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Protein

Dystrophin-related protein 2

Gene

DRP2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-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
Complete GO annotation...

Keywords - Ligandi

Metal-binding, Zinc

Enzyme and pathway databases

BioCyciZFISH:ENSG00000102385-MONOMER.
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

HGNCiHGNC:3032. DRP2.

Subcellular locationi

  • Cell junctionsynapsepostsynaptic cell membranepostsynaptic density By similarity
  • Cell projectiondendrite By similarity
  • Perikaryon By similarity
  • Cell membrane By similarity; Peripheral membrane protein By similarity

  • Note: Detected in Schwann cells at periaxonal myelin membranes.By similarity

GO - Cellular componenti

Complete GO annotation...

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.
MINTiMINT-129503.
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

Sequence similaritiesi

Contains 2 spectrin repeats.Curated
Contains 1 WW domain.PROSITE-ProRule annotation
Contains 1 ZZ-type zinc finger.PROSITE-ProRule annotation

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

Gene3Di1.10.238.10. 2 hits.
InterProiIPR017433. 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.
IPR000433. Znf_ZZ.
[Graphical view]
PfamiPF09068. EF-hand_2. 1 hit.
PF09069. EF-hand_3. 1 hit.
PF00435. Spectrin. 1 hit.
PF00397. WW. 1 hit.
PF00569. ZZ. 1 hit.
[Graphical view]
PIRSFiPIRSF038205. Dystrophin-related_p2. 1 hit.
SMARTiSM00150. SPEC. 2 hits.
SM00456. WW. 1 hit.
SM00291. ZnF_ZZ. 1 hit.
[Graphical view]
SUPFAMiSSF47473. SSF47473. 2 hits.
SSF51045. SSF51045. 1 hit.
PROSITEiPS01159. WW_DOMAIN_1. 1 hit.
PS50020. WW_DOMAIN_2. 1 hit.
PS01357. ZF_ZZ_1. 1 hit.
PS50135. ZF_ZZ_2. 1 hit.
[Graphical view]

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 rs7066252dbSNPEnsembl.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

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliQ13474.
SMRiQ13474.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108155. 3 interactors.
MINTiMINT-129503.
STRINGi9606.ENSP00000378635.

PTM databases

iPTMnetiQ13474.
PhosphoSitePlusiQ13474.

Polymorphism and mutation databases

BioMutaiDRP2.
DMDMi212286371.

Proteomic databases

MaxQBiQ13474.
PaxDbiQ13474.
PeptideAtlasiQ13474.
PRIDEiQ13474.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

CTDi1821.
DisGeNETi1821.
GeneCardsiDRP2.
H-InvDBHIX0056236.
HGNCiHGNC:3032. DRP2.
HPAiHPA002949.
MIMi300052. gene.
neXtProtiNX_Q13474.
OpenTargetsiENSG00000102385.
PharmGKBiPA27486.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

BioCyciZFISH:ENSG00000102385-MONOMER.
SignaLinkiQ13474.

Miscellaneous databases

GenomeRNAii1821.
PMAP-CutDBQ13474.
PROiQ13474.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000102385.
CleanExiHS_DRP2.
ExpressionAtlasiQ13474. baseline and differential.
GenevisibleiQ13474. HS.

Family and domain databases

Gene3Di1.10.238.10. 2 hits.
InterProiIPR017433. 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.
IPR000433. Znf_ZZ.
[Graphical view]
PfamiPF09068. EF-hand_2. 1 hit.
PF09069. EF-hand_3. 1 hit.
PF00435. Spectrin. 1 hit.
PF00397. WW. 1 hit.
PF00569. ZZ. 1 hit.
[Graphical view]
PIRSFiPIRSF038205. Dystrophin-related_p2. 1 hit.
SMARTiSM00150. SPEC. 2 hits.
SM00456. WW. 1 hit.
SM00291. ZnF_ZZ. 1 hit.
[Graphical view]
SUPFAMiSSF47473. SSF47473. 2 hits.
SSF51045. SSF51045. 1 hit.
PROSITEiPS01159. WW_DOMAIN_1. 1 hit.
PS50020. WW_DOMAIN_2. 1 hit.
PS01357. ZF_ZZ_1. 1 hit.
PS50135. ZF_ZZ_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiDRP2_HUMAN
AccessioniPrimary (citable) accession number: Q13474
Secondary accession number(s): A6ZKI5
, A8K1B0, B1B1F3, B4DIZ0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: July 22, 2008
Last modified: November 2, 2016
This is version 134 of the entry and version 2 of the sequence. [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

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.