Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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

Show/Hide all(20)

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
rs104894909	C>T	Pathogenic	Coding sequence variant, missense variant
rs121909833	GAA>-	Pathogenic	Coding sequence variant, inframe deletion
rs121909834	->T	Pathogenic	Coding sequence variant, frameshift variant
rs137853862	G>A	Pathogenic	Coding sequence variant, missense variant
rs137853863	A>C,G	Pathogenic	Coding sequence variant, missense variant
rs141571609	C>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs375100066	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs587784222	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs587784223	C>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs587784224	G>A	Likely-pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs587784225	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs587784226	C>A,T	Pathogenic	Synonymous variant, stop gained, coding sequence variant
rs797045835	->CATG	Pathogenic	Frameshift variant, coding sequence variant
rs1328593149	C>A,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs1602937895	C>T	Likely-pathogenic	Coding sequence variant, missense variant

Show/Hide all(34)

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
MIRT1194891	hsa-miR-654-3p	CLIP-seq
MIRT1194892	hsa-miR-1265	CLIP-seq
MIRT1194893	hsa-miR-134	CLIP-seq
MIRT1194894	hsa-miR-3118	CLIP-seq
MIRT1194895	hsa-miR-4271	CLIP-seq
MIRT1194896	hsa-miR-4533	CLIP-seq
MIRT1194897	hsa-miR-4725-3p	CLIP-seq
MIRT1194898	hsa-miR-4747-5p	CLIP-seq
MIRT2056593	hsa-miR-298	CLIP-seq
MIRT2056594	hsa-miR-3135	CLIP-seq
MIRT2056595	hsa-miR-4438	CLIP-seq
MIRT2056596	hsa-miR-513a-5p	CLIP-seq
MIRT2285032	hsa-miR-24	CLIP-seq
MIRT2285033	hsa-miR-3155	CLIP-seq
MIRT2285034	hsa-miR-3155b	CLIP-seq
MIRT2056595	hsa-miR-4438	CLIP-seq
MIRT2285035	hsa-miR-484	CLIP-seq
MIRT2056596	hsa-miR-513a-5p	CLIP-seq
MIRT2582998	hsa-miR-1825	CLIP-seq
MIRT2582999	hsa-miR-199a-5p	CLIP-seq
MIRT2583000	hsa-miR-199b-5p	CLIP-seq
MIRT2583001	hsa-miR-3925-3p	CLIP-seq
MIRT2583002	hsa-miR-4663	CLIP-seq
MIRT2582998	hsa-miR-1825	CLIP-seq
MIRT2582999	hsa-miR-199a-5p	CLIP-seq
MIRT2583000	hsa-miR-199b-5p	CLIP-seq
MIRT2686628	hsa-miR-3657	CLIP-seq
MIRT2583001	hsa-miR-3925-3p	CLIP-seq
MIRT2583002	hsa-miR-4663	CLIP-seq

Show/Hide all(30)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000252	Function	3-beta-hydroxysteroid dehydrogenase [NAD(P)+]/C4-decarboxylase activity	IEA
GO:0000252	Function	3-beta-hydroxysteroid dehydrogenase [NAD(P)+]/C4-decarboxylase activity	TAS
GO:0001942	Process	Hair follicle development	IEA
GO:0003854	Function	3-beta-hydroxy-Delta5-steroid dehydrogenase (NAD+) activity	TAS	10710235
GO:0005515	Function	Protein binding	IPI	32296183, 32814053
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IC	10710235
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005811	Component	Lipid droplet	IDA	14741744, 21498505
GO:0005811	Component	Lipid droplet	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006694	Process	Steroid biosynthetic process	IEA
GO:0006695	Process	Cholesterol biosynthetic process	IC	10710235
GO:0006695	Process	Cholesterol biosynthetic process	IEA
GO:0006695	Process	Cholesterol biosynthetic process	TAS	10710235
GO:0007224	Process	Smoothened signaling pathway	IEA
GO:0008202	Process	Steroid metabolic process	IEA
GO:0008203	Process	Cholesterol metabolic process	IBA
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0016020	Component	Membrane	IEA
GO:0016126	Process	Sterol biosynthetic process	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016616	Function	Oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	IBA
GO:0016616	Function	Oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	IEA
GO:0060716	Process	Labyrinthine layer blood vessel development	IEA
GO:0102175	Function	3-beta-hydroxysteroid dehydrogenase (NAD+)/C4-decarboxylase activity	IEA

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

MEPAVSEPMRDQVARTHLTEDTPKVNADIEKVNQNQAKRCTVIGGSGFLGQHMVEQLLAR
GYAVNVFDIQQGFDNPQVRFFLGDLCSRQDLYPALKGVNTVFHCASPPPSSNNKELFYRV
NYIGTKNVIETCKEAGVQKLILTSSASVIFEGVDIKNGTEDLPYAMKPIDYYTETKILQE
RAVLGANDPEKNFLTTAIRPHGIFGPRDPQLVPILIEAARNGKMKFVIGNGKNLVDFTFV
ENVVHGHILAAEQLSRDSTLGGKAFHITNDEPIPFWTFLSRILTGLNYEAPKYHIPYWVA
YYLALLLSLLVMVISPVIQLQPTFTPMRVALAGTFHYYSCERAKKAMGYQPLVTMDDAME
RTVQSFRHLRRVK

Sequence length

373

Interactions

View interactions

	KEGG		Reactome
	Steroid biosynthesis Metabolic pathways		Cholesterol biosynthesis

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Child Syndrome	child syndrome	rs587784222, rs104894902, rs797045835, rs104894903, rs1602937895, rs104894904, rs104894905, rs137853863, rs141571609, rs587784225, rs104894909, rs587784226, rs104894901	N/A
CK Syndrome	ck syndrome	rs121909834, rs121909833	N/A

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Connective Tissue Disease	Connective tissue disorder	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (19)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
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
Mental Retardation X Linked 2	Associate	40222685
Multiple Sclerosis	Associate	35905688
Neoplasms	Stimulate	33219617
Nevus	Associate	35853659
Organizing Pneumonia	Associate	18825599
Skin Diseases	Associate	34957706
Social Communication Disorder	Associate	30376821
Stomach Neoplasms	Stimulate	33219617
Syndrome	Associate	24607067

NSDHL (NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL)