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    GRID2IP Grid2 interacting protein [ Homo sapiens (human) ]

    Gene ID: 392862, updated on 7-Apr-2024

    Summary

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    Official Symbol
    GRID2IPprovided by HGNC
    Official Full Name
    Grid2 interacting proteinprovided by HGNC
    Primary source
    HGNC:HGNC:18464
    See related
    Ensembl:ENSG00000215045 MIM:610639; AllianceGenome:HGNC:18464
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DELPHILIN
    Summary
    Glutamate receptor delta-2 (GRID2; MIM 602368) is predominantly expressed at parallel fiber-Purkinje cell postsynapses and plays crucial roles in synaptogenesis and synaptic plasticity. GRID2IP1 interacts with GRID2 and may control GRID2 signaling in Purkinje cells (Matsuda et al., 2006 [PubMed 16835239]).[supplied by OMIM, Mar 2008]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    7p22.1
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (6496778..6551461, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (6616017..6670725, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (6536409..6591092, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene KDEL endoplasmic reticulum protein retention receptor 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25625 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25626 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17943 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17944 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17945 Neighboring gene ribosomal protein L31 pseudogene 34 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17946 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17947 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17948 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17949 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17950 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25627 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25629 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25628 Neighboring gene uncharacterized LOC101927325 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17951 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25630 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17952 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:6576361-6577340 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17953 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:6617713-6618328 Neighboring gene uncharacterized LOC124901582 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:6628794-6629632 Neighboring gene zinc finger DHHC-type palmitoyltransferase 4 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:6637314-6637506 Neighboring gene Sharpr-MPRA regulatory region 9377 Neighboring gene integrator complex subunit 15

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. The neuron-specific formin Delphilin nucleates nonmuscle actin but does not enhance elongation. Silkworth WT, et al. Mol Biol Cell, 2018 Mar 1. PMID 29282276, Free PMC Article
    2. Identification and characterization of human GRID2IP gene and rat Grid2ip gene in silico. Katoh M, et al. Int J Mol Med, 2003 Dec. PMID 14612983
    3. Binding of glutamate receptor delta2 to its scaffold protein, Delphilin, is regulated by PKA. Sonoda T, et al. Biochem Biophys Res Commun, 2006 Nov 24. PMID 17027646
    4. Characterization of the delta2 glutamate receptor-binding protein delphilin: Splicing variants with differential palmitoylation and an additional PDZ domain. Matsuda K, et al. J Biol Chem, 2006 Sep 1. PMID 16835239
    5. Exploring the genetics of irritable bowel syndrome: a GWA study in the general population and replication in multinational case-control cohorts. Ek WE, et al. Gut, 2015 Nov. PMID 25248455

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Grid2 interacting protein is a potential biomarker related to immune infiltration in colorectal cancer.
      Title: Grid2 interacting protein is a potential biomarker related to immune infiltration in colorectal cancer.
    2. Delphilin is an actin nucleator that does not accelerate elongation. Delphilin exhibits a preference for actin isoforms, nucleating nonmuscle actin but not muscle actin.
      Title: The neuron-specific formin Delphilin nucleates nonmuscle actin but does not enhance elongation.
    3. delphilin isoforms with differential palmitoylation and clustering capabilities may provide two separate intracellular and surface GluRdelta2 pools and may control GluRdelta2 signaling in Purkinje cells
      Title: Characterization of the delta2 glutamate receptor-binding protein delphilin: Splicing variants with differential palmitoylation and an additional PDZ domain.
    4. Thus, phosphorylation of -2T and/or -1S of GluRdelta2 C-terminus by PKA may regulate the binding of GluRdelta2 to its scaffolding protein, Delphilin.
      Title: Binding of glutamate receptor delta2 to its scaffold protein, Delphilin, is regulated by PKA.
    Submit: New GeneRIF Correction

    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

    EBI GWAS Catalog

    Description
    Exploring the genetics of irritable bowel syndrome: a GWA study in the general population and replication in multinational case-control cohorts.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in long-term synaptic depression IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of postsynaptic cytosolic calcium ion concentration IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of postsynaptic membrane neurotransmitter receptor levels IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cerebellar granule cell to Purkinje cell synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in parallel fiber to Purkinje cell synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in postsynaptic density, intracellular component IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in postsynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    delphilin
    Names
    glutamate receptor, ionotropic, delta 2 (Grid2) interacting protein 1
    glutamate receptor, ionotropic, delta 2-interacting protein 1

    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.

    mRNA and Protein(s)

    1. NM_001145118.2 → NP_001138590.1  delphilin isoform 1

      See identical proteins and their annotated locations for NP_001138590.1

      Status: VALIDATED

      Source sequence(s)
      AC072052
      Consensus CDS
      CCDS47537.1
      UniProtKB/Swiss-Prot
      A4D2P6
      UniProtKB/TrEMBL
      C9JNS8
      Related
      ENSP00000397351.2, ENST00000457091.3
      Conserved Domains (4) summary
      cd00992
      Location:278 → 353
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd07354
      Location:133 → 212
      HN_L-delphilin-R1_like; first harmonin_N_like domain (repeat 1) of L-delphilin, and related domains
      cd07355
      Location:389 → 468
      HN_L-delphilin-R2_like; second harmonin_N_like domain (repeat 2) of L-delphilin, and related domains
      pfam02181
      Location:820 → 1188
      FH2; Formin Homology 2 Domain

    2. NM_001388403.1 → NP_001375332.1  delphilin isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC072052
      Consensus CDS
      CCDS94054.1
      UniProtKB/TrEMBL
      C9J5F6, C9JNS8
      Related
      ENSP00000397887.1, ENST00000452113.5
      Conserved Domains (4) summary
      PHA03307
      Location:285 → 488
      PHA03307; transcriptional regulator ICP4; Provisional
      cd00992
      Location:88 → 163
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd07355
      Location:199 → 278
      HN_L-delphilin-R2_like; second harmonin_N_like domain (repeat 2) of L-delphilin, and related domains
      pfam02181
      Location:629 → 997
      FH2; Formin Homology 2 Domain

    3. NM_001394781.1 → NP_001381710.1  delphilin isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC072052
      UniProtKB/TrEMBL
      C9JNS8
      Related
      ENSP00000408364.1, ENST00000435185.5
      Conserved Domains (5) summary
      PHA03307
      Location:292 → 496
      PHA03307; transcriptional regulator ICP4; Provisional
      cd00992
      Location:95 → 170
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd07355
      Location:206 → 285
      HN_L-delphilin-R2_like; second harmonin_N_like domain (repeat 2) of L-delphilin, and related domains
      cl11968
      Location:12 → 29
      harmonin_N_like; N-terminal protein-binding module of harmonin and similar domains, also known as HHD (harmonin homology domain)
      cl19758
      Location:648 → 1013
      FH2; Formin Homology 2 Domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      6496778..6551461 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047420365.1 → XP_047276321.1  delphilin isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      6616017..6670725 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054358205.1 → XP_054214180.1  delphilin isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A4D2P6.2 GenPept UniProtKB/Swiss-Prot:A4D2P6

    Gene LinkOut

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