Gene Gene information from NCBI Gene database.
Entrez ID 10491
Gene name Cartilage associated protein
Gene symbol CRTAP
Synonyms (NCBI Gene)
CASPLEPREL3OI7P3H5
Chromosome 3
Chromosome location 3p22.3
Summary 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.
14
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.
758
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605497 2379 ENSG00000170275
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
28
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
CRTAP-related disorder Likely pathogenic; Pathogenic rs72659360, rs137853943, rs1701306659 RCV003407276
RCV003927754
RCV003400325
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hepatocellular carcinoma Likely pathogenic; Pathogenic rs137853943 RCV005892212
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonpapillary renal cell carcinoma Likely pathogenic rs137853943 RCV005892404
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Osteogenesis imperfecta Likely pathogenic; Pathogenic rs2471560813, rs72659357, rs137853943, rs137853939 RCV002302531
RCV002468961
RCV002277445
RCV003155319
★★★★☆
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
ATOPIC ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLE CARPENTER SYNDROME Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLE-CARPENTER SYNDROME Orphanet
★★☆☆☆
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
Agenesis of pulmonary artery Agenesis of pulmonary artery HPO_DG
★☆☆☆☆
Found in Text Mining only
Bone Diseases Bone Disease BEFREE 17277775
★☆☆☆☆
Found in Text Mining only
Bone Diseases Bone disease Pubtator 17277775 Associate
★☆☆☆☆
Found in Text Mining only
Brain Neoplasms Brain Neoplasms BEFREE 30042341
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 16948818, 20025484, 20402676
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 20661084, 23315881
★☆☆☆☆
Found in Text Mining only
Cole Carpenter syndrome Cole Carpenter Syndrome BEFREE 25604815
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colorectal Carcinoma Colorectal Cancer BEFREE 16948818, 23303631
★☆☆☆☆
Found in Text Mining only
Congenital pectus excavatum Congenital Pectus Excavatum HPO_DG
★☆☆☆☆
Found in Text Mining only
Connective Tissue Diseases Connective Tissue Disease LHGDN 17055431
★☆☆☆☆
Found in Text Mining only