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 (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)
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
ALZHEIMERS DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT NON-SYNDROMIC INTELLECTUAL DISABILITY Disgenet, Orphanet
Disgenet, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BARRETT'S ESOPHAGUS 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
Acute Confusional Senile Dementia Senile Dementia CTD_human_DG 19374891
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 37479784 Associate
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease, Early Onset Alzheimer disease CTD_human_DG 19374891
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease, Late Onset Alzheimer disease CTD_human_DG 19374891
★☆☆☆☆
Found in Text Mining only
Alzheimer`s Disease Alzheimer disease CTD_human_DG 19374891
★☆☆☆☆
Found in Text Mining only
Alzheimer`s Disease, Focal Onset Alzheimer disease CTD_human_DG 19374891
★☆☆☆☆
Found in Text Mining only
Amyloidosis Amyloidosis BEFREE 27324898, 31561361
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 30194029
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder BEFREE 31377562
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety Disorder BEFREE 31377562
★☆☆☆☆
Found in Text Mining only