BMP6 (bone morphogenetic protein 6) - Rat Genome Database

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Gene: BMP6 (bone morphogenetic protein 6) Homo sapiens
Analyze
Symbol: BMP6
Name: bone morphogenetic protein 6
RGD ID: 1353193
HGNC Page HGNC
Description: Exhibits BMP receptor binding activity and protein heterodimerization activity. Involved in several processes, including negative regulation of adherens junction organization; positive regulation of cellular metabolic process; and transmembrane receptor protein serine/threonine kinase signaling pathway. Predicted to localize to extracellular space. Biomarker of breast cancer; esophagus squamous cell carcinoma; prostate cancer; and renal cell carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: BMP-6; vegetal related growth factor (TGFB-related); vegetal-related (TGFB related) cytokine; VG-1-R; VG-1-related protein; Vg1-related sequence; VGR; VGR-1; VGR1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: BMP6P1  
Allele / Splice: See ClinVar data
Is Marker For: QTLs:   BMD4_H   BW324_H  
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl67,726,099 - 7,881,728 (+)EnsemblGRCh38hg38GRCh38
GRCh3867,726,099 - 7,881,728 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3767,726,332 - 7,881,961 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3667,672,010 - 7,826,960 (+)NCBINCBI36hg18NCBI36
Build 3467,672,008 - 7,826,726NCBI
Celera68,956,438 - 9,111,399 (+)NCBI
Cytogenetic Map6p24.3NCBI
HuRef67,604,128 - 7,759,039 (+)NCBIHuRef
CHM1_167,728,829 - 7,884,079 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1-chloro-2,4-dinitrobenzene  (EXP)
1-phenyl-1-cyclopentanecarboxylic acid 2-[2-(diethylamino)ethoxy]ethyl ester  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,6-dinitrotoluene  (ISO)
2-amino-2-deoxy-D-glucopyranose  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',5-triiodo-L-thyronine  (EXP)
3,4-dichloroaniline  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-aminosalicylic acid  (EXP)
5-aza-2'-deoxycytidine  (EXP,ISO)
6-propyl-2-thiouracil  (ISO)
8-Br-cAMP  (EXP)
acetylsalicylic acid  (EXP)
aflatoxin B1  (ISO)
aflatoxin B2  (EXP)
aldehydo-D-glucosamine  (ISO)
all-trans-retinoic acid  (EXP)
alpidem  (EXP)
aluminium oxide  (EXP)
ammonium chloride  (ISO)
amodiaquine  (EXP)
apomorphine  (EXP)
arsenite(3-)  (EXP)
atropine  (ISO)
Benzamil  (EXP)
benzatropine  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
beta-D-glucosamine  (ISO)
biperiden  (EXP)
bis(2-chloroethyl) sulfide  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP,ISO)
bromfenac  (EXP)
butanal  (EXP)
Butylbenzyl phthalate  (ISO)
Calcimycin  (EXP)
calcitriol  (EXP)
cannabidiol  (ISO)
carbamazepine  (EXP)
carbon nanotube  (EXP,ISO)
CGS 15943  (EXP)
cobalt dichloride  (EXP)
colforsin daropate hydrochloride  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
corticosterone  (ISO)
cyclosporin A  (EXP)
DAPT  (EXP)
decabromodiphenyl ether  (ISO)
desferrioxamine B  (EXP)
dexamethasone  (EXP)
diazinon  (ISO)
dibutyl phthalate  (ISO)
diclofenac  (EXP,ISO)
dioxygen  (ISO)
dipentyl phthalate  (ISO)
diphenhydramine  (EXP)
dipotassium bis[mu-tartrato(4-)]diantimonate(2-) trihydrate  (EXP)
diuron  (EXP,ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
ellagic acid  (EXP)
esculetin  (ISO)
esmolol  (EXP)
ethambutol  (EXP)
ethanol  (EXP,ISO)
etodolac  (EXP)
etoposide  (EXP)
eugenol  (EXP)
fenvalerate  (ISO)
ferric ammonium citrate  (EXP)
fludrocortisone  (EXP)
flutamide  (EXP)
folic acid  (ISO)
folpet  (ISO)
gentamycin  (ISO)
geraniol  (EXP)
heparin  (EXP)
indometacin  (EXP)
