• Gene id: 221035

Gene Summary

• Gene Symbol: REEP3   Gene   UCSC   Ensembl
• Aliases: C10orf74, Yip2b
• Gene name: receptor accessory protein 3
• Alternate names: receptor expression-enhancing protein 3,
• Gene location: 10q21.3 (63521352: 63625127)     Exons: 10     NC_000010.11
• OMIM: 611373

SNPs

rs10822184

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

NC_000010.11   g.63577393T>C
NC_000010.11   g.63577393T>G
NC_000010.10   g.65337153T>C
NC_000010.10   g.65337153T>G|SEQ=[T/C/G]|GENE=REEP3

Protein Summary

• Protein general information: Q6NUK4  
  • Name: Receptor expression enhancing protein 3
  • Length: 255  
  • Mass: 29264
  • Tissue specificity: Expressed in circumvallate papillae. {ECO
• Sequence:

  MVSWMISRAVVLVFGMLYPAYYSYKAVKTKNVKEYVRWMMYWIVFALYTVIETVADQTVAWFPLYYELKIAFVIW
  LLSPYTKGASLIYRKFLHPLLSSKEREIDDYIVQAKERGYETMVNFGRQGLNLAATAAVTAAVKSQGAITERLRS
  FSMHDLTTIQGDEPVGQRPYQPLPEAKKKSKPAPSESAGYGIPLKDGDEKTDEEAEGPYSDNEMLTHKGLRRSQS
  MKSVKTTKGRKEVRYGSLKYKVKKRPQVYF

• Structural information:
  • Interpro: IPR004345  
  • STRING: ENSP00000362863
• Other Databases: GeneCards:  REEP3  Malacards:  REEP3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005881	cytoplasmic microtubule	IBA	cellular component
GO:0016020	membrane	IBA	cellular component
GO:0005789	endoplasmic reticulum membrane	IBA	cellular component
GO:0008017	microtubule binding	IBA	molecular function
GO:0071782	endoplasmic reticulum tubular network	IBA	cellular component
GO:0071786	endoplasmic reticulum tubular network organization	IBA	biological process
GO:0006998	nuclear envelope organization	IMP	biological process
GO:0007084	mitotic nuclear envelope reassembly	IMP	biological process
GO:0051301	cell division	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005874	microtubule	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R