SH2B2

SH2B adaptor protein 2, the group of Pleckstrin homology domain containing|MicroRNA protein coding host genes|SH2 domain containing

Basic information

Region (hg38): 7:102285091-102321711

Links

ENSG00000160999

∙ NCBI:10603 ∙ OMIM:605300 ∙ HGNC:17381 ∙ Uniprot:O14492 ∙ 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 SH2B2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SH2B2 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						0
missense			2 clinvar			2
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	2	0	0

Variants in SH2B2

This is a list of pathogenic ClinVar variants found in the SH2B2 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-102300593-C-G		not specified	Uncertain significance (Aug 17, 2021)	2246352
7-102300969-T-G		not specified	Uncertain significance (Oct 22, 2021)	2256669

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SH2B2	protein_coding	protein_coding	ENST00000536178	10	33774

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000149	0.965	124667	0	23	124690	0.0000922

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.84	237	331	0.715	0.0000229	4181
Missense in Polyphen		95	119.44	0.7954		1439
Synonymous	1.93	121	151	0.800	0.0000122	1433
Loss of Function	1.93	11	20.4	0.538	8.76e-7	261

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000105	0.0000934
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000556	0.0000556
Finnish	0.0000949	0.0000928
European (Non-Finnish)	0.000128	0.000124
Middle Eastern	0.0000556	0.0000556
South Asian	0.000135	0.000131
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: Adapter protein for several members of the tyrosine kinase receptor family. Involved in multiple signaling pathways. May be involved in coupling from immunoreceptor to Ras signaling. Acts as a negative regulator of cytokine signaling in collaboration with CBL. Binds to EPOR and suppresses EPO-induced STAT5 activation, possibly through a masking effect on STAT5 docking sites in EPOR. Suppresses PDGF-induced mitogenesis. May induce cytoskeletal reorganization via interaction with VAV3. {ECO:0000269|PubMed:10374881, ECO:0000269|PubMed:12400014, ECO:0000269|PubMed:15378031, ECO:0000269|PubMed:9989826}.;
Pathway: Neurotrophin signaling pathway - Homo sapiens (human);Insulin signaling pathway - Homo sapiens (human);Brain-Derived Neurotrophic Factor (BDNF) signaling pathway;Kit receptor signaling pathway;Insulin Signaling;Signal Transduction;Factors involved in megakaryocyte development and platelet production;BCR;Regulation of KIT signaling;BDNF;Hemostasis;Signaling by SCF-KIT;Signaling by Receptor Tyrosine Kinases;Insulin Pathway;Neurotrophic factor-mediated Trk receptor signaling;Signaling events mediated by Stem cell factor receptor (c-Kit) (Consensus)

Haploinsufficiency Scores

pHI: 0.0990
hipred: N
hipred_score: 0.273
ghis: 0.494

Essentials

essential_gene_CRISPR
essential_gene_CRISPR2: S
essential_gene_gene_trap
gene_indispensability_pred: E
gene_indispensability_score: 0.731

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Sh2b2
Phenotype: hematopoietic system phenotype; immune system phenotype; homeostasis/metabolism phenotype;

Gene ontology

Biological process: B-1 B cell homeostasis;signal transduction;nervous system development;blood coagulation;insulin receptor signaling pathway;positive regulation of signal transduction;cytokine-mediated signaling pathway;regulation of metabolic process;actin cytoskeleton organization;intracellular signal transduction;regulation of JAK-STAT cascade;regulation of Ras protein signal transduction;antigen receptor-mediated signaling pathway;brown fat cell differentiation
Cellular component: stress fiber;ruffle;cytoplasm;cytosol;actin filament;plasma membrane
Molecular function: transmembrane receptor protein tyrosine kinase adaptor activity;SH3/SH2 adaptor activity;protein binding;JAK pathway signal transduction adaptor activity;identical protein binding