DPYSL2 dihydropyrimidinase like 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DPYSL2provided by HGNC
Official Full Name: dihydropyrimidinase like 2provided by HGNC
Primary source: HGNC:HGNC:3014
See related: Ensembl:ENSG00000092964 MIM:602463; AllianceGenome:HGNC:3014
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DRP2; N2A3; CRMP2; DRP-2; ULIP2; CRMP-2; DHPRP2; ULIP-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 is required for Sema3A-mediated growth cone collapse, and also plays a role in synaptic signaling through interactions with calcium channels. This gene has been implicated in multiple neurological disorders, and hyperphosphorylation of the encoded protein may play a key role in the development of Alzheimer's disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]
Annotation information: Note: DRP2 (Gene ID: 1821) and DPYSL2 (Gene ID: 1808) share the DRP2 symbol/alias in common. DRP2 is a widely used alternative name for dihydropyrimidinase like 2 (DPYSL2), which can be confused with the official symbol for dystrophin related protein 2 (DRP2). [06 Jul 2018]
Expression: Broad expression in brain (RPKM 146.0), lung (RPKM 48.2) and 15 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8p21.2

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (26514031..26658175)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (26790610..26934895)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (26371547..26515691)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Forebrain commissure formation in zebrafish embryo requires the binding of KLC1 to CRMP2.
Title: Forebrain commissure formation in zebrafish embryo requires the binding of KLC1 to CRMP2.
Zinc Deficiency Decreases Neurite Extension via CRMP2 Signal Pathway.
Title: Zinc Deficiency Decreases Neurite Extension via CRMP2 Signal Pathway.
DPYSL2/CRMP2 isoform B knockout in human iPSC-derived glutamatergic neurons confirms its role in mTOR signaling and neurodevelopmental disorders.
Title: DPYSL2/CRMP2 isoform B knockout in human iPSC-derived glutamatergic neurons confirms its role in mTOR signaling and neurodevelopmental disorders.
CRMP2 Participates in Regulating Mitochondrial Morphology and Motility in Alzheimer's Disease.
Title: CRMP2 Participates in Regulating Mitochondrial Morphology and Motility in Alzheimer's Disease.
De novo non-synonymous DPYSL2 (CRMP2) variants in two patients with intellectual disabilities and documentation of functional relevance through zebrafish rescue and cellular transfection experiments.
Title: De novo non-synonymous DPYSL2 (CRMP2) variants in two patients with intellectual disabilities and documentation of functional relevance through zebrafish rescue and cellular transfection experiments.
CRMP2 derived from cancer associated fibroblasts facilitates progression of ovarian cancer via HIF-1alpha-glycolysis signaling pathway.
Title: CRMP2 derived from cancer associated fibroblasts facilitates progression of ovarian cancer via HIF-1α-glycolysis signaling pathway.
Phosphorylation of CRMP2 by Cdk5 Negatively Regulates the Surface Delivery and Synaptic Function of AMPA Receptors.
Title: Phosphorylation of CRMP2 by Cdk5 Negatively Regulates the Surface Delivery and Synaptic Function of AMPA Receptors.
DPYSL2 interacts with JAK1 to mediate breast cancer cell migration.
Title: DPYSL2 interacts with JAK1 to mediate breast cancer cell migration.
A reversible metabolic stress-sensitive regulation of CRMP2A orchestrates EMT/stemness and increases metastatic potential in cancer.
Title: A reversible metabolic stress-sensitive regulation of CRMP2A orchestrates EMT/stemness and increases metastatic potential in cancer.
Characterization of Collapsin Response Mediator Protein 2 in Colorectal Cancer Progression in Subjects with Diabetic Comorbidity.
Title: Characterization of Collapsin Response Mediator Protein 2 in Colorectal Cancer Progression in Subjects with Diabetic Comorbidity.

Submit: New GeneRIF Correction See all GeneRIFs (69)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	HIV-1 Tat induces hyperphosphorylation of CRMP2 in neuronal cells	PubMed
	tat	Expression of HIV-1 Tat upregulates the abundance of dihydropyrimidinase-like 2 (DPYSL2, CRMP2) in the nucleoli of Jurkat T-cells	PubMed
	tat	A peptide of CRMP-2 fused to the HIV transactivator of transcription Tat protein decreases neuropeptide release from sensory neurons	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-83221 (e-PCR)
- UniSTS:100880

A002O30 (e-PCR)
- UniSTS:27175

SHGC-68590 (e-PCR)
- UniSTS:100649

D8S1383E (e-PCR)
- UniSTS:2630

G62088 (e-PCR)
- UniSTS:139099

D8S1589 (e-PCR)
- UniSTS:70243

2092 (e-PCR)
- UniSTS:49075

STS-N39248 (e-PCR)
- UniSTS:69574

RH45542 (e-PCR)
- UniSTS:5116

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
NOT enables dihydropyrimidinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	IBA Inferred from Biological aspect of Ancestor more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in cytoskeleton organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in endocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in nervous system development	IEA Inferred from Electronic Annotation more info
involved_in nucleobase-containing compound metabolic process	TAS Traceable Author Statement more info	PubMed
NOT involved_in pyrimidine nucleobase catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
colocalizes_with membrane	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with microtubule	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: dihydropyrimidinase-related protein 2

Names: collapsin response mediator protein hCRMP-2; unc-33-like phosphoprotein 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_030020.1 RefSeqGene

Range

4839..148983

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001197293.3 → NP_001184222.1 dihydropyrimidinase-related protein 2 isoform 1

See identical proteins and their annotated locations for NP_001184222.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AB209195, AC015564, AC015743, BC056408, BX463316, DA649686

Consensus CDS

CCDS83268.1

UniProtKB/TrEMBL

A0A1C7CYX9, Q59GB4

Related

ENSP00000427985.2, ENST00000521913.7

Conserved Domains (1) summary

cd01314
Location:122 → 571

D-HYD; D-hydantoinases (D-HYD) also called dihydropyrimidases (DHPase) and related proteins; DHPases are a family of enzymes that catalyze the reversible hydrolytic ring opening of the amide bond in five- or six-membered cyclic diamides, like dihydropyrimidine ...
NM_001244604.2 → NP_001231533.1 dihydropyrimidinase-related protein 2 isoform 3

See identical proteins and their annotated locations for NP_001231533.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream, in-frame start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus, compared to isoform 1.

Source sequence(s)

AC015564, AK299077, BC056408, BP222303, BX463316

Consensus CDS

CCDS59096.1

UniProtKB/TrEMBL

Q53ET2

Related

ENSP00000431117.1, ENST00000523027.1

Conserved Domains (1) summary

cd01314
Location:1 → 430

D-HYD; D-hydantoinases (D-HYD) also called dihydropyrimidases (DHPase) and related proteins; DHPases are a family of enzymes that catalyze the reversible hydrolytic ring opening of the amide bond in five- or six-membered cyclic diamides, like dihydropyrimidine ...
NM_001386.6 → NP_001377.1 dihydropyrimidinase-related protein 2 isoform 2

See identical proteins and their annotated locations for NP_001377.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) is shorter and has a distinct N-terminus, compared to isoform 1.

Source sequence(s)

AC015564, BC056408, BX461557, DC333865

Consensus CDS

CCDS6051.1

UniProtKB/Swiss-Prot

A8K5H2, B4DR31, D3DSS7, O00424, Q16555

UniProtKB/TrEMBL

Q53ET2

Related

ENSP00000309539.5, ENST00000311151.9

Conserved Domains (1) summary

cd01314
Location:17 → 466

D-HYD; D-hydantoinases (D-HYD) also called dihydropyrimidases (DHPase) and related proteins; DHPases are a family of enzymes that catalyze the reversible hydrolytic ring opening of the amide bond in five- or six-membered cyclic diamides, like dihydropyrimidine ...