Gene Gene information from NCBI Gene database.
Entrez ID 56896
Gene name Dihydropyrimidinase like 5
Gene symbol DPYSL5
Synonyms (NCBI Gene)
CRAMCRMP-5CRMP5CV2RTSC4Ulip6
Chromosome 2
Chromosome location 2p23.3
Summary This gene encodes a member of the CRMP (collapsing response mediator protein) family thought to be involved in neural development. Antibodies to the encoded protein were found in some patients with neurologic symptoms who had paraneoplastic syndrome. A ps
miRNA miRNA information provided by mirtarbase database.
521
miRTarBase ID miRNA Experiments Reference
MIRT017874 hsa-miR-335-5p Microarray 18185580
MIRT052194 hsa-let-7b-5p CLASH 23622248
MIRT045298 hsa-miR-186-5p CLASH 23622248
MIRT038285 hsa-miR-130b-5p CLASH 23622248
MIRT719153 hsa-miR-483-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
GO ID Ontology Definition Evidence Reference
GO:0004157 Function Dihydropyrimidinase activity IBA
GO:0005515 Function Protein binding IPI 25416956, 28514442, 29892012, 31515488, 32296183, 32814053, 33961781
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol IBA
GO:0005829 Component Cytosol TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608383 20637 ENSG00000157851
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BPU6
Protein name Dihydropyrimidinase-related protein 5 (DRP-5) (CRMP3-associated molecule) (CRAM) (Collapsin response mediator protein 5) (CRMP-5) (UNC33-like phosphoprotein 6) (ULIP-6)
Protein function Involved in the negative regulation of dendrite outgrowth.
PDB 4B90 , 4B91 , 4B92
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01979 Amidohydro_1 57 446 Amidohydrolase family Domain
Sequence
Sequence length 564
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Axon guidance   CRMPs in Sema3A signaling
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
16
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
DPYSL5-related disorder Pathogenic rs866373727 RCV005863455
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ritscher-Schinzel syndrome 4 Pathogenic rs866373727 RCV001542271
★★★★☆
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
Autism spectrum disorder Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Dandy-Walker syndrome Uncertain significance ClinVar
Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
DIABETIC NEPHROPATHY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
3C syndrome Associate 33894126
★☆☆☆☆
Found in Text Mining only
Agenesis of Corpus Callosum Associate 33894126
★☆☆☆☆
Found in Text Mining only
Central Nervous System Vascular Malformations Associate 33894126
★☆☆☆☆
Found in Text Mining only
Cerebellar Diseases Associate 33894126
★☆☆☆☆
Found in Text Mining only
Developmental Disabilities Associate 33894126
★☆☆☆☆
Found in Text Mining only
Diabetes Gestational Associate 36313769
★☆☆☆☆
Found in Text Mining only
Infratentorial Neoplasms Associate 33894126
★☆☆☆☆
Found in Text Mining only
Intellectual Disability Associate 33894126
★☆☆☆☆
Found in Text Mining only
Malformations of Cortical Development Associate 28222113
★☆☆☆☆
Found in Text Mining only
Neoplasms Associate 15007130
★☆☆☆☆
Found in Text Mining only