CA8 (carbonic anhydrase 8)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
767
Gene name Gene Name - the full gene name approved by the HGNC.
Carbonic anhydrase 8
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CA8
Synonyms (NCBI Gene) Gene synonyms aliases
CA-RP, CA-VIII, CALS, CAMRQ3, CARP, SCAR34
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8q12.1
Summary Summary of gene provided in NCBI Entrez Gene.
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).
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(4)
SNP ID Visualize variation Clinical significance Consequence
rs79267946 T>A,C Likely-pathogenic Stop gained, non coding transcript variant, missense variant, intron variant, genic downstream transcript variant, coding sequence variant
rs267606695 A>C,G Pathogenic Non coding transcript variant, missense variant, coding sequence variant
rs387906598 C>T Pathogenic Coding sequence variant, missense variant, genic downstream transcript variant, non coding transcript variant
rs1563390893 C>T Likely-pathogenic Splice donor variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(711)
miRTarBase ID miRNA Experiments Reference
MIRT024700 hsa-miR-215-5p Microarray 19074876
MIRT026126 hsa-miR-192-5p Microarray 19074876
MIRT611318 hsa-miR-8485 HITS-CLIP 19536157
MIRT611317 hsa-miR-329-3p HITS-CLIP 19536157
MIRT611316 hsa-miR-362-3p HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(7)
GO ID Ontology Definition Evidence Reference
GO:0004089 Function Carbonate dehydratase activity IEA
GO:0004089 Function Carbonate dehydratase activity TAS 8977131
GO:0005515 Function Protein binding IPI 25416956, 25910212, 27107012, 31515488, 32296183
GO:0005737 Component Cytoplasm IEA
GO:0008270 Function Zinc ion binding IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
114815 1382 ENSG00000178538
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P35219
Protein name Carbonic anhydrase-related protein (CARP) (Carbonic anhydrase VIII) (CA-VIII)
Protein function Does not have a carbonic anhydrase catalytic activity.
PDB 2W2J
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00194 Carb_anhydrase 28 → 288 Eukaryotic-type carbonic anhydrase Domain
Sequence
Sequence length 290
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  
  Nitrogen metabolism
Metabolic pathways 		 
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 rs387906598, rs79267946, rs1563390893, rs267606695 N/A
Show/Hide Text Mining Associations (17)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Arthritis Psoriatic Associate 26601692
Arthritis Reactive Associate 26601692
Arthritis Rheumatoid Associate 26601692, 27145822, 27537849, 29724250, 33502443, 33757859, 34691039, 39836925
Ataxia Associate 19461874
Cerebellar Ataxia Mental Retardation And Dysequilibrium Syndrome 3 Associate 32316137
Colorectal Neoplasms Associate 38134110
Dysequilibrium syndrome Associate 21885617
Gait Ataxia Associate 19461874
Hodgkin Disease Associate 6370286
Intellectual Disability Associate 19461874