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

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	190
Gene name Gene Name - the full gene name approved by the HGNC.	Nuclear receptor subfamily 0 group B member 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	NR0B1
Synonyms (NCBI Gene) Gene synonyms aliases	AHC, AHCH, AHX, DAX-1, DAX1, DSS, GTD, HHG, NROB1, SRXY2
Chromosome Chromosome number	X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	Xp21.2
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a protein that contains a DNA-binding domain. The encoded protein acts as a dominant-negative regulator of transcription which is mediated by the retinoic acid receptor. This protein also functions as an anti-testis gene by acting antago

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SNP ID	Visualize variation	Clinical significance	Consequence
rs28935481	T>A,C	Pathogenic	Coding sequence variant, missense variant
rs28935482	C>G	Pathogenic	Coding sequence variant, missense variant
rs104894886	C>T	Pathogenic	Coding sequence variant, stop gained
rs104894887	A>T	Pathogenic	Coding sequence variant, stop gained
rs104894888	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs104894889	C>T	Pathogenic	Coding sequence variant, stop gained
rs104894890	G>A	Pathogenic	Coding sequence variant, stop gained
rs104894891	C>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs104894892	G>T	Pathogenic	Coding sequence variant, stop gained
rs104894894	G>A	Pathogenic	Coding sequence variant, stop gained
rs104894895	G>C	Pathogenic	Coding sequence variant, stop gained
rs104894896	C>A	Pathogenic	Coding sequence variant, missense variant
rs104894897	A>C	Pathogenic	Coding sequence variant, missense variant
rs104894898	G>A,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs104894899	A>G,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs104894900	A>C	Pathogenic	Coding sequence variant, missense variant
rs104894906	G>T	Pathogenic	Coding sequence variant, stop gained
rs104894907	A>G	Pathogenic	Coding sequence variant, missense variant
rs104894908	G>A,C	Pathogenic	Coding sequence variant, stop gained, missense variant
rs132630327	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, missense variant
rs193205940	C>T	Conflicting-interpretations-of-pathogenicity, benign	Missense variant, coding sequence variant
rs386134262	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs386134263	G>A	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs387907373	C>A	Pathogenic	Missense variant, coding sequence variant
rs753734546	G>C,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs767828388	G>A,C	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs886041215	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1057517778	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1060499835	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1064793475	TT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1085307677	ACAGGAGTGCCACGGGCCGCCCACCCGGAAGCCCCGCTCTG>GTAAGTGGCTTTC,TTCT	Pathogenic	Frameshift variant, coding sequence variant
rs1131691564	C>T	Pathogenic	Coding sequence variant, stop gained
rs1311271225	G>A,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs1324519932	C>A,G	Pathogenic	Missense variant, stop gained, coding sequence variant
rs1489209061	C>G,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs1555972632	GTGTGGCCCACATGACTTTATATCTTTGTACAGAGCATTTCCAGCATCATATCATCCATGCTGACTGTGCCGATGATGGGCCTGAAGAACAGTTCAGCAATGACATTGGCATTGATGAATCTCAGCAGGAAAAGGGTACTATTAAGTTCGATGAATCTGTCATGGGGCCCTTGGTGCGTCATCCTGGTGTGTTCACTGAGTATTTGCTGAGTTCCCCACTGGAGTCCCTGAATGTACTTCACGCACTGCAGGCCC	Pathogenic	Intron variant, terminator codon variant, 3 prime UTR variant, splice acceptor variant
rs1555972640	TG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555972641	A>G	Pathogenic	Missense variant, coding sequence variant
rs1555972655	CT>-	Pathogenic	Stop gained, coding sequence variant
rs1555972666	C>T	Pathogenic	Splice acceptor variant
rs1555972943	TAAGGCCAGTACCCTTACCC>-	Pathogenic	Intron variant, coding sequence variant, splice donor variant
rs1555972957	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1555972994	G>A	Pathogenic	Stop gained, coding sequence variant
rs1555973010	G>A	Pathogenic	Stop gained, coding sequence variant
rs1555973021	A>G	Pathogenic	Missense variant, coding sequence variant
rs1555973031	G>A	Pathogenic	Stop gained, coding sequence variant
rs1555973045	A>T	Pathogenic	Missense variant, coding sequence variant
rs1555973058	G>T	Pathogenic	Missense variant, coding sequence variant
rs1555973063	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555973091	CGTGGGCACGCAGTAGA>GATG	Pathogenic	Frameshift variant, coding sequence variant
rs1555973092	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1555973115	TT>-,T	Pathogenic	Frameshift variant, coding sequence variant
rs1555973117	C>-,CC	Pathogenic	Frameshift variant, coding sequence variant
rs1555973119	->TGGG	Pathogenic	Frameshift variant, coding sequence variant
rs1555973120	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555973131	C>T	Pathogenic	Stop gained, coding sequence variant
rs1555973132	C>T	Pathogenic	Stop gained, coding sequence variant
rs1555973147	GTTTG>CGGAGCTCA	Pathogenic	Stop gained, coding sequence variant, inframe indel
rs1555973172	G>T	Pathogenic	Stop gained, coding sequence variant
rs1555973189	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1569268048	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569268070	GAGT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569268878	G>A	Pathogenic	Coding sequence variant, stop gained
rs1569268919	TTACCCCCTGGCCTCT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1569268976	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569269179	C>T	Pathogenic	Coding sequence variant, stop gained
rs1569269195	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1601792367	ACCAGC>-	Pathogenic	Coding sequence variant, inframe deletion

