SHC2 SHC adaptor protein 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SHC2provided by HGNC
Official Full Name: SHC adaptor protein 2provided by HGNC
Primary source: HGNC:HGNC:29869
See related: Ensembl:ENSG00000129946 MIM:605217; AllianceGenome:HGNC:29869
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SCK; SLI; SHCB
Summary: Predicted to enable receptor tyrosine kinase binding activity. Predicted to be involved in transmembrane receptor protein tyrosine kinase signaling pathway. Predicted to be located in cytosol. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in prostate (RPKM 10.2), gall bladder (RPKM 9.1) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.3

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (416589..461033, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (364869..412538, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (416589..461033, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Sck was identified as a novel molecule indispensable for CD95's activation of the PI3K and MAPK pathways and induction of cell cycle progression in pancreatic ductal adenocarcinoma.
Title: CD95 promotes metastatic spread via Sck in pancreatic ductal adenocarcinoma.
SHC2 gene deletions underlie few, if any, cases of well-characterized multiple system atrophy in the US population.
Title: SHC2 gene copy number in multiple system atrophy (MSA).
Data show that copy number loss of SHC2 strongly indicates a causal link to multiple system atrophy.
Title: Copy number loss of (src homology 2 domain containing)-transforming protein 2 (SHC2) gene: discordant loss in monozygotic twins and frequent loss in patients with multiple system atrophy.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	HIV-1 Tat-induced small GTPase Ras activation is mediated by tyrosine phosphorylation of Shc and recruitment of Grb2 in human endothelial cells	PubMed
	tat	HIV-1 Tat activates the MAPK signaling pathway leading to the phosphorylation of Shc, a protein involved in signal transduction downstream of receptor tyrosine kinase activation	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH41850 (e-PCR)
- UniSTS:72295

WI-14847 (e-PCR)
- UniSTS:66454

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables receptor tyrosine kinase binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in cell surface receptor protein tyrosine kinase signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in intracellular signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cellular_component	ND No biological Data available more info
located_in cytosol	TAS Traceable Author Statement more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: SHC-transforming protein 2

Names: SH2 domain protein C2; SHC (Src homology 2 domain containing) transforming protein 2; SHC-transforming protein B; neuronal Shc adaptor homolog; protein Sck; src homology 2 domain-containing-transforming protein C2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001387056.1 → NP_001373985.1 SHC-transforming protein 2 isoform 2

Status: VALIDATED

Source sequence(s)

AC006124, AC008988, AC138433

Conserved Domains (2) summary

cd09925
Location:434 → 537

SH2_SHC; Src homology 2 (SH2) domain found in SH2 adaptor protein C (SHC)

cd01209
Location:138 → 307

PTB_Shc; Shc-like phosphotyrosine-binding (PTB) domain
NM_012435.3 → NP_036567.2 SHC-transforming protein 2 isoform 1

See identical proteins and their annotated locations for NP_036567.2

Status: VALIDATED

Source sequence(s)

AC006124, AC008988, AC138433

Consensus CDS

CCDS45891.1

UniProtKB/Swiss-Prot

O60230, P98077, Q9NPL5, Q9UCX4

Related

ENSP00000264554.4, ENST00000264554.11

Conserved Domains (2) summary

cd09925
Location:479 → 582

SH2_SHC; Src homology 2 (SH2) domain found in SH2 adaptor protein C (SHC)

cd01209
Location:138 → 307

PTB_Shc; Shc-like phosphotyrosine-binding (PTB) domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

416589..461033 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011527894.3 → XP_011526196.1 SHC-transforming protein 2 isoform X2

Conserved Domains (2) summary

cd01209
Location:138 → 307

PTB_Shc; Shc-like phosphotyrosine-binding (PTB) domain

cl15255
Location:434 → 497

SH2; Src homology 2 (SH2) domain
XM_011527893.4 → XP_011526195.1 SHC-transforming protein 2 isoform X1

Conserved Domains (2) summary

cd01209
Location:138 → 307

PTB_Shc; Shc-like phosphotyrosine-binding (PTB) domain

cl15255
Location:479 → 542

SH2; Src homology 2 (SH2) domain
XM_011527896.3 → XP_011526198.1 SHC-transforming protein 2 isoform X3

Conserved Domains (2) summary

cd01209
Location:1 → 150

PTB_Shc; Shc-like phosphotyrosine-binding (PTB) domain

cl15255
Location:322 → 385

SH2; Src homology 2 (SH2) domain
XM_047438565.1 → XP_047294521.1 SHC-transforming protein 2 isoform X3