Format

Send to:

Choose Destination

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

Gene ID: 26058, updated on 8-Jul-2018
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; Vega:OTTHUMG00000153237
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
See GIGYF2 in Genome Data Viewer
Location:
2q37.1
Exon count:
35
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (232697305..232860577)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (233562015..233725287)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373929 Neighboring gene EF-hand domain family member D1 Neighboring gene RNA, 7SL, cytoplasmic 359, pseudogene Neighboring gene eukaryotic translation elongation factor 1 beta 2 pseudogene 7 Neighboring gene potassium voltage-gated channel subfamily J member 13 Neighboring gene RNA, U6 small nuclear 107, pseudogene Neighboring gene secondary ossification center associated regulator of chondrocyte maturation Neighboring gene neuronal guanine nucleotide exchange factor Neighboring gene uncharacterized LOC101928881

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Parkinson disease 11
MedGen: C1843211 OMIM: 607688 GeneReviews: Parkinson Disease Overview
Compare labs

NHGRI GWAS Catalog

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

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

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ23368, KIAA0642, DKFZp686I15154, DKFZp686J17223

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding HDA PubMed 
cadherin binding HDA PubMed 
proline-rich region binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
adult locomotory behavior IEA
Inferred from Electronic Annotation
more info
 
cellular protein metabolic process IEA
Inferred from Electronic Annotation
more info
 
feeding behavior IEA
Inferred from Electronic Annotation
more info
 
homeostasis of number of cells within a tissue IEA
Inferred from Electronic Annotation
more info
 
insulin-like growth factor receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
mRNA destabilization IDA
Inferred from Direct Assay
more info
PubMed 
mitotic G1 DNA damage checkpoint IEA
Inferred from Electronic Annotation
more info
 
multicellular organism growth IEA
Inferred from Electronic Annotation
more info
 
musculoskeletal movement IEA
Inferred from Electronic Annotation
more info
 
negative regulation of translation IMP
Inferred from Mutant Phenotype
more info
PubMed 
neuromuscular process controlling balance IEA
Inferred from Electronic Annotation
more info
 
post-embryonic development IEA
Inferred from Electronic Annotation
more info
 
posttranscriptional gene silencing IDA
Inferred from Direct Assay
more info
PubMed 
spinal cord motor neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasmic stress granule IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endosome IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane HDA PubMed 
perikaryon IDA
Inferred from Direct Assay
more info
PubMed 
protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 
proximal dendrite IDA
Inferred from Direct Assay
more info
PubMed 
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

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

  1. NG_011847.1 RefSeqGene

    Range
    5001..168273
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001103146.1NP_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, BC146775, BE220828, BG527686, BX538321, DC346582
    Consensus CDS
    CCDS33401.1
    UniProtKB/Swiss-Prot
    Q6Y7W6
    Related
    ENSP00000362664.4, OTTHUMP00000203488, ENST00000373563.8, OTTHUMT00000330321
    Conserved Domains (1) summary
    cd00072
    Location:533588
    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.
  2. NM_001103147.1NP_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/Swiss-Prot
    Q6Y7W6
    Related
    ENSP00000387170.3, OTTHUMP00000203487, ENST00000409451.7, OTTHUMT00000330320
    Conserved Domains (1) summary
    cd00072
    Location:554609
    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.
  3. NM_001103148.1NP_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/Swiss-Prot
    Q6Y7W6
    Related
    ENSP00000387070.3, OTTHUMP00000203485, ENST00000409196.7, OTTHUMT00000330318
    Conserved Domains (1) summary
    cd00072
    Location:527582
    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.
  4. NM_015575.3NP_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, BG527686
    Consensus CDS
    CCDS33401.1
    UniProtKB/Swiss-Prot
    Q6Y7W6
    Related
    ENSP00000386537.1, OTTHUMP00000203484, ENST00000409547.5, OTTHUMT00000330316
    Conserved Domains (1) summary
    cd00072
    Location:533588
    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

  1. 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
  2. NR_103493.1 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
  3. NR_103494.1 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
  4. NR_103495.1 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

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    232697305..232860577
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center