Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9326
Gene name Gene Name - the full gene name approved by the HGNC.
Zinc finger HIT-type containing 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ZNHIT3
Synonyms (NCBI Gene) Gene synonyms aliases
Hit1, PEHO, TRIP3
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q12
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
604500 12309 ENSG00000273611
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
PEHO Syndrome peho syndrome rs148890852 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Diabetes Type 2 diabetes N/A N/A GWAS
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Multiple Sclerosis Multiple sclerosis N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Amyotrophic Lateral Sclerosis Associate 28639078
Developmental Disabilities Associate 35843310
Diabetes Mellitus Type 2 Associate 17656577
Mason Type Diabetes Associate 17656577
PEHO syndrome Associate 31048081, 35843310