• Gene id: 54834

Gene Summary

• Gene Symbol: GDAP2   Gene   UCSC   Ensembl
• Aliases: MACROD3, SCAR27
• Gene name: ganglioside induced differentiation associated protein 2
• Alternate names: ganglioside-induced differentiation-associated protein 2,
• Gene location: 1p12 (117929620: 117863484)     Exons: 9     NC_000001.11
• OMIM: 618128

Protein Summary

• Protein general information: Q9NXN4  
  • Name: Ganglioside induced differentiation associated protein 2
  • Length: 497  
  • Mass: 56225
• Sequence:

  MDPLGAPSQFVDVDTLPSWGDSCQDELNSSDTTAEIFQEDTVRSPFLYNKDVNGKVVLWKGDVALLNCTAIVNTS
  NESLTDKNPVSESIFMLAGPDLKEDLQKLKGCRTGEAKLTKGFNLAARFIIHTVGPKYKSRYRTAAESSLYSCYR
  NVLQLAKEQSMSSVGFCVINSAKRGYPLEDATHIALRTVRRFLEIHGETIEKVVFAVSDLEEGTYQKLLPLYFPR
  SLKEENRSLPYLPADIGNAEGEPVVPERQIRISEKPGAPEDNQEEEDEGLGVDLSFIGSHAFARMEGDIDKQRKL
  ILQGQLSEAALQKQHQRNYNRWLCQARSEDLSDIASLKALYQTGVDNCGRTVMVVVGRNIPVTLIDMDKALLYFI
  HVMDHIAVKEYVLVYFHTLTSEYNHLDSDFLKKLYDVVDVKYKRNLKAVYFVHPTFRSKVSTWFFTTFSVSGLKD
  KIHHVDSLHQLFSAISPEQIDFPPFVLEYDARENGPYYTSYPPSPDL

• Structural information:
  • Protein Domains: (43..22-)
    (/note="Macro-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00490-)
    (333..48-)
    (/note="CRAL-TRIO"-)
  • Interpro: IPR001251  IPR036865  IPR002589  IPR035793  
  • Prosite: PS51154
  • CDD: cd02905 cd00170
  • PDB: 4UML
  • PDBsum: 4UML
  • STRING: ENSP00000358451
• Other Databases: GeneCards:  GDAP2  Malacards:  GDAP2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0032526	response to retinoic acid	IEA	biological process
GO:0005765	lysosomal membrane	HDA	cellular component

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)