BMP8B (bone morphogenetic protein 8b) - Rat Genome Database

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Gene: BMP8B (bone morphogenetic protein 8b) Homo sapiens
Analyze
Symbol: BMP8B
Name: bone morphogenetic protein 8b
RGD ID: 1353706
HGNC Page HGNC:1075
Description: Predicted to enable cytokine activity. Predicted to be involved in skeletal system development. Predicted to be located in extracellular region. Predicted to be active in extracellular space.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: BMP-8; BMP-8B; BMP8; bone morphogenetic protein 8 (osteogenic protein 2); dJ118J21.1 (bone morphogenetic protein 8 (osteogenic protein 2)); MGC131757; OP2; osteogenic protein 2
RGD Orthologs
Rat
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
GRCh38139,757,182 - 39,788,865 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl139,757,182 - 39,788,865 (-)EnsemblGRCh38hg38GRCh38
GRCh37140,222,854 - 40,254,537 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36139,996,490 - 40,027,120 (-)NCBINCBI36Build 36hg18NCBI36
Build 34139,892,995 - 39,923,626NCBI
Celera138,505,667 - 38,535,974 (-)NCBICelera
Cytogenetic Map1p34.2NCBI
HuRef138,342,589 - 38,373,254 (-)NCBIHuRef
CHM1_1140,339,343 - 40,370,012 (-)NCBICHM1_1
T2T-CHM13v2.0139,626,622 - 39,658,315 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1460021   PMID:7757816   PMID:9070944   PMID:10894154   PMID:11427739   PMID:12477932   PMID:15063762   PMID:16314833   PMID:16710414   PMID:17474147   PMID:20379614   PMID:20734064  
PMID:21145461   PMID:21873635   PMID:22579288   PMID:22658674   PMID:24076131   PMID:25176058   PMID:25401122   PMID:26186194   PMID:27748538   PMID:28514442   PMID:31096638   PMID:31940275  
PMID:32513696   PMID:32694734   PMID:33961781   PMID:34489410   PMID:34680872   PMID:35748872   PMID:38127951  


Genomics

Comparative Map Data
BMP8B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38139,757,182 - 39,788,865 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl139,757,182 - 39,788,865 (-)EnsemblGRCh38hg38GRCh38
GRCh37140,222,854 - 40,254,537 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36139,996,490 - 40,027,120 (-)NCBINCBI36Build 36hg18NCBI36
Build 34139,892,995 - 39,923,626NCBI
Celera138,505,667 - 38,535,974 (-)NCBICelera
Cytogenetic Map1p34.2NCBI
HuRef138,342,589 - 38,373,254 (-)NCBIHuRef
CHM1_1140,339,343 - 40,370,012 (-)NCBICHM1_1
T2T-CHM13v2.0139,626,622 - 39,658,315 (-)NCBIT2T-CHM13v2.0
Bmp8b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr85140,671,117 - 140,696,450 (+)NCBIGRCr8
mRatBN7.25135,386,058 - 135,411,337 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl5135,386,311 - 135,405,197 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.05140,803,387 - 140,821,104 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5140,803,638 - 140,820,628 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.05144,593,842 - 144,617,551 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45142,421,940 - 142,440,765 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera5133,924,782 - 133,944,474 (+)NCBICelera
Cytogenetic Map5q36NCBI
BMP8B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21187,032,756 - 187,068,111 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11186,170,395 - 186,205,482 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0139,047,766 - 39,079,496 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
LOC100855618
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1153,325,155 - 3,357,888 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha15336,664 - 356,571 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0153,445,260 - 3,478,199 (-)NCBIROS_Cfam_1.0
UNSW_CanFamBas_1.0153,382,407 - 3,415,167 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0153,399,027 - 3,430,895 (-)NCBIUU_Cfam_GSD_1.0
Bmp8b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505855,795,643 - 55,821,831 (-)NCBIHiC_Itri_2
SpeTri2.0NW_00493647421,620,425 - 21,646,190 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
BMP8B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1695,568,702 - 95,599,152 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2688,657,045 - 88,662,148 (-)NCBISscrofa10.2Sscrofa10.2susScr3
BMP8B
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12093,366,832 - 93,409,256 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366603323,706,565 - 23,738,597 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Bmp8b
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476422,238,386 - 22,273,750 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in BMP8B
54 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1p34.3-34.2(chr1:39360747-40900817)x3 copy number gain See cases [RCV000051815] Chr1:39360747..40900817 [GRCh38]
Chr1:39826419..41366489 [GRCh37]
Chr1:39599006..41139076 [NCBI36]
Chr1:1p34.3-34.2
pathogenic
GRCh38/hg38 1p34.3-33(chr1:39479787-47688131)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051817]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051817]|See cases [RCV000051817] Chr1:39479787..47688131 [GRCh38]
Chr1:39945459..48153803 [GRCh37]
Chr1:39718046..47926390 [NCBI36]
Chr1:1p34.3-33
pathogenic
GRCh38/hg38 1p34.3-34.1(chr1:38222737-45636176)x3 copy number gain See cases [RCV000051803] Chr1:38222737..45636176 [GRCh38]
Chr1:38688409..46101848 [GRCh37]
Chr1:38460996..45874435 [NCBI36]
Chr1:1p34.3-34.1
pathogenic
GRCh38/hg38 1p34.3-34.2(chr1:38108665-42327551)x1 copy number loss See cases [RCV000053805] Chr1:38108665..42327551 [GRCh38]
Chr1:38574337..42793222 [GRCh37]
Chr1:38346924..42565809 [NCBI36]
Chr1:1p34.3-34.2
pathogenic
GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3 copy number gain See cases [RCV000138891] Chr1:24381206..41401517 [GRCh38]
Chr1:24707696..41886350 [GRCh37]
Chr1:24580283..41658937 [NCBI36]
Chr1:1p36.11-34.2
pathogenic
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12
likely benign
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_022120.2(OXCT2):c.434T>A (p.Ile145Asn) single nucleotide variant not specified [RCV004316847] Chr1:39770822 [GRCh38]
Chr1:40236494 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_001720.5(BMP8B):c.347G>A (p.Arg116His) single nucleotide variant not specified [RCV004288576] Chr1:39775026 [GRCh38]
Chr1:40240698 [GRCh37]
Chr1:1p34.2
likely benign
NM_001720.5(BMP8B):c.700G>C (p.Gly234Arg) single nucleotide variant not specified [RCV004313458] Chr1:39764791 [GRCh38]
Chr1:40230463 [GRCh37]
Chr1:1p34.2
uncertain significance
GRCh37/hg19 1p34.3-34.2(chr1:40097132-40236108)x3 copy number gain not provided [RCV000709854] Chr1:40097132..40236108 [GRCh37]
Chr1:1p34.3-34.2
not provided
NC_000001.10:g.(?_33241563)_(46663513_?)dup duplication Charcot-Marie-Tooth disease dominant intermediate C [RCV000708276] Chr1:33241563..46663513 [GRCh37]
Chr1:1p35.1-34.1
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p34.2(chr1:40168865-40315888)x3 copy number gain not provided [RCV000736470] Chr1:40168865..40315888 [GRCh37]
Chr1:1p34.2
benign
NM_001720.5(BMP8B):c.827G>C (p.Ser276Thr) single nucleotide variant not provided [RCV000946461] Chr1:39764664 [GRCh38]
Chr1:40230336 [GRCh37]
Chr1:1p34.2
benign
NM_001720.5(BMP8B):c.1059+10A>G single nucleotide variant not provided [RCV000961002] Chr1:39763082 [GRCh38]
Chr1:40228754 [GRCh37]
Chr1:1p34.2
benign
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 copy number gain Global developmental delay [RCV000787285] Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1
uncertain significance
NM_001720.5(BMP8B):c.978G>A (p.Ser326=) single nucleotide variant not provided [RCV000894874] Chr1:39763173 [GRCh38]
Chr1:40228845 [GRCh37]
Chr1:1p34.2
benign|likely benign
GRCh37/hg19 1p34.3-34.2(chr1:40007947-40280565)x3 copy number gain not provided [RCV000845719] Chr1:40007947..40280565 [GRCh37]
Chr1:1p34.3-34.2
uncertain significance
