• Gene id: 6940

Gene Summary

• Gene Symbol: ZNF354A   Gene   UCSC   Ensembl
• Aliases: EZNF, HEL104, HKL1, KID-1, KID1, TCF17
• Gene name: zinc finger protein 354A
• Alternate names: zinc finger protein 354A, epididymis luminal protein 104, transcription factor 17, zinc finger protein eZNF,
• Gene location: 5q35.3 (178730658: 178711511)     Exons: 6     NC_000005.10
• OMIM: 602444

Protein Summary

• Protein general information: O60765  
  • Name: Zinc finger protein 354A (Transcription factor 17) (TCF 17) (Zinc finger protein eZNF)
  • Length: 605  
  • Mass: 69237
  • Tissue specificity: Expressed in kidney and inner ear.
• Sequence:

  MAAGQREARPQVSLTFEDVAVLFTRDEWRKLAPSQRNLYRDVMLENYRNLVSLGLPFTKPKVISLLQQGEDPWEV
  EKDGSGVSSLGSKSSHKTTKSTQTQDSSFQGLILKRSNRNVPWDLKLEKPYIYEGRLEKKQDKKGSFQIVSATHK
  KIPTIERSHKNTELSQNFSPKSVLIRQQILPREKTPPKCEIQGNSLKQNSQLLNQPKITADKRYKCSLCEKTFIN
  TSSLRKHEKNHSGEKLFKCKECSKAFSQSSALIQHQITHTGEKPYICKECGKAFTLSTSLYKHLRTHTVEKSYRC
  KECGKSFSRRSGLFIHQKIHAEENPCKYNPGRKASSCSTSLSGCQRIHSRKKSYLCNECGNTFKSSSSLRYHQRI
  HTGEKPFKCSECGRAFSQSASLIQHERIHTGEKPYRCNECGKGFTSISRLNRHRIIHTGEKFYNCNECGKALSSH
  STLIIHERIHTGEKPCKCKVCGKAFRQSSALIQHQRMHTGERPYKCNECGKTFRCNSSLSNHQRIHTGEKPYRCE
  ECGISFGQSSALIQHRRIHTGEKPFKCNTCGKTFRQSSSRIAHQRIHTGEKPYECNTCGKLFNHRSSLTNHYKIH
  IEEDP

• Structural information:
  • Protein Domains: (14..8-)
    (/note="KRAB-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00119"-)
  • Interpro: IPR001909  IPR036051  IPR041697  IPR036236  IPR013087  
  • Prosite: PS50805 PS00028 PS50157
  • CDD: cd07765
  • STRING: ENSP00000337122
• Other Databases: GeneCards:  ZNF354A  Malacards:  ZNF354A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007605	sensory perception of sound	TAS	biological process
GO:0006357	regulation of transcription by RNA polymerase II	TAS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005634	nucleus	HDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05168	Herpes simplex virus 1 infection

Diseases

Associated diseases	References
seminoma	PMID:9788609
in situ carcinoma	PMID:9788609
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R