BMP5 (bone morphogenetic protein 5) - Rat Genome Database

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Gene: BMP5 (bone morphogenetic protein 5) Homo sapiens
Analyze
Symbol: BMP5
Name: bone morphogenetic protein 5
RGD ID: 1314330
HGNC Page HGNC:1072
Description: Enables BMP receptor binding activity. Involved in several processes, including BMP signaling pathway; negative regulation of steroid hormone biosynthetic process; and regulation of signal transduction. Predicted to be located in vesicle. Predicted to be active in extracellular space.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: BMP-5; bone morphogenenic protein-5; MGC34244
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38655,753,653 - 55,875,590 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl655,753,653 - 55,875,590 (-)EnsemblGRCh38hg38GRCh38
GRCh37655,618,451 - 55,740,388 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36655,728,195 - 55,848,334 (-)NCBINCBI36Build 36hg18NCBI36
Build 34655,728,198 - 55,848,334NCBI
Celera657,281,444 - 57,401,579 (-)NCBICelera
Cytogenetic Map6p12.1NCBI
HuRef655,455,271 - 55,575,481 (-)NCBIHuRef
CHM1_1655,623,337 - 55,743,453 (-)NCBICHM1_1
T2T-CHM13v2.0655,593,278 - 55,715,204 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
17beta-estradiol  (EXP,ISO)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
4,4'-sulfonyldiphenol  (ISO)
5-aza-2'-deoxycytidine  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP)
amitrole  (ISO)
arotinoid acid  (EXP)
arsane  (ISO)
arsenic atom  (ISO)
arsenite(3-)  (ISO)
atrazine  (ISO)
belinostat  (EXP)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (ISO)
bisphenol F  (ISO)
cadmium dichloride  (EXP)
carbon nanotube  (ISO)
carmustine  (EXP)
CHIR 99021  (EXP)
chlorambucil  (ISO)
chlordecone  (ISO)
chloroprene  (ISO)
cortisol  (EXP)
coumestrol  (EXP)
cytarabine  (EXP)
dimethylarsinic acid  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
entinostat  (EXP)
genistein  (ISO)
glyphosate  (EXP,ISO)
indole-3-methanol  (ISO)
kojic acid  (EXP)
L-ascorbic acid  (EXP)
L-ascorbic acid 2-phosphate  (EXP)
lipopolysaccharide  (EXP)
mercury dibromide  (EXP)
methimazole  (ISO)
methoxychlor  (ISO)
methylmercury chloride  (EXP)
microcystin-LR  (EXP)
mono(2-ethylhexyl) phthalate  (EXP)
N-acetyl-L-cysteine  (ISO)
N-ethyl-N-nitrosourea  (ISO)
N-methyl-4-phenylpyridinium  (EXP)
N-methyl-N-nitrosourea  (ISO)
N-nitrosodiethylamine  (ISO)
oxaliplatin  (ISO)
p-chloromercuribenzoic acid  (EXP)
panobinostat  (EXP)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
potassium dichromate  (ISO)
progesterone  (ISO)
resveratrol  (EXP)
rotenone  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
sodium arsenate  (ISO)
sodium arsenite  (EXP,ISO)
sulfadimethoxine  (ISO)
sunitinib  (EXP)
tamoxifen  (EXP)
temozolomide  (EXP)
tetrachloroethene  (ISO)
tetrachloromethane  (ISO)
topotecan  (ISO)
trichostatin A  (EXP)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
vorinostat  (EXP)
XAV939  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
allantois development  (IEA,ISS)
anterior head development  (IEA,ISO)
BMP signaling pathway  (IDA)
cardiac muscle tissue development  (IEA,ISS)
cardiac septum morphogenesis  (IEA,ISS)
cartilage development  (IEA)
cell differentiation  (IEA)
chorio-allantoic fusion  (IEA,ISS)
ear development  (IEA,ISO)
endocardial cushion formation  (IEA,ISS)
heart trabecula morphogenesis  (IEA,ISS)
hindbrain development  (IEA,ISS)
male genitalia development  (IEA,ISO)
negative regulation of aldosterone biosynthetic process  (IDA)
