SH2D3C SH2 domain containing 3C [Homo sapiens (human)] - Gene

Summary

Official Symbol: SH2D3Cprovided by HGNC
Official Full Name: SH2 domain containing 3Cprovided by HGNC
Primary source: HGNC:HGNC:16884
See related: Ensembl:ENSG00000095370 MIM:604722; AllianceGenome:HGNC:16884
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CHAT; NSP3; SHEP1; PRO34088
Summary: This gene encodes an adaptor protein and member of a cytoplasmic protein family involved in cell migration. The encoded protein contains a putative Src homology 2 (SH2) domain and guanine nucleotide exchange factor-like domain which allows this signaling protein to form a complex with scaffolding protein Crk-associated substrate. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
Expression: Broad expression in spleen (RPKM 12.4), lung (RPKM 10.5) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9q34.11

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (127738317..127778666, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (139945763..139986120, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (130500596..130540945, complement)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The structure of the NSP3-p130Cas complex reveals that this closed conformation is instrumental for interaction of NSP proteins with a focal adhesion-targeting domain present in Cas proteins.
Title: NSP-Cas protein structures reveal a promiscuous interaction module in cell signaling.
Observational study of gene-disease association. (HuGE Navigator)
Title: Follow-up association studies of chromosome region 9q and nonsyndromic cleft lip/palate.
NSP3 overexpression did not induce anti-estrogen resistance in breast tumor cell lines.
Title: AND-34/BCAR3 differs from other NSP homologs in induction of anti-estrogen resistance, cyclin D1 promoter activation and altered breast cancer cell morphology.
This protein positively regulates T cell receptor-mediated interleukin-2 production by Jurkat cells.
Title: A novel hematopoietic adaptor protein, Chat-H, positively regulates T cell receptor-mediated interleukin-2 production by Jurkat cells.
SH2D3C (SHEP1) is less highly expressed than BCAR3 and NSP1 in breast cancer cells, and the expression patterns suggest differential roles for the three genes during breast cancer progression.
Title: Splice variants and expression patterns of SHEP1, BCAR3 and NSP1, a gene family involved in integrin and receptor tyrosine kinase signaling.

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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

EBI GWAS Catalog

Description
Genetic variants associated with disordered eating. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-82506 (e-PCR)
- UniSTS:185018

WI-15876 (e-PCR)
- UniSTS:63203

Gene Ontology Provided by GOA

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

Process	Evidence Code	Pubs
involved_in JNK cascade	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	IDA Inferred from Direct Assay 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: SH2 domain-containing Eph receptor-binding protein 1; cas/HEF1-associated signal transducer; chat-H; 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.

Genomic

NG_030563.1 RefSeqGene

Range

5104..45453

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001142531.1 → NP_001136003.1 SH2 domain-containing protein 3C isoform c

See identical proteins and their annotated locations for NP_001136003.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) includes an alternate exon in the 5' end resulting in use of a downstream start codon, compared to variant 1. It encodes isoform c which has a shorter N-terminus than isoform a. Variants 3 and 4 both encode isoform c.

Source sequence(s)

AI799905, AK294386, CU455802, DA054525

Consensus CDS

CCDS48028.1

UniProtKB/TrEMBL

B4DG32

Conserved Domains (1) summary

cl02485
Location:231 → 400

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_001142532.1 → NP_001136004.1 SH2 domain-containing protein 3C isoform c

See identical proteins and their annotated locations for NP_001136004.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) includes an alternate exon in the 5' end resulting in use of a downstream start codon, compared to variant 1. It encodes isoform c which has a shorter N-terminus than isoform a. Variants 3 and 4 both encode isoform c.

Source sequence(s)

AI799905, AK311510, BX647905

Consensus CDS

CCDS48028.1

UniProtKB/TrEMBL

B4DG32

Related

ENSP00000394632.1, ENST00000429553.5

Conserved Domains (1) summary

cl02485
Location:231 → 400

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_001142533.1 → NP_001136005.1 SH2 domain-containing protein 3C isoform d

See identical proteins and their annotated locations for NP_001136005.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) includes an alternate exon in the 5' coding region, compared to variant 1. It encodes isoform d, which is shorter and has a distinct N-terminus compared to isoform a.

Source sequence(s)

AI799905, AK056068, CU455802

Consensus CDS

CCDS48026.1

UniProtKB/TrEMBL

A8K7M6

Related

ENSP00000388536.1, ENST00000420366.5

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:427 → 596

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_001142534.1 → NP_001136006.1 SH2 domain-containing protein 3C isoform e

Status: REVIEWED

Description

Transcript Variant: This variant (6) includes an alternate exon in the 5' coding region, compared to variant 1. It encodes isoform e, which is shorter and has a distinct N-terminus compared to isoform a.

Source sequence(s)

AI799905, AK291393, CU455802, DC302682

Consensus CDS

CCDS48027.1

UniProtKB/TrEMBL

A8K7M6

Related

ENSP00000485866.1, ENST00000629203.2

Conserved Domains (2) summary

cd10337
Location:53 → 187

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

cl02485
Location:425 → 594

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_001252334.2 → NP_001239263.1 SH2 domain-containing protein 3C isoform f

Status: REVIEWED

Description

Transcript Variant: This variant (7) differs in the 5' UTR and 5' coding region and initiates translation from an alternate start codon, compared to variant 1. The encoded isoform (f) has a distinct N-terminus and is shorter than isoform a.

Source sequence(s)

AI472242, AL162586, BX647905

Consensus CDS

CCDS59145.1

UniProtKB/TrEMBL

A8K7M6

Related

ENSP00000362373.3, ENST00000373276.7

Conserved Domains (2) summary

cd10337
Location:145 → 279

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

cl02485
Location:517 → 686

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_005489.4 → NP_005480.2 SH2 domain-containing protein 3C isoform b

See identical proteins and their annotated locations for NP_005480.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) includes alternate exons in the 5' coding region, compared to variant 1. It encodes isoform b, which is shorter and has a distinct N-terminus compared to isoform a.

Source sequence(s)

AL162426, BC027962, BI912337

Consensus CDS

CCDS6878.1

UniProtKB/TrEMBL

A8K7M6

Related

ENSP00000362374.4, ENST00000373277.8

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:428 → 597

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_170600.3 → NP_733745.1 SH2 domain-containing protein 3C isoform a

See identical proteins and their annotated locations for NP_733745.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).

Source sequence(s)

AI799905, BC032365, CU454732, DB161948

Consensus CDS

CCDS6877.1

UniProtKB/Swiss-Prot

A8K5S8, E9PG48, Q5HYE5, Q5JU31, Q6UY42, Q8N5H7, Q8N6X3, Q9Y2X5

UniProtKB/TrEMBL

A8K9K3

Related

ENSP00000317817.8, ENST00000314830.13

Conserved Domains (2) summary

cd10337
Location:213 → 347

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

cl02485
Location:585 → 754

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. ...