DHX37 (DEAH-box helicase 37)

Gene

• Entrez ID: 57647
• Gene name: DEAH-box helicase 37
• Gene symbol: DHX37
• Synonyms (NCBI Gene): DDX37, Dhr1, NEDBAVC, SRXY11
• Chromosome: 12
• Chromosome location: 12q24.31
• Summary: 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 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
rs1277857720	G>A	Likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant
rs1424699115	T>C	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant

miRNA

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
MIRT935609	hsa-miR-2467-3p	CLIP-seq
MIRT935610	hsa-miR-3158-5p	CLIP-seq
MIRT935611	hsa-miR-3173-5p	CLIP-seq
MIRT935612	hsa-miR-3199	CLIP-seq
MIRT935613	hsa-miR-3202	CLIP-seq
MIRT935614	hsa-miR-3678-3p	CLIP-seq
MIRT935615	hsa-miR-370	CLIP-seq
MIRT935616	hsa-miR-3925-3p	CLIP-seq
MIRT935617	hsa-miR-4271	CLIP-seq
MIRT935618	hsa-miR-4418	CLIP-seq
MIRT935619	hsa-miR-4475	CLIP-seq
MIRT935620	hsa-miR-4706	CLIP-seq
MIRT935621	hsa-miR-4725-3p	CLIP-seq
MIRT935622	hsa-miR-4747-5p	CLIP-seq
MIRT935623	hsa-miR-4749-5p	CLIP-seq
MIRT935624	hsa-miR-4756-3p	CLIP-seq
MIRT935625	hsa-miR-509-3-5p	CLIP-seq
MIRT935626	hsa-miR-509-5p	CLIP-seq
MIRT935627	hsa-miR-663	CLIP-seq
MIRT935628	hsa-miR-766	CLIP-seq
MIRT1976963	hsa-miR-3922-5p	CLIP-seq
MIRT1976964	hsa-miR-4727-5p	CLIP-seq
MIRT1976965	hsa-miR-4753-5p	CLIP-seq
MIRT1976966	hsa-miR-4803	CLIP-seq
MIRT1976967	hsa-miR-633	CLIP-seq
MIRT2212317	hsa-miR-1202	CLIP-seq
MIRT2212318	hsa-miR-1273f	CLIP-seq
MIRT2212319	hsa-miR-143	CLIP-seq
MIRT2212320	hsa-miR-3125	CLIP-seq
MIRT935611	hsa-miR-3173-5p	CLIP-seq
MIRT2212321	hsa-miR-3194-3p	CLIP-seq
MIRT2212322	hsa-miR-3194-5p	CLIP-seq
MIRT2212323	hsa-miR-338-3p	CLIP-seq
MIRT2212324	hsa-miR-3616-3p	CLIP-seq
MIRT935615	hsa-miR-370	CLIP-seq
MIRT2212325	hsa-miR-3916	CLIP-seq
MIRT935616	hsa-miR-3925-3p	CLIP-seq
MIRT2212326	hsa-miR-3928	CLIP-seq
MIRT2212327	hsa-miR-3972	CLIP-seq
MIRT2212328	hsa-miR-4290	CLIP-seq
MIRT2212329	hsa-miR-4530	CLIP-seq
MIRT2212330	hsa-miR-4708-5p	CLIP-seq
MIRT2212331	hsa-miR-4721	CLIP-seq
MIRT2212332	hsa-miR-4770	CLIP-seq
MIRT2212333	hsa-miR-4773	CLIP-seq
MIRT2212334	hsa-miR-4802-5p	CLIP-seq
MIRT2212335	hsa-miR-760	CLIP-seq
MIRT935628	hsa-miR-766	CLIP-seq
MIRT2386895	hsa-miR-637	CLIP-seq
MIRT2679274	hsa-miR-587	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000462	Process	Maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	IBA
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003723	Function	RNA binding	IBA
GO:0003724	Function	RNA helicase activity	IEA
GO:0004386	Function	Helicase activity	IBA
GO:0004386	Function	Helicase activity	IEA
GO:0005515	Function	Protein binding	IPI	30582406
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005730	Component	Nucleolus	IBA
GO:0005730	Component	Nucleolus	IDA	31337883
GO:0005730	Component	Nucleolus	IEA
GO:0005737	Component	Cytoplasm	IDA	31337883
GO:0005737	Component	Cytoplasm	IEA
GO:0007420	Process	Brain development	IMP	31256877
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0031965	Component	Nuclear membrane	IDA	31337883
GO:0031965	Component	Nuclear membrane	IEA
GO:0032040	Component	Small-subunit processome	IDA	34516797
GO:0034511	Function	U3 snoRNA binding	IDA	30582406
GO:0042254	Process	Ribosome biogenesis	IDA	30582406
GO:0042255	Process	Ribosome assembly	IDA	30582406
GO:0042274	Process	Ribosomal small subunit biogenesis	IDA	34516797
GO:2000020	Process	Positive regulation of male gonad development	IDA	31337883