Iproniazid  (EXP)
iron atom  (ISO)
iron(0)  (ISO)
ketoconazole  (EXP)
levofloxacin  (EXP)
lipopolysaccharide  (EXP,ISO)
lumiracoxib  (EXP)
mebendazole  (EXP)
mercury dibromide  (EXP)
methimazole  (ISO)
methylisothiazolinone  (EXP)
nefazodone  (EXP)
nevirapine  (EXP)
nickel atom  (EXP)
nickel sulfate  (EXP)
nimesulide  (EXP)
Nor-9-carboxy-delta9-THC  (EXP)
octreotide  (EXP)
oxaliplatin  (ISO)
p-chloromercuribenzoic acid  (EXP)
paracetamol  (EXP,ISO)
pasireotide  (EXP)
penbutolol  (EXP)
pentacarbonyliron  (ISO)
phorbol 13-acetate 12-myristate  (EXP)
phosgene  (ISO)
pioglitazone  (EXP)
pirprofen  (EXP)
procyclidine  (EXP)
progesterone  (EXP,ISO)
propanal  (EXP)
protriptyline  (EXP)
quercetin  (ISO)
resveratrol  (EXP)
Salidroside  (ISO)
SB 203580  (ISO)
SB 431542  (EXP)
serpentine asbestos  (ISO)
silicon dioxide  (EXP)
sodium arsenite  (EXP)
streptozocin  (ISO)
testosterone  (ISO)
tetrachloroethene  (ISO)
tetrachloromethane  (ISO)
tienilic acid  (EXP)
tipifarnib  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
trazodone  (EXP)
trichostatin A  (EXP)
triclosan  (EXP,ISO)
Trihexyphenidyl  (EXP)
triprolidine  (EXP)
tris(2-butoxyethyl) phosphate  (EXP)
troglitazone  (EXP)
tropan-3alpha-yl 3-hydroxy-2-phenylpropanoate  (ISO)
urethane  (EXP)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
zafirlukast  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
BMP signaling pathway  (IBA,IDA,IMP,ISO,ISS)
cartilage development  (IEA)
cell differentiation  (ISO)
cellular iron ion homeostasis  (ISO,ISS)
cellular response to BMP stimulus  (IMP)
cellular response to iron ion  (ISS)
cellular response to mechanical stimulus  (IEA,ISO)
endochondral ossification  (IEA,ISO)
eye development  (IEA)
immune response  (IMP)
inflammatory response  (IEA,ISO)
kidney development  (IEA)
male genitalia development  (IEA,ISO)
multicellular organismal iron ion homeostasis  (ISS)
negative regulation of adherens junction organization  (IDA)
negative regulation of cell-cell adhesion mediated by cadherin  (IDA)
negative regulation of transcription by RNA polymerase II  (ISS)
ossification  (ISO)
osteoblast differentiation  (IEA,ISO)
positive regulation of aldosterone biosynthetic process  (IDA)
positive regulation of aldosterone secretion  (IEA,ISO)
positive regulation of bone mineralization  (IDA)
positive regulation of cell population proliferation  (NAS)
positive regulation of chondrocyte differentiation  (IEA,ISO)
positive regulation of endothelial cell differentiation  (IEA)
positive regulation of endothelial cell proliferation  (IEA)
positive regulation of epithelial cell proliferation  (IDA)
positive regulation of gene expression  (IMP)
positive regulation of lipopolysaccharide-mediated signaling pathway  (ISS)
positive regulation of neuron differentiation  (IEA,ISO)
positive regulation of osteoblast differentiation  (IDA,ISO)
positive regulation of pathway-restricted SMAD protein phosphorylation  (IBA,IDA,ISS)
positive regulation of peptidyl-tyrosine phosphorylation  (IDA)
positive regulation of protein secretion  (NAS)
positive regulation of SMAD protein signal transduction  (ISS)
positive regulation of transcription by RNA polymerase II  (IDA,IGI,ISS,NAS)
positive regulation of vascular permeability  (IDA)
response to activity  (IEA,ISO)
response to glucocorticoid  (IEA,ISO)
response to iron ion  (ISO)
response to magnesium ion  (IEA,ISO)
response to retinoic acid  (IEA,ISO)
skeletal system development  (TAS)
SMAD protein signal transduction  (IBA,IDA,ISS)
type B pancreatic cell development  (IDA)

Cellular Component
cytoplasm  (IEA,ISO)
extracellular space  (IBA,ISO)
