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

Gene ID: 10044, updated on 4-Jun-2020

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
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

Genomic context

See SH2D3C in Genome Data Viewer
Location:
9q34.11
Exon count:
16
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (127738317..127778666, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (130500596..130541048, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene peptidyl-tRNA hydrolase 1 homolog Neighboring gene cilia and flagella associated protein 157 Neighboring gene tetratricopeptide repeat domain 16 Neighboring gene torsin family 2 member A Neighboring gene Sharpr-MPRA regulatory region 4083 Neighboring gene uncharacterized LOC107987132 Neighboring gene Sharpr-MPRA regulatory region 7866 Neighboring gene Sharpr-MPRA regulatory region 2041 Neighboring gene microRNA 3960 Neighboring gene microRNA 2861 Neighboring gene cyclin dependent kinase 9

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ39664

Gene Ontology Provided by GOA

Function Evidence Code Pubs
guanyl-nucleotide exchange factor activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
JNK cascade TAS
Traceable Author Statement
more info
PubMed 
positive regulation of peptidyl-serine phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
small GTPase mediated signal transduction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
axon IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
ruffle membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

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)

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

  1. NG_030563.1 RefSeqGene

    Range
    5104..45453
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001142531.1NP_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:231400
    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. ...
  2. NM_001142532.1NP_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/Swiss-Prot
    Q8N5H7
    Related
    ENSP00000394632.1, ENST00000429553.5
    Conserved Domains (1) summary
    cl02485
    Location:231400
    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. ...
  3. NM_001142533.1NP_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/Swiss-Prot
    Q8N5H7
    Related
    ENSP00000388536.1, ENST00000420366.5
    Conserved Domains (2) summary
    cd10337
    Location:55189
    SH2_BCAR3; Src homology 2 (SH2) domain in the Breast Cancer Anti-estrogen Resistance protein 3
    cl02485
    Location:427596
    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. ...
  4. NM_001142534.1NP_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/Swiss-Prot
    Q8N5H7
    Related
    ENSP00000485866.1, ENST00000629203.2
    Conserved Domains (2) summary
    cd10337
    Location:53187
    SH2_BCAR3; Src homology 2 (SH2) domain in the Breast Cancer Anti-estrogen Resistance protein 3
    cl02485
    Location:425594
    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. ...
  5. NM_001252334.1NP_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, BI912337, BX647905
    Consensus CDS
    CCDS59145.1
    UniProtKB/Swiss-Prot
    Q8N5H7
    Related
    ENSP00000362373.3, ENST00000373276.7
    Conserved Domains (2) summary
    cd10337
    Location:145279
    SH2_BCAR3; Src homology 2 (SH2) domain in the Breast Cancer Anti-estrogen Resistance protein 3
    cl02485
    Location:517686
    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. ...
  6. NM_005489.4NP_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/Swiss-Prot
    Q8N5H7
    Related
    ENSP00000362374.4, ENST00000373277.8
    Conserved Domains (2) summary
    cd10337
    Location:56190
    SH2_BCAR3; Src homology 2 (SH2) domain in the Breast Cancer Anti-estrogen Resistance protein 3
    cl02485
    Location:428597
    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. ...
  7. NM_170600.3NP_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
    Q8N5H7
    Related
    ENSP00000317817.8, ENST00000314830.13
    Conserved Domains (2) summary
    cd10337
    Location:213347
    SH2_BCAR3; Src homology 2 (SH2) domain in the Breast Cancer Anti-estrogen Resistance protein 3
    cl02485
    Location:585754
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    127738317..127778666 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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