GDF6
entrez
392255
canonical
uniprot
Q6KF10
canonical
ensembl
ENSG00000156466
resolver
ensp
ENSP00000287020
resolver
enst
ENST00000287020
resolver
genesymbol
GDF6
resolver
genesymbol_syn
BMP13
resolver
genesymbol_syn
GDF16
resolver
hgnc
HGNC:4221
resolver
uniprot
Q6PI58
resolver
uniprot_entry
GDF6_HUMAN
resolver
uniprot_sec
Q6PI58
resolver
amino_acid_sequence
MDTPRVLLSAVFLISFLWDLPGFQQASISSSSSSAELGSTKGMRSRKEGKMQRAPRDSDAGREGQEPQPRPQDEPRAQQPRAQEPPGRGPRVVPHEYMLSIYRTYSIAEKLGINASFFQSSKSANTITSFVDRGLDDLSHTPLRRQKYLFDVSMLSDKEELVGAELRLFRQAPSAPWGPPAGPLHVQLFPCLSPLLLDARTLDPQGAPPAGWEVFDVWQGLRHQPWKQLCLELRAAWGELDAGEAEARARGPQQPPPPDLRSLGFGRRVRPPQERALLVVFTRSQRKNLFAEMREQLGSAEAAGPGAGAEGSWPPPSGAPDARPWLPSPGRRRRRTAFASRHGKRHGKKSRLRCSKKPLHVNFKELGWDDWIIAPLEYEAYHCEGVCDFPLRSHLEPTNHAIIQTLMNSMDPGSTPPSCCVPTKLTPISILYIDAGNNVVYKQYEDMVVESCGCR
uniprot
proteins
disease_involvement
DISEASE: Klippel-Feil syndrome 1, autosomal dominant (KFS1) [MIM:118100]: A skeletal disorder characterized by congenital fusion of cervical vertebrae. It is due to a failure in the normal segmentation of vertebrae during the early weeks of fetal development. The clinical triad consists of short neck, low posterior hairline, and limited neck movement. Deafness is a feature in some cases and may be of sensorineural, conductive, or mixed type. {ECO:0000269|PubMed:18425797, ECO:0000269|PubMed:19129173}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Note=A chromosomal aberration involving GDF6 has been found in a patient with Klippel-Feil syndrome (KFS). Paracentric inv(8)(q22;2q23.3). {ECO:0000269|PubMed:18425797}.; DISEASE: Microphthalmia, isolated, 4 (MCOP4) [MIM:613094]: A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. {ECO:0000269|PubMed:19129173, ECO:0000269|PubMed:24033328}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Leber congenital amaurosis 17 (LCA17) [MIM:615360]: A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or almost absent pupillary responses, photophobia, high hyperopia and keratoconus. {ECO:0000269|PubMed:23307924}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Multiple synostoses syndrome 4 (SYNS4) [MIM:617898]: A bone disease characterized by multiple progressive joint fusions that commonly involve proximal interphalangeal, tarsal-carpal, humeroradial and cervical spine joints. Additional features can include progressive conductive deafness and facial dysmorphism. SYNS4 inheritance is autosomal dominant. {ECO:0000269|PubMed:26643732, ECO:0000269|PubMed:29130651}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Deafness, autosomal recessive, 118, with cochlear aplasia (DFNB118) [MIM:619553]: A form of non-syndromic deafness characterized by congenital profound sensorineural hearing loss and cochlear aplasia. Sensorineural hearing loss results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269|PubMed:32369452}. Note=The gene represented in this entry is involved in disease pathogenesis. Homozygous deletions on chromosome 8 removing putative enhancers of GDF6, segregate with the disease in families with congenital deafness and cochlear aplasia. {ECO:0000269|PubMed:32369452}.
uniprot
proteins
function
FUNCTION: Growth factor that controls proliferation and cellular differentiation in the retina and bone formation. Plays a key role in regulating apoptosis during retinal development. Establishes dorsal-ventral positional information in the retina and controls the formation of the retinotectal map (PubMed:23307924). Required for normal formation of bones and joints in the limbs, skull, digits and axial skeleton. Plays a key role in establishing boundaries between skeletal elements during development. Regulation of GDF6 expression seems to be a mechanism for evolving species-specific changes in skeletal structures. Seems to positively regulate differentiation of chondrogenic tissue through the growth factor receptors subunits BMPR1A, BMPR1B, BMPR2 and ACVR2A, leading to the activation of SMAD1-SMAD5-SMAD8 complex. The regulation of chondrogenic differentiation is inhibited by NOG (PubMed:26643732). Also involved in the induction of adipogenesis from mesenchymal stem cells. This mechanism acts through the growth factor receptors subunits BMPR1A, BMPR2 and ACVR2A and the activation of SMAD1-SMAD5-SMAD8 complex and MAPK14/p38 (By similarity). {ECO:0000250|UniProtKB:P43028, ECO:0000269|PubMed:23307924, ECO:0000269|PubMed:26643732}.
uniprot
proteins
mass_dalton
50662
uniprot
proteins
protein_family
TGF-beta family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18425797
uniprot
proteins
pubmed
19129173
uniprot
proteins
pubmed
19864492
uniprot
proteins
pubmed
23307924
uniprot
proteins
pubmed
24033328
uniprot
proteins
pubmed
26643732
uniprot
proteins
pubmed
29130651
uniprot
proteins
pubmed
32369452
uniprot
proteins
sequence_length
455
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:23307924}.
uniprot
proteins