Gene Gene information from NCBI Gene database.
Entrez ID 767
Gene name Carbonic anhydrase 8
Gene symbol CA8
Synonyms (NCBI Gene)
CA-RPCA-VIIICALSCAMRQ3CARPSCAR34
Chromosome 8
Chromosome location 8q12.1
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).
SNPs SNP information provided by dbSNP.
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.
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
114815 1382 ENSG00000178538
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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.
  KEGG 
  Nitrogen metabolism
Metabolic pathways
 
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
19
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 Pathogenic; Likely pathogenic rs267606695, rs387906598, rs79267946, rs1563390893, rs1807291595 RCV000019170
RCV000022460
RCV000625736
RCV000678676
RCV001199037
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CEREBELLAR ATAXIA ClinGen, Disgenet, Orphanet
ClinGen, Disgenet, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CEREBELLAR ATAXIA, INTELLECTUAL DISABILITY, AND DYSEQUILIBRIUM Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 3 CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 12950015, 16609906
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 16609906
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 12950015
★☆☆☆☆
Found in Text Mining only
Adenoma of large intestine Colorectal adenoma BEFREE 12950015
★☆☆☆☆
Found in Text Mining only
Arthritis Psoriatic Psoriatic arthritis Pubtator 26601692 Associate
★☆☆☆☆
Found in Text Mining only
Arthritis Reactive Reactive arthritis Pubtator 26601692 Associate
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 26601692, 27145822, 27537849, 29724250, 33502443, 33757859, 34691039, 39836925 Associate
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma BEFREE 29792187
★☆☆☆☆
Found in Text Mining only
Ataxia Ataxia Pubtator 19461874 Associate
★☆☆☆☆
Found in Text Mining only
Breast adenocarcinoma Breast Adenocarcinoma BEFREE 12377985
★☆☆☆☆
Found in Text Mining only