Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	392255
Gene name Gene Name - the full gene name approved by the HGNC.	Growth differentiation factor 6
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	GDF6
Synonyms (NCBI Gene) Gene synonyms aliases	BMP-13, BMP13, CDMP2, KFM, KFS, KFS1, KFSL, SGM1, SYNS4
Chromosome Chromosome number	8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	8q22.1
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate

Show/Hide all(12)

SNP ID	Visualize variation	Clinical significance	Consequence
rs63751220	A>G	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs121909352	G>T	Likely-benign, uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs121909353	T>C	Likely-benign, pathogenic	Missense variant, coding sequence variant
rs121909354	C>A,G	Pathogenic	Missense variant, coding sequence variant
rs121909355	T>A,C	Pathogenic	Missense variant, coding sequence variant
rs121909356	G>T	Pathogenic	Missense variant, coding sequence variant
rs140782427	G>A	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs387906794	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs397514725	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs878853102	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1401531865	C>G,R	Pathogenic	Missense variant, coding sequence variant
rs1554571213	A>T	Pathogenic	Coding sequence variant, missense variant

Show/Hide all(54)

miRTarBase ID	miRNA	Experiments	Reference
MIRT724186	hsa-miR-6887-3p	HITS-CLIP	19536157
MIRT724185	hsa-miR-6795-3p	HITS-CLIP	19536157
MIRT724184	hsa-miR-3127-3p	HITS-CLIP	19536157
MIRT724183	hsa-miR-6756-3p	HITS-CLIP	19536157
MIRT724182	hsa-miR-5088-3p	HITS-CLIP	19536157
MIRT724181	hsa-miR-6845-3p	HITS-CLIP	19536157
MIRT724180	hsa-miR-6826-3p	HITS-CLIP	19536157
MIRT724179	hsa-miR-6749-3p	HITS-CLIP	19536157
MIRT724178	hsa-miR-4279	HITS-CLIP	19536157
MIRT681713	hsa-miR-589-3p	HITS-CLIP	23706177
MIRT681712	hsa-miR-570-3p	HITS-CLIP	23706177
MIRT681712	hsa-miR-570-3p	PAR-CLIP	26701625
MIRT681712	hsa-miR-570-3p	PAR-CLIP	27292025
MIRT681712	hsa-miR-570-3p	PAR-CLIP	27292025
MIRT681712	hsa-miR-570-3p	PAR-CLIP	27292025
MIRT681712	hsa-miR-570-3p	PAR-CLIP	27292025
MIRT681712	hsa-miR-570-3p	PAR-CLIP	27292025
MIRT681713	hsa-miR-589-3p	PAR-CLIP	27292025
MIRT681713	hsa-miR-589-3p	PAR-CLIP	27292025
MIRT681713	hsa-miR-589-3p	PAR-CLIP	27292025
MIRT681712	hsa-miR-570-3p	HITS-CLIP	27418678
MIRT735642	hsa-miR-98-3p	Luciferase reporter assay, Western blotting, Immunohistochemistry (IHC), qRT-PCR, In situ hybridization	32045359
MIRT724186	hsa-miR-6887-3p	HITS-CLIP	19536157
MIRT724185	hsa-miR-6795-3p	HITS-CLIP	19536157
MIRT724184	hsa-miR-3127-3p	HITS-CLIP	19536157
MIRT724183	hsa-miR-6756-3p	HITS-CLIP	19536157
MIRT724182	hsa-miR-5088-3p	HITS-CLIP	19536157
MIRT724181	hsa-miR-6845-3p	HITS-CLIP	19536157
MIRT724180	hsa-miR-6826-3p	HITS-CLIP	19536157
MIRT724179	hsa-miR-6749-3p	HITS-CLIP	19536157
MIRT724178	hsa-miR-4279	HITS-CLIP	19536157
MIRT681713	hsa-miR-589-3p	HITS-CLIP	23706177
MIRT681712	hsa-miR-570-3p	HITS-CLIP	23706177
MIRT1015745	hsa-miR-361-3p	CLIP-seq
MIRT1015746	hsa-miR-3620	CLIP-seq
MIRT1015747	hsa-miR-4738-5p	CLIP-seq
MIRT1015748	hsa-miR-570	CLIP-seq
MIRT2000730	hsa-miR-1267	CLIP-seq
MIRT2000731	hsa-miR-4275	CLIP-seq
MIRT2000732	hsa-miR-4287	CLIP-seq
MIRT2000733	hsa-miR-4652-3p	CLIP-seq
MIRT2000734	hsa-miR-4685-3p	CLIP-seq
MIRT2000735	hsa-miR-4778-5p	CLIP-seq
MIRT2000736	hsa-miR-488	CLIP-seq
MIRT2000737	hsa-miR-653	CLIP-seq
MIRT2234210	hsa-miR-3183	CLIP-seq
MIRT2234211	hsa-miR-4723-3p	CLIP-seq
MIRT2450164	hsa-miR-1224-3p	CLIP-seq
MIRT2450165	hsa-miR-296-5p	CLIP-seq
MIRT2234210	hsa-miR-3183	CLIP-seq
MIRT2450166	hsa-miR-3184	CLIP-seq
MIRT2450167	hsa-miR-423-5p	CLIP-seq
MIRT2450168	hsa-miR-4688	CLIP-seq
MIRT2234211	hsa-miR-4723-3p	CLIP-seq

Show/Hide all(32)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001656	Process	Metanephros development	IDA	32737436
GO:0001656	Process	Metanephros development	IEA
GO:0005125	Function	Cytokine activity	IBA
GO:0005125	Function	Cytokine activity	IEA
GO:0005515	Function	Protein binding	IPI	18586671
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0006915	Process	Apoptotic process	ISS
GO:0008083	Function	Growth factor activity	IEA
GO:0010631	Process	Epithelial cell migration	IEA
GO:0030509	Process	BMP signaling pathway	IBA
GO:0030509	Process	BMP signaling pathway	IDA	16049014
GO:0030509	Process	BMP signaling pathway	IEA
GO:0030509	Process	BMP signaling pathway	IEA
GO:0032332	Process	Positive regulation of chondrocyte differentiation	IMP	26643732
GO:0032924	Process	Activin receptor signaling pathway	IDA	16049014
GO:0035788	Process	Cell migration involved in metanephros development	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0045444	Process	Fat cell differentiation	IEA
GO:0045444	Process	Fat cell differentiation	ISS
GO:0045597	Process	Positive regulation of cell differentiation	IEA
GO:0045666	Process	Positive regulation of neuron differentiation	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	16049014
GO:0060391	Process	Positive regulation of SMAD protein signal transduction	IDA	16049014
GO:0060391	Process	Positive regulation of SMAD protein signal transduction	IEA
GO:0060391	Process	Positive regulation of SMAD protein signal transduction	IMP	26643732
GO:0060391	Process	Positive regulation of SMAD protein signal transduction	ISS
GO:1900745	Process	Positive regulation of p38MAPK cascade	IEA
GO:1900745	Process	Positive regulation of p38MAPK cascade	ISS
GO:1990009	Process	Retinal cell apoptotic process	ISS

MIM	HGNC	e!Ensembl
601147	4221	ENSG00000156466

Protein

UniProt ID

Q6KF10

Protein name

Growth/differentiation factor 6 (GDF-6) (Bone morphogenetic protein 13) (BMP-13) (Growth/differentiation factor 16)

Protein 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 con

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00688	TGFb_propeptide	64 → 281	TGF-beta propeptide	Family
PF00019	TGF_beta	353 → 454	Transforming growth factor beta like domain	Domain

Sequence

MDTPRVLLSAVFLISFLWDLPGFQQASISSSSSSAELGSTKGMRSRKEGKMQRAPRDSDA
GREGQEPQPRPQDEPRAQQPRAQEPPGRGPRVVPHEYMLSIYRTYSIAEKLGINASFFQS
SKSANTITSFVDRGLDDLSHTPLRRQKYLFDVSMLSDKEELVGAELRLFRQAPSAPWGPP
AGPLHVQLFPCLSPLLLDARTLDPQGAPPAGWEVFDVWQGLRHQPWKQLCLELRAAWGEL
DAGEAEARARGPQQPPPPDLRSLGFGRRVRPPQERALLVVFTRSQRKNLFAEMREQLGSA
EAAGPGAGAEGSWPPPSGAPDARPWLPSPGRRRRRTAFASRHGKRHGKKSRLRCSKKPLH
VNFKELGWDDWIIAPLEYEAYHCEGVCDFPLRSHLEPTNHAIIQTLMNSMDPGSTPPSCC
VPTKLTPISILYIDAGNNVVYKQYEDMVVESCGCR

Sequence length

455

Interactions

View interactions

	KEGG
	Cytokine-cytokine receptor interaction TGF-beta signaling pathway Hippo signaling pathway

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Leber Congenital Amaurosis	leber congenital amaurosis 17	rs1401531865	N/A
Multiple Synostoses Syndrome	multiple synostoses syndrome 4	rs1554571213	N/A

Show/Hide Unknown Diseases (6)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Congenital anomalies of kidney and urinary tract	Congenital anomaly of kidney and urinary tract	N/A	N/A	ClinVar
Diabetes	Type 2 diabetes	N/A	N/A	GWAS
Isolated Klippel-Feil Syndrome	isolated Klippel-Feil syndrome	N/A	N/A	GenCC
Klippel Feil syndrome	Klippel-Feil syndrome 1, autosomal dominant, klippel-feil syndrome	N/A	N/A	ClinVar, GenCC
Microphthalmia	isolated microphthalmia 4, microphthalmia	N/A	N/A	GenCC
Microphthalmia With Coloboma	microphthalmia, isolated, with coloboma 6	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (21)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Alzheimer Disease	Associate	24618041
Anophthalmos	Associate	21203406
Carcinoma Hepatocellular	Associate	37446238
Colorectal Neoplasms	Associate	32407802
Eye Abnormalities	Associate	25457163
Fibrocartilaginous embolism	Stimulate	24618041
Fibrocartilaginous embolism	Associate	31066515
Granuloma Annulare	Inhibit	26134557
Klippel Feil Syndrome	Associate	19240811, 23620759, 26238661, 32278351
Macular Degeneration	Associate	25416513
Microphthalmos	Associate	25457163
Myocardial Ischemia	Associate	34319658
Neoplasm Metastasis	Associate	35280443
Neoplasms	Associate	32407802
NOG Related Symphalangism Spectrum Disorder	Associate	34573339
Otosclerosis	Associate	34573339
Pancreatitis Chronic	Inhibit	30680957
Polypoidal Choroidal Vasculopathy	Associate	25416513
Speech Disorders	Associate	34573339
Synostosis	Associate	34573339
Thyroid cancer medullary	Associate	35280443

GDF6 (growth differentiation factor 6)