Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
50814
Gene name Gene Name - the full gene name approved by the HGNC.
NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NSDHL
Synonyms (NCBI Gene) Gene synonyms aliases
H105E3, SDR31E1, XAP104
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xq28
Summary Summary of gene provided in NCBI Entrez 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 cho
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs104894901 G>A Pathogenic Coding sequence variant, missense variant
rs104894902 C>T Pathogenic Coding sequence variant, stop gained
rs104894903 C>T Pathogenic Coding sequence variant, stop gained
rs104894904 G>C Pathogenic Coding sequence variant, missense variant
rs104894905 G>T Pathogenic Coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT016464 hsa-miR-193b-3p Proteomics 21512034
MIRT1194887 hsa-miR-1252 CLIP-seq
MIRT1194888 hsa-miR-145 CLIP-seq
MIRT1194889 hsa-miR-3977 CLIP-seq
MIRT1194890 hsa-miR-4763-5p CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000252 Function C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity TAS
GO:0001942 Process Hair follicle development IEA
GO:0003854 Function 3-beta-hydroxy-delta5-steroid dehydrogenase activity IEA
GO:0005515 Function Protein binding IPI 32296183, 32814053
GO:0005783 Component Endoplasmic reticulum IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
300275 13398 ENSG00000147383
Protein
UniProt ID Q15738
Protein name Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating (EC 1.1.1.170) (Protein H105e3)
Protein function Catalyzes the NAD(P)(+)-dependent oxidative decarboxylation of the C4 methyl groups of 4-alpha-carboxysterols in post-squalene cholesterol biosynthesis (By similarity). Also plays a role in the regulation of the endocytic trafficking of EGFR (By
PDB 6JKG , 6JKH
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01073 3Beta_HSD 41 297 3-beta hydroxysteroid dehydrogenase/isomerase family Family
Tissue specificity TISSUE SPECIFICITY: Brain, heart, liver, lung, kidney, skin and placenta.
Sequence
Sequence length 373
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Steroid biosynthesis
Metabolic pathways
  Cholesterol biosynthesis
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Carcinoma of the head and neck Squamous cell carcinoma of the head and neck rs121909237, rs121909250, rs121909251, rs121909252, rs28934571, rs28934574, rs28934576, rs28934578, rs121912664, rs397516436, rs121912666, rs397514495, rs587782705, rs193920774, rs730882001
View all (7 more)
23125191
Child syndrome CHILD syndrome rs104894909, rs104894901, rs104894902, rs104894903, rs104894904, rs104894905, rs137853863, rs141571609, rs587784225, rs587784226, rs587784222, rs797045835, rs1602937895
Ck syndrome CK syndrome rs121909834, rs121909833 27604308, 25900314, 10710235, 19377476, 21129721, 19842190
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Unknown
Disease term Disease name Evidence References Source
CK Syndrome CK syndrome GenCC
Associations from Text Mining
Disease Name Relationship Type References
Autism Spectrum Disorder Associate 30376821
Brain Diseases Associate 18825599
Carcinoma Renal Cell Associate 34513998
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects Associate 18825599, 30376821, 33139364, 34957706, 35853659, 40222685
Disease Associate 30376821
Free sialic acid storage disease Associate 30376821
Gastrointestinal Diseases Associate 34957706
Genetic Diseases X Linked Associate 24607067, 34957706
Goldenhar Syndrome Associate 18825599
Intellectual Disability Associate 30376821