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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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