Gene Gene information from NCBI Gene database.
Entrez ID 1808
Gene name Dihydropyrimidinase like 2
Gene symbol DPYSL2
Synonyms (NCBI Gene)
CRMP-2CRMP2DHPRP2DRP-2DRP2N2A3ULIP-2ULIP2
Chromosome 8
Chromosome location 8p21.2
Summary This gene encodes a member of the collapsin response mediator protein family. Collapsin response mediator proteins form homo- and hetero-tetramers and facilitate neuron guidance, growth and polarity. The encoded protein promotes microtubule assembly and i
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs138340807 C>A,T Benign, likely-pathogenic Synonymous variant, missense variant, coding sequence variant, 5 prime UTR variant
miRNA miRNA information provided by mirtarbase database.
927
miRTarBase ID miRNA Experiments Reference
MIRT031306 hsa-miR-19a-3p Reporter assay 21654684
MIRT050956 hsa-miR-17-5p CLASH 23622248
MIRT047866 hsa-miR-30c-5p CLASH 23622248
MIRT047721 hsa-miR-10a-5p CLASH 23622248
MIRT044587 hsa-miR-320a CLASH 23622248
Transcription factors Transcription factors information provided by TRRUST V2 database.
4
Transcription factor Regulation Reference
GATA1 Unknown 15207709
GATA2 Unknown 15207709
PAX3 Unknown 17229153
SP1 Unknown 15207709
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
30
GO ID Ontology Definition Evidence Reference
GO:0004157 Function Dihydropyrimidinase activity IBA
GO:0004157 Function Dihydropyrimidinase activity TAS 8973361
GO:0005515 Function Protein binding IPI 16260607, 19235893, 21900206, 24722188, 25416956, 28514442, 29892012, 31515488, 32296183, 32814053, 33961781, 36950384
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602463 3014 ENSG00000092964
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q16555
Protein name Dihydropyrimidinase-related protein 2 (DRP-2) (Collapsin response mediator protein 2) (CRMP-2) (N2A3) (Unc-33-like phosphoprotein 2) (ULIP-2)
Protein function Plays a role in neuronal development and polarity, as well as in axon growth and guidance, neuronal growth cone collapse and cell migration. Necessary for signaling by class 3 semaphorins and subsequent remodeling of the cytoskeleton. May play a
PDB 2GSE , 2VM8 , 5LXX , 5MKV , 5MLE , 5X1A , 5X1C , 5X1D , 5YZ5 , 5YZA , 5YZB , 6JV9 , 6JVB , 7X68 , 8DNM
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01979 Amidohydro_1 64 453 Amidohydrolase family Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous.
Sequence
Sequence length 572
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Axon guidance   CRMPs in Sema3A signaling
Recycling pathway of L1
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
4
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
DPYSL2-related disorder Uncertain significance; Likely benign rs915186717, rs762997682, rs2486816409, rs111686178 RCV003392732
RCV003414224
RCV003404455
RCV003969499
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Inhibit 34517904
Alzheimer Disease Associate 37479784
Bipolar Disorder Associate 37479784
Breast Neoplasms Associate 28731166, 35575798
Cancer Pain Associate 27456940
Carcinoma Hepatocellular Associate 36177006
Carcinoma Non Small Cell Lung Associate 38057344
Colorectal Neoplasms Associate 35203376
Developmental Disabilities Associate 37479784
Glioblastoma Associate 28498803