GDF11 (growth differentiation factor 11) - Rat Genome Database

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Gene: GDF11 (growth differentiation factor 11) Homo sapiens
Analyze
Symbol: GDF11
Name: growth differentiation factor 11
RGD ID: 731907
HGNC Page HGNC:4216
Description: Predicted to enable cytokine activity. Involved in activin receptor signaling pathway and positive regulation of SMAD protein signal transduction. Located in nucleoplasm. Part of protein-containing complex. Implicated in vertebral hypersegmentation and orofacial anomalies.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: BMP-11; BMP11; bone morphogenetic protein 11; GDF-11; growth/differentiation factor 11; VHO
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381255,743,122 - 55,757,264 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1255,743,122 - 55,757,264 (+)EnsemblGRCh38hg38GRCh38
GRCh371256,136,906 - 56,151,048 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361254,423,331 - 54,430,332 (+)NCBINCBI36Build 36hg18NCBI36
Build 341254,423,333 - 54,430,332NCBI
Celera1255,789,534 - 55,799,135 (+)NCBICelera
Cytogenetic Map12q13.2NCBI
HuRef1253,175,916 - 53,185,626 (+)NCBIHuRef
CHM1_11256,103,813 - 56,113,414 (+)NCBICHM1_1
T2T-CHM13v2.01255,709,757 - 55,723,906 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Systemic Blockade of ACVR2B Ligands Protects Myocardium from Acute Ischemia-Reperfusion Injury. Magga J, etal., Mol Ther. 2019 Mar 6;27(3):600-610. doi: 10.1016/j.ymthe.2019.01.013. Epub 2019 Jan 24.
3. Online Mendelian Inheritance in Man, OMIM (TM). Online Mendelian Inheritance in Man, OMIM (TM).
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
Additional References at PubMed
PMID:8889549   PMID:10075854   PMID:10391213   PMID:10508689   PMID:14702039   PMID:15988002   PMID:16845371   PMID:17912435   PMID:17997109   PMID:18519639   PMID:18535106   PMID:18596030  
PMID:19751112   PMID:20734064   PMID:21054789   PMID:21873635   PMID:24019467   PMID:24244313   PMID:24658077   PMID:25352416   PMID:25534870   PMID:26001423   PMID:26026854   PMID:26186194  
PMID:26383970   PMID:26919518   PMID:27034275   PMID:27304512   PMID:27509407   PMID:27557752   PMID:28126904   PMID:28257634   PMID:28472635   PMID:28514442   PMID:28701523   PMID:28715204  
PMID:29161592   PMID:29680737   PMID:29731621   PMID:30165829   PMID:30213293   PMID:30281844   PMID:30661170   PMID:30684534   PMID:30727851   PMID:30883611   PMID:30889293   PMID:30890427  
PMID:30897065   PMID:31038259   PMID:31120107   PMID:31144559   PMID:31181098   PMID:31215115   PMID:31292540   PMID:31315975   PMID:31418854   PMID:31586073   PMID:31767630   PMID:31818357  
PMID:32035222   PMID:32396235   PMID:32460013   PMID:32592621   PMID:32759740   PMID:32845070   PMID:33126224   PMID:33174245   PMID:33684566   PMID:33728018   PMID:33883893   PMID:33961781  
PMID:34113007   PMID:34417839   PMID:35183204   PMID:35524286   PMID:35597155   PMID:35705978   PMID:35920128   PMID:36027600   PMID:36094432   PMID:36584866   PMID:37011872   PMID:37356738  
PMID:37480123   PMID:37742057   PMID:37801347   PMID:37905957   PMID:38143761   PMID:38369181   PMID:39237910  


Genomics

Comparative Map Data
GDF11
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381255,743,122 - 55,757,264 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1255,743,122 - 55,757,264 (+)EnsemblGRCh38hg38GRCh38
GRCh371256,136,906 - 56,151,048 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361254,423,331 - 54,430,332 (+)NCBINCBI36Build 36hg18NCBI36
Build 341254,423,333 - 54,430,332NCBI
Celera1255,789,534 - 55,799,135 (+)NCBICelera
Cytogenetic Map12q13.2NCBI
HuRef1253,175,916 - 53,185,626 (+)NCBIHuRef
CHM1_11256,103,813 - 56,113,414 (+)NCBICHM1_1
T2T-CHM13v2.01255,709,757 - 55,723,906 (+)NCBIT2T-CHM13v2.0
Gdf11
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3910128,716,393 - 128,727,587 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl10128,718,164 - 128,727,587 (-)EnsemblGRCm39 Ensembl
GRCm3810128,880,524 - 128,891,718 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl10128,882,295 - 128,891,718 (-)EnsemblGRCm38mm10GRCm38
MGSCv3710128,321,602 - 128,328,774 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3610128,287,495 - 128,294,634 (-)NCBIMGSCv36mm8
Celera10131,277,119 - 131,314,308 (-)NCBICelera
Cytogenetic Map10D3NCBI
cM Map1077.18NCBI
Gdf11
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr871,896,229 - 1,909,147 (-)NCBIGRCr8
