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 translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distributi... See more...

Aliases for DHX37 Gene

Aliases for DHX37 Gene

  • DEAH-Box Helicase 37 2 3 5
  • DEAH (Asp-Glu-Ala-His) Box Polypeptide 37 2 3
  • Probable ATP-Dependent RNA Helicase DHX37 3 4
  • DEAD/DEAH Box Helicase DDX37 2 3
  • DEAH Box Protein 37 3 4
  • KIAA1517 2 4
  • DDX37 3 4
  • Dhr1 2 3
  • DEAD/H (Asp-Glu-Ala-Asp/His) Box Polypeptide 37 3
  • EC 3.6.4.13 4
  • EC 3.6.1 51
  • NEDBAVC 3
  • MGC4322 2
  • MGC2695 2
  • SRXY11 3
  • DHX37 5

External Ids for DHX37 Gene

Previous HGNC Symbols for DHX37 Gene

  • DDX37

Previous GeneCards Identifiers for DHX37 Gene

  • GC12M125155
  • GC12M123784
  • GC12M123956
  • GC12M123997
  • GC12M125431
  • GC12M122392

Summaries for DHX37 Gene

Entrez Gene Summary for DHX37 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 translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. [provided by RefSeq, Jul 2008]

GeneCards Summary for DHX37 Gene

DHX37 (DEAH-Box Helicase 37) is a Protein Coding gene. Diseases associated with DHX37 include 46,Xy Sex Reversal 11 and Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies. Among its related pathways are rRNA processing in the nucleus and cytosol and Gene Expression. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and helicase activity. An important paralog of this gene is DHX8.

UniProtKB/Swiss-Prot Summary for DHX37 Gene

  • 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). Plays a role in early testis development (PubMed:31287541, PubMed:31337883). Probably plays also a role in brain development (PubMed:31256877).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DHX37 Gene

Genomics for DHX37 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DHX37 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DHX37 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DHX37

Top Transcription factor binding sites by QIAGEN in the DHX37 gene promoter:
  • AP-2gamma
  • c-Ets-1
  • Elk-1
  • HNF-4alpha1
  • HSF2
  • NRF-2
  • NRSF form 1
  • NRSF form 2
  • Pax-4a
  • STAT3

Genomic Locations for DHX37 Gene

Latest Assembly
chr12:124,946,824-124,989,131
(GRCh38/hg38)
Size:
42,308 bases
Orientation:
Minus strand

Previous Assembly
chr12:125,431,372-125,473,677
(GRCh37/hg19 by Entrez Gene)
Size:
42,306 bases
Orientation:
Minus strand

chr12:125,431,371-125,473,668
(GRCh37/hg19 by Ensembl)
Size:
42,298 bases
Orientation:
Minus strand

Genomic View for DHX37 Gene

Genes around DHX37 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DHX37 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DHX37 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DHX37 Gene

Proteins for DHX37 Gene

  • Protein details for DHX37 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IY37-DHX37_HUMAN
    Recommended name:
    Probable ATP-dependent RNA helicase DHX37
    Protein Accession:
    Q8IY37
    Secondary Accessions:
    • Q9BUI7
    • Q9P211

    Protein attributes for DHX37 Gene

    Size:
    1157 amino acids
    Molecular mass:
    129545 Da
    Quaternary structure:
    • Interacts with UTP14A.

neXtProt entry for DHX37 Gene

Selected DME Specific Peptides for DHX37 Gene

Q8IY37:
  • PQFLYEAG
  • TGSGKTTQ

Post-translational modifications for DHX37 Gene

  • Ubiquitination at Lys118 and Lys786
  • Modification sites at PhosphoSitePlus

Other Protein References for DHX37 Gene

Domains & Families for DHX37 Gene

Gene Families for DHX37 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for DHX37 Gene

InterPro:
Blocks:
  • ATP-dependent helicase, DEAH-box
  • Helicase-associated region
ProtoNet:

Suggested Antigen Peptide Sequences for DHX37 Gene

GenScript: Design optimal peptide antigens:
  • DEAH box protein 37 (DHX37_HUMAN)
  • DHX37 protein (Q6IPP7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8IY37

UniProtKB/Swiss-Prot:

DHX37_HUMAN :
  • Belongs to the DEAD box helicase family. DEAH subfamily.
Family:
  • Belongs to the DEAD box helicase family. DEAH subfamily.
genes like me logo Genes that share domains with DHX37: view

Function for DHX37 Gene

Molecular function for DHX37 Gene

UniProtKB/Swiss-Prot 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). Plays a role in early testis development (PubMed:31287541, PubMed:31337883). Probably plays also a role in brain development (PubMed:31256877).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + H2O = ADP + H(+) + phosphate; Xref=Rhea:RHEA:13065, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=3.6.4.13; Evidence={ECO:0000269|PubMed:30582406};.