negative regulation of cell population proliferation  (IDA)
negative regulation of cortisol biosynthetic process  (IDA)
negative regulation of epithelial to mesenchymal transition  (NAS)
negative regulation of extrinsic apoptotic signaling pathway via death domain receptors  (NAS)
negative regulation of insulin-like growth factor receptor signaling pathway  (IDA)
negative regulation of mononuclear cell migration  (NAS)
negative regulation of steroid biosynthetic process  (IDA)
neural fold elevation formation  (IEA,ISS)
ossification  (IEA)
pattern specification process  (IEA,ISO)
pericardium morphogenesis  (IEA,ISS)
pharyngeal system development  (IEA,ISS)
positive regulation of cell population proliferation  (IDA)
positive regulation of dendrite development  (IDA)
positive regulation of epithelial cell proliferation  (IDA)
positive regulation of SMAD protein signal transduction  (IDA)
positive regulation of transcription by RNA polymerase II  (IDA)
signal transduction  (IEA)
skeletal system development  (IEA,ISO,NAS)
type B pancreatic cell development  (IDA)

Cellular Component

Molecular Function

Molecular Pathway 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. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1427904   PMID:2263636   PMID:7811286   PMID:8630036   PMID:9950587   PMID:11564221   PMID:11580864   PMID:11642720   PMID:11807867   PMID:11865031   PMID:11967953   PMID:12131877  
PMID:12477932   PMID:14574404   PMID:14660436   PMID:15489334   PMID:15516325   PMID:15861517   PMID:16344560   PMID:16542506   PMID:17220169   PMID:17656261   PMID:19584291   PMID:19935299  
PMID:20021689   PMID:20379614   PMID:20402566   PMID:20734064   PMID:21319131   PMID:21704030   PMID:21873635   PMID:22844442   PMID:23186552   PMID:24384427   PMID:24551273   PMID:25030405  
PMID:25401122   PMID:25994008   PMID:28514442   PMID:28695869   PMID:30097509   PMID:30119170   PMID:30572883   PMID:32296183   PMID:32968094   PMID:33961781   PMID:35054776  


Genomics

Comparative Map Data
BMP5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38655,753,653 - 55,875,590 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl655,753,653 - 55,875,590 (-)EnsemblGRCh38hg38GRCh38
GRCh37655,618,451 - 55,740,388 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36655,728,195 - 55,848,334 (-)NCBINCBI36Build 36hg18NCBI36
Build 34655,728,198 - 55,848,334NCBI
Celera657,281,444 - 57,401,579 (-)NCBICelera
Cytogenetic Map6p12.1NCBI
HuRef655,455,271 - 55,575,481 (-)NCBIHuRef
CHM1_1655,623,337 - 55,743,453 (-)NCBICHM1_1
T2T-CHM13v2.0655,593,278 - 55,715,204 (-)NCBIT2T-CHM13v2.0
Bmp5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39975,682,647 - 75,807,598 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl975,682,646 - 75,807,592 (+)EnsemblGRCm39 Ensembl
GRCm38975,775,365 - 75,900,316 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl975,775,364 - 75,900,310 (+)EnsemblGRCm38mm10GRCm38
MGSCv37975,623,172 - 75,746,824 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36975,561,274 - 75,684,926 (+)NCBIMGSCv36mm8
Celera972,947,674 - 73,071,783 (+)NCBICelera
Cytogenetic Map9DNCBI
cM Map942.34NCBI
Bmp5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2876,517,164 - 76,639,925 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl876,517,164 - 76,639,925 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx882,030,944 - 82,153,707 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0880,289,767 - 80,412,506 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0878,130,272 - 78,253,044 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0882,669,466 - 82,950,273 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl882,878,941 - 82,950,273 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0882,266,949 - 82,526,447 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4880,593,053 - 80,717,015 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1880,610,468 - 80,733,833 (+)NCBI
Celera876,306,530 - 76,429,126 (+)NCBICelera
Cytogenetic Map8q24NCBI
Bmp5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955411450,674 - 558,650 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955411450,674 - 557,213 (+)NCBIChiLan1.0ChiLan1.0
BMP5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1666,094,284 - 66,218,613 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0655,302,721 - 55,425,248 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1656,936,871 - 57,058,801 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl656,936,850 - 57,059,519 (-)Ensemblpanpan1.1panPan2
BMP5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11223,089,429 - 23,202,176 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1223,089,459 - 23,202,348 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1222,980,188 - 23,092,541 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01223,587,541 - 23,700,170 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1223,587,187 - 23,699,514 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11223,083,296 - 23,195,652 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01223,187,441 - 23,299,694 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01223,319,382 - 23,432,016 (-)NCBIUU_Cfam_GSD_1.0
Bmp5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494658,495,816 - 58,609,333 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364765,350,870 - 5,464,354 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364765,350,870 - 5,464,561 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
BMP5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl725,344,822 - 25,470,470 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1725,344,924 - 25,468,430 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2729,657,701 - 29,658,702 (-)NCBISscrofa10.2Sscrofa10.2susScr3
Sscrofa10.2729,873,198 - 29,939,042 (+)NCBISscrofa10.2Sscrofa10.2susScr3
BMP5
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11715,696,379 - 15,819,454 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1715,696,580 - 15,819,564 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605821,842,528 - 21,973,085 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Bmp5
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248503,322,782 - 3,481,512 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248503,324,553 - 3,481,439 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in BMP5
31 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 6p12.1(chr6:54263893-56826637)x1 copy number loss See cases [RCV000052183] Chr6:54263893..56826637 [GRCh38]
Chr6:54128691..56691435 [GRCh37]
Chr6:54236650..56799394 [NCBI36]
Chr6:6p12.1
pathogenic
GRCh38/hg38 6p12.3-11.2(chr6:50971182-57432788)x1 copy number loss See cases [RCV000134922] Chr6:50971182..57432788 [GRCh38]
Chr6:50938895..57297586 [GRCh37]
Chr6:51046854..57405545 [NCBI36]
Chr6:6p12.3-11.2
pathogenic
GRCh38/hg38 6p12.1-q12(chr6:53931543-68149750)x3 copy number gain See cases [RCV000137097] Chr6:53931543..68149750 [GRCh38]
Chr6:53796341..68859642 [GRCh37]
Chr6:53904300..68916363 [NCBI36]
Chr6:6p12.1-q12
pathogenic
GRCh37/hg19 6p12.1(chr6:55571225-56204751)x3 copy number gain See cases [RCV000512055] Chr6:55571225..56204751 [GRCh37]
