Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
57647
Gene name Gene Name - the full gene name approved by the HGNC.
DEAH-box helicase 37
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DHX37
Synonyms (NCBI Gene) Gene synonyms aliases
DDX37, Dhr1, NEDBAVC, SRXY11
Disease Acronyms (UniProt) Disease acronyms from UniProt database
NEDBAVC, SRXY11
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q24.31
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a DEAD box protein. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs149331610 G>A,C Pathogenic, likely-pathogenic Non coding transcript variant, missense variant, synonymous variant, coding sequence variant
rs575837056 C>T Likely-pathogenic, pathogenic Coding sequence variant, missense variant, non coding transcript variant
rs754186165 C>A,T Likely-pathogenic, pathogenic Missense variant, non coding transcript variant, coding sequence variant
rs779613772 C>T Likely-pathogenic Missense variant, non coding transcript variant, coding sequence variant
rs1060499737 G>T Likely-pathogenic, pathogenic Non coding transcript variant, missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT031884 hsa-miR-16-5p Proteomics 18668040
MIRT046511 hsa-miR-15b-5p CLASH 23622248
MIRT041293 hsa-miR-193b-3p CLASH 23622248
MIRT935607 hsa-miR-1288 CLIP-seq
MIRT935608 hsa-miR-1908 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000462 Process Maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IBA 21873635
GO:0003723 Function RNA binding IBA 21873635
GO:0003724 Function RNA helicase activity IEA
GO:0005515 Function Protein binding IPI 30582406
GO:0005524 Function ATP binding IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
617362 17210 ENSG00000150990
Protein
UniProt ID Q8IY37
Protein name Probable ATP-dependent RNA helicase DHX37 (EC 3.6.4.13) (DEAH box protein 37)
Protein function ATP-binding RNA helicase that plays a role in maturation of the small ribosomal subunit in ribosome biogenesis (PubMed:30582406). Required for the release of the U3 snoRNP from pre-ribosomal particles (PubMed:30582406). Part of the small subunit
PDB 7MQA
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00270 DEAD 255 418 DEAD/DEAH box helicase Domain
PF00271 Helicase_C 582 676 Helicase conserved C-terminal domain Family
PF04408 HA2 737 858 Helicase associated domain (HA2) Domain
PF07717 OB_NTP_bind 925 1011 Oligonucleotide/oligosaccharide-binding (OB)-fold Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in the fallopian tube, ovary, uterus and testis. Also expressed in the brain. {ECO:0000269|PubMed:31256877, ECO:0000269|PubMed:31337883}.
Sequence
MGKLRRRYNIKGRQQAGPGPSKGPPEPPPVQLELEDKDTLKGVDASNALVLPGKKKKKTK
APPLSKKEKKPLTKKEKKVLQKILEQKEKKSQRAEMLQKLSEVQASEAEMRLFYTTSKLG
TGNRMYHTKEKADEVVAPGQEKISSLSGAHRKRRRWPSAEEEEEEEEESESELEEESELD
EDPAAEPAEAGVGTTVAPLPPAPAPSSQPVPAGMTVPPPPAAAPPLPRALAKPAVFIPVN
RSPEMQEERLKLPILSEEQVIMEAVAEHPIVIVCGETGSGKTTQVPQFLYEAGFSSEDSI
IGVTEPRRVAAVAMSQRVAKEMNLSQRVVSYQIRYEGNVTEETRIKFMTDGVLLKEIQKD
FLLLRYKVVIIDEAHERSVYTDILIGLLSRIVTLRAKRNLPLKLLIMSATLRVEDFTQ
NP
RLFAKPPPVIKVESRQFPVTVHFNKRTPLEDYSGECFRKVCKIHRMLPAGGILVFLTGQA
EVHALCRRLRKAFPPSRARPQEKDDDQKDSVEEMRKFKKSRARAKKARAEVLPQINLDHY
SVLPAGEGDEDREAEVDEEEGALDSDLDLDLGDGGQDGGEQPDASLPLHVLPLYSLLAPE
KQAQVFKPPPEGTRLCVVATNVAETSLTIPGIKYVVDCGKVKKRYYDRVTGVSSFRVTWV
SQASADQRAGRAGRTE
PGHCYRLYSSAVFGDFEQFPPPEITRRPVEDLILQMKALNVEKV
INFPFPTPPSVEALLAAEELLIALGALQPPQKAERVKQLQENRLSCPITALGRTMATFPV
APRYAKMLALSRQHGCLPYAITIVASMTVRELFEELDRPAASDEELTRLKSKRARVAQMK
RTWAGQGASLKLGDLMVL
LGAVGACEYASCTPQFCEANGLRYKAMMEIRRLRGQLTTAVN
AVCPEAELFVDPKMQPPTESQVTYLRQIVTAGLGDHLARRVQSEEMLEDKWRNAYKTPLL
DDPVFIHPSSVLFKELPEFVVYQEIVETTKMYMKGVSSVEVQWIPALLPSY
CQFDKPLEE
PAPTYCPERGRVLCHRASVFYRVGWPLPAIEVDFPEGIDRYKHFARFLLEGQVFRKLASY
RSCLLSSPGTMLKTWARLQPRTESLLRALVAEKADCHEALLAAWKKNPKYLLAEYCEWLP
QAMHPDIEKAWPPTTVH
Sequence length 1157
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Major pathway of rRNA processing in the nucleolus and cytosol
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
46, xy partial gonadal dysgenesis 46,XY partial gonadal dysgenesis rs193922688
Unknown
Disease term Disease name Evidence References Source
46, XY Sex Reversal 46,XY sex reversal 11 GenCC
46, XY complete gonadal dysgenesis 46,XY complete gonadal dysgenesis GenCC
Testicular regression syndrome testicular regression syndrome GenCC
46, XY partial gonadal dysgenesis 46,XY partial gonadal dysgenesis GenCC
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 33490290
Anorchia Associate 40766295
Brain Diseases Associate 33490273
Carcinoma Hepatocellular Associate 33490290
Carcinoma Hepatocellular Stimulate 35290436
Craniofacial Fibrous Dysplasia Associate 36624141
Dementia Associate 34194426
Developmental Disabilities Associate 33490273
Diabetes Mellitus Associate 32075680
Disorder of Sex Development 46 XY Associate 36617173, 37065748, 37147882, 40766295