SRXY2
MCID: 46X049
MIFTS: 49

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 56 12 73 15
Dosage-Sensitive Sex Reversal 56 12 52 73 71
46xy Sex Reversal 2, Dosage-Sensitive 56 12 29 13
Dss 56 12 52 73
46,xy Sex Reversal, Type 2 29 6 39
Srxy2 56 12 73
46,xy Sex Reversal, Dax1-Related 56 12
Dosage-Sensitive Sex Reversal; Dss 56
Disorder of Sex Development, 46,xy 43
46,xy Sex Reversal Dax1-Related 73

Characteristics:

OMIM:

56
Inheritance:
x-linked


HPO:

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


Classifications:



External Ids:

Disease Ontology 12 DOID:0111777
OMIM 56 300018
OMIM Phenotypic Series 56 PS400044
MeSH 43 D058490
MedGen 41 C1848296
SNOMED-CT via HPO 68 263934009
UMLS 71 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 hypospadias. 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. Affiliated tissues include liver, breast and prostate, and related phenotypes are sex reversal and Reduced mammosphere formation

UniProtKB/Swiss-Prot : 73 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 172)
# Related Disease Score Top Affiliating Genes
1 gonadal dysgenesis 30.0 WT1 SOX9 NR5A1 NR0B1 FGF9
2 hypospadias 29.8 WT1 SOX9 NR5A1 HSD3B2 CYP17A1 CYP11A1
3 adrenal hypoplasia, congenital 29.7 WNT4 STAR NR5A1 NR0B1 MC2R HSD3B2
4 hypoadrenocorticism, familial 29.2 STAR NR5A1 NR0B1 MC2R HSD3B2 CYP21A2
5 body mass index quantitative trait locus 11 29.0 STAR NR5A1 NR0B2 MC2R LCOR CYP21A2
6 disorders of sexual development 28.1 WT1 WNT4 STAR SOX9 NR5A1 NR0B1
7 46,xy sex reversal 26.4 WT1 WNT4 STAR SPNS1 SOX9 NR5A2
8 46,xy sex reversal 3 12.1
9 syndrome with 46,xy disorder of sex development 11.9
10 dengue disease 11.9
11 46,xy sex reversal 5 11.8
12 dengue shock syndrome 11.6
13 46,xy ovotesticular disorder of sex development 11.6
14 dengue virus 11.6
15 hypertrophic neuropathy of dejerine-sottas 11.6
16 neuropathy, congenital hypomyelinating, 1, autosomal recessive 11.5
17 neuropathy, congenital hypomyelinating, 2 11.4
18 colitis 11.2
19 charcot-marie-tooth disease, demyelinating, type 4f 11.2
20 inflammatory bowel disease 11.0
21 ulcerative colitis 11.0
22 colorectal cancer 10.5
23 autoimmune disease 10.5
24 diarrhea 10.5
25 microcystic stromal tumor 10.4 WT1 NR5A1
26 polyendocrinopathy 10.4 CYP17A1 CYP11A1
27 46,xx sex reversal 1 10.4 SOX9 NR5A1 NR0B1
28 45,x/46,xy mixed gonadal dysgenesis 10.4 WNT4 NR0B1
29 gonadoblastoma 10.4 WT1 SOX9 NR5A1
30 nonsyndromic disorders of testicular development 10.4 WNT4 NR5A1 NR0B1
31 hermaphroditism 10.4 WNT4 SOX9 NR0B1
32 ovarian sex-cord stromal tumor 10.4 WT1 NR5A1
33 mammographic density 10.3 CYP19A1 CYP17A1
34 primary adrenal insufficiency 10.3 NR0B1 CYP21A2
35 crohn's disease 10.3
36 acute adrenal insufficiency 10.3 CYP21A2 CYP11A1
37 46,xy sex reversal 9 10.3 WT1 SOX9 NR5A1
38 corticosteroid-binding globulin deficiency 10.3 STAR MC2R
39 frasier syndrome 10.3 WT1 SOX9 NR5A1
40 synovial chondromatosis 10.3 SOX9 FGF9
41 ovarian endometrioid stromal sarcoma 10.3 WT1 CYP19A1
42 cytochrome p450 oxidoreductase deficiency 10.3 CYP21A2 CYP17A1
43 sertoli cell tumor 10.3 WT1 NR5A1 CYP19A1
44 dengue hemorrhagic fever 10.3
45 adenocarcinoma 10.3
46 cytokine deficiency 10.3
47 46,xy partial gonadal dysgenesis 10.3 WT1 SOX9 NR5A1 NR0B1
48 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 10.2 NR5A1 NR0B1 MC2R CYP11A1
49 3-beta-hydroxysteroid dehydrogenase deficiency 10.2 HSD3B2 CYP21A2
50 acth-independent cushing syndrome 10.2 CYP21A2 CYP11B1

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:

56
G U:
male-to-female sex reversal

Lab:
normal 46,xy karyotype

Clinical features from OMIM:

300018

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.18 CYP11A1 CYP11B1 CYP19A1 FGF9 MC2R NR0B1
2 growth/size/body region MP:0005378 10.17 CYP11A1 CYP11B1 CYP17A1 CYP19A1 FGF9 MC2R
3 cardiovascular system MP:0005385 10.1 CYP11A1 CYP11B1 CYP17A1 CYP19A1 FGF9 MC2R
4 homeostasis/metabolism MP:0005376 10.1 BLOC1S1 CYP11A1 CYP11B1 CYP17A1 CYP19A1 FGF9
5 mortality/aging MP:0010768 10.06 BLOC1S1 CYP11A1 CYP11B1 CYP17A1 CYP21A2 FGF9
6 normal MP:0002873 9.56 CYP11A1 CYP19A1 FGF9 NR0B2 NR5A1 SOX9
7 reproductive system MP:0005389 9.4 CYP11A1 CYP17A1 CYP19A1 FGF9 NR0B1 NR0B2

Drugs & Therapeutics for 46,xy Sex Reversal 2

Search Clinical Trials , 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, B Cells, Cortex

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. 56 6 61
9486644 1998
2
A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal. 61 56
7951319 1994
3
Male-to-female sex reversal associated with an approximately 250 kb deletion upstream of NR0B1 (DAX1). 56
17503084 2007
4
Consensus statement on management of intersex disorders. 6
18947601 2006
5
Report of a kindred with X-linked (or autosomal dominant sex-limited) 46,XY partial gonadal dysgenesis. 56
8496317 1993
6
Genetically determined sex-reversal in 46,XY humans. 56
567843 1978
7
Late-onset vanishing testis-like syndrome in a 38,XX/38,XY agonadic pig (Sus scrofa). 61
31679558 2020
8
Developmental Programming: Prenatal Testosterone Excess on Ovarian SF1/DAX1/FOXO3. 61
32046386 2020
9
Delayed-onset adrenal hypoplasia congenita and hypogonadotropic hypogonadism caused by a novel mutation in DAX1. 61
31642359 2019
10
Novel frameshift mutation of the NR0B1(DAX1) in two tall adult brothers. 61
31280422 2019
11
Novel mutations and spectrum of the disease of NR0B1 (DAX1)-related adrenal insufficiency in Indian children. 61
31219797 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
Expression of selected genes involved in steroidogenesis in the course of enucleation-induced rat adrenal regeneration. 61
24366092 2014
30
A de novo mutation of DAX1 in a boy with congenital adrenal hypoplasia without hypogonadotropic hypogonadism. 61
24197767 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
Role of SF-1 and DAX-1 during differentiation of P19 cells by retinoic acid. 61
21678401 2012
41
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
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
Aldosterone-producing adenoma formation in the adrenal cortex involves expression of stem/progenitor cell markers. 61
21971159 2011
45
DAX-1 and DAX-1A expression in human testicular tissues with primary spermatogenic failure. 61
21775412 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 15) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NR0B1 NM_000475.5(NR0B1):c.708G>A (p.Trp236Ter)SNV Pathogenic 429744 rs1131691564 X:30326773-30326773 X:30308656-30308656
2 NR0B1 NM_000475.5(NR0B1):c.901C>T (p.Gln301Ter)SNV Pathogenic 460312 rs1555973010 X:30326580-30326580 X:30308463-30308463
3 NR0B1 NM_000475.5(NR0B1):c.516G>A (p.Trp172Ter)SNV Pathogenic 460310 rs1555973131 X:30326965-30326965 X:30308848-30308848
4 NR0B1 NM_000475.5(NR0B1):c.552del (p.Glu185fs)deletion Pathogenic 460311 rs1555973115 X:30326929-30326929 X:30308812-30308812
5 NR0B1 NM_000475.5(NR0B1):c.528C>G (p.Tyr176Ter)SNV Pathogenic 579771 rs767828388 X:30326953-30326953 X:30308836-30308836
6 NR0B1 NM_000475.5(NR0B1):c.919G>T (p.Glu307Ter)SNV Pathogenic 590884 rs1324519932 X:30326562-30326562 X:30308445-30308445
7 NR0B1 NM_000475.5(NR0B1):c.1042del (p.Glu348fs)deletion Pathogenic 836245 X:30326439-30326439 X:30308322-30308322
8 NR0B1 NM_000475.5(NR0B1):c.159dup (p.Leu54fs)duplication Pathogenic 853827 X:30327321-30327322 X:30309204-30309205
9 NR0B1 NR0B1, DUPduplication Pathogenic 10962
10 NR0B1 NM_000475.5(NR0B1):c.376G>A (p.Val126Met)SNV Conflicting interpretations of pathogenicity 225425 rs193205940 X:30327105-30327105 X:30308988-30308988
11 NR0B1 NM_000475.5(NR0B1):c.155A>C (p.Glu52Ala)SNV Uncertain significance 854941 X:30327326-30327326 X:30309209-30309209
12 NR0B1 NC_000023.11:g.(?_30304559)_(30309383_?)dupduplication Uncertain significance 831352 X:30322676-30327500
13 NR0B1 NM_000475.5(NR0B1):c.1142T>C (p.Leu381Pro)SNV Uncertain significance 492856 rs104894899 X:30326339-30326339 X:30308222-30308222
14 NR0B1 NM_000475.5(NR0B1):c.1029G>A (p.Leu343=)SNV Benign 703336 X:30326452-30326452 X:30308335-30308335
15 NR0B1 NM_000475.5(NR0B1):c.379G>A (p.Ala127Thr)SNV Benign 766930 X:30327102-30327102 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 11.69 STAR HSD3B2 CYP21A2 CYP11B1 CYP11A1
4
Show member pathways
11.66 NR5A2 NR5A1 NR0B2 NR0B1
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
11.11 STAR HSD3B2 CYP21A2 CYP19A1 CYP17A1 CYP11B1
9
Show member pathways
10.95 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 mitochondrion GO:0005739 9.87 STAR SPNS1 MRPL58 HSD3B2 CYP11B1 CYP11A1
2 organelle membrane GO:0031090 9.43 CYP21A2 CYP19A1 CYP17A1
3 mitochondrial inner membrane GO:0005743 9.35 SPNS1 MRPL58 HSD3B2 CYP11B1 CYP11A1
4 mitochondrial intermembrane space GO:0005758 9.33 STAR HSD3B2 BLOC1S1
5 host cell nucleus GO:0042025 8.92 NR5A2 NR5A1 NR0B2 NR0B1

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

(show all 40)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 10.1 HSD3B2 CYP21A2 CYP19A1 CYP17A1 CYP11B1 CYP11A1
2 positive regulation of transcription, DNA-templated GO:0045893 10.07 WT1 WNT4 SOX9 NR5A2 NR5A1
3 negative regulation of transcription, DNA-templated GO:0045892 10.06 WT1 WNT4 SOX9 NR0B2 NR0B1
4 positive regulation of gene expression GO:0010628 10.01 WT1 STAR SOX9 NR5A1 NR0B2 FGF9
5 transcription initiation from RNA polymerase II promoter GO:0006367 9.89 SOX9 NR5A2 NR5A1 NR0B2 NR0B1
6 steroid metabolic process GO:0008202 9.85 CYP21A2 CYP17A1 CYP11A1
7 cholesterol metabolic process GO:0008203 9.83 STAR NR0B2 CYP11B1 CYP11A1
8 cellular response to transforming growth factor beta stimulus GO:0071560 9.8 WNT4 STAR SOX9
9 tissue development GO:0009888 9.77 WT1 NR5A2 NR5A1
10 branching involved in ureteric bud morphogenesis GO:0001658 9.77 WT1 WNT4 SOX9
11 steroid hormone mediated signaling pathway GO:0043401 9.76 NR5A2 NR5A1 NR0B2 NR0B1
12 intracellular receptor signaling pathway GO:0030522 9.75 NR5A2 NR5A1 NR0B1
13 male gonad development GO:0008584 9.7 WT1 WNT4 STAR SOX9 NR5A1 NR0B1
14 female gonad development GO:0008585 9.69 WNT4 NR5A1 CYP19A1
15 sex differentiation GO:0007548 9.68 WNT4 CYP17A1
16 cellular response to peptide hormone stimulus GO:0071375 9.68 CYP11B1 CYP11A1
17 response to corticosterone GO:0051412 9.67 STAR HSD3B2
18 sterol metabolic process GO:0016125 9.67 CYP21A2 CYP19A1 CYP11B1 CYP11A1
19 hormone metabolic process GO:0042445 9.66 WNT4 NR5A1
20 gonad development GO:0008406 9.66 WT1 NR0B1
21 estrogen biosynthetic process GO:0006703 9.65 STAR CYP19A1
22 C21-steroid hormone metabolic process GO:0008207 9.65 HSD3B2 CYP11A1
23 androgen biosynthetic process GO:0006702 9.65 HSD3B2 CYP17A1
24 C21-steroid hormone biosynthetic process GO:0006700 9.65 STAR CYP11B1 CYP11A1
25 mesenchymal to epithelial transition GO:0060231 9.64 WT1 WNT4
26 regulation of steroid biosynthetic process GO:0050810 9.64 STAR NR5A1
27 cellular response to gonadotropin stimulus GO:0071371 9.63 WT1 STAR
28 calcineurin-mediated signaling GO:0097720 9.62 NR5A2 NR5A1
29 adrenal gland development GO:0030325 9.62 WT1 WNT4 NR5A1 NR0B1
30 Sertoli cell differentiation GO:0060008 9.61 SOX9 NR0B1
31 testosterone biosynthetic process GO:0061370 9.61 STAR CYP19A1
32 positive regulation of male gonad development GO:2000020 9.61 WT1 SOX9 NR5A1
33 mineralocorticoid biosynthetic process GO:0006705 9.58 HSD3B2 CYP21A2
34 sex determination GO:0007530 9.58 WT1 NR5A1 NR0B1
35 negative regulation of female gonad development GO:2000195 9.57 WT1 NR5A1
36 renal vesicle induction GO:0072034 9.56 WNT4 SOX9
37 male sex determination GO:0030238 9.56 SOX9 NR5A1 NR0B1 FGF9
38 cortisol metabolic process GO:0034650 9.55 CYP11B1 CYP11A1
39 glucocorticoid biosynthetic process GO:0006704 9.35 HSD3B2 CYP21A2 CYP17A1 CYP11B1 CYP11A1
40 steroid biosynthetic process GO:0006694 9.23 STAR NR0B1 HSD3B2 CYP21A2 CYP19A1 CYP17A1

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

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.91 WT1 SOX9 NR5A2 NR5A1 NR0B2 NR0B1
2 oxidoreductase activity GO:0016491 9.88 HSD3B2 CYP21A2 CYP19A1 CYP17A1 CYP11B1 CYP11A1
3 lipid binding GO:0008289 9.78 STAR NR5A2 NR5A1 CYP21A2
4 transcription regulatory region sequence-specific DNA binding GO:0000976 9.76 WT1 SOX9 NR5A2 NR5A1
5 heme binding GO:0020037 9.65 CYP21A2 CYP19A1 CYP17A1 CYP11B1 CYP11A1
6 steroid hormone receptor activity GO:0003707 9.62 NR5A2 NR5A1 NR0B2 NR0B1
7 nuclear receptor activity GO:0004879 9.61 NR5A2 NR5A1 NR0B1
8 iron ion binding GO:0005506 9.55 CYP21A2 CYP19A1 CYP17A1 CYP11B1 CYP11A1
9 monooxygenase activity GO:0004497 9.35 CYP21A2 CYP19A1 CYP17A1 CYP11B1 CYP11A1
10 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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