FEM1B: Polycystic Ovarian Syndrome Database

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FEM1B

Gene Information

SNPs

Gene Ontology (GO)

Protein Information

Associated Diseases

Pathways

References

Gene Information

Gene Symbol

FEM1B

Aliases

F1A-ALPHA, F1AA, FEM1-beta

Entrez Gene ID

10116

Gene Name

Fem-1 homolog B

Chromosomal Location

15q23

HGNC ID

HGNC:3649

Summary

This gene encodes an ankyrin repeat protein that belongs to the death receptor-associated family of proteins and plays a role in mediating apoptosis. The encoded protein is also thought to function in the replication stress-induced checkpoint signaling pathway via interaction with checkpoint kinase 1. [provided by RefSeq, Aug 2013]

e!Ensembl

Gene	ENSG00000169018
Transcript	ENST00000306917, ENST00000570067, ENST00000566739, ENST00000566008
Protein	ENSP00000307298, ENSP00000457002, ENSP00000457342, ENSP00000456968

SNPs

SNP Id	Upstream Sequence	SNP	Downstream Sequence	Functional Significance	References
rs10152450	CGATTACTACGCCTACAGCCCTGTGC	A/G	GGAGCGGGACGCCCACTCCGTCCTC	Intron variant,upstream variant 2KB	18757445

Gene Ontology (GO)

Show/Hide all(10 )

GO ID	Ontology	Function	Evidence	Reference
GO:0006915	Biological process	Apoptotic process	NAS	10623617
GO:0051438	Biological process	Regulation of ubiquitin-protein transferase activity	IMP	15601820
GO:1902041	Biological process	Regulation of extrinsic apoptotic signaling pathway via death domain receptors	IMP	10542291
GO:2000001	Biological process	Regulation of DNA damage checkpoint	IMP	19330022
GO:0005634	Cellular component	Nucleus	IDA	19330022
GO:0005737	Cellular component	Cytoplasm	IDA	19330022
GO:0004842	Molecular function	Ubiquitin-protein transferase activity	IMP	15601820
GO:0005123	Molecular function	Death receptor binding	IMP	10542291
GO:0005123	Molecular function	Death receptor binding	NAS	10623617
GO:0005515	Molecular function	Protein binding	IPI	11559703, 17003112, 19330022

Protein Information

Protein Name

Protein fem-1 homolog B, FEM-1-like death receptor binding protein, fem-1-like death receptor-binding protein alpha, fem-1-like in apoptotic pathway protein alpha

Function

Component of an E3 ubiquitin-protein ligase complex, in which it may act as a substrate recognition subunit. Involved in apoptosis by acting as a death receptor-associated protein that mediates apoptosis. Also involved in glucose homeostasis in pancreatic islet. Functions as an adapter/mediator in replication stress-induced signaling that leads to the activation of CHEK1.

UniProt

Q9UK73

Pfam

Pfam Accession	Pfam ID
PF00023	Ank
PF12796	Ank_2

Pathways
	Reactome
		Neddylation

Interactions

STRING	MINT	IntAct
ENSP00000233893		P61604

View interactions

Associated Diseases

Show/Hide all(3 )

Disease group	Disease Name	References
Endocrine System Diseases
	PCOS	18757445, 20200332
	Bardet Biedl Syndrome	10768616
Neoplasms
	Leukemia	27644318
	Colonic Neoplasms	19855191, 19908242
	Lymphoma	23975159
Respiratory Tract Diseases
Respiratory Tract Diseases	Pulmonary Fibrosis	30756084

References

Show/Hide all(2)

PubMed ID	Associated gene/s	Associated condition	Genetic Mutation	Diagnostic Criteria	Association with PCOS	Ethnicity	Conclusion
18757445	FEM1A,FEM1C	Insulin-related traits	FEM1B SNP rs10152450,FEM1B SNP rs12909277	Elevation of circulating androgen levels, either testosterone (T) or nonsex hormone-binding globulin-bound testosterone (uT) associated with chronic oligomenorrhea (6 menses per year) or amenorrhea	Related		This study presents evidence suggesting a role for FEM1A and FEM1B in the pathogenesis of PCOS.
20200332	FBN3,ACVR2A, POMC and SGTA			Elevation of circulating androgen levels, either testosterone (T) or nonsex hormone-binding globulin-bound testosterone (uT) associated with chronic oligomenorrhea (6 menses per year) or amenorrhea	Related		A polymorphic variant, D19S884, in FBN3 is associated with risk of PCOS. POMC is also a candidate gene of interest. SGTA was found to be nominally significant

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