Details for: BMP8A

Gene ID: 353500

Gene Type:  Protein-coding  - A gene that serves as a template for producing a messenger RNA (mRNA) molecule, which is then translated into a functional protein.

Symbol: BMP8A

Ensembl ID: ENSG00000183682

Description: bone morphogenetic protein 8a

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Cell Significance Landscape

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Cell Significance Index (CSI) scores for the chosen context(s)

  • near-projecting glutamatergic cortical neuron CL4023012
    CSI 0.95
    rCSI 3.61%
    PRS 99.53

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
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Other Information

This section provides additional information about the gene, including a description generated by an AI language model and details about associated proteins.

## Summary [BMP8A](/details-gene/353500), or Bone Morphogenetic Protein 8A, is a protein-coding gene located on human chromosome 1p34.3. As a member of the TGF-beta superfamily, [BMP8A](/details-gene/353500) functions as a secreted signaling molecule, acting as both a cytokine and a growth factor. While classically associated with skeletal processes such as cartilage development and ossification, functional annotations suggest a broader role in cell differentiation, energy homeostasis, and the negative regulation of insulin secretion. Expression data indicates a significant role for [BMP8A](/details-gene/353500) within the central nervous system, particularly in [near-projecting glutamatergic cortical neuron](/details-cell/CL4023012), highlighting a potentially crucial, non-skeletal function for this protein. ## Cellular Roles and Expression Landscape The expression profile of [BMP8A](/details-gene/353500) points towards a specialized role within the central nervous system. - **Overall**, the most significant expression is observed in [near-projecting glutamatergic cortical neuron](/details-cell/CL4023012) (CSI: 0.95). This high level of significance suggests that [BMP8A](/details-gene/353500) may be involved in establishing or maintaining the specific functional identity of this neuronal subtype. This finding is notable given the gene's canonical association with bone and cartilage formation, suggesting that its functions are highly context-dependent. Its role may extend to neuronal development, synaptic plasticity, or neuromodulation within specific cortical circuits. The limited scope of the current data precludes a broader definition of its expression landscape or specificity against other cell lineages. ## Pathways and Molecular Function [BMP8A](/details-gene/353500) is annotated as a secreted protein found in the [extracellular space](/details-go/GO:0005615) and exhibits both [cytokine activity](/details-go/GO:0005125) and [growth factor activity](/details-go/GO:0008083). These molecular functions underpin its involvement in a diverse set of biological processes via signal transduction ([GO:0007165](https://www.ebi.ac.uk/QuickGO/term/GO:0007165)). - **Development and Differentiation:** Consistent with its family name, [BMP8A](/details-gene/353500) is implicated in skeletal development, including [cartilage development](/details-go/GO:0051216) and [ossification](/details-go/GO:0001503), as well as general [cell differentiation](/details-go/GO:0030154). Research has also shown it can suppress the luteinization of granulosa cells, indicating a role in reproductive tissue differentiation ([Link](https://doi.org/10.1530/rep-19-0305)). - **Metabolic Regulation:** [BMP8A](/details-gene/353500) appears to be a key regulator of metabolism. It is involved in [energy homeostasis](/details-go/GO:0097009) and specifically in [diet induced thermogenesis](/details-go/GO:0002024). This is consistent with studies on the related protein BMP8B, which was shown to increase brown adipose tissue thermogenesis through both central and peripheral actions ([Link](https://doi.org/10.1016/j.cell.2012.02.066)). Furthermore, it participates in the [negative regulation of insulin secretion](/details-go/GO:0046676), suggesting a role in glucose homeostasis. The combined evidence portrays [BMP8A](/details-gene/353500) as a pleiotropic signaling molecule whose function bridges developmental biology and metabolic control. ## Research Directions The significant expression of [BMP8A](/details-gene/353500) in a specific neuronal subtype, juxtaposed with its well-documented roles in metabolic and reproductive tissues, opens several avenues for future investigation. Its function appears to be highly context-dependent, warranting further exploration of its role in the central nervous system. **Proposed Hypotheses:** 1. Given its high significance in [near-projecting glutamatergic cortical neuron](/details-cell/CL4023012) and its general function in differentiation, [BMP8A](/details-gene/353500) may play a critical role in the specification, synaptic maturation, or functional maintenance of this neuronal population. 2. Considering its established role in energy homeostasis and the central nervous system's function in regulating metabolism, cortical expression of [BMP8A](/details-gene/353500) could be part of a neuro-metabolic circuit that senses and controls peripheral energy balance, potentially influencing thermogenesis in adipose tissue or glucose homeostasis. **Experimental Approach:** To test the first hypothesis regarding the role of [BMP8A](/details-gene/353500) in cortical neuron function, a loss-of-function study could be performed using an *in vitro* model. Human induced pluripotent stem cells (iPSCs) could be differentiated into cortical glutamatergic neurons. During differentiation, CRISPR-Cas9-mediated knockout of [BMP8A](/details-gene/353500) could be performed. The resulting knockout neurons could then be compared to isogenic controls, assessing changes in neuronal morphology via immunocytochemistry, synaptic function using multi-electrode array (MEA) recordings, and gene expression profiles through single-cell RNA sequencing to identify downstream pathways. **Therapeutic Potential:** As a secreted protein, [BMP8A](/details-gene/353500) is an accessible therapeutic target. Its potential is multifaceted. Agonists or recombinant [BMP8A](/details-gene/353500) could be explored for treating metabolic disorders, such as obesity or type 2 diabetes, by promoting thermogenesis and regulating insulin secretion. Conversely, its role in specific neuronal populations warrants caution, as systemic administration could have unintended neurological side effects. Future therapeutic strategies would require highly targeted delivery systems or a deeper understanding of its receptor distribution to develop agents that can selectively modulate its activity in metabolic versus neural tissues.

Genular Protein ID: 493799008

Symbol: BMP8A_HUMAN

Name: Bone morphogenetic protein 8A

UniProtKB Accession Codes:

Q7Z5Y6 Q5T3A5

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 2 Ensembl 1 GO 9 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MINT 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PRINTS 1 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 RefSeq 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

PubMed ID: 22579288

Title: BMP8B increases brown adipose tissue thermogenesis through both central and peripheral actions.

PubMed ID: 22579288

DOI: 10.1016/j.cell.2012.02.066

PubMed ID: 31940275

Title: Human BMP8A suppresses luteinization of rat granulosa cells via the SMAD1/5/8 pathway.

PubMed ID: 31940275

DOI: 10.1530/rep-19-0305

Sequence Information:

  • Length: 402
  • Mass: 44798
  • Checksum: F50E2C06D261E31E
  • Sequence:
    • MAARPGPLWL LGLTLCALGG GGPGLRPPPG CPQRRLGARE RRDVQREILA VLGLPGRPRP 
RAPPAASRLP ASAPLFMLDL YHAMAGDDDE DGAPAEQRLG RADLVMSFVN MVERDRALGH 
QEPHWKEFRF DLTQIPAGEA VTAAEFRIYK VPSIHLLNRT LHVSMFQVVQ EQSNRESDLF 
FLDLQTLRAG DEGWLVLDVT AASDCWLLKR HKDLGLRLYV ETEDGHSVDP GLAGLLGQRA 
PRSQQPFVVT FFRASPSPIR TPRAVRPLRR RQPKKSNELP QANRLPGIFD DVRGSHGRQV 
CRRHELYVSF QDLGWLDWVI APQGYSAYYC EGECSFPLDS CMNATNHAIL QSLVHLMKPN 
AVPKACCAPT KLSATSVLYY DSSNNVILRK HRNMVVKACG CH