vesicle  (IEA,ISO)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
1. Alarmo EL, etal., Breast Cancer Res Treat. 2007 Jun;103(2):239-46. Epub 2006 Sep 21.
2. Basic-Jukic N, etal., Kidney Blood Press Res. 2009;32(6):445-50. doi: 10.1159/000266479. Epub 2009 Dec 17.
3. Dai J, etal., Cancer Res. 2005 Sep 15;65(18):8274-85.
4. Darby S, etal., J Pathol. 2007 Dec 10;214(3):394-404.
5. Dendooven A, etal., Am J Pathol. 2011 Mar;178(3):1069-79. doi: 10.1016/j.ajpath.2010.12.005.
6. Fischerauer EE, etal., J Orthop Res. 2013 Mar;31(3):357-63. doi: 10.1002/jor.22238. Epub 2012 Oct 23.
7. GOA_HUMAN data from the GO Consortium
8. Maric I, etal., Am J Physiol Gastrointest Liver Physiol. 2012 May 15;302(10):G1151-62. doi: 10.1152/ajpgi.00244.2011. Epub 2012 Feb 23.
9. Martinez G, etal., Brain Res. 2001 Mar 9;894(1):1-11.
10. Pipeline to import KEGG annotations from KEGG into RGD
11. Pipeline to import Pathway Interaction Database annotations from NCI into RGD
12. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
13. RGD automated import pipeline for gene-chemical interactions
14. Sautter NB, etal., Int J Pediatr Otorhinolaryngol. 2011 Nov;75(11):1368-71. doi: 10.1016/j.ijporl.2011.07.026. Epub 2011 Sep 1.
15. Theurl I, etal., Haematologica. 2011 Dec;96(12):1761-9. doi: 10.3324/haematol.2011.048926. Epub 2011 Aug 22.
16. Yuen HF, etal., Cancer Sci. 2012 Jun;103(6):1145-54. doi: 10.1111/j.1349-7006.2012.02252.x. Epub 2012 Apr 3.
17. Zhang Z, etal., Neuroscience. 2006;138(1):47-53. Epub 2006 Jan 4.
Additional References at PubMed
PMID:1427904   PMID:1453478   PMID:2263636   PMID:7605353   PMID:7811286   PMID:8089189   PMID:9116752   PMID:9331107   PMID:9417921   PMID:9435314   PMID:9512655   PMID:10504300  
PMID:10582704   PMID:11401330   PMID:11865031   PMID:12140680   PMID:12477932   PMID:12897139   PMID:13130469   PMID:14558086   PMID:14574404   PMID:14623234   PMID:14660436   PMID:15186723  
PMID:15516325   PMID:15548695   PMID:15784727   PMID:15861517   PMID:15877825   PMID:16527843   PMID:16547600   PMID:16604289   PMID:16886151   PMID:17238135   PMID:17244894   PMID:17262821  
PMID:17574840   PMID:17575215   PMID:17577985   PMID:17879955   PMID:17899540   PMID:17924656   PMID:18070108   PMID:18187665   PMID:18308844   PMID:18326817   PMID:18349123   PMID:18391951  
PMID:18436533   PMID:18632632   PMID:18683889   PMID:18688853   PMID:18805502   PMID:18931653   PMID:18949431   PMID:19075223   PMID:19093115   PMID:19245827   PMID:19252488   PMID:19266077  
PMID:19308091   PMID:19366699   PMID:19539911   PMID:19543302   PMID:19694819   PMID:19718049   PMID:19765379   PMID:20048150   PMID:20379614   PMID:20401668   PMID:20460105   PMID:20530805  
PMID:20546612   PMID:20567515   PMID:20573596   PMID:20587610   PMID:20605837   PMID:20634891   PMID:20734064   PMID:20844121   PMID:20881960   PMID:21136273   PMID:21374653   PMID:21622652  
PMID:21873635   PMID:21898381   PMID:22086350   PMID:22305102   PMID:22419666   PMID:22641693   PMID:22792339   PMID:23049088   PMID:23563607   PMID:23674072   PMID:23799295   PMID:23853066  
PMID:24012720   PMID:24162774   PMID:24185914   PMID:24263212   PMID:24406789   PMID:24498236   PMID:24518599   PMID:24658703   PMID:24875397   PMID:24890613   PMID:24929828   PMID:25011936  
PMID:25121767   PMID:25227796   PMID:25401122   PMID:25429064   PMID:25753222   PMID:26410368   PMID:26475719   PMID:26582087   PMID:26598555   PMID:26751737   PMID:26779985   PMID:26855134  
PMID:27051019   PMID:27592865   PMID:27959431   PMID:28126904   PMID:28335084   PMID:28434979   PMID:28523310   PMID:28733457   PMID:29117863   PMID:29767257   PMID:30171260   PMID:30230035  
PMID:30510168   PMID:30542109   PMID:30633987   PMID:30878675   PMID:30982140   PMID:31276102   PMID:31434001   PMID:32059748   PMID:32076051   PMID:32464486   PMID:32641001   PMID:32845956  
PMID:33232799  


Genomics

Candidate Gene Status
BMP6 is a candidate Gene for QTL BMD4_H
Comparative Map Data
BMP6
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl67,726,099 - 7,881,728 (+)EnsemblGRCh38hg38GRCh38
GRCh3867,726,099 - 7,881,728 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3767,726,332 - 7,881,961 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3667,672,010 - 7,826,960 (+)NCBINCBI36hg18NCBI36
Build 3467,672,008 - 7,826,726NCBI
Celera68,956,438 - 9,111,399 (+)NCBI
Cytogenetic Map6p24.3NCBI
HuRef67,604,128 - 7,759,039 (+)NCBIHuRef
CHM1_167,728,829 - 7,884,079 (+)NCBICHM1_1
Bmp6
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391338,529,692 - 38,684,290 (+)NCBIGRCm39mm39
GRCm39 Ensembl1338,529,083 - 38,684,278 (+)Ensembl
GRCm381338,345,716 - 38,500,314 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1338,345,107 - 38,500,302 (+)EnsemblGRCm38mm10GRCm38
MGSCv371338,437,585 - 38,591,597 (+)NCBIGRCm37mm9NCBIm37
MGSCv361338,353,182 - 38,507,194 (+)NCBImm8
Celera1339,464,167 - 39,615,905 (+)NCBICelera
Cytogenetic Map13A3.3NCBI
cM Map1318.15NCBI
Bmp6
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21726,318,121 - 26,469,034 (-)NCBI
Rnor_6.0 Ensembl1726,955,142 - 27,112,820 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01726,955,142 - 27,112,820 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01728,870,345 - 29,029,564 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41732,380,199 - 32,689,295 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11732,383,039 - 32,692,136 (-)NCBI
Celera1725,955,026 - 26,103,008 (-)NCBICelera
RH 3.4 Map17342.3RGD
Cytogenetic Map17p12NCBI
Bmp6
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554656,054,931 - 6,200,377 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554656,053,600 - 6,201,254 (-)NCBIChiLan1.0ChiLan1.0
BMP6
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.167,848,255 - 8,002,030 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl67,848,249 - 8,000,649 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v067,564,164 - 7,720,341 (+)NCBIMhudiblu_PPA_v0panPan3
BMP6
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1357,780,763 - 7,833,095 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl357,804,231 - 7,831,845 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha357,690,267 - 7,840,113 (+)NCBI
ROS_Cfam_1.0357,770,103 - 7,915,608 (+)NCBI
UMICH_Zoey_3.1357,622,630 - 7,772,359 (+)NCBI
UNSW_CanFamBas_1.0357,648,291 - 7,798,326 (+)NCBI
UU_Cfam_GSD_1.0358,982,152 - 9,131,717 (+)NCBI
Bmp6
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494616,438,976 - 16,602,907 (-)NCBI
SpeTri2.0NW_0049365344,707,658 - 4,871,865 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
BMP6
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl75,058,817 - 5,211,316 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.175,058,817 - 5,208,868 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.275,163,209 - 5,313,233 (+)NCBISscrofa10.2Sscrofa10.2susScr3
BMP6
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11764,279,243 - 64,436,356 (-)NCBI
ChlSab1.1 Ensembl1764,280,609 - 64,435,382 (-)Ensembl
Vero_WHO_p1.0NW_0236660447,712,261 - 7,873,910 (+)NCBI
Bmp6
