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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

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 megalencephalic leukoencephalopathy with subcortical cysts. Among its related pathways are TGF-beta signaling pathway (KEGG) and Wnt signaling pathway (KEGG). 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

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

Genomics for BAMBI Gene

Regulatory Elements for BAMBI Gene

Enhancers for BAMBI Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around BAMBI on UCSC Golden Path with GeneCards custom track

Promoters for BAMBI Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around BAMBI on UCSC Golden Path with GeneCards custom track

Genomic Location for BAMBI Gene

Chromosome:
10
Start:
28,677,342 bp from pter
End:
28,682,939 bp from pter
Size:
5,598 bases
Orientation:
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:
    Q13145-BAMBI_HUMAN
    Recommended name:
    BMP and activin membrane-bound inhibitor homolog
    Protein Accession:
    Q13145

    Protein attributes for BAMBI Gene

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

neXtProt entry for BAMBI Gene

Proteomics data for BAMBI Gene at MOPED

Post-translational modifications for BAMBI Gene

  • Ubiquitination at Lys 241
  • Glycosylation at Asn 87 and Ser 114
  • Modification sites at PhosphoSitePlus

Other Protein References for BAMBI Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for BAMBI Gene

Domains & Families for BAMBI Gene

Protein Domains for BAMBI Gene

Suggested Antigen Peptide Sequences for BAMBI Gene

Graphical View of Domain Structure for InterPro Entry

Q13145

UniProtKB/Swiss-Prot:

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

No data available for Gene Families for BAMBI Gene

Function for BAMBI Gene

Molecular function for BAMBI Gene

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

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for BAMBI

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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

COMPARTMENTS
Jensen Localization Image for BAMBI Gene COMPARTMENTS Subcellular localization image for BAMBI gene
Compartment Confidence
plasma membrane 5
extracellular 1
nucleus 1

No data available for Gene Ontology (GO) - Cellular Components for BAMBI Gene

Pathways & Interactions for BAMBI Gene

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

Pathways by source for BAMBI Gene

SIGNOR curated interactions for BAMBI Gene

Activates:

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:0035413 positive regulation of catenin import into nucleus IMP 18838381
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

Unigene Clusters for BAMBI Gene

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

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for BAMBI

Flow Cytometry Products

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

No ASD Table

Relevant External Links for BAMBI Gene

GeneLoc Exon Structure for
BAMBI
ECgene alternative splicing isoforms for
BAMBI

Expression for BAMBI Gene

mRNA expression in normal human tissues 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, PaxDb, and MOPED for BAMBI Gene



SOURCE GeneReport for Unigene cluster for BAMBI Gene Hs.533336

mRNA Expression by UniProt/SwissProt for BAMBI Gene

Q13145-BAMBI_HUMAN
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.
genes like me logo Genes that share expression patterns with BAMBI: view

Protein tissue co-expression partners for BAMBI Gene

Primer Products

In Situ Assay Products

Orthologs for BAMBI Gene

This gene was present in the common ancestor of chordates.

Orthologs for BAMBI Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia BAMBI 35
  • 87.56 (n)
  • 94.62 (a)
BAMBI 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BAMBI 35
  • 92.05 (n)
  • 96.54 (a)
BAMBI 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bambi 35
  • 88.33 (n)
  • 93.08 (a)
Bambi 16
Bambi 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia BAMBI 35
  • 99.02 (n)
  • 98.73 (a)
BAMBI 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bambi 35
  • 88.85 (n)
  • 95.77 (a)
oppossum
(Monodelphis domestica)
Mammalia BAMBI 36
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BAMBI 36
  • 93 (a)
OneToOne
chicken
(Gallus gallus)
Aves BAMBI 35
  • 85.97 (n)
  • 93.44 (a)
BAMBI 36
  • 93 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BAMBI 36
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bambi 35
  • 75.9 (n)
  • 84.23 (a)
Str.6638 35
zebrafish
(Danio rerio)
Actinopterygii bambi 35
bambia 35
  • 70.12 (n)
  • 77.29 (a)
bambia 36
  • 75 (a)
OneToMany
bambib 36
  • 68 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5360 35
Species with no ortholog for BAMBI:
  • 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

ENSEMBL:
Gene Tree for BAMBI (if available)
TreeFam:
Gene Tree for BAMBI (if available)

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 Sequence Context AA Info Type
rs1153 -- 28,682,600(-) ATTTT(A/T)AAAGC utr-variant-3-prime
rs1888085 -- 28,677,565(+) TGCTG(C/G/T)GGAGA utr-variant-5-prime
rs3758362 -- 28,676,476(+) GCTCT(C/G)GCAGA upstream-variant-2KB
rs3758364 -- 28,676,737(+) TTTGC(C/T)AGCCA upstream-variant-2KB
rs3758365 -- 28,676,844(+) TAGCC(C/G)GCTAC upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
esv2734606 CNV Deletion 23290073
nsv894990 CNV Loss 21882294

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)

Relevant External Links for BAMBI Gene

HapMap Linkage Disequilibrium report
BAMBI
Human Gene Mutation Database (HGMD)
BAMBI

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: Novoseek and GeneCards

Disorder Aliases PubMed IDs
wolfram syndrome
  • diabetes mellitus and insipidus with optic atrophy and deafness
megalencephalic leukoencephalopathy with subcortical cysts
  • vacuolating megalencephalic leukoencephalopathy with subcortical cysts
cohen syndrome
  • coh1
3-methylglutaconic aciduria, type iii
  • optic atrophy plus syndrome
gnathodiaphyseal dysplasia
  • levin syndrome 2
- elite association - COSMIC cancer census association via MalaCards
Search BAMBI in MalaCards View complete list of genes associated with diseases

Relevant External Links for BAMBI

Genetic Association Database (GAD)
BAMBI
Human Genome Epidemiology (HuGE) Navigator
BAMBI
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BAMBI
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 W.G.J. … Bloemers H.P.J. (