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Gene Gene information from NCBI Gene database.
Entrez ID 163087
Gene name Zinc finger protein 383
Gene symbol ZNF383
Synonyms (NCBI Gene)
HSD17Zfp383
Chromosome 19
Chromosome location 19q13.12
Summary The protein encoded by this gene is a KRAB-related zinc finger protein that inhibits the transcription of some MAPK signaling pathway genes. The repressor activity resides in the KRAB domain of the encoded protein. [provided by RefSeq, Sep 2016]
miRNA miRNA information provided by mirtarbase database.
204 Show/Hide all (204)
miRTarBase ID miRNA Experiments Reference
MIRT042301 hsa-miR-484 CLASH 23622248
MIRT042301 hsa-miR-484 CLASH 23622248
MIRT693772 hsa-miR-4797-5p HITS-CLIP 23313552
MIRT693771 hsa-miR-508-5p HITS-CLIP 23313552
MIRT693770 hsa-miR-5586-3p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13 Show/Hide all (13)
GO ID Ontology Definition Evidence Reference
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0003677 Function DNA binding IEA
GO:0003700 Function DNA-binding transcription factor activity IBA
GO:0005515 Function Protein binding IPI 32296183
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
619499 18609 ENSG00000188283
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8NA42
Protein name Zinc finger protein 383
Protein function May function as a transcriptional repressor, suppressing transcriptional activities mediated by MAPK signaling pathways.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00096 zf-C2H2 366 → 388 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 310 → 332 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 170 → 192 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 254 → 276 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 394 → 416 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 282 → 304 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 338 → 360 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 450 → 472 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 226 → 248 Zinc finger, C2H2 type Domain
PF01352 KRAB 5 → 46 KRAB box Family
PF13465 zf-H2C2_2 436 → 461 Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in heart, placenta, liver, pancreas and with a higher level in skeletal muscle. {ECO:0000269|PubMed:15964543}.
Sequence
MAEGSVMFSDVSIDFSQEEWDCLDPVQRDLYRDVMLENYGNLVSMGLYTPKPQVISLLEQ
GKEPWMVGRELTRGLCSDLESMCETKLLSLKKEVYEIELCQREIMGLTKHGLEYSSFGDV
LEYRSHLAKQLGYPNGHFSQEIFTPEYMPTFIQQTFLTLHQIINNEDRPYECKKCGKAFS
QNSQFIQHQRIH
IGEKSYECKECGKFFSCGSHVTRHLKIHTGEKPFECKECGKAFSCSSY
LSQHQRIH
TGKKPYECKECGKAFSYCSNLIDHQRIHTGEKPYECKVCGKAFTKSSQLFQH
ARIH
TGEKPYECKECGKAFTQSSKLVQHQRIHTGEKPYECKECGKAFSSGSALTNHQRIH
TGEKPYDCKECGKAFTQSSQLRQHQRIHAGEKPFECLECGKAFTQNSQLFQHQRIHTDEK
PYECNECGKAFNKCSNLTRHLRIHTGEKPYNCKECGKAFSSGSDLIRHQGIHTNK
Sequence length 475
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Reactome Pathway
Generic Transcription Pathway
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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)
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 Reference Evidence Score
EBV-positive nodal T- and NK-cell lymphoma Likely benign ClinVar —
★★★★★
★★☆☆☆
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
Leukemia, Myelocytic, Acute Leukemia GWASCAT_DG 27903959
★★★★★
★☆☆☆☆
Found in Text Mining only
Otosclerosis Otosclerosis GWASDB_DG 19230858
★★★★★
★☆☆☆☆
Found in Text Mining only