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Cellular Component
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Analyze GeneStrainQTL List |
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![]() Biological Process Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | long-term synaptic depression | | IEA | UniProtKB:Q0QWG9, ensembl:ENSMUSP00000106361 | 2290271 | | Ensembl | GO_REF:0000107 | |
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GRID2IP (Homo sapiens - human) |
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Grid2ip (Mus musculus - house mouse) |
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Grid2ip (Rattus norvegicus - Norway rat) |
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Grid2ip (Chinchilla lanigera - long-tailed chinchilla) |
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GRID2IP (Pan paniscus - bonobo/pygmy chimpanzee) |
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GRID2IP (Canis lupus familiaris - dog) |
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Grid2ip (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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GRID2IP (Sus scrofa - pig) |
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The detailed report is available here: | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
RefSeq Transcripts | NM_001145118 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_011515404 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC072052 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
CH236963 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KF458361 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | NM_001145118 ⟹ NP_001138590 | ||||||||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
ATGGCCACCACTGCCACGCCGGCCACGAACCAGGGCTGGCCAGAGGACTTTGGCTTCCGGCTAGhide sequence |
RefSeq Acc Id: | XM_011515404 ⟹ XP_011513706 | |||||||||
RefSeq Status: | ||||||||||
Type: | CODING | |||||||||
Position: |
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Sequence: |
CTGCCGCGCCGCGGTCCCCGGCTCCAGATGGGGAAGGACCAGGGCTTCTCTCGGCACTTTCGGAhide sequence |
Protein RefSeqs | NP_001138590 | (Get FASTA) | NCBI Sequence Viewer |
XP_011513706 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | A4D2P6 | (Get FASTA) | NCBI Sequence Viewer |
EAL23724 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_001138590 ⟸ NM_001145118 |
- UniProtKB: | A4D2P6 (UniProtKB/Swiss-Prot) |
- Sequence: |
MATTATPATNQGWPEDFGFRLGGSGPCFVLEVAKGSSAHAGGLRPGDQILEVEGLAVGGLSRERhide sequence |
RefSeq Acc Id: | XP_011513706 ⟸ XM_011515404 |
- Peptide Label: | isoform X1 |
- UniProtKB: | C9JNS8 (UniProtKB/TrEMBL) |
- Sequence: |
MGKDQGFSRHFRIFIPKKHRARFDEVVSQGLLGKLCRARRAQGAQRLRRSRSEERPERLLVSTRhide sequence |
RGD ID: | 6813188 | |||||||||
Promoter ID: | HG_ACW:71383 | |||||||||
Type: | CpG-Island | |||||||||
SO ACC ID: | SO:0000170 | |||||||||
Source: | MPROMDB | |||||||||
Tissues & Cell Lines: | CD4+TCell_12Hour, HeLa_S3, K562, Lymphoblastoid, NB4 | |||||||||
Transcripts: | GRID2IP.AAPR07 | |||||||||
Position: |
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RGD ID: | 6805737 | |||||||||
Promoter ID: | HG_KWN:56229 | |||||||||
Type: | CpG-Island | |||||||||
SO ACC ID: | SO:0000170 | |||||||||
Source: | MPROMDB | |||||||||
Tissues & Cell Lines: | CD4+TCell_12Hour, Jurkat, Lymphoblastoid | |||||||||
Transcripts: | OTTHUMT00000340537 | |||||||||
Position: |
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Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 7p22.1-21.3(chr7:6106402-11012657)x1 | copy number loss | Global developmental delay [RCV000050923]|See cases [RCV000050923] | Chr7:6106402..11012657 [GRCh38] Chr7:6146033..11052284 [GRCh37] Chr7:6112559..11018809 [NCBI36] Chr7:7p22.1-21.3 |
