ZNF717 (zinc finger protein 717)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 100131827
Gene name Zinc finger protein 717
Gene symbol ZNF717
Synonyms (NCBI Gene)
OB1X17ZNF838
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) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
9
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (9)
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
618405 29448 ENSG00000227124
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Gene Gene ontology Other IDs Protein 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)
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
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)
Show/Hide Unknown Diseases (4)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
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
Show/Hide Text Mining Associations (14)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Autism Spectrum Disorder Associate 35627305
★★★★★
★☆☆☆☆
Found in Text Mining only
Contracture Associate 30431579
★★★★★
★☆☆☆☆
Found in Text Mining only
Ehlers Danlos syndrome type 3 Associate 35886052
★★★★★
★☆☆☆☆
Found in Text Mining only
Gastroschisis Associate 32163230
★★★★★
★☆☆☆☆
Found in Text Mining only
Growth Disorders Associate 30431579
★★★★★
★☆☆☆☆
Found in Text Mining only
Intellectual Disability Associate 30431579, 35627305
★★★★★
★☆☆☆☆
Found in Text Mining only
Leukemia Myeloid Acute Associate 29688850
★★★★★
★☆☆☆☆
Found in Text Mining only
Leukemia Myelomonocytic Acute Associate 29688850
★★★★★
★☆☆☆☆
Found in Text Mining only
Neoplasms Associate 36735267
★★★★★
★☆☆☆☆
Found in Text Mining only
Non Muscle Invasive Bladder Neoplasms Associate 39817975
★★★★★
★☆☆☆☆
Found in Text Mining only