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    BAMBI BMP and activin membrane bound inhibitor [ Homo sapiens (human) ]

    Gene ID: 25805, updated on 5-Mar-2024

    Summary

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    Official Symbol
    BAMBIprovided by HGNC
    Official Full Name
    BMP and activin membrane bound inhibitorprovided by HGNC
    Primary source
    HGNC:HGNC:30251
    See related
    Ensembl:ENSG00000095739 MIM:604444; AllianceGenome:HGNC:30251
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NMA
    Summary
    This gene encodes a transmembrane glycoprotein related to the type I receptors of the transforming growth factor-beta (TGF-beta) family, whose members play important roles in signal transduction in many developmental and pathological processes. The encoded protein however is a pseudoreceptor, lacking an intracellular serine/threonine kinase domain required for signaling. Similar proteins in frog, mouse and zebrafish function as negative regulators of TGF-beta, which has led to the suggestion that the encoded protein may function to limit the signaling range of the TGF-beta family during early embryogenesis. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in ovary (RPKM 40.8), adrenal (RPKM 26.5) and 15 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    10p12.1
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (28677521..28682932)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (28708908..28714318)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (28966450..28971861)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene TP53RK binding protein pseudogene 1 Neighboring gene NANOG hESC enhancer GRCh37_chr10:28957669-28958170 Neighboring gene RNA, U6 small nuclear 1067, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2257 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:28967203-28967347 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:28972804-28973712 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:28989321-28989822 Neighboring gene uncharacterized LOC105376470 Neighboring gene uncharacterized LOC107984170 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:29010913-29011414

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Expression and Function of BMP and Activin Membrane-Bound Inhibitor (BAMBI) in Chronic Liver Diseases and Hepatocellular Carcinoma. Weber F, et al. Int J Mol Sci, 2023 Feb 9. PMID 36834884, Free PMC Article
    2. BMP and activin membrane-bound inhibitor regulate connective tissue growth factor controlling mesothelioma cell proliferation. Hoang NTD, et al. BMC Cancer, 2022 Sep 15. PMID 36109807, Free PMC Article
    3. Adipose-specific BMP and activin membrane-bound inhibitor (BAMBI) deletion promotes adipogenesis by accelerating ROS production. Chen X, et al. J Biol Chem, 2021 Jan-Jun. PMID 33158991, Free PMC Article
    4. BAMBI regulates macrophages inducing the differentiation of Treg through the TGF-β pathway in chronic obstructive pulmonary disease. Sun SW, et al. Respir Res, 2019 Feb 6. PMID 30728014, Free PMC Article
    5. BAMBI promotes macrophage proliferation and differentiation in gliomas. Wang D, et al. Mol Med Rep, 2018 Mar. PMID 29286116

    See all (59) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The association of RBX1 and BAMBI gene expression with oocyte maturation in PCOS women.
      Title: The association of RBX1 and BAMBI gene expression with oocyte maturation in PCOS women.
    2. Epitranscriptional regulation of TGF-beta pseudoreceptor BAMBI by m6A/YTHDF2 drives extrinsic radioresistance.
      Title: Epitranscriptional regulation of TGF-β pseudoreceptor BAMBI by m6A/YTHDF2 drives extrinsic radioresistance.
    3. Increased Levels of BAMBI Inhibit Canonical TGF-beta Signaling in Chronic Wound Tissues.
      Title: Increased Levels of BAMBI Inhibit Canonical TGF-β Signaling in Chronic Wound Tissues.
    4. Circular RNA circSP5 promotes liver metastasis of colorectal cancer via SP5-mediated BAMBI transcription.
      Title: Circular RNA circSP5 promotes liver metastasis of colorectal cancer via SP5-mediated BAMBI transcription.
    5. Hypoxia-responsive PPARGC1A/BAMBI/ACSL5 axis promotes progression and resistance to lenvatinib in hepatocellular carcinoma.
      Title: Hypoxia-responsive PPARGC1A/BAMBI/ACSL5 axis promotes progression and resistance to lenvatinib in hepatocellular carcinoma.
    6. The regulatory effect of the YY1/miR-HCC2/BAMBI axis on the stemness of liver cancer cells.
      Title: The regulatory effect of the YY1/miR‑HCC2/BAMBI axis on the stemness of liver cancer cells.
    7. Expression and Function of BMP and Activin Membrane-Bound Inhibitor (BAMBI) in Chronic Liver Diseases and Hepatocellular Carcinoma.
      Title: Expression and Function of BMP and Activin Membrane-Bound Inhibitor (BAMBI) in Chronic Liver Diseases and Hepatocellular Carcinoma.
    8. miR-125a-3p aggravates ox-LDL-induced HUVEC injury through BAMBI.
      Title: miR-125a-3p aggravates ox-LDL-induced HUVEC injury through BAMBI.
    9. BMP and activin membrane-bound inhibitor regulate connective tissue growth factor controlling mesothelioma cell proliferation.
      Title: BMP and activin membrane-bound inhibitor regulate connective tissue growth factor controlling mesothelioma cell proliferation.
    10. Circ_0093887 regulated ox-LDL induced human aortic endothelial cells viability, apoptosis, and inflammation through modulating miR-758-3p/BAMBI axis in atherosclerosis.
      Title: Circ_0093887 regulated ox-LDL induced human aortic endothelial cells viability, apoptosis, and inflammation through modulating miR-758-3p/BAMBI axis in atherosclerosis.
    Submit: New GeneRIF Correction See all GeneRIFs (44)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study of pre-eclampsia detects novel maternal single nucleotide polymorphisms and copy-number variants in subsets of the Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study cohort.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables frizzled binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables frizzled binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables type II transforming growth factor beta receptor binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell migration IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within negative regulation of BMP signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of negative regulation of osteoblast differentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of transforming growth factor beta receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of transforming growth factor beta receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of canonical Wnt signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of canonical Wnt signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of cell population proliferation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of epithelial to mesenchymal transition IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of protein binding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of cell shape IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in transforming growth factor beta receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    BMP and activin membrane-bound inhibitor homolog
    Names
    non-metastatic gene A protein
    putative transmembrane protein NMA

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_012342.3 → NP_036474.1  BMP and activin membrane-bound inhibitor homolog precursor

      See identical proteins and their annotated locations for NP_036474.1

      Status: REVIEWED

      Source sequence(s)
      AI680996, BQ640107, U23070
      Consensus CDS
      CCDS7162.1
      UniProtKB/Swiss-Prot
      Q13145
      UniProtKB/TrEMBL
      Q53G66
      Related
      ENSP00000364683.3, ENST00000375533.6
      Conserved Domains (1) summary
      pfam06211
      Location:4 → 111
      BAMBI; BMP and activin membrane-bound inhibitor (BAMBI) N-terminal domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      28677521..28682932
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      28708908..28714318
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q13145.1 GenPept UniProtKB/Swiss-Prot:Q13145

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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