• Gene id: 57465

Gene Summary

• Gene Symbol: TBC1D24   Gene   UCSC   Ensembl
• Aliases: DFNA65, DFNB86, DOORS, EIEE16, EPRPDC, FIME, TLDC6
• Gene name: TBC1 domain family member 24
• Alternate names: TBC1 domain family member 24, TBC/LysM-associated domain containing 6, skywalker homolog,
• Gene location: 16p13.3 (2475103: 2509668)     Exons: 10     NC_000016.10
• Gene summary(Entrez): This gene encodes a protein with a conserved domain, referred to as the TBC domain, characteristic of proteins which interact with GTPases. TBC domain proteins may serve as GTPase-activating proteins for a particular group of GTPases, the Rab (Ras-related

Protein Summary

• Protein general information: Q9ULP9  
  • Name: TBC1 domain family member 24
  • Length: 559  
  • Mass: 62919
  • Tissue specificity: Highest expression in brain. {ECO
• Sequence:

  MDSPGYNCFVDKDKMDAAIQDLGPKELSCTELQELKQLARQGYWAQSHALRGKVYQRLIRDIPCRTVTPDASVYS
  DIVGKIVGKHSSSCLPLPEFVDNTQVPSYCLNARGEGAVRKILLCLANQFPDISFCPALPAVVALLLHYSIDEAE
  CFEKACRILACNDPGRRLIDQSFLAFESSCMTFGDLVNKYCQAAHKLMVAVSEDVLQVYADWQRWLFGELPLCYF
  ARVFDVFLVEGYKVLYRVALAILKFFHKVRAGQPLESDSVKQDIRTFVRDIAKTVSPEKLLEKAFAIRLFSRKEI
  QLLQMANEKALKQKGITVKQKSVSLSKRQFVHLAVHAENFRSEIVSVREMRDIWSWVPERFALCQPLLLFSSLQH
  GYSLARFYFQCEGHEPTLLLIKTTQKEVCGAYLSTDWSERNKFGGKLGFFGTGECFVFRLQPEVQRYEWVVIKHP
  ELTKPPPLMAAEPTAPLSHSASSDPADRLSPFLAARHFNLPSKTESMFMAGGSDCLIVGGGGGQALYIDGDLNRG
  RTSHCDTFNNQPLCSENFLIAAVEAWGFQDPDTQ

• Structural information:
  • Protein Domains: (47..26-)
    (/note="Rab-GAP-TBC)
    (343..55-)
    (/note="TLDc-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01234"-)
  • Interpro: IPR000195  IPR035969  IPR040149  IPR006571  
  • Prosite: PS51886
  • STRING: ENSP00000293970
• Other Databases: GeneCards:  TBC1D24  Malacards:  TBC1D24

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043195	terminal bouton	ISS	cellular component
GO:0031594	neuromuscular junction	ISS	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0031175	neuron projection development	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0031175	neuron projection development	IEA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0045202	synapse	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0036475	neuron death in response to oxidative stress	IDA	biological process
GO:0031175	neuron projection development	IDA	biological process
GO:0030659	cytoplasmic vesicle membrane	IEA	cellular component
GO:0098793	presynapse	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0030054	cell junction	IDA	cellular component
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:1902017	regulation of cilium assembly	IMP	NOT|biological process

Diseases

Associated diseases	References
Early infantile epileptic encephalopathy	KEGG:H00606
Deafness, autosomal recessive	KEGG:H00605
Deafness, autosomal dominant	KEGG:H00604
Familial infantile myoclonic epilepsy	KEGG:H02212
DOORS syndrome	KEGG:H02218
Early infantile epileptic encephalopathy	KEGG:H00606
Deafness, autosomal recessive	KEGG:H00605
Deafness, autosomal dominant	KEGG:H00604
Malignant migrating partial seizures in infancy	KEGG:H01815
Familial infantile myoclonic epilepsy	KEGG:H02212
DOORS syndrome	KEGG:H02218
Nonsyndromic deafness	PMID:26371875
Childhood onset epileptic encephalopathy	PMID:23526554
Visual epilepsy	PMID:20797691
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