Chr6:6p12.1
uncertain significance
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 6p12.1(chr6:54730810-56217129)x1 copy number loss See cases [RCV000510611] Chr6:54730810..56217129 [GRCh37]
Chr6:6p12.1
likely benign
NM_021073.4(BMP5):c.1304G>C (p.Ser435Thr) single nucleotide variant Inborn genetic diseases [RCV003308567] Chr6:55755594 [GRCh38]
Chr6:55620392 [GRCh37]
Chr6:6p12.1
uncertain significance
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
NM_021073.4(BMP5):c.1068C>T (p.His356=) single nucleotide variant not provided [RCV000879691] Chr6:55760493 [GRCh38]
Chr6:55625291 [GRCh37]
Chr6:6p12.1
benign
NM_021073.4(BMP5):c.362A>G (p.Asn121Ser) single nucleotide variant not provided [RCV000881295] Chr6:55874504 [GRCh38]
Chr6:55739302 [GRCh37]
Chr6:6p12.1
benign
GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367) copy number gain not provided [RCV000767714] Chr6:29455465..81447367 [GRCh37]
Chr6:6p22.1-q14.1
pathogenic
GRCh37/hg19 6p12.1(chr6:55517952-55642430)x3 copy number gain not provided [RCV000848718] Chr6:55517952..55642430 [GRCh37]
Chr6:6p12.1
uncertain significance
NM_021073.4(BMP5):c.1105-29GT[13] microsatellite not provided [RCV000910762] Chr6:55759124..55759125 [GRCh38]
Chr6:55623922..55623923 [GRCh37]
Chr6:6p12.1
benign
NM_021073.4(BMP5):c.625T>C (p.Phe209Leu) single nucleotide variant not provided [RCV000887128] Chr6:55819713 [GRCh38]
Chr6:55684511 [GRCh37]
Chr6:6p12.1
benign
GRCh37/hg19 6p12.1(chr6:55731582-56212819) copy number gain not specified [RCV002053573] Chr6:55731582..56212819 [GRCh37]
Chr6:6p12.1
uncertain significance
GRCh37/hg19 6p12.1(chr6:55565835-56277853) copy number gain not specified [RCV002053572] Chr6:55565835..56277853 [GRCh37]
Chr6:6p12.1
uncertain significance
GRCh37/hg19 6p21.1-q12(chr6:43636308-64947206)x3 copy number gain not provided [RCV002221457] Chr6:43636308..64947206 [GRCh37]
Chr6:6p21.1-q12
likely pathogenic
NM_021073.4(BMP5):c.1178A>G (p.His393Arg) single nucleotide variant Inborn genetic diseases [RCV003285047] Chr6:55759042 [GRCh38]
Chr6:55623840 [GRCh37]
Chr6:6p12.1
uncertain significance
GRCh37/hg19 6p12.1(chr6:54926500-55647880)x3 copy number gain not provided [RCV002473579] Chr6:54926500..55647880 [GRCh37]
Chr6:6p12.1
uncertain significance
NM_021073.4(BMP5):c.374G>A (p.Arg125His) single nucleotide variant Inborn genetic diseases [RCV002968193] Chr6:55874492 [GRCh38]
Chr6:55739290 [GRCh37]
Chr6:6p12.1
uncertain significance
GRCh38/hg38 6p12.1-11.2(chr6:55755662-55874865)x2 copy number loss Orofacial cleft [RCV002481089] Chr6:55755662..55874865 [GRCh38]
Chr6:6p12.1-11.2
uncertain significance
NM_021073.4(BMP5):c.1346G>A (p.Arg449His) single nucleotide variant Inborn genetic diseases [RCV002997741] Chr6:55755552 [GRCh38]
Chr6:55620350 [GRCh37]
Chr6:6p12.1
uncertain significance
NM_021073.4(BMP5):c.395C>T (p.Thr132Met) single nucleotide variant Inborn genetic diseases [RCV002974724] Chr6:55874471 [GRCh38]
Chr6:55739269 [GRCh37]
Chr6:6p12.1
uncertain significance
NM_021073.4(BMP5):c.1203A>G (p.Ile401Met) single nucleotide variant Inborn genetic diseases [RCV002906244] Chr6:55759017 [GRCh38]
Chr6:55623815 [GRCh37]
Chr6:6p12.1
uncertain significance
NM_021073.4(BMP5):c.1339G>A (p.Val447Ile) single nucleotide variant Inborn genetic diseases [RCV002661229] Chr6:55755559 [GRCh38]
Chr6:55620357 [GRCh37]
Chr6:6p12.1
uncertain significance
NM_021073.4(BMP5):c.353C>A (p.Ala118Asp) single nucleotide variant Inborn genetic diseases [RCV002919351] Chr6:55874513 [GRCh38]
Chr6:55739311 [GRCh37]
Chr6:6p12.1
uncertain significance