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462475617,742,822 - 17,894,931 (-)NCBI

Position Markers
A002L04  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3767,881,912 - 7,882,028UniSTSGRCh37
Build 3667,826,911 - 7,827,027RGDNCBI36
Celera69,111,350 - 9,111,466RGD
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map6p24-p23UniSTS
Cytogenetic Map6pUniSTS
HuRef67,758,990 - 7,759,106UniSTS
GeneMap99-GB4 RH Map640.68UniSTS
GeneMap99-GB4 RH Map643.85UniSTS
Whitehead-RH Map665.7UniSTS
WI-13193  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3767,881,799 - 7,881,902UniSTSGRCh37
Build 3667,826,798 - 7,826,901RGDNCBI36
Celera69,111,237 - 9,111,340RGD
Cytogenetic Map6pUniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map6p24-p23UniSTS
HuRef67,758,888 - 7,758,980UniSTS
GeneMap99-GB4 RH Map640.68UniSTS
Whitehead-RH Map665.8UniSTS
AL035176  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3767,876,669 - 7,876,788UniSTSGRCh37
Build 3667,821,668 - 7,821,787RGDNCBI36
Celera69,106,109 - 9,106,228RGD
Cytogenetic Map6p24-p23UniSTS
HuRef67,753,760 - 7,753,879UniSTS
RH102060  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3767,783,895 - 7,784,031UniSTSGRCh37
GRCh37269,685,301 - 69,685,437UniSTSGRCh37
Build 36269,538,805 - 69,538,941RGDNCBI36
Celera69,013,324 - 9,013,460UniSTS
Celera269,535,374 - 69,535,510RGD
Cytogenetic Map2p14UniSTS
Cytogenetic Map6p24-p23UniSTS
HuRef67,661,058 - 7,661,194UniSTS
HuRef269,421,527 - 69,421,663UniSTS
SHGC-79401  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3767,786,246 - 7,786,576UniSTSGRCh37
Build 3667,731,245 - 7,731,575RGDNCBI36
Celera69,015,675 - 9,016,005RGD
Cytogenetic Map6p24-p23UniSTS
HuRef67,663,409 - 7,663,739UniSTS
TNG Radiation Hybrid Map64564.0UniSTS
RH120353  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3767,736,686 - 7,736,956UniSTSGRCh37
Build 3667,681,685 - 7,681,955RGDNCBI36
Celera68,966,113 - 8,966,383RGD
Cytogenetic Map6p24-p23UniSTS
HuRef67,613,800 - 7,614,070UniSTS
TNG Radiation Hybrid Map64543.0UniSTS
RH120640  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3767,736,525 - 7,736,858UniSTSGRCh37
Build 3667,681,524 - 7,681,857RGDNCBI36
Celera68,965,952 - 8,966,285RGD
Cytogenetic Map6p24-p23UniSTS
HuRef67,613,639 - 7,613,972UniSTS
TNG Radiation Hybrid Map64539.0UniSTS
SHGC-104947  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3767,787,339 - 7,787,680UniSTSGRCh37
Build 3667,732,338 - 7,732,679RGDNCBI36
Celera69,016,768 - 9,017,109RGD
Cytogenetic Map6p24-p23UniSTS
HuRef67,664,499 - 7,664,840UniSTS
TNG Radiation Hybrid Map64581.0UniSTS
SHGC-145537  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3767,864,267 - 7,864,541UniSTSGRCh37
Build 3667,809,266 - 7,809,540RGDNCBI36
Celera69,093,705 - 9,093,979RGD
Cytogenetic Map6p24-p23UniSTS
HuRef67,741,355 - 7,741,629UniSTS
TNG Radiation Hybrid Map64620.0UniSTS
NIB594  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3767,881,839 - 7,882,061UniSTSGRCh37
Build 3667,826,838 - 7,827,060RGDNCBI36
Celera69,111,277 - 9,111,499RGD
Cytogenetic Map6p24-p23UniSTS
Cytogenetic Map6p24.3UniSTS
Stanford-G3 RH Map6247.0UniSTS
GeneMap99-G3 RH Map6247.0UniSTS
D6S1842  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3767,880,690 - 7,880,895UniSTSGRCh37
Build 3667,825,689 - 7,825,894RGDNCBI36
Celera69,110,128 - 9,110,333RGD
Cytogenetic Map6p24-p23UniSTS
HuRef67,757,779 - 7,757,984UniSTS
Stanford-G3 RH Map6257.0UniSTS
Whitehead-YAC Contig Map6 UniSTS
NCBI RH Map6119.3UniSTS
GeneMap99-G3 RH Map6257.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:383
