GIGYF2 GRB10 interacting GYF protein 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GIGYF2provided by HGNC
Official Full Name: GRB10 interacting GYF protein 2provided by HGNC
Primary source: HGNC:HGNC:11960
See related: Ensembl:ENSG00000204120 MIM:612003; AllianceGenome:HGNC:11960
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: GYF2; PERQ2; PERQ3; PARK11; TNRC15
Summary: 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 region that was genetically linked to Parkinson disease type 11, and mutations in this gene were thought to be causative for this disease. However, more recent studies in different populations have been unable to replicate this association. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
Expression: Ubiquitous expression in testis (RPKM 16.1), thyroid (RPKM 9.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q37.1

Exon count:: 35

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (232697331..232860605)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (233184093..233347291)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (233562041..233725315)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Translational repression of NMD targets by GIGYF2 and EIF4E2.
Title: Translational repression of NMD targets by GIGYF2 and EIF4E2.
Association study of DNAJC13, UCHL1, HTRA2, GIGYF2, and EIF4G1 with Parkinson's disease.
Title: Association study of DNAJC13, UCHL1, HTRA2, GIGYF2, and EIF4G1 with Parkinson's disease.
4EHP and GIGYF1/2 Mediate Translation-Coupled Messenger RNA Decay.
Title: 4EHP and GIGYF1/2 Mediate Translation-Coupled Messenger RNA Decay.
GIGYF2 and 4EHP Inhibit Translation Initiation of Defective Messenger RNAs to Assist Ribosome-Associated Quality Control.
Title: GIGYF2 and 4EHP Inhibit Translation Initiation of Defective Messenger RNAs to Assist Ribosome-Associated Quality Control.
GIGYF2 has two distinct mechanisms of repression: one depends on 4EHP binding and mainly affects translation; the other is 4EHP-independent and involves the CCR4/NOT complex and its deadenylation activity.
Title: 4EHP-independent repression of endogenous mRNAs by the RNA-binding protein GIGYF2.
genetic analyses of indel loci in ACE, DJ-1, and GIGYF2 genes, was performed to explore the potential contribution of insertion (I)/deletion (D) polymorphisms (indels) to the risk of PD in a Chinese population.
Title: Genetic analysis of indel markers in three loci associated with Parkinson's disease.
Full-length GIGYF2 coimmunoprecipitates with AGO2 in human cells, and upon tethering to a reporter mRNA, GIGYF2 exhibits strong, dose-dependent silencing activity, involving both mRNA destabilization and translational repression.
Title: Post-transcriptional gene silencing activity of human GIGYF2.
required, this finding may shed light on the GIGYF2-associated mechanisms that lead to PD and suggests insulin dysregulation as a disease-specific mechanism for both PD and cognitive dysfunction.
Title: GIGYF2 mutation in late-onset Parkinson's disease with cognitive impairment.
Results suggest that the N56S and N457T of GIGYF2 are risk factors for Parkinson's disease in Caucasians, but not in Asians
Title: The contribution of GIGYF2 to Parkinson's disease: a meta-analysis.
GIGYF2 and the zinc finger protein 598 (ZNF598) are identified as components of the 4EHP complex.
Title: A novel 4EHP-GIGYF2 translational repressor complex is essential for mammalian development.

Submit: New GeneRIF Correction See all GeneRIFs (33)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Parkinson disease 11, autosomal dominant, susceptibility to MedGen: C4083045 OMIM: 607688 GeneReviews: Parkinson Disease Overview	Compare labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2022-08-24) ClinGen Genome Curation Page Haploinsufficency Little evidence for dosage pathogenicity (Last evaluated 2022-08-24) ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analysis identifies 13 new risk loci for schizophrenia. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Pr55(Gag)	gag	Cellular biotinylated GRB10 interacting GYF protein 2 (GIGYF2, PERQ2) is incorporated into HIV-1 Gag virus-like particles	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WIAF-2198 (e-PCR)
- UniSTS:22314

G59437 (e-PCR)
- UniSTS:136747

TNRC15__5112 (e-PCR)
- UniSTS:466520

RH94296 (e-PCR)
- UniSTS:87141

D2S206 (e-PCR), detects polymorphism
- UniSTS:76156

STS-Z40945 (e-PCR)
- UniSTS:18579

RH68362 (e-PCR)
- UniSTS:24220

D2S206 (e-PCR), detects polymorphism
- UniSTS:10199

SHGC-33096 (e-PCR)
- UniSTS:1758

RH94056 (e-PCR)
- UniSTS:89577

Clone Names

FLJ23368, KIAA0642, DKFZp686I15154, DKFZp686J17223

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables cadherin binding	HDA more info	PubMed
enables molecular adaptor activity	IDA Inferred from Direct Assay more info	PubMed
enables proline-rich region binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in adult locomotory behavior	IEA Inferred from Electronic Annotation more info
involved_in feeding behavior	IEA Inferred from Electronic Annotation more info
involved_in homeostasis of number of cells within a tissue	IEA Inferred from Electronic Annotation more info
involved_in insulin-like growth factor receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in insulin-like growth factor receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mRNA destabilization	IDA Inferred from Direct Assay more info	PubMed
involved_in mitotic G1 DNA damage checkpoint signaling	IEA Inferred from Electronic Annotation more info
involved_in multicellular organism growth	IEA Inferred from Electronic Annotation more info
involved_in musculoskeletal movement	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within negative regulation of translation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of translational initiation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of type I interferon-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in neuromuscular process controlling balance	IEA Inferred from Electronic Annotation more info
involved_in post-embryonic development	IEA Inferred from Electronic Annotation more info
involved_in post-transcriptional gene silencing	IDA Inferred from Direct Assay more info	PubMed
involved_in rescue of stalled ribosome	IDA Inferred from Direct Assay more info	PubMed
involved_in spinal cord motor neuron differentiation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasmic stress granule	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in endosome	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	HDA more info	PubMed
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in perikaryon	IBA Inferred from Biological aspect of Ancestor more info
located_in perikaryon	IDA Inferred from Direct Assay more info	PubMed
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed
is_active_in proximal dendrite	IBA Inferred from Biological aspect of Ancestor more info
located_in proximal dendrite	IDA Inferred from Direct Assay more info	PubMed
is_active_in vesicle	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: GRB10-interacting GYF protein 2

Names: 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

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_011847.1 RefSeqGene

Range

5027..168301

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001103146.3 → NP_001096616.1 GRB10-interacting GYF protein 2 isoform b

See identical proteins and their annotated locations for NP_001096616.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an alternate exon in the 5' UTR and lacks an exon in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (b) is shorter than isoform a. Both variants 2 and 3 encode the same isoform (b).

Source sequence(s)

AC016692, AK001739, BC008072, BX537885, BX538321

Consensus CDS

CCDS33401.1

UniProtKB/Swiss-Prot

A6H8W4, B9EG55, E9PBB0, O75137, Q6Y7W6, Q7Z2Z8, Q7Z3I2, Q96HU4, Q9NV82

UniProtKB/TrEMBL

I1E4Y6

Related

ENSP00000362664.5, ENST00000373563.9

Conserved Domains (1) summary

cd00072
Location:533 → 588

GYF; GYF domain: contains conserved Gly-Tyr-Phe residues; Proline-binding domain in CD2-binding and other proteins. Involved in signaling lymphocyte activity. Also present in other unrelated proteins (mainly unknown) derived from diverse eukaryotic species.
NM_001103147.2 → NP_001096617.1 GRB10-interacting GYF protein 2 isoform a

See identical proteins and their annotated locations for NP_001096617.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (a).

Source sequence(s)

AC016692, BC146775, BE220828, BG527686

Consensus CDS

CCDS46542.1

UniProtKB/TrEMBL

I1E4Y6

Related

ENSP00000387170.3, ENST00000409451.7

Conserved Domains (1) summary

cd00072
Location:554 → 609

GYF; GYF domain: contains conserved Gly-Tyr-Phe residues; Proline-binding domain in CD2-binding and other proteins. Involved in signaling lymphocyte activity. Also present in other unrelated proteins (mainly unknown) derived from diverse eukaryotic species.
NM_001103148.2 → NP_001096618.1 GRB10-interacting GYF protein 2 isoform c

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks two alternate exons in the 5' UTR, and lacks an exon and uses an alternate splice site in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (c) is shorter than isoform a.

Source sequence(s)

AC016692, BC146775, BE220828, BG527686, BX538172

Consensus CDS

CCDS46543.1

UniProtKB/TrEMBL

I1E4Y6

Related

ENSP00000387070.3, ENST00000409196.7

Conserved Domains (1) summary

cd00072
Location:527 → 582

GYF; GYF domain: contains conserved Gly-Tyr-Phe residues; Proline-binding domain in CD2-binding and other proteins. Involved in signaling lymphocyte activity. Also present in other unrelated proteins (mainly unknown) derived from diverse eukaryotic species.
NM_015575.4 → NP_056390.2 GRB10-interacting GYF protein 2 isoform b

See identical proteins and their annotated locations for NP_056390.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains an alternate exon in the 5' UTR and lacks an exon in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (b) is shorter than isoform a. Both variants 2 and 3 encode the same isoform (b).

Source sequence(s)

AC016692, AY176045, BC146775, BE220828

Consensus CDS

CCDS33401.1

UniProtKB/Swiss-Prot

A6H8W4, B9EG55, E9PBB0, O75137, Q6Y7W6, Q7Z2Z8, Q7Z3I2, Q96HU4, Q9NV82

UniProtKB/TrEMBL

I1E4Y6

Related

ENSP00000386537.1, ENST00000409547.5

Conserved Domains (1) summary

cd00072
Location:533 → 588

GYF; GYF domain: contains conserved Gly-Tyr-Phe residues; Proline-binding domain in CD2-binding and other proteins. Involved in signaling lymphocyte activity. Also present in other unrelated proteins (mainly unknown) derived from diverse eukaryotic species.

RNA

NR_103492.1 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (5) lacks three 5' exons, contains an alternate 5' exon, and lacks two internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC016692, AY176045, BC143352, BC146775, BE220828
NR_103493.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (6) contains two alternate exons in the 5' region, lacks multiple 3' exons, and contains an alternate 3' exon, compared to variant 1. This variant is represented as non-coding because it lacks almost the entire coding region found in variant 1.

Source sequence(s)

BC093090, BC108691, BG527686

Related

ENST00000482666.5
NR_103494.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (7) contains an alternate exon in the 5' region, lacks multiple 3' exons, and contains an alternate 3' exon, compared to variant 1. This variant is represented as non-coding because it lacks almost the entire coding region found in variant 1.

Source sequence(s)

BC029456, BC108691, BG527686

Related

ENST00000464805.5
NR_103495.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (8) lacks multiple 3' exons and contains an alternate 3' exon, compared to variant 1. This variant is represented as non-coding because it lacks almost the entire coding region found in variant 1.

Source sequence(s)

BC108691, BG527686

Related

ENST00000489328.1