SRXY9
MCID: 46X030
MIFTS: 43

46,xy Sex Reversal 9 (SRXY9)

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

Aliases & Classifications for 46,xy Sex Reversal 9

MalaCards integrated aliases for 46,xy Sex Reversal 9:

Name: 46,xy Sex Reversal 9 57 12 72 29 6 15 70
46,xy Sex Reversal, Zfpm2-Related 57 12 72
Srxy9 57 12 72
Sex Reversal, 46xy, Type 9 39
46xy Sex Reversal 9 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
only 46,xy individuals are affected
based on report of 2 probands (last curated october 2014)


HPO:

31
46,xy sex reversal 9:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111770
OMIM® 57 616067
OMIM Phenotypic Series 57 PS400044
MeSH 44 D006061
UMLS 70 C4015129

Summaries for 46,xy Sex Reversal 9

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 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 nNOS Signaling in Skeletal Muscle and Factors involved in megakaryocyte development and platelet production. Affiliated tissues include uterus, testis and heart, and related phenotypes are autistic behavior and ambiguous genitalia

UniProtKB/Swiss-Prot : 72 46,XY sex reversal 9: 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 all 48)
# Related Disease Score Top Affiliating Genes
1 diaphragmatic hernia 3 10.3 ZFPM2-AS1 ZFPM2
2 testicular thecoma 10.3 ZFPM2 GATA4
3 46,xy sex reversal 3 10.2 NR5A1 GATA4
4 syndromic x-linked intellectual disability 94 10.2 SMAD9 CACNA1E
5 tricuspid atresia 10.2 ZFPM2 GATA4
6 diaphragm disease 10.1 ZFPM2 GATA4
7 double outlet right ventricle 10.1 ZFPM2-AS1 ZFPM2 GATA4
8 atrial heart septal defect 10.0 ZFPM2 SMAD9 GATA4
9 spermatogenic failure 8 10.0 NR5A1 AR
10 patent foramen ovale 10.0 ZFPM2 SMAD9 GATA4
11 steroid inherited metabolic disorder 10.0 NR5A1 AMH
12 microcystic stromal tumor 9.9 WT1 NR5A1
13 ebstein anomaly 9.9 ZFPM2 GATA4
14 ovarian sex-cord stromal tumor 9.9 WT1 NR5A1
15 oligoasthenoteratozoospermia 9.9 AR AMH
16 ovarian large-cell neuroendocrine carcinoma 9.9 WT1 AMH
17 androgen insensitivity syndrome 9.9 NR5A1 AR AMH
18 wolffian duct adenocarcinoma 9.8 WT1 AR
19 ovarian endometrioid stromal sarcoma 9.8 WT1 AR
20 mixed gonadal dysgenesis 9.8 SOX9 NR5A1 AMH
21 46,xx sex reversal 9.8 SOX9 NR5A1 AMH
22 ovarian benign neoplasm 9.8 WT1 AMH
23 cerebellar angioblastoma 9.8 WT1 SDHB
24 campomelic dysplasia 9.8 SOX9 NR5A1 AMH
25 benign struma ovarii 9.8 WT1 AMH
26 ovarian gonadoblastoma 9.8 WT1 SOX9
27 diaphragmatic hernia, congenital 9.7 ZFPM2-AS1 ZFPM2 WT1 GATA4
28 sex cord-gonadal stromal tumor 9.7 WT1 NR5A1
29 sertoli cell tumor 9.7 WT1 NR5A1 AR
30 hypogonadotropic hypogonadism 9.6 NR5A1 AR AMH
31 nivelon-nivelon-mabille syndrome 9.6 WT1 SOX9 NR5A1
32 46,xy sex reversal 2 9.6 WT1 SOX9 NR5A1
33 frasier syndrome 9.6 WT1 SOX9 NR5A1
34 hermaphroditism 9.6 ZFPM2 SOX9 AR AMH
35 inguinal hernia 9.5 WT1 GATA4 AR AMH
36 gonadoblastoma 9.4 WT1 SOX9 NR5A1 AMH
37 persistent mullerian duct syndrome 9.4 WT1 SOX9 NR5A1 AMH
38 gonadal dysgenesis 9.3 ZFPM2 WT1 SOX9 NR5A1 AMH
39 wilms tumor 1 9.2 WT1 SOX9 NR5A1 AR
40 46,xy partial gonadal dysgenesis 9.2 ZFPM2-AS1 ZFPM2 WT1 SOX9 NR5A1 GATA4
41 hypospadias 9.2 WT1 SOX9 NR5A1 GATA4 AR
42 disorder of sexual development 9.1 WT1 SOX9 NR5A1 AR AMH
43 pseudohermaphroditism 9.1 WT1 SOX9 NR5A1 AR AMH
44 premature menopause 9.1 WT1 SOX9 NR5A1 AR AMH
45 cryptorchidism, unilateral or bilateral 8.8 ZFPM2 WT1 SOX9 NR5A1 GATA4 AR
46 46,xy sex reversal 8.7 ZFPM2-AS1 ZFPM2 WT1 SOX9 NR5A1 GATA4
47 disease of mental health 8.6 WT1 SOX9 SMAD9 GATA4 CACNA1E AR
48 retinitis pigmentosa 8.6 WT1 SOX9 SMAD9 SDHB CTBP2 CACNA1E