NM_001720.5(BMP8B):c.1059+579A>G single nucleotide variant not provided [RCV000952805] Chr1:39762513 [GRCh38]
Chr1:40228185 [GRCh37]
Chr1:1p34.2
benign|likely benign
NM_001720.5(BMP8B):c.354G>A (p.Leu118=) single nucleotide variant not provided [RCV000952295] Chr1:39775019 [GRCh38]
Chr1:40240691 [GRCh37]
Chr1:1p34.2
likely benign
NM_001720.5(BMP8B):c.978G>C (p.Ser326=) single nucleotide variant not provided [RCV000901304] Chr1:39763173 [GRCh38]
Chr1:40228845 [GRCh37]
Chr1:1p34.2
likely benign
NC_000001.10:g.(?_33241563)_(46663513_?)dup duplication Charcot-Marie-Tooth disease, dominant intermediate C [RCV001308684] Chr1:33241563..46663513 [GRCh37]
Chr1:1p35.1-34.1
uncertain significance
GRCh37/hg19 1p34.3-34.2(chr1:39340597-40603856)x1 copy number loss not provided [RCV001270633] Chr1:39340597..40603856 [GRCh37]
Chr1:1p34.3-34.2
uncertain significance
GRCh37/hg19 1p35.1-33(chr1:33285582-47891811) copy number gain not specified [RCV002052781] Chr1:33285582..47891811 [GRCh37]
Chr1:1p35.1-33
pathogenic
GRCh37/hg19 1p34.3-34.2(chr1:38679545-42556292) copy number loss not specified [RCV002053269] Chr1:38679545..42556292 [GRCh37]
Chr1:1p34.3-34.2
likely pathogenic
NM_001720.5(BMP8B):c.908G>A (p.Arg303Gln) single nucleotide variant not specified [RCV004111761] Chr1:39763752 [GRCh38]
Chr1:40229424 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_001720.5(BMP8B):c.253G>A (p.Ala85Thr) single nucleotide variant not specified [RCV004213070] Chr1:39788233 [GRCh38]
Chr1:40253905 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_022120.2(OXCT2):c.1375G>A (p.Gly459Arg) single nucleotide variant not specified [RCV004140691] Chr1:39769881 [GRCh38]
Chr1:40235553 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_022120.2(OXCT2):c.1417T>C (p.Phe473Leu) single nucleotide variant not specified [RCV004153877] Chr1:39769839 [GRCh38]
Chr1:40235511 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_001720.5(BMP8B):c.346C>T (p.Arg116Cys) single nucleotide variant not specified [RCV004116347] Chr1:39775027 [GRCh38]
Chr1:40240699 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_022120.2(OXCT2):c.1337C>T (p.Thr446Ile) single nucleotide variant not specified [RCV004130000] Chr1:39769919 [GRCh38]
Chr1:40235591 [GRCh37]
Chr1:1p34.2
likely benign
NM_022120.2(OXCT2):c.1259T>C (p.Met420Thr) single nucleotide variant not specified [RCV004170474] Chr1:39769997 [GRCh38]
Chr1:40235669 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_001720.5(BMP8B):c.343G>T (p.Asp115Tyr) single nucleotide variant not specified [RCV004123827] Chr1:39775030 [GRCh38]
Chr1:40240702 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_022120.2(OXCT2):c.470C>A (p.Thr157Asn) single nucleotide variant not specified [RCV004112873] Chr1:39770786 [GRCh38]
Chr1:40236458 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_001720.5(BMP8B):c.1198G>A (p.Gly400Ser) single nucleotide variant not specified [RCV004200864] Chr1:39760430 [GRCh38]
Chr1:40226102 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_001720.5(BMP8B):c.381G>C (p.Glu127Asp) single nucleotide variant not specified [RCV004158588] Chr1:39774992 [GRCh38]
Chr1:40240664 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_001720.5(BMP8B):c.896A>G (p.Gln299Arg) single nucleotide variant not specified [RCV004208554] Chr1:39763764 [GRCh38]
Chr1:40229436 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_001720.5(BMP8B):c.371A>G (p.His124Arg) single nucleotide variant not specified [RCV004196172] Chr1:39775002 [GRCh38]
Chr1:40240674 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_022120.2(OXCT2):c.1207A>G (p.Lys403Glu) single nucleotide variant not specified [RCV004107655] Chr1:39770049 [GRCh38]
Chr1:40235721 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_022120.2(OXCT2):c.635G>T (p.Gly212Val) single nucleotide variant not specified [RCV004179744] Chr1:39770621 [GRCh38]
