Gene Gene information from NCBI Gene database.
Entrez ID 131566
Gene name Discoidin, CUB and LCCL domain containing 2
Gene symbol DCBLD2
Synonyms (NCBI Gene)
CLCP1ESDN
Chromosome 3
Chromosome location 3q12.1|3
miRNA miRNA information provided by mirtarbase database.
679
miRTarBase ID miRNA Experiments Reference
MIRT004182 hsa-miR-197-3p Microarray 16822819
MIRT026678 hsa-miR-192-5p Microarray 19074876
MIRT028238 hsa-miR-33a-5p Sequencing 20371350
MIRT029917 hsa-miR-26b-5p Microarray 19088304
MIRT051679 hsa-let-7e-5p CLASH 23622248
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
TFAP2A Activation 22468095
TFAP2A Unknown 20525283
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
10
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 23770091, 32296183
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IDA 11447234
GO:0009986 Component Cell surface IDA 11447234
GO:0016020 Component Membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608698 24627 ENSG00000057019
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96PD2
Protein name Discoidin, CUB and LCCL domain-containing protein 2 (CUB, LCCL and coagulation factor V/VIII-homology domains protein 1) (Endothelial and smooth muscle cell-derived neuropilin-like protein)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00431 CUB 72 184 CUB domain Domain
PF03815 LCCL 187 287 LCCL domain Domain
PF00754 F5_F8_type_C 307 446 F5/8 type C domain Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in testis, heart, skeletal muscle and also in cultured vascular smooth muscle cells. {ECO:0000269|PubMed:11447234, ECO:0000269|PubMed:11973641}.
Sequence
MASRAVVRARRCPQCPQVRAAAAAPAWAALPLSRSLPPCSNSSSFSMPLFLLLLLVLLLL
LEDAGAQQGDGCGHTVLGPESGTLTSINYPQTYPNSTVCEWEIRVKMGERVRIKFGDFDI
EDSDSCHFNYLRIYNGIGVSRTEIGKYCGLGLQMNHSIESKGNEITLLFMSGIHVSGRGF
LASY
SVIDKQDLITCLDTASNFLEPEFSKYCPAGCLLPFAEISGTIPHGYRDSSPLCMAG
VHAGVVSNTLGGQISVVISKGIPYYESSLANNVTSVVGHLSTSLFTF
KTSGCYGTLGMES
GVIADPQITASSVLEWTDHTGQENSWKPKKARLKKPGPPWAAFATDEYQWLQIDLNKEKK
ITGIITTGSTMVEHNYYVSAYRILYSDDGQKWTVYREPGVEQDKIFQGNKDYHQDVRNNF
LPPIIARFIRVNPTQWQQKIAMKMEL
LGCQFIPKGRPPKLTQPPPPRNSNDLKNTTAPPK
IAKGRAPKFTQPLQPRSSNEFPAQTEQTTASPDIRNTTVTPNVTKDVALAAVLVPVLVMV
LTTLILILVCAWHWRNRKKKTEGTYDLPYWDRAGWWKGMKQFLPAKAVDHEETPVRYSSS
EVNHLSPREVTTVLQADSAEYAQPLVGGIVGTLHQRSTFKPEEGKEAGYADLDPYNSPGQ
EVYHAYAEPLPITGPEYATPIIMDMSGHPTTSVGQPSTSTFKATGNQPPPLVGTYNTLLS
RTDSCSSAQAQYDTPKAGKPGLPAPDELVYQVPQSTQEVSGAGRDGECDVFKEIL
Sequence length 775
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
DCBLD2-related disorder Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
POLYCYSTIC OVARY SYNDROME CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
STOMACH NEOPLASMS CTD
★★☆☆☆
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
Arteriosclerosis Arteriosclerosis BEFREE 17697260
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 22261696, 22468095
★☆☆☆☆
Found in Text Mining only
Ataxia Telangiectasia Ataxia Telangiectasia BEFREE 22468095
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 32526247 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 11973641, 17213806
★☆☆☆☆
Found in Text Mining only
Carcinoma Pancreatic Ductal Pancreatic ductal carcinoma Pubtator 30092011, 32958051 Associate
★☆☆☆☆
Found in Text Mining only
Cardiomyopathy Restrictive Restrictive cardiomyopathy Pubtator 34145321 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 24133572, 30537927 Associate
★☆☆☆☆
Found in Text Mining only
Congenital Abnormalities Congenital abnormalities Pubtator 34145321 Associate
★☆☆☆☆
Found in Text Mining only
Developmental Disabilities Developmental disability Pubtator 34145321 Associate
★☆☆☆☆
Found in Text Mining only