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:

31
# Description HPO Frequency HPO Source Accession
1 autistic behavior 31 occasional (7.5%) HP:0000729
2 ambiguous genitalia 31 HP:0000062
3 gonadal dysgenesis 31 HP:0000133
4 sex reversal 31 HP:0012245
5 fused labia minora 31 HP:0000063

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 20-May-2021)

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.13 AR CTBP2 GATA2 GATA4 NR5A1 SMAD9
2 endocrine/exocrine gland MP:0005379 10.13 AMH AR CACNA1E GATA2 GATA4 NR5A1
3 homeostasis/metabolism MP:0005376 10.1 AMH AR CACNA1E GATA2 GATA4 NR5A1
4 mortality/aging MP:0010768 10.07 AR CTBP2 GATA2 GATA4 NR5A1 SDHB
5 embryo MP:0005380 10.06 AR CTBP2 GATA2 GATA4 NR5A1 SMAD9
6 muscle MP:0005369 9.87 AR CTBP2 GATA4 SMAD9 SOX9 WT1
7 no phenotypic analysis MP:0003012 9.7 AMH GATA4 SDHB SMAD9 SOX9 WT1
8 neoplasm MP:0002006 9.65 AMH AR SDHB SMAD9 WT1
9 normal MP:0002873 9.65 AR CACNA1E GATA2 GATA4 NR5A1 SDHB
10 reproductive system MP:0005389 9.28 AMH AR GATA2 GATA4 NR5A1 SMAD9

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 29 ZFPM2

Anatomical Context for 46,xy Sex Reversal 9

MalaCards organs/tissues related to 46,xy Sex Reversal 9:

40
Uterus, Testis, Heart

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 6
24549039 2014
2
New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle. 6
20807224 2011

