BMP8A

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

Basic information

Region (hg38): 1:39491635-39529869

Links

ENSG00000183682 ∙ NCBI:353500 ∙ ∙ HGNC:21650 ∙ Uniprot:Q7Z5Y6 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the BMP8A gene.

• Inborn genetic diseases (24 variants)
• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BMP8A 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				1		1
missense			22	2	1	25
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	22	3	1

Variants in BMP8A

This is a list of pathogenic ClinVar variants found in the BMP8A region.

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

Position	Type	Phenotype	Significance	ClinVar
1-39492001-C-A		not specified	Uncertain significance (Jan 04, 2022)
1-39492053-G-A		not specified	Uncertain significance (Nov 02, 2023)
1-39492076-C-G		not specified	Uncertain significance (Jul 26, 2022)
1-39492167-G-A		not specified	Uncertain significance (Jun 18, 2021)
1-39492215-T-G		not specified	Uncertain significance (Jan 16, 2024)
1-39492247-G-A			Likely benign (Jan 01, 2024)
1-39492252-C-G		not specified	Uncertain significance (Dec 11, 2023)
1-39492272-C-T		not specified	Uncertain significance (Dec 05, 2022)
1-39492318-C-T			Likely benign (Jul 01, 2022)
1-39511252-G-A		not specified	Uncertain significance (Dec 05, 2022)
1-39511270-C-T		not specified	Uncertain significance (Apr 25, 2022)
1-39511333-T-C		not specified	Uncertain significance (Oct 24, 2023)
1-39511832-G-A		not specified	Uncertain significance (Dec 18, 2023)
1-39511860-G-A		not specified	Uncertain significance (Mar 17, 2023)
1-39511898-G-A		not specified	Uncertain significance (Feb 16, 2023)
1-39521384-G-A		not specified	Uncertain significance (Oct 10, 2023)
1-39521402-G-A		not specified	Uncertain significance (Jun 13, 2022)
1-39521444-G-A		not specified	Likely benign (Jun 29, 2023)
1-39521490-G-A		not specified	Uncertain significance (Apr 14, 2022)
1-39521492-G-A		not specified	Uncertain significance (Sep 22, 2022)
1-39521520-C-T		not specified	Uncertain significance (May 23, 2023)
1-39522412-G-A			Benign (Jun 06, 2017)
1-39522430-A-G		not specified	Uncertain significance (Mar 31, 2022)
1-39522438-C-T		not specified	Uncertain significance (Dec 14, 2023)
1-39522439-G-A		not specified	Uncertain significance (Jul 08, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
BMP8A	protein_coding	protein_coding	ENST00000331593	7	34290

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000198	0.467	125729	0	12	125741	0.0000477

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.27	128	175	0.730	0.0000110	2537
Missense in Polyphen		54	72.924	0.74049		962
Synonymous	0.143	73	74.6	0.979	0.00000516	845
Loss of Function	0.670	10	12.6	0.796	7.01e-7	166

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000222	0.000214
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000191	0.0000176
Middle Eastern	0.00	0.00
South Asian	0.000163	0.000163
Other	0.00	0.00

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). Signaling protein involved in regulation of thermogenesis and energy balance. Proposed to increase the peripheral response of brown adipose tissue (BAT) to adrenergic stimulation while acting centrally in the hypothalamus to increase sympathetic output to BAT. {ECO:0000250, ECO:0000269|PubMed:22579288}.
• Pathway: TGF-beta signaling pathway - Homo sapiens (human);Thermogenesis - Homo sapiens (human);Hippo signaling pathway - Homo sapiens (human) (Consensus)

Recessive Scores

• pRec: 0.139

Haploinsufficiency Scores

• pHI: 0.183
• hipred: Y
• hipred_score: 0.568

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.170

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	High
Cancer	High	Medium	High

Mouse Genome Informatics

• Gene name: Bmp8a
• Phenotype: endocrine/exocrine gland phenotype; cellular phenotype; immune system phenotype; reproductive system phenotype

Gene ontology

• Biological process: ossification;diet induced thermogenesis;regulation of signaling receptor activity;positive regulation of pathway-restricted SMAD protein phosphorylation;BMP signaling pathway;regulation of apoptotic process;regulation of MAPK cascade;negative regulation of insulin secretion;cell development;cartilage development;SMAD protein signal transduction;energy homeostasis
• Cellular component: extracellular space
• Molecular function: cytokine activity;transforming growth factor beta receptor binding;growth factor activity;BMP receptor binding