Gene Gene information from NCBI Gene database.
Entrez ID 22835
Gene name ZFP30 zinc finger protein
Gene symbol ZFP30
Synonyms (NCBI Gene)
ZNF745
Chromosome 19
Chromosome location 19q13.12
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs869312869 A>C,G Likely-pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
719
miRTarBase ID miRNA Experiments Reference
MIRT024735 hsa-miR-215-5p Microarray 19074876
MIRT026102 hsa-miR-192-5p Microarray 19074876
MIRT047528 hsa-miR-10a-5p CLASH 23622248
MIRT618456 hsa-miR-646 HITS-CLIP 19536157
MIRT618455 hsa-miR-1207-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
9
GO ID Ontology Definition Evidence Reference
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
GO:0003677 Function DNA binding IEA
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
617317 29555 ENSG00000120784
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y2G7
Protein name Zinc finger protein 30 homolog (Zfp-30) (Zinc finger protein 745)
Protein function May be involved in transcriptional regulation.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01352 KRAB 5 45 KRAB box Family
PF00096 zf-C2H2 158 180 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 186 208 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 214 236 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 242 264 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 270 291 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 326 348 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 354 376 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 382 404 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 410 432 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 438 460 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 466 488 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 494 516 Zinc finger, C2H2 type Domain
Sequence
Sequence length 519
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Generic Transcription Pathway
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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 Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Cerebral visual impairment and intellectual disability Likely pathogenic rs869312869 RCV000210402
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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
MYOCARDIAL INFARCTION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Central visual impairment Central Visual Impairment BEFREE 26350515
★☆☆☆☆
Found in Text Mining only
Vision Disorders Visual disorder Pubtator 26350515 Associate
★☆☆☆☆
Found in Text Mining only