pathogenic |
GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3 | copy number gain | Global developmental delay [RCV000051159]|See cases [RCV000051159] | Chr7:54185..41875885 [GRCh38] Chr7:54185..41915483 [GRCh37] Chr7:149268..41882008 [NCBI36] Chr7:7p22.3-14.1 |
pathogenic |
GRCh38/hg38 7p22.1(chr7:5062000-6692258)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052256]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052256]|See cases [RCV000052256] | Chr7:5062000..6692258 [GRCh38] Chr7:5101631..6731889 [GRCh37] Chr7:5068157..6698414 [NCBI36] Chr7:7p22.1 |
pathogenic |
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 | copy number loss | Ambiguous genitalia [RCV000052250]|See cases [RCV000052250] | Chr7:53985..159282531 [GRCh38] Chr7:53985..159075220 [GRCh37] Chr7:149068..158767981 [NCBI36] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh38/hg38 7p22.3-15.3(chr7:53985-24361531)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053528]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053528]|See cases [RCV000053528] | Chr7:53985..24361531 [GRCh38] Chr7:53985..24401150 [GRCh37] Chr7:149068..24367675 [NCBI36] Chr7:7p22.3-15.3 |
pathogenic |
GRCh38/hg38 7p22.3-21.3(chr7:54185-8274834)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053529]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053529]|See cases [RCV000053529] | Chr7:54185..8274834 [GRCh38] Chr7:54185..8314464 [GRCh37] Chr7:149268..8280989 [NCBI36] Chr7:7p22.3-21.3 |
pathogenic |
GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053530]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053530]|See cases [RCV000053530] | Chr7:54185..37089712 [GRCh38] Chr7:54185..37129317 [GRCh37] Chr7:149268..37095842 [NCBI36] Chr7:7p22.3-14.2 |
pathogenic |
GRCh37/hg19 7p22.3-21.3(chr7:2789546-9066894)x3 | copy number gain | See cases [RCV000515563] | Chr7:2789546..9066894 [GRCh37] Chr7:7p22.3-21.3 |
pathogenic |
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 | copy number loss | See cases [RCV000135401] | Chr7:54185..159282390 [GRCh38] Chr7:54185..159075079 [GRCh37] Chr7:149268..158767840 [NCBI36] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3 | copy number gain | See cases [RCV000136557] | Chr7:54185..26827634 [GRCh38] Chr7:54185..26867253 [GRCh37] Chr7:149268..26833778 [NCBI36] Chr7:7p22.3-15.2 |
pathogenic |
GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3 | copy number gain | See cases [RCV000136649] | Chr7:5682209..27230311 [GRCh38] Chr7:5721840..27269930 [GRCh37] Chr7:5688366..27236455 [NCBI36] Chr7:7p22.1-15.2 |
pathogenic |
GRCh38/hg38 7p22.3-22.1(chr7:54185-6638027)x3 | copy number gain | See cases [RCV000136731] | Chr7:54185..6638027 [GRCh38] Chr7:54185..6677658 [GRCh37] Chr7:149268..6644183 [NCBI36] Chr7:7p22.3-22.1 |
pathogenic |
GRCh38/hg38 7p22.3-21.3(chr7:45130-7252065)x3 | copy number gain | See cases [RCV000137524] | Chr7:45130..7252065 [GRCh38] Chr7:45130..7291696 [GRCh37] Chr7:140213..7258221 [NCBI36] Chr7:7p22.3-21.3 |
pathogenic |
GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3 | copy number gain | See cases [RCV000137824] | Chr7:45130..25221165 [GRCh38] Chr7:45130..25260784 [GRCh37] Chr7:140213..25227309 [NCBI36] Chr7:7p22.3-15.3 |
pathogenic |
GRCh38/hg38 7p22.1(chr7:5331115-6751518)x3 | copy number gain | See cases [RCV000139037] | Chr7:5331115..6751518 [GRCh38] Chr7:5370746..6791149 [GRCh37] Chr7:5337272..6757674 [NCBI36] Chr7:7p22.1 |
likely pathogenic |
