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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	190
Gene name	Nuclear receptor subfamily 0 group B member 1
Gene symbol	NR0B1
Synonyms (NCBI Gene)	AHCAHCHAHXDAX-1DAX1DSSGTDHHGNROB1SRXY2
Chromosome	X
Chromosome location	Xp21.2
Summary	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

Show/Hide all (68)

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

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

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

577

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
46,XY sex reversal 2	Pathogenic; Likely pathogenic	rs2147007353, rs2147006209, rs2519049362, rs2519051075, rs2519051933, rs2519049357, rs1214621343, rs2519051723, rs2519051970, rs104894888, rs1569268070, rs1569268976, rs2519051360, rs1191878631, rs2519051604 View all (15 more)	RCV001389323 RCV001899630 RCV003064681 RCV003064682 RCV003041429 RCV002861608 RCV002857196 RCV003046637 RCV003044968 RCV001851797 RCV002512973 RCV003764555 RCV003783757 RCV003779429 RCV003797389 RCV003795203 RCV003802477 RCV000763207 RCV001865679 RCV000528817 RCV000540337 RCV000550678 RCV002530827 RCV000635250 RCV000703137 RCV000797777 RCV001037323 RCV001058717 RCV005213508 RCV005213515
Congenital adrenal hypoplasia, X-linked	Pathogenic; Likely pathogenic	rs2147007353, rs2147007424, rs2147006209, rs2147007005, rs764476639, rs2519052221, rs2519052283, rs2519049304, rs2519049362, rs2519051075, rs2519051933, rs2519049357, rs1214621343, rs2519051723, rs2519051970 View all (75 more)	RCV001389323 RCV002280832 RCV001899630 RCV002052278 RCV002286488 RCV002289390 RCV002471545 RCV002470403 RCV003064681 RCV003064682 RCV003041429 RCV002861608 RCV002857196 RCV003046637 RCV003044968 RCV000239459 RCV000011696 RCV000011697 RCV000011698 RCV000011699 RCV000011700 RCV000011701 RCV000011702 RCV000011703 RCV000011704 RCV000011705 RCV000011706 RCV000011707 RCV000011708 RCV000011711 RCV000011712 RCV000011714 RCV000011715 RCV000011716 RCV000011717 RCV000011718 RCV000011720 RCV000011722 RCV000011724 RCV003314430 RCV003335926 RCV003340937 RCV004786933 RCV003783757 RCV003779429 RCV003797389 RCV003795203 RCV003802477 RCV000462560 RCV000584087 RCV000513110 RCV000513523 RCV000512813 RCV000512779 RCV000513186 RCV000513603 RCV000513001 RCV000513598 RCV000512986 RCV000513408 RCV000512669 RCV000513078 RCV000513366 RCV000512757 RCV000513071 RCV000513478 RCV000512882 RCV000513037 RCV000030343 RCV000030344 RCV000528817 RCV000540337 RCV000550678 RCV000584295 RCV000583254 RCV000582454 RCV000584385 RCV000583156 RCV000581862 RCV000583015 RCV000581750 RCV000581188 RCV000703137 RCV000714749 RCV000722070 RCV000761451 RCV000049288 RCV001037323 RCV001058717 RCV001257092 RCV001260902 RCV001270620 RCV005213515
Differences in sex development	Likely pathogenic; Pathogenic	rs2519049376	RCV005865640
Nonpapillary renal cell carcinoma	Pathogenic	rs2147007353	RCV005912656
NR0B1-related disorder	Pathogenic; Likely pathogenic	rs1569268976, rs1926575027, rs2519051351, rs2519049376, rs2519050868	RCV002280091 RCV004527869 RCV004539021 RCV004529799 RCV004534210

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Mineralocorticoid deficiency, isolated	Conflicting classifications of pathogenicity	rs132630327	RCV000011725

Show/Hide Text Mining Associations (76)

Disease Name	Relationship Type	References
Associations from Text MiningDisease 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)