Gene Gene information from NCBI Gene database.
Entrez ID 9326
Gene name Zinc finger HIT-type containing 3
Gene symbol ZNHIT3
Synonyms (NCBI Gene)
Hit1PEHOTRIP3
Chromosome 17
Chromosome location 17q12
miRNA miRNA information provided by mirtarbase database.
160
miRTarBase ID miRNA Experiments Reference
MIRT024305 hsa-miR-215-5p Microarray 19074876
MIRT026564 hsa-miR-192-5p Microarray 19074876
MIRT043888 hsa-miR-378a-3p CLASH 23622248
MIRT449216 hsa-miR-100-3p PAR-CLIP 22100165
MIRT449214 hsa-miR-4795-5p PAR-CLIP 22100165
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
GO ID Ontology Definition Evidence Reference
GO:0000463 Process Maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IBA
GO:0000492 Process Box C/D snoRNP assembly IBA
GO:0005515 Function Protein binding IPI 25170085, 28335020, 28514442, 32296183, 33961781
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IDA 28335020
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604500 12309 ENSG00000273611
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q15649
Protein name Zinc finger HIT domain-containing protein 3 (HNF-4a coactivator) (Thyroid hormone receptor interactor 3) (Thyroid receptor-interacting protein 3) (TR-interacting protein 3) (TRIP-3)
PDB 2YQQ , 5L85
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04438 zf-HIT 7 36 HIT zinc finger Domain
Sequence
MASLKCSTVVCVICLEKPKYRCPACRVPYCSVVCFRKHKEQCNPETRPVEKKIRSALPTK
TVKPVENKDDDDSIADFLNSDEEEDRVSLQNLKNLGESATLRSLLLNPHLRQLMVNLDQG
EDKAKLMRAYMQEPLFVEFADCCLGIVEPSQNEES
Sequence length 155
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
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
PEHO syndrome Likely pathogenic rs148890852 RCV000490627
★★★★☆
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
Lung cancer Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MAYER-ROKITANSKY-KUSTER SYNDROME Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MAYER-ROKITANSKY-KUSTER-HAUSER SYNDROME GenCC
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME 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
Acquired porencephaly Acquired Porencephaly HPO_DG
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 28639078
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis Pubtator 28639078 Associate
★☆☆☆☆
Found in Text Mining only
Arthrogryposis Arthrogryposis multiplex congenita HPO_DG
★☆☆☆☆
Found in Text Mining only
Atrophy/Degeneration affecting the brainstem Brainstem Atrophy HPO_DG
★☆☆☆☆
Found in Text Mining only
Cerebellar atrophy Cerebellar atrophy HPO_DG
★☆☆☆☆
Found in Text Mining only
Cerebral cortical atrophy Cerebral cortical atrophy HPO_DG
★☆☆☆☆
Found in Text Mining only
Congenital Epicanthus Congenital Epicanthus HPO_DG
★☆☆☆☆
Found in Text Mining only
Developmental Disabilities Developmental disability Pubtator 35843310 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Type 2 Diabetes mellitus, type 2 Pubtator 17656577 Associate
★☆☆☆☆
Found in Text Mining only