mRatBN7.271,311,732 - 1,325,211 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl71,311,732 - 1,320,725 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx74,076,094 - 4,085,087 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.075,951,755 - 5,960,748 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.076,253,020 - 6,262,013 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.073,306,863 - 3,315,856 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl73,306,863 - 3,315,856 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.073,277,923 - 3,286,916 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.472,182,467 - 2,191,454 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.172,185,253 - 2,191,265 (-)NCBI
Celera71,182,487 - 1,191,452 (-)NCBICelera
Cytogenetic Map7q11NCBI
Gdf11
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554583,388,402 - 3,398,040 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554583,388,402 - 3,398,040 (+)NCBIChiLan1.0ChiLan1.0
GDF11
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21038,571,240 - 38,585,080 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11238,568,010 - 38,581,811 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01233,154,530 - 33,168,427 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11233,879,143 - 33,893,027 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1233,879,180 - 33,893,252 (-)Ensemblpanpan1.1panPan2
GDF11
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.110142,039 - 152,537 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl10145,036 - 148,373 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha10202,146 - 211,966 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.010147,013 - 159,810 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl10147,013 - 153,803 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.110124,694 - 137,481 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.010367,790 - 377,596 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.010491,709 - 504,497 (+)NCBIUU_Cfam_GSD_1.0
Gdf11
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494558,643,209 - 58,655,134 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936646216,946 - 224,321 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936646215,101 - 227,296 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GDF11
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl521,191,251 - 21,201,804 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1521,191,322 - 21,199,024 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2522,671,244 - 22,678,880 (+)NCBISscrofa10.2Sscrofa10.2susScr3
GDF11
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11151,693,664 - 51,702,781 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1151,693,717 - 51,700,278 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666037194,292,055 - 194,300,722 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Gdf11
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462480212,259,971 - 12,269,440 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GDF11
17 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33
pathogenic
GRCh38/hg38 12q13.13-13.3(chr12:53420606-56202942)x3 copy number gain See cases [RCV000141435] Chr12:53420606..56202942 [GRCh38]
Chr12:53814390..56596726 [GRCh37]
Chr12:52100657..54882993 [NCBI36]
Chr12:12q13.13-13.3
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic|likely pathogenic
NM_005811.5(GDF11):c.1008C>G (p.Tyr336Ter) single nucleotide variant GDF11-associated multiple congenital anomalies and ID [RCV000626007] Chr12:55749666 [GRCh38]
Chr12:56143450 [GRCh37]
Chr12:12q13.2
uncertain significance
GRCh37/hg19 12q13.2(chr12:55975308-56593032)x3 copy number gain See cases [RCV000446219] Chr12:55975308..56593032 [GRCh37]
Chr12:12q13.2
uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12q13.2-14.1(chr12:55552371-62126304)x3 copy number gain not provided [RCV001006505] Chr12:55552371..62126304 [GRCh37]
Chr12:12q13.2-14.1
pathogenic
NM_005811.5(GDF11):c.893G>A (p.Arg298Gln) single nucleotide variant Orofacial cleft [RCV001261824]|Vertebral hypersegmentation and orofacial anomalies [RCV001270146] Chr12:55749551 [GRCh38]
Chr12:56143335 [GRCh37]
Chr12:12q13.2
pathogenic|likely pathogenic
NM_005811.5(GDF11):c.1004G>A (p.Arg335His) single nucleotide variant Vertebral hypersegmentation and orofacial anomalies [RCV002277632] Chr12:55749662 [GRCh38]
Chr12:56143446 [GRCh37]
Chr12:12q13.2
uncertain significance
GRCh37/hg19 12q13.2(chr12:55975308-56593032) copy number gain not specified [RCV002052996] Chr12:55975308..56593032 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_005811.5(GDF11):c.916G>A (p.Glu306Lys) single nucleotide variant Vertebral hypersegmentation and orofacial anomalies [RCV001837734] Chr12:55749574 [GRCh38]
Chr12:56143358 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_005811.5(GDF11):c.379G>A (p.Glu127Lys) single nucleotide variant not specified [RCV003123454] Chr12:55743695 [GRCh38]
Chr12:56137479 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_005811.5(GDF11):c.154G>T (p.Ala52Ser) single nucleotide variant not provided [RCV004588646] Chr12:55743470 [GRCh38]
Chr12:56137254 [GRCh37]
Chr12:12q13.2
uncertain significance
GRCh37/hg19 12q13.2(chr12:56056806-56438901)x3 copy number gain not provided [RCV002472408] Chr12:56056806..56438901 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_005811.5(GDF11):c.442G>C (p.Glu148Gln) single nucleotide variant not specified [RCV004113649] Chr12:55743758 [GRCh38]
Chr12:56137542 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_005811.5(GDF11):c.724C>G (p.Gln242Glu) single nucleotide variant not specified [RCV004128945] Chr12:55748864 [GRCh38]
Chr12:56142648 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_005811.5(GDF11):c.811G>A (p.Val271Ile) single nucleotide variant not specified [RCV004130677] Chr12:55748951 [GRCh38]
Chr12:56142735 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_005811.5(GDF11):c.62G>C (p.Arg21Pro) single nucleotide variant not specified [RCV004162753] Chr12:55743378 [GRCh38]
Chr12:56137162 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_005811.5(GDF11):c.835G>A (p.Glu279Lys) single nucleotide variant not specified [RCV004235397] Chr12:55748975 [GRCh38]
Chr12:56142759 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_005811.5(GDF11):c.722A>C (p.Lys241Thr) single nucleotide variant not specified [RCV004356661] Chr12:55748862 [GRCh38]
Chr12:56142646 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_005811.5(GDF11):c.629G>T (p.Gly210Val) single nucleotide variant GDF11-related disorder [RCV003939693] Chr12:55748769 [GRCh38]
Chr12:56142553 [GRCh37]
Chr12:12q13.2
likely benign
NM_005811.5(GDF11):c.87GGC[9] (p.Ala41del) microsatellite GDF11-related disorder [RCV003962262] Chr12:55743401..55743403 [GRCh38]
Chr12:56137185..56137187 [GRCh37]
Chr12:12q13.2
likely benign
NM_005811.5(GDF11):c.87GGC[7] (p.Ala39_Ala41del) microsatellite GDF11-related disorder [RCV003903955] Chr12:55743401..55743409 [GRCh38]
Chr12:56137185..56137193 [GRCh37]
Chr12:12q13.2
likely benign
NM_005811.5(GDF11):c.692G>A (p.Arg231His) single nucleotide variant not specified [RCV004387578] Chr12:55748832 [GRCh38]
Chr12:56142616 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_005811.5(GDF11):c.303dup (p.Gln102fs) duplication Vertebral hypersegmentation and orofacial anomalies [RCV003991251] Chr12:55743618..55743619 [GRCh38]
Chr12:56137402..56137403 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_005811.5(GDF11):c.637G>A (p.Gly213Ser) single nucleotide variant not specified [RCV004307800] Chr12:55748777 [GRCh38]
Chr12:56142561 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_005811.5(GDF11):c.625G>A (p.Ala209Thr) single nucleotide variant not specified [RCV004282547] Chr12:55748765 [GRCh38]
Chr12:56142549 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_005811.5(GDF11):c.967G>C (p.Glu323Gln) single nucleotide variant not specified [RCV004352687] Chr12:55749625 [GRCh38]
Chr12:56143409 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_005811.5(GDF11):c.295G>A (p.Val99Met) single nucleotide variant not specified [RCV004354060] Chr12:55743611 [GRCh38]
Chr12:56137395 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_005811.5(GDF11):c.419A>C (p.Glu140Ala) single nucleotide variant not specified [RCV004626830] Chr12:55743735 [GRCh38]
Chr12:56137519 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_005811.5(GDF11):c.921C>G (p.His307Gln) single nucleotide variant not specified [RCV004626828] Chr12:55749579 [GRCh38]
Chr12:56143363 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_005811.5(GDF11):c.628G>C (p.Gly210Arg) single nucleotide variant not specified [RCV004626829] Chr12:55748768 [GRCh38]
Chr12:56142552 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_005811.5(GDF11):c.748C>T (p.Gln250Ter) single nucleotide variant not provided [RCV004762592]   uncertain significance
NM_005811.5(GDF11):c.110_124dup (p.Ala41_Gly42insAlaAlaAlaAlaAla) duplication not provided [RCV004761406]   uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1619
Count of miRNA genes:803
Interacting mature miRNAs:986
Transcripts:ENST00000257868, ENST00000546799
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.

Markers in Region
RH47413  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371256,145,420 - 56,145,544UniSTSGRCh37
Build 361254,431,687 - 54,431,811RGDNCBI36
Celera1255,797,890 - 55,798,014RGD
Cytogenetic Map12q13.2UniSTS
HuRef1253,184,380 - 53,184,504UniSTS
GeneMap99-GB4 RH Map12241.62UniSTS
RH99137  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371256,145,900 - 56,146,054UniSTSGRCh37
Build 361254,432,167 - 54,432,321RGDNCBI36
Celera1255,798,370 - 55,798,524RGD
Cytogenetic Map12q13.2UniSTS
HuRef1253,184,860 - 53,185,014UniSTS
GeneMap99-GB4 RH Map12241.62UniSTS
GDF11_2359  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371256,143,480 - 56,144,151UniSTSGRCh37
Build 361254,429,747 - 54,430,418RGDNCBI36
Celera1255,795,950 - 55,796,621RGD
HuRef1253,182,440 - 53,183,111UniSTS
A008V16  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371256,143,941 - 56,144,041UniSTSGRCh37
Build 361254,430,208 - 54,430,308RGDNCBI36
Celera1255,796,411 - 55,796,511RGD
Cytogenetic Map12q13.2UniSTS
HuRef1253,182,901 - 53,183,001UniSTS
GeneMap99-GB4 RH Map12245.84UniSTS
MARC_41381-41054:1084804684:3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371256,137,092 - 56,137,510UniSTSGRCh37
Build 361254,423,359 - 54,423,777RGDNCBI36
Celera1255,789,562 - 55,789,980RGD
HuRef1253,175,938 - 53,176,356UniSTS
SGC34566  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371256,145,532 - 56,145,634UniSTSGRCh37
Build 361254,431,799 - 54,431,901RGDNCBI36
Celera1255,798,002 - 55,798,104RGD
Cytogenetic Map12q13.2UniSTS
HuRef1253,184,492 - 53,184,594UniSTS
GeneMap99-GB4 RH Map12246.54UniSTS
Whitehead-RH Map12312.6UniSTS
RH78293  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371256,143,961 - 56,144,119UniSTSGRCh37
Build 361254,430,228 - 54,430,386RGDNCBI36
Celera1255,796,431 - 55,796,589RGD
Cytogenetic Map12q13.2UniSTS
HuRef1253,182,921 - 53,183,079UniSTS
GeneMap99-GB4 RH Map12245.84UniSTS
WI-16726  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371256,144,019 - 56,144,145UniSTSGRCh37
Build 361254,430,286 - 54,430,412RGDNCBI36
Celera1255,796,489 - 55,796,615RGD
Cytogenetic Map12q13.2UniSTS
HuRef1253,182,979 - 53,183,105UniSTS
GeneMap99-GB4 RH Map12246.17UniSTS
Whitehead-RH Map12312.7UniSTS
Gdf11  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371256,142,414 - 56,143,431UniSTSGRCh37
Celera1255,794,884 - 55,795,901UniSTS
HuRef1253,181,374 - 53,182,391UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2438 2788 2252 4973 1726 2351 5 624 1951 465 2269 7304 6470 53 3734 1 852 1744 1617 174 1

Sequence


Ensembl Acc Id: ENST00000257868   ⟹   ENSP00000257868
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1255,743,122 - 55,757,264 (+)Ensembl
Ensembl Acc Id: ENST00000546799   ⟹   ENSP00000448390
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1255,743,399 - 55,757,127 (+)Ensembl
RefSeq Acc Id: NM_005811   ⟹   NP_005802
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381255,743,122 - 55,757,264 (+)NCBI
GRCh371256,137,064 - 56,146,665 (+)RGD
Build 361254,423,331 - 54,430,332 (+)NCBI Archive
Celera1255,789,534 - 55,799,135 (+)RGD
