Property Summary

NCBI Gene PubMed Count 39
PubMed Score 241.72
PubTator Score 68.46

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (13)

Disease log2 FC p
malignant mesothelioma 5.100 7.6e-10
group 3 medulloblastoma -1.700 3.1e-02
atypical teratoid/rhabdoid tumor -1.200 1.0e-03
medulloblastoma, large-cell -1.400 3.1e-02
colon cancer -1.300 2.7e-02
lung cancer 2.800 8.1e-06
active Crohn's disease 1.200 4.3e-03
active ulcerative colitis 1.081 5.6e-03
adult high grade glioma -1.100 4.8e-02
posterior fossa group A ependymoma -1.300 2.8e-04
lung carcinoma 3.100 1.2e-42
ovarian cancer 1.100 1.6e-05
Breast cancer -1.700 7.9e-05

Synonym

Accession P35219 A8K0A5 B3KQZ7 Q32MY2 CARP
Symbols CALS
CARP
CA-RP
CAMRQ3
CA-VIII

Gene

CA8

PANTHER Protein Class (2)

PDB

2W2J  

  Ortholog (1)

Species Source Disease
Chimp OMA EggNOG

Gene RIF (9)

PMID Text
24794067 CA8 overexpression desensitizes neuronal cells to STS induced apoptotic stress and increases cell migration and invasion ability in neuronal cells.
24476000 Overexpression of CA8 in MERRF cybrids significantly decreases cell death.
21812104 This report expands the neurological and radiological phenotype associated with CA8 mutations.
20819067 review article describes the previous data on CARP VIII, including its structure, role in neurodegeneration and cancer; and bioinformatic and expression analyses.
19461874 Consanguineous Iraqi family in which affected siblings had mild mental retardation and congenital ataxia characterized by quadrupedal gait. The mutation S100P is associated with proteasome-mediated degradation, and presumably represents a null mutation.
19360879 Crystal structure of human carbonic anhydrase-related protein VIII reveals the basis for catalytic silencing
19172221 The results suggest that the variations of CA8 and CA10 loci may be important determinants of osteoporosis in Japanese women.
19172221 Observational study of gene-disease association. (HuGE Navigator)
17219437 Overexpression of Carbonic anhydrase-related protein VIII promotes colon cancer cell growth

AA Sequence

MADLSFIEDTVAFPEKEEDEEEEEEGVEWGYEEGVEWGLVFPDANGEYQSPINLNSREARYDPSLLDVRL      1 - 70
SPNYVVCRDCEVTNDGHTIQVILKSKSVLSGGPLPQGHEFELYEVRFHWGRENQRGSEHTVNFKAFPMEL     71 - 140
HLIHWNSTLFGSIDEAVGKPHGIAIIALFVQIGKEHVGLKAVTEILQDIQYKGKSKTIPCFNPNTLLPDP    141 - 210
LLRDYWVYEGSLTIPPCSEGVTWILFRYPLTISQLQIEEFRRLRTHVKGAELVEGCDGILGDNFRPTQPL    211 - 280
SDRVIRAAFQ                                                                281 - 290
//

Text Mined References (40)

PMID Year Title
27107012 2016 Pooled-matrix protein interaction screens using Barcode Fusion Genetics.
26711783 2016 Oncogenic roles of carbonic anhydrase 8 in human osteosarcoma cells.
25416956 2014 A proteome-scale map of the human interactome network.
25056061 2014 Biological insights from 108 schizophrenia-associated genetic loci.
24794067 2014 Roles of carbonic anhydrase 8 in neuronal cells and zebrafish.
24476000 2014 Effects of carbonic anhydrase-related protein VIII on human cells harbouring an A8344G mitochondrial DNA mutation.
24446689 2014 Carbonic anhydrase-related protein VIII antibodies and paraneoplastic cerebellar degeneration.
24206642 2013 8q12 microduplication including CHD7: clinical report on a new patient with Duane retraction syndrome type 3.
23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
23200251 2013 Restoring catalytic activity to the human carbonic anhydrase (CA) related proteins VIII, X and XI affords isoforms with high catalytic efficiency and susceptibility to anion inhibition.
22957024 2012 Identification of genes for complex diseases using integrated analysis of multiple types of genomic data.
22952603 2012 Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).
22686558 2012 Neuro-ophthalmologic findings in humans with quadrupedal locomotion.
22258531 2012 Duplication 8q12: confirmation of a novel recognizable phenotype with duane retraction syndrome and developmental delay.
21885617 2011 Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred.
21812104 2011 Phenotypical spectrum of cerebellar ataxia associated with a novel mutation in the CA8 gene, encoding carbonic anhydrase (CA) VIII.
21348951 2011 Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality.
21269460 2011 Initial characterization of the human central proteome.
20819067 2010 Carbonic anhydrase related protein VIII and its role in neurodegeneration and cancer.
19461874 2009 CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait.
19360879 2009 Crystal structure of human carbonic anhydrase-related protein VIII reveals the basis for catalytic silencing.
19172221 2009 Nucleotide variations in genes encoding carbonic anhydrase 8 and 10 associated with femoral bone mineral density in Japanese female with osteoporosis.
17219437 2007 Carbonic anhydrase-related protein VIII promotes colon cancer cell growth.
17207965 2007 hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.
16609906 2006 Carbonic anhydrase-related protein VIII increases invasiveness of non-small cell lung adenocarcinoma.
15942747 2005 Overexpression of carbonic anhydrase-related protein XI promotes proliferation and invasion of gastrointestinal stromal tumors.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15389893 2004 Carbonic anhydrase-related protein VIII: autoantigen in paraneoplastic cerebellar degeneration.
15140539 2004 Effect of carbonic anhydrase-related protein VIII expression on lung adenocarcinoma cell growth.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12950015 2003 Overexpression of carbonic anhydrase-related protein VIII in human colorectal cancer.
12611586 2003 Carbonic anhydrase-related protein is a novel binding protein for inositol 1,4,5-trisphosphate receptor type 1.
12536316 2003 Expression of carbonic anhydrase-related protein CA-RP VIII in non-small cell lung cancer.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12044474 2002 Developmental expression of carbonic anhydrase-related proteins VIII, X, and XI in the human brain.
9659390 1998 Molecular characterization of the human carbonic anhydrase-related protein (HCA-RP VIII).
8977131 1996 Two point mutations convert a catalytically inactive carbonic anhydrase-related protein (CARP) to an active enzyme.
8482548 1993 The deduced amino acid sequence of human carbonic anhydrase-related protein (CARP) is 98% identical to the mouse homologue.
7821612 1994 Lurching, reeling, waddling and staggering in mice--is carbonic anhydrase (CA) VIII a candidate gene?
7587398 1995 Assignment of the gene for human carbonic anhydrase VIII(CA8) to chromosome 8q11-->q12.