Chr1:40236293 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_001720.5(BMP8B):c.807G>C (p.Arg269Ser) single nucleotide variant not specified [RCV004145148] Chr1:39764684 [GRCh38]
Chr1:40230356 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_022120.2(OXCT2):c.137C>G (p.Pro46Arg) single nucleotide variant not specified [RCV004094695] Chr1:39771119 [GRCh38]
Chr1:40236791 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_001720.5(BMP8B):c.851G>A (p.Arg284Gln) single nucleotide variant not specified [RCV004195858] Chr1:39764640 [GRCh38]
Chr1:40230312 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_001720.5(BMP8B):c.287A>G (p.Glu96Gly) single nucleotide variant not specified [RCV004075505] Chr1:39788199 [GRCh38]
Chr1:40253871 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_001720.5(BMP8B):c.262G>C (p.Asp88His) single nucleotide variant not specified [RCV004071011] Chr1:39788224 [GRCh38]
Chr1:40253896 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_001720.5(BMP8B):c.181C>G (p.Arg61Gly) single nucleotide variant not specified [RCV004090994] Chr1:39788305 [GRCh38]
Chr1:40253977 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_022120.2(OXCT2):c.34G>C (p.Gly12Arg) single nucleotide variant not specified [RCV004181892] Chr1:39771222 [GRCh38]
Chr1:40236894 [GRCh37]
Chr1:1p34.2
likely benign
NM_001720.5(BMP8B):c.1094C>T (p.Ala365Val) single nucleotide variant not specified [RCV004080793] Chr1:39760534 [GRCh38]
Chr1:40226206 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_022120.2(OXCT2):c.194G>C (p.Gly65Ala) single nucleotide variant not specified [RCV004187439] Chr1:39771062 [GRCh38]
Chr1:40236734 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_022120.2(OXCT2):c.1051C>G (p.Pro351Ala) single nucleotide variant not specified [RCV004175158] Chr1:39770205 [GRCh38]
Chr1:40235877 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_022120.2(OXCT2):c.1519C>T (p.Pro507Ser) single nucleotide variant not specified [RCV004071133] Chr1:39769737 [GRCh38]
Chr1:40235409 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_022120.2(OXCT2):c.667T>A (p.Phe223Ile) single nucleotide variant not specified [RCV004195349] Chr1:39770589 [GRCh38]
Chr1:40236261 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_022120.2(OXCT2):c.937G>T (p.Gly313Cys) single nucleotide variant not specified [RCV004089289] Chr1:39770319 [GRCh38]
Chr1:40235991 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_001720.5(BMP8B):c.724C>T (p.Arg242Cys) single nucleotide variant not specified [RCV004221257] Chr1:39764767 [GRCh38]
Chr1:40230439 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_022120.2(OXCT2):c.113T>C (p.Leu38Pro) single nucleotide variant not specified [RCV004077688] Chr1:39771143 [GRCh38]
Chr1:40236815 [GRCh37]
Chr1:1p34.2
likely benign
NM_001720.5(BMP8B):c.779G>A (p.Arg260His) single nucleotide variant not specified [RCV004177742] Chr1:39764712 [GRCh38]
Chr1:40230384 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_001720.5(BMP8B):c.1031C>T (p.Ala344Val) single nucleotide variant not specified [RCV004264642] Chr1:39763120 [GRCh38]
Chr1:40228792 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_022120.2(OXCT2):c.68C>T (p.Ala23Val) single nucleotide variant not specified [RCV004255499] Chr1:39771188 [GRCh38]
Chr1:40236860 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_001720.5(BMP8B):c.1075C>A (p.Pro359Thr) single nucleotide variant not specified [RCV004273692] Chr1:39760553 [GRCh38]
Chr1:40226225 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_001720.5(BMP8B):c.274G>T (p.Gly92Cys) single nucleotide variant not specified [RCV004255839] Chr1:39788212 [GRCh38]
Chr1:40253884 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_022120.2(OXCT2):c.1392C>A (p.Asp464Glu) single nucleotide variant not specified [RCV004323261] Chr1:39769864 [GRCh38]
Chr1:40235536 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_001720.5(BMP8B):c.113C>T (p.Ala38Val) single nucleotide variant not specified [RCV004341279] Chr1:39788373 [GRCh38]
Chr1:40254045 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_001720.5(BMP8B):c.1095G>A (p.Ala365=) single nucleotide variant not provided [RCV003406391] Chr1:39760533 [GRCh38]
Chr1:40226205 [GRCh37]
Chr1:1p34.2
likely benign
NM_001720.5(BMP8B):c.385C>T (p.Arg129Cys) single nucleotide variant not specified [RCV004339071] Chr1:39774988 [GRCh38]
Chr1:40240660 [GRCh37]
Chr1:1p34.2
uncertain significance
Single allele inversion Bilateral polymicrogyria [RCV003459046] Chr1:33246132..61045156 [GRCh38]
Chr1:1p35.1-31.3
likely pathogenic
NM_001720.5(BMP8B):c.673+3659A>G single nucleotide variant not provided [RCV003406393] Chr1:39770649 [GRCh38]
Chr1:40236321 [GRCh37]
Chr1:1p34.2
likely benign
NM_001720.5(BMP8B):c.889G>A (p.Gly297Ser) single nucleotide variant not provided [RCV003406392] Chr1:39763771 [GRCh38]
Chr1:40229443 [GRCh37]
Chr1:1p34.2
likely benign
NM_022120.2(OXCT2):c.1510G>C (p.Ala504Pro) single nucleotide variant not specified [RCV004497377] Chr1:39769746 [GRCh38]
Chr1:40235418 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_001720.5(BMP8B):c.106C>G (p.Leu36Val) single nucleotide variant not specified [RCV004433911] Chr1:39788380 [GRCh38]
Chr1:40254052 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_001720.5(BMP8B):c.1180A>C (p.Met394Leu) single nucleotide variant not specified [RCV004433912] Chr1:39760448 [GRCh38]
Chr1:40226120 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_001720.5(BMP8B):c.773C>T (p.Pro258Leu) single nucleotide variant not specified [RCV004433917] Chr1:39764718 [GRCh38]
Chr1:40230390 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_022120.2(OXCT2):c.833G>T (p.Arg278Leu) single nucleotide variant not specified [RCV004497386] Chr1:39770423 [GRCh38]
Chr1:40236095 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_022120.2(OXCT2):c.904A>G (p.Ile302Val) single nucleotide variant not specified [RCV004497389] Chr1:39770352 [GRCh38]
Chr1:40236024 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_022120.2(OXCT2):c.1387G>C (p.Val463Leu) single nucleotide variant not specified [RCV004497376] Chr1:39769869 [GRCh38]
Chr1:40235541 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_022120.2(OXCT2):c.661G>A (p.Val221Met) single nucleotide variant not specified [RCV004497382] Chr1:39770595 [GRCh38]
Chr1:40236267 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_022120.2(OXCT2):c.86C>A (p.Ala29Asp) single nucleotide variant not specified [RCV004497387] Chr1:39771170 [GRCh38]
Chr1:40236842 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_022120.2(OXCT2):c.964A>G (p.Ile322Val) single nucleotide variant not specified [RCV004497390] Chr1:39770292 [GRCh38]
Chr1:40235964 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_022120.2(OXCT2):c.241C>T (p.Arg81Cys) single nucleotide variant not specified [RCV004497379] Chr1:39771015 [GRCh38]
Chr1:40236687 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_022120.2(OXCT2):c.544C>G (p.Leu182Val) single nucleotide variant not specified [RCV004497381] Chr1:39770712 [GRCh38]
Chr1:40236384 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_001720.5(BMP8B):c.130G>C (p.Val44Leu) single nucleotide variant not specified [RCV004433913] Chr1:39788356 [GRCh38]
Chr1:40254028 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_001720.5(BMP8B):c.682G>A (p.Val228Met) single nucleotide variant not specified [RCV004433916] Chr1:39764809 [GRCh38]
Chr1:40230481 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_001720.5(BMP8B):c.818C>A (p.Pro273Gln) single nucleotide variant not specified [RCV004433919] Chr1:39764673 [GRCh38]
Chr1:40230345 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_022120.2(OXCT2):c.172A>T (p.Thr58Ser) single nucleotide variant not specified [RCV004497378] Chr1:39771084 [GRCh38]
Chr1:40236756 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_022120.2(OXCT2):c.80G>T (p.Gly27Val) single nucleotide variant not specified [RCV004497385] Chr1:39771176 [GRCh38]
Chr1:40236848 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_022120.2(OXCT2):c.250G>C (p.Asp84His) single nucleotide variant not specified [RCV004497380] Chr1:39771006 [GRCh38]
Chr1:40236678 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_022120.2(OXCT2):c.794A>G (p.Tyr265Cys) single nucleotide variant not specified [RCV004497384] Chr1:39770462 [GRCh38]
Chr1:40236134 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_001720.5(BMP8B):c.784C>T (p.Pro262Ser) single nucleotide variant not specified [RCV004433918] Chr1:39764707 [GRCh38]
Chr1:40230379 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_022120.2(OXCT2):c.670A>G (p.Arg224Gly) single nucleotide variant not specified [RCV004497383] Chr1:39770586 [GRCh38]
Chr1:40236258 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_001720.5(BMP8B):c.487G>A (p.Val163Ile) single nucleotide variant not specified [RCV004433914] Chr1:39774886 [GRCh38]
Chr1:40240558 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_001720.5(BMP8B):c.680G>A (p.Ser227Asn) single nucleotide variant not specified [RCV004433915] Chr1:39764811 [GRCh38]
Chr1:40230483 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_001720.5(BMP8B):c.214T>A (p.Ser72Thr) single nucleotide variant not specified [RCV004339545] Chr1:39788272 [GRCh38]
Chr1:40253944 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_001720.5(BMP8B):c.1175G>T (p.Arg392Leu) single nucleotide variant not specified [RCV004350373] Chr1:39760453 [GRCh38]
Chr1:40226125 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_001720.5(BMP8B):c.1055C>A (p.Ser352Tyr) single nucleotide variant not specified [RCV004365715] Chr1:39763096 [GRCh38]
Chr1:40228768 [GRCh37]
Chr1:1p34.2
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1602
Count of miRNA genes:899
Interacting mature miRNAs:1063
Transcripts:ENST00000372827, ENST00000397360
Prediction methods:Miranda, Rnahybrid
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
RH93165  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37140,229,395 - 40,229,555UniSTSGRCh37
GRCh37139,987,983 - 39,988,143UniSTSGRCh37
Build 36139,760,570 - 39,760,730RGDNCBI36
Celera138,269,821 - 38,269,981RGD
Celera138,511,159 - 38,511,319UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p35-p32UniSTS
Cytogenetic Map1p32UniSTS
HuRef138,348,110 - 38,348,270UniSTS
HuRef138,107,179 - 38,107,339UniSTS
GeneMap99-GB4 RH Map1119.2UniSTS
D1S168  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37140,227,858 - 40,228,025UniSTSGRCh37
GRCh37139,989,533 - 39,989,714UniSTSGRCh37
Build 36139,762,120 - 39,762,301RGDNCBI36
Celera138,271,371 - 38,271,552RGD
Celera138,509,622 - 38,509,789UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p35-p32UniSTS
Cytogenetic Map1p32UniSTS
HuRef138,346,544 - 38,346,711UniSTS
HuRef138,108,732 - 38,108,915UniSTS
BMP8B_2501  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37140,223,705 - 40,224,304UniSTSGRCh37
Build 36139,996,292 - 39,996,891RGDNCBI36
Celera138,505,469 - 38,506,068RGD
HuRef138,342,391 - 38,342,990UniSTS
AL010109  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37140,234,020 - 40,234,117UniSTSGRCh37
GRCh37139,983,421 - 39,983,518UniSTSGRCh37
Build 36139,756,008 - 39,756,105RGDNCBI36
Celera138,265,255 - 38,265,352RGD
Celera138,515,788 - 38,515,885UniSTS
Cytogenetic Map1p35-p32UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1p34.3UniSTS
HuRef138,352,735 - 38,352,832UniSTS
HuRef138,102,613 - 38,102,710UniSTS


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 pharyngeal arch
High 1
Medium 154 23 105 9 181 9 698 43 658 32 87 175 15 622
Low 2273 2174 1328 413 1318 253 3025 1325 3004 318 1364 1421 172 1 1144 1582 2 2
