Sh2d3c SH2 domain containing 3C [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Sh2d3cprovided by MGI
Official Full Name: SH2 domain containing 3Cprovided by MGI
Primary source: MGI:MGI:1351631
See related: Ensembl:ENSMUSG00000059013 AllianceGenome:MGI:1351631
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Chat; Nsp3; Shep1
Summary: Predicted to enable transmembrane receptor protein tyrosine kinase adaptor activity. Predicted to be involved in cell surface receptor protein tyrosine kinase signaling pathway and small GTPase-mediated signal transduction. Predicted to act upstream of or within signal transduction. Predicted to be located in cytosol. Orthologous to human SH2D3C (SH2 domain containing 3C). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in lung adult (RPKM 40.4), spleen adult (RPKM 34.7) and 24 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 B; 2 22.09 cM

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (32611072..32645008)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (32721037..32755007)

Chromosome 2 - NC_000068.8 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Chat-H regulates atherosclerosis development by controlling monocyte adhesion and recruitment to the plaques.
Title: Monocyte Adhesion and Plaque Recruitment During Atherosclerosis Development Is Regulated by the Adapter Protein Chat-H/SHEP1.
Shep1 plays a critical role in the in vivo regulation of Src activity and Cas downstream signaling through Crk protein.
Title: The SH2 domain protein Shep1 regulates the in vivo signaling function of the scaffolding protein Cas.
SHEP1 and CasL are constitutively associated in B cells.
Title: SHEP1 partners with CasL to promote marginal zone B-cell maturation.
Shep1 plays an important role in the early ingrowth of peripheral olfactory sensory axons into the forebrain.
Title: The SRC homology 2 domain protein Shep1 plays an important role in the penetration of olfactory sensory axons into the forebrain.
Sh2d3c is required for proper localization of cells, particularly marginal zone B cells in vivo; thymi of Sh2d3c-deficient mice show no maturational abnormalities.
Title: The adaptor protein Sh2d3c is critical for marginal zone B cell development and function.
glutamic acid mutation of tyrosine 635 makes SHEP1 unable to promote Cas-Crk association, membrane ruffling, and cell migration toward epidermal growth factor (EGF), implying that these activities of SHEP1 depend upon a physical interaction with Cas
Title: SHEP1 function in cell migration is impaired by a single amino acid mutation that disrupts association with the scaffolding protein cas but not with Ras GTPases.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (4) 1 citation

General gene information

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Markers

D2S171 (e-PCR)
- UniSTS:73301

RH125583 (e-PCR)
- UniSTS:162397

AA517851 (e-PCR)
- UniSTS:185470

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables guanyl-nucleotide exchange factor activity	IEA Inferred from Electronic Annotation more info
enables phosphotyrosine residue binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transmembrane receptor protein tyrosine kinase adaptor activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in cell surface receptor protein tyrosine kinase signaling pathway	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within signal transduction	TAS Traceable Author Statement more info	PubMed
involved_in small GTPase-mediated signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in axon	IEA Inferred from Electronic Annotation more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in ruffle membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: SH2 domain-containing protein 3C

Names: Cas/HEF1-associated signal transducer; SH2 domain-containing Eph receptor-binding protein 1; novel SH2-containing protein 3

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_001252547.2 → NP_001239476.1 SH2 domain-containing protein 3C isoform 2

See identical proteins and their annotated locations for NP_001239476.1

Status: VALIDATED

Source sequence(s)

AL772271

Consensus CDS

CCDS57168.1

UniProtKB/Swiss-Prot

Q9QZS8

Related

ENSMUSP00000108868.3, ENSMUST00000113242.5

Conserved Domains (2) summary

cd10337
Location:56 → 190

SH2_BCAR3; Src homology 2 (SH2) domain in the Breast Cancer Anti-estrogen Resistance protein 3

cl02485
Location:427 → 604

RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases. Small GTP-binding proteins of the Ras superfamily function as molecular switches in fundamental events such as signal transduction, cytoskeleton dynamics and intracellular trafficking. ...
NM_001412517.1 → NP_001399446.1 SH2 domain-containing protein 3C isoform 3

Status: VALIDATED

Source sequence(s)

AL772271
NM_001412518.1 → NP_001399447.1 SH2 domain-containing protein 3C isoform 3

Status: VALIDATED

Source sequence(s)

AL772271
NM_001412519.1 → NP_001399448.1 SH2 domain-containing protein 3C isoform 3

Status: VALIDATED

Source sequence(s)

AL772271
NM_001412520.1 → NP_001399449.1 SH2 domain-containing protein 3C isoform 4

Status: VALIDATED

Source sequence(s)

AL772271
NM_001412521.1 → NP_001399450.1 SH2 domain-containing protein 3C isoform 5

Status: VALIDATED

Source sequence(s)

AL772271
NM_001412522.1 → NP_001399451.1 SH2 domain-containing protein 3C isoform 6

Status: VALIDATED

Source sequence(s)

AL772271
NM_001412523.1 → NP_001399452.1 SH2 domain-containing protein 3C isoform 7

Status: VALIDATED

Source sequence(s)

AL772271
NM_013781.4 → NP_038809.1 SH2 domain-containing protein 3C isoform 1

See identical proteins and their annotated locations for NP_038809.1

Status: VALIDATED

Source sequence(s)

AL772271

Consensus CDS

CCDS15928.1

UniProtKB/Swiss-Prot

A2AK84, Q9JME1, Q9QZS8

Related

ENSMUSP00000073866.5, ENSMUST00000074248.11

Conserved Domains (2) summary

cd10337
Location:208 → 342

SH2_BCAR3; Src homology 2 (SH2) domain in the Breast Cancer Anti-estrogen Resistance protein 3

cl02485
Location:579 → 756

RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases. Small GTP-binding proteins of the Ras superfamily function as molecular switches in fundamental events such as signal transduction, cytoskeleton dynamics and intracellular trafficking. ...

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000068.8 Reference GRCm39 C57BL/6J

Range

32611072..32645008

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006498095.4 → XP_006498158.1 SH2 domain-containing protein 3C isoform X1

Conserved Domains (2) summary

cd10337
Location:208 → 342

SH2_BCAR3; Src homology 2 (SH2) domain in the Breast Cancer Anti-estrogen Resistance protein 3

cl02485
Location:565 → 742

RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases. Small GTP-binding proteins of the Ras superfamily function as molecular switches in fundamental events such as signal transduction, cytoskeleton dynamics and intracellular trafficking. ...
XM_006498096.2 → XP_006498159.1 SH2 domain-containing protein 3C isoform X5

Conserved Domains (1) summary

cl02485
Location:230 → 407

RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases. Small GTP-binding proteins of the Ras superfamily function as molecular switches in fundamental events such as signal transduction, cytoskeleton dynamics and intracellular trafficking. ...
XM_036162272.1 → XP_036018165.1 SH2 domain-containing protein 3C isoform X4

Conserved Domains (2) summary

cd10337
Location:55 → 189

SH2_BCAR3; Src homology 2 (SH2) domain in the Breast Cancer Anti-estrogen Resistance protein 3

cl02485
Location:412 → 589

RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases. Small GTP-binding proteins of the Ras superfamily function as molecular switches in fundamental events such as signal transduction, cytoskeleton dynamics and intracellular trafficking. ...