DRP2
Dystrophin-related protein 2
Also known as: DRP2_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q13474
- Gene
- DRP2
- Ensembl
- ENSG00000102385
- Chromosome
- X
- Canonical length
- 957 aa
- Protein class
- Predicted intracellular proteins
- Subcellular location
- Nuclear speckles,Plasma membrane
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
957 residues, UniProt reviewed canonical sequence.
>Q13474|DRP2
1 MQPMVMQGCP YTLPRCHDWQ AADQFHHSSS LRSTCPHPQV RAAVTSPAPP QDGAGVPCLS
61 LKLLNGSVGA SGPLEPPAMN LCWNEIKKKS HNLRARLEAF SDHSGKLQLP LQEIIDWLSQ
121 KDEELSAQLP LQGDVALVQQ EKETHAAFME EVKSRGPYIY SVLESAQAFL SQHPFEELEE
181 PHSESKDTSP KQRIQNLSRF VWKQATVASE LWEKLTARCV DQHRHIERTL EQLLEIQGAM
241 EELSTTLSQA EGVRATWEPI GDLFIDSLPE HIQAIKLFKE EFSPMKDGVK LVNDLAHQLA
301 ISDVHLSMEN SQALEQINVR WKQLQASVSE RLKQLQDAHR DFGPGSQHFL SSSVQVPWER
361 AISPNKVPYY INHQAQTTCW DHPKMTELYQ TLADLNNIKF SAYRTAMKLR RVQKALRLDL
421 VTLTTALEIF NEHDLQASEH VMDVVEVIHC LTALYERLEE ERGILVNVPL CVDMSLNWLL
481 NVFDSGRSGK MRALSFKTGI ACLCGTEVKE KLQYLFSQVA NSGSQCDQRH LGVLLHEAIQ
541 VPRQLGEVAA FGGSNVEPSV RSCFRFSTGK PVIEASQFLE WVNLEPQSMV WLAVLHRVTI
601 AEQVKHQTKC SICRQCPIKG FRYRSLKQFN VDICQTCFLT GRASKGNKLH YPIMEYYTPT
661 TSSENMRDFA TTLKNKFRSK HYFSKHPQRG YLPVQSVLEA DYSETPASSP MWPHADTHSR
721 IEHFASRLAE MESQNCSFFN DSLSPDDSID EDQYLLRHSS PITDREPAFG QQAPCSVATE
781 SKGELQKILA HLEDENRILQ GELRRLKWQH EEAAEAPSLA DGSTEAATDH RNEELLAEAR
841 ILRQHKSRLE TRMQILEDHN KQLESQLQRL RELLLQPPTE SDGSGSAGSS LASSPQQSEG
901 SHPREKGQTT PDTEAADDVG SKSQDVSLCL EDIMEKLRHA FPSVRSSDVT ANTLLASLocalizationUniProt · AlphaFold · HPA
Whether an antibody against DRP2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.41
- Highest tissue expression
- 12 nTPM
Expression across tissuesHPA
Tissue
- cerebral cortex: 12 nTPM
- basal ganglia: 10 nTPM
- hippocampal formation: 5.3 nTPM
- thymus: 4.4 nTPM
- amygdala: 4.3 nTPM
- hypothalamus: 3.7 nTPM
Single-cell type
- brain inhibitory neurons: 32 nCPM
- brain excitatory neurons: 27 nCPM
- retinal amacrine cells: 24 nCPM
- oligodendrocyte progenitor cells: 22 nCPM
- schwann cells: 21 nCPM
- gonadotrophs: 20 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- cerebral cortex: 24 nTPM
- hippocampal formation: 19 nTPM
- basal ganglia: 16 nTPM
- white matter: 16 nTPM
- amygdala: 12 nTPM
- midbrain: 12 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about DRP2.
Disease | GeneticClinVar
18 pathogenic / likely-pathogenic of 565 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.63
- gnomAD pLI
- 0
- gnomAD missense Z
- 1.7
- DepMap mean gene effect
- -0.04
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of DRP2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads DRP2 as an antibody target. Whether an autoantibody or antibody against DRP2 could matter depends on whether native DRP2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
DRP2 is annotated at the cell surface, where native DRP2 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label DRP2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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