Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10491
Gene name Gene Name - the full gene name approved by the HGNC.
Cartilage associated protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CRTAP
Synonyms (NCBI Gene) Gene synonyms aliases
CASP, LEPREL3, OI7, P3H5
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p22.3
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is similar to the chicken and mouse CRTAP genes. The encoded protein is a scaffolding protein that may influence the activity of at least one member of the cytohesin/ARNO family in response to specific cellular stimuli. De
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs72659357 G>A Pathogenic Missense variant, initiator codon variant
rs72659359 G>A,C Pathogenic Splice donor variant
rs72659361 C>T Pathogenic Coding sequence variant, stop gained
rs72659362 T>- Pathogenic Coding sequence variant, frameshift variant
rs115198029 C>T Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT025763 hsa-miR-7-5p Microarray 19073608
MIRT027681 hsa-miR-98-5p Microarray 19088304
MIRT041994 hsa-miR-484 CLASH 23622248
MIRT038419 hsa-miR-296-3p CLASH 23622248
MIRT036134 hsa-miR-1296-5p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 30021884, 33961781
GO:0005515 Function Protein binding ISS
GO:0005518 Function Collagen binding IBA
GO:0005576 Component Extracellular region IEA
GO:0005615 Component Extracellular space IDA 19846465
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605497 2379 ENSG00000170275
Protein
UniProt ID O75718
Protein name Cartilage-associated protein
Protein function Necessary for efficient 3-hydroxylation of fibrillar collagen prolyl residues.
PDB 8K0E , 8K0F , 8K0I , 8K0M , 8K17 , 8KC9
Family and domains
Tissue specificity TISSUE SPECIFICITY: Found in articular chondrocytes. Expressed in a variety of tissues.
Sequence
MEPGRRGAAALLALLCVACALRAGRAQYERYSFRSFPRDELMPLESAYRHALDKYSGEHW
AESVGYLEISLRLHRLLRDSEAFCHRNCSAAPQPEPAAGLASYPELRLFGGLLRRAHCLK
RCKQGLPAFRQSQPSREVLADFQRREPYKFLQFAYFKANNLPKAIAAAHTFLLKHPDDEM
MKRNMAYYKSLPGAEDYIKDLETKSYESLFIRAVRAYNGENWRTSITDMELALPDFFKAF
YECLAACEGSREIKDFKDFYLSIADHYVEVLECKIQCEENLTPVIGGYPVEKFVATMYHY
LQFAYYKLNDLKNAAPCAVSYLLFDQNDKVMQQNLVYYQYHRDTWGLSDEHFQPRPEAVQ
FFNVTTLQKELYDFAKENIMDDDEGEVVEYVDDLLELEETS
Sequence length 401
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Collagen biosynthesis and modifying enzymes
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Osteogenesis Imperfecta Osteogenesis imperfecta type 7, osteogenesis imperfecta rs72659360, rs863225043, rs72659362, rs137853944, rs72659359, rs972668240, rs72659361, rs137853939, rs72659357, rs768626850, rs387907333, rs1701306294, rs387907334, rs137853943 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Asthma Atopic asthma N/A N/A GWAS
Mental Depression Major depressive disorder N/A N/A GWAS
Multiple Sclerosis Multiple sclerosis N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Bone Diseases Associate 17277775
Collagen Diseases Associate 39245686
Disease Associate 37146916
Hearing Loss Noise Induced Associate 28738811
Inflammation Associate 32682809
Lung Neoplasms Associate 20661084
Lymphedema Congenital Recessive Associate 18566967
Neoplasms Associate 32682809
Neoplasms Second Primary Associate 23271051
Osteogenesis Imperfecta Associate 17277775, 18566967, 20089953, 20188343, 20839288, 21282188, 21829228, 21955071, 21964860, 25742658, 26634552, 27335225, 28802583, 30993352, 39245686