Other IDs

• MIM: 617362
• HGNC: 17210
• e!Ensembl: 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
  FLLLRYKVVIIDEAHERSVYTDILIGLLSRIVTLRAKRNLPLKLLIMSATLRVEDFTQNP
  RLFAKPPPVIKVESRQFPVTVHFNKRTPLEDYSGECFRKVCKIHRMLPAGGILVFLTGQA
  EVHALCRRLRKAFPPSRARPQEKDDDQKDSVEEMRKFKKSRARAKKARAEVLPQINLDHY
  SVLPAGEGDEDREAEVDEEEGALDSDLDLDLGDGGQDGGEQPDASLPLHVLPLYSLLAPE
  KQAQVFKPPPEGTRLCVVATNVAETSLTIPGIKYVVDCGKVKKRYYDRVTGVSSFRVTWV
  SQASADQRAGRAGRTEPGHCYRLYSSAVFGDFEQFPPPEITRRPVEDLILQMKALNVEKV
  INFPFPTPPSVEALLAAEELLIALGALQPPQKAERVKQLQENRLSCPITALGRTMATFPV
  APRYAKMLALSRQHGCLPYAITIVASMTVRELFEELDRPAASDEELTRLKSKRARVAQMK
  RTWAGQGASLKLGDLMVLLGAVGACEYASCTPQFCEANGLRYKAMMEIRRLRGQLTTAVN
  AVCPEAELFVDPKMQPPTESQVTYLRQIVTAGLGDHLARRVQSEEMLEDKWRNAYKTPLL
  DDPVFIHPSSVLFKELPEFVVYQEIVETTKMYMKGVSSVEVQWIPALLPSYCQFDKPLEE
  PAPTYCPERGRVLCHRASVFYRVGWPLPAIEVDFPEGIDRYKHFARFLLEGQVFRKLASY
  RSCLLSSPGTMLKTWARLQPRTESLLRALVAEKADCHEALLAAWKKNPKYLLAEYCEWLP
  QAMHPDIEKAWPPTTVH

• Sequence length: 1157

Pathways

Reactome:

Major pathway of rRNA processing in the nucleolus and cytosol

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
46,XY sex reversal 11	Likely pathogenic; Pathogenic	rs2135945152, rs1954619788, rs1384892917, rs1954336272, rs1954346640, rs1954336215	RCV001726690 RCV001089509 RCV001089510 RCV001089511 RCV001089512 RCV001089513
Abnormal brain morphology	Likely pathogenic	rs1060499737	RCV000454218
DHX37-related disorder	Pathogenic; Likely pathogenic	rs1384892917, rs1954336272	RCV004579568 RCV003396737
Differences in sex development	Pathogenic	rs1384892917	RCV005865456
Intellectual disability	Likely pathogenic; Pathogenic	rs1060499737, rs1277857720, rs754186165	RCV000853095 RCV000853101 RCV000853097
Male infertility with azoospermia or oligozoospermia due to single gene mutation	Likely pathogenic	rs2547108707, rs2547114179, rs1159235757	RCV003991603 RCV003991646 RCV003991647
Neurodevelopmental delay	Likely pathogenic; Pathogenic	rs1060499737, rs1277857720, rs754186165	RCV000853095 RCV000853101 RCV000853097
Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies	Likely pathogenic; Pathogenic	rs2135926480, rs1060499737, rs754186165, rs149331610	RCV001839222 RCV000991233 RCV000991235 RCV000991234
Neurodevelopmental disorders	Likely pathogenic; Pathogenic	rs1060499737, rs1277857720, rs754186165, rs1424699115	RCV001261667 RCV001261673 RCV001261669 RCV001261672
Seizure	Likely pathogenic; Pathogenic	rs754186165	RCV000853097

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Adrenocortical carcinoma, hereditary	Benign	rs60252902	RCV005926835
Cervical cancer	Benign	rs115531779	RCV005926555
Clear cell carcinoma of kidney	Likely benign	rs200782087, rs35913103	RCV005932017 RCV005926472
Colon adenocarcinoma	Likely benign	rs200782087	RCV005932016
Colorectal cancer	Benign	rs60252902	RCV005930275
Disorder of sexual differentiation	Uncertain significance	rs757245596	RCV005863819
Familial cancer of breast	Likely benign; Benign	rs200782087, rs60252902	RCV005932015 RCV005926834
Gastric cancer	Benign	rs115531779	RCV005926557
Glioma susceptibility 1	Likely benign	rs146274723	RCV005929842
Hepatocellular carcinoma	Benign	rs115531779	RCV005926553
Male infertility with spermatogenesis disorder	Conflicting classifications of pathogenicity	rs780020505	RCV003991636
Malignant lymphoma, large B-cell, diffuse	Benign	rs115531779, rs60252902	RCV005926556 RCV005930274
Malignant tumor of esophagus	Likely benign; Benign	rs202027405, rs115531779	RCV005928442 RCV005926554
Malignant tumor of urinary bladder	Uncertain significance	rs746698210	RCV005931372
Ovarian serous cystadenocarcinoma	Likely benign	rs146274723	RCV005929844
Sarcoma	Benign	rs201142906	RCV005930547
Thymoma	Benign	rs115531779	RCV005926558
Thyroid cancer, nonmedullary, 1	Likely benign	rs200782087	RCV005932018
Uterine carcinosarcoma	Benign	rs60252902	RCV005930276
Uterine corpus endometrial carcinoma	Benign	rs115531779	RCV005926559
Uveal melanoma	Likely benign; Benign	rs146274723, rs60252902	RCV005929843 RCV005930273

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
Disorders of Sex Development	Associate	35432193
Facial Hemiatrophy	Associate	36624141
Gonadal Dysgenesis	Associate	40766295
Gonadal Dysgenesis 46 XY	Associate	40290305
Heredodegenerative Disorders Nervous System	Associate	26539891
Hypogonadism	Associate	40766295
Neoplasms	Associate	33490273, 33490290
Persistent Infection	Associate	32075680
Testicular Neoplasms	Associate	40766295