Gene Gene information from NCBI Gene database.
Entrez ID 148113
Gene name Cartilage intermediate layer protein 2
Gene symbol CILP2
Synonyms (NCBI Gene)
CLIP-2
Chromosome 19
Chromosome location 19p13.11
miRNA miRNA information provided by mirtarbase database.
74
miRTarBase ID miRNA Experiments Reference
MIRT642423 hsa-miR-3127-3p HITS-CLIP 23824327
MIRT642422 hsa-miR-6756-3p HITS-CLIP 23824327
MIRT642421 hsa-miR-5193 HITS-CLIP 23824327
MIRT642420 hsa-miR-660-3p HITS-CLIP 23824327
MIRT642419 hsa-miR-3667-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
5
GO ID Ontology Definition Evidence Reference
GO:0004035 Function Alkaline phosphatase activity IDA 12746903
GO:0004551 Function Dinucleotide phosphatase activity IDA 12746903
GO:0005576 Component Extracellular region IEA
GO:0005615 Component Extracellular space IBA
GO:0070062 Component Extracellular exosome HDA 23533145
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612419 24213 ENSG00000160161
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8IUL8
Protein name Cartilage intermediate layer protein 2 (CILP-2) [Cleaved into: Cartilage intermediate layer protein 2 C1; Cartilage intermediate layer protein 2 C2]
Protein function May play a role in cartilage scaffolding.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13330 Mucin2_WxxW 59 143 Mucin-2 protein WxxW repeating region Family
PF00090 TSP_1 150 196 Thrombospondin type 1 domain Domain
PF13620 CarboxypepD_reg 210 287 Domain
PF13927 Ig_3 291 363 Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in articular chondrocytes but not in knee meniscal cartilage cells (PubMed:12746903). Localizes to the intermediate to deep zone of articular cartilage (PubMed:21880736). {ECO:0000269|PubMed:12746903, ECO:0000269|PubMed:21880
Sequence
MASLLPLLCLCVVAAHLAGARDATPTEEPMATALGLERRSVYTGQPSPALEDWEEASEWT
SWFNVDHPGGDGDFESLAAIRFYYGPARVCPRPLALEARTTDWALPSAVGERVHLNPTRG
FWCLNREQPRGRRCSNYHVRFRC
PLEASWGAWGPWGPCSGSCGPGRRLRRRHCPSPAGDA
CPGRPLEAQKCVRPRC
PGCSLDTCECPDHILLGSVVTPSGQPLLGARVSLRDQPGTVATS
DAHGTFRVPGVCADSRANIRAQMDGFSAGEAQAQANGSISVVTIILD
KLEKPYLVKHPES
RVREAGQNVTFCCKASGTPMPKKYSWFHNGTLLDRRAHGYGAHLELRGLRPDQAGIYHCK
AWN
EAGAVRSGTARLTVLAPGQPACDPRPREYLIKLPEDCGQPGSGPAYLDVGLCPDTRC
PSLAGSSPRCGDASSRCCSVRRLERREIHCPGYVLPVKVVAECGCQKCLPPRGLVRGRVV
AADSGEPLRFARILLGQEPIGFTAYQGDFTIEVPPSTQRLVVTFVDPSGEFMDAVRVLPF
DPRGAGVYHEVKAMRKKAPVILHTSQSNTIPLGELEDEAPLGELVLPSGAFRRADGKPYS
GPVEARVTFVDPRDLTSAASAPSDLRFVDSDGELAPLRTYGMFSVDLRAPGSAEQLQVGP
VAVRVAASQIHMPGHVEALKLWSLNPETGLWEEESGFRREGSSGPRVRREERVFLVGNVE
IRERRLFNLDVPERRRCFVKVRAYANDKFTPSEQVEGVVVTLVNLEPAPGFSANPRAWGR
FDSAVTGPNGACLPAFCDADRPDAYTALVTATLGGEELEPAPSLPRPLPATVGVTQPYLD
RLGYRRTDHDDPAFKRNGFRINLAKPRPGDPAEANGPVYPWRSLRECQGAPVTASHFRFA
RVEADKYEYNVVPFREGTPASWTGDLLAWWPNPQEFRACFLKVKIQGPQEYMVRSHNAGG
SHPRTRGQLYGLRDARSVRDPERPGTSAACVEFKCSGMLFDQRQVDRTLVTIMPQGSCRR
VAVNGLLRDYLTRHPPPVPAEDPAAFSMLAPLDPLGHNYGVYTVTDQSPRLAKEIAIGRC
FDGSSDGFSREMKADAGTAVTFQCREPPAGRPSLFQRLLESPATALGDIRREMSEAAQAQ
ARASGPLRTRRGRVRQ
Sequence length 1156
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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)
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
FAMILIAL HYPERLIPIDEMIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA GWAS catalog
★★☆☆☆
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
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis Pubtator 32792518 Associate
★☆☆☆☆
Found in Text Mining only
Cardiovascular Diseases Cardiovascular Diseases BEFREE 24350279
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 33099318, 38466182 Associate
★☆☆☆☆
Found in Text Mining only
Congenital clubfoot Congenital Clubfoot BEFREE 30615219
★☆☆☆☆
Found in Text Mining only
Degenerative polyarthritis Arthritis BEFREE 21880736
★☆☆☆☆
Found in Text Mining only
Diabetes Diabetes BEFREE 30896018
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Diabetes Mellitus BEFREE 30896018
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Diabetes mellitus Pubtator 30896018 Stimulate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Type 2 Diabetes mellitus, type 2 Pubtator 30896018 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus BEFREE 23457408, 25951451, 30896018
★☆☆☆☆
Found in Text Mining only