GRB7

growth factor receptor bound protein 7, the group of SH2 domain containing|Pleckstrin homology domain containing

Basic information

Region (hg38): 17:39737927-39747291

Links

ENSG00000141738

∙ NCBI:2886 ∙ OMIM:601522 ∙ HGNC:4567 ∙ Uniprot:Q14451 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the GRB7 gene.

not_specified (58 variants)
not_provided (9 variants)
High_myopia (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GRB7 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000005310.5. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				2 clinvar	1 clinvar	3
missense			54 clinvar	2 clinvar	3 clinvar	59
nonsense						0
start loss			1			1
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	55	4	4

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GRB7	protein_coding	protein_coding	ENST00000445327	15	9365

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000136	0.998	125649	0	98	125747	0.000390

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.677	324	360	0.900	0.0000237	3589
Missense in Polyphen		124	144.79	0.85641		1390
Synonymous	-0.183	144	141	1.02	0.00000893	1130
Loss of Function	2.73	15	31.6	0.475	0.00000166	324

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00167	0.00166
Ashkenazi Jewish	0.000298	0.000298
East Asian	0.000109	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.000287	0.000281
Middle Eastern	0.000109	0.000109
South Asian	0.0000991	0.0000980
Other	0.000489	0.000489

dbNSFP

Source: dbNSFP

Function: FUNCTION: Adapter protein that interacts with the cytoplasmic domain of numerous receptor kinases and modulates down-stream signaling. Promotes activation of down-stream protein kinases, including STAT3, AKT1, MAPK1 and/or MAPK3. Promotes activation of HRAS. Plays a role in signal transduction in response to EGF. Plays a role in the regulation of cell proliferation and cell migration. Plays a role in the assembly and stability of RNA stress granules. Binds to the 5'UTR of target mRNA molecules and represses translation of target mRNA species, when not phosphorylated. Phosphorylation impairs RNA binding and promotes stress granule disassembly during recovery after cellular stress (By similarity). {ECO:0000250, ECO:0000269|PubMed:10893408, ECO:0000269|PubMed:12021278, ECO:0000269|PubMed:12223469, ECO:0000269|PubMed:20622016}.;
Pathway: Angiogenesis overview;Kit receptor signaling pathway;Rac1-Pak1-p38-MMP-2 pathway;Developmental Biology;Signal Transduction;Signaling by PDGF;KitReceptor;EGFR1;Tie2 Signaling;Cell surface interactions at the vascular wall;Hemostasis;Signaling events regulated by Ret tyrosine kinase;Downstream signal transduction;Angiopoietin receptor Tie2-mediated signaling;RET signaling;Axon guidance;Signaling by SCF-KIT;GRB7 events in ERBB2 signaling;Signaling by ERBB2;Signaling by Receptor Tyrosine Kinases;Signaling events mediated by focal adhesion kinase;EPHB forward signaling (Consensus)

Recessive Scores

pRec: 0.277

Intolerance Scores

loftool: 0.793
rvis_EVS: 0.07
rvis_percentile_EVS: 59.16

Haploinsufficiency Scores

pHI: 0.705
hipred: Y
hipred_score: 0.683
ghis: 0.506

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.930

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

Gene name: Grb7
Phenotype: vision/eye phenotype; skeleton phenotype; homeostasis/metabolism phenotype;

Gene ontology

Biological process: epidermal growth factor receptor signaling pathway;axon guidance;positive regulation of signal transduction;negative regulation of translation;positive regulation of cell migration;stress granule assembly;ERBB2 signaling pathway;leukocyte migration
Cellular component: cytosol;plasma membrane;focal adhesion;cytoplasmic stress granule;cell projection
Molecular function: RNA binding;SH3/SH2 adaptor activity;protein binding;protein kinase binding;phosphatidylinositol binding;identical protein binding