• Gene id: 359845

Gene Summary

• Gene Symbol: RFLNB   Gene   UCSC   Ensembl
• Aliases: CFM1, FAM101B
• Gene name: refilin B
• Alternate names: refilin-B, family with sequence similarity 101, member B, filamin-interacting protein FAM101B, protein FAM101B, refilinB, regulator of filamin protein B,
• Gene location: 17p13.3 (445939: 439977)     Exons: 2     NC_000017.11
• OMIM: 615928

Protein Summary

• Protein general information: Q8N5W9  
  • Name: Refilin B (Regulator of filamin protein B) (RefilinB)
  • Length: 214  
  • Mass: 22882
• Sequence:

  MVGRLSLQDVPELVDAKKKGDGVLDSPDSGLPPSPSPSHWGLAAGGGGGERAAAPGTLEPDAAAATPAAPSPASL
  PLAPGCALRLCPLSFGEGVEFDPLPPKEVRYTSLVKYDSERHFIDDVQLPLGLAVASCSQTVTCVPNGTWRNYKA
  EVRFEPRHRPTRFLSTTIVYPKYPKAVYTTTLDYNCRKTLRRFLSSVELEAAELPGSDDLSDEC

• Structural information:
  • Interpro: IPR028215  
  • STRING: ENSP00000331915
• Other Databases: GeneCards:  RFLNB  Malacards:  RFLNB

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1900158	negative regulation of bone mineralization involved in bone maturation	IBA	biological process
GO:0061572	actin filament bundle organization	IBA	biological process
GO:0061182	negative regulation of chondrocyte development	IBA	biological process
GO:0048705	skeletal system morphogenesis	IBA	biological process
GO:0031005	filamin binding	IBA	molecular function
GO:0032432	actin filament bundle	IBA	cellular component
GO:0031005	filamin binding	IEA	molecular function
GO:0061181	regulation of chondrocyte development	IEA	biological process
GO:0061572	actin filament bundle organization	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0031005	filamin binding	IDA	molecular function
GO:0015629	actin cytoskeleton	IEA	cellular component
GO:0030036	actin cytoskeleton organization	IEA	biological process
GO:0048705	skeletal system morphogenesis	IEA	biological process
GO:0061182	negative regulation of chondrocyte development	IEA	biological process
GO:0061572	actin filament bundle organization	IEA	biological process
GO:1900158	negative regulation of bone mineralization involved in bone maturation	IEA	biological process
GO:0001837	epithelial to mesenchymal transition	IEA	biological process
GO:0032432	actin filament bundle	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component

Diseases

Associated diseases	References
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)