SRXY2
MCID: 46X049
MIFTS: 52

46,xy Sex Reversal 2 (SRXY2)

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for 46,xy Sex Reversal 2

MalaCards integrated aliases for 46,xy Sex Reversal 2:

Name: 46,xy Sex Reversal 2 57 12 72 15
Dosage-Sensitive Sex Reversal 57 12 20 72 70
46xy Sex Reversal 2, Dosage-Sensitive 57 12 29 13
Dss 57 12 20 72
46,xy Sex Reversal, Type 2 29 6 39
Srxy2 57 12 72
46,xy Sex Reversal, Dax1-Related 57 12
Dosage-Sensitive Sex Reversal; Dss 57
Disorder of Sex Development, 46,xy 44
46,xy Sex Reversal Dax1-Related 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
x-linked


HPO:

31
46,xy sex reversal 2:
Inheritance x-linked inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111777
OMIM® 57 300018
OMIM Phenotypic Series 57 PS400044
MeSH 44 D058490
MedGen 41 C1848296
SNOMED-CT via HPO 68 263934009
UMLS 70 C1848296

Summaries for 46,xy Sex Reversal 2

Disease Ontology : 12 A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has material basis in hemizygous duplication of NR0B1 on chromosome Xp21.2.

MalaCards based summary : 46,xy Sex Reversal 2, also known as dosage-sensitive sex reversal, is related to gonadal dysgenesis and adrenal hypoplasia, congenital. An important gene associated with 46,xy Sex Reversal 2 is NR0B1 (Nuclear Receptor Subfamily 0 Group B Member 1), and among its related pathways/superpathways are Aldosterone synthesis and secretion and Glucose / Energy Metabolism. The drugs Testosterone and Methyltestosterone have been mentioned in the context of this disorder. Affiliated tissues include liver, breast and prostate, and related phenotypes are sex reversal and Reduced mammosphere formation

UniProtKB/Swiss-Prot : 72 46,XY sex reversal 2: A condition characterized by male-to-female sex reversal in the presence of a normal 46,XY karyotype.

More information from OMIM: 300018 PS400044

Related Diseases for 46,xy Sex Reversal 2

Diseases in the 46,xx Sex Reversal 1 family:

46,xy Sex Reversal 4 46,xy Sex Reversal 7
46,xy Sex Reversal 11 46,xx Sex Reversal 2
46,xy Sex Reversal 2 46,xx Sex Reversal 3
46,xy Sex Reversal 1 46,xy Sex Reversal 3
46,xy Sex Reversal 5 46,xy Sex Reversal 6
46,xy Sex Reversal 8 46,xy Sex Reversal 9
46,xy Sex Reversal 10 46,xx Sex Reversal 4
46,xx Sex Reversal 5 46,xx Sex Reversal
46,xy Sex Reversal

Diseases related to 46,xy Sex Reversal 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 194)
# Related Disease Score Top Affiliating Genes
1 gonadal dysgenesis 30.0 WT1 SOX9 NR5A1 NR0B1 FGF9
2 adrenal hypoplasia, congenital 29.9 WNT4 STAR NR5A1 NR0B1 MC2R HSD3B2
3 hypoadrenocorticism, familial 29.5 STAR NR5A1 NR0B1 MC2R HSD3B2 CYP21A2
4 body mass index quantitative trait locus 11 29.0 STAR NR5A1 NR0B2 MC2R CYP21A2 CYP19A1
5 disorder of sexual development 28.7 WT1 WNT4 STAR SOX9 NR5A1 NR0B1
6 46,xy sex reversal 27.1 WT1 WNT4 STAR SOX9 NR5A2 NR5A1
7 46,xy sex reversal 5 11.7
8 46,xy sex reversal 3 11.6
9 dengue disease 11.3
10 hypertrophic neuropathy of dejerine-sottas 11.3
11 colitis 11.2
12 neuropathy, congenital hypomyelinating, 1, autosomal recessive 11.1
13 dysosteosclerosis 11.1
14 neuropathy, congenital hypomyelinating, 2 11.1
15 dengue shock syndrome 11.0
16 dengue virus 11.0
17 charcot-marie-tooth disease, demyelinating, type 4f 10.9
18 ulcerative colitis 10.9
19 inflammatory bowel disease 10.8
20 diarrhea 10.3
21 microcystic stromal tumor 10.3 WT1 NR5A1
22 crohn's disease 10.3
23 colorectal cancer 10.3
24 46,xx sex reversal 1 10.2 SOX9 NR5A1 NR0B1
25 ovarian sex-cord stromal tumor 10.2 WT1 NR5A1
26 denys-drash syndrome 10.2 WT1 NR5A1 NR0B1
27 45,x/46,xy mixed gonadal dysgenesis 10.2 WNT4 NR0B1
28 androgen insensitivity syndrome 10.2 NR5A1 NR0B1 CYP17A1
29 alternating hemiplegia of childhood 10.2 NR5A1 NR0B1 MC2R
30 nonsyndromic disorders of testicular development 10.2 WNT4 NR5A1 NR0B1
31 acute adrenal insufficiency 10.2 CYP21A2 CYP11A1
32 mammographic density 10.2 CYP19A1 CYP17A1
33 hermaphroditism 10.2 WNT4 SOX9 NR0B1
34 46,xy sex reversal 9 10.2 WT1 SOX9 NR5A1
35 cytokine deficiency 10.2
36 frasier syndrome 10.2 WT1 SOX9 NR5A1
37 ovarian endometrioid stromal sarcoma 10.2 WT1 CYP19A1
38 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 10.2 NR5A1 NR0B1 MC2R CYP11A1
39 waterhouse-friderichsen syndrome 10.2 MC2R CYP21A2
40 cytochrome p450 oxidoreductase deficiency 10.2 CYP21A2 CYP17A1
41 sertoli cell tumor 10.2 WT1 NR5A1 CYP19A1
42 hyperaldosteronism, familial, type i 10.2 MC2R CYP17A1 CYP11B1
43 aromatase excess syndrome 10.2 NR5A1 CYP19A1 CYP17A1
44 3-beta-hydroxysteroid dehydrogenase deficiency 10.2 HSD3B2 CYP21A2
45 gender identity disorder 10.2 CYP19A1 CYP17A1
46 gonadoblastoma 10.2 WT1 SOX9 NR5A1 NR0B1
47 synovial chondromatosis 10.2 SOX9 FGF9
48 46,xy partial gonadal dysgenesis 10.1 WT1 SOX9 NR5A1 NR0B1
49 dengue hemorrhagic fever 10.1
50 autoimmune hepatitis type 2 10.1 CYP21A2 CYP17A1 CYP11A1

Graphical network of the top 20 diseases related to 46,xy Sex Reversal 2:



Diseases related to 46,xy Sex Reversal 2

Symptoms & Phenotypes for 46,xy Sex Reversal 2

Human phenotypes related to 46,xy Sex Reversal 2:

31
# Description HPO Frequency HPO Source Accession
1 sex reversal 31 HP:0012245

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
G U:
male-to-female sex reversal

Lab:
normal 46,xy karyotype

Clinical features from OMIM®:

300018 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to 46,xy Sex Reversal 2 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.17 CYP11B1 CYP21A2 HSD3B2 MC2R NR0B1 NR5A2

MGI Mouse Phenotypes related to 46,xy Sex Reversal 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.27 CITED2 CYP11A1 CYP11B1 CYP17A1 CYP19A1 CYP21A2
2 endocrine/exocrine gland MP:0005379 10.25 CITED2 CYP11A1 CYP11B1 CYP19A1 FGF9 MC2R
3 homeostasis/metabolism MP:0005376 10.2 BLOC1S1 CITED2 CYP11A1 CYP11B1 CYP17A1 CYP19A1
4 cardiovascular system MP:0005385 10.17 CITED2 CYP11A1 CYP11B1 CYP17A1 CYP19A1 FGF9
5 mortality/aging MP:0010768 10.16 BLOC1S1 CITED2 CYP11A1 CYP11B1 CYP17A1 CYP21A2
6 normal MP:0002873 9.81 CITED2 CYP11A1 CYP19A1 FGF9 NR0B2 NR5A1
7 renal/urinary system MP:0005367 9.5 CITED2 CYP11B1 CYP19A1 FGF9 SOX9 WNT4
8 reproductive system MP:0005389 9.4 CYP11A1 CYP17A1 CYP19A1 FGF9 NR0B1 NR0B2

Drugs & Therapeutics for 46,xy Sex Reversal 2

Drugs for 46,xy Sex Reversal 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Testosterone Approved, Investigational Phase 3 58-22-0 6013
2
Methyltestosterone Approved Phase 3 58-18-4 6010
3
Testosterone undecanoate Approved, Investigational Phase 3 5949-44-0
4
Testosterone enanthate Approved Phase 3 315-37-7 9416
5 Hormone Antagonists Phase 3
6 Hormones Phase 3
7 Testosterone 17 beta-cypionate Phase 3
8 Androgens Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Testosterone Treatment in a Patient With 17β-hydroxysteroid Dehydrogenase Type 3 Deficiency: an N-of-1 Study Not yet recruiting NCT04831099 Phase 3 Testosterone gel;Placebo

Search NIH Clinical Center for 46,xy Sex Reversal 2

Cochrane evidence based reviews: disorder of sex development, 46,xy

Genetic Tests for 46,xy Sex Reversal 2

Genetic tests related to 46,xy Sex Reversal 2:

# Genetic test Affiliating Genes
1 46,xy Sex Reversal, Type 2 29 NR0B1
2 46xy Sex Reversal 2, Dosage-Sensitive 29

Anatomical Context for 46,xy Sex Reversal 2

MalaCards organs/tissues related to 46,xy Sex Reversal 2:

40
Liver, Breast, Prostate, Pituitary, Testis, Cortex, Hypothalamus

Publications for 46,xy Sex Reversal 2

Articles related to 46,xy Sex Reversal 2:

(show top 50) (show all 147)
# Title Authors PMID Year
1
Dax1 antagonizes Sry action in mammalian sex determination. 6 57 61
9486644 1998
2
A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal. 61 57
7951319 1994
3
Male-to-female sex reversal associated with an approximately 250 kb deletion upstream of NR0B1 (DAX1). 57
17503084 2007
4
Report of a kindred with X-linked (or autosomal dominant sex-limited) 46,XY partial gonadal dysgenesis. 57
8496317 1993
5
Genetically determined sex-reversal in 46,XY humans. 57
567843 1978
6
New perspectives on PPAR, VDR and FXRα as new actors in testicular pathophysiology. 61
32878696 2021
7
Delayed-onset adrenal hypoplasia congenita and hypogonadotropic hypogonadism caused by a novel mutation in DAX1. 61
31642359 2020
8
Late-onset vanishing testis-like syndrome in a 38,XX/38,XY agonadic pig (Sus scrofa). 61
31679558 2020
9
Developmental Programming: Prenatal Testosterone Excess on Ovarian SF1/DAX1/FOXO3. 61
32046386 2020
10
Novel mutations and spectrum of the disease of NR0B1 (DAX1)-related adrenal insufficiency in Indian children. 61
31219797 2019
11
Novel frameshift mutation of the NR0B1(DAX1) in two tall adult brothers. 61
31280422 2019
12
Gene dosage of DAX-1, determining in sexual differentiation: duplication of DAX-1 in two sisters with gonadal dysgenesis. 61
30879272 2019
13
Human fetal adrenal cells retain age-related stem- and endocrine-differentiation potential in culture. 61
30247985 2019
14
Next-Generation Sequencing Identifies Different Genetic Defects in 2 Patients with Primary Adrenal Insufficiency and Gonadotropin-Independent Precocious Puberty. 61
30179867 2018
15
Induced Pluripotent Stem Cells from a Marsupial, the Tasmanian Devil (Sarcophilus harrisii): Insight into the Evolution of Mammalian Pluripotency. 61
29161957 2018
16
Female-to-male sex reversal associated with unique Xp21.2 deletion disrupting genomic regulatory architecture of the dosage-sensitive sex reversal region. 61
28483799 2017
17
Clinical and molecular genetic analysis of a Chinese family with congenital X-linked adrenal hypoplasia caused by novel mutation 1268delA in the DAX-1 gene. 61
26537215 2015
18
Interleukin-6 inhibits adrenal androgen release from bovine adrenal zona reticularis cells by inhibiting the expression of steroidogenic proteins. 61
26218834 2015
19
TNF-α-mediated suppression of Leydig cell steroidogenesis involves DAX-1. 61
26047595 2015
20
Novel mutations of DAX1 (NR0B1) in two Chinese families with X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. 61
25968435 2015
21
Androgens inhibit aromatase expression through DAX-1: insights into the molecular link between hormone balance and Leydig cancer development. 61
25603045 2015
22
Dynamic pituitary-adrenal interactions in response to cardiac surgery. 61
25517478 2015
23
Gonadotropin-releasing hormone and gonadal steroids regulate transcription factor mRNA expression in primary pituitary and immortalized gonadotrope cells. 61
25563755 2015
24
Presence of 21-Hydroxylase Antibodies in a Boy with X-Linked Adrenal Hypoplasia Congenita. 61
26448365 2015
25
Orphan nuclear receptors as drug targets for the treatment of prostate and breast cancers. 61
25455729 2014
26
The signaling phospholipid PIP3 creates a new interaction surface on the nuclear receptor SF-1. 61
25288771 2014
27
microRNA-181 promotes prostate cancer cell proliferation by regulating DAX-1 expression. 61
25187843 2014
28
Are human male patients with DAX1/NR0B1 mutations infertile? 61
24751136 2014
29
A de novo mutation of DAX1 in a boy with congenital adrenal hypoplasia without hypogonadotropic hypogonadism. 61
24197767 2014
30
Expression of selected genes involved in steroidogenesis in the course of enucleation-induced rat adrenal regeneration. 61
24366092 2014
31
MicroRNA-561 promotes acetaminophen-induced hepatotoxicity in HepG2 cells and primary human hepatocytes through downregulation of the nuclear receptor corepressor dosage-sensitive sex-reversal adrenal hypoplasia congenital critical region on the X chromosome, gene 1 (DAX-1). 61
24104199 2014
32
DAX-1 inhibits hepatocellular carcinoma proliferation by inhibiting β-catenin transcriptional activity. 61
25171651 2014
33
Distinct nuclear receptor expression in stroma adjacent to breast tumors. 61
24122391 2013
34
Central precocious puberty in a patient with X-linked adrenal hypoplasia congenita and Xp21 contiguous gene deletion syndrome. 61
24904859 2013
35
Insulin directly regulates steroidogenesis via induction of the orphan nuclear receptor DAX-1 in testicular Leydig cells. 61
23589295 2013
36
Adrenal hypoplasia congenita presenting as congenital adrenal hyperplasia. 61
23476826 2013
37
Duplication of dosage sensitive sex reversal area in a 46, XY patient with normal sex determining region of Y causing complete sex reversal. 61
23612644 2013
38
Expression of aldosterone synthase and adrenocorticotropic hormone receptor in adrenal incidentalomas from normotensive and hypertensive patients: Distinguishing subclinical or atypical primary aldosteronism from adrenal incidentaloma. 61
23023242 2012
39
X-linked congenital adrenal hypoplasia associated with hypospadias in an Egyptian baby: a case report. 61
23272655 2012
40
Excess DAX1 leads to XY ovotesticular disorder of sex development (DSD) in mice by inhibiting steroidogenic factor-1 (SF1) activation of the testis enhancer of SRY-box-9 (Sox9). 61
22294746 2012
41
Role of SF-1 and DAX-1 during differentiation of P19 cells by retinoic acid. 61
21678401 2012
42
Characteristic induction of steroidogenic factor 1 (SF-1) and DAX-1 and enhanced expression of glucocorticoid synthesis-related genes in adrenals from spontaneously hypertensive rats. 61
22447829 2012
43
Acid ceramidase (ASAH1) is a global regulator of steroidogenic capacity and adrenocortical gene expression. 61
22261821 2012
44
DAX-1 and DAX-1A expression in human testicular tissues with primary spermatogenic failure. 61
21775412 2011
45
Aldosterone-producing adenoma formation in the adrenal cortex involves expression of stem/progenitor cell markers. 61
21971159 2011
46
Hypogonadotropic hypogonadism in subjects with DAX1 mutations. 61
21672607 2011
47
DAX1 suppresses FXR transactivity as a novel co-repressor. 61
21856289 2011
48
Evidence of adrenal failure in aging Dax1-deficient mice. 61
21733829 2011
49
GnRH pulse frequency differentially regulates steroidogenic factor 1 (SF1), dosage-sensitive sex reversal-AHC critical region on the X chromosome gene 1 (DAX1), and serum response factor (SRF): potential mechanism for GnRH pulse frequency regulation of LH beta transcription in the rat. 61
21409515 2011
50
Effects of apigenin on steroidogenesis and steroidogenic acute regulatory gene expression in mouse Leydig cells. 61
20537519 2011

Variations for 46,xy Sex Reversal 2

ClinVar genetic disease variations for 46,xy Sex Reversal 2:

6 (show all 16)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NR0B1 NR0B1, DUP Duplication Pathogenic 10962 GRCh37:
GRCh38:
2 NR0B1 NM_000475.5(NR0B1):c.901C>T (p.Gln301Ter) SNV Pathogenic 460312 rs1555973010 GRCh37: X:30326580-30326580
GRCh38: X:30308463-30308463
3 NR0B1 NM_000475.5(NR0B1):c.552del (p.Glu185fs) Deletion Pathogenic 460311 rs1555973115 GRCh37: X:30326929-30326929
GRCh38: X:30308812-30308812
4 NR0B1 NM_000475.5(NR0B1):c.528C>G (p.Tyr176Ter) SNV Pathogenic 579771 rs767828388 GRCh37: X:30326953-30326953
GRCh38: X:30308836-30308836
5 NR0B1 NM_000475.5(NR0B1):c.159dup (p.Leu54fs) Duplication Pathogenic 853827 GRCh37: X:30327321-30327322
GRCh38: X:30309204-30309205
6 NR0B1 NM_000475.5(NR0B1):c.708G>A (p.Trp236Ter) SNV Pathogenic 429744 rs1131691564 GRCh37: X:30326773-30326773
GRCh38: X:30308656-30308656
7 NR0B1 NM_000475.5(NR0B1):c.516G>A (p.Trp172Ter) SNV Pathogenic 460310 rs1555973131 GRCh37: X:30326965-30326965
GRCh38: X:30308848-30308848
8 NR0B1 NM_000475.5(NR0B1):c.1042del (p.Glu348fs) Deletion Pathogenic 836245 GRCh37: X:30326439-30326439
GRCh38: X:30308322-30308322
9 NR0B1 NM_000475.5(NR0B1):c.919G>T (p.Glu307Ter) SNV Pathogenic 590884 rs1324519932 GRCh37: X:30326562-30326562
GRCh38: X:30308445-30308445
10 NR0B1 NM_000475.5(NR0B1):c.155A>C (p.Glu52Ala) SNV Uncertain significance 854941 GRCh37: X:30327326-30327326
GRCh38: X:30309209-30309209
11 NR0B1 NM_000475.5(NR0B1):c.785T>G (p.Leu262Arg) SNV Uncertain significance 962235 GRCh37: X:30326696-30326696
GRCh38: X:30308579-30308579
12 NR0B1 NM_000475.5(NR0B1):c.1142T>C (p.Leu381Pro) SNV Uncertain significance 492856 rs104894899 GRCh37: X:30326339-30326339
GRCh38: X:30308222-30308222
13 NR0B1 NC_000023.11:g.(?_30304559)_(30309383_?)dup Duplication Uncertain significance 831352 GRCh37: X:30322676-30327500
GRCh38:
14 NR0B1 NM_000475.5(NR0B1):c.376G>A (p.Val126Met) SNV Benign 225425 rs193205940 GRCh37: X:30327105-30327105
GRCh38: X:30308988-30308988
15 NR0B1 NM_000475.5(NR0B1):c.1029G>A (p.Leu343=) SNV Benign 703336 rs112775648 GRCh37: X:30326452-30326452
GRCh38: X:30308335-30308335
16 NR0B1 NM_000475.5(NR0B1):c.379G>A (p.Ala127Thr) SNV Benign 766930 rs766116884 GRCh37: X:30327102-30327102
GRCh38: X:30308985-30308985

Expression for 46,xy Sex Reversal 2

Search GEO for disease gene expression data for 46,xy Sex Reversal 2.

Pathways for 46,xy Sex Reversal 2

Pathways related to 46,xy Sex Reversal 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.42 WNT4 STAR NR5A1 NR0B1 MC2R HSD3B2
2 12.25 STAR CYP19A1 CYP17A1 CYP11A1
3
Show member pathways
11.69 NR5A2 NR5A1 NR0B2 NR0B1
4 11.69 STAR HSD3B2 CYP21A2 CYP11B1 CYP11A1
5
Show member pathways
11.46 HSD3B2 CYP21A2 CYP19A1 CYP17A1 CYP11B1 CYP11A1
6
Show member pathways
11.4 HSD3B2 CYP19A1 CYP17A1 CYP11B1
7 11.36 STAR HSD3B2 CYP19A1 CYP17A1 CYP11A1
8
Show member pathways
11.07 STAR HSD3B2 CYP21A2 CYP19A1 CYP17A1 CYP11B1
9
Show member pathways
10.9 CYP21A2 CYP17A1 CYP11B1

GO Terms for 46,xy Sex Reversal 2

Cellular components related to 46,xy Sex Reversal 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 organelle membrane GO:0031090 9.33 CYP21A2 CYP19A1 CYP17A1
2 chromatin GO:0000785 9.17 WT1 SOX9 NR5A2 NR5A1 NR0B2 NR0B1
3 mitochondrial intermembrane space GO:0005758 9.13 STAR HSD3B2 BLOC1S1

Biological processes related to 46,xy Sex Reversal 2 according to GeneCards Suite gene sharing:

(show all 42)
# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 10.15 WNT4 SOX9 NR5A1 NR0B1 FGF9 CITED2
2 negative regulation of transcription by RNA polymerase II GO:0000122 10.14 WT1 SOX9 NR0B2 NR0B1 LCOR CITED2
3 oxidation-reduction process GO:0055114 10.12 HSD3B2 CYP21A2 CYP19A1 CYP17A1 CYP11B1 CYP11A1
4 negative regulation of transcription, DNA-templated GO:0045892 10.08 WT1 WNT4 SOX9 NR0B2 NR0B1 CITED2
5 positive regulation of transcription, DNA-templated GO:0045893 10.05 WT1 WNT4 SOX9 NR5A2 NR5A1 NR0B2
6 positive regulation of gene expression GO:0010628 10 WT1 STAR SOX9 NR5A1 NR0B2 FGF9
7 negative regulation of gene expression GO:0010629 9.98 WNT4 SOX9 NR0B2 CITED2
8 transcription initiation from RNA polymerase II promoter GO:0006367 9.89 SOX9 NR5A2 NR5A1 NR0B2 NR0B1
9 steroid metabolic process GO:0008202 9.86 CYP21A2 CYP17A1 CYP11A1
10 cholesterol metabolic process GO:0008203 9.86 STAR NR0B2 CYP11B1 CYP11A1
11 cellular response to transforming growth factor beta stimulus GO:0071560 9.8 WNT4 STAR SOX9
12 tissue development GO:0009888 9.77 WT1 NR5A2 NR5A1
13 branching involved in ureteric bud morphogenesis GO:0001658 9.77 WT1 WNT4 SOX9
14 sterol metabolic process GO:0016125 9.71 CYP21A2 CYP19A1 CYP11B1 CYP11A1
15 female gonad development GO:0008585 9.7 WNT4 NR5A1 CYP19A1
16 cellular response to peptide hormone stimulus GO:0071375 9.68 CYP11B1 CYP11A1
17 response to corticosterone GO:0051412 9.68 STAR HSD3B2
18 hormone metabolic process GO:0042445 9.67 WNT4 NR5A1
19 gonad development GO:0008406 9.67 WT1 NR0B1
20 estrogen biosynthetic process GO:0006703 9.67 STAR CYP19A1
21 positive regulation of male gonad development GO:2000020 9.67 WT1 SOX9 NR5A1 CITED2
22 regulation of steroid biosynthetic process GO:0050810 9.66 STAR NR5A1
23 androgen biosynthetic process GO:0006702 9.65 HSD3B2 CYP17A1
24 mesenchymal to epithelial transition GO:0060231 9.65 WT1 WNT4
25 cellular response to gonadotropin stimulus GO:0071371 9.65 WT1 STAR
26 C21-steroid hormone biosynthetic process GO:0006700 9.65 STAR CYP11B1 CYP11A1
27 adrenal gland development GO:0030325 9.65 WT1 WNT4 NR5A1 NR0B1 CITED2
28 calcineurin-mediated signaling GO:0097720 9.64 NR5A2 NR5A1
29 Sertoli cell differentiation GO:0060008 9.63 SOX9 NR0B1
30 C21-steroid hormone metabolic process GO:0008207 9.63 HSD3B2 CYP11A1
31 negative regulation of steroid biosynthetic process GO:0010894 9.62 WNT4 NR0B1
32 sex determination GO:0007530 9.62 WT1 NR5A1 NR0B1 CITED2
33 mineralocorticoid biosynthetic process GO:0006705 9.61 HSD3B2 CYP21A2
34 male sex determination GO:0030238 9.61 SOX9 NR5A1 NR0B1
35 negative regulation of female gonad development GO:2000195 9.58 WT1 NR5A1
36 renal vesicle induction GO:0072034 9.58 WNT4 SOX9
37 cortisol metabolic process GO:0034650 9.57 CYP11B1 CYP11A1
38 adrenal cortex formation GO:0035802 9.55 WT1 CITED2
39 glucocorticoid biosynthetic process GO:0006704 9.55 HSD3B2 CYP21A2 CYP17A1 CYP11B1 CYP11A1
40 regulation of animal organ formation GO:0003156 9.54 WT1 CITED2
41 steroid biosynthetic process GO:0006694 9.5 STAR HSD3B2 CYP21A2 CYP19A1 CYP17A1 CYP11B1
42 male gonad development GO:0008584 9.23 WT1 WNT4 STAR SOX9 NR5A1 NR0B1

Molecular functions related to 46,xy Sex Reversal 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.85 HSD3B2 CYP21A2 CYP19A1 CYP17A1 CYP11B1 CYP11A1
2 transcription corepressor activity GO:0003714 9.72 WNT4 NR0B2 NR0B1 LCOR CITED2
3 lipid binding GO:0008289 9.71 STAR NR5A2 NR5A1 CYP21A2
4 heme binding GO:0020037 9.65 CYP21A2 CYP19A1 CYP17A1 CYP11B1 CYP11A1
5 iron ion binding GO:0005506 9.55 CYP21A2 CYP19A1 CYP17A1 CYP11B1 CYP11A1
6 monooxygenase activity GO:0004497 9.35 CYP21A2 CYP19A1 CYP17A1 CYP11B1 CYP11A1
7 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 9.02 CYP21A2 CYP19A1 CYP17A1 CYP11B1 CYP11A1

Sources for 46,xy Sex Reversal 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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