GIGYF2 |
- 1
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- GIGYF2 (HGNC:11960) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- GRB10 interacting GYF protein 2
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- PERQ2, PERQ3, TNRC15, PARK11
- Alias symbols
- KIAA0642, GYF2
- %HI
- 14.01(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 1(Read more about gnomAD pLI score)
- LOEUF
- 0.08(Read more about gnomAD LOEUF score)
- Cytoband
- 2q37.1
- Genomic Coordinates
-
GRCh37/hg19: chr2:233562041-233725315 NCBI Ensembl UCSC GRCh38/hg38: chr2:232697331-232860605 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001103146.3 ENST00000373563.9 (Read more about MANE Select)
- 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, linking translation repression with mRNA decay (PubMed:31439631). Also recruits and bridges the association of the 4EHP complex with the decapping effector protein DDX6, which is required for the ZFP36/TTP-mediated down-regulation of AU-rich mRNA (PubMed:3... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-17039
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Little Evidence for Haploinsufficiency
(1)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
08/24/2022
Haploinsufficiency (HI) Score Details
HI Score:
1
HI Evidence Strength:
Little Evidence for Haploinsufficiency
(Disclaimer)
HI Disease:
- Complex Neurodevelopmental Disorder Monarch
HI Evidence:
-
PUBMED:
25170348
Gazzellone et. al. 2014 tested 104 autism spectrum disorder probands and their parents who were recruited from Harbin, China. Samples were genotyped on the Affymetrix CytoScan HD platform. Rare CNVs were identified by comparing data with 873 technology-matched controls from Ontario and 1,235 additional population controls of Han Chinese ethnicity. Sample ID 683-3 carried a de novo 22kb deletion contains 7 exons (exons 11-17 of the longest transcript) of GIGYF2 gene (chr2(GRCh37): 233,651,280-233,673,273).
-
PUBMED:
25363768
Iossifov et al. 2014. This group sequenced exomes from more than 2,500 simplex families (Simons Simplex Collection: probands in the current sample exhibit moderate to severe autistic symptoms with relatively little intellectual disability). In family 14533, a de novo variant chr2(GRCh37):g.233675982:C>T, NM_001103146.3: c.1927C>T (p.Q643*) nonsense mutation was identified (not seen in gnomad).
-
PUBMED:
27824329
Wang et al. 2016. This group sequenced 189 risk genes in 1,543 Chinese autism spectrum disorder probands (1,045 from trios). A de novo nonsense mutation (chr2(GRCh37):g.233655745G>T, NM_001103146.1:c.958G>T, p.Glu320*) in GIGYF2 was identified in proband M23762. The patient with a GIGYF2 de novo variant also has mild ID and macrocephaly. A non-maternally inherited frame-shift mutation (Chr2(GRCh37):g.233709081_233709092del, NM_001103146.1:c.3102_3113del, p.Ser1035_His1038del) in GIGYF2 was identified in proband M15067.
-
PUBMED:
28714951
Lim et al. (2017) reported a de novo nonsense mutation chr2(GRCh37):233684582C>T, NM_001103146.3: c.2416C>T (p.R806*) in an individual with autism spectrum disorder who underwent trio exome sequencing analysis previously. Individuals reported by Lim et al. were part of 5,947 exome sequencing trios previously sequenced by the Autism Sequencing Consortium (ASC) and Simons Simplex Collection (SSC).
HI Evidence Comments:
At least four de novo loss-of-function variants have been reported in patients with ASD in three studies; however, given the non-specific phenotype, and the possible additional assocation with Parkinson's disease (see OMIM for additional information), more evidence is required to determine the role of haploinsufficiency in this gene.
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000002.11)
(NC_000002.12)