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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
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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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