Gene Gene information from NCBI Gene database.
Entrez ID 90957
Gene name DExH-box helicase 57
Gene symbol DHX57
Synonyms (NCBI Gene)
DDX57
Chromosome 2
Chromosome location 2p22.1
miRNA miRNA information provided by mirtarbase database.
95
miRTarBase ID miRNA Experiments Reference
MIRT001639 hsa-let-7b-5p pSILAC 18668040
MIRT016202 hsa-miR-590-3p Sequencing 20371350
MIRT023464 hsa-miR-23b-3p Sequencing 20371350
MIRT027741 hsa-miR-98-5p Microarray 19088304
MIRT001639 hsa-let-7b-5p Proteomics;Other 18668040
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0003676 Function Nucleic acid binding IEA
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0003723 Function RNA binding IBA
GO:0003724 Function RNA helicase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6P158
Protein name Putative ATP-dependent RNA helicase DHX57 (EC 3.6.4.13) (DEAH box protein 57)
Protein function Probable ATP-binding RNA helicase.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05773 RWD 246 419 RWD domain Domain
PF18044 zf-CCCH_4 303 324 CCCH-type zinc finger Domain
PF00270 DEAD 548 709 DEAD/DEAH box helicase Domain
PF00271 Helicase_C 828 969 Helicase conserved C-terminal domain Family
PF04408 HA2 1036 1174 Helicase associated domain (HA2) Domain
PF07717 OB_NTP_bind 1213 1312 Oligonucleotide/oligosaccharide-binding (OB)-fold Domain
Sequence
MSSSVRRKGKPGKGGGKGSSRGGRGGRSHASKSHGSGGGGGGGGGGGGGNRKASSRIWDD
GDDFCIFSESRRPSRPSNSNISKGESRPKWKPKAKVPLQTLHMTSENQEKVKALLRDLQE
QDADAGSERGLSGEEEDDEPDCCNDERYWPAGQEPSLVPDLDPLEYAGLASVEPYVPEFT
VSPFAVQKLSRYGFNTERCQAVLRMCDGDVGASLEHLLTQCFSETFGERMKISEAVNQIS
LDECMEQRQEEAFALKSICGEKFIERIQNRVWTIGLELEYLTSRFRKSKPKESTKNVQEN
SL
EICKFYLKGNCKFGSKCRFKHEVPPNQIVGRIERSVDDSHLNAIEDASFLYELEIRFS
KDHKYPYQAPLVAFYSTNENLPLACRLHISEFLYDKALTFAETSEPVVYSLITLLEEES
E
IVKLLTNTHHKYSDPPVNFLPVPSRTRINNPACHKTVIPNNSFVSNQIPEVEKASESEES
DEDDGPAPVIVENESYVNLKKKISKRYDWQAKSVHAENGKICKQFRMKQASRQFQSILQE
RQSLPAWEERETILNLLRKHQVVVISGMTGCGKTTQIPQFILDDSLNGPPEKVANIICTQ
PRRISAISVAERVAKERAERVGLTVGYQIRLESVKSSATRLLYCTTGVLLRRLEGDTALQ
GVSHIIVDEVHERTEESDFLLLVLKDIVSQRPGLQVILMSATLNAELFS
DYFNSCPVITI
PGRTFPVDQFFLEDAIAVTRYVLQDGSPYMRSMKQISKEKLKARRNRTAFEEVEEDLRLS
LHLQDQDSVKDAVPDQQLDFKQLLARYKGVSKSVIKTMSIMDFEKVNLELIEALLEWIVD
GKHSYPPGAILVFLPGLAEIKMLYEQLQSNSLFNNRRSNRCVIHPLHSSLSSEEQQAVFV
KPPAGVTKIIISTNIAETSITIDDVVYVIDSGKMKEKRYDASKGMESLEDTFVSQANALQ
RKGRAGRVA
SGVCFHLFTSHHYNHQLLKQQLPEIQRVPLEQLCLRIKILEMFSAHNLQSV
FSRLIEPPHTDSLRASKIRLRDLGALTPDERLTPLGYHLASLPVDVRIGKLMLFGSIFRC
LDPALTIAASLAFKSPFVSPWDKKEEANQKKLEFAFANSDYLALLQAYKGWQLSTKEGVR
ASYNYCRQNFLSGRVLQEMASLKRQFTELLSDIG
FAREGLRAREIEKRAQGGDGVLDATG
EEANSNAENPKLISAMLCAALYPNVVQVKSPEGKFQKTSTGAVRMQPKSAELKFVTKNDG
YVHIHPSSVNYQVRHFDSPYLLYHEKIKTSRVFIRDCSMVSVYPLVLFGGGQ
VNVQLQRG
EFVVSLDDGWIRFVAASHQVAELVKELRCELDQLLQDKIKNPSIDLCTCPRGSRIISTIV
KLVTTQ
Sequence length 1386
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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 Evidence Score
DHX57-related disorder Likely benign; Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OBESITY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1 Uncertain significance 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
Azoospermia Azoospermia Pubtator 36945018 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Gestational Gestational diabetes Pubtator 29233017 Associate
★☆☆☆☆
Found in Text Mining only