Gene: WNT4

Alternate names for this Gene: SERKAL|WNT-4

Gene Summary: The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family, and is the first signaling molecule shown to influence the sex-determination cascade. It encodes a protein which shows 98% amino acid identity to the Wnt4 protein of mouse and rat. This gene and a nuclear receptor known to antagonize the testis-determining factor play a concerted role in both the control of female development and the prevention of testes formation. This gene and another two family members, WNT2 and WNT7B, may be associated with abnormal proliferation in breast tissue. Mutations in this gene can result in Rokitansky-Kuster-Hauser syndrome and in SERKAL syndrome.

Gene is located in Chromosome: 1

Location in Chromosome : 1p36.12

Description of this Gene: Wnt family member 4

Type of Gene: protein-coding

rs10737462 in WNT4 gene and Bone Density PMID 29304378 2018 Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects.

PMID 24945404 2014 Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.

PMID 28743860 2017 Bivariate genome-wide association meta-analysis of pediatric musculoskeletal traits reveals pleiotropic effects at the SREBF1/TOM1L2 locus.

rs12037376 in WNT4 gene and Endometriosis PMID 28537267 2017 Meta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism.

PMID 23472165 2013 Genome-wide association study link novel loci to endometriosis.

rs7526484 in WNT4 gene and Intelligence PMID 29520040 2019 Biological annotation of genetic loci associated with intelligence in a meta-analysis of 87,740 individuals.

rs3765350 in WNT4 gene and Lean body mass PMID 28743860 2017 Bivariate genome-wide association meta-analysis of pediatric musculoskeletal traits reveals pleiotropic effects at the SREBF1/TOM1L2 locus.

rs121908650 in WNT4 gene and Mullerian Aplasia and Hyperandrogenism PMID 18182450 2008 Identification and functional analysis of a new WNT4 gene mutation among 28 adolescent girls with primary amenorrhea and müllerian duct abnormalities: a French collaborative study.

PMID 16959810 2007 WNT4 deficiency--a clinical phenotype distinct from the classic Mayer-Rokitansky-Kuster-Hauser syndrome: a case report.

PMID 15317892 2004 A WNT4 mutation associated with Müllerian-duct regression and virilization in a 46,XX woman.

rs12037376 in WNT4 gene and Plexiform leiomyoma PMID 30194396 2018 Variants associating with uterine leiomyoma highlight genetic background shared by various cancers and hormone-related traits.

rs121908651 in WNT4 gene and Sex Reversal, Female, With Dysgenesis Of Kidneys, Adrenals, And Lungs PMID 18179883 2008 SERKAL syndrome: an autosomal-recessive disorder caused by a loss-of-function mutation in WNT4.

rs12037376 in WNT4 gene and Uterine Fibroids PMID 30194396 2018 Variants associating with uterine leiomyoma highlight genetic background shared by various cancers and hormone-related traits.

rs12404660 in WNT4 gene and Waist-Hip Ratio PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 30575882 2018 Association of Genetic Variants Related to Gluteofemoral vs Abdominal Fat Distribution With Type 2 Diabetes, Coronary Disease, and Cardiovascular Risk Factors.