671, HY307263
      Consensus CDS
      CCDS6174.1
      UniProtKB/Swiss-Prot
      A8K0A5, B3KQZ7, P35219, Q32MY2
      Related
      ENSP00000314407.4, ENST00000317995.5
      Conserved Domains (1) summary
      cd03120
      Location:35 → 289
      alpha_CARP_VIII; Carbonic anhydrase alpha related protein, group VIII. Carbonic anhydrase related proteins (CARPs) are sequence similar to carbonic anhydrases. Carbonic anhydrases are zinc-containing enzymes that catalyze the reversible hydration of carbon dioxide in a ...

    RNA

    1. NR_135821.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) contains an additional internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC021393, AC132834, BC108929, DC400671, HY307263

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      60185412..60281400 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      60609460..60705474 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P35219.3 GenPept UniProtKB/Swiss-Prot:P35219

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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