• Gene id: 26058

Gene Summary

• Gene Symbol: GIGYF2   Gene   UCSC   Ensembl
• Aliases: GYF2, PARK11, PERQ2, PERQ3, TNRC15
• Gene name: GRB10 interacting GYF protein 2
• Alternate names: GRB10-interacting GYF protein 2, PERQ amino acid rich, with GYF domain 3, PERQ amino acid-rich with GYF domain-containing protein 2, Parkinson disease (autosomal recessive, early onset) 11, trinucleotide repeat-containing gene 15 protein,
• Gene location: 2q37.1 (232697330: 232860604)     Exons: 35     NC_000002.12
• Gene summary(Entrez): This gene contains CAG trinucleotide repeats and encodes a protein containing several stretches of polyglutamine residues. The encoded protein may be involved in the regulation of tyrosine kinase receptor signaling. This gene is located in a chromosomal r
• OMIM: 616607

Protein Summary

• Protein general information: Q6Y7W6  
  • Name: GRB10 interacting GYF protein 2 (PERQ amino acid rich with GYF domain containing protein 2) (Trinucleotide repeat containing gene 15 protein)
  • Length: 1299  
  • Mass: 150070
• Sequence:

  MAAETQTLNFGPEWLRALSSGGSITSPPLSPALPKYKLADYRYGREEMLALFLKDNKIPSDLLDKEFLPILQEEP
  LPPLALVPFTEEEQRNFSMSVNSAAVLRLTGRGGGGTVVGAPRGRSSSRGRGRGRGECGFYQRSFDEVEGVFGRG
  GGREMHRSQSWEERGDRRFEKPGRKDVGRPNFEEGGPTSVGRKHEFIRSESENWRIFREEQNGEDEDGGWRLAGS
  RRDGERWRPHSPDGPRSAGWREHMERRRRFEFDFRDRDDERGYRRVRSGSGSIDDDRDSLPEWCLEDAEEEMGTF
  DSSGAFLSLKKVQKEPIPEEQEMDFRPVDEGEECSDSEGSHNEEAKEPDKTNKKEGEKTDRVGVEASEETPQTSS
  SSARPGTPSDHQSQEASQFERKDEPKTEQTEKAEEETRMENSLPAKVPSRGDEMVADVQQPLSQIPSDTASPLLI
  LPPPVPNPSPTLRPVETPVVGAPGMGSVSTEPDDEEGLKHLEQQAEKMVAYLQDSALDDERLASKLQEHRAKGVS
  IPLMHEAMQKWYYKDPQGEIQGPFNNQEMAEWFQAGYFTMSLLVKRACDESFQPLGDIMKMWGRVPFSPGPAPPP
  HMGELDQERLTRQQELTALYQMQHLQYQQFLIQQQYAQVLAQQQKAALSSQQQQQLALLLQQFQTLKMRISDQNI
  IPSVTRSVSVPDTGSIWELQPTASQPTVWEGGSVWDLPLDTTTPGPALEQLQQLEKAKAAKLEQERREAEMRAKR
  EEEERKRQEELRRQQEEILRRQQEEERKRREEEELARRKQEEALRRQREQEIALRRQREEEERQQQEEALRRLEE
  RRREEEERRKQEELLRKQEEEAAKWAREEEEAQRRLEENRLRMEEEAARLRHEEEERKRKELEVQRQKELMRQRQ
  QQQEALRRLQQQQQQQQLAQMKLPSSSTWGQQSNTTACQSQATLSLAEIQKLEEERERQLREEQRRQQRELMKAL
  QQQQQQQQQKLSGWGNVSKPSGTTKSLLEIQQEEARQMQKQQQQQQQHQQPNRARNNTHSNLHTSIGNSVWGSIN
  TGPPNQWASDLVSSIWSNADTKNSNMGFWDDAVKEVGPRNSTNKNKNNASLSKSVGVSNRQNKKVEEEEKLLKLF
  QGVNKAQDGFTQWCEQMLHALNTANNLDVPTFVSFLKEVESPYEVHDYIRAYLGDTSEAKEFAKQFLERRAKQKA
  NQQRQQQQLPQQQQQQPPQQPPQQPQQQDSVWGMNHSTLHSVFQTNQSNNQQSNFEAVQSGKKKKKQKMVRADPS
  LLGFSVNASSERLNMGEIETLDDY

• Structural information:
  • Protein Domains: (533..58-)
    (/note="GYF-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00101"-)
  • Interpro: IPR003169  IPR035445  
  • Prosite: PS50829
  • CDD: cd00072
  • PDB: 5NVL 5NVM
  • PDBsum: 5NVL 5NVM
  • STRING: ENSP00000387170
• Other Databases: GeneCards:  GIGYF2  Malacards:  GIGYF2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0070064	proline-rich region binding	IDA	molecular function
GO:0005768	endosome	IDA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0016441	posttranscriptional gene silencing	IDA	biological process
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0010494	cytoplasmic stress granule	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0048009	insulin-like growth factor receptor signaling pathway	IMP	biological process
GO:1990635	proximal dendrite	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0043204	perikaryon	IDA	cellular component
GO:0061157	mRNA destabilization	IDA	biological process
GO:0017148	negative regulation of translation	IMP	biological process
GO:0050885	neuromuscular process controlling balance	IEA	biological process
GO:0048873	homeostasis of number of cells within a tissue	IEA	biological process
GO:0048009	insulin-like growth factor receptor signaling pathway	IEA	biological process
GO:0031571	mitotic G1 DNA damage checkpoint	IEA	biological process
GO:0021522	spinal cord motor neuron differentiation	IEA	biological process
GO:0009791	post-embryonic development	IEA	biological process
GO:0008344	adult locomotory behavior	IEA	biological process
GO:1990635	proximal dendrite	IEA	cellular component
GO:0050881	musculoskeletal movement	IEA	biological process
GO:0044267	cellular protein metabolic process	IEA	biological process
GO:0043204	perikaryon	IEA	cellular component
GO:0035264	multicellular organism growth	IEA	biological process
GO:0031982	vesicle	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007631	feeding behavior	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0045296	cadherin binding	HDA	molecular function
GO:0005829	cytosol	IDA	cellular component
GO:0032991	protein-containing complex	IDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0003723	RNA binding	HDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Parkinson disease	KEGG:H00057
Parkinson disease	KEGG:H00057
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R