• Gene id: 84498

Gene Summary

• Gene Symbol: FAM120B   Gene   UCSC   Ensembl
• Aliases: CCPG, KIAA1838, PGCC1, SAN1, dJ894D12.1
• Gene name: family with sequence similarity 120B
• Alternate names: constitutive coactivator of peroxisome proliferator-activated receptor gamma, PPARG constitutive coactivator 1, PPARgamma constitutive coactivator 1, constitutive coactivator of PPAR-gamma, senataxin-associated nuclease 1,
• Gene location: 6q27 (170290702: 170407747)     Exons: 15     NC_000006.12
• OMIM: 612266

SNPs

rs55763075

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

NC_000001.11   g.11790377C>T
NC_000001.10   g.11850434C>T
NG_013351.1   g.20727G>A
NM_005957.5   c.*303G>A
NM_005957.4   c.*303G>A
NM_001330358.1   c.*303G>A
XM_005263460.5   c.*303G>A
XM_005263460.1   c.*303G>A
XM_005263463.4   c.*303G>A
XM_005263463.1   c.*303G>A
XM_0  

Protein Summary

• Protein general information: Q96EK7  
  • Name: Constitutive coactivator of peroxisome proliferator activated receptor gamma (Constitutive coactivator of PPAR gamma) (Constitutive coactivator of PPARG) (PPARG constitutive coactivator 1) (PGCC1) (Protein FAM120B)
  • Length: 910  
  • Mass: 103783
  • Tissue specificity: Widely expressed. {ECO
• Sequence:

  MGVRGLQGFVGSTCPHICTVVNFKELAEHHRSKYPGCTPTIVVDAMCCLRYWYTPESWICGGQWREYFSALRDFV
  KTFTAAGIKLIFFFDGMVEQDKRDEWVKRRLKNNREISRIFHYIKSHKEQPGRNMFFIPSGLAVFTRFALKTLGQ
  ETLCSLQEADYEVASYGLQHNCLGILGEDTDYLIYDTCPYFSISELCLESLDTVMLCREKLCESLGLCVADLPLL
  ACLLGNDIIPEGMFESFRYKCLSSYTSVKENFDKKGNIILAVSDHISKVLYLYQGEKKLEEILPLGPNKALFYKG
  MASYLLPGQKSPWFFQKPKGVITLDKQVISTSSDAESREEVPMCSDAESRQEVPMCTGPESRREVPVYTDSEPRQ
  EVPMCSDPEPRQEVPTCTGPESRREVPMCSDPEPRQEVPMCTGPEARQEVPMYTDSEPRQEVPMYTDSEPRQEVP
  MYTGSEPRQEVPMYTGPESRQEVPMYTGPESRQEVLIRTDPESRQEIMCTGHESKQEVPICTDPISKQEDSMCTH
  AEINQKLPVATDFEFKLEALMCTNPEIKQEDPTNVGPEVKQQVTMVSDTEILKVARTHHVQAESYLVYNIMSSGE
  IECSNTLEDELDQALPSQAFIYRPIRQRVYSLLLEDCQDVTSTCLAVKEWFVYPGNPLRHPDLVRPLQMTIPGGT
  PSLKILWLNQEPEIQVRRLDTLLACFNLSSSREELQAVESPFQALCCLLIYLFVQVDTLCLEDLHAFIAQALCLQ
  GKSTSQLVNLQPDYINPRAVQLGSLLVRGLTTLVLVNSACGFPWKTSDFMPWNVFDGKLFHQKYLQSEKGYAVEV
  LLEQNRSRLTKFHNLKAVVCKACMKENRRITGRAHWGSHHAGRWGRQGSSYHRTGSGYSRSSQGQPWRDQGPGSR
  QYEHDQWRRY

• Structural information:
  • Interpro: IPR026784  IPR029060  
  • STRING: ENSP00000440125
• Other Databases: GeneCards:  FAM120B  Malacards:  FAM120B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0035357	peroxisome proliferator activated receptor signaling pathway	IBA	biological process
GO:0045444	fat cell differentiation	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0042025	host cell nucleus	IEA	cellular component
GO:0030154	cell differentiation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq