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GRID2IP Grid2 interacting protein [ Homo sapiens (human) ]

Gene ID: 392862, updated on 1-Jun-2020

Summary

Official Symbol
GRID2IPprovided by HGNC
Official Full Name
Grid2 interacting proteinprovided by HGNC
Primary source
HGNC:HGNC:18464
See related
Ensembl:ENSG00000215045 MIM:610639
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

Genomic context

See GRID2IP in Genome Data Viewer
Location:
7p22.1
Exon count:
23
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (6496778..6551436, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (6536409..6591067, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene KDEL endoplasmic reticulum protein retention receptor 2 Neighboring gene ribosomal protein L31 pseudogene 34 Neighboring gene uncharacterized LOC101927325 Neighboring gene zinc finger DHHC-type palmitoyltransferase 4 Neighboring gene chromosome 7 open reading frame 26

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
long-term synaptic depression IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

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)

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_001145118.1NP_001138590.1  delphilin

    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
    Related
    ENSP00000397351.2, ENST00000457091.2
    Conserved Domains (4) summary
    cd00992
    Location:278353
    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:133212
    HN_L-delphilin-R1_like; first harmonin_N_like domain (repeat 1) of L-delphilin, and related domains
    cd07355
    Location:389468
    HN_L-delphilin-R2_like; second harmonin_N_like domain (repeat 2) of L-delphilin, and related domains
    pfam02181
    Location:8201188
    FH2; Formin Homology 2 Domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    6496778..6551436 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011515404.2XP_011513706.1  delphilin isoform X1

    UniProtKB/TrEMBL
    C9JNS8
    Related
    ENSP00000408364.1, ENST00000435185.5
    Conserved Domains (4) summary
    cd00992
    Location:95170
    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:206285
    HN_L-delphilin-R2_like; second harmonin_N_like domain (repeat 2) of L-delphilin, and related domains
    pfam02181
    Location:6361004
    FH2; Formin Homology 2 Domain
    cl11968
    Location:1229
    harmonin_N_like; N-terminal protein-binding module of harmonin and similar domains, also known as HHD (harmonin homology domain)
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