• Gene id: 255928

Gene Summary

• Gene Symbol: SYT14   Gene   UCSC   Ensembl
• Aliases: SCAR11, sytXIV
• Gene name: synaptotagmin 14
• Alternate names: synaptotagmin-14, synaptotagmin XIV,
• Gene location: 1q32.2 (209938164: 210171388)     Exons: 13     NC_000001.11
• Gene summary(Entrez): This gene is a member of the synaptotagmin gene family and encodes a protein similar to other family members that mediate membrane trafficking in synaptic transmission. The encoded protein is a calcium-independent synaptotagmin. Mutations in this gene are
• OMIM: 618423

Protein Summary

• Protein general information: Q8NB59  
  • Name: Synaptotagmin 14 (Synaptotagmin XIV) (SytXIV)
  • Length: 555  
  • Mass: 62287
  • Tissue specificity: Highly expressed in fetal and adult brain tissue. {ECO
• Sequence:

  MAIEGGERTCGVHELICIRKVSPEAVGFLSAVGVFIILMLLLFLYINKKFCFENVGGFPDLGSEYSTRKNSQDKI
  YNSYMDKDEHGSSSESEDEALGKYHEALSRTHNSRLPLADSRQRNYAWETRQKYSPLSAEYDGYSSEASIDEGNC
  IQRMRRTPPLDELQPPPYQDDSGSPHLSCTPSEIGDSKCEFSHCSNSPRCSYNKCPSEGSTGHEIESFHNKGYEE
  DVPSDSTAVLSPEDMSAQGSSSQLPKPFDPEPEAKYGTLDVTFDYDSQEQKLLVTVTAVTDIPTYNRTGGNSWQV
  HLVLLPIKKQRAKTSIQRGPCPVFTETFKFNHVESEMIGNYAVRFRLYGVHRMKKEKIVGEKIFYLTKLNLQGKM
  SLPVILEPSYNHSGCDSQMSVSEMSCSESTSSCQSLEHGSVPEILIGLLYNATTGRLSAEVIKGSHFKNLAANRP
  PNTYVKLTLLNSMGQEMSKCKTSIRRGQPNPVYKETFVFQVALFQLSDVTLILSVYNKRSMKRKEMIGWISLGLN
  SSGEEELNHWTEMKESKGQQVCRWHALLES

• Structural information:
  • Protein Domains: (260..37-)
    (/note="C2-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00041-)
    (415..55-)
    (/note="C2-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00041"-)
  • Interpro: IPR000008  IPR035892  IPR028696  
  • Prosite: PS50004
  • STRING: ENSP00000355986
• Other Databases: GeneCards:  SYT14  Malacards:  SYT14

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component

Diseases

Associated diseases	References
Autosomal recessive spinocerebellar ataxias	KEGG:H01891
Autosomal recessive spinocerebellar ataxias	KEGG:H01891
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