Free for academic non-profit institutions. Other users need a Commercial license
This gene encodes a member of the GRB2/Sem5/Drk family. This member is an adaptor-like protein involved in leukocyte-specific protein-tyrosine kinase signaling. Like its related family member, GRB2-related adaptor protein (GRAP), this protein contains an SH2 domain flanked by two SH3 domains. This protein interacts with other proteins, such as GRB2-associated binding protein 1 ... See more...
Aliases for GRAP2 Gene
Aliases for GRAP2 Gene
- GRB2 Related Adaptor Protein 2 2 3 5
- GRBLG 2 3 4
- GADS 2 3 4
- Hematopoietic Cell-Associated Adapter Protein GrpL 3 4
- Growth Factor Receptor-Binding Protein 3 4
- GRB2-Related Adapter Protein 2 3 4
- SH3-SH2-SH3 Adapter Mona 3 4
- Grf40 Adapter Protein 3 4
- Adapter Protein GRID 3 4
- GRB-2-Like Protein 3 4
- Grf-40 3 4
- GRB2L 3 4
- Grf40 2 3
External Ids for GRAP2 Gene
- HGNC: 4563
- NCBI Entrez Gene: 9402
- Ensembl: ENSG00000100351
- OMIM®: 604518
- UniProtKB/Swiss-Prot: O75791
Previous GeneCards Identifiers for GRAP2 Gene
- GC22P036911
- GC22P038540
- GC22P038621
- GC22P040297
- GC22P023272
Summaries for GRAP2 Gene
-
This gene encodes a member of the GRB2/Sem5/Drk family. This member is an adaptor-like protein involved in leukocyte-specific protein-tyrosine kinase signaling. Like its related family member, GRB2-related adaptor protein (GRAP), this protein contains an SH2 domain flanked by two SH3 domains. This protein interacts with other proteins, such as GRB2-associated binding protein 1 (GAB1) and the SLP-76 leukocyte protein (LCP2), through its SH3 domains. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Apr 2014]
GeneCards Summary for GRAP2 Gene
GRAP2 (GRB2 Related Adaptor Protein 2) is a Protein Coding gene. Diseases associated with GRAP2 include Dental Anomalies And Short Stature and Isolated Growth Hormone Deficiency, Type Ib. Among its related pathways are RET signaling and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include SH3/SH2 adaptor activity. An important paralog of this gene is GRB2.
UniProtKB/Swiss-Prot Summary for GRAP2 Gene
-
Interacts with SLP-76 to regulate NF-AT activation. Binds to tyrosine-phosphorylated shc.
Additional gene information for GRAP2 Gene
- HGNC (4563)
- NCBI Entrez Gene (9402)
- Ensembl (ENSG00000100351)
- OMIM® (604518)
- UniProtKB/Swiss-Prot (O75791)
- Open Targets Platform(ENSG00000100351)
- Alliance of Genome Resources
- Search for GRAP2 at DataMed
- Search for GRAP2 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GRAP2 Gene
Genomics for GRAP2 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for GRAP2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around GRAP2 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GRAP2
- Top Transcription factor binding sites by QIAGEN in the GRAP2 gene promoter:
-
- AML1a
- Brachyury
- CUTL1
- IRF-2
- NF-AT3
- NF-AT4
- SRY
- STAT5A
- TBP
Genomic Locations for GRAP2 Gene
Latest Assembly
- chr22:39,901,073-39,973,721
- (GRCh38/hg38)
- Size:
- 72,649 bases
- Orientation:
- Plus strand
Previous Assembly
- chr22:40,297,088-40,369,725
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 72,638 bases
- Orientation:
- Plus strand
Genomic View for GRAP2 Gene
Genes around GRAP2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 22q13.1 by HGNC
- 22q13.1 by Entrez Gene
- 22q13.1 by Ensembl
GRAP2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for GRAP2 Gene
Proteins for GRAP2 Gene
-
Protein details for GRAP2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- O75791-GRAP2_HUMAN
- Recommended name:
- GRB2-related adapter protein 2
- Protein Accession:
- O75791
- B7Z8I3
- O43726
- Q9NRB7
Protein attributes for GRAP2 Gene
- Size:
- 330 amino acids
- Molecular mass:
- 37909 Da
- Quaternary structure:
-
- Interacts with phosphorylated LIME1 upon TCR activation (By similarity). Interacts with phosphorylated LAT and LAX1 upon TCR activation. Interacts with SHB. Interacts with PTPN23.
