FBXO43 (F-box protein 43)

Gene

• Entrez ID: 286151
• Gene name: F-box protein 43
• Gene symbol: FBXO43
• Synonyms (NCBI Gene): EMI2, ERP1, FBX43, OOMD12, OZEMA12, SPGF64
• Chromosome: 8
• Chromosome location: 8q22.2
• Summary: Members of the F-box protein family, such as FBXO43, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box pr

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1994346	hsa-miR-203	CLIP-seq
MIRT1994347	hsa-miR-4765	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183, 34595750
GO:0005634	Component	Nucleus	IBA
GO:0007088	Process	Regulation of mitotic nuclear division	IBA
GO:0007088	Process	Regulation of mitotic nuclear division	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0010948	Process	Negative regulation of cell cycle process	IEA
GO:0010948	Process	Negative regulation of cell cycle process	IMP	34052850
GO:0016567	Process	Protein ubiquitination	IEA
GO:0045835	Process	Negative regulation of meiotic nuclear division	IBA
GO:0045835	Process	Negative regulation of meiotic nuclear division	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051321	Process	Meiotic cell cycle	IEA
GO:1990090	Process	Cellular response to nerve growth factor stimulus	IEA

Other IDs

• MIM: 609110
• HGNC: 28521
• e!Ensembl: ENSG00000156509

Protein

• UniProt ID: Q4G163
• Protein name: F-box only protein 43 (Endogenous meiotic inhibitor 2)
• Protein function: Required to establish and maintain the arrest of oocytes at the second meiotic metaphase until fertilization. Acts by inhibiting the anaphase-promoting complex/cyclosome (APC/C) ubiquitin ligase. Probably recognizes and binds to some phosphoryla
• Tissue specificity: TISSUE SPECIFICITY: Expressed in the testis. {ECO:0000269|PubMed:34595750}.
• Sequence:

  MSFKDKDERISCLEAYVTLTSKSSRFTDETEILKMSQRHSGQAGTEAGNGADSPPIVNSK
  YSTFRDFCSTSSFQDSGYNELKSCSFDNIDKEYLGKKEKGPTLLYEHPETSGLGLTHPLE
  SPTQKKKCILPRKEKDKTPELCETPKISGKKCLPRRRLNVSFALLKGDFESQNSSLESSI
  SQVINLEKNIPSSASGFSRANNFSPLVTSTLKTEEVTSCSQKLRLNFSQQKTSTIDDSKD
  DCSLFEVECISPIQGNNFKDSITHDFSDSSLCINDENACPELLGSSVSGTTCGTDEDIFV
  TPISNLVANIRFNASQILSPSPEVRGSISTPEDSGFNSLSLEKSEDSLSDQEGSFQELLQ
  KHKGTPKVGDTIRKTRHLGRSRRLSTLREQSSQSETEEEKQIVHPDSEKRAAAASAISEG
  QLSSDESGDLTFSLKNLSKTPALQLVHELFMKSKRKRLQENSGHEFLEQGDGEKIAVLQC
  ILAGLIGKKMGIEKLDILTELKYRNLKHILAMVLESLTAESLCSVWKVSRNWREIVVQDK
  NANRRRKFYITQLKTDSEGAVLNVEDAATRLQLLNRSALRSVQAQARIPGSQREQGSTLS
  PWGEVLTPLASSSVTHLSSKQEEYVKVAKTLFTDEALKPCPRCQSPAKYQPYKKRGLCSR
  TACGFDFCVLCLCAYHGSEECSRGAAKPRNRKDALPGSAQSKRNLKRL

• Sequence length: 708

Pathways

KEGG:

Oocyte meiosis

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Oocyte maturation defect 12	Pathogenic	rs768989830, rs2132132474, rs2132138452	RCV001806466 RCV001806467 RCV001806468	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spermatogenic failure 64	Pathogenic	rs954702094, rs768989830	RCV001806464 RCV001806465	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
MALE INFERTILITY WITH AZOOSPERMIA OR OLIGOZOOSPERMIA DUE TO SINGLE GENE MUTATION	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 12	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Breast Neoplasms	Breast neoplasm	Pubtator	32253818	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	36710413	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	37250703	Associate	★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	30878252	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	32253818	Associate	★☆☆☆☆ Found in Text Mining only
Teratozoospermia	Teratozoospermia	BEFREE	30878252		★☆☆☆☆ Found in Text Mining only
Teratozoospermia	Teratozoospermia	Pubtator	30878252	Associate	★☆☆☆☆ Found in Text Mining only