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This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer, which plays a role in bone and cartilage development. Duplication of a regulatory region downstream of this gene causes a form of brachydactyly characterized by a malformed index finger and second toe in human patients.
Protein class

Cancer-related genes, Disease related genes, Human disease related genes

Predicted location


Single cell type specificity

Cell type enhanced (Basal keratinocytes, Alveolar cells type 2, Distal enterocytes, Suprabasal keratinocytes)

Immune cell specificity

Not detected in immune cells

Cell line specificity

Cell line enhanced (CACO-2, HeLa, hTERT-HME1, RT4)


Homodimer; disulfide-linked (PubMed:10074410). Interacts with SOSTDC1 (PubMed:15020244). Interacts with GREM2, RGMA, RGMB and RGMC. Interacts with ASPN (By similarity). Interacts with MAFP5 (By similarity). Interacts with FBN1 (via N-terminal domain) and FBN2 (PubMed:18339631). Interacts with type I receptor BMPR1A (PubMed:15064755). Interacts with type II receptor BMPR2 (PubMed:7791754). Interacts with SCUBE3 (PubMed:33308444). Interacts with TNFAIP6 (primarily via Link domain); this interaction is inhibited by hyaluronan.

Molecular function

Cytokine, Developmental protein, Growth factor

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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