Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
26058
Gene name Gene Name - the full gene name approved by the HGNC.
GRB10 interacting GYF protein 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GIGYF2
Synonyms (NCBI Gene) Gene synonyms aliases
GYF2, PARK11, PERQ2, PERQ3, TNRC15
Disease Acronyms (UniProt) Disease acronyms from UniProt database
PARK11
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q37.1
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs72554080 A>G Risk-factor Coding sequence variant, missense variant, genic downstream transcript variant, non coding transcript variant
rs115735611 A>C,G Risk-factor Non coding transcript variant, missense variant, coding sequence variant, genic downstream transcript variant
rs116074753 A>C,G Risk-factor Non coding transcript variant, missense variant, coding sequence variant, genic downstream transcript variant
rs118203903 C>G Risk-factor Non coding transcript variant, missense variant, coding sequence variant, genic downstream transcript variant
rs118203904 A>G Risk-factor Non coding transcript variant, missense variant, coding sequence variant, genic downstream transcript variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT025437 hsa-miR-34a-5p Proteomics 21566225
MIRT025437 hsa-miR-34a-5p Proteomics 21566225
MIRT025437 hsa-miR-34a-5p Proteomics 21566225
MIRT040997 hsa-miR-505-3p CLASH 23622248
MIRT037901 hsa-miR-455-3p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding HDA 22681889
GO:0005515 Function Protein binding IPI 20670374, 20696395, 20878056, 27157137
GO:0005768 Component Endosome IDA 20670374
GO:0005783 Component Endoplasmic reticulum IDA 20696395
GO:0005794 Component Golgi apparatus IDA 20696395
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
612003 11960 ENSG00000204120
Protein
UniProt ID Q6Y7W6
Protein name GRB10-interacting GYF protein 2 (PERQ amino acid-rich with GYF domain-containing protein 2) (Trinucleotide repeat-containing gene 15 protein)
Protein function Key component of the 4EHP-GYF2 complex, a multiprotein complex that acts as a repressor of translation initiation (PubMed:22751931, PubMed:31439631, PubMed:35878012). In the 4EHP-GYF2 complex, acts as a factor that bridges EIF4E2 to ZFP36/TTP, l
PDB 5NVL , 5NVM , 7RUP
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02213 GYF 536 580 GYF domain Domain
Sequence
MAAETQTLNFGPEWLRALSSGGSITSPPLSPALPKYKLADYRYGREEMLALFLKDNKIPS
DLLDKEFLPILQEEPLPPLALVPFTEEEQRNFSMSVNSAAVLRLTGRGGGGTVVGAPRGR
SSSRGRGRGRGECGFYQRSFDEVEGVFGRGGGREMHRSQSWEERGDRRFEKPGRKDVGRP
NFEEGGPTSVGRKHEFIRSESENWRIFREEQNGEDEDGGWRLAGSRRDGERWRPHSPDGP
RSAGWREHMERRRRFEFDFRDRDDERGYRRVRSGSGSIDDDRDSLPEWCLEDAEEEMGTF
DSSGAFLSLKKVQKEPIPEEQEMDFRPVDEGEECSDSEGSHNEEAKEPDKTNKKEGEKTD
RVGVEASEETPQTSSSSARPGTPSDHQSQEASQFERKDEPKTEQTEKAEEETRMENSLPA
KVPSRGDEMVADVQQPLSQIPSDTASPLLILPPPVPNPSPTLRPVETPVVGAPGMGSVST
EPDDEEGLKHLEQQAEKMVAYLQDSALDDERLASKLQEHRAKGVSIPLMHEAMQKWYYKD
PQGEIQGPFNNQEMAEWFQAGYFTMSLLVKRACDESFQPL
GDIMKMWGRVPFSPGPAPPP
HMGELDQERLTRQQELTALYQMQHLQYQQFLIQQQYAQVLAQQQKAALSSQQQQQLALLL
QQFQTLKMRISDQNIIPSVTRSVSVPDTGSIWELQPTASQPTVWEGGSVWDLPLDTTTPG
PALEQLQQLEKAKAAKLEQERREAEMRAKREEEERKRQEELRRQQEEILRRQQEEERKRR
EEEELARRKQEEALRRQREQEIALRRQREEEERQQQEEALRRLEERRREEEERRKQEELL
RKQEEEAAKWAREEEEAQRRLEENRLRMEEEAARLRHEEEERKRKELEVQRQKELMRQRQ
QQQEALRRLQQQQQQQQLAQMKLPSSSTWGQQSNTTACQSQATLSLAEIQKLEEERERQL
REEQRRQQRELMKALQQQQQQQQQKLSGWGNVSKPSGTTKSLLEIQQEEARQMQKQQQQQ
QQHQQPNRARNNTHSNLHTSIGNSVWGSINTGPPNQWASDLVSSIWSNADTKNSNMGFWD
DAVKEVGPRNSTNKNKNNASLSKSVGVSNRQNKKVEEEEKLLKLFQGVNKAQDGFTQWCE
QMLHALNTANNLDVPTFVSFLKEVESPYEVHDYIRAYLGDTSEAKEFAKQFLERRAKQKA
NQQRQQQQLPQQQQQQPPQQPPQQPQQQDSVWGMNHSTLHSVFQTNQSNNQQSNFEAVQS
GKKKKKQKMVRADPSLLGFSVNASSERLNMGEIETLDDY
Sequence length 1299
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Akinesia Akinesia rs606231129, rs606231131, rs606231132, rs118203995, rs606231133, rs104894299, rs104894300, rs786200904, rs786200905, rs104894294, rs121909254, rs121909255, rs121909256, rs150376433, rs863223335
View all (33 more)
Coronary artery disease Coronary Artery Disease rs137852988, rs121918313, rs121918529, rs121918531, rs137852340, rs1555800701, rs1215189537 29212778
Leber congenital amaurosis Leber Congenital Amaurosis, LEBER CONGENITAL AMAUROSIS 16 rs386834252, rs386834253, rs121918165, rs62635288, rs281865192, rs137852833, rs137852834, rs137852835, rs2137919146, rs267606719, rs80044281, rs386834241, rs75895925, rs386834243, rs750962965
View all (532 more)
Neurodevelopmental disorders Neurodevelopmental Disorders rs869312846, rs869312840, rs869312848, rs869312849, rs869312845, rs886041956, rs1064795110, rs1555762734, rs1555764992, rs1568512728, rs1568532361, rs1595472741, rs1595472764, rs1595476797, rs1016320330
View all (2 more)
28191889
Unknown
Disease term Disease name Evidence References Source
Mental depression Depressive disorder ClinVar
Myocardial Infarction Myocardial Infarction GWAS
Mental Depression Mental Depression GWAS
Nasal polyposis Nasal polyposis GWAS
Associations from Text Mining
Disease Name Relationship Type References
Arrest of spermatogenesis Associate 32614269
Autism Spectrum Disorder Associate 27824329
Autistic Disorder Associate 27824329, 30564305
Carcinoma Renal Cell Associate 31098421
Cognition Disorders Associate 26134514
Coronary Artery Disease Associate 28209224
COVID 19 Associate 35878012
Heredodegenerative Disorders Nervous System Associate 30235682
Hypertension Pulmonary Associate 37730603
Infertility Associate 32614269