Hs03650071_cn

• Gene Symbol: SH2B2
• Assay Reference Genome Location: Chr.7:102319325 on build GRCh38
• Cytoband: 7q22.1

Target Gene Details

• Entrez Gene ID: 10603
• Gene Name: SH2B adaptor protein 2
• Gene Aliases: APS
• Location: Chr.7:102284526-102321711 on Build GRCh38
• Assay Gene Location: Within Intron 10

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SH2B2	NM_020979.4			NP_066189.3
	XM_005276975.4			XP_005277032.1
	XM_005276976.3			XP_005277033.1
	XM_005276977.4			XP_005277034.1
	XM_005276979.3			XP_005277036.1
	XM_011515740.2			XP_011514042.1
	XM_017011680.1			XP_016867169.1
	XM_017011681.1			XP_016867170.1
	AB000520.1			BAA22514.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv509218	Chr.7:102146933 - 102338052 on Build GRCh38	Insertion	SH2B2 MIR4285 CUX1
nsv949918	Chr.7:102256821 - 102325182 on Build GRCh38	Deletion	SH2B2 MIR4285 CUX1
nsv831082	Chr.7:102162820 - 102347688 on Build GRCh38	Gain	SH2B2 MIR4285 SPDYE6 CUX1
nsv428182	Chr.7:102257460 - 102735503 on Build GRCh38	Gain	FBXL13 MIR4285 UPK3BL ALKBH4 RASA4 MIR4467 LOC100289561 SPDYE2 PRKRIP1 LOC102724229 LRWD1 LOC100630923 SH2B2 RASA4B ORAI2 MIR548O SPDYE2B POLR2J3 SPDYE6 POLR2J2 CUX1 POLR2J MIR5090 LOC107983993
dgv6538n100	Chr.7:102171110 - 103063688 on Build GRCh38	Gain	UPK3BL RASA4 MIR4467 LOC100289561 LRRC17 SPDYE2 LOC100630923 ORAI2 MIR548O SPDYE6 LOC107983993 FBXL13 MIR4285 FAM185A ALKBH4 PRKRIP1 LOC102724229 LRWD1 SH2B2 RASA4B SPDYE2B POLR2J3 NFE4 POLR2J2 CUX1 POLR2J MIR5090

More Information

Additional Information:

For this assay, SNP(s) [rs79356898] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

scaffold/adaptor protein

Gene Ontology Categories:

Process(es)

signal transduction
blood coagulation
insulin receptor signaling pathway
positive regulation of signal transduction
intracellular signal transduction
regulation of JAK-STAT cascade

Function(s)

signal transducer activity
SH3/SH2 adaptor activity
protein binding
JAK pathway signal transduction adaptor activity