AutismKB 2.0

Annotation Details for GIGYF2


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Basic Information Top
Gene Symbol:GIGYF2 ( DKFZp686I15154,DKFZp686J17223,FLJ23368,GYF2,KIAA0642,PARK11,PERQ2,PERQ3,TNRC15 )
Gene Full Name: GRB10 interacting GYF protein 2
Band: 2q37.1
Quick LinksEntrez ID:26058; OMIM: 612003; Uniprot ID:PERQ2_HUMAN; ENSEMBL ID: ENSG00000204120; HGNC ID: 11960
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005768IDA-endosome20670374
GO:0005783IDA-endoplasmic reticulum20696395
GO:0005794IDA-Golgi apparatus20696395
GO:0005829IDA-cytosol-
GO:0010494IDA-cytoplasmic stress granule20696395
GO:0016020IDA-membrane19946888
GO:0016021IEA-integral component of membrane-
GO:0043204IDA-perikaryon20670374
GO:1990635IDA-proximal dendrite20670374
GO ID Evidence Qualifier GO_term References
GO:0003723IDA-RNA binding22681889
GO:0005515IPI-protein binding20670374
GO:0045296IDA-cadherin binding25468996
GO:0070064IDA-proline-rich region binding20696395
GO ID Evidence Qualifier GO_term References
GO:0007631IEA-feeding behavior-
GO:0008344IEA-adult locomotory behavior-
GO:0009791IEA-post-embryonic development-
GO:0016441IDA-posttranscriptional gene silencing27157137
GO:0017148IMP-negative regulation of translation22751931
GO:0021522IEA-spinal cord motor neuron differentiation-
GO:0031571IEA-mitotic G1 DNA damage checkpoint-
GO:0035264IEA-multicellular organism growth-
GO:0044267IEA-cellular protein metabolic process-
GO:0048009IMP-insulin-like growth factor receptor signaling pathway20670374
GO:0048873IEA-homeostasis of number of cells within a tissue-
GO:0050881IEA-musculoskeletal movement-
GO:0050885IEA-neuromuscular process controlling balance-
GO:0061157IDA-mRNA destabilization27157137
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
GIGYF2APC10682120936779 Two-hybrid
GIGYF2APC11752020936779 Two-hybrid
GIGYF2ATN111752020696395 Affinity Capture-MS
GIGYF2ATN110815620696395 Affinity Capture-MS
GIGYF2ELAVL111752020696395 Affinity Capture-MS
GIGYF2ELAVL110830920696395 Affinity Capture-MS
GIGYF2GRB1011752012771153 Two-hybrid
GIGYF2GRB1010914412771153 Two-hybrid
GIGYF2CAPRIN111752020696395 Affinity Capture-MS
GIGYF2CAPRIN111025220696395 Affinity Capture-MS
GIGYF2YBX111752020696395 Affinity Capture-MS
GIGYF2YBX111095920696395 Affinity Capture-MS
GIGYF2SMN111249020696395 Affinity Capture-MS
GIGYF2SMN111752020696395 Affinity Capture-MS
GIGYF2FXR111376020696395 Affinity Capture-MS
GIGYF2FXR111752020696395 Affinity Capture-MS
GIGYF2USP1111386619615732 Affinity Capture-MS
GIGYF2USP1111752019615732 Affinity Capture-MS
GIGYF2G3BP111544820696395 Affinity Capture-MS
GIGYF2G3BP111752020696395 Affinity Capture-MS
GIGYF2PRPF811584220696395 Affinity Capture-MS
GIGYF2PRPF811752020696395 Affinity Capture-MS
GIGYF2SF3B211752020696395 Affinity Capture-MS
GIGYF2SF3B211618820696395 Affinity Capture-MS
GIGYF2DDX2011638720696395 Affinity Capture-MS
GIGYF2DDX2011752020696395 Affinity Capture-MS
GIGYF2U2AF211752020696395 Affinity Capture-MS
GIGYF2U2AF211646620696395 Affinity Capture-MS
GIGYF2TNRC6B11673520696395 Affinity Capture-MS
GIGYF2TNRC6B11752020696395 Affinity Capture-MS
GIGYF2PRPF611729820696395 Affinity Capture-MS
GIGYF2PRPF611752020696395 Affinity Capture-MS
U2AF1L4GIGYF212827020696395 Affinity Capture-MS
U2AF1L4GIGYF211752020696395 Affinity Capture-MS
PABPC1GIGYF211793920696395 Affinity Capture-MS
PABPC1GIGYF211752020696395 Affinity Capture-MS
EIF2C2GIGYF211752020696395 Affinity Capture-MS
EIF2C2GIGYF211804120696395 Affinity Capture-MS
GEMIN4GIGYF211752020696395 Affinity Capture-MS
GEMIN4GIGYF211910220696395 Affinity Capture-MS
No data
No data
AlzGene, PDGene and SZGene Top
No data
Gene Symbol Poly Names Gene overview in PDGene
GIGYF2GIGYF2_180-181delCA, GIGYF2_Ala99Ala, GIGYF2_DEL9, GIGYF2_P1155T, GIGYF2_P423L, GIGYF2_polyQ(Ex25), rs10211596, rs10555297, rs11555646, rs11689661, rs12328151, rs12463466, rs1515961, rs2197563, rs2289912, rs2305137, rs2305138, rs283474, rs3217559, rs34424361, rs3816334, rs6704768, rs6751801, rs7563724, rs7602140, rs8192539, rs921055, rs9288676 Gene overview in PDGene
No data
Animal Model Top
  • MGI ID: MGI:2138584
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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