Protein Expression for GRAP2 Gene
Post-translational modifications for GRAP2 Gene
Other Protein References for GRAP2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- G Biosciences Immunotag™ GRAP2 Antibody
-
Custom Antibody ServicesOriGene Antibodies for GRAP2
- Novus Biologicals Antibodies for GRAP2
-
Abcam antibodies for GRAP2
- Invitrogen Antibodies for GRAP2 (AFLGC-Grap2)
-
Custom Antibody ServicesProSci Antibodies for GRAP2
-
Santa Cruz Biotechnology (SCBT) Antibodies for GRAP2
Protein products for research
-
OriGene Purified Proteins for GRAP2
- Search Origene for MassSpec and Protein Over-expression Lysates for GRAP2
- Origene Custom Protein Services for GRAP2
- ProSpec Recombinant Proteins for GRAP2
-
Abcam proteins for GRAP2
Assay products for research
No data available for DME Specific Peptides for GRAP2 Gene
Domains & Families for GRAP2 Gene
Gene Families for GRAP2 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for GRAP2 Gene
- InterPro:
- Blocks:
-
- SH2 domain signature
- SH3 domain signature
Suggested Antigen Peptide Sequences for GRAP2 Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ52037, highly similar to GRB2-related adapter protein 2 (B7Z8E3_HUMAN)
- cDNA FLJ50399, highly similar to GRB2-related adapter protein 2 (B7Z8F8_HUMAN)
- cDNA FLJ52039, highly similar to GRB2-related adapter protein 2 (B7Z8I3_HUMAN)
- SH3-SH2-SH3 adapter Mona (GRAP2_HUMAN)
- GRAP2 protein (Q6FHA6_HUMAN)
Graphical View of Domain Structure for InterPro Entry
O75791- Family:
-
- Belongs to the GRB2/sem-5/DRK family.
Function for GRAP2 Gene
Molecular function for GRAP2 Gene
- UniProtKB/Swiss-Prot Function:
- Interacts with SLP-76 to regulate NF-AT activation. Binds to tyrosine-phosphorylated shc.
- GENATLAS Biochemistry:
- Grb2-related adaptor protein 2,expressed in thymus and spleen interacting with cKIT,EPOR,coupling tyrosine kinase to the RAS pathway
Phenotypes From GWAS Catalog for GRAP2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 12359715 |
Phenotypes for GRAP2 Gene
- MGI mutant phenotypes for GRAP2:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for GRAP2:
-
- Increased vaccinia virus (VACV) infection
- Increased shRNA abundance (Z-score > 2)
- Reduced mammosphere formation
- no effect
- Increased S DNA content
- Decreased vaccinia virus (VACV) infection
- Synthetic lethal with Ras
- Decreased shRNA abundance (Z-score < -2)
- Negative genetic interaction between KRASG13D/+ and KRAS+/-
- Decreased Salmonella proliferation
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for GRAP2 - Starting at $85 >
- * GRAP2 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for GRAP2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GRAP2
-
Santa Cruz Biotechnology (SCBT) CRISPR for GRAP2
miRNA for GRAP2 Gene
- miRTarBase miRNAs that target GRAP2
-
- hsa-miR-3605-5p (MIRT493736)
- hsa-miR-3679-5p (MIRT493737)
- hsa-miR-1185-5p (MIRT493738)
- hsa-miR-7153-5p (MIRT493739)
- hsa-miR-146b-5p (MIRT493740)
- hsa-miR-146a-5p (MIRT493741)
- hsa-miR-4756-3p (MIRT493742)
- hsa-miR-3925-5p (MIRT493743)
- hsa-miR-3919 (MIRT493744)
- hsa-miR-1183 (MIRT493745)
- hsa-miR-383-5p (MIRT493746)
- mmu-miR-1941-3p (MIRT578649)
- mmu-miR-452-3p (MIRT603947)
- mmu-miR-343 (MIRT603948)
- mmu-miR-339-5p (MIRT603949)
- mmu-miR-3057-3p (MIRT603950)
- hsa-miR-129-5p (MIRT640997)
- hsa-miR-550b-3p (MIRT640998)
- hsa-miR-670-5p (MIRT657616)
- hsa-miR-4313 (MIRT657617)
- hsa-miR-324-3p (MIRT657618)
- hsa-miR-1913 (MIRT657619)
- hsa-miR-6752-3p (MIRT657620)
- hsa-miR-361-3p (MIRT657621)
- hsa-miR-4775 (MIRT668059)
- hsa-miR-4758-5p (MIRT725458)
- hsa-miR-548s (MIRT725459)
- hsa-miR-1238-5p (MIRT725460)
- hsa-miR-3926 (MIRT725461)
- hsa-miR-4745-5p (MIRT725462)
- hsa-miR-3190-5p (MIRT725463)
- hsa-miR-4481 (MIRT725464)
- hsa-miR-7162-3p (MIRT725465)
- hsa-miR-544b (MIRT725466)
- hsa-miR-4459 (MIRT725467)
- hsa-miR-4433a-3p (MIRT725468)
- hsa-miR-4768-3p (MIRT725469)
- hsa-miR-6765-3p (MIRT725470)
- hsa-miR-3622b-3p (MIRT725471)
- hsa-miR-3620-3p (MIRT725472)
- hsa-miR-3622a-3p (MIRT725473)
- hsa-miR-6849-5p (MIRT725474)
- hsa-miR-3681-5p (MIRT725475)
- hsa-miR-504-5p (MIRT725476)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for GRAP2
- Browse OriGene Inhibitory RNA Products For GRAP2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GRAP2
Clone products for research
- Applied Biological Materials (abm): Clones for GRAP2 - Starting at $45 >
- * GRAP2 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for GRAP2
- Addgene plasmids for GRAP2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GRAP2
Cell Lines for research
-
Horizon Cell Lines for GRAP2
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GRAP2 Gene
Localization for GRAP2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for GRAP2 Gene
- Nucleus. Cytoplasm. Endosome.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| endosome | 5 |
| cytosol | 5 |
| plasma membrane | 4 |
| extracellular | 2 |
| cytoskeleton | 2 |
| endoplasmic reticulum | 2 |
| mitochondrion | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Cytosol (3)
- Nucleoplasm (3)
- Plasma membrane (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA,IDA | 21179510 |
| GO:0005654 | nucleoplasm | IDA | -- |
| GO:0005737 | cytoplasm | TAS,IDA | 21179510 |
| GO:0005768 | endosome | IEA,IDA | 21179510 |
| GO:0005829 | cytosol | TAS | -- |
Pathways & Interactions for GRAP2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | RET signaling |
.92
|
|
| 2 | T cell receptor signaling pathway | ||
| 3 | TCR Signaling (Qiagen) |
PKC-Theta Pathway
.68
TCR Signaling
.68
|
ITK and TCR Signaling
.54
|
| 4 | ICos-ICosL Pathway in T-Helper Cell |
CD28 Signaling in T-Helper Cell
.66
|
ICos-ICosL Pathway in T-Helper Cell
.66
|
| 5 | CD28 co-stimulation | ||
Pathways by source for GRAP2 Gene
6 BioSystems pathways for GRAP2 Gene
14 Reactome pathways for GRAP2 Gene
1 KEGG pathway for GRAP2 Gene
1 GeneGo (Thomson Reuters) pathway for GRAP2 Gene
- Immune response CD28 signaling
9 Qiagen pathways for GRAP2 Gene
- CD28 Signaling in T-Helper Cell
- CTLA4 Signaling
- ICos-ICosL Pathway in T-Helper Cell
- IP3 Pathway
- ITK and TCR Signaling
1 GeneTex pathway for GRAP2 Gene
Interacting Proteins for GRAP2 Gene
Selected Interacting proteins:
O75791-GRAP2_HUMAN
ENSP00000339186
for GRAP2 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for GRAP2
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0007265 | Ras protein signal transduction | TAS | 9878555 |
| GO:0007267 | cell-cell signaling | TAS | 9878555 |
| GO:0031295 | T cell costimulation | TAS | -- |
| GO:0038095 | Fc-epsilon receptor signaling pathway | TAS | -- |
| GO:0050852 | T cell receptor signaling pathway | TAS | -- |
No data available for SIGNOR curated interactions for GRAP2 Gene
Transcripts for GRAP2 Gene
mRNA/cDNA for GRAP2 Gene
- 5 REFSEQ mRNAs :
- 23 NCBI additional mRNA sequence :
- 7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000344138 3891 nts (view in UCSC)
- ENST00000407075 1304 nts (view in UCSC)
- ENST00000420971 568 nts (view in UCSC)
