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Aliases for NSDHL Gene

Aliases for NSDHL Gene

  • NAD(P) Dependent Steroid Dehydrogenase-Like 2 3 5
  • Short Chain Dehydrogenase/Reductase Family 31E, Member 1 2 3
  • Protein H105e3 3 4
  • EC 4 56
  • H105E3 3 4
  • Sterol-4-Alpha-Carboxylate 3-Dehydrogenase, Decarboxylating 3
  • SDR31E1 3
  • XAP104 3

External Ids for NSDHL Gene

Previous GeneCards Identifiers for NSDHL Gene

  • GC0XP150618
  • GC0XP151670
  • GC0XP151750
  • GC0XP151999
  • GC0XP140816

Summaries for NSDHL Gene

Entrez Gene Summary for NSDHL Gene

  • The protein encoded by this gene is localized in the endoplasmic reticulum and is involved in cholesterol biosynthesis. Mutations in this gene are associated with CHILD syndrome, which is a X-linked dominant disorder of lipid metabolism with disturbed cholesterol biosynthesis, and typically lethal in males. Alternatively spliced transcript variants with differing 5' UTR have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for NSDHL Gene

NSDHL (NAD(P) Dependent Steroid Dehydrogenase-Like) is a Protein Coding gene. Diseases associated with NSDHL include Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects and Ck Syndrome. Among its related pathways are cholesterol biosynthesis I and Metabolism. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor and 3-beta-hydroxy-delta5-steroid dehydrogenase activity. An important paralog of this gene is SDR42E1.

UniProtKB/Swiss-Prot for NSDHL Gene

  • Involved in the sequential removal of two C-4 methyl groups in post-squalene cholesterol biosynthesis.

Gene Wiki entry for NSDHL Gene

Additional gene information for NSDHL Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NSDHL Gene

Genomics for NSDHL Gene

GeneHancer (GH) Regulatory Elements for NSDHL Gene

Promoters and enhancers for NSDHL Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XI152829 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 +1.3 1252 4.8 HDGF PKNOX1 ATF1 ARID4B SIN3A DMAP1 BRCA1 YY1 POLR2B GLIS2 NSDHL CETN2 ZNF185 PNMA6A GC0XM152591
GH0XI152893 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 0.2 +65.1 65062 5.5 BCOR NCOA3 CTCF PKNOX1 KLF1 NFIB NEUROD1 SIN3A ZMYM3 CTBP1 ZNF185 CETN2 GC0XM152591 NSDHL
GH0XI152878 Enhancer 0.4 ENCODE 0.2 +48.2 48248 1.4 ATF7 ATF2 ZNF185 NSDHL GC0XM152591
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around NSDHL on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NSDHL gene promoter:

Genomic Locations for NSDHL Gene

Genomic Locations for NSDHL Gene
38,763 bases
Plus strand

Genomic View for NSDHL Gene

Genes around NSDHL on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for NSDHL Gene

Proteins for NSDHL Gene

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

    Protein Symbol:
    Recommended name:
    Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating
    Protein Accession:
    Secondary Accessions:
    • D3DWT6
    • O00344

    Protein attributes for NSDHL Gene

    373 amino acids
    Molecular mass:
    41900 Da
    Quaternary structure:
    No Data Available

neXtProt entry for NSDHL Gene

Selected DME Specific Peptides for NSDHL Gene


Post-translational modifications for NSDHL Gene

  • Ubiquitination at isoforms=96 and isoforms=191
  • Modification sites at PhosphoSitePlus

Other Protein References for NSDHL Gene

Domains & Families for NSDHL Gene

Gene Families for NSDHL Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for NSDHL Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the 3-beta-HSD family.
  • Belongs to the 3-beta-HSD family.
genes like me logo Genes that share domains with NSDHL: view

Function for NSDHL Gene

Molecular function for NSDHL Gene

UniProtKB/Swiss-Prot CatalyticActivity:
A 3-beta-hydroxysteroid-4-alpha-carboxylate + NAD(P)(+) = a 3-oxosteroid + CO(2) + NAD(P)H.
UniProtKB/Swiss-Prot Function:
Involved in the sequential removal of two C-4 methyl groups in post-squalene cholesterol biosynthesis.

Enzyme Numbers (IUBMB) for NSDHL Gene

Gene Ontology (GO) - Molecular Function for NSDHL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000252 C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity TAS --
GO:0003854 3-beta-hydroxy-delta5-steroid dehydrogenase activity IEA,TAS --
GO:0016491 oxidoreductase activity IEA --
GO:0016616 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor IEA --
GO:0047012 sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity IEA --
genes like me logo Genes that share ontologies with NSDHL: view
genes like me logo Genes that share phenotypes with NSDHL: view

Human Phenotype Ontology for NSDHL Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for NSDHL Gene

miRTarBase miRNAs that target NSDHL

Inhibitory RNA Products

No data available for Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for NSDHL Gene

Localization for NSDHL Gene

Subcellular locations from UniProtKB/Swiss-Prot for NSDHL Gene

Endoplasmic reticulum membrane; Single-pass membrane protein. Lipid droplet. Note=Trafficking through the Golgi is necessary for ER membrane localization.