Enzyme Numbers (IUBMB) for DHX37 Gene

Phenotypes From GWAS Catalog for DHX37 Gene

Gene Ontology (GO) - Molecular Function for DHX37 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding IBA 21873635
GO:0003724 RNA helicase activity IEA --
GO:0004386 helicase activity IEA --
genes like me logo Genes that share ontologies with DHX37: view
genes like me logo Genes that share phenotypes with DHX37: view

Human Phenotype Ontology for DHX37 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DHX37

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for DHX37 Gene

Localization for DHX37 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DHX37 Gene

Nucleus, nucleolus. Cytoplasm. Nucleus membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DHX37 gene
Compartment Confidence
nucleus 5
plasma membrane 2
cytosol 2
extracellular 1
cytoskeleton 1
mitochondrion 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DHX37 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IBA 21873635
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IBA,IDA 31337883
GO:0005737 cytoplasm IEA,IDA 31337883
genes like me logo Genes that share ontologies with DHX37: view

Pathways & Interactions for DHX37 Gene

genes like me logo Genes that share pathways with DHX37: view

Gene Ontology (GO) - Biological Process for DHX37 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000462 maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IBA 21873635
GO:0006364 rRNA processing TAS --
GO:0007420 brain development IMP 31256877
GO:0042254 ribosome biogenesis IDA 30582406
GO:0042255 ribosome assembly IDA 30582406
genes like me logo Genes that share ontologies with DHX37: view

No data available for SIGNOR curated interactions for DHX37 Gene

Drugs & Compounds for DHX37 Gene

(3) Drugs for DHX37 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
Phosphate Experimental Pharma 0
ATP Investigational Nutra 0

(1) Additional Compounds for DHX37 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
58-64-0
genes like me logo Genes that share compounds with DHX37: view

Transcripts for DHX37 Gene

mRNA/cDNA for DHX37 Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DHX37

Alternative Splicing Database (ASD) splice patterns (SP) for DHX37 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21 ^ 22a · 22b ^ 23 ^
SP1: - -
SP2: - -
SP3:
SP4: - - -
SP5:

ExUns: 24 ^ 25 ^ 26 ^ 27 ^ 28a · 28b
SP1:
SP2:
SP3:
SP4:
SP5:

Relevant External Links for DHX37 Gene

GeneLoc Exon Structure for
DHX37

Expression for DHX37 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DHX37 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Lymph (Hematopoietic System)

Protein differential expression in normal tissues from HIPED for DHX37 Gene

This gene is overexpressed in Blymphocyte (20.7), Peripheral blood mononuclear cells (17.8), and CD8 Tcells (9.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DHX37 Gene



Protein tissue co-expression partners for DHX37 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DHX37

SOURCE GeneReport for Unigene cluster for DHX37 Gene:

Hs.107382

mRNA Expression by UniProt/SwissProt for DHX37 Gene:

Q8IY37-DHX37_HUMAN
Tissue specificity: Expressed in the fallopian tube, ovary, uterus and testis. Also expressed in the brain.

Evidence on tissue expression from TISSUES for DHX37 Gene

  • Nervous system(4.6)
  • Intestine(4.3)
genes like me logo Genes that share expression patterns with DHX37: view

Primer products for research

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for DHX37 Gene

Orthologs for DHX37 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DHX37 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia LOC452413 30
  • 96.87 (n)
Cow
(Bos Taurus)
Mammalia DHX37 30 31
  • 85.12 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia DHX37 30 31
  • 84.97 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Dhx37 30
  • 81.55 (n)
Mouse
(Mus musculus)
Mammalia Dhx37 30 17 31
  • 81.38 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia DHX37 31
  • 75 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia DHX37 31
  • 75 (a)
OneToOne
Chicken
(Gallus gallus)
Aves DHX37 30 31
  • 68.83 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia DHX37 31
  • 69 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC734015 30
  • 68.3 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.6945 30
Zebrafish
(Danio rerio)
Actinopterygii dhx37 30 31
  • 63.28 (n)
OneToOne
wufd11d06 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2549 30
Fruit Fly
(Drosophila melanogaster)
Insecta kz 30 31
  • 55.99 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002687 30
  • 47.97 (n)
Worm
(Caenorhabditis elegans)
Secernentea rha-2 30 31
  • 49.13 (n)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ECM16 31 33
  • 32 (a)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons FAS4 30
  • 47.91 (n)
Rice
(Oryza sativa)
Liliopsida Os02g0736600 30
  • 48.11 (n)
Os.25200 30
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.3778 31
  • 44 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.7994 30
Species where no ortholog for DHX37 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for DHX37 Gene

ENSEMBL:
Gene Tree for DHX37 (if available)
TreeFam:
Gene Tree for DHX37 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DHX37: view image

Paralogs for DHX37 Gene

genes like me logo Genes that share paralogs with DHX37: view

Variants for DHX37 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DHX37 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
691928 Pathogenic/Likely Pathogenic: Neurodevelopmental disorders; Intellectual disability; Neurodevelopmental delay; Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies 124,980,728(-) TC/GA
NM_032656.4(DHX37):c.499_500inv (p.Glu167Ser)
MISSENSE
869419 Pathogenic: Testicular regression syndrome 124,975,488(-) G/A
NM_032656.4(DHX37):c.911C>T (p.Thr304Met)
MISSENSE
869420 Pathogenic: Testicular regression syndrome 124,975,476(-) C/T
NM_032656.4(DHX37):c.923G>A (p.Arg308Gln)
MISSENSE
869421 Pathogenic: Testicular regression syndrome 124,964,419(-) G/A
NM_032656.4(DHX37):c.2020C>T (p.Arg674Trp)
MISSENSE
869422 Pathogenic: Testicular regression syndrome 124,964,958(-) G/A
NM_032656.4(DHX37):c.1784C>T (p.Ser595Phe)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for DHX37 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for DHX37 Gene

Variant ID Type Subtype PubMed ID
dgv890n106 CNV deletion 24896259
esv1114476 CNV deletion 17803354
esv2746553 CNV deletion 23290073
esv2746554 CNV deletion 23290073
esv3169108 CNV deletion 24192839
esv3549942 CNV deletion 23714750
nsv1144663 CNV deletion 24896259
nsv1149138 CNV deletion 26484159
nsv520994 CNV gain+loss 19592680
nsv560595 CNV gain 21841781

Variation tolerance for DHX37 Gene

Residual Variation Intolerance Score: 96.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.60; 95.63% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DHX37 Gene

Human Gene Mutation Database (HGMD)
DHX37
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DHX37

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DHX37 Gene

Disorders for DHX37 Gene

MalaCards: The human disease database

(18) MalaCards diseases for DHX37 Gene - From: OMI, CVR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search DHX37 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DHX37_HUMAN
  • Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies (NEDBAVC) [MIM:618731]: An autosomal recessive neurodevelopmental disorder characterized by severe developmental delay, impaired intellectual development, hypotonia, brain anomalies including cortical volume loss, corpus callosum dysgenesis and cerebellar hypoplasia, and variable dysmorphic features. Patients may have platyspondyly, scoliosis, and cardiac anomalies. {ECO:0000269 PubMed:26539891, ECO:0000269 PubMed:31256877}. Note=The disease may be caused by variants affecting the gene represented in this entry.
  • 46,XY sex reversal 11 (SRXY11) [MIM:273250]: An autosomal dominant disorder of sex development. Affected individuals have a 46,XY karyotype and a genital phenotype that may range from predominantly female to predominantly male, including marked sex ambiguity. Approximately half of patients present with micropenis and bilateral or unilateral cryptorchidism, and half present with female-appearing or ambiguous external genitalia. {ECO:0000269 PubMed:31287541, ECO:0000269 PubMed:31337883}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for DHX37

genes like me logo Genes that share disorders with DHX37: view

No data available for Genatlas for DHX37 Gene

Publications for DHX37 Gene

  1. Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome. (PMID: 31337883) McElreavey K … Bashamboo A (Genetics in medicine : official journal of the American College of Medical Genetics 2020) 3 4 74
  2. Paralog Studies Augment Gene Discovery: DDX and DHX Genes. (PMID: 31256877) Paine I … Lupski JR (American journal of human genetics 2019) 3 4 74
  3. Genetic Evidence of the Association of DEAH-Box Helicase 37 Defects With 46,XY Gonadal Dysgenesis Spectrum. (PMID: 31287541) da Silva TE … Domenice S (The Journal of clinical endocrinology and metabolism 2019) 3 4 74
  4. Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10819331) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 2 3 4
  5. The human RNA helicase DHX37 is required for release of the U3 snoRNP from pre-ribosomal particles. (PMID: 30582406) Choudhury P … Bohnsack MT (RNA biology 2019) 3 4

Products for DHX37 Gene

Sources for DHX37 Gene