• Gene id: 222584

Gene Summary

• Gene Symbol: FAM83B   Gene   UCSC   Ensembl
• Aliases: C6orf143
• Gene name: family with sequence similarity 83 member B
• Alternate names: protein FAM83B,
• Gene location: 6p12.1 (99200424: 99386503)     Exons: 11     NC_000013.11

Protein Summary

• Protein general information: Q5T0W9  
  • Name: Protein FAM83B
  • Length: 1011  
  • Mass: 114799
• Sequence:

  METSSMLSSLNDECKSDNYIEPHYKEWYRVAIDILIEHGLEAYQEFLVQERVSDFLAEEEINYILKNVQKVAQST
  AHGTDDSCDDTLSSGTYWPVESDVEAPNLDLGWPYVMPGLLGGTHIDLLFHPPRAHLLTIKETIRKMIKEARKVI
  ALVMDIFTDVDIFKEIVEASTRGVSVYILLDESNFNHFLNMTEKQGCSVQRLRNIRVRTVKGQDYLSKTGAKFHG
  KMEQKFLLVDCQKVMYGSYSYMWSFEKAHLSMVQIITGQLVESFDEEFRTLYARSCVPSSFAQEESARVKHGKAL
  WENGTYQHSVSSLASVSSQRNLFGRQDKIHKLDSSYFKNRGIYTLNEHDKYNIRSHGYKPHFVPNFNGPNAIRQF
  QPNQINENWKRHSYAGEQPETVPYLLLNRALNRTNNPPGNWKKPSDSLSVASSSREGYVSHHNTPAQSFANRLAQ
  RKTTNLADRNSNVRRSFNGTDNHIRFLQQRMPTLEHTTKSFLRNWRIESYLNDHSEATPDSNGSALGDRFEGYDN
  PENLKANALYTHSRLRSSLVFKPTLPEQKEVNSCTTGSSNSTIIGSQGSETPKEVPDTPTNVQHLTDKPLPESIP
  KLPLQSEAPKMHTLQVPENHSVALNQTTNGHTESNNYIYKTLGVNKQTENLKNQQTENLLKRRSFPLFDNSKANL
  DPGNSKHYVYSTLTRNRVRQPEKPKEDLLKSSKSMHNVTHNLEEDEEEVTKRNSPSGTTTKSVSIAALLDVNKEE
  SNKELASKKEVKGSPSFLKKGSQKLRSLLSLTPDKKENLSKNKAPAFYRLCSSSDTLVSEGEENQKPKKSDTKVD
  SSPRRKHSSSSNSQGSIHKSKEDVTVSPSQEINAPPDENKRTPSPGPVESKFLERAGDASAPRFNTEQIQYRDSR
  EINAVVTPERRPTSSPRPTSSELLRSHSTDRRVYSRFEPFCKIESSIQPTSNMPNTSINRPEIKSATMGNSYGRS
  SPLLNYNTGVYRSYQPNENKFRGFMQKFGNFIHKNK

• Structural information:
  • Interpro: IPR012461  
  • PDB: 5LZK 5QHI 5QHJ 5QHK 5QHL 5QHM 5QHN 5QHO 5QHP 5QHQ 5QHR 5QHS
  • PDBsum: 5LZK 5QHI 5QHJ 5QHK 5QHL 5QHM 5QHN 5QHO 5QHP 5QHQ 5QHR 5QHS
  • STRING: ENSP00000304078
• Other Databases: GeneCards:  FAM83B  Malacards:  FAM83B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007165	signal transduction	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0007173	epidermal growth factor receptor signaling pathway	IBA	biological process
GO:0016020	membrane	IBA	cellular component
GO:0019901	protein kinase binding	IBA	molecular function
GO:0016020	membrane	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0004630	phospholipase D activity	IDA	NOT|molecular function
GO:0019901	protein kinase binding	IDA	molecular function
GO:0007173	epidermal growth factor receptor signaling pathway	IDA	biological process
GO:0005154	epidermal growth factor receptor binding	IPI	molecular function
GO:0036312	phosphatidylinositol 3-kinase regulatory subunit binding	IPI	molecular function
GO:0036313	phosphatidylinositol 3-kinase catalytic subunit binding	IPI	molecular function
GO:0008283	cell population proliferation	IMP	biological process
GO:0007173	epidermal growth factor receptor signaling pathway	IMP	biological process
GO:0019901	protein kinase binding	IPI	molecular function
GO:0007173	epidermal growth factor receptor signaling pathway	IMP	biological process
GO:0019901	protein kinase binding	IPI	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	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)