DRP2 dystrophin related protein 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DRP2provided by HGNC
Official Full Name: dystrophin related protein 2provided by HGNC
Primary source: HGNC:HGNC:3032
See related: Ensembl:ENSG00000102385 MIM:300052; AllianceGenome:HGNC:3032
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: DRP-2
Summary: Members of the dystrophin family of proteins perform a critical role in the maintenance of membrane-associated complexes at points of intercellular contact in vertebrate cells. The protein encoded by this gene is predicted to resemble certain short C-terminal isoforms of dystrophin and dystrophin-related protein 1 (DRP1 or utrophin). DRP2 is expressed principally in the brain and spinal cord. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]
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: Biased expression in brain (RPKM 5.3), ovary (RPKM 0.8) and 3 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xq22.1

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (101219786..101264502)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (99663879..99708607)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (100474775..100519491)

Chromosome X - NC_000023.11 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?

Expanding the Clinical Spectrum of DRP2-Associated Charcot-Marie-Tooth Disease.
Title: Expanding the Clinical Spectrum of DRP2-Associated Charcot-Marie-Tooth Disease.
Among the genes found disrupted in this study, there is evidence suggesting that YWHAZ and also the X-linked DRP2 may be considered as novel autism candidate genes.
Title: Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations.

Submit: New GeneRIF Correction

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

Associated conditions

Description	Tests
Charcot-Marie-Tooth disease MedGen: C0007959 GeneReviews: Charcot-Marie-Tooth Hereditary Neuropathy Overview	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH44293 (e-PCR)
- UniSTS:51546

RH80834 (e-PCR)
- UniSTS:89738

DRP2__4774 (e-PCR)
- UniSTS:463255

DXS7033E (e-PCR)
- UniSTS:89338

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in central nervous system development	IEA Inferred from Electronic Annotation more info
involved_in synapse organization	IEA Inferred from Electronic Annotation more info
involved_in synaptic signaling	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in dendrite	IEA Inferred from Electronic Annotation more info
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in perikaryon	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in postsynaptic density	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: dystrophin-related protein 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_016403.1 RefSeqGene

Range

4843..49559

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001171184.2 → NP_001164655.1 dystrophin-related protein 2 isoform 2

See identical proteins and their annotated locations for NP_001164655.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.

Source sequence(s)

AK295843, BC111695, DA324498, Z68331, Z70280

Consensus CDS

CCDS55465.1

UniProtKB/Swiss-Prot

Q13474

Related

ENSP00000444752.1, ENST00000541709.5

Conserved Domains (5) summary

cd00176
Location:33 → 261

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

cd00201
Location:279 → 307

WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...

cd02334
Location:530 → 578

ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...

pfam09068
Location:308 → 426

EF-hand_2; EF hand

pfam09069
Location:430 → 521

EF-hand_3; EF-hand
NM_001939.3 → NP_001930.2 dystrophin-related protein 2 isoform 1

See identical proteins and their annotated locations for NP_001930.2

Status: REVIEWED

Description

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

Source sequence(s)

BC111695, Z68331, Z70280

Consensus CDS

CCDS14480.2

UniProtKB/Swiss-Prot

A6ZKI5, A8K1B0, B1B1F3, B4DIZ0, Q13474

Related

ENSP00000378635.3, ENST00000395209.8

Conserved Domains (5) summary

cd00176
Location:111 → 339

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

cd00201
Location:357 → 385

WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...

cd02334
Location:608 → 656

ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...

pfam09068
Location:386 → 504

EF-hand_2; EF hand

pfam09069
Location:508 → 599

EF-hand_3; EF-hand