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

    Gene ID: 26058, updated on 9-Jul-2017
    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]
    Orthologs
    Location:
    2q37.1
    Exon count:
    35
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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 chromosome 2 open reading frame 82 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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cadherin binding IDA
    Inferred from Direct Assay
    more info
    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    perikaryon IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein 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 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p7 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)
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