• Gene id: 1154

Gene Summary

• Gene Symbol: CISH   Gene   UCSC   Ensembl
• Aliases: BACTS2, CIS, CIS-1, G18, SOCS
• Gene name: cytokine inducible SH2 containing protein
• Alternate names: cytokine-inducible SH2-containing protein, cytokine-inducible inhibitor of signaling type 1B, suppressor of cytokine signaling,
• Gene location: 3p21.2 (160929410: 160563119)     Exons: 28     NC_000005.10
• Gene summary(Entrez): The protein encoded by this gene contains a SH2 domain and a SOCS box domain. The protein thus belongs to the cytokine-induced STAT inhibitor (CIS), also known as suppressor of cytokine signaling (SOCS) or STAT-induced STAT inhibitor (SSI), protein family
• OMIM: 602441

SNPs

rs13206743

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.52152310T>C
NC_000006.11   g.52017108T>C|SEQ=[T/C]|GENE=LINCMD1

Protein Summary

• Protein general information: Q9NSE2  
  • Name: Cytokine inducible SH2 containing protein (CIS) (CIS 1) (Protein G18) (Suppressor of cytokine signaling) (SOCS)
  • Length: 258  
  • Mass: 28663
  • Tissue specificity: Expressed in various epithelial tissues. Abundantly expressed in liver and kidney, and to a lesser extent in lung. The tissue distribution of isoforms 1 and 1B is distinct. {ECO
• Sequence:

  MVLCVQGPRPLLAVERTGQRPLWAPSLELPKPVMQPLPAGAFLEEVAEGTPAQTESEPKVLDPEEDLLCIAKTFS
  YLRESGWYWGSITASEARQHLQKMPEGTFLVRDSTHPSYLFTLSVKTTRGPTNVRIEYADSSFRLDSNCLSRPRI
  LAFPDVVSLVQHYVASCTADTRSDSPDPAPTPALPMPKEDAPSDPALPAPPPATAVHLKLVQPFVRRSSARSLQH
  LCRLVINRLVADVDCLPLPRRMADYLRQYPFQL

• Structural information:
  • Protein Domains: (82..16-)
    (/note="SH2-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00191-)
    (209..25-)
    (/note="SOCS-box)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00194"-)
  • Interpro: IPR028425  IPR035887  IPR000980  IPR036860  IPR001496   IPR036036  
  • Prosite: PS50001 PS50225
  • CDD: cd10718
  • STRING: ENSP00000409346
• Other Databases: GeneCards:  CISH  Malacards:  CISH

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0046854	phosphatidylinositol phosphorylation	IBA	biological process
GO:0005942	phosphatidylinositol 3-kinase complex	IBA	cellular component
GO:0046935	1-phosphatidylinositol-3-kinase regulator activity	IBA	molecular function
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0009968	negative regulation of signal transduction	IEA	biological process
GO:0040008	regulation of growth	IEA	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0038111	interleukin-7-mediated signaling pathway	TAS	biological process
GO:0043687	post-translational protein modification	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0007205	protein kinase C-activating G protein-coupled receptor signaling pathway	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0043551	regulation of phosphatidylinositol 3-kinase activity	IEA	biological process
GO:0016567	protein ubiquitination	IEA	biological process
GO:0035556	intracellular signal transduction	NAS	biological process
GO:0005575	cellular_component	ND	cellular component
GO:0003674	molecular_function	ND	molecular function
GO:0001558	regulation of cell growth	NAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04630	JAK-STAT signaling pathway
hsa04917	Prolactin signaling pathway

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881