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FLASH GENE

Symbol

GDF6

contributors: mct - updated : 16-02-2013

HGNC name	growth differentiation factor 6
HGNC id	4221

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	KFS1 Klippel-Feil syndrome with laryngeal malformation
Location	8q22.1      Physical location : 97.154.559 - 97.173.020
Synonym name	growth/differentiation factor 16
Synonym symbol(s)	GDF16, CDMP2, GDF-6, BMP13, KFS, KFSL, MGC158100, MGC158101, SGM1, MCOP4

DNA

TYPE	functioning gene
STRUCTURE	18.46 kb     2 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001001557 2 - 3716 NP_001001557 50.7 455 - 2008 18425797

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Reproductive male system testis

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo

Text	embryonic proximal limbs joints, skull, larynx and digits, neural tube, retina, teeeth

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

mono polymer

homomer , dimer

HOMOLOGY

interspecies

ortholog to murine Gdf6 (86 pc)

Homologene

FAMILY	(BMP) family of secreted signaling molecules
	TGF-beta family

CATEGORY

regulatory , transcription factor

SUBCELLULAR LOCALIZATION

extracellular

basic FUNCTION	required for the formation of limb, ear, and skull joints
	controlling developmental patterning of skeletal joints and associated with numerous, distant cis-acting
	regulatory elements
	may be involved in bone formation
	plays a role in formation of a diverse subset of skeletal joints
	plays an inhibitory role to prevent the osteogenic differentiation of the coronal suture mesenchyme

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

homodimer, disulfide-linked

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

KFS1

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional   deletion     genomic deletion 8q21.2q22.1 in a patient with chorioretinal coloboma point to a key role of GDF6 in ocular development

Susceptibility

Variant & Polymorphism

Candidate gene	for ocular developmental anomalies
Marker
Therapy target

ANIMAL & CELL MODELS

	zebrafish, mice and xenopus models of gdf6 inhibition with ocular developmental phenotype
	in mice, loss of Gdf6 results in fusion of the coronal suture, the intramembranous joint that separates the frontal and parietal bones