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

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
46,XY sex reversal 11	Likely pathogenic; Pathogenic	rs2135945152, rs1954619788, rs1384892917, rs1954336272, rs1954346640, rs1954336215	RCV001726690 RCV001089509 RCV001089510 RCV001089511 RCV001089512 RCV001089513	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Abnormal brain morphology	Likely pathogenic	rs1060499737	RCV000454218	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
DHX37-related disorder	Pathogenic; Likely pathogenic	rs1384892917, rs1954336272	RCV004579568 RCV003396737	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Differences in sex development	Pathogenic	rs1384892917	RCV005865456	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Likely pathogenic; Pathogenic	rs1060499737, rs1277857720, rs754186165	RCV000853095 RCV000853101 RCV000853097	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Male infertility with azoospermia or oligozoospermia due to single gene mutation	Likely pathogenic	rs2547108707, rs2547114179, rs1159235757	RCV003991603 RCV003991646 RCV003991647	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental delay	Likely pathogenic; Pathogenic	rs1060499737, rs1277857720, rs754186165	RCV000853095 RCV000853101 RCV000853097	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies	Likely pathogenic; Pathogenic	rs2135926480, rs1060499737, rs754186165, rs149331610	RCV001839222 RCV000991233 RCV000991235 RCV000991234	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorders	Likely pathogenic; Pathogenic	rs1060499737, rs1277857720, rs754186165, rs1424699115	RCV001261667 RCV001261673 RCV001261669 RCV001261672	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizure	Likely pathogenic; Pathogenic	rs754186165	RCV000853097	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
46,XY COMPLETE GONADAL DYSGENESIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOREOATHETOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOBOMA OF OPTIC DISC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ABSENCE OF BOTH TESTES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTAL ENAMEL HYPOPLASIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Disorder of sexual differentiation	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma susceptibility 1	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GONADAL DYSGENESIS, 46,XY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Male infertility with spermatogenesis disorder	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MALFORMATIONS OF CORTICAL DEVELOPMENT, GROUP II	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYMICROGYRIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SWYER SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TESTICULAR REGRESSION SYNDROME	—	Disgenet Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
46, XY Disorders of Sex Development	46, XY disorder of sex development	BEFREE	31337883		★☆☆☆☆ Found in Text Mining only
46,XY complete gonadal dysgenesis	46, XY complete gonadal dysgenesis	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
46,XY partial gonadal dysgenesis	46, XY partial gonadal dysgenesis	Orphanet			★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	33490273	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	33490290	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	35290436	Stimulate	★☆☆☆☆ Found in Text Mining only
Chronic granulomatous disease	Granulomatous Disease	BEFREE	24446915		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	34194426	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	33490273	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	32075680	Associate	★☆☆☆☆ Found in Text Mining only
Disorder of Sex Development 46 XY	46, xy disorder of sex development	Pubtator	36617173, 37065748, 37147882, 40766295	Associate	★☆☆☆☆ Found in Text Mining only
Disorders of Sex Development	Disorders of sex development	Pubtator	35432193	Associate	★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis	Gonadal Dysgenesis	BEFREE	31337883		★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis	Gonadal dysgenesis	Pubtator	40766295	Associate	★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis, 46,XY	Gonadal Dysgenesis	BEFREE	31287541, 31337883		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypogonadism	Hypogonadism	Pubtator	40766295	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	31188444		★☆☆☆☆ Found in Text Mining only
Testicular Neoplasms	Testicular neoplasm	Pubtator	40766295	Associate	★☆☆☆☆ Found in Text Mining only
Testicular regression syndrome	Testicular regression syndrome	BEFREE	31337883		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	31442407		★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner Syndrome	BEFREE	31337883		★☆☆☆☆ Found in Text Mining only