Property Summary

NCBI Gene PubMed Count 39
Grant Count 15
R01 Count 4
Funding $2,359,317
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 0.000
group 3 medulloblastoma -1.700 0.031
atypical teratoid/rhabdoid tumor -1.200 0.001
medulloblastoma, large-cell -1.400 0.031
colon cancer -1.300 0.027
lung cancer 2.800 0.000
active Crohn's disease 1.200 0.004
active ulcerative colitis 1.081 0.006
adult high grade glioma -1.100 0.048
posterior fossa group A ependymoma -1.300 0.000
lung carcinoma 3.100 0.000
ovarian cancer 1.100 0.000
Breast cancer -1.700 0.000

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.
More...