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Aliases for BAMBI Gene

Aliases for BAMBI Gene

  • BMP And Activin Membrane Bound Inhibitor 2 3 5
  • Putative Transmembrane Protein NMA 3 4
  • Non-Metastatic Gene A Protein 3 4
  • NMA 3 4
  • BMP And Activin Membrane-Bound Inhibitor Homolog (Xenopus Laevis) 2
  • BMP And Activin Membrane-Bound Inhibitor Homolog 3

External Ids for BAMBI Gene

Previous GeneCards Identifiers for BAMBI Gene

  • GC10P028970
  • GC10P029006
  • GC10P028967

Summaries for BAMBI Gene

Entrez Gene Summary for BAMBI Gene

  • 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]

GeneCards Summary for BAMBI Gene

BAMBI (BMP And Activin Membrane Bound Inhibitor) is a Protein Coding gene. Diseases associated with BAMBI include Wolfram Syndrome and Cohen Syndrome. Among its related pathways are TGF-beta signaling pathway (KEGG) and TGF-beta receptor signaling activates SMADs. Gene Ontology (GO) annotations related to this gene include frizzled binding and transmembrane receptor protein serine/threonine kinase activity.

UniProtKB/Swiss-Prot for BAMBI Gene

  • Negatively regulates TGF-beta signaling.

Gene Wiki entry for BAMBI Gene

Additional gene information for BAMBI Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BAMBI Gene

Genomics for BAMBI Gene

GeneHancer (GH) Regulatory Elements for BAMBI Gene

Promoters and enhancers for BAMBI Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J028675 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 658.2 +2.0 1969 7.3 HDGF PKNOX1 FOXA2 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 POLR2B BAMBI WAC-AS1 RNU6-270P LYZL1 WAC LOC105376470
GH10J028805 Enhancer 1.4 Ensembl ENCODE dbSUPER 13.5 +130.4 130352 3.6 ATF1 PKNOX1 FOXA2 ARNT DMAP1 NCOA2 YY1 TCF12 ZNF766 GATA2 ENSG00000271220 BAMBI RNU6-270P C10orf126 LINC01517 PIR51335 PIRC48
GH10J028809 Enhancer 1.2 Ensembl ENCODE dbSUPER 13.2 +133.3 133251 1.9 HDGF TAF9B RB1 NFRKB FOS ZBTB11 CEBPB ELF1 ZNF592 ZNF148 ENSG00000271220 BAMBI C10orf126 RNU6-270P LYZL1 PIR51335 PIRC48 LINC01517
GH10J028531 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 5.4 -144.1 -144136 4 HDGF PKNOX1 SMAD1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 WAC-AS1 WAC BAMBI PIR60646
GH10J028822 Enhancer 1.1 ENCODE dbSUPER 10.7 +145.8 145835 1.5 HDGF PKNOX1 SMAD1 ATF1 ARNT ZFP64 TCF12 ZNF766 GATA2 ARID2 C10orf126 BAMBI RNU6-270P ENSG00000271220 GC10M030086 LINC01517
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BAMBI on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the BAMBI gene promoter:
  • TBP
  • USF1
  • USF-1
  • Sox9
  • AhR
  • Arnt
  • POU2F1
  • POU2F1a
  • POU2F1b
  • POU2F1c

Genomic Locations for BAMBI Gene

Genomic Locations for BAMBI Gene
5,598 bases
Plus strand
5,598 bases
Plus strand

Genomic View for BAMBI Gene

Genes around BAMBI on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BAMBI Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BAMBI Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BAMBI Gene

Proteins for BAMBI Gene

  • Protein details for BAMBI Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    BMP and activin membrane-bound inhibitor homolog
    Protein Accession:

    Protein attributes for BAMBI Gene

    260 amino acids
    Molecular mass:
    29108 Da
    Quaternary structure:
    No Data Available

neXtProt entry for BAMBI Gene

Post-translational modifications for BAMBI Gene

  • Glycosylation at posLast=114114 and posLast=8787
  • Ubiquitination at Lys241
  • Modification sites at PhosphoSitePlus

Other Protein References for BAMBI Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for BAMBI

No data available for DME Specific Peptides for BAMBI Gene

Domains & Families for BAMBI Gene

Gene Families for BAMBI Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted membrane proteins

Protein Domains for BAMBI Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the BAMBI family.
  • Belongs to the BAMBI family.
genes like me logo Genes that share domains with BAMBI: view

Function for BAMBI Gene

Molecular function for BAMBI Gene

UniProtKB/Swiss-Prot Function:
Negatively regulates TGF-beta signaling.

Phenotypes From GWAS Catalog for BAMBI Gene

Gene Ontology (GO) - Molecular Function for BAMBI Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005109 frizzled binding IPI 18838381
GO:0005114 type II transforming growth factor beta receptor binding TAS 18756595
genes like me logo Genes that share ontologies with BAMBI: view
genes like me logo Genes that share phenotypes with BAMBI: view

Animal Models for BAMBI Gene

MGI Knock Outs for BAMBI:

Animal Model Products

miRNA for BAMBI Gene

miRTarBase miRNAs that target BAMBI

Clone Products

  • Addgene plasmids for BAMBI

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for BAMBI Gene

Localization for BAMBI Gene

Subcellular locations from UniProtKB/Swiss-Prot for BAMBI Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BAMBI gene
Compartment Confidence
plasma membrane 5
extracellular 2
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Lipid droplets (2)
  • Nucleoli fibrillar center (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for BAMBI Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 10942595
GO:0005886 plasma membrane IDA,TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with BAMBI: view

