• Gene id: 26240

Gene Summary

• Gene Symbol: FAM50B   Gene   UCSC   Ensembl
• Aliases: D6S2654E, X5L
• Gene name: family with sequence similarity 50 member B
• Alternate names: protein FAM50B, XAP5 like, XAP5-like protein,
• Gene location: 6p25.2 (3831900: 3851319)     Exons: 4     NC_000006.12
• Gene summary(Entrez): This gene contains an intronless ORF that arose from ancestral retroposition. The encoded protein is related to a plant protein that plays a role in the circadian clock. This gene is adjacent to a differentially methylated region (DMR) and is imprinted an
• OMIM: 614686

Protein Summary

• Protein general information: Q9Y247  
  • Name: Protein FAM50B (Protein XAP 5 like)
  • Length: 325  
  • Mass: 38,709
• Sequence:

  MAQYKGTMREAGRAMHLLKKRERQREQMEVLKQRIAEETILKSQVDKRFSAHYDAVEAELKSSTVGLVTLNDMKA
  RQEALVRERERQLAKRQHLEEQRLQQERQREQEQRRERKRKISCLSFALDDLDDQADAAEARRAGNLGKNPDVDT
  SFLPDRDREEEENRLREELRQEWEAQREKVKDEEMEVTFSYWDGSGHRRTVRVRKGNTVQQFLKKALQGLRKDFL
  ELRSAGVEQLMFIKEDLILPHYHTFYDFIIARARGKSGPLFSFDVHDDVRLLSDATMEKDESHAGKVVLRSWYEK
  NKHIFPASRWEAYDPEKKWDKYTIR

• Structural information:
  • Interpro: IPR007005  
  • STRING: ENSP00000369625
• Other Databases: GeneCards:  FAM50B  Malacards:  FAM50B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
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
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Male factor infertility	MIK: 26804237
Defective human spermatozoa	MIK: 26804237
Asthenozoospermia	MIK: 26804237
Defective human spermatozoa	MIK: 26804237
Male infertility	MIK: 26804237
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
26804237	Asthenozoospermia, Male infertility			95 (46 Asthenozoospermia patients and 49 age-matched normal controls)	Male infertility
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)