• Gene id: 1821

Gene Summary

• Gene Symbol: DRP2   Gene   UCSC   Ensembl
• Aliases: DRP-2
• Gene name: dystrophin related protein 2
• Alternate names: dystrophin-related protein 2,
• Gene location: Xq22.1 (94262344: 94249248)     Exons: 5     NC_000008.11
• Gene summary(Entrez): 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-term
• OMIM: 300052

Protein Summary

• Protein general information: Q13474  
  • Name: Dystrophin related protein 2 (DRP 2)
  • Length: 957  
  • Mass: 107962
  • Tissue specificity: Detected in fetal brain. {ECO
• Sequence:

  MQPMVMQGCPYTLPRCHDWQAADQFHHSSSLRSTCPHPQVRAAVTSPAPPQDGAGVPCLSLKLLNGSVGASGPLE
  PPAMNLCWNEIKKKSHNLRARLEAFSDHSGKLQLPLQEIIDWLSQKDEELSAQLPLQGDVALVQQEKETHAAFME
  EVKSRGPYIYSVLESAQAFLSQHPFEELEEPHSESKDTSPKQRIQNLSRFVWKQATVASELWEKLTARCVDQHRH
  IERTLEQLLEIQGAMEELSTTLSQAEGVRATWEPIGDLFIDSLPEHIQAIKLFKEEFSPMKDGVKLVNDLAHQLA
  ISDVHLSMENSQALEQINVRWKQLQASVSERLKQLQDAHRDFGPGSQHFLSSSVQVPWERAISPNKVPYYINHQA
  QTTCWDHPKMTELYQTLADLNNIKFSAYRTAMKLRRVQKALRLDLVTLTTALEIFNEHDLQASEHVMDVVEVIHC
  LTALYERLEEERGILVNVPLCVDMSLNWLLNVFDSGRSGKMRALSFKTGIACLCGTEVKEKLQYLFSQVANSGSQ
  CDQRHLGVLLHEAIQVPRQLGEVAAFGGSNVEPSVRSCFRFSTGKPVIEASQFLEWVNLEPQSMVWLAVLHRVTI
  AEQVKHQTKCSICRQCPIKGFRYRSLKQFNVDICQTCFLTGRASKGNKLHYPIMEYYTPTTSSENMRDFATTLKN
  KFRSKHYFSKHPQRGYLPVQSVLEADYSETPASSPMWPHADTHSRIEHFASRLAEMESQNCSFFNDSLSPDDSID
  EDQYLLRHSSPITDREPAFGQQAPCSVATESKGELQKILAHLEDENRILQGELRRLKWQHEEAAEAPSLADGSTE
  AATDHRNEELLAEARILRQHKSRLETRMQILEDHNKQLESQLQRLRELLLQPPTESDGSGSAGSSLASSPQQSEG
  SHPREKGQTTPDTEAADDVGSKSQDVSLCLEDIMEKLRHAFPSVRSSDVTANTLLAS

• Structural information:
  • Protein Domains: (358..38-)
    (/note="WW-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00224"-)
  • Interpro: IPR017433  IPR011992  IPR015153  IPR015154  IPR018159   IPR002017  IPR001202  IPR036020  IPR000433  
  • Prosite: PS01159 PS50020 PS01357 PS50135
  • CDD: cd00201
  • STRING: ENSP00000378635
• Other Databases: GeneCards:  DRP2  Malacards:  DRP2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005886	plasma membrane	IBA	cellular component
GO:0099536	synaptic signaling	IBA	biological process
GO:0007417	central nervous system development	IEA	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0030054	cell junction	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0045202	synapse	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0007417	central nervous system development	TAS	biological process
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0050808	synapse organization	IEA	biological process
GO:0030425	dendrite	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0014069	postsynaptic density	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0043204	perikaryon	IEA	cellular component
GO:0014069	postsynaptic density	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881