Count of miRNA genes:324
Interacting mature miRNAs:346
Transcripts:ENST00000283147
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.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 164 585 137 17 115 18 1493 83 492 104 298 494 1120 788 1
Low 2192 2307 1423 453 1570 294 2822 2081 3148 294 1111 1052 168 84 1992 1
Below cutoff 40 90 152 145 184 145 32 28 50 16 33 47 2 8

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA700487 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF083030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL133541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL135778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC096084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC096085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC099624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC099625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC111763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC112352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC128031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF732376 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JC739550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT583973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M60315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000283147   ⟹   ENSP00000283147
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl67,726,099 - 7,881,728 (+)Ensembl
RefSeq Acc Id: NM_001718   ⟹   NP_001709
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3867,726,099 - 7,881,728 (+)NCBI
GRCh3767,727,011 - 7,881,972 (+)NCBI
Build 3667,672,010 - 7,826,960 (+)NCBI Archive
HuRef67,604,128 - 7,759,039 (+)ENTREZGENE
CHM1_167,728,829 - 7,884,079 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001709   ⟸   NM_001718
- Peptide Label: preproprotein
- UniProtKB: P22004 (UniProtKB/Swiss-Prot),   Q4VBA3 (UniProtKB/TrEMBL),   B4DUF7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000283147   ⟸   ENST00000283147
Protein Domains
TGF_BETA_2

Promoters
RGD ID:6803803
Promoter ID:HG_KWN:52256
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Lymphoblastoid
Transcripts:NM_001718
Position:
Human AssemblyChrPosition (strand)Source
Build 3667,671,371 - 7,672,702 (+)MPROMDB
RGD ID:6871990
Promoter ID:EPDNEW_H9158
Type:initiation region
Name:BMP6_1
Description:bone morphogenetic protein 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3867,726,860 - 7,726,920EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 6p25.3-23(chr6:389423-13474956)x3 copy number gain See cases [RCV000051896] Chr6:389423..13474956 [GRCh38]
Chr6:389423..13475188 [GRCh37]
Chr6:334423..13583167 [NCBI36]
Chr6:6p25.3-23
pathogenic
GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3 copy number gain See cases [RCV000051869] Chr6:106431..18360595 [GRCh38]
Chr6:106431..18360826 [GRCh37]
Chr6:51431..18468805 [NCBI36]
Chr6:6p25.3-22.3
pathogenic
GRCh38/hg38 6p25.3-24.3(chr6:165675-9036034)x1 copy number loss See cases [RCV000052165] Chr6:165675..9036034 [GRCh38]
Chr6:165675..9036267 [GRCh37]
Chr6:110675..8981266 [NCBI36]
Chr6:6p25.3-24.3
pathogenic
GRCh38/hg38 6p25.1-24.3(chr6:4427090-8391140)x1 copy number loss See cases [RCV000052177] Chr6:4427090..8391140 [GRCh38]
Chr6:4427324..8391373 [GRCh37]
Chr6:4372323..8336372 [NCBI36]
Chr6:6p25.1-24.3
pathogenic
GRCh38/hg38 6p25.1-24.3(chr6:5925989-8749319)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052178]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052178]|See cases [RCV000052178] Chr6:5925989..8749319 [GRCh38]