NM_021073.4(BMP5):c.894A>C (p.Gln298His) single nucleotide variant Inborn genetic diseases [RCV002697917] Chr6:55774182 [GRCh38]
Chr6:55638980 [GRCh37]
Chr6:6p12.1
uncertain significance
NM_021073.4(BMP5):c.918G>T (p.Lys306Asn) single nucleotide variant Inborn genetic diseases [RCV002743036] Chr6:55774158 [GRCh38]
Chr6:55638956 [GRCh37]
Chr6:6p12.1
uncertain significance
NM_021073.4(BMP5):c.913T>C (p.Phe305Leu) single nucleotide variant Inborn genetic diseases [RCV002789747] Chr6:55774163 [GRCh38]
Chr6:55638961 [GRCh37]
Chr6:6p12.1
uncertain significance
NM_021073.4(BMP5):c.1240G>A (p.Val414Ile) single nucleotide variant Inborn genetic diseases [RCV002674556] Chr6:55755658 [GRCh38]
Chr6:55620456 [GRCh37]
Chr6:6p12.1
uncertain significance
NM_021073.4(BMP5):c.640A>G (p.Ile214Val) single nucleotide variant Inborn genetic diseases [RCV002748096] Chr6:55819698 [GRCh38]
Chr6:55684496 [GRCh37]
Chr6:6p12.1
uncertain significance
NM_021073.4(BMP5):c.875A>G (p.Gln292Arg) single nucleotide variant Inborn genetic diseases [RCV002831258] Chr6:55774201 [GRCh38]
Chr6:55638999 [GRCh37]
Chr6:6p12.1
uncertain significance
NM_021073.4(BMP5):c.1031A>G (p.Tyr344Cys) single nucleotide variant Inborn genetic diseases [RCV002674167] Chr6:55760530 [GRCh38]
Chr6:55625328 [GRCh37]
Chr6:6p12.1
uncertain significance
NM_021073.4(BMP5):c.424C>G (p.Leu142Val) single nucleotide variant Inborn genetic diseases [RCV002900816] Chr6:55874442 [GRCh38]
Chr6:55739240 [GRCh37]
Chr6:6p12.1
uncertain significance
NM_021073.4(BMP5):c.268A>G (p.Asn90Asp) single nucleotide variant Inborn genetic diseases [RCV002878130] Chr6:55874598 [GRCh38]
Chr6:55739396 [GRCh37]
Chr6:6p12.1
uncertain significance
NM_021073.4(BMP5):c.1042G>A (p.Glu348Lys) single nucleotide variant Inborn genetic diseases [RCV003277741] Chr6:55760519 [GRCh38]
Chr6:55625317 [GRCh37]
Chr6:6p12.1
uncertain significance
NM_021073.4(BMP5):c.976C>T (p.Arg326Cys) single nucleotide variant Inborn genetic diseases [RCV003192034] Chr6:55774100 [GRCh38]
Chr6:55638898 [GRCh37]
Chr6:6p12.1
uncertain significance
NM_021073.4(BMP5):c.786T>G (p.Asn262Lys) single nucleotide variant Inborn genetic diseases [RCV003379113] Chr6:55794325 [GRCh38]
Chr6:55659123 [GRCh37]
Chr6:6p12.1
uncertain significance
NM_021073.4(BMP5):c.871A>G (p.Arg291Gly) single nucleotide variant Inborn genetic diseases [RCV003360471] Chr6:55774205 [GRCh38]
Chr6:55639003 [GRCh37]
Chr6:6p12.1
uncertain significance
NM_021073.4(BMP5):c.425T>C (p.Leu142Pro) single nucleotide variant Inborn genetic diseases [RCV003385566] Chr6:55874441 [GRCh38]
Chr6:55739239 [GRCh37]
Chr6:6p12.1
uncertain significance
NM_021073.4(BMP5):c.1041T>G (p.Ser347Arg) single nucleotide variant BMP5-related condition [RCV003403039] Chr6:55760520 [GRCh38]
Chr6:55625318 [GRCh37]
Chr6:6p12.1
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:753
Count of miRNA genes:418
Interacting mature miRNAs:462
Transcripts:ENST00000370830, ENST00000446683
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
D6S1661  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37655,638,245 - 55,638,527UniSTSGRCh37
Build 36655,746,204 - 55,746,486RGDNCBI36
Celera657,299,443 - 57,299,729RGD
Cytogenetic Map6p12.1UniSTS
HuRef655,473,264 - 55,473,544UniSTS
Marshfield Genetic Map679.39RGD
Marshfield Genetic Map679.39UniSTS
Genethon Genetic Map679.4UniSTS
deCODE Assembly Map678.99UniSTS
Whitehead-YAC Contig Map6 UniSTS
RH35693  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37655,683,661 - 55,683,807UniSTSGRCh37
Build 36655,791,620 - 55,791,766RGDNCBI36
Celera657,344,866 - 57,345,012RGD