Subcellular locations from

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 NSDHL gene
Compartment Confidence
endoplasmic reticulum 5
peroxisome 2
cytosol 2
plasma membrane 1
extracellular 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (4)
  • Lipid droplets (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NSDHL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA,IDA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005811 lipid droplet IDA,IEA 14741744
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with NSDHL: view

Pathways & Interactions for NSDHL Gene

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

UniProtKB/Swiss-Prot Q15738-NSDHL_HUMAN

  • Pathway: Steroid biosynthesis; zymosterol biosynthesis; zymosterol from lanosterol: step 4/6.

Gene Ontology (GO) - Biological Process for NSDHL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001942 hair follicle development IEA --
GO:0006629 lipid metabolic process IEA --
GO:0006694 steroid biosynthetic process IEA --
GO:0006695 cholesterol biosynthetic process TAS --
GO:0007224 smoothened signaling pathway IEA --
genes like me logo Genes that share ontologies with NSDHL: view

No data available for SIGNOR curated interactions for NSDHL Gene

Drugs & Compounds for NSDHL Gene

(6) Drugs for NSDHL Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra Target 0
Carbon dioxide Approved, Investigational, Vet_approved Pharma 0
Oxygen Approved, Vet_approved Pharma 0
Water Approved Pharma 0
NAD Pharma Full agonist, Agonist 0

(12) Additional Compounds for NSDHL Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • 3-beta-Hydroxy-4-beta-methyl-5-alpha-cholest-7-ene-4-alpha-carboxylic acid
  • 3b-Hydroxy-4b-methyl-5a-cholest-7-ene-4a-carboxylic acid
  • 3beta-Hydroxy-4beta-methyl-5alpha-cholest-7-ene-4alpha-carboxylate
  • b-Hydroxy-4b-methyl-5a-cholest-7-ene-4a-carboxylate
  • beta-Hydroxy-4b-methyl-5a-cholest-7-ene-4a-carboxylate
  • (5a)-4-methylcholesta-8,24-dien-3-one
  • (5alpha)-4-methylcholesta-8,24-dien-3-one
  • 3-Dehydro-4-methylzymosterol
  • 3-Keto-4-methylzymosterol
  • 4-Methyl-5a-cholesta-8,24-dien-3-one
  • 4a-Carboxy-4b-methyl-5a-cholesta-8,24-dien-3b-ol
  • 4alpha-carboxy-4beta-methyl-5alpha-cholesta-8,24-dien-3beta-ol
4a-Methylzymosterol-4-carboxylic acid
  • 4alpha-Carboxy-4beta-methyl-5alpha-cholesta-8,24-dien-3beta-ol
  • 4alpha-Methylzymosterol-4-carboxylic acid
  • 5alpha-cholesta-8,24-dien-3-one
genes like me logo Genes that share compounds with NSDHL: view

Transcripts for NSDHL Gene

Unigene Clusters for NSDHL Gene

NAD(P) dependent steroid dehydrogenase-like:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

No ASD Table

Relevant External Links for NSDHL Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for NSDHL Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NSDHL Gene

This gene is overexpressed in Nasal epithelium (24.2), Bone (9.3), Fetal testis (9.1), and Testis (7.0).

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

Protein tissue co-expression partners for NSDHL Gene

NURSA nuclear receptor signaling pathways regulating expression of NSDHL Gene:


SOURCE GeneReport for Unigene cluster for NSDHL Gene:


mRNA Expression by UniProt/SwissProt for NSDHL Gene:

Tissue specificity: Brain, heart, liver, lung, kidney, skin and placenta.

Evidence on tissue expression from TISSUES for NSDHL Gene

  • Heart(4.3)
  • Liver(4.3)
  • Eye(4.2)
  • Nervous system(3.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NSDHL Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • skull
  • thyroid
  • tooth
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • abdominal wall
  • intestine
  • kidney
  • pelvis
  • ureter
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
  • blood
  • blood vessel
  • hair
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with NSDHL: view

No data available for mRNA differential expression in normal tissues for NSDHL Gene

