CA8 carbonic anhydrase 8 [Homo sapiens (human)] - Gene

Summary

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: mouse all
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Genomic context

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_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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?

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.
Carbonic anhydrase XII as biomarker and therapeutic target in ovarian carcinomas.
Title: Carbonic anhydrase XII as biomarker and therapeutic target in ovarian carcinomas.
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.
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.
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.
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.
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.
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.
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.
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	not available

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-21909 (e-PCR)
- UniSTS:76054

RH70985 (e-PCR)
- UniSTS:56857

WI-17948 (e-PCR)
- UniSTS:16430

STS-H58922 (e-PCR)
- UniSTS:40756

RH102752 (e-PCR)
- UniSTS:97086

SHGC-44649 (e-PCR)
- UniSTS:17735

RH16300 (e-PCR)
- UniSTS:81537

RH70118 (e-PCR)
- UniSTS:46980

SGC34477 (e-PCR)
- UniSTS:63372

RH16303 (e-PCR)
- UniSTS:79502

SGC44649 (e-PCR)
- UniSTS:82067

SHGC-34991 (e-PCR)
- UniSTS:21398

SHGC-32354 (e-PCR)
- UniSTS:21453

RH122992 (e-PCR)
- UniSTS:135384

SHGC-77819 (e-PCR)
- UniSTS:95965

RH121122 (e-PCR)
- UniSTS:134117

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

EC 4.2.1.1

NP_001308767.1

EC 4.2.1.1

NP_001308768.1

EC 4.2.1.1

NP_001399060.1

EC 4.2.1.1

NP_001403891.1

EC 4.2.1.1

NP_004047.3

EC 4.2.1.1

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

NG_023193.2 RefSeqGene

Range

4996..100984

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Status: REVIEWED

Source sequence(s)

CP068270
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

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