GRCh38/hg38 7p22.1(chr7:6213720-6697571)x3 | copy number gain | See cases [RCV000140742] | Chr7:6213720..6697571 [GRCh38] Chr7:6253351..6737202 [GRCh37] Chr7:6219876..6703727 [NCBI36] Chr7:7p22.1 |
uncertain significance |
GRCh38/hg38 7p22.1(chr7:6257137-6575271)x1 | copy number loss | See cases [RCV000142488] | Chr7:6257137..6575271 [GRCh38] Chr7:6296768..6614902 [GRCh37] Chr7:6263293..6581427 [NCBI36] Chr7:7p22.1 |
uncertain significance |
GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3 | copy number gain | See cases [RCV000143060] | Chr7:1698124..27207295 [GRCh38] Chr7:1737760..27246914 [GRCh37] Chr7:1704286..27213439 [NCBI36] Chr7:7p22.3-15.2 |
pathogenic |
GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3 | copy number gain | See cases [RCV000143586] | Chr7:43360..27196404 [GRCh38] Chr7:43360..27236023 [GRCh37] Chr7:138443..27202548 [NCBI36] Chr7:7p22.3-15.2 |
pathogenic |
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 | copy number loss | See cases [RCV000446044] | Chr7:43360..159119707 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh37/hg19 7p22.1(chr7:6202675-6579535)x3 | copy number gain | See cases [RCV000240466] | Chr7:6202675..6579535 [GRCh37] Chr7:7p22.1 |
uncertain significance |
GRCh37/hg19 7p22.3-21.3(chr7:183556-12746636)x3 | copy number gain | See cases [RCV000449446] | Chr7:183556..12746636 [GRCh37] Chr7:7p22.3-21.3 |
pathogenic |
GRCh37/hg19 7p22.3-21.1(chr7:43360-17656861)x3 | copy number gain | See cases [RCV000449347] | Chr7:43360..17656861 [GRCh37] Chr7:7p22.3-21.1 |
pathogenic |
GRCh37/hg19 7p22.3-15.3(chr7:43360-23674928)x3 | copy number gain | See cases [RCV000510652] | Chr7:43360..23674928 [GRCh37] Chr7:7p22.3-15.3 |
pathogenic |
GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3 | copy number gain | See cases [RCV000510275] | Chr7:704573..29257946 [GRCh37] Chr7:7p22.3-14.3 |
pathogenic |
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) | copy number gain | See cases [RCV000510686] | Chr7:43361..159119707 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh37/hg19 7p22.1(chr7:4839046-7110343)x3 | copy number gain | See cases [RCV000511909] | Chr7:4839046..7110343 [GRCh37] Chr7:7p22.1 |
likely pathogenic |
GRCh37/hg19 7p22.3-21.2(chr7:43360-14664158)x3 | copy number gain | See cases [RCV000511772] | Chr7:43360..14664158 [GRCh37] Chr7:7p22.3-21.2 |
pathogenic |
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 | copy number gain | See cases [RCV000511549] | Chr7:43361..159119707 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh37/hg19 7p22.3-21.3(chr7:43360-12098696)x3 | copy number gain | See cases [RCV000510950] | Chr7:43360..12098696 [GRCh37] Chr7:7p22.3-21.3 |
pathogenic |
GRCh37/hg19 7p22.3-21.3(chr7:43360-11567351)x3 | copy number gain | See cases [RCV000512505] | Chr7:43360..11567351 [GRCh37] Chr7:7p22.3-21.3 |
pathogenic |
GRCh37/hg19 7p22.1(chr7:6037640-6540147)x3 | copy number gain | not provided [RCV000682851] | Chr7:6037640..6540147 [GRCh37] Chr7:7p22.1 |
uncertain significance |
GRCh37/hg19 7p22.1-21.3(chr7:6579045-7639607)x3 | copy number gain | not provided [RCV000682880] | Chr7:6579045..7639607 [GRCh37] Chr7:7p22.1-21.3 |
likely benign |
GRCh37/hg19 7p22.2-21.3(chr7:4388620-7302293)x3 | copy number gain | not provided [RCV000682900] | Chr7:4388620..7302293 [GRCh37] Chr7:7p22.2-21.3 |
pathogenic |
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 | copy number gain | not provided [RCV000746278] | Chr7:10704..159122532 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 | copy number gain | not provided [RCV000746280] | Chr7:44935..159126310 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh37/hg19 7p22.1(chr7:6520676-6753050)x1 | copy number loss | not provided [RCV000746424] | Chr7:6520676..6753050 [GRCh37] Chr7:7p22.1 |
