GRID2IP Grid2 interacting protein [Homo sapiens (human)] - Gene

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; 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

Location:: 7p22.1

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (6496778..6551461, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (6616017..6670725, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (6536409..6591092, complement)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.

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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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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)

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
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
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