Format

Send to:

Choose Destination

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

Gene ID: 26058, updated on 8-May-2016
Official Symbol
GIGYF2provided by HGNC
Official Full Name
GRB10 interacting GYF protein 2provided by HGNC
Primary source
HGNC:HGNC:11960
See related
Ensembl:ENSG00000204120 HPRD:11639; MIM:612003
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]
Orthologs
Location:
2q37.1
Exon count:
35
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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 microRNA 5001 Neighboring gene eukaryotic translation initiation factor 4E family member 2 Neighboring gene tigger transposable element derived 1 Neighboring gene uncharacterized LOC105373929 Neighboring gene EF-hand domain family member D1 Neighboring gene eukaryotic translation elongation factor 1 beta 2 pseudogene 7 Neighboring gene potassium voltage-gated channel subfamily J member 13 Neighboring gene chromosome 2 open reading frame 82 Neighboring gene neuronal guanine nucleotide exchange factor Neighboring gene uncharacterized LOC101928881

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
poly(A) RNA binding IDA
Inferred from Direct Assay
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 IEA
Inferred from Electronic Annotation
more info
 
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
 
spinal cord motor neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
membrane IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
PERQ amino acid-rich with GYF domain-containing protein 2
Names
PERQ amino acid rich, with GYF domain 3
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  PERQ amino acid-rich with GYF domain-containing 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, OTTHUMP00000203488, ENST00000373563, 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  PERQ amino acid-rich with GYF domain-containing 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, OTTHUMP00000203487, ENST00000409451, 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  PERQ amino acid-rich with GYF domain-containing 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, OTTHUMP00000203485, ENST00000409196, 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  PERQ amino acid-rich with GYF domain-containing 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, OTTHUMP00000203484, ENST00000409547, 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
  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
  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

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p2 Primary Assembly

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

Alternate CHM1_1.1

Genomic

  1. NC_018913.2 Alternate CHM1_1.1

    Range
    233568065..233731215
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)