Variations for 46,xy Sex Reversal 9

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

6 (show top 50) (show all 66)
# 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.2096A>C (p.His699Pro) SNV Uncertain significance 240842 rs368486644 GRCh37: 8:106814406-106814406
GRCh38: 8:105802178-105802178
4 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
5 ZFPM2 NM_012082.4(ZFPM2):c.364G>T (p.Val122Leu) SNV Uncertain significance 477991 rs772114579 GRCh37: 8:106573653-106573653
GRCh38: 8:105561425-105561425
6 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
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.3334A>G (p.Ser1112Gly) SNV Uncertain significance 477990 rs1554583419 GRCh37: 8:106815644-106815644
GRCh38: 8:105803416-105803416
9 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
10 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
11 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
12 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
13 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
14 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
15 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
16 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
17 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
18 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
19 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
20 ZFPM2-AS1 , ZFPM2 NM_012082.4(ZFPM2):c.617T>C (p.Leu206Pro) SNV Uncertain significance 857370 GRCh37: 8:106801030-106801030
GRCh38: 8:105788802-105788802
21 ZFPM2-AS1 , ZFPM2 NM_012082.4(ZFPM2):c.2930G>A (p.Gly977Glu) SNV Uncertain significance 864127 GRCh37: 8:106815240-106815240
GRCh38: 8:105803012-105803012
22 ZFPM2 NM_012082.4(ZFPM2):c.463A>G (p.Lys155Glu) SNV Uncertain significance 942265 GRCh37: 8:106646516-106646516
GRCh38: 8:105634288-105634288
23 ZFPM2-AS1 , ZFPM2 NM_012082.4(ZFPM2):c.2935G>A (p.Asp979Asn) SNV Uncertain significance 944916 GRCh37: 8:106815245-106815245
GRCh38: 8:105803017-105803017
24 ZFPM2-AS1 , ZFPM2 NM_012082.4(ZFPM2):c.2650C>T (p.Arg884Cys) SNV Uncertain significance 953486 GRCh37: 8:106814960-106814960
GRCh38: 8:105802732-105802732
25 ZFPM2-AS1 , ZFPM2 NM_012082.4(ZFPM2):c.2119C>G (p.Gln707Glu) SNV Uncertain significance 964519 GRCh37: 8:106814429-106814429
GRCh38: 8:105802201-105802201
26 ZFPM2-AS1 , ZFPM2 NM_012082.4(ZFPM2):c.2983G>A (p.Gly995Ser) SNV Uncertain significance 968743 GRCh37: 8:106815293-106815293
GRCh38: 8:105803065-105803065
27 ZFPM2-AS1 , ZFPM2 NM_012082.4(ZFPM2):c.664C>T (p.Arg222Cys) SNV Uncertain significance 1008833 GRCh37: 8:106801077-106801077
GRCh38: 8:105788849-105788849
28 ZFPM2-AS1 , ZFPM2 NM_012082.4(ZFPM2):c.2903A>G (p.Tyr968Cys) SNV Uncertain significance 1018642 GRCh37: 8:106815213-106815213
GRCh38: 8:105802985-105802985
29 ZFPM2-AS1 , ZFPM2 NM_012082.4(ZFPM2):c.2593A>G (p.Lys865Glu) SNV Uncertain significance 1025375 GRCh37: 8:106814903-106814903
GRCh38: 8:105802675-105802675
30 ZFPM2-AS1 , ZFPM2 NM_012082.4(ZFPM2):c.2633C>T (p.Pro878Leu) SNV Uncertain significance 1025608 GRCh37: 8:106814943-106814943
GRCh38: 8:105802715-105802715
31 ZFPM2-AS1 , ZFPM2 NM_012082.4(ZFPM2):c.1866A>G (p.Gln622=) SNV Uncertain significance 1040149 GRCh37: 8:106814176-106814176
GRCh38: 8:105801948-105801948
32 ZFPM2-AS1 , ZFPM2 NM_012082.4(ZFPM2):c.3161C>T (p.Pro1054Leu) SNV Uncertain significance 1040935 GRCh37: 8:106815471-106815471
GRCh38: 8:105803243-105803243
33 ZFPM2-AS1 , ZFPM2 NM_012082.4(ZFPM2):c.1721G>A (p.Arg574Gln) SNV Uncertain significance 1046639 GRCh37: 8:106814031-106814031
GRCh38: 8:105801803-105801803
34 ZFPM2-AS1 , ZFPM2 NM_012082.4(ZFPM2):c.2230A>T (p.Met744Leu) SNV Uncertain significance 1055629 GRCh37: 8:106814540-106814540
GRCh38: 8:105802312-105802312
35 ZFPM2 NM_012082.4(ZFPM2):c.74A>G (p.Glu25Gly) SNV Uncertain significance 1058526 GRCh37: 8:106431405-106431405
GRCh38: 8:105419177-105419177
36 ZFPM2 NM_012082.4(ZFPM2):c.121C>G (p.Pro41Ala) SNV Uncertain significance 1061068 GRCh37: 8:106431452-106431452
GRCh38: 8:105419224-105419224
37 ZFPM2-AS1 , ZFPM2 NM_012082.4(ZFPM2):c.2295C>A (p.Asn765Lys) SNV Uncertain significance 1061567 GRCh37: 8:106814605-106814605
GRCh38: 8:105802377-105802377
38 ZFPM2 NM_012082.4(ZFPM2):c.285C>T (p.Asp95=) SNV Likely benign 696378 rs371910925 GRCh37: 8:106456593-106456593
GRCh38: 8:105444365-105444365
39 ZFPM2-AS1 , ZFPM2 NM_012082.4(ZFPM2):c.679A>G (p.Ile227Val) SNV Likely benign 696409 rs202204708 GRCh37: 8:106801092-106801092
GRCh38: 8:105788864-105788864
40 ZFPM2-AS1 , ZFPM2 NM_012082.4(ZFPM2):c.846G>A (p.Pro282=) SNV Likely benign 697403 rs916094617 GRCh37: 8:106811058-106811058
GRCh38: 8:105798830-105798830
41 ZFPM2 NM_012082.4(ZFPM2):c.240G>T (p.Gly80=) SNV Likely benign 544221 rs765866053 GRCh37: 8:106456548-106456548
GRCh38: 8:105444320-105444320
42 ZFPM2-AS1 , ZFPM2 NM_012082.4(ZFPM2):c.1871C>G (p.Ser624Cys) SNV Likely benign 544219 rs34248551 GRCh37: 8:106814181-106814181
GRCh38: 8:105801953-105801953
43 ZFPM2-AS1 , ZFPM2 NM_012082.4(ZFPM2):c.1227G>T (p.Gln409His) SNV Likely benign 544223 rs201439692 GRCh37: 8:106813537-106813537
GRCh38: 8:105801309-105801309
44 ZFPM2-AS1 , ZFPM2 NM_012082.4(ZFPM2):c.822T>C (p.Ser274=) SNV Likely benign 414005 rs777185799 GRCh37: 8:106811034-106811034
GRCh38: 8:105798806-105798806
45 ZFPM2 NM_012082.4(ZFPM2):c.89A>G (p.Glu30Gly) SNV Likely benign 6128 rs121908601 GRCh37: 8:106431420-106431420
GRCh38: 8:105419192-105419192
46 ZFPM2-AS1 , ZFPM2 NM_012082.4(ZFPM2):c.1632G>A (p.Met544Ile) SNV Benign/Likely benign 39518 rs187043152 GRCh37: 8:106813942-106813942
GRCh38: 8:105801714-105801714
47 ZFPM2 NM_012082.4(ZFPM2):c.41-4C>A SNV Benign 544222 rs374926066 GRCh37: 8:106431368-106431368
GRCh38: 8:105419140-105419140
48 ZFPM2-AS1 , ZFPM2 NM_012082.4(ZFPM2):c.1578G>T (p.Arg526=) SNV Benign 544224 rs200643137 GRCh37: 8:106813888-106813888
GRCh38: 8:105801660-105801660
49 ZFPM2-AS1 , ZFPM2 NM_012082.4(ZFPM2):c.1276G>A (p.Ala426Thr) SNV Benign 544225 rs35843564 GRCh37: 8:106813586-106813586
GRCh38: 8:105801358-105801358
50 ZFPM2-AS1 , ZFPM2 NM_012082.4(ZFPM2):c.533-4A>T SNV Benign 544226 rs138466839 GRCh37: 8:106800942-106800942
GRCh38: 8:105788714-105788714