Below cutoff 11 794 282 196 436 197 632 827 68 64 6 11 2 45 584 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005271149 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011542022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011542024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011542025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017002155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017002156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054338448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054338449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054338450 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054338451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054338452 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054338453 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008486154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008486155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_946748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_946749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_946750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB075489 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL033527 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL049824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY303955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC023526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC080618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC108678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ888513 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  F07575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000372827   ⟹   ENSP00000361915
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl139,757,182 - 39,788,865 (-)Ensembl
RefSeq Acc Id: NM_001720   ⟹   NP_001711
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38139,757,182 - 39,788,865 (-)NCBI
GRCh37140,223,903 - 40,254,533 (-)NCBI
Build 36139,996,490 - 40,027,120 (-)NCBI Archive
Celera138,505,667 - 38,535,974 (-)RGD
HuRef138,342,589 - 38,373,254 (-)ENTREZGENE
CHM1_1140,339,343 - 40,370,012 (-)NCBI
T2T-CHM13v2.0139,626,622 - 39,658,315 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005271149   ⟹   XP_005271206
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38139,772,854 - 39,788,865 (-)NCBI
GRCh37140,223,903 - 40,254,533 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011542022   ⟹   XP_011540324
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38139,762,169 - 39,788,865 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011542024   ⟹   XP_011540326
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38139,757,182 - 39,788,865 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011542025   ⟹   XP_011540327
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38139,772,854 - 39,788,865 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017002155   ⟹   XP_016857644
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38139,762,169 - 39,788,865 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017002156   ⟹   XP_016857645
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38139,772,854 - 39,788,865 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024449299   ⟹   XP_024305067
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38139,762,169 - 39,779,985 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054338448   ⟹   XP_054194423
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0139,631,609 - 39,658,315 (-)NCBI
RefSeq Acc Id: XM_054338449   ⟹   XP_054194424
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0139,626,622 - 39,649,429 (-)NCBI
RefSeq Acc Id: XM_054338450   ⟹   XP_054194425
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0139,634,267 - 39,658,315 (-)NCBI
RefSeq Acc Id: XM_054338451   ⟹   XP_054194426
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0139,631,609 - 39,649,429 (-)NCBI
RefSeq Acc Id: XM_054338452   ⟹   XP_054194427
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0139,642,292 - 39,658,315 (-)NCBI
RefSeq Acc Id: XM_054338453   ⟹   XP_054194428