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miRTarBase ID	miRNA	Experiments	Reference
MIRT437448	hsa-miR-561-3p	Luciferase reporter assay	24104199

Transcription factors

Show/Hide all(5)

Transcription factor	Regulation	Reference
ESRRG	Activation	16314306
EWSR1	Unknown	18591936
NR5A1	Activation	11990799
NR5A1	Unknown	7677767
SF1	Unknown	11923472;9232190

Show/Hide all(59)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IBA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	19651776
GO:0000785	Component	Chromatin	ISA
GO:0003006	Process	Developmental process involved in reproduction	IEA
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003714	Function	Transcription corepressor activity	IBA
GO:0003714	Function	Transcription corepressor activity	IDA	32433991
GO:0003714	Function	Transcription corepressor activity	IEA
GO:0003714	Function	Transcription corepressor activity	IMP	19651776
GO:0003723	Function	RNA binding	IDA	10848616
GO:0003723	Function	RNA binding	IEA
GO:0005515	Function	Protein binding	IPI	12771131, 16709599, 16713569, 17686645, 25416956, 25910212, 32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	7990953, 10848616, 16709599, 17686645, 19651776
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	16709599, 17686645
GO:0005737	Component	Cytoplasm	IEA
GO:0005840	Component	Ribosome	IDA	10848616
GO:0005840	Component	Ribosome	IEA
GO:0007283	Process	Spermatogenesis	IBA
GO:0007283	Process	Spermatogenesis	IEA
GO:0007530	Process	Sex determination	IBA
GO:0007530	Process	Sex determination	IEA
GO:0008104	Process	Intracellular protein localization	IDA	11875111
GO:0008406	Process	Gonad development	IMP	7990953
GO:0008584	Process	Male gonad development	IBA
GO:0008584	Process	Male gonad development	IEA
GO:0008584	Process	Male gonad development	IMP	7990958
GO:0010894	Process	Negative regulation of steroid biosynthetic process	IDA	9384387
GO:0016020	Component	Membrane	IDA	10848616
GO:0016607	Component	Nuclear speck	IDA
GO:0016922	Function	Nuclear receptor binding	IBA
GO:0016922	Function	Nuclear receptor binding	IPI	11875111
GO:0019904	Function	Protein domain specific binding	IPI	15100213, 17686645
GO:0021854	Process	Hypothalamus development	NAS	15464421
GO:0021983	Process	Pituitary gland development	NAS	15464421
GO:0030238	Process	Male sex determination	IEA
GO:0030325	Process	Adrenal gland development	IBA
GO:0030325	Process	Adrenal gland development	IEA
GO:0030325	Process	Adrenal gland development	IMP	7990953
GO:0032448	Function	DNA hairpin binding	IDA	9384387
GO:0033144	Process	Negative regulation of intracellular steroid hormone receptor signaling pathway	IDA	11875111
GO:0033327	Process	Leydig cell differentiation	IEA
GO:0034451	Component	Centriolar satellite	IDA
GO:0035902	Process	Response to immobilization stress	IEA
GO:0035987	Process	Endodermal cell differentiation	IEA
GO:0042803	Function	Protein homodimerization activity	IPI	16709599
GO:0045721	Process	Negative regulation of gluconeogenesis	IDA	19651776
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	7990953, 9384387
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0050682	Function	AF-2 domain binding	IPI	17686645
GO:0060008	Process	Sertoli cell differentiation	IEA
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IPI	19651776

MIM	HGNC	e!Ensembl
300473	7960	ENSG00000169297

Protein

UniProt ID

P51843

Protein name

Nuclear receptor subfamily 0 group B member 1 (DSS-AHC critical region on the X chromosome protein 1) (Nuclear receptor DAX-1)

Protein function

Nuclear receptor that lacks a DNA-binding domain and acts as a corepressor that inhibits the transcriptional activity of other nuclear receptors through heterodimeric interactions (PubMed:12482977, PubMed:32433991). Component of a cascade requir

PDB

4RWV

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF14046	NR_Repeat	1 → 49	Nuclear receptor repeat	Family
PF14046	NR_Repeat	68 → 115	Nuclear receptor repeat	Family
PF14046	NR_Repeat	134 → 181	Nuclear receptor repeat	Family
PF14046	NR_Repeat	201 → 246	Nuclear receptor repeat	Family
PF00104	Hormone_recep	249 → 453	Ligand-binding domain of nuclear hormone receptor	Domain

Sequence

MAGENHQWQGSILYNMLMSAKQTRAAPEAPETRLVDQCWGCSCGDEPGVGREGLLGGRNV
ALLYRCCFCGKDHPRQGSILYSMLTSAKQTYAAPKAPEATLGPCWGCSCGSDPGVGRAGL
PGGRPVALLYRCCFCGEDHPRQGSILYSLLTSSKQTHVAPAAPEARPGGAWWDRSYFAQR
PGGKEALPGGRATALLYRCCFCGEDHPQQGSTLYCVPTSTNQAQAAPEERPRAPWWDTSS
GALRPVALKSPQVVCEAASAGLLKTLRFVKYLPCFQVLPLDQQLVLVRNCWASLLMLELA
QDRLQFETVEVSEPSMLQKILTTRRRETGGNEPLPVPTLQHHLAPPAEARKVPSASQVQA
IKCFLSKCWSLNISTKEYAYLKGTVLFNPDVPGLQCVKYIQGLQWGTQQILSEHTRMTHQ
GPHDRFIELNSTLFLLRFINANVIAELFFRPIIGTVSMDDMMLEMLCTKI

Sequence length

470

Interactions

View interactions

	KEGG		Reactome
	Cortisol synthesis and secretion		Nuclear Receptor transcription pathway

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
congenital adrenal hypoplasia, x-linked	Congenital adrenal hypoplasia, X-linked	rs1555973172, rs104894896, rs1555973189, rs386134263, rs753734546, rs104894890, rs132630327, rs28935482, rs1569268048, rs387907373, rs1555973058, rs104894886, rs1555973131, rs1569268070, rs1324519932 View all (41 more)	N/A

Show/Hide Unknown Diseases (2)

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.
46, XY Sex Reversal	46,XY sex reversal 2	N/A	N/A	GenCC
Systemic lupus erythematosus	Systemic lupus erythematosus	N/A	N/A	GWAS

Show/Hide Text Mining Associations (76)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
46 XX Testicular Disorders of Sex Development	Associate	12519885, 15084237, 17686645, 18827407, 20845307, 24668626, 26537215, 35984215, 36613932, 37298283
Achondroplasia	Associate	25731006
Addison Disease	Associate	17202731, 18827407, 25171651, 25402384, 27087023, 27376611, 32938577, 34193132, 35432221, 37118935
Adenocarcinoma	Associate	18034892
Adrenal Gland Diseases	Associate	12519885
Adrenal Gland Neoplasms	Associate	16514244, 32028936
Adrenal Hyperplasia Congenital	Associate	12213854, 12519885, 12940459, 18984668, 21227944, 23367499, 25079468, 25402384, 26537215, 34373561, 35432221, 36568103
Adrenal Insufficiency	Associate	12213854, 16514244, 23367499, 25402384, 28741070, 30617386, 31164167, 32028936
Alzheimer Disease	Associate	9780232
Atrophy	Associate	37118935
Azoospermia	Associate	21227944, 28741070, 35432221
Breast Diseases	Associate	15084237
Breast Neoplasms	Associate	15084237, 22431515, 23846226, 26458823
Breast Neoplasms	Inhibit	30840280
Carcinogenesis	Associate	19920188, 23939428
Carcinoma Embryonal	Associate	1736309
Carcinoma Hepatocellular	Inhibit	25171651
Carcinoma Hepatocellular	Associate	33228611, 33407546
Carcinoma Ovarian Epithelial	Associate	14611675
Carcinoma Pancreatic Ductal	Associate	34691034
Cerebellar Ataxia and Hypogonadotropic Hypogonadism	Associate	34373561
Chromosome Disorders	Associate	12940459
Developmental Disabilities	Associate	18762570
Diabetes Insipidus Neurogenic	Associate	32460754
Disorders of Sex Development	Associate	22761912, 26980296, 29219112
Dosage sensitive sex reversal	Associate	35984215
Down Syndrome Critical Region	Associate	31642359
Endometrial Neoplasms	Associate	16232195, 32894083
Epileptic Syndromes	Associate	27485500
Esophageal Neoplasms	Associate	22675025
Femoral Fractures	Associate	36568103
Gaucher Disease	Associate	35984215
Genetic Diseases Inborn	Associate	12519885
Gonadal Disorders	Associate	36227713
Gonadal Dysgenesis	Associate	36227713, 36613932
Gonadal Dysgenesis 46 XY	Associate	36227713, 36613932, 38200083
Hashimoto Disease	Associate	39376180
Heart Failure	Associate	35784540
Hyperaldosteronism	Associate	24531914
Hyperplasia	Stimulate	16232195
Hypoadrenocorticism Familial	Associate	10022408, 10713076, 11443184, 12519885, 12940459, 15084237, 16514244, 16684822, 17202731, 17573657, 17686645, 18380948, 18762570, 21227944, 22456342 View all (20 more)
Hypoaldosteronism	Associate	31164167
Hypogonadism	Associate	10713076, 11443184, 12213854, 16684822, 17686645, 18380948, 21227944, 22761912, 25402384, 26537215, 28741070, 31642359, 32129306, 32460754, 34373561 View all (5 more)
Hypoxia	Associate	34691034
Immunologic Deficiency Syndromes	Associate	39376180
Infertility	Associate	28741070, 38200083
Infertility Male	Associate	32860660
Intellectual Disability	Associate	10204842, 12940459
Lung Neoplasms	Associate	28965760
Male Infertility with Large Headed Multiflagellar Polyploid Spermatozoa	Associate	35849255
Malignant hyperthermia susceptibility type 1	Associate	8770879
Mental Retardation X Linked	Associate	10204842
Muscular Dystrophies	Associate	18762570
Neoplasm Metastasis	Associate	25171651
Neoplasms	Associate	14611675, 18034892, 20956553, 25093581, 26800504, 28965760
Nerve Degeneration	Associate	34941945
Nervous System Diseases	Associate	34941945
Neuroblastoma	Associate	19726747, 36231133
Oligospermia	Associate	28741070
Osteoporosis	Associate	36568103
Ovotesticular Disorders of Sex Development	Associate	29219112
Parkinson Disease	Stimulate	34941945
Pituitary Diseases	Associate	8770879
Posterior Leukoencephalopathy Syndrome	Associate	12213854
Primary Ovarian Insufficiency	Associate	35456418
Prostatic Neoplasms	Associate	18827407, 37169162
Prostatitis	Associate	23185447
Renal Insufficiency	Associate	11443184, 12519885, 16684822, 23367499, 32129306
Reproductive Tract Infections	Associate	12519885
Rhabdomyosarcoma	Associate	26168243
Rhabdomyosarcoma Alveolar	Associate	26168243
Sarcoma Ewing	Associate	18626011, 19920188, 22749036, 23185447, 25093581, 37298283
Schizophrenia	Associate	12213854
Sex Chromosome Disorders of Sex Development	Associate	25171651
Taste Disorders	Associate	34193132
Testicular Diseases	Associate	22761912

NR0B1 (nuclear receptor subfamily 0 group B member 1)