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

72
# 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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.05 SMAD9 GATA4 GATA2 CACNA1E
2 11.69 ZFPM2 GATA4 GATA2
3 11.05 WT1 SOX9 GATA4 GATA2
4 10.6 SMAD9 GATA4
5 10 SMAD9 AMH

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 nucleoplasm GO:0005654 9.65 ZFPM2 WT1 SOX9 SMAD9 SDHB NR5A1
2 chromatin GO:0000785 9.23 ZFPM2 WT1 SOX9 SMAD9 NR5A1 GATA4

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 10.04 WT1 SOX9 SMAD9 NR5A1 GATA4 GATA2
2 regulation of transcription by RNA polymerase II GO:0006357 10.03 ZFPM2 WT1 SOX9 SMAD9 NR5A1 GATA4
3 negative regulation of transcription by RNA polymerase II GO:0000122 9.95 ZFPM2 WT1 SOX9 GATA2 CTBP2 AR
4 cell differentiation GO:0030154 9.95 ZFPM2 SOX9 SMAD9 NR5A1 GATA2 CTBP2
5 positive regulation of transcription, DNA-templated GO:0045893 9.93 ZFPM2 WT1 SOX9 NR5A1 GATA4 AR
6 positive regulation of transcription by RNA polymerase II GO:0045944 9.92 ZFPM2 WT1 SOX9 NR5A1 GATA4 GATA2
7 negative regulation of cell proliferation GO:0008285 9.88 WT1 SOX9 CTBP2 AR
8 positive regulation of gene expression GO:0010628 9.85 WT1 SOX9 NR5A1 GATA2 AR AMH
9 blood coagulation GO:0007596 9.78 ZFPM2 GATA4 GATA2
10 transcription initiation from RNA polymerase II promoter GO:0006367 9.77 SOX9 NR5A1 AR
11 cell fate commitment GO:0045165 9.69 SOX9 GATA4 GATA2
12 aortic valve morphogenesis GO:0003180 9.6 SOX9 GATA4
13 homeostasis of number of cells within a tissue GO:0048873 9.58 SOX9 GATA2
14 adrenal gland development GO:0030325 9.57 WT1 NR5A1
15 urogenital system development GO:0001655 9.56 GATA2 AMH
16 gonad development GO:0008406 9.55 WT1 AMH
17 male gonad development GO:0008584 9.55 WT1 SOX9 NR5A1 GATA4 AR
18 male sex determination GO:0030238 9.54 SOX9 NR5A1
19 gonadal mesoderm development GO:0007506 9.52 ZFPM2 AMH
20 sex determination GO:0007530 9.43 WT1 NR5A1 AMH
21 negative regulation of female gonad development GO:2000195 9.13 ZFPM2 WT1 NR5A1
22 positive regulation of male gonad development GO:2000020 8.92 ZFPM2 WT1 SOX9 NR5A1

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 10.08 ZFPM2 WT1 SOX9 SMAD9 NR5A1 GATA4
2 metal ion binding GO:0046872 10.02 ZFPM2 WT1 SMAD9 SDHB NR5A1 GATA4
3 zinc ion binding GO:0008270 9.85 ZFPM2 WT1 NR5A1 GATA4 GATA2 AR
4 sequence-specific double-stranded DNA binding GO:1990837 9.84 SOX9 NR5A1 GATA4 GATA2
5 chromatin binding GO:0003682 9.83 SOX9 NR5A1 GATA2 CTBP2 AR
6 transcription factor binding GO:0008134 9.81 ZFPM2 GATA4 GATA2 AR
7 transcription regulatory region sequence-specific DNA binding GO:0000976 9.8 WT1 SOX9 GATA4 AR
8 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.8 WT1 SOX9 GATA4 GATA2 AR
9 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.8 WT1 SOX9 SMAD9 NR5A1 GATA4 GATA2
10 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.7 WT1 SOX9 SMAD9 NR5A1 GATA4 GATA2
11 RNA polymerase II transcription factor binding GO:0001085 9.63 ZFPM2 GATA4 AR
12 C2H2 zinc finger domain binding GO:0070742 9.52 WT1 GATA2
13 sequence-specific DNA binding GO:0043565 9.43 WT1 SOX9 NR5A1 GATA4 GATA2 AR
14 DNA-binding transcription factor activity GO:0003700 9.17 WT1 SOX9 SMAD9 NR5A1 GATA4 GATA2

Sources for 46,xy Sex Reversal 9

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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