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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
634
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CRTAP-related disorder Likely pathogenic; Pathogenic rs72659360, rs137853943, rs1701306659 RCV003407276
RCV003927754
RCV003400325
Hepatocellular carcinoma Likely pathogenic; Pathogenic rs137853943 RCV005892212
Nonpapillary renal cell carcinoma Likely pathogenic rs137853943 RCV005892404
Osteogenesis imperfecta Likely pathogenic; Pathogenic rs2471560813, rs72659357, rs137853943, rs137853939 RCV002302531
RCV002468961
RCV002277445
RCV003155319
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Malignant tumor of urinary bladder Conflicting classifications of pathogenicity rs202118861 RCV005899785
Osteogenesis Imperfecta, Recessive Uncertain significance; Benign rs886058346, rs766461937, rs553161393, rs886058358, rs564250948, rs556534357, rs5847775, rs374340147, rs57153345, rs886058374 RCV000292006
RCV000328178
RCV000317175
RCV000292146
RCV000386606
RCV000408252
RCV000362361
RCV000355790
RCV000407295
RCV000270305
Ovarian serous cystadenocarcinoma Benign rs75873340 RCV005913892
Sarcoma Benign rs75873340 RCV005913891
Associations from Text MiningDisease 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