ZNHIT2 (zinc finger HIT-type containing 2)

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
741
Gene name Gene Name - the full gene name approved by the HGNC.
Zinc finger HIT-type containing 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ZNHIT2
Synonyms (NCBI Gene) Gene synonyms aliases
C11orf5, FON
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q13.1
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(4)
miRTarBase ID miRNA Experiments Reference
MIRT030125 hsa-miR-26b-5p Microarray 19088304
MIRT1542921 hsa-miR-4477a CLIP-seq
MIRT1542922 hsa-miR-4704-3p CLIP-seq
MIRT1542921 hsa-miR-4477a CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(3)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 28514442, 28561026, 32296183, 33961781, 34131137
GO:0008270 Function Zinc ion binding IEA
GO:0046872 Function Metal ion binding IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
604575 1177 ENSG00000174276
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q9UHR6
Protein name Zinc finger HIT domain-containing protein 2 (Protein FON)
Protein function May act as a bridging factor mediating the interaction between the R2TP/Prefoldin-like (R2TP/PFDL) complex and U5 small nuclear ribonucleoprotein (U5 snRNP) (PubMed:28561026). Required for the interaction of R2TP complex subunit RPAP3 and prefol
PDB 1X4S
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04438 zf-HIT 3 → 36 HIT zinc finger Domain
Tissue specificity TISSUE SPECIFICITY: Low expression in most tissues; highly expressed in testis. {ECO:0000269|PubMed:10602999}.
Sequence 
MEPAGPCGFCPAGEVQPARYTCPRCNAPYCSLRCYRTHGTCAENFYRDQVLGELRGCSAP
PSRLASALRRLRQQRETEDEPGEAGLSSGPAPGGLSGLWERLAPGEKAAFERLLSRGEAG
RLLPPWRPWWWNRGAGPQLLEELDNAPGSDAAELELAPARTPPDSVKDASAAEPAAAERV
LGDVPGACTPVVPTRIPAIVSLSRGPVSPLVRFQLPNVLFAYAHTLALYHGGDDALLSDF
CATLLGVSGALGAQQVFASAEEALQAAAHVLEAGEHPPGPLGTRGAMHEVARILLGEGPT
NQKGYTLAALGDLAQTLGRARKQAVAREERDHLYRARKKCQFLLAWTNENEAALTPLALD
CARAHQAHAVVAEEVAALTGELERLWGGPVPPAPRTLIEELPS
Sequence length 403
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)
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (1)
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
Coenzyme Q10 Deficiency Coenzyme Q10 levels N/A N/A GWAS