- ENST00000460449 442 nts (view in UCSC)
- ENST00000461082 1594 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for GRAP2 - Starting at $85 >
- * GRAP2 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for GRAP2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GRAP2
-
Santa Cruz Biotechnology (SCBT) CRISPR for GRAP2
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for GRAP2
- Browse OriGene Inhibitory RNA Products For GRAP2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GRAP2
Clone products for research
- Applied Biological Materials (abm): Clones for GRAP2 - Starting at $45 >
- * GRAP2 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for GRAP2
- Addgene plasmids for GRAP2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GRAP2
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||||||||
| SP2: | - |
Relevant External Links for GRAP2 Gene
- GeneLoc Exon Structure for
- GRAP2
Expression for GRAP2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
mRNA differential expression in normal tissues according to GTEx for GRAP2 Gene
This gene is overexpressed in Whole Blood (x20.5) and Spleen (x4.2).
This gene is overexpressed in Peripheral blood mononuclear cells (19.5), Tlymphocyte (19.4), and CD8 Tcells (12.8).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GRAP2 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GRAP2
SOURCE GeneReport for Unigene cluster for GRAP2 Gene:
Hs.517499Evidence on tissue expression from TISSUES for GRAP2 Gene
- Blood(4.5)
- Spleen(4.4)
- Liver(4.3)
- Lung(4.3)
- Lymph node(2.3)
Primer products for research
-
OriGene qPCR primer pairs for GRAP2
-
OriGene qPCR primer pairs and template standards for GRAP2
Gene Expression Assays for research
No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GRAP2 Gene
Orthologs for GRAP2 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | GRAP2 29 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | GRAP2 29 30 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | GRAP2 29 30 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Grap2 29 |
|
||
| Mouse (Mus musculus) |
Mammalia | Grap2 29 16 30 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | GRAP2 30 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | GRAP2 30 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | GRAP2 29 30 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | GRAP2 30 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | grap2 29 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | grap2b 29 30 |
|
OneToMany | |
| grap2a 30 |
|
OneToMany | |||
| -- 29 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | drk 30 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | sem-5 30 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.8309 30 |
|
OneToMany |
- Species where no ortholog for GRAP2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for GRAP2 Gene
- ENSEMBL:
- Gene Tree for GRAP2 (if available)
- TreeFam:
- Gene Tree for GRAP2 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for GRAP2: view image
- Alliance of Genome Resources:
- Additional Orthologs for GRAP2
Paralogs for GRAP2 Gene
(38) SIMAP similar genes for GRAP2 Gene using alignment to 8 proteins:
- GRAP2_HUMAN
- B1AH86_HUMAN
- B7Z8E3_HUMAN
- B7Z8I3_HUMAN
- F5H1V3_HUMAN
- F5H548_HUMAN
- Q6FHA6_HUMAN
- Q6FI14_HUMAN
Variants for GRAP2 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GRAP2 Gene
| SNP ID | Clinical significance and condition | Chr 22 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs114611169 | Benign: not provided | 39,969,459(+) |
G/A NM_004810.4(GRAP2):c.739G>A (p.Gly247Ser) |
MISSENSE | |
| rs141126223 | Benign: not provided | 39,968,048(+) |
C/T NM_004810.4(GRAP2):c.466C>T (p.Arg156Trp) |
MISSENSE | |
| rs370893199 | Likely Benign: not provided | 39,970,925(+) |
G/A NM_004810.4(GRAP2):c.834G>A (p.Ala278=) |
SYNONYMOUS | |
| rs373440896 | Benign: not provided | 39,968,035(+) |
C/T NM_004810.4(GRAP2):c.460-7C>T |
INTRON | |
| rs5757821 | Benign: not provided | 39,969,521(+) |
C/G NM_004810.4(GRAP2):c.801C>G (p.Leu267=) |
SYNONYMOUS |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3647768 | CNV | loss | 21293372 |
| nsv1131660 | CNV | deletion | 24896259 |
| nsv510808 | CNV | deletion | 20534489 |
| nsv834201 | CNV | gain | 17160897 |
| nsv979678 | CNV | duplication | 23825009 |
Residual Variation Intolerance Score:
56.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.92;
35.72% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for GRAP2 Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GRAP2 Gene
Disorders for GRAP2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| dental anomalies and short stature |
|
|
| isolated growth hormone deficiency, type ib |
|
|
| somatization disorder |
|
|
| succinic semialdehyde dehydrogenase deficiency |
|
|
Search GRAP2 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for GRAP2
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for GRAP2 Gene
Publications for GRAP2 Gene
- Molecular cloning and expression of human grap-2, a novel leukocyte-specific SH2- and SH3-containing adaptor-like protein that binds to gab-1. (PMID: 9878555) Qiu M … Liu M (Biochemical and biophysical research communications 1998) 2 3 4 22
- Association of Grb2, Gads, and phospholipase C-gamma 1 with phosphorylated LAT tyrosine residues. Effect of LAT tyrosine mutations on T cell angigen receptor-mediated signaling. (PMID: 10811803) Zhang W … Samelson LE (The Journal of biological chemistry 2000) 3 4 22
- Grf40, A novel Grb2 family member, is involved in T cell signaling through interaction with SLP-76 and LAT. (PMID: 10224278) Asada H … Sugamura K (The Journal of experimental medicine 1999) 2 3 4
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 40
- Histidine domain-protein tyrosine phosphatase interacts with Grb2 and GrpL. (PMID: 21179510) Tanase CA (PloS one 2010) 3 4
ExternalLinks
Products for GRAP2 Gene
- Custom Antibody ServicesOriGene Antibodies for GRAP2
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for GRAP2
- Search Origene for MassSpec and Protein Over-expression Lysates for GRAP2
- Origene Custom Protein Services for GRAP2
- Origene shrna, sirna, and RNAi products in human, mouse, rat for GRAP2
- Browse OriGene Inhibitory RNA Products For GRAP2
- OriGene qPCR primer pairs for GRAP2
- OriGene qPCR primer pairs and template standards for GRAP2
- OriGene CRISPR knockouts for GRAP2
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For GRAP2
- Sino Biological Human cDNA Clone for GRAP2
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for GRAP2
- Novus Biologicals proteins and lysates for GRAP2
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for GRAP2
- Abcam proteins for GRAP2
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- VectorBuilder Custom and pre-made DNA vectors for GRAP2 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for GRAP2 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for GRAP2 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for GRAP2 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for GRAP2
- Addgene plasmids for GRAP2
- antibodies-online: Show 38 available GRAP2 Antibodies ranked by validation data
- Compare Top GRAP2 Antibodies
- antibodies-online: Show 11 available GRAP2 Elisa Kits ranked by validation data
- Compare Top GRAP2 Elisa Kits
- antibodies-online: Show 13 available GRAP2 Proteins ranked by validation data
- Compare Top GRAP2 Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for GRAP2
- Search Santa Cruz Biotechnology (SCBT) for GRAP2 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for GRAP2
- Horizon Cell Lines for GRAP2
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GRAP2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GRAP2
- Search GeneCopoeia for miRNA 3'UTR Target clone products for GRAP2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GRAP2
Sources for GRAP2 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Apr-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) ASD
- (27) SAGE
- (28) SOURCE
- (29) HomoloGene
- (30) PanEnsembl
- (31) euGenes
- (32) SGD
- (33) FlyBase
- (34) WormBase
- (35) Pseudogene
- (36) DGV
- (37) dbSNP
- (38) GenAtlas
- (39) HGMD
- (40) GAD
- (41) BGMUT
- (42) HuGE
- (43) Atlas
- (44) GenBank
- (45) HORDE
- (46) HUGE
- (47) IMGT
- (48) Leiden
- (49) miRBase
- (50) DME
- (51) OriGene
- (52) PubMed
- (53) R&D Systems
- (54) Tocris
- (55) Abcam
- (56) Novus Biologicals
- (57) ProSpec
- (58) Sino Biological
- (59) GenScript
- (60) Qiagen
- (61) OCA
- (62) Proteopedia
- (63) MOPED
- (64) neXtProt
- (65) Reactome
- (66) GeneGo (Thomson Reuters)
- (67) DISEASES
- (68) SIMAP
- (69) GenomeRNAi
- (70) LifeMap
- (71) miRTarBase
- (72) MalaCards
- (73) Invitrogen
- (74) BitterDB
- (75) ESI-BIO
- (76) RefSeq
- (77) BioSystems
- (78) MaxQB
- (79) IUPHAR
- (80) BioGPS
- (81) Illumina
- (82) COMPARTMENTS
- (83) HOMER
- (84) PaxDb
- (85) ApexBio
- (86) Addgene
- (87) antibodies-online
- (88) CYP
- (89) NONCODE
- (90) TreeFam
- (91) PathCards
- (92) GeneReviews
- (93) GeneTex
- (94) Taconic Biosciences
- (95) GTEx
- (96) ProteomicsDB
- (97) SCBT
- (98) DGIdb
- (99) ClinicalTrials
- (100) RVIS
- (101) SIGNOR
- (102) diseasecard
- (103) NIH Rare Diseases
- (104) Orphanet
- (105) UMLS
- (106) GTR
- (107) Disease Ontology
- (108) MedlinePlus Genetics
- (109) MeSH
- (110) MedlinePlus
- (111) CDC
- (112) NINDS
- (113) NCBI Bookshelf
- (114) ClinVar
- (115) Gene Damage Index
- (116) HPO
- (117) UDN
- (118) VISTA
- (119) FANTOM5
- (120) ENCODE
- (121) ProSci
- (122) Horizon
- (123) The Signaling Pathways Project (SPP)
- (124) IID
- (125) VectorBuilder
- (126) SNPedia
- (127) BRCA Exchange
- (128) CIViC
- (129) ProteoGenix
- (130) dbSUPER
- (131) TISSUES
- (132) Gene ORGANizer
- (133) abm
- (134) Human Protein Atlas
- (135) GWAS Catalog
- (136) Monarch Initiative
- (137) DataMed
- (138) HumanCyc
- (139) UCNEbase
- (140) EPDnew
- (141) Applied Biosystems
- (142) GlyConnect
- (143) Aminode
- (144) GeneCopoeia
- (145) GPS-Prot
- (146) RNAcentral
- (147) LncRNADisease
- (148) LOVD
- (149) miR2Disease
- (150) DiseaseEnhancer
- (151) Boster Bio
- (152) Biorbyt
- (153) Biocompare
- (154) Mastermind
- (155) CTD^2 Dashboard
- (156) CraniofacialAtlas
- (157) GeneImprint
- (158) Synthego
- (159) ENA
- (160) GtRNAdb
- (161) LncBase
- (162) LncBook
- (163) LNCipedia
- (164) Modomics
- (165) PDBe
- (166) Rfam
- (167) SILVA
- (168) snOPY
- (169) SRPDB
- (170) GENCODE
- (171) TarBase
- (172) Open Targets Platform
- (173) 5SRRNADB
- (174) snoDB
- (175) MirGeneDB
- (176) Alliance of Genome Resources