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Protein

Dystrophin-related protein 2

Gene

DRP2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at transcript leveli

Functioni

Required for normal myelination and for normal organization of the cytoplasm and the formation of Cajal bands in myelinating Schwann cells. Required for normal PRX location at appositions between the abaxonal surface of the myelin sheath and the Schwann cell plasma membrane. Possibly involved in membrane-cytoskeleton interactions of the central nervous system.By similarity

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri604 – 651ZZ-typePROSITE-ProRule annotationAdd BLAST48

GO - Molecular functioni

GO - Biological processi

  • central nervous system development Source: ProtInc
  • synapse organization Source: Ensembl

Keywordsi

LigandMetal-binding, Zinc

Enzyme and pathway databases

SignaLinkiQ13474

Names & Taxonomyi

Protein namesi
Recommended name:
Dystrophin-related protein 2
Short name:
DRP-2
Gene namesi
Name:DRP2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

EuPathDBiHostDB:ENSG00000102385.12
HGNCiHGNC:3032 DRP2
MIMi300052 gene
neXtProtiNX_Q13474

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell junction, Cell membrane, Cell projection, Membrane, Postsynaptic cell membrane, Synapse

Pathology & Biotechi

Organism-specific databases

DisGeNETi1821
OpenTargetsiENSG00000102385
PharmGKBiPA27486

Polymorphism and mutation databases

BioMutaiDRP2
DMDMi212286371

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000760831 – 957Dystrophin-related protein 2Add BLAST957

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei748PhosphoserineBy similarity1
Modified residuei910PhosphothreonineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ13474
PaxDbiQ13474
PeptideAtlasiQ13474
PRIDEiQ13474

PTM databases

iPTMnetiQ13474
PhosphoSitePlusiQ13474

Miscellaneous databases

PMAP-CutDBQ13474

Expressioni

Tissue specificityi

Detected in fetal brain.1 Publication

Gene expression databases

BgeeiENSG00000102385
CleanExiHS_DRP2
ExpressionAtlasiQ13474 baseline and differential
GenevisibleiQ13474 HS

Organism-specific databases

HPAiHPA002949

Interactioni

Subunit structurei

Interacts with PRX; this enhances phosphorylation. Identified in a dystroglycan complex that contains at least PRX, DRP2, UTRN, DMD and DAG1.By similarity

Protein-protein interaction databases

BioGridi108155, 3 interactors
MINTiQ13474
STRINGi9606.ENSP00000378635

Structurei

3D structure databases

ProteinModelPortaliQ13474
SMRiQ13474
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati102 – 179Spectrin 1Add BLAST78
Repeati231 – 337Spectrin 2Add BLAST107
Domaini358 – 383WWPROSITE-ProRule annotationAdd BLAST26

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri604 – 651ZZ-typePROSITE-ProRule annotationAdd BLAST48

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiENOG410IMEA Eukaryota
ENOG410XQUI LUCA
GeneTreeiENSGT00760000119237
HOGENOMiHOG000231175
HOVERGENiHBG053790
InParanoidiQ13474
OMAiYINHQAQ
OrthoDBiEOG091G001Y
PhylomeDBiQ13474
TreeFamiTF337303

Family and domain databases

CDDicd00201 WW, 1 hit
InterProiView protein in InterPro
IPR017433 Dystrophin-related_2
IPR011992 EF-hand-dom_pair
IPR015153 EF-hand_dom_typ1
IPR015154 EF-hand_dom_typ2
IPR018159 Spectrin/alpha-actinin
IPR002017 Spectrin_repeat
IPR001202 WW_dom
IPR036020 WW_dom_sf
IPR000433 Znf_ZZ
PfamiView protein in Pfam
PF09068 EF-hand_2, 1 hit
PF09069 EF-hand_3, 1 hit
PF00435 Spectrin, 1 hit
PF00397 WW, 1 hit
PF00569 ZZ, 1 hit
PIRSFiPIRSF038205 Dystrophin-related_p2, 1 hit
SMARTiView protein in SMART
SM00150 SPEC, 2 hits
SM00456 WW, 1 hit
SM00291 ZnF_ZZ, 1 hit
SUPFAMiSSF47473 SSF47473, 2 hits
SSF51045 SSF51045, 1 hit
PROSITEiView protein in PROSITE
PS01159 WW_DOMAIN_1, 1 hit
PS50020 WW_DOMAIN_2, 1 hit
PS01357 ZF_ZZ_1, 1 hit
PS50135 ZF_ZZ_2, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q13474-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MQPMVMQGCP YTLPRCHDWQ AADQFHHSSS LRSTCPHPQV RAAVTSPAPP
60 70 80 90 100
QDGAGVPCLS LKLLNGSVGA SGPLEPPAMN LCWNEIKKKS HNLRARLEAF
110 120 130 140 150
SDHSGKLQLP LQEIIDWLSQ KDEELSAQLP LQGDVALVQQ EKETHAAFME
160 170 180 190 200
EVKSRGPYIY SVLESAQAFL SQHPFEELEE PHSESKDTSP KQRIQNLSRF
210 220 230 240 250
VWKQATVASE LWEKLTARCV DQHRHIERTL EQLLEIQGAM EELSTTLSQA
260 270 280 290 300
EGVRATWEPI GDLFIDSLPE HIQAIKLFKE EFSPMKDGVK LVNDLAHQLA
310 320 330 340 350
ISDVHLSMEN SQALEQINVR WKQLQASVSE RLKQLQDAHR DFGPGSQHFL
360 370 380 390 400
SSSVQVPWER AISPNKVPYY INHQAQTTCW DHPKMTELYQ TLADLNNIKF
410 420 430 440 450
SAYRTAMKLR RVQKALRLDL VTLTTALEIF NEHDLQASEH VMDVVEVIHC
460 470 480 490 500
LTALYERLEE ERGILVNVPL CVDMSLNWLL NVFDSGRSGK MRALSFKTGI
510 520 530 540 550
ACLCGTEVKE KLQYLFSQVA NSGSQCDQRH LGVLLHEAIQ VPRQLGEVAA
560 570 580 590 600
FGGSNVEPSV RSCFRFSTGK PVIEASQFLE WVNLEPQSMV WLAVLHRVTI
610 620 630 640 650
AEQVKHQTKC SICRQCPIKG FRYRSLKQFN VDICQTCFLT GRASKGNKLH
660 670 680 690 700
YPIMEYYTPT TSSENMRDFA TTLKNKFRSK HYFSKHPQRG YLPVQSVLEA
710 720 730 740 750
DYSETPASSP MWPHADTHSR IEHFASRLAE MESQNCSFFN DSLSPDDSID
760 770 780 790 800
EDQYLLRHSS PITDREPAFG QQAPCSVATE SKGELQKILA HLEDENRILQ
810 820 830 840 850
GELRRLKWQH EEAAEAPSLA DGSTEAATDH RNEELLAEAR ILRQHKSRLE
860 870 880 890 900
TRMQILEDHN KQLESQLQRL RELLLQPPTE SDGSGSAGSS LASSPQQSEG
910 920 930 940 950
SHPREKGQTT PDTEAADDVG SKSQDVSLCL EDIMEKLRHA FPSVRSSDVT

ANTLLAS
Length:957
Mass (Da):107,962
Last modified:July 22, 2008 - v2
Checksum:i95B26DCFF45DDE12
GO
Isoform 2 (identifier: Q13474-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-78: Missing.

Show »
Length:879
Mass (Da):99,793
Checksum:iDE11B7EB8C9809CA
GO

Sequence cautioni

The sequence AAC50538 differs from that shown. Reason: Erroneous initiation.Curated
The sequence AAI11696 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAF82514 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti73P → L in BAF82514 (PubMed:14702039).Curated1
Sequence conflicti156G → A in AAC50538 (PubMed:8640231).Curated1
Sequence conflicti251E → G in BAF82514 (PubMed:14702039).Curated1
Sequence conflicti329S → D in AAC50538 (PubMed:8640231).Curated1
Sequence conflicti593A → P in AAC50538 (PubMed:8640231).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03389868V → L. Corresponds to variant dbSNP:rs7066252Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0426621 – 78Missing in isoform 2. 1 PublicationAdd BLAST78

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U43519 mRNA Translation: AAC50538.1 Different initiation.
AK289825 mRNA Translation: BAF82514.1 Different initiation.
AK295843 mRNA Translation: BAG58652.1
AL022155 Genomic DNA No translation available.
Z68331, Z70281 Genomic DNA Translation: CAI42016.2
Z70280 Genomic DNA No translation available.
Z70281, Z68331 Genomic DNA Translation: CAO03505.1
CH471115 Genomic DNA Translation: EAX02844.1
BC111695 mRNA Translation: AAI11696.2 Different initiation.
CCDSiCCDS14480.2 [Q13474-1]
CCDS55465.1 [Q13474-2]
RefSeqiNP_001164655.1, NM_001171184.1 [Q13474-2]
NP_001930.2, NM_001939.2 [Q13474-1]
UniGeneiHs.159291

Genome annotation databases

EnsembliENST00000395209; ENSP00000378635; ENSG00000102385 [Q13474-1]
ENST00000402866; ENSP00000385038; ENSG00000102385 [Q13474-1]
ENST00000538510; ENSP00000441051; ENSG00000102385 [Q13474-1]
ENST00000541709; ENSP00000444752; ENSG00000102385 [Q13474-2]
GeneIDi1821
KEGGihsa:1821
UCSCiuc004egz.3 human [Q13474-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiDRP2_HUMAN
AccessioniPrimary (citable) accession number: Q13474
Secondary accession number(s): A6ZKI5
, A8K1B0, B1B1F3, B4DIZ0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: July 22, 2008
Last modified: May 23, 2018
This is version 142 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

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