• Gene id: 3626

Gene Summary

• Gene Symbol: INHBC   Gene   UCSC   Ensembl
• Aliases: IHBC
• Gene name: inhibin subunit beta C
• Alternate names: inhibin beta C chain, activin beta-C chain, inhibin beta C subunit,
• Gene location: 12q13.3 (57434783: 57452061)     Exons: 2     NC_000012.12
• Gene summary(Entrez): This gene encodes a member of the TGF-beta (transforming growth factor-beta) superfamily of proteins. The encoded preproprotein is proteolytically processed to generate a subunit of homodimeric and heterodimeric activin complexes. The heterodimeric comple
• OMIM: 616909

SNPs

rs28368082

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

NC_000020.11   g.57335452C>T
NC_000020.10   g.55910508C>T
XM_005260382.4   c.631C>T
XM_005260382.1   c.631C>T
XM_005260379.3   c.631C>T
XM_005260379.1   c.631C>T
XM_005260380.3   c.631C>T
XM_005260380.1   c.631C>T
XM_005260381.3   c.631C>T
XM_005260381.1   c.631C>T
NM_0  

rs28368064

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

NC_000020.11   g.57330052G>A
NC_000020.11   g.57330052G>T
NC_000020.10   g.55905108G>A
NC_000020.10   g.55905108G>T|SEQ=[G/A/T]|GENE=SPO11
LOC105372687   105372687

rs28368062

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

NC_000020.11   g.57329973A>C
NC_000020.11   g.57329973A>G
NC_000020.11   g.57329973A>T
NC_000020.10   g.55905029A>C
NC_000020.10   g.55905029A>G
NC_000020.10   g.55905029A>T
XM_005260382.4   c.106A>C
XM_005260382.4   c.106A>G
XM_005260382.4   c.106A>T
XM_005260382.1   c

rs3736832

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

NC_000020.11   g.57333213A>G
NC_000020.10   g.55908269A>G
XM_005260382.4   c.271A>G
XM_005260382.1   c.271A>G
XM_005260379.3   c.271A>G
XM_005260379.1   c.271A>G
XM_005260380.3   c.271A>G
XM_005260380.1   c.271A>G
XM_005260381.3   c.271A>G
XM_005260381.1   c.271A>G
NM_0  

Protein Summary

• Protein general information: P55103  
  • Name: Inhibin beta C chain (Activin beta C chain)
  • Length: 352  
  • Mass: 38238
  • Tissue specificity: Expressed in benign prostatic hyperplasia. {ECO
• Sequence:

  MTSSLLLAFLLLAPTTVATPRAGGQCPACGGPTLELESQRELLLDLAKRSILDKLHLTQRPTLNRPVSRAALRTA
  LQHLHGVPQGALLEDNREQECEIISFAETGLSTINQTRLDFHFSSDRTAGDREVQQASLMFFVQLPSNTTWTLKV
  RVLVLGPHNTNLTLATQYLLEVDASGWHQLPLGPEAQAACSQGHLTLELVLEGQVAQSSVILGGAAHRPFVAARV
  RVGGKHQIHRRGIDCQGGSRMCCRQEFFVDFREIGWHDWIIQPEGYAMNFCIGQCPLHIAGMPGIAASFHTAVLN
  LLKANTAAGTTGGGSCCVPTARRPLSLLYYDRDSNIVKTDIPDMVVEACGCS

• Structural information:
  • Interpro: IPR029034  IPR001318  IPR001839  IPR015615  IPR017948  
  • Prosite: PS00250 PS51362
  • STRING: ENSP00000308716
• Other Databases: GeneCards:  INHBC  Malacards:  INHBC

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0060395	SMAD protein signal transduction	IBA	biological process
GO:0005615	extracellular space	IBA	cellular component
GO:0005125	cytokine activity	IBA	molecular function
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IBA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0005179	hormone activity	IEA	molecular function
GO:0008083	growth factor activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005179	hormone activity	IEA	molecular function
GO:0008083	growth factor activity	IEA	molecular function
GO:0005160	transforming growth factor beta receptor binding	TAS	molecular function
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04060	Cytokine-cytokine receptor interaction
hsa04550	Signaling pathways regulating pluripotency of stem cells
hsa04350	TGF-beta signaling pathway

Diseases

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

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881