rs148833559

This is a protein-altering variant in the STC2 gene.

GWAS Catalog Trait Associations (8)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

appendicular lean mass

Allele A
OR 0.38
p 9.0e-52
N 450,243
Major Consortium StudyLarge GWAS
European
Hernandez Cordero AI et al. Genome-wide Associations Reveal Human-Mouse Genetic Convergence and Modifiers of Myogenesis, CPNE1 and STC2. American Journal of Human Genetics 105(6):1222-1236 (2019)
Allele A
OR 0.88
p 2.0e-11
N 85,750
Large GWAS
European

body height

Allele A
OR 0.19
p 1.0e-43
N 394,642
Large GWAS
European

whole body water mass

Allele A
OR 0.18
p 4.0e-35
N 394,642
Large GWAS
European

lean body mass

Harris BHL et al. New role of fat-free mass in cancer risk linked with genetic predisposition. Scientific Reports 14(1):7270 (2024)
Allele A
OR 0.17
p 8.0e-22
N 337,739
Large GWAS
European

glioma pathogenesis-related protein 1 measurement

Allele A
OR 0.77
p 9.0e-21
N 47,745
Large GWAS
European

body weight

Allele A
OR 0.16
p 1.0e-14
N 394,642
Large GWAS
European

sex hormone-binding globulin measurement

Allele A
OR 0.06
p 1.0e-8
N 368,929
Large GWAS
European

Abnormality of the skeletal system

Allele A
OR 0.12
p 6.0e-12
N 394,642
Large GWAS
European

About STC2

This gene encodes a secreted, homodimeric glycoprotein that is expressed in a wide variety of tissues and may have autocrine or paracrine functions. The encoded protein has 10 of its 15 cysteine residues conserved among stanniocalcin family members and is phosphorylated by casein kinase 2 exclusively on its serine residues. Its C-terminus contains a cluster of histidine residues which may interact with metal ions. The protein may play a role in the regulation of renal and intestinal calcium and phosphate transport, cell metabolism, or cellular calcium/phosphate homeostasis. Constitutive overexpression of human stanniocalcin 2 in mice resulted in pre- and postnatal growth restriction, reduced bone and skeletal muscle growth, and organomegaly. Expression of this gene is induced by estrogen and altered in some breast cancers. [provided by RefSeq, Jul 2008]

View all STC2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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