Gene Gene information from NCBI Gene database.
Entrez ID 317781
Gene name DEAD-box helicase 51
Gene symbol DDX51
Synonyms (NCBI Gene)
-
Chromosome 12
Chromosome location 12q24.33
miRNA miRNA information provided by mirtarbase database.
471
miRTarBase ID miRNA Experiments Reference
MIRT022177 hsa-miR-124-3p Proteomics;Microarray 18668037
MIRT618268 hsa-miR-6819-3p HITS-CLIP 23824327
MIRT618267 hsa-miR-6877-3p HITS-CLIP 23824327
MIRT618266 hsa-miR-8062 HITS-CLIP 23824327
MIRT618265 hsa-miR-4722-3p HITS-CLIP 23824327
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 IEA
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.
Q8N8A6
Protein name ATP-dependent RNA helicase DDX51 (EC 3.6.4.13) (DEAD box protein 51)
Protein function ATP-binding RNA helicase involved in the biogenesis of 60S ribosomal subunits.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00270 DEAD 222 441 DEAD/DEAH box helicase Domain
PF00271 Helicase_C 490 600 Helicase conserved C-terminal domain Family
Sequence
MALFYVARYPGPDAAAAAGPEGAEAGAHGRARALLERLQSRARERQQQREPAQTEAAAST
EPATRRRRRPRRRRRVNDAEPGSPEAPQGKRRKADGEDAGAESNEEAPGEPSAGSSEEAP
GEPSAGSSEEAPGERSTSASAEAAPDGPALEEAAGPLVPGLVLGGFGKRKAPKVQPFLPR
WLAEPNCVRRNVTEDLVPIEDIPDVHPDLQKQLRAHGISSYFPVQAAVIPALLESAACGF
LVGRGGYRPSDLCVSAPTGSGKTLAFVIPVVQALLSRVVCHIRALVVLPTKELAQQVSKV
FNIYTDATPLRVSLVTGQKSLAKEQESLVQKTADGYRCLADIVVATPGRLVDHIDQTPGF
SLQQLRFLIIDEADRMIDSMHQSWLPRVVAAAFQSEDPADPCALLQRRQAQAVTAASTCC
PQMPLQKLLFSATLTQNPEKL
QQLGLHQPRLFSTGLAHRGLEDTDGDGDSGKYAFPVGLT
HHYVPCSLSSKPLVVLHLVLEMGFSRVLCFTNSRENSHRLFLLVQAFGGVDVAEFSSRYG
PGQRRMILKQFEQGKIQLLISTDATARGIDVQGVELVVNYDAPQYLRTYVHRVGRTARAG

KTGQAFTLLLKVQERRFLRMLTEAGAPELQRHELSSKLLQPLVPRYEEALSQLEESVKEE
RKQRAA
Sequence length 666
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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
Gastric cancer Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HIRSCHSPRUNG DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MESOTHELIOMA, MALIGNANT CTD
★★☆☆☆
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
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 17363581
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 17363581
★☆☆☆☆
Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia Lymphoblastic Leukemia BEFREE 17363581
★☆☆☆☆
Found in Text Mining only
Malignant mesothelioma Malignant Mesothelioma CTD_human_DG 26928227
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 27198888
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 27198888
★☆☆☆☆
Found in Text Mining only
Non-Small Cell Lung Carcinoma Lung carcinoma BEFREE 27198888
★☆☆☆☆
Found in Text Mining only