• Gene id: 114781

Gene Summary

• Gene Symbol: BTBD9   Gene   UCSC   Ensembl
• Aliases: dJ322I12.1
• Gene name: BTB domain containing 9
• Alternate names: BTB/POZ domain-containing protein 9, BTB (POZ) domain containing 9,
• Gene location: 6p21.2 (38640540: 38168450)     Exons: 17     NC_000006.12
• Gene summary(Entrez): This locus encodes a BTB/POZ domain-containing protein. This domain is known to be involved in protein-protein interactions. Polymorphisms at this locus have been reported to be associated with susceptibility to Restless Legs Syndrome and may also be asso
• OMIM: 611239

Protein Summary

• Protein general information: Q96Q07  
  • Name: BTB/POZ domain containing protein 9
  • Length: 612  
  • Mass: 69188
  • Tissue specificity: Detected in the brain (at protein level) (PubMed
• Sequence:

  MSNSHPLRPFTAVGEIDHVHILSEHIGALLIGEEYGDVTFVVEKKRFPAHRVILAARCQYFRALLYGGMRESQPE
  AEIPLQDTTAEAFTMLLKYIYTGRATLTDEKEEVLLDFLSLAHKYGFPELEDSTSEYLCTILNIQNVCMTFDVAS
  LYSLPKLTCMCCMFMDRNAQEVLSSEGFLSLSKTALLNIVLRDSFAAPEKDIFLALLNWCKHNSKENHAEIMQAV
  RLPLMSLTELLNVVRPSGLLSPDAILDAIKVRSESRDMDLNYRGMLIPEENIATMKYGAQVVKGELKSALLDGDT
  QNYDLDHGFSRHPIDDDCRSGIEIKLGQPSIINHIRILLWDRDSRSYSYFIEVSMDELDWVRVIDHSQYLCRSWQ
  KLYFPARVCRYIRIVGTHNTVNKIFHIVAFECMFTNKTFTLEKGLIVPMENVATIADCASVIEGVSRSRNALLNG
  DTKNYDWDSGYTCHQLGSGAIVVQLAQPYMIGSIRLLLWDCDDRSYSYYVEVSTNQQQWTMVADRTKVSCKSWQS
  VTFERQPASFIRIVGTHNTANEVFHCVHFECPEQQSSQKEENSEESGTGDTSLAGQQLDSHALRAPSGSSLPSSP
  GSNSRSPNRQHQ

• Structural information:
  • Protein Domains: (36..10-)
    (/note="BTB-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00037-)
    (142..24-)
    (/note="BACK"-)
  • Interpro: IPR011705  IPR000210  IPR034091  IPR000421  IPR008979   IPR011333  
  • Prosite: PS50097
  • CDD: cd14822
  • STRING: ENSP00000418751
• Other Databases: GeneCards:  BTBD9  Malacards:  BTBD9

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008344	adult locomotory behavior	IBA	biological process
GO:0048512	circadian behavior	IBA	biological process
GO:0050804	modulation of chemical synaptic transmission	IBA	biological process
GO:0050951	sensory perception of temperature stimulus	IEA	biological process
GO:0048512	circadian behavior	IEA	biological process
GO:0042748	circadian sleep/wake cycle, non-REM sleep	IEA	biological process
GO:0042428	serotonin metabolic process	IEA	biological process
GO:0008344	adult locomotory behavior	IEA	biological process
GO:0007616	long-term memory	IEA	biological process
GO:1900242	regulation of synaptic vesicle endocytosis	IEA	biological process
GO:0060586	multicellular organismal iron ion homeostasis	IEA	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq