• Gene id: 10044

Gene Summary

• Gene Symbol: SH2D3C   Gene   UCSC   Ensembl
• Aliases: CHAT, NSP3, PRO34088, SHEP1
• Gene name: SH2 domain containing 3C
• Alternate names: SH2 domain-containing protein 3C, SH2 domain-containing Eph receptor-binding protein 1, cas/HEF1-associated signal transducer, chat-H, novel SH2-containing protein 3,
• Gene location: 9q34.11 (127778665: 127738316)     Exons: 16     NC_000009.12
• Gene summary(Entrez): 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
• OMIM: 606885

Protein Summary

• Protein general information: Q8N5H7  
  • Name: SH2 domain containing protein 3C (Cas/HEF1 associated signal transducer) (Chat H) (Novel SH2 containing protein 3) (SH2 domain containing Eph receptor binding protein 1) (SHEP1)
  • Length: 860  
  • Mass: 94411
  • Tissue specificity: [Isoform 1]
• Sequence:

  MTEGTKKTSKKFKFFKFKGFGSLSNLPRSFTLRRSSASISRQSHLEPDTFEATQDDMVTVPKSPPAYARSSDMYS
  HMGTMPRPSIKKAQNSQAARQAQEAGPKPNLVPGGVPDPPGLEAAKEVMVKATGPLEDTPAMEPNPSAVEVDPIR
  KPEVPTGDVEEERPPRDVHSERAAGEPEAGSDYVKFSKEKYILDSSPEKLHKELEEELKLSSTDLRSHAWYHGRI
  PREVSETLVQRNGDFLIRDSLTSLGDYVLTCRWRNQALHFKINKVVVKAGESYTHIQYLFEQESFDHVPALVRYH
  VGSRKAVSEQSGAIIYCPVNRTFPLRYLEASYGLGQGSSKPASPVSPSGPKGSHMKRRSVTMTDGLTADKVTRSD
  GCPTSTSLPRPRDSIRSCALSMDQIPDLHSPMSPISESPSSPAYSTVTRVHAAPAAPSATALPASPVARRSSEPQ
  LCPGSAPKTHGESDKGPHTSPSHTLGKASPSPSLSSYSDPDSGHYCQLQPPVRGSREWAATETSSQQARSYGERL
  KELSENGAPEGDWGKTFTVPIVEVTSSFNPATFQSLLIPRDNRPLEVGLLRKVKELLAEVDARTLARHVTKVDCL
  VARILGVTKEMQTLMGVRWGMELLTLPHGRQLRLDLLERFHTMSIMLAVDILGCTGSAEERAALLHKTIQLAAEL
  RGTMGNMFSFAAVMGALDMAQISRLEQTWVTLRQRHTEGAILYEKKLKPFLKSLNEGKEGPPLSNTTFPHVLPLI
  TLLECDSAPPEGPEPWGSTEHGVEVVLAHLEAARTVAHHGGLYHTNAEVKLQGFQARPELLEVFSTEFQMRLLWG
  SQGASSSQARRYEKFDKVLTALSHKLEPAVRSSEL

• Structural information:
  • Protein Domains: (220..31-)
    (/note="SH2-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00191-)
    (586..85-)
    (/note="Ras-GEF-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00168"-)
  • Interpro: IPR023578  IPR001895  IPR036964  IPR000980  IPR036860  
  • Prosite: PS50009 PS50001
  • PDB: 3T6G
  • PDBsum: 3T6G
  • DIP: 59443
  • STRING: ENSP00000317817
• Other Databases: GeneCards:  SH2D3C  Malacards:  SH2D3C

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0033138	positive regulation of peptidyl-serine phosphorylation	IBA	biological process
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0007264	small GTPase mediated signal transduction	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0007254	JNK cascade	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0032587	ruffle membrane	IEA	cellular component
GO:0030424	axon	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq