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GeneBe

BMP8B

bone morphogenetic protein 8b, the group of Bone morphogenetic proteins

Basic information

Region (hg38): 1:39757181-39788865

Previous symbols: [ "BMP8" ]

Links

ENSG00000116985NCBI:656OMIM:602284HGNC:1075Uniprot:P34820AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the BMP8B gene.

  • Inborn genetic diseases (44 variants)
  • not provided (9 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BMP8B gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous
3
clinvar
1
clinvar
4
missense
25
clinvar
2
clinvar
1
clinvar
28
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
15
clinvar
5
clinvar
1
clinvar
21
Total 0 0 40 10 3

Variants in BMP8B

This is a list of pathogenic ClinVar variants found in the BMP8B region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
1-39760430-C-T not specified Uncertain significance (Oct 12, 2021)2359152
1-39760448-T-G not specified Uncertain significance (Sep 26, 2023)3134578
1-39760453-C-A not specified Uncertain significance (Sep 13, 2023)2603342
1-39760533-C-T Likely benign (Dec 01, 2022)2638715
1-39760534-G-A not specified Uncertain significance (Jul 13, 2021)2216896
1-39760553-G-T not specified Uncertain significance (Feb 27, 2023)2490046
1-39762513-T-C Benign/Likely benign (Sep 01, 2023)773107
1-39763082-T-C Benign (May 03, 2018)780000
1-39763096-G-T not specified Uncertain significance (Sep 12, 2023)2622244
1-39763120-G-A not specified Uncertain significance (Jan 06, 2023)2474070
1-39763173-C-G Likely benign (Mar 29, 2018)727024
1-39763173-C-T Benign/Likely benign (Jan 01, 2024)721373
1-39763752-C-T not specified Uncertain significance (Sep 27, 2021)2252236
1-39763764-T-C not specified Uncertain significance (Nov 18, 2022)2375346
1-39763771-C-T Likely benign (Dec 01, 2022)2638716
1-39764640-C-T not specified Uncertain significance (Nov 12, 2021)2358023
1-39764664-C-G Benign (Aug 11, 2017)767667
1-39764673-G-T not specified Uncertain significance (Dec 28, 2023)3134585
1-39764684-C-G not specified Uncertain significance (Jun 24, 2022)2296288
1-39764707-G-A not specified Uncertain significance (Oct 13, 2023)3134584
1-39764712-C-T not specified Uncertain significance (Dec 15, 2022)2335188
1-39764718-G-A not specified Uncertain significance (Sep 16, 2021)3134583
1-39764767-G-A not specified Uncertain significance (Sep 22, 2021)2380748
1-39764791-C-G not specified Uncertain significance (Apr 20, 2023)2539357
1-39764809-C-T not specified Uncertain significance (Jan 03, 2024)3134582

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
BMP8Bprotein_codingprotein_codingENST00000372827 731680
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.0001900.7291257320151257470.0000596
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.6671461710.8560.00001082537
Missense in Polyphen4153.9860.75945736
Synonymous0.8496271.10.8720.00000478846
Loss of Function0.964710.30.6775.39e-7157

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00009070.0000905
Ashkenazi Jewish0.000.00
East Asian0.00005440.0000544
Finnish0.000.00
European (Non-Finnish)0.00008820.0000879
Middle Eastern0.00005440.0000544
South Asian0.00006530.0000653
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Induces cartilage and bone formation. May be the osteoinductive factor responsible for the phenomenon of epithelial osteogenesis. Plays a role in calcium regulation and bone homeostasis (By similarity). {ECO:0000250}.;
Pathway
TGF-beta signaling pathway - Homo sapiens (human);Thermogenesis - Homo sapiens (human);Hippo signaling pathway - Homo sapiens (human);TGF-Core;GPCR signaling-G alpha q;GPCR signaling-cholera toxin;GPCR signaling-pertussis toxin;TGF-beta super family signaling pathway canonical;GPCR signaling-G alpha s Epac and ERK;GPCR signaling-G alpha s PKA and ERK;GPCR signaling-G alpha i;BMP2 signaling TGF-beta MV;BMP signaling Dro (Consensus)

Recessive Scores

pRec
0.262

Haploinsufficiency Scores

pHI
0.417
hipred
Y
hipred_score
0.516
ghis
0.406

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.825

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Bmp8b
Phenotype
cellular phenotype; endocrine/exocrine gland phenotype; growth/size/body region phenotype; embryo phenotype; immune system phenotype; reproductive system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span);

Gene ontology

Biological process
skeletal system development;ossification;regulation of signaling receptor activity;positive regulation of pathway-restricted SMAD protein phosphorylation;BMP signaling pathway;regulation of apoptotic process;regulation of MAPK cascade;cell development;cartilage development;SMAD protein signal transduction
Cellular component
extracellular space
Molecular function
cytokine activity;transforming growth factor beta receptor binding;growth factor activity;BMP receptor binding