GDF6

growth differentiation factor 6

Tier: Cilia-Associated Genes

Ensembl:: ENSG00000156466
UniProt:: Q6KF10
OMIM:: 601147
Synonyms:: BMP13, KFS, KFS1, SGM1

Ciliogenesis screen results (3 screens)

Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:: abnormal spleen morphology, abnormal thymus morphology, enlarged spleen, abnormal optic disk morphology, preweaning lethality, complete penetrance, increased lung tissue damping, abnormal digit morphology, enlarged thymus, no spontaneous movement
Human ciliopathy phenotype:: isolated microphthalmia 4; Leber congenital amaurosis 17; Isolated anophthalmia - microphthalmia; microphthalmia, isolated, with coloboma; microphthalmia

Ciliopathy associations

Leber Congenital Amaurosis

References: PMID:23307924

Subcellular localization

No ciliary localization reported (cilia-associated gene).

Functional category

Ciliary assembly/disassembly
Cell migration & adhesion
Signaling (Hedgehog, GPCRs, ion channels)
ECM & connective tissue

Function

Zebrafish Gdf6 plays a role in later eye development, notably that gdf6 mRNA is expressed in the proliferative ciliary marginal zone with apoptotic cell death observed in mutants ( 23307924).

Note: Additional interactive sections (perturbation matrix visualization, phylogenetic conservation strip, protein complex network, STRING interactions) require JavaScript. Browse CiliaHub for the full experience.