GDF6

GENERAL INFORMATION

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Gene name

GDF6

Gene description

Growth differentiation factor 6

Protein class

Disease related genes
Predicted secreted proteins

Predicted localization

Secreted

Number of transcripts

3
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Group enriched (gallbladder, placenta)
GTEx:Mixed

Protein evidence

Evidence at protein level

Protein localization

RNA data suggests expression in selected group of tissues, most abundant in placenta. RNA-based expert annotation could not be performed.

ANTIBODY RELIABILITY

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Data reliability
description

Pending external verification. Secreted protein, tissue location of RNA and protein might differ and correlation is complex.

Data reliability

Uncertain based on 1 antibody.
HPA045206
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
N/A
Endocrine tissues
N/A
Bone marrow & immune system
N/A
Muscle tissues
N/A
Lung
N/A
Nasopharynx
N/A
N/A
Bronchus
N/A
N/A
Lung
N/A
Liver & gallbladder
N/A
Liver
N/A
Pancreas
N/A
Pancreas
N/A
Gastrointestinal tract
N/A
Kidney & urinary bladder
N/A
Male tissues
N/A
Testis
N/A
Epididymis
N/A
N/A
Prostate
N/A
Seminal vesicle
N/A
N/A
Female tissues
N/A
Breast
N/A
N/A
Vagina
N/A
N/A
Cervix, uterine
N/A
N/A
Ovary
N/A
Placenta
N/A
Adipose & soft tissue
N/A
Skin
N/A
Skin
N/A
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

Placenta



PROTEIN EXPRESSION OVERVIEW

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RNA-based expert annotation could not be performed, due to inconclusive results. View immunohistochemistry primary data.


RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Group enriched (gallbladder, placenta)

Organ

Expression

GTEx dataset
RNA tissue category:  Mixed

Organ

Expression



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 BROWSER

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ENST00000287020
 
ENST00000620978
 
ENST00000621429
 
 
 
 


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