HuRef1253,175,916 - 53,185,626 (+)RGD
CHM1_11256,103,813 - 56,113,414 (+)NCBI
T2T-CHM13v2.01255,709,757 - 55,723,906 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006719194   ⟹   XP_006719257
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381255,743,122 - 55,757,130 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054370764   ⟹   XP_054226739
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01255,709,757 - 55,723,772 (+)NCBI
RefSeq Acc Id: NP_005802   ⟸   NM_005811
- Peptide Label: preproprotein
- UniProtKB: Q9UID1 (UniProtKB/Swiss-Prot),   Q9UID2 (UniProtKB/Swiss-Prot),   O95390 (UniProtKB/Swiss-Prot),   H0YI30 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006719257   ⟸   XM_006719194
- Peptide Label: isoform X1
- UniProtKB: Q9UID1 (UniProtKB/Swiss-Prot),   Q9UID2 (UniProtKB/Swiss-Prot),   O95390 (UniProtKB/Swiss-Prot),   H0YI30 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000257868   ⟸   ENST00000257868
Ensembl Acc Id: ENSP00000448390   ⟸   ENST00000546799
RefSeq Acc Id: XP_054226739   ⟸   XM_054370764
- Peptide Label: isoform X1
- UniProtKB: Q9UID1 (UniProtKB/Swiss-Prot),   O95390 (UniProtKB/Swiss-Prot),   Q9UID2 (UniProtKB/Swiss-Prot)
Protein Domains
TGF-beta family profile

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O95390-F1-model_v2 AlphaFold O95390 1-407 view protein structure

Promoters
RGD ID:6790067
Promoter ID:HG_KWN:15854
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_005811
Position:
Human AssemblyChrPosition (strand)Source
Build 361254,422,891 - 54,423,792 (+)MPROMDB
RGD ID:7224315
Promoter ID:EPDNEW_H17903
Type:initiation region
Name:GDF11_1
Description:growth differentiation factor 11
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17904  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381255,743,292 - 55,743,352EPDNEW
RGD ID:7224317
Promoter ID:EPDNEW_H17904
Type:initiation region
Name:GDF11_2
Description:growth differentiation factor 11
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17903  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381255,743,406 - 55,743,466EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4216 AgrOrtholog
COSMIC GDF11 COSMIC
Ensembl Genes ENSG00000135414 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000257868 ENTREZGENE
  ENST00000257868.10 UniProtKB/Swiss-Prot
  ENST00000546799 ENTREZGENE
  ENST00000546799.1 UniProtKB/TrEMBL
Gene3D-CATH 2.10.90.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.120.970 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000135414 GTEx
HGNC ID HGNC:4216 ENTREZGENE
Human Proteome Map GDF11 Human Proteome Map
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 hsa:10220 UniProtKB/Swiss-Prot
NCBI Gene 10220 ENTREZGENE
OMIM 603936 OMIM
PANTHER GROWTH/DIFFERENTIATION FACTOR 11 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
PharmGKB GDF11 RGD, PharmGKB
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 GDF11_HUMAN UniProtKB/Swiss-Prot
  H0YI30 ENTREZGENE, UniProtKB/TrEMBL
  O95390 ENTREZGENE
  Q9UID1 ENTREZGENE
  Q9UID2 ENTREZGENE
UniProt Secondary Q9UID1 UniProtKB/Swiss-Prot
  Q9UID2 UniProtKB/Swiss-Prot