GDF6

GENE INFORMATION

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Gene name

GDF6 (HGNC Symbol)

Synonyms

BMP13, KFS, KFS1, SGM1

Description

Growth differentiation factor 6 (HGNC Symbol)

Entrez gene summary

This gene encodes a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily of secreted signaling molecules. It is required for normal formation of some bones and joints in the limbs, skull, and axial skeleton. Mutations in this gene result in colobomata, which are congenital abnormalities in ocular development, and in Klippel-Feil syndrome (KFS), which is a congenital disorder of spinal segmentation. [provided by RefSeq, Jul 2008]

Chromosome

8

Cytoband

q22.1

Chromosome location (bp)

96142330 - 96160792

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000156466 (version 78.38)

Entrez gene

392255

UniProt

Q6KF10 (UniProt - Evidence at protein level)

neXtProt

NX_Q6KF10

Antibodypedia

GDF6 antibodies
 

PROTEIN VIEW

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GDF6-001
 
GDF6-201
 
GDF6-202
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

GDF6-001 ENSP00000287020
ENST00000287020
Q6KF10
Show all »
Show » Show » 455 50.7 Yes 0
GDF6-201 ENSP00000480170
ENST00000620978
A0PK22
Show all »
Show » Show » 271 29.5 Yes 0
GDF6-202 ENSP00000483711
ENST00000621429
M1L5L6
Show all »
Show » Show » 353 39.3 Yes 0