Cytogenetic Map6p12.1UniSTS
HuRef655,518,768 - 55,518,914UniSTS
Whitehead-YAC Contig Map6 UniSTS
RH71440  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37655,620,337 - 55,620,470UniSTSGRCh37
Build 36655,728,296 - 55,728,429RGDNCBI36
Celera657,281,545 - 57,281,678RGD
Cytogenetic Map6p12.1UniSTS
HuRef655,455,372 - 55,455,505UniSTS
GeneMap99-GB4 RH Map6208.71UniSTS
NCBI RH Map6728.3UniSTS
AL035197  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37655,626,001 - 55,626,182UniSTSGRCh37
Build 36655,733,960 - 55,734,141RGDNCBI36
Celera657,287,203 - 57,287,384RGD
Cytogenetic Map6p12.1UniSTS
HuRef655,461,025 - 55,461,206UniSTS
RH122491  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37655,643,818 - 55,644,100UniSTSGRCh37
Build 36655,751,777 - 55,752,059RGDNCBI36
Celera657,305,020 - 57,305,302RGD
Cytogenetic Map6p12.1UniSTS
HuRef655,478,835 - 55,479,117UniSTS
TNG Radiation Hybrid Map627757.0UniSTS
PMC56999P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37655,739,189 - 55,739,595UniSTSGRCh37
Build 36655,847,148 - 55,847,554RGDNCBI36
Celera657,400,393 - 57,400,799RGD
HuRef655,574,295 - 55,574,701UniSTS
D6S1276  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37655,715,057 - 55,715,251UniSTSGRCh37
Build 36655,823,016 - 55,823,210RGDNCBI36
Celera657,376,262 - 57,376,456RGD
Cytogenetic Map6p12.1UniSTS
HuRef655,550,164 - 55,550,358UniSTS
Marshfield Genetic Map678.85UniSTS
deCODE Assembly Map678.99UniSTS
Stanford-G3 RH Map62913.0UniSTS
Whitehead-RH Map6306.3UniSTS
Whitehead-YAC Contig Map6 UniSTS
NCBI RH Map6728.3UniSTS
STS-M60314  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37655,620,340 - 55,620,469UniSTSGRCh37
Build 36655,728,299 - 55,728,428RGDNCBI36
Celera657,281,548 - 57,281,677RGD
Cytogenetic Map6p12.1UniSTS
HuRef655,455,375 - 55,455,504UniSTS
GeneMap99-GB4 RH Map6220.09UniSTS
NCBI RH Map6728.3UniSTS


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 visual system adipose tissue appendage entire extraembryonic component
High
Medium 120 22 66 7 46 8 36 13 74 25 91 446 18 15 2
Low 1886 1004 1224 448 193 300 2482 2099 994 177 162 936 150 1 726 1715 1
Below cutoff 327 1348 349 123 451 110 1615 57 2112 105 840 94 20 437 986

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001329754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001329756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_021073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011514817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054356242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054356243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK291559 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL133386 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC027958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE501543 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ025899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA833638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC485577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M60314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S81957 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000370830   ⟹   ENSP00000359866
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl655,753,653 - 55,875,590 (-)Ensembl
RefSeq Acc Id: NM_001329754   ⟹   NP_001316683
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38655,753,653 - 55,875,590 (-)NCBI
T2T-CHM13v2.0655,593,278 - 55,715,204 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001329756   ⟹   NP_001316685