benign |
GRCh37/hg19 7p22.3-21.3(chr7:10239-13116278)x3 | copy number gain | not provided [RCV000746277] | Chr7:10239..13116278 [GRCh37] Chr7:7p22.3-21.3 |
pathogenic |
GRCh37/hg19 7p22.1(chr7:6517699-7294602)x3 | copy number gain | not provided [RCV000846638] | Chr7:6517699..7294602 [GRCh37] Chr7:7p22.1 |
uncertain significance |
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 | copy number gain | not provided [RCV000848126] | Chr7:10365..159119707 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh37/hg19 7p22.1(chr7:6440248-6621886)x3 | copy number gain | not provided [RCV000849056] | Chr7:6440248..6621886 [GRCh37] Chr7:7p22.1 |
uncertain significance |
GRCh37/hg19 7p22.3-21.1(chr7:43376-19520619)x3 | copy number gain | not provided [RCV000848100] | Chr7:43376..19520619 [GRCh37] Chr7:7p22.3-21.1 |
pathogenic |
GRCh37/hg19 7p22.1(chr7:6465815-6601692)x1 | copy number loss | not provided [RCV000845595] | Chr7:6465815..6601692 [GRCh37] Chr7:7p22.1 |
uncertain significance |
Database | Acc Id | Source(s) |
AGR Gene | HGNC:18464 | AgrOrtholog |
COSMIC | GRID2IP | COSMIC |
Ensembl Genes | ENSG00000215045 | ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Protein | ENSP00000397351 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENSP00000397887 | UniProtKB/TrEMBL | |
ENSP00000408364 | ENTREZGENE, UniProtKB/TrEMBL | |
Ensembl Transcript | ENST00000435185 | ENTREZGENE, UniProtKB/TrEMBL |
ENST00000452113 | UniProtKB/TrEMBL | |
ENST00000457091 | ENTREZGENE, UniProtKB/Swiss-Prot | |
Gene3D-CATH | 1.20.58.2220 | UniProtKB/Swiss-Prot |
GTEx | ENSG00000215045 | GTEx |
HGNC ID | HGNC:18464 | ENTREZGENE |
Human Proteome Map | GRID2IP | Human Proteome Map |
InterPro | FH2_Formin | UniProtKB/Swiss-Prot |
FH2_Formin_sf | UniProtKB/Swiss-Prot | |
PDZ | UniProtKB/Swiss-Prot | |
PDZ_sf | UniProtKB/Swiss-Prot | |
KEGG Report | hsa:392862 | UniProtKB/Swiss-Prot |
NCBI Gene | 392862 | ENTREZGENE |
OMIM | 610639 | OMIM |
Pfam | FH2 | UniProtKB/Swiss-Prot |
PDZ | UniProtKB/Swiss-Prot | |
PharmGKB | PA134951825 | PharmGKB |
PROSITE | FH2 | UniProtKB/Swiss-Prot |
PDZ | UniProtKB/Swiss-Prot | |
SMART | FH2 | UniProtKB/Swiss-Prot |
PDZ | UniProtKB/Swiss-Prot | |
Superfamily-SCOP | SSF50156 | UniProtKB/Swiss-Prot |
UniGene | Hs.512174 | ENTREZGENE |
UniProt | A4D2P6 | ENTREZGENE |
C9J5F6_HUMAN | UniProtKB/TrEMBL | |
C9JNS8 | ENTREZGENE, UniProtKB/TrEMBL | |
GRD2I_HUMAN | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2016-02-10 | GRID2IP | Grid2 interacting protein | glutamate receptor, ionotropic, delta 2 (Grid2) interacting protein | Symbol and/or name change | 5135510 | APPROVED | |
2011-09-01 | GRID2IP | glutamate receptor, ionotropic, delta 2 (Grid2) interacting protein | GRID2IP | glutamate receptor, ionotropic, delta 2 (Grid2) interacting protein | Symbol and/or name change | 5135510 | APPROVED |
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More on GRID2IP | |
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Alliance Gene |
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NCBI Gene |
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Ensembl Gene |
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JBrowse: hg19 hg38 |
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HGNC Report |
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NCBI Genome Data Viewer |
CRRD Object Information | |
CRRD ID: | 1351156 |
Created: | 2005-03-08 |
Species: | Homo sapiens |
Last Modified: | 2019-11-26 |
Status: | ACTIVE |
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.