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GDF6

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GENERAL INFORMATION

Gene name

 GDF6

Gene description

 Growth differentiation factor 6

Protein class

 Disease related genes
Predicted secreted proteins

Predicted localization

 Secreted

Number of transcripts

 3
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

Summary

RNA cell category

 Cell line enriched (LHCN-M2)

Protein evidence

 Evidence at protein level

Main location

 Not available

DATA RELIABILITY

Reliability score

 Pending cell analysis.

ASSAYS
RNA expression

RNA EXPRESSION OVERVIEW
RNA cell line category: Cell line enriched (LHCN-M2)
Organ
Origin
Category
Expression
Alphabetical
Cell lines sorted after organ of phenotypic resemblance.

GENE INFORMATION

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 83.38)

Entrez gene

 392255

UniProt

 Q6KF10 (UniProt - Evidence at protein level)

neXtProt

 NX_Q6KF10

Antibodypedia

 GDF6 antibodies

PROTEIN BROWSER
GDF6-001
GDF6-201
GDF6-202

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
GDF6-001
ENSP00000287020
ENST00000287020
Q6KF10 [Direct mapping]
Growth/differentiation factor 6
Show all
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   SignalP predicted secreted proteins
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Disease related genes
Show all
GO:0005125 [cytokine activity]
GO:0005160 [transforming growth factor beta receptor binding]
GO:0005615 [extracellular space]
GO:0006915 [apoptotic process]
GO:0008083 [growth factor activity]
GO:0010862 [positive regulation of pathway-restricted SMAD protein phosphorylation]
GO:0030509 [BMP signaling pathway]
GO:0032924 [activin receptor signaling pathway]
GO:0040007 [growth]
GO:0042803 [protein homodimerization activity]
GO:0042981 [regulation of apoptotic process]
GO:0043408 [regulation of MAPK cascade]
GO:0045666 [positive regulation of neuron differentiation]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0048468 [cell development]
GO:0060389 [pathway-restricted SMAD protein phosphorylation]
GO:0060395 [SMAD protein signal transduction]
GO:1990009 [retinal cell apoptotic process]
Show all
 455 aa
50.7 kDa 		Yes 0
GDF6-201
ENSP00000480170
ENST00000620978
A0PK22 [Direct mapping]
GDF6 protein; Growth/differentiation factor 6
Show all
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   SignalP predicted secreted proteins
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Show all
GO:0005125 [cytokine activity]
GO:0005160 [transforming growth factor beta receptor binding]
GO:0005615 [extracellular space]
GO:0008083 [growth factor activity]
GO:0040007 [growth]
GO:0042981 [regulation of apoptotic process]
GO:0043408 [regulation of MAPK cascade]
GO:0048468 [cell development]
GO:0060395 [SMAD protein signal transduction]
Show all
 271 aa
29.5 kDa 		Yes 0
GDF6-202
ENSP00000483711
ENST00000621429
A0A087X0X2 [Direct mapping]
Growth/differentiation factor 6
Show all
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   SignalP predicted secreted proteins
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Show all
GO:0005125 [cytokine activity]
GO:0005160 [transforming growth factor beta receptor binding]
GO:0005615 [extracellular space]
GO:0008083 [growth factor activity]
GO:0040007 [growth]
GO:0042981 [regulation of apoptotic process]
GO:0043408 [regulation of MAPK cascade]
GO:0048468 [cell development]
GO:0060395 [SMAD protein signal transduction]
Show all
 353 aa
39.3 kDa 		Yes 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.