Chr6:5926222..8749552 [GRCh37]
Chr6:5871221..8694551 [NCBI36]
Chr6:6p25.1-24.3
pathogenic
NM_001718.4(BMP6):c.664+13001G>T single nucleotide variant Lung cancer [RCV000097175] Chr6:7740620 [GRCh38]
Chr6:7740853 [GRCh37]
Chr6:6p24.3
uncertain significance
NM_001718.4(BMP6):c.1205-286T>C single nucleotide variant Lung cancer [RCV000097185] Chr6:7878788 [GRCh38]
Chr6:7879021 [GRCh37]
Chr6:6p24.3
uncertain significance
GRCh38/hg38 6p25.3-24.1(chr6:164360-13339881)x3 copy number gain See cases [RCV000134022] Chr6:164360..13339881 [GRCh38]
Chr6:164360..13340113 [GRCh37]
Chr6:109360..13448092 [NCBI36]
Chr6:6p25.3-24.1
pathogenic
GRCh38/hg38 6p25.3-24.3(chr6:163083-9525496)x3 copy number gain See cases [RCV000136567] Chr6:163083..9525496 [GRCh38]
Chr6:163083..9525729 [GRCh37]
Chr6:108083..9633715 [NCBI36]
Chr6:6p25.3-24.3
pathogenic
GRCh38/hg38 6p25.2-24.1(chr6:4068792-13267799)x1 copy number loss See cases [RCV000136132] Chr6:4068792..13267799 [GRCh38]
Chr6:4069026..13268031 [GRCh37]
Chr6:4014025..13376010 [NCBI36]
Chr6:6p25.2-24.1
pathogenic
GRCh38/hg38 6p25.3-22.3(chr6:152634-15732163)x3 copy number gain See cases [RCV000138121] Chr6:152634..15732163 [GRCh38]
Chr6:152634..15732394 [GRCh37]
Chr6:97634..15840373 [NCBI36]
Chr6:6p25.3-22.3
likely benign
GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3 copy number gain See cases [RCV000138956] Chr6:3224310..30657190 [GRCh38]
Chr6:3224544..30624967 [GRCh37]
Chr6:3169543..30732946 [NCBI36]
Chr6:6p25.2-21.33
pathogenic
GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3 copy number gain See cases [RCV000140307] Chr6:155807..17058414 [GRCh38]
Chr6:155807..17058645 [GRCh37]
Chr6:100807..17166624 [NCBI36]
Chr6:6p25.3-22.3
pathogenic
GRCh38/hg38 6p25.3-24.2(chr6:156974-11550817)x3 copy number gain See cases [RCV000142295] Chr6:156974..11550817 [GRCh38]
Chr6:156974..11551050 [GRCh37]
Chr6:101974..11659036 [NCBI36]
Chr6:6p25.3-24.2
likely pathogenic
GRCh38/hg38 6p25.2-22.3(chr6:2862640-16697788)x1 copy number loss See cases [RCV000142435] Chr6:2862640..16697788 [GRCh38]
Chr6:2862874..16698019 [GRCh37]
Chr6:2807873..16805998 [NCBI36]
Chr6:6p25.2-22.3
pathogenic
GRCh38/hg38 6p25.3-23(chr6:152634-14417003)x3 copy number gain See cases [RCV000143334] Chr6:152634..14417003 [GRCh38]
Chr6:152634..14417234 [GRCh37]
Chr6:97634..14525213 [NCBI36]
Chr6:6p25.3-23
pathogenic
GRCh38/hg38 6p25.3-24.1(chr6:156974-13081201)x3 copy number gain See cases [RCV000143698] Chr6:156974..13081201 [GRCh38]
Chr6:156974..13081433 [GRCh37]
Chr6:101974..13189419 [NCBI36]
Chr6:6p25.3-24.1
likely pathogenic
GRCh38/hg38 6p25.3-23(chr6:156974-13855925)x1 copy number loss See cases [RCV000143782] Chr6:156974..13855925 [GRCh38]
Chr6:156974..13856156 [GRCh37]
Chr6:101974..13964135 [NCBI36]
Chr6:6p25.3-23
pathogenic
GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3 copy number gain See cases [RCV000143497] Chr6:156974..46789291 [GRCh38]
Chr6:156974..46757028 [GRCh37]
Chr6:101974..46864987 [NCBI36]
Chr6:6p25.3-12.3
pathogenic
GRCh37/hg19 6p25.3-24.1(chr6:204009-11608587)x1 copy number loss See cases [RCV000240433] Chr6:204009..11608587 [GRCh37]
Chr6:6p25.3-24.1
pathogenic
GRCh37/hg19 6p25.1-22.3(chr6:5354402-17950079)x1 copy number loss See cases [RCV000240576] Chr6:5354402..17950079 [GRCh37]
Chr6:6p25.1-22.3
pathogenic
GRCh37/hg19 6p25.3-22.3(chr6:168775-24023234)x3 copy number gain See cases [RCV000240460] Chr6:168775..24023234 [GRCh37]
Chr6:6p25.3-22.3
pathogenic
GRCh37/hg19 6p25.3-22.3(chr6:302272-18375047)x3 copy number gain See cases [RCV000446145] Chr6:302272..18375047 [GRCh37]