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0139,642,292 - 39,658,315 (-)NCBI
RefSeq Acc Id: XR_008486154
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0139,642,292 - 39,658,315 (-)NCBI
RefSeq Acc Id: XR_008486155
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0139,642,292 - 39,658,315 (-)NCBI
RefSeq Acc Id: XR_946748
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38139,772,854 - 39,788,865 (-)NCBI
Sequence:
RefSeq Acc Id: XR_946749
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38139,772,854 - 39,788,865 (-)NCBI
Sequence:
RefSeq Acc Id: XR_946750
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38139,772,854 - 39,788,865 (-)NCBI
Sequence:
RefSeq Acc Id: NP_001711   ⟸   NM_001720
- Peptide Label: preproprotein
- UniProtKB: Q53ZM7 (UniProtKB/Swiss-Prot),   Q32NE5 (UniProtKB/Swiss-Prot),   E7EMY8 (UniProtKB/Swiss-Prot),   Q9NUF0 (UniProtKB/Swiss-Prot),   P34820 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005271206   ⟸   XM_005271149
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_011540324   ⟸   XM_011542022
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011540326   ⟸   XM_011542024
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011540327   ⟸   XM_011542025
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_016857644   ⟸   XM_017002155
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016857645   ⟸   XM_017002156
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_024305067   ⟸   XM_024449299
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: ENSP00000361915   ⟸   ENST00000372827
RefSeq Acc Id: XP_054194424   ⟸   XM_054338449
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054194423   ⟸   XM_054338448
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054194426   ⟸   XM_054338451
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054194425   ⟸   XM_054338450
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054194428   ⟸   XM_054338453
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054194427   ⟸   XM_054338452
- Peptide Label: isoform X5

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P34820-F1-model_v2 AlphaFold P34820 1-402 view protein structure

Promoters
RGD ID:6855084
Promoter ID:EPDNEW_H707
Type:initiation region
Name:BMP8B_1
Description:bone morphogenetic protein 8b
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
GRCh38139,788,855 - 39,788,915EPDNEW
RGD ID:6784710
Promoter ID:HG_KWN:2172
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000025641,   UC001CEA.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36140,027,091 - 40,027,591 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1075 AgrOrtholog
COSMIC BMP8B COSMIC
Ensembl Genes ENSG00000116985 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000372827 ENTREZGENE
  ENST00000372827.8 UniProtKB/Swiss-Prot
Gene3D-CATH 2.10.90.10 UniProtKB/Swiss-Prot
  2.60.120.970 UniProtKB/Swiss-Prot
GTEx ENSG00000116985 GTEx
HGNC ID HGNC:1075 ENTREZGENE
Human Proteome Map BMP8B Human Proteome Map
InterPro Cystine-knot_cytokine UniProtKB/Swiss-Prot
  TGF-b_C UniProtKB/Swiss-Prot
  TGF-b_propeptide UniProtKB/Swiss-Prot
  TGF-beta-rel UniProtKB/Swiss-Prot
  TGFb_CS UniProtKB/Swiss-Prot
KEGG Report hsa:656 UniProtKB/Swiss-Prot
NCBI Gene 656 ENTREZGENE
OMIM 602284 OMIM
PANTHER BONE MORPHOGENETIC PROTEIN 8A-RELATED UniProtKB/Swiss-Prot
  PTHR11848 UniProtKB/Swiss-Prot
Pfam TGF_beta UniProtKB/Swiss-Prot
  TGFb_propeptide UniProtKB/Swiss-Prot
PharmGKB PA25385 PharmGKB
PRINTS INHIBINA UniProtKB/Swiss-Prot
PROSITE TGF_BETA_1 UniProtKB/Swiss-Prot
  TGF_BETA_2 UniProtKB/Swiss-Prot
SMART TGFB UniProtKB/Swiss-Prot
Superfamily-SCOP SSF57501 UniProtKB/Swiss-Prot
UniProt BMP8B_HUMAN UniProtKB/Swiss-Prot
  E7EMY8 ENTREZGENE
  P34820 ENTREZGENE
  Q32NE5 ENTREZGENE
  Q53ZM7 ENTREZGENE
  Q9NUF0 ENTREZGENE
UniProt Secondary E7EMY8 UniProtKB/Swiss-Prot
  Q32NE5 UniProtKB/Swiss-Prot
  Q53ZM7 UniProtKB/Swiss-Prot
  Q9NUF0 UniProtKB/Swiss-Prot