Pathways & Interactions for BAMBI Gene

genes like me logo Genes that share pathways with BAMBI: view

SIGNOR curated interactions for BAMBI Gene


Gene Ontology (GO) - Biological Process for BAMBI Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008284 positive regulation of cell proliferation IMP 18838381
GO:0008360 regulation of cell shape IMP 19328798
GO:0010718 positive regulation of epithelial to mesenchymal transition IMP 19328798
GO:0016477 cell migration IDA 19328798
GO:0030512 negative regulation of transforming growth factor beta receptor signaling pathway TAS --
genes like me logo Genes that share ontologies with BAMBI: view

Drugs & Compounds for BAMBI Gene

(1) Drugs for BAMBI Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for BAMBI Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with BAMBI: view

Transcripts for BAMBI Gene

mRNA/cDNA for BAMBI Gene

(1) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(235) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for BAMBI Gene

BMP and activin membrane-bound inhibitor homolog (Xenopus laevis):
Representative Sequences:

Clone Products

  • Addgene plasmids for BAMBI

Alternative Splicing Database (ASD) splice patterns (SP) for BAMBI Gene

No ASD Table

Relevant External Links for BAMBI Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for BAMBI Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BAMBI Gene

mRNA differential expression in normal tissues according to GTEx for BAMBI Gene

This gene is overexpressed in Ovary (x5.7) and Heart - Atrial Appendage (x4.5).

Protein differential expression in normal tissues from HIPED for BAMBI Gene

This gene is overexpressed in Platelet (39.0) and Urine (30.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for BAMBI Gene

Protein tissue co-expression partners for BAMBI Gene

NURSA nuclear receptor signaling pathways regulating expression of BAMBI Gene:


SOURCE GeneReport for Unigene cluster for BAMBI Gene:


mRNA Expression by UniProt/SwissProt for BAMBI Gene:

Tissue specificity: High expression in kidney medulla, placenta and spleen; low in kidney cortex, liver, prostate and gut. Not expressed in normal skin, expression is high in melanocytes and in 3 out of 11 melanoma metastases tested.

Evidence on tissue expression from TISSUES for BAMBI Gene

  • Nervous system(4.7)
  • Lung(2.3)
genes like me logo Genes that share expression patterns with BAMBI: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for BAMBI Gene

Orthologs for BAMBI Gene

This gene was present in the common ancestor of chordates.

Orthologs for BAMBI Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia BAMBI 34 33
  • 99.02 (n)
(Ornithorhynchus anatinus)
Mammalia BAMBI 34
  • 93 (a)
(Canis familiaris)
Mammalia BAMBI 34 33
  • 92.05 (n)
(Monodelphis domestica)
Mammalia BAMBI 34
  • 92 (a)
(Rattus norvegicus)
Mammalia Bambi 33
  • 88.85 (n)
(Mus musculus)
Mammalia Bambi 16 34 33
  • 88.33 (n)
(Bos Taurus)
Mammalia BAMBI 34 33
  • 87.56 (n)
(Gallus gallus)
Aves BAMBI 34 33
  • 85.97 (n)
(Anolis carolinensis)
Reptilia BAMBI 34
  • 86 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia bambi 33
  • 75.9 (n)
Str.6638 33
(Danio rerio)
Actinopterygii bambia 34 33
  • 70.12 (n)
bambib 34
  • 68 (a)
bambi 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5360 33
Species where no ortholog for BAMBI was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for BAMBI Gene

Gene Tree for BAMBI (if available)
Gene Tree for BAMBI (if available)
Evolutionary constrained regions (ECRs) for BAMBI: view image

Paralogs for BAMBI Gene

(1) SIMAP similar genes for BAMBI Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with BAMBI: view

No data available for Paralogs for BAMBI Gene

Variants for BAMBI Gene

Sequence variations from dbSNP and Humsavar for BAMBI Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs1000060792 -- 28,677,355(+) C/A/G upstream_transcript_variant
rs1000127316 -- 28,677,877(+) C/T 5_prime_UTR_variant
rs1000433337 -- 28,677,274(+) C/T upstream_transcript_variant
rs1000503559 -- 28,679,974(+) TTAG/TTAGTTAG intron_variant
rs1000898993 -- 28,679,567(+) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for BAMBI Gene

Variant ID Type Subtype PubMed ID
esv2734606 CNV deletion 23290073

Variation tolerance for BAMBI Gene

Residual Variation Intolerance Score: 43.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.61; 30.96% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BAMBI Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BAMBI Gene

Disorders for BAMBI Gene

MalaCards: The human disease database

(9) MalaCards diseases for BAMBI Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search BAMBI in MalaCards View complete list of genes associated with diseases

Additional Disease Information for BAMBI

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with BAMBI: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BAMBI Gene

Publications for BAMBI Gene

  1. Expression of nma, a novel gene, inversely correlates with the metastatic potential of human melanoma cell lines and xenografts. (PMID: 8621228) Degen WG … Bloemers HP (International journal of cancer 1996) 2 3 4 22 58
  2. Human BAMBI cooperates with Smad7 to inhibit transforming growth factor-beta signaling. (PMID: 19758997) Yan X … Chen YG (The Journal of biological chemistry 2009) 2 3 22 58
  3. Polymorphisms in the transforming growth factor beta 1 pathway in relation to colorectal cancer progression. (PMID: 19998449) Försti A … Lenner P (Genes, chromosomes & cancer 2010) 3 44 58
  4. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PMID: 20634891) Jugessur A … Murray JC (PloS one 2010) 3 44 58
  5. The pseudoreceptor BMP and activin membrane-bound inhibitor positively modulates Wnt/beta-catenin signaling. (PMID: 18838381) Lin Z … Chen YG (The Journal of biological chemistry 2008) 3 22 58

Products for BAMBI Gene

Sources for BAMBI Gene

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