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CA8 carbonic anhydrase 8 [ Homo sapiens (human) ]

Gene ID: 767, updated on 14-Nov-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; SCAR34; 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
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Genomic context

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See CA8 in Genome Data Viewer
Location:
8q12.1
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (60185412..60281400, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (60609460..60705474, complement)
RS_2024_09 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 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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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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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
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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 Variation Viewer (GRCh37.p13)

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 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 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_2024_08

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

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