ZNF717 (zinc finger protein 717)

Gene

• Entrez ID: 100131827
• Gene name: Zinc finger protein 717
• Gene symbol: ZNF717
• Synonyms (NCBI Gene): OB1, X17, ZNF838
• Chromosome: 3
• Chromosome location: 3p12.3
• Summary: This gene encodes a Kruppel-associated box (KRAB) zinc-finger protein, which belongs to a large group of transcriptional regulators in mammals. These proteins bind nucleic acids and play important roles in various cellular functions, including cell prolif

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003677	Function	DNA binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0008270	Function	Zinc ion binding	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0046872	Function	Metal ion binding	IEA

Other IDs

• MIM: 618405
• HGNC: 29448
• e!Ensembl: ENSG00000227124

Protein

• UniProt ID: Q9BY31
• Protein name: Zinc finger protein 717 (Krueppel-like factor X17)
• Protein function: May be involved in transcriptional regulation.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01352	KRAB	14 → 55	KRAB box	Family
  PF00096	zf-C2H2	304 → 326	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	332 → 354	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	388 → 410	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	416 → 438	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	444 → 466	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	472 → 494	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	500 → 522	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	528 → 550	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	612 → 634	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	639 → 659	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	748 → 770	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	776 → 798	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	804 → 826	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	832 → 854	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	860 → 882	Zinc finger, C2H2 type	Domain

• Sequence:

  MLETYNSLVSLQELVSFEEVAVHFTWEEWQDLDDAQRTLYRDVMLETYSSLVSLGHCITK
  PEMIFKLEQGAEPWIVEETPNLRLSAVQIIDDLIERSHESHDRFFWQIVITNSNTSTQER
  VELGKTFNLNSNHVLNLIINNGNSSGMKPGQFNDCQNMLFPIKPGETQSGEKPHVCDITR
  RSHRHHEHLTQHHKIQTLLQTFQCNEQGKTFNTEAMFFIHKRVHIVQTFGKYNEYEKACN
  NSAVIVQVITQVGQPTCCRKSDFTKHQQTHTGEKPYECVECEKPSISKSDLMLQCKMPTE
  EKPYACNWCEKLFSYKSSLIIHQRIHTGEKPYGCNECGKTFRRKSFLTLHERTHTGDKPY
  KCIECGKTFHCKSLLTLHHRTHSGEKPYQCSECGKTFSQKSYLTIHHRTHTGEKPYACDH
  CEEAFSHKSRLTVHQRTHTGEKPYECNECGKPFINKSNLRLHQRTHTGEKPYECNECGKT
  FHRKSFLTIHQWTHTGEKPYECNECGKTFRCKSFLTVHQRTHAGEKPYACNECGKTYSHK
  SYLTVHHRTHTGEKPYECNECGKSFHCKSFLTIHQRTHAGKKPYECNECEKTFINKLNLG
  IHKITHTGERPYECNECGKTFRQKSNLSTHQGTHTGEKPYVCGKTFHRKSFLTIHQRTHT
  GKNRMDVMNVEKLFVRNHTLLYIRELTPGKSPMNVMNVENPFIRRQIFRSIKVFTRGRNP
  MNVANVEKPCQKSVLTVHHRTHTGEKPYECNECGKTFCHKSNLSTHQGTHSGEKPYECDE
  CRKTFYDKTVLTIHQRTHTGEKPFECKECRKTFSQKSKLFVHHRTHTGEKPFRCNECRKT
  FSQKSGLSIHQRTHTGEKPYECKECGKTFCQKSHLSRHQQTHIGEKSDVAEAGYVFPQNH
  SFFP

• Sequence length: 904

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Susceptibility to severe coronavirus disease (COVID-19)	Pathogenic	rs2918520	RCV003881715	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEFICIENCY ANEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Autism Spectrum Disorder	Autism	Pubtator	35627305	Associate	★☆☆☆☆ Found in Text Mining only
Contracture	Contracture	Pubtator	30431579	Associate	★☆☆☆☆ Found in Text Mining only
Gastroschisis	Gastroschisis	Pubtator	32163230	Associate	★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	30431579	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	30431579, 35627305	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	29688850	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	29327728		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	29327728		★☆☆☆☆ Found in Text Mining only
Retinopathy of Prematurity	Retinopathy of prematurity	Pubtator	40084286	Stimulate	★☆☆☆☆ Found in Text Mining only
Sebaceous Gland Neoplasms	Sebaceous gland neoplasms	Pubtator	36735267	Associate	★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxias	Spinocerebellar ataxia	Pubtator	30431579	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	25422082	Associate	★☆☆☆☆ Found in Text Mining only