Chr6:6p25.3-22.3
pathogenic
GRCh37/hg19 6p25.3-24.3(chr6:156974-8349511)x3 copy number gain See cases [RCV000445742] Chr6:156974..8349511 [GRCh37]
Chr6:6p25.3-24.3
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p24.3(chr6:7229084-7904034)x3 copy number gain See cases [RCV000511519] Chr6:7229084..7904034 [GRCh37]
Chr6:6p24.3
likely benign
GRCh37/hg19 6p25.3-22.3(chr6:156974-21955964)x3 copy number gain not provided [RCV000682629] Chr6:156974..21955964 [GRCh37]
Chr6:6p25.3-22.3
pathogenic
GRCh37/hg19 6p25.1-24.3(chr6:4990661-10358695)x1 copy number loss not provided [RCV000682638] Chr6:4990661..10358695 [GRCh37]
Chr6:6p25.1-24.3
pathogenic
GRCh37/hg19 6p25.3-23(chr6:156974-13502033)x3 copy number gain not provided [RCV000682628] Chr6:156974..13502033 [GRCh37]
Chr6:6p25.3-23
pathogenic
GRCh37/hg19 6p25.3-24.3(chr6:1860928-8884071)x3 copy number gain not provided [RCV000682633] Chr6:1860928..8884071 [GRCh37]
Chr6:6p25.3-24.3
likely pathogenic
GRCh37/hg19 6p25.1-24.2(chr6:6990611-11276452)x1 copy number loss not provided [RCV000682643] Chr6:6990611..11276452 [GRCh37]
Chr6:6p25.1-24.2
pathogenic
Single allele duplication not provided [RCV000677944] Chr6:168775..24023234 [GRCh37]
Chr6:6p25.3-22.3
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p24.3(chr6:7781784-7782519)x0 copy number loss not provided [RCV000745455] Chr6:7781784..7782519 [GRCh37]
Chr6:6p24.3
benign
NM_001718.6(BMP6):c.480C>T (p.Ser160=) single nucleotide variant not provided [RCV000970779] Chr6:7727435 [GRCh38]
Chr6:7727668 [GRCh37]
Chr6:6p24.3
benign
GRCh37/hg19 6p25.1-24.3(chr6:6846861-7759131)x3 copy number gain not provided [RCV000849173] Chr6:6846861..7759131 [GRCh37]
Chr6:6p25.1-24.3
uncertain significance
GRCh37/hg19 6p25.3-22.3(chr6:156974-23221621)x3 copy number gain not provided [RCV000848108] Chr6:156974..23221621 [GRCh37]
Chr6:6p25.3-22.3
pathogenic
GRCh37/hg19 6p25.1-24.3(chr6:5997521-8570039)x1 copy number loss not provided [RCV001005768] Chr6:5997521..8570039 [GRCh37]
Chr6:6p25.1-24.3
pathogenic
GRCh37/hg19 6p25.1-24.3(chr6:6495789-8070987)x3 copy number gain not provided [RCV001259377] Chr6:6495789..8070987 [GRCh37]
Chr6:6p25.1-24.3
uncertain significance
NM_001718.6(BMP6):c.409C>A (p.Leu137Met) single nucleotide variant Premature ovarian failure [RCV001270201] Chr6:7727364 [GRCh38]
Chr6:7727597 [GRCh37]
Chr6:6p24.3
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1073 AgrOrtholog
COSMIC BMP6 COSMIC
Ensembl Genes ENSG00000153162 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000283147 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000283147 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 2.10.90.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000153162 GTEx
HGNC ID HGNC:1073 ENTREZGENE
Human Proteome Map BMP6 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:654 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 654 ENTREZGENE
OMIM 112266 OMIM
PANTHER PTHR11848 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam TGF_beta UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TGFb_propeptide UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25383 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 A1L1B5_HUMAN UniProtKB/TrEMBL
  A4FU96_HUMAN UniProtKB/TrEMBL
  A4FU97_HUMAN UniProtKB/TrEMBL
  B4DUF7 ENTREZGENE, UniProtKB/TrEMBL
  BMP6_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q4JCQ2_HUMAN UniProtKB/TrEMBL
  Q4VBA3 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary Q5TCP3 UniProtKB/Swiss-Prot