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38655,753,653 - 55,875,590 (-)NCBI
T2T-CHM13v2.0655,593,278 - 55,715,204 (-)NCBI
Sequence:
RefSeq Acc Id: NM_021073   ⟹   NP_066551
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38655,753,653 - 55,875,590 (-)NCBI
GRCh37655,618,451 - 55,740,388 (-)NCBI
Build 36655,728,195 - 55,848,334 (-)NCBI Archive
HuRef655,455,271 - 55,575,481 (-)ENTREZGENE
CHM1_1655,623,337 - 55,743,453 (-)NCBI
T2T-CHM13v2.0655,593,278 - 55,715,204 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011514817   ⟹   XP_011513119
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38655,766,350 - 55,875,590 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024446524   ⟹   XP_024302292
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38655,803,325 - 55,875,590 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054356242   ⟹   XP_054212217
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0655,605,968 - 55,715,204 (-)NCBI
RefSeq Acc Id: XM_054356243   ⟹   XP_054212218
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0655,642,944 - 55,715,204 (-)NCBI
RefSeq Acc Id: NP_066551   ⟸   NM_021073
- Peptide Label: isoform 1 preproprotein
- UniProtKB: Q9H547 (UniProtKB/Swiss-Prot),   B4E0Y4 (UniProtKB/Swiss-Prot),   Q9NTM5 (UniProtKB/Swiss-Prot),   P22003 (UniProtKB/Swiss-Prot),   M9VUD0 (UniProtKB/TrEMBL),   A8K694 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011513119   ⟸   XM_011514817
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001316685   ⟸   NM_001329756
- Peptide Label: isoform 3 precursor
- Sequence:
RefSeq Acc Id: NP_001316683   ⟸   NM_001329754
- Peptide Label: isoform 2 precursor
- UniProtKB: A8K694 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024302292   ⟸   XM_024446524
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000359866   ⟸   ENST00000370830
RefSeq Acc Id: XP_054212217   ⟸   XM_054356242
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054212218   ⟸   XM_054356243
- Peptide Label: isoform X2
Protein Domains
TGF-beta family profile

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P22003-F1-model_v2 AlphaFold P22003 1-454 view protein structure

Promoters
RGD ID:6803802
Promoter ID:HG_KWN:53910
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000041000
Position:
Human AssemblyChrPosition (strand)Source
Build 36655,848,061 - 55,848,561 (-)MPROMDB
RGD ID:7208379
Promoter ID:EPDNEW_H9936
Type:initiation region
Name:BMP5_1
Description:bone morphogenetic protein 5
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
GRCh38655,875,590 - 55,875,650EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1072 AgrOrtholog
COSMIC BMP5 COSMIC
Ensembl Genes ENSG00000112175 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000370830 ENTREZGENE
  ENST00000370830.4 UniProtKB/Swiss-Prot
Gene3D-CATH 2.10.90.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.120.970 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000112175 GTEx
HGNC ID HGNC:1072 ENTREZGENE
Human Proteome Map BMP5 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:653 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 653 ENTREZGENE
OMIM 112265 OMIM
PANTHER BONE MORPHOGENETIC PROTEIN 5 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 PA25382 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 A8K694 ENTREZGENE, UniProtKB/TrEMBL
  B4E0Y4 ENTREZGENE
  BMP5_HUMAN UniProtKB/Swiss-Prot
  M9VUD0 ENTREZGENE, UniProtKB/TrEMBL
  P22003 ENTREZGENE
  Q9H547 ENTREZGENE
  Q9NTM5 ENTREZGENE
UniProt Secondary B4E0Y4 UniProtKB/Swiss-Prot
  Q9H547 UniProtKB/Swiss-Prot
  Q9NTM5 UniProtKB/Swiss-Prot