Orthologs for NSDHL Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NSDHL Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia NSDHL 33 34
  • 92.96 (n)
(Canis familiaris)
Mammalia NSDHL 33 34
  • 89.1 (n)
(Bos Taurus)
Mammalia NSDHL 33 34
  • 88.83 (n)
(Mus musculus)
Mammalia Nsdhl 33 16 34
  • 85.23 (n)
(Rattus norvegicus)
Mammalia Nsdhl 33
  • 84.76 (n)
(Monodelphis domestica)
Mammalia NSDHL 34
  • 84 (a)
(Ornithorhynchus anatinus)
Mammalia NSDHL 34
  • 65 (a)
(Gallus gallus)
Aves NSDHL 33 34
  • 74.31 (n)
(Anolis carolinensis)
Reptilia NSDHL 34
  • 75 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia nsdhl 33
  • 70.95 (n)
(Danio rerio)
Actinopterygii nsdhl 33 34
  • 65.27 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9643 33
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR001W 33
  • 49.48 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERG26 33 34 36
  • 48.32 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C18513g 33
  • 47.05 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons 3BETAHSD/D2 33
  • 47.73 (n)
(Oryza sativa)
Liliopsida Os03g0405000 33
  • 49.75 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU02693 33
  • 47.92 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC3F6.02c 33
  • 46.71 (n)
Species where no ortholog for NSDHL was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for NSDHL Gene

Gene Tree for NSDHL (if available)
Gene Tree for NSDHL (if available)

Paralogs for NSDHL Gene

Paralogs for NSDHL Gene

(2) SIMAP similar genes for NSDHL Gene using alignment to 2 proteins:

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

Variants for NSDHL Gene

Sequence variations from dbSNP and Humsavar for NSDHL Gene

SNP ID Clin Chr 0X pos Variation AA Info Type
rs104894901 pathogenic, Child syndrome, Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) [MIM:308050] 152,865,888(+) G/A coding_sequence_variant, missense_variant
rs104894902 pathogenic, Child syndrome 152,865,903(+) C/T coding_sequence_variant, stop_gained
rs104894903 pathogenic, Child syndrome 152,850,418(+) C/T coding_sequence_variant, stop_gained
rs104894904 pathogenic, Child syndrome, Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) [MIM:308050] 152,865,819(+) G/C coding_sequence_variant, missense_variant
rs104894905 pathogenic, Child syndrome 152,862,632(+) G/T coding_sequence_variant, stop_gained

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

Variant ID Type Subtype PubMed ID
esv25868 CNV gain 19812545
esv2758901 CNV gain 17122850
esv3305102 CNV mobile element insertion 20981092
esv3308731 CNV mobile element insertion 20981092
esv3423214 CNV insertion 20981092
nsv470373 CNV gain 18288195
nsv7158 CNV insertion 18451855

Variation tolerance for NSDHL Gene

Residual Variation Intolerance Score: 63.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.70; 14.88% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NSDHL Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for NSDHL Gene

MalaCards: The human disease database

(9) MalaCards diseases for NSDHL Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
congenital hemidysplasia with ichthyosiform erythroderma and limb defects
  • child syndrome
ck syndrome
  • mental retardation, x-linked, with thin body habitus and cortical malformation
nsdhl-related disorders
children's interstitial lung disease
  • child
verruciform xanthoma of skin
  • cutaneous verruciform xanthoma
- elite association - COSMIC cancer census association via MalaCards
Search NSDHL in MalaCards View complete list of genes associated with diseases


  • CK syndrome (CKS) [MIM:300831]: A disorder characterized by mild to severe cognitive impairment, seizures, microcephaly, cerebral cortical malformations, dysmorphic facial features, and thin body habitus. {ECO:0000269 PubMed:21129721}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) [MIM:308050]: An X-linked dominant disorder of lipid metabolism with disturbed cholesterol biosynthesis, which typically results in male lethality. Clinically, it is characterized by congenital, unilateral, ichthyosisform erythroderma with striking lateralization, sharp midline demarcation, and ipsilateral limb defects and hypoplasia of the body. Limbs defects range from hypoplasia of digits or ribs to complete amelia, often including scoliosis. {ECO:0000269 PubMed:10710235, ECO:0000269 PubMed:11907515}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for NSDHL

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with NSDHL: view

No data available for Genatlas for NSDHL Gene

Publications for NSDHL Gene

  1. Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome. (PMID: 10710235) König A … Grzeschik KH (American journal of medical genetics 2000) 2 3 4 22 58
  2. Localization of mammalian NAD(P)H steroid dehydrogenase-like protein on lipid droplets. (PMID: 12837764) Ohashi M … Yoshimori T (The Journal of biological chemistry 2003) 2 3 22 58
  3. Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome. (PMID: 21129721) McLarren KW … Boerkoel CF (American journal of human genetics 2010) 3 4 58
  4. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PMID: 19027726) Persson B … Oppermann U (Chemico-biological interactions 2009) 2 3 58
  5. Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. (PMID: 18660489) Lu Y … Boer JM (Journal of lipid research 2008) 3 44 58

Products for NSDHL Gene

Sources for NSDHL Gene

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