Gdf6 (growth differentiation factor 6) - Rat Genome Database

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Gene: Gdf6 (growth differentiation factor 6) Mus musculus
Analyze
Symbol: Gdf6
Name: growth differentiation factor 6
RGD ID: 1550536
MGI Page MGI
Description: Enables identical protein binding activity. Involved in several processes, including SMAD protein signal transduction; fat cell differentiation; and positive regulation of p38MAPK cascade. Acts upstream of or within with a positive effect on cell migration involved in metanephros development and epithelial cell migration. Acts upstream of or within BMP signaling pathway and positive regulation of neuron differentiation. Located in extracellular space. Is expressed in several structures, including craniocervical region bone; ganglia; limb; respiratory system cartilage; and sensory organ. Human ortholog(s) of this gene implicated in Leber congenital amaurosis 17; bone disease (multiple); cleft lip; cleft palate; and isolated microphthalmia 4. Orthologous to human GDF6 (growth differentiation factor 6).
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: BMP-13; BMP1; BMP13; bone morphogenetic protein 13; GDF-6; GDF16; growth differentiation factor 16; growth/differentiation factor 16; growth/differentiation factor 6
RGD Orthologs
Human
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Latest Assembly: GRCm39 - Mouse Genome Assembly GRCm39
Position:
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3949,844,372 - 9,862,345 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl49,844,372 - 9,862,345 (+)EnsemblGRCm39 Ensembl
GRCm3849,844,372 - 9,862,345 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl49,844,372 - 9,862,345 (+)EnsemblGRCm38mm10GRCm38
MGSCv3749,771,519 - 9,789,492 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3649,771,519 - 9,789,492 (+)NCBIMGSCv36mm8
Celera49,660,031 - 9,677,998 (+)NCBICelera
Cytogenetic Map4A1NCBI
cM Map44.35NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Mammalian Phenotype
abnormal articular cartilage morphology  (IAGP)
abnormal brain morphology  (IEA)
abnormal carpal bone morphology  (IAGP)
abnormal digit morphology  (IEA)
abnormal hearing physiology  (IEA)
abnormal incudomalleolar joint morphology  (IAGP)
abnormal incudostapedial joint morphology  (IAGP)
abnormal incus morphology  (IAGP)
abnormal malleus morphology  (IAGP)
abnormal metatarsal bone morphology  (IAGP)
abnormal middle ear ossicle morphology  (IAGP)
abnormal optic disk morphology  (IEA)
abnormal phalanx morphology  (IAGP)
abnormal retina blood vessel morphology  (IEA)
abnormal retina morphology  (IEA)
abnormal skeleton morphology  (IEA)
abnormal spleen morphology  (IEA)
abnormal stapes annular ligament morphology  (IAGP)
abnormal stapes morphology  (IAGP)
abnormal tarsal bone morphology  (IAGP)
abnormal thymus morphology  (IEA)
abnormal vertebral articular process morphology  (IAGP)
abnormal vertebral spinous process morphology  (IAGP)
absent coronal suture  (IAGP)
absent stapes annular ligament  (IAGP)
absent talus  (IAGP)
bowed radius  (IAGP)
decreased body weight  (IEA)
delayed bone ossification  (IAGP)
enlarged spleen  (IEA)
enlarged thymus  (IEA)
fused carpal bones  (IAGP)
fused joints  (IAGP)
fused tarsal bones  (IAGP)
hydrocephaly  (IEA)
increased lung tissue damping  (IEA)
postnatal growth retardation  (IEA)
postnatal lethality  (IEA)
postnatal lethality, incomplete penetrance  (IAGP)
premature death  (IAGP)
preweaning lethality, complete penetrance  (IEA)
scoliosis  (IAGP)
short ulna  (IAGP)
small incus  (IAGP)
small malleus  (IAGP)
small middle ear ossicles  (IAGP)
small stapes  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Genomic screening identifies novel linkages and provides further evidence for a role of MYH9 in nonsyndromic cleft lip and palate. Chiquet BT, etal., Eur J Hum Genet. 2009 Feb;17(2):195-204. doi: 10.1038/ejhg.2008.149. Epub 2008 Aug 20.
2. MGDs mouse GO annotations MGD data from the GO Consortium
3. MGD IEA MGD IEA
4. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
5. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
6. Mouse MP Annotation Import Pipeline RGD automated import pipeline
7. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
8. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8145850   PMID:9786991   PMID:9808626   PMID:10022976   PMID:12477932   PMID:12606286   PMID:12915490   PMID:14973294   PMID:15342483   PMID:16049014   PMID:16104381   PMID:16602821  
PMID:19129173   PMID:19248159   PMID:19389359   PMID:19492402   PMID:19815519   PMID:21267068   PMID:21677750   PMID:21873635   PMID:22049084   PMID:22560297   PMID:22693558   PMID:23307924  
PMID:23527555   PMID:24006456   PMID:24380493   PMID:24952961   PMID:25792196   PMID:25859222   PMID:26774823   PMID:27311402   PMID:29031500   PMID:32369452   PMID:32737436   PMID:33127760  
PMID:33795231   PMID:35442524   PMID:36744814  


Genomics

Comparative Map Data
Gdf6
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3949,844,372 - 9,862,345 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl49,844,372 - 9,862,345 (+)EnsemblGRCm39 Ensembl
GRCm3849,844,372 - 9,862,345 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl49,844,372 - 9,862,345 (+)EnsemblGRCm38mm10GRCm38
MGSCv3749,771,519 - 9,789,492 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3649,771,519 - 9,789,492 (+)NCBIMGSCv36mm8
Celera49,660,031 - 9,677,998 (+)NCBICelera
Cytogenetic Map4A1NCBI
cM Map44.35NCBI
GDF6
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38896,142,333 - 96,160,806 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl896,142,333 - 96,160,806 (-)EnsemblGRCh38hg38GRCh38
GRCh37897,154,561 - 97,173,034 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36897,223,734 - 97,242,196 (-)NCBINCBI36Build 36hg18NCBI36
Build 34897,223,737 - 97,242,196NCBI
Celera893,340,541 - 93,359,001 (-)NCBICelera
Cytogenetic Map8q22.1NCBI
HuRef892,360,118 - 92,378,582 (-)NCBIHuRef
CHM1_1897,194,809 - 97,213,265 (-)NCBICHM1_1
T2T-CHM13v2.0897,267,652 - 97,286,137 (-)NCBIT2T-CHM13v2.0
Gdf6
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8527,793,561 - 27,809,884 (+)NCBIGRCr8
mRatBN7.2522,996,246 - 23,012,567 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl522,996,246 - 23,012,567 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx525,230,195 - 25,246,549 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0526,816,190 - 26,832,510 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0526,596,487 - 26,612,805 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0523,056,345 - 23,072,666 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl523,056,347 - 23,074,599 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0527,786,775 - 27,803,096 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4523,739,175 - 23,756,140 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1523,755,784 - 23,755,986 (+)NCBI
Celera522,249,415 - 22,265,738 (+)NCBICelera
Cytogenetic Map5q13NCBI
Gdf6
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541712,152,448 - 12,169,362 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541712,152,448 - 12,169,173 (-)NCBIChiLan1.0ChiLan1.0
GDF6
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v27113,474,794 - 113,493,871 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1889,013,655 - 89,032,096 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0892,767,401 - 92,785,955 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1894,965,399 - 94,984,456 (-)NCBIpanpan1.1PanPan1.1panPan2
GDF6
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12940,676,851 - 40,694,174 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2940,676,851 - 40,694,174 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2940,676,851 - 40,694,174 (-)NCBICanFam3.1canFam3CanFam3.1
ROS_Cfam_1.02940,868,628 - 40,885,256 (-)NCBIROS_Cfam_1.0
UNSW_CanFamBas_1.02940,880,805 - 40,897,837 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02941,342,023 - 41,361,005 (-)NCBIUU_Cfam_GSD_1.0
Gdf6
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530338,894,428 - 38,952,490 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647046,361,451 - 46,377,594 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647046,361,528 - 46,379,576 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GDF6
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl440,472,935 - 40,490,033 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1440,473,015 - 40,491,142 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
GDF6
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1891,105,663 - 91,124,059 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl891,107,857 - 91,123,874 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603949,663,846 - 49,682,176 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Gdf6
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247633,474,671 - 3,490,297 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247633,473,047 - 3,490,346 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in Gdf6
506 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:679
Count of miRNA genes:441
Interacting mature miRNAs:517
Transcripts:ENSMUST00000057613
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCm39)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
11049579Lmr9b_mleishmaniasis resistance 9b (mouse)4120657234Mouse
11049580Lmr9a_mleishmaniasis resistance 9 (mouse)4120657234Mouse
1301274Lmr9_mleishmaniasis resistance 9 (mouse)Not determined4120657234Mouse
10412079Sm1_msusceptibility to Schistosoma mansoni infection 1 (mouse)Not determined4122955614Mouse
1301510Bbaa13_mB.burgdorferi-associated arthritis 13 (mouse)Not determined4126395649Mouse
11567249Elorr3_methanol induced loss of righting response 3 (mouse)43722677156268235Mouse
1302010Wta1_mweight adult 1 (mouse)Not determined4868324042683429Mouse
1558992Ses8_msalmonella enteritidis susceptibility 8 (mouse)Not determined4868324042683429Mouse
1301473Triglq1_mtriglyceride QTL 1 (mouse)Not determined4868324042683429Mouse
1302125Lxw1_mlupus BXSB x NZW 1 (mouse)Not determined4868324042683429Mouse
4141302Ssrq5_mstress response QTL 5 (mouse)Not determined868324042683430Mouse
10401905Sicd3_mseizure-induced cell death 3 (mouse)Not determined4939552543760862Mouse

Markers in Region
Gdf6  
Mouse AssemblyChrPosition (strand)SourceJBrowse
MGSCv3749,787,160 - 9,787,263UniSTSGRCm37
MGSCv3749,787,435 - 9,787,738UniSTSGRCm37
Celera49,675,941 - 9,676,244UniSTS
Celera49,675,666 - 9,675,769UniSTS
Cytogenetic Map4A1UniSTS
cM Map4 UniSTS
Gdf6  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm3849,860,013 - 9,860,116UniSTSGRCm38
MGSCv3749,787,160 - 9,787,263UniSTSGRCm37
Celera49,675,666 - 9,675,769UniSTS
Cytogenetic Map4A1UniSTS
Gdf6  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm3849,860,288 - 9,860,591UniSTSGRCm38
MGSCv3749,787,435 - 9,787,738UniSTSGRCm37
Celera49,675,941 - 9,676,244UniSTS
Cytogenetic Map4A1UniSTS


Expression


Sequence


Reference Sequences
RefSeq Acc Id: ENSMUST00000057613   ⟹   ENSMUSP00000062884
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl49,844,372 - 9,862,345 (+)Ensembl
GRCm38.p6 Ensembl49,844,372 - 9,862,345 (+)Ensembl
RefSeq Acc Id: NM_013526   ⟹   NP_038554
RefSeq Status: REVIEWED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm3949,844,372 - 9,862,345 (+)NCBI
GRCm3849,844,372 - 9,862,345 (+)ENTREZGENE
MGSCv3749,771,519 - 9,789,492 (+)RGD
Celera49,660,031 - 9,677,998 (+)RGD
cM Map4 ENTREZGENE
Sequence:
Protein Sequences
Protein RefSeqs NP_038554 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA18779 (Get FASTA)   NCBI Sequence Viewer  
  AAI41340 (Get FASTA)   NCBI Sequence Viewer  
  AAI41341 (Get FASTA)   NCBI Sequence Viewer  
  CAD60935 (Get FASTA)   NCBI Sequence Viewer  
  EDL05665 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSMUSP00000062884
  ENSMUSP00000062884.3
GenBank Protein P43028 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_038554   ⟸   NM_013526
- Peptide Label: preproprotein
- UniProtKB: Q70UT4 (UniProtKB/Swiss-Prot),   P43028 (UniProtKB/Swiss-Prot),   A2AII0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSMUSP00000062884   ⟸   ENSMUST00000057613
Protein Domains
TGF-beta family profile

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P43028-F1-model_v2 AlphaFold P43028 1-454 view protein structure

Promoters
RGD ID:6882792
Promoter ID:EPDNEW_M4847
Type:initiation region
Name:Gdf6_1
Description:Mus musculus growth differentiation factor 6 , mRNA.
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm3849,844,408 - 9,844,468EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene MGI:95689 AgrOrtholog
Ensembl Genes ENSMUSG00000051279 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENSMUST00000057613 ENTREZGENE
  ENSMUST00000057613.3 UniProtKB/Swiss-Prot
Gene3D-CATH 2.10.90.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.120.970 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
InterPro Cystine-knot_cytokine UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TGF-b_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TGF-b_propeptide UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TGF-beta-rel UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TGFb_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report mmu:242316 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
MGD MGI:95689 ENTREZGENE
NCBI Gene 242316 ENTREZGENE
PANTHER GROWTH/DIFFERENTIATION FACTOR 6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11848 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam TGF_beta UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TGFb_propeptide UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PhenoGen Gdf6 PhenoGen
PRINTS INHIBINA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE TGF_BETA_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TGF_BETA_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART TGFB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF57501 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A2AII0 ENTREZGENE, UniProtKB/TrEMBL
  GDF6_MOUSE UniProtKB/Swiss-Prot, ENTREZGENE
  Q70UT4 ENTREZGENE
UniProt Secondary Q70UT4 UniProtKB/Swiss-Prot