SRXY9
MCID: 46X030
MIFTS: 44

46,xy Sex Reversal 9 (SRXY9)

Categories: Bone diseases, Cancer diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases
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Aliases & Classifications for 46,xy Sex Reversal 9

MalaCards integrated aliases for 46,xy Sex Reversal 9:

Name: 46,xy Sex Reversal 9 57 11 73 28 5 14 71
46,xy Sex Reversal, Zfpm2-Related 57 11 73
Srxy9 57 11 73
46xy Sex Reversal 9 57

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
only 46,xy individuals are affected
based on report of 2 probands (last curated october 2014)


Classifications:



External Ids:

Disease Ontology 11 DOID:0111770
OMIM® 57 616067
OMIM Phenotypic Series 57 PS400044
MeSH 43 D006061
UMLS 71 C4015129

Summaries for 46,xy Sex Reversal 9

Disease Ontology: 11 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 heterozygous mutation in ZFPM2 on chromosome 8q23.1.

MalaCards based summary: 46,xy Sex Reversal 9, also known as 46,xy sex reversal, zfpm2-related, is related to diaphragmatic hernia 3 and testicular thecoma. An important gene associated with 46,xy Sex Reversal 9 is ZFPM2 (Zinc Finger Protein, FOG Family Member 2), and among its related pathways/superpathways are Nervous system development and Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers. Affiliated tissues include uterus, testis and ovary, and related phenotypes are autistic behavior and ambiguous genitalia

UniProtKB/Swiss-Prot: 73 A disorder of sex development. Affected individuals have a 46,XY karyotype but present as phenotypically normal females or have ambiguous external genitalia.

More information from OMIM: 616067 PS400044

Related Diseases for 46,xy Sex Reversal 9

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 9 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 63)
# Related Disease Score Top Affiliating Genes
1 diaphragmatic hernia 3 10.3 ZFPM2-AS1 ZFPM2
2 testicular thecoma 10.2 ZFPM2 GATA4
3 46,xy sex reversal 3 10.2 NR5A1 GATA4
4 diaphragmatic eventration 10.2 ZFPM2 GATA4
5 tricuspid atresia 10.2 ZFPM2 GATA4
6 double outlet right ventricle 10.1 ZFPM2-AS1 ZFPM2 GATA4
7 leydig cell hypoplasia 10.1 NR5A1 AMH
8 patent ductus arteriosus 1 10.0 ZFPM2 SMAD9 GATA4
9 spermatogenic failure 8 10.0 NR5A1 AR
10 atrial heart septal defect 10.0 ZFPM2 SMAD9 GATA4
11 steroid inherited metabolic disorder 10.0 NR5A1 AMH
12 blepharophimosis, ptosis, and epicanthus inversus 10.0 NR5A1 AMH
13 gender incongruence 10.0 AR AMH
14 ebstein anomaly 10.0 ZFPM2 GATA4
15 46,xx sex reversal 1 9.9 SOX9 NR5A1
16 genetic non-acquired premature ovarian failure 9.9 NR5A1 AMH
17 testicular fibroma 9.9 WT1 NR5A1
18 testicular granulosa cell tumor 9.9 WT1 AMH
19 ovarian sex-cord stromal tumor 9.9 WT1 NR5A1
20 campomelic dysplasia 9.9 SOX9 NR5A1 GATA4
21 testicular gonadoblastoma 9.9 WT1 AMH
22 androgen insensitivity, partial 9.9 NR5A1 AR AMH
23 45,x/46,xy mixed gonadal dysgenesis 9.9 ZFPM2 NR5A1 GATA4 AMH
24 complete androgen insensitivity syndrome 9.9 NR5A1 AR AMH
25 androgen insensitivity syndrome 9.9 NR5A1 AR AMH
26 ovarian large-cell neuroendocrine carcinoma 9.9 WT1 AMH
27 ovarian serous cystadenofibroma 9.8 WT1 AMH
28 diaphragm disease 9.8 ZFPM2 WT1 GATA4
29 prostate leiomyoma 9.8 WT1 AR
30 mixed gonadal dysgenesis 9.8 SOX9 NR5A1 AMH
31 lipoid congenital adrenal hyperplasia 9.8 NR5A1 AR AMH
32 ovarian benign neoplasm 9.8 WT1 AMH
33 ovarian germ cell cancer 9.8 WT1 AMH
34 diaphragmatic hernia, congenital 9.8 ZFPM2 WT1 GATA4
35 adrenal cortical carcinoma 9.8 SDHB NR5A1 GATA4
36 ovarian gonadoblastoma 9.8 WT1 SOX9
37 kidney benign neoplasm 9.7 WT1 SDHB
38 juvenile type testicular granulosa cell tumor 9.7 WT1 NR5A1 AMH
39 sex cord-gonadal stromal tumor 9.7 WT1 NR5A1 AMH
40 hermaphroditism 9.7 ZFPM2 SOX9 NR5A1 AMH
41 pancreatic agenesis 9.7 SOX9 GATA4
42 sertoli cell tumor 9.7 WT1 NR5A1 AR
43 mayer-rokitansky-kuster-hauser syndrome 9.7 WT1 AMH
44 46,xy sex reversal 2 9.6 WT1 SOX9 NR5A1
45 frasier syndrome 9.6 WT1 SOX9 NR5A1
46 tetralogy of fallot 9.6 ZFPM2-AS1 ZFPM2 SOX9 SMAD9 GATA4
47 17-beta hydroxysteroid dehydrogenase iii deficiency 9.6 SOX9 NR5A1 AR AMH
48 hypogonadotropic hypogonadism 9.5 SOX9 NR5A1 AR AMH
49 wilms tumor 1 9.5 WT1 SOX9 NR5A1 GATA4
50 46,xx sex reversal 9.4 WT1 SOX9 NR5A1 AMH

Graphical network of the top 20 diseases related to 46,xy Sex Reversal 9:



Diseases related to 46,xy Sex Reversal 9

Symptoms & Phenotypes for 46,xy Sex Reversal 9

Human phenotypes related to 46,xy Sex Reversal 9:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 autistic behavior 30 Occasional (7.5%) HP:0000729
2 ambiguous genitalia 30 HP:0000062
3 gonadal dysgenesis 30 HP:0000133
4 sex reversal 30 HP:0012245
5 fused labia minora 30 HP:0000063

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Genitourinary External Genitalia Female:
fused labia minora
hypertrophic labia majora

Neurologic Behavioral Psychiatric Manifestations:
autism spectrum disorder (in some patients)

Genitourinary Internal Genitalia Female:
rudimentary vaginal cavity may be present
rudimentary uterus may be present

Neurologic Central Nervous System:
learning and language difficulties (in some patients)
subtentorial ventricular dilation (in some patients)

Genitourinary External Genitalia Male:
ambiguous external genitalia
genital tubercle present at birth
striated genital folds

Genitourinary Internal Genitalia Male:
partial or complete gonadal dysgenesis
absence of germ cells on histology

Skeletal Hands:
bilateral fifth-finger clinodactyly (in some patients)

Clinical features from OMIM®:

616067 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to 46,xy Sex Reversal 9:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 normal MP:0002873 10.09 AR GATA2 GATA4 NR5A1 SDHB SMAD9
2 endocrine/exocrine gland MP:0005379 10.02 AMH AR GATA2 GATA4 NR5A1 SDHB
3 no phenotypic analysis MP:0003012 9.95 AMH GATA4 SDHB SMAD9 SOX9 WT1
4 muscle MP:0005369 9.91 AR CTBP2 GATA4 SMAD9 SOX9 WT1
5 embryo MP:0005380 9.86 AR CTBP2 GATA2 GATA4 NR5A1 SMAD9
6 neoplasm MP:0002006 9.85 AMH AR SDHB SMAD9 WT1
7 cardiovascular system MP:0005385 9.81 AR CTBP2 GATA2 GATA4 NR5A1 SMAD9
8 reproductive system MP:0005389 9.61 AMH AR GATA2 GATA4 NR5A1 SMAD9
9 mortality/aging MP:0010768 9.32 AR CTBP2 GATA2 GATA4 NR5A1 SDHB

Drugs & Therapeutics for 46,xy Sex Reversal 9

Search Clinical Trials, NIH Clinical Center for 46,xy Sex Reversal 9

Genetic Tests for 46,xy Sex Reversal 9

Genetic tests related to 46,xy Sex Reversal 9:

# Genetic test Affiliating Genes
1 46,xy Sex Reversal 9 28 ZFPM2

Anatomical Context for 46,xy Sex Reversal 9

Organs/tissues related to 46,xy Sex Reversal 9:

MalaCards : Uterus, Testis, Ovary
ODiseA: Testis, Ovary

Publications for 46,xy Sex Reversal 9

Articles related to 46,xy Sex Reversal 9:

# Title Authors PMID Year
1
Mutations in the FOG2/ZFPM2 gene are associated with anomalies of human testis determination. 57 5
24549039 2014
2
Phenotype-driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders. 5
34008892 2021
3
New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle. 5
20807224 2011

Variations for 46,xy Sex Reversal 9

ClinVar genetic disease variations for 46,xy Sex Reversal 9:

5 (show top 50) (show all 132)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ZFPM2-AS1, ZFPM2 NM_012082.4(ZFPM2):c.1206T>A (p.Ser402Arg) SNV Pathogenic
156583 rs606231252 GRCh37: 8:106813516-106813516
GRCh38: 8:105801288-105801288
2 ZFPM2-AS1, ZFPM2 NM_012082.4(ZFPM2):c.779G>A (p.Arg260Gln) SNV Pathogenic
156584 rs200834568 GRCh37: 8:106810991-106810991
GRCh38: 8:105798763-105798763
3 ZFPM2-AS1, ZFPM2 NM_012082.4(ZFPM2):c.931C>T (p.Arg311Ter) SNV Pathogenic
1451277 GRCh37: 8:106811143-106811143
GRCh38: 8:105798915-105798915
4 ZFPM2 NM_012082.4(ZFPM2):c.192T>G (p.Cys64Trp) SNV Likely Pathogenic
1299632 GRCh37: 8:106431523-106431523
GRCh38: 8:105419295-105419295
5 ZFPM2 NM_012082.4(ZFPM2):c.421-10C>A SNV Uncertain Significance
1371484 GRCh37: 8:106646464-106646464
GRCh38: 8:105634236-105634236
6 ZFPM2-AS1, ZFPM2 NM_012082.4(ZFPM2):c.1639G>A (p.Gly547Arg) SNV Uncertain Significance
1416462 GRCh37: 8:106813949-106813949
GRCh38: 8:105801721-105801721
7 ZFPM2 NM_012082.4(ZFPM2):c.444G>C (p.Met148Ile) SNV Uncertain Significance
477992 rs373855468 GRCh37: 8:106646497-106646497
GRCh38: 8:105634269-105634269
8 ZFPM2-AS1, ZFPM2 NM_012082.4(ZFPM2):c.2651G>A (p.Arg884His) SNV Uncertain Significance
578695 rs747995106 GRCh37: 8:106814961-106814961
GRCh38: 8:105802733-105802733
9 ZFPM2-AS1, ZFPM2 NM_012082.4(ZFPM2):c.1318A>G (p.Lys440Glu) SNV Uncertain Significance
560631 rs200311467 GRCh37: 8:106813628-106813628
GRCh38: 8:105801400-105801400
10 ZFPM2-AS1, ZFPM2 NM_012082.4(ZFPM2):c.2206C>T (p.Arg736Cys) SNV Uncertain Significance
648901 rs371546027 GRCh37: 8:106814516-106814516
GRCh38: 8:105802288-105802288
11 ZFPM2 NM_012082.4(ZFPM2):c.463A>G (p.Lys155Glu) SNV Uncertain Significance
942265 rs200671886 GRCh37: 8:106646516-106646516
GRCh38: 8:105634288-105634288
12 ZFPM2 NM_012082.4(ZFPM2):c.364G>T (p.Val122Leu) SNV Uncertain Significance
477991 rs772114579 GRCh37: 8:106573653-106573653
GRCh38: 8:105561425-105561425
13 ZFPM2-AS1, ZFPM2 NM_012082.4(ZFPM2):c.3334A>G (p.Ser1112Gly) SNV Uncertain Significance
477990 rs1554583419 GRCh37: 8:106815644-106815644
GRCh38: 8:105803416-105803416
14 ZFPM2-AS1, ZFPM2 NM_012082.4(ZFPM2):c.2096A>C (p.His699Pro) SNV Uncertain Significance
240842 rs368486644 GRCh37: 8:106814406-106814406
GRCh38: 8:105802178-105802178
15 ZFPM2-AS1, ZFPM2 NM_012082.4(ZFPM2):c.3294G>C (p.Glu1098Asp) SNV Uncertain Significance
406537 rs149688628 GRCh37: 8:106815604-106815604
GRCh38: 8:105803376-105803376
16 ZFPM2-AS1, ZFPM2 NM_012082.4(ZFPM2):c.2146C>T (p.Pro716Ser) SNV Uncertain Significance
477988 rs1554583195 GRCh37: 8:106814456-106814456
GRCh38: 8:105802228-105802228
17 ZFPM2-AS1, ZFPM2 NM_012082.4(ZFPM2):c.3086A>T (p.Lys1029Ile) SNV Uncertain Significance
544220 rs201729935 GRCh37: 8:106815396-106815396
GRCh38: 8:105803168-105803168
18 ZFPM2-AS1, ZFPM2 NM_012082.4(ZFPM2):c.2384T>C (p.Val795Ala) SNV Uncertain Significance
578784 rs1563574497 GRCh37: 8:106814694-106814694
GRCh38: 8:105802466-105802466
19 ZFPM2-AS1, ZFPM2 NM_012082.4(ZFPM2):c.2969G>A (p.Ser990Asn) SNV Uncertain Significance
638874 rs201707218 GRCh37: 8:106815279-106815279
GRCh38: 8:105803051-105803051
20 ZFPM2-AS1, ZFPM2 NM_012082.4(ZFPM2):c.1889C>T (p.Thr630Ile) SNV Uncertain Significance
644327 rs756076552 GRCh37: 8:106814199-106814199
GRCh38: 8:105801971-105801971
21 ZFPM2-AS1, ZFPM2 NM_012082.4(ZFPM2):c.1274A>T (p.Lys425Met) SNV Uncertain Significance
644422 rs771923819 GRCh37: 8:106813584-106813584
GRCh38: 8:105801356-105801356
22 ZFPM2-AS1, ZFPM2 NM_012082.4(ZFPM2):c.2300A>G (p.Asn767Ser) SNV Uncertain Significance
647578 rs374095734 GRCh37: 8:106814610-106814610
GRCh38: 8:105802382-105802382
23 ZFPM2-AS1, ZFPM2 NM_012082.4(ZFPM2):c.1210A>C (p.Thr404Pro) SNV Uncertain Significance
660176 rs1586283411 GRCh37: 8:106813520-106813520
GRCh38: 8:105801292-105801292
24 ZFPM2-AS1, ZFPM2 NM_012082.4(ZFPM2):c.1436T>C (p.Leu479Pro) SNV Uncertain Significance
660458 rs1586283783 GRCh37: 8:106813746-106813746
GRCh38: 8:105801518-105801518
25 ZFPM2-AS1, ZFPM2 NM_012082.4(ZFPM2):c.617T>C (p.Leu206Pro) SNV Uncertain Significance
857370 rs368572530 GRCh37: 8:106801030-106801030
GRCh38: 8:105788802-105788802
26 ZFPM2-AS1, ZFPM2 NM_012082.4(ZFPM2):c.2930G>A (p.Gly977Glu) SNV Uncertain Significance
864127 rs759084301 GRCh37: 8:106815240-106815240
GRCh38: 8:105803012-105803012
27 ZFPM2-AS1, ZFPM2 NM_012082.4(ZFPM2):c.2935G>A (p.Asp979Asn) SNV Uncertain Significance
944916 rs201644250 GRCh37: 8:106815245-106815245
GRCh38: 8:105803017-105803017
28 ZFPM2-AS1, ZFPM2 NM_012082.4(ZFPM2):c.2650C>T (p.Arg884Cys) SNV Uncertain Significance
953486 rs778808844 GRCh37: 8:106814960-106814960
GRCh38: 8:105802732-105802732
29 ZFPM2-AS1, ZFPM2 NM_012082.4(ZFPM2):c.2119C>G (p.Gln707Glu) SNV Uncertain Significance
964519 rs765282505 GRCh37: 8:106814429-106814429
GRCh38: 8:105802201-105802201
30 ZFPM2-AS1, ZFPM2 NM_012082.4(ZFPM2):c.2983G>A (p.Gly995Ser) SNV Uncertain Significance
968743 rs779361639 GRCh37: 8:106815293-106815293
GRCh38: 8:105803065-105803065
31 ZFPM2-AS1, ZFPM2 NM_012082.4(ZFPM2):c.664C>T (p.Arg222Cys) SNV Uncertain Significance
1008833 rs373471482 GRCh37: 8:106801077-106801077
GRCh38: 8:105788849-105788849
32 ZFPM2-AS1, ZFPM2 NM_012082.4(ZFPM2):c.2903A>G (p.Tyr968Cys) SNV Uncertain Significance
1018642 rs908430101 GRCh37: 8:106815213-106815213
GRCh38: 8:105802985-105802985
33 ZFPM2-AS1, ZFPM2 NM_012082.4(ZFPM2):c.2593A>G (p.Lys865Glu) SNV Uncertain Significance
1025375 rs367893066 GRCh37: 8:106814903-106814903
GRCh38: 8:105802675-105802675
34 ZFPM2-AS1, ZFPM2 NM_012082.4(ZFPM2):c.2633C>T (p.Pro878Leu) SNV Uncertain Significance
1025608 rs753602172 GRCh37: 8:106814943-106814943
GRCh38: 8:105802715-105802715
35 ZFPM2-AS1, ZFPM2 NM_012082.4(ZFPM2):c.1866A>G (p.Gln622=) SNV Uncertain Significance
1040149 rs536037180 GRCh37: 8:106814176-106814176
GRCh38: 8:105801948-105801948
36 ZFPM2-AS1, ZFPM2 NM_012082.4(ZFPM2):c.3161C>T (p.Pro1054Leu) SNV Uncertain Significance
1040935 rs1814096724 GRCh37: 8:106815471-106815471
GRCh38: 8:105803243-105803243
37 ZFPM2-AS1, ZFPM2 NM_012082.4(ZFPM2):c.1721G>A (p.Arg574Gln) SNV Uncertain Significance
1046639 rs773843701 GRCh37: 8:106814031-106814031
GRCh38: 8:105801803-105801803
38 ZFPM2-AS1, ZFPM2 NM_012082.4(ZFPM2):c.2230A>T (p.Met744Leu) SNV Uncertain Significance
1055629 GRCh37: 8:106814540-106814540
GRCh38: 8:105802312-105802312
39 ZFPM2 NM_012082.4(ZFPM2):c.74A>G (p.Glu25Gly) SNV Uncertain Significance
1058526 GRCh37: 8:106431405-106431405
GRCh38: 8:105419177-105419177
40 ZFPM2 NM_012082.4(ZFPM2):c.121C>G (p.Pro41Ala) SNV Uncertain Significance
1061068 GRCh37: 8:106431452-106431452
GRCh38: 8:105419224-105419224
41 ZFPM2-AS1, ZFPM2 NM_012082.4(ZFPM2):c.2295C>A (p.Asn765Lys) SNV Uncertain Significance
1061567 GRCh37: 8:106814605-106814605
GRCh38: 8:105802377-105802377
42 ZFPM2-AS1, ZFPM2 NM_012082.4(ZFPM2):c.2534C>T (p.Thr845Met) SNV Uncertain Significance
1463649 GRCh37: 8:106814844-106814844
GRCh38: 8:105802616-105802616
43 ZFPM2-AS1, ZFPM2 NM_012082.4(ZFPM2):c.1693G>T (p.Val565Leu) SNV Uncertain Significance
1448705 GRCh37: 8:106814003-106814003
GRCh38: 8:105801775-105801775
44 ZFPM2-AS1, ZFPM2 NM_012082.4(ZFPM2):c.2759G>A (p.Gly920Glu) SNV Uncertain Significance
1349234 GRCh37: 8:106815069-106815069
GRCh38: 8:105802841-105802841
45 ZFPM2-AS1, ZFPM2 NM_012082.4(ZFPM2):c.2393A>G (p.His798Arg) SNV Uncertain Significance
1407804 GRCh37: 8:106814703-106814703
GRCh38: 8:105802475-105802475
46 ZFPM2-AS1, ZFPM2 NM_012082.4(ZFPM2):c.2545A>G (p.Arg849Gly) SNV Uncertain Significance
1398967 GRCh37: 8:106814855-106814855
GRCh38: 8:105802627-105802627
47 ZFPM2-AS1, ZFPM2 NM_012082.4(ZFPM2):c.593T>C (p.Phe198Ser) SNV Uncertain Significance
1429169 GRCh37: 8:106801006-106801006
GRCh38: 8:105788778-105788778
48 ZFPM2-AS1, ZFPM2 NM_012082.4(ZFPM2):c.2762A>G (p.Asn921Ser) SNV Uncertain Significance
1428059 GRCh37: 8:106815072-106815072
GRCh38: 8:105802844-105802844
49 ZFPM2 NM_012082.4(ZFPM2):c.322A>G (p.Lys108Glu) SNV Uncertain Significance
1474338 GRCh37: 8:106573611-106573611
GRCh38: 8:105561383-105561383
50 ZFPM2-AS1, ZFPM2 NM_012082.4(ZFPM2):c.760T>G (p.Ser254Ala) SNV Uncertain Significance
1494404 GRCh37: 8:106810972-106810972
GRCh38: 8:105798744-105798744

UniProtKB/Swiss-Prot genetic disease variations for 46,xy Sex Reversal 9:

73
# Symbol AA change Variation ID SNP ID
1 ZFPM2 p.Arg260Gln VAR_071104 rs200834568
2 ZFPM2 p.Ser402Arg VAR_071105 rs606231252
3 ZFPM2 p.Met544Ile VAR_072075 rs187043152

Expression for 46,xy Sex Reversal 9

Search GEO for disease gene expression data for 46,xy Sex Reversal 9.

Pathways for 46,xy Sex Reversal 9

GO Terms for 46,xy Sex Reversal 9

Cellular components related to 46,xy Sex Reversal 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin GO:0000785 9.4 ZFPM2 SOX9 SMAD9 NR5A1 GATA4 AR

Biological processes related to 46,xy Sex Reversal 9 according to GeneCards Suite gene sharing:

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 10.37 ZFPM2 WT1 SOX9 GATA4 GATA2 CTBP2
2 positive regulation of transcription by RNA polymerase II GO:0045944 10.34 AR CTBP2 GATA2 GATA4 NR5A1 SOX9
3 positive regulation of DNA-templated transcription GO:0045893 10.27 AR GATA4 NR5A1 SOX9 WT1 ZFPM2
4 regulation of transcription by RNA polymerase II GO:0006357 10.25 AR CTBP2 GATA2 GATA4 NR5A1 SMAD9
5 positive regulation of gene expression GO:0010628 10.23 WT1 SOX9 NR5A1 GATA2 AR AMH
6 regulation of DNA-templated transcription GO:0006355 10.21 WT1 SOX9 SMAD9 NR5A1 GATA4 GATA2
7 heart development GO:0007507 10.16 ZFPM2 WT1 SOX9 GATA4
8 cell differentiation GO:0030154 10.13 ZFPM2 SOX9 SMAD9 GATA4 GATA2 CTBP2
9 cell fate commitment GO:0045165 9.99 SOX9 GATA4 GATA2
10 positive regulation of miRNA transcription GO:1902895 9.97 WT1 GATA2 AR
11 urogenital system development GO:0001655 9.93 GATA2 AMH
12 anatomical structure morphogenesis GO:0009653 9.93 GATA2 GATA4 SMAD9 ZFPM2
13 intestinal epithelial cell differentiation GO:0060575 9.92 SOX9 GATA4
14 tissue development GO:0009888 9.91 WT1 NR5A1 GATA4
15 gonadal mesoderm development GO:0007506 9.9 AMH ZFPM2
16 Sertoli cell differentiation GO:0060008 9.88 SOX9 NR5A1
17 Leydig cell differentiation GO:0033327 9.85 NR5A1 AR AMH
18 male gonad development GO:0008584 9.85 WT1 SOX9 NR5A1 GATA4 AR
19 gonad development GO:0008406 9.8 WT1 AMH
20 male sex determination GO:0030238 9.8 SOX9 NR5A1
21 glandular epithelial cell differentiation GO:0002067 9.78 GATA2 SOX9
22 sex determination GO:0007530 9.73 AMH NR5A1 WT1
23 regulation of cell differentiation GO:0045595 9.72 ZFPM2 SOX9 GATA2
24 animal organ development GO:0048513 9.67 GATA2 GATA4 ZFPM2
25 system development GO:0048731 9.5 ZFPM2 GATA4 GATA2
26 negative regulation of female gonad development GO:2000195 9.43 ZFPM2 WT1 NR5A1
27 positive regulation of male gonad development GO:2000020 9.23 ZFPM2 WT1 SOX9 NR5A1

Molecular functions related to 46,xy Sex Reversal 9 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 10.3 AR GATA2 GATA4 NR5A1 SMAD9 SOX9
2 zinc ion binding GO:0008270 10.26 ZFPM2 WT1 NR5A1 GATA4 GATA2 AR
3 RNA polymerase II cis-regulatory region sequence-specific DNA binding GO:0000978 10.21 AR GATA2 GATA4 NR5A1 SMAD9 SOX9
4 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 10.13 WT1 SOX9 GATA4 GATA2 AR
5 chromatin binding GO:0003682 10.1 SOX9 NR5A1 GATA2 CTBP2 AR
6 DNA binding GO:0003677 10.06 ZFPM2 WT1 SOX9 SMAD9 NR5A1 GATA4
7 transcription cis-regulatory region binding GO:0000976 10.04 WT1 SOX9 GATA4 AR
8 RNA polymerase II-specific DNA-binding transcription factor binding GO:0061629 9.86 ZFPM2 GATA4 GATA2 AR
9 C2H2 zinc finger domain binding GO:0070742 9.81 WT1 GATA2
10 DNA-binding transcription factor activity GO:0003700 9.7 WT1 SOX9 NR5A1 GATA4 GATA2 AR
11 transcription coregulator binding GO:0001221 9.63 CTBP2 GATA2 NR5A1
12 sequence-specific DNA binding GO:0043565 9.32 WT1 SOX9 NR5A1 GATA4 GATA2 AR

Sources for 46,xy Sex Reversal 9

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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