GRB14

growth factor receptor bound protein 14, the group of Pleckstrin homology domain containing|SH2 domain containing

Basic information

Region (hg38): 2:164492417-164621482

Links

ENSG00000115290 ∙ NCBI:2888 ∙ OMIM:601524 ∙ HGNC:4565 ∙ Uniprot:Q14449 ∙ 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 GRB14 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GRB14 gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					1	1
missense			42			42
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	42	0	1

Variants in GRB14

This is a list of pathogenic ClinVar variants found in the GRB14 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
2-164493133-C-T		not specified	Uncertain significance (Apr 07, 2022)
2-164493137-T-C		not specified	Uncertain significance (Feb 13, 2024)
2-164493166-T-G		not specified	Uncertain significance (Aug 05, 2023)
2-164494433-G-A		not specified	Uncertain significance (Sep 23, 2015)
2-164494472-T-C		not specified	Uncertain significance (Oct 26, 2022)
2-164494510-C-T		not specified	Uncertain significance (May 20, 2024)
2-164497017-A-G		not specified	Uncertain significance (Dec 20, 2022)
2-164497089-T-C		not specified	Uncertain significance (Dec 26, 2023)
2-164497237-G-T		not specified	Uncertain significance (Jun 23, 2021)
2-164497240-G-A		not specified	Uncertain significance (Oct 27, 2022)
2-164497259-T-C		not specified	Uncertain significance (Oct 03, 2022)
2-164497267-C-T		not specified	Uncertain significance (Sep 27, 2022)
2-164497268-G-A		not specified	Uncertain significance (May 03, 2023)
2-164497282-T-C		not specified	Uncertain significance (Feb 27, 2023)
2-164497448-C-T		not specified	Uncertain significance (Oct 26, 2022)
2-164502282-G-A			Benign (Mar 30, 2018)
2-164508472-C-T		not specified	Uncertain significance (Jun 21, 2023)
2-164508486-G-A		not specified	Uncertain significance (Dec 13, 2021)
2-164508502-C-G		not specified	Uncertain significance (Dec 04, 2023)
2-164508511-A-G		not specified	Uncertain significance (Aug 30, 2021)
2-164508516-A-T		not specified	Uncertain significance (May 03, 2023)
2-164508768-G-A		not specified	Uncertain significance (Aug 12, 2021)
2-164508768-G-C		not specified	Uncertain significance (Feb 17, 2024)
2-164508825-C-T		not specified	Uncertain significance (Jul 14, 2021)
2-164522045-A-G		not specified	Uncertain significance (Sep 27, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GRB14	protein_coding	protein_coding	ENST00000263915	14	129037

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0531	0.947	125706	0	40	125746	0.000159

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0449	265	263	1.01	0.0000136	3534
Missense in Polyphen		71	80.919	0.87742		1061
Synonymous	-0.808	105	95.0	1.11	0.00000545	994
Loss of Function	3.63	8	29.1	0.275	0.00000147	367

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000244	0.000236
Ashkenazi Jewish	0.0000994	0.0000992
East Asian	0.00	0.00
Finnish	0.000416	0.000416
European (Non-Finnish)	0.000185	0.000185
Middle Eastern	0.00	0.00
South Asian	0.0000653	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Adapter protein which modulates coupling of cell surface receptor kinases with specific signaling pathways. Binds to, and suppresses signals from, the activated insulin receptor (INSR). Potent inhibitor of insulin-stimulated MAPK3 phosphorylation. Plays a critical role regulating PDPK1 membrane translocation in response to insulin stimulation and serves as an adapter protein to recruit PDPK1 to activated insulin receptor, thus promoting PKB/AKT1 phosphorylation and transduction of the insulin signal. {ECO:0000269|PubMed:15210700, ECO:0000269|PubMed:19648926}.
• Pathway: Angiogenesis overview;Rac1-Pak1-p38-MMP-2 pathway;Insulin Signaling;EGFR1;Tie2 Signaling;Cell surface interactions at the vascular wall;Hemostasis;Angiopoietin receptor Tie2-mediated signaling;Insulin Pathway (Consensus)

Recessive Scores

• pRec: 0.164

Intolerance Scores

• loftool: 0.777
• rvis_EVS: -0.18
• rvis_percentile_EVS: 40.45

Haploinsufficiency Scores

• pHI: 0.816
• hipred: Y
• hipred_score: 0.790
• ghis: 0.468

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.790

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Grb14
• Phenotype: growth/size/body region phenotype; homeostasis/metabolism phenotype; hematopoietic system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); liver/biliary system phenotype; immune system phenotype

Gene ontology

• Biological process: signal transduction;positive regulation of signal transduction;negative regulation of insulin receptor signaling pathway;leukocyte migration
• Cellular component: cytoplasm;cytosol;plasma membrane;endosome membrane;intracellular membrane-bounded organelle
• Molecular function: SH3/SH2 adaptor activity;receptor tyrosine kinase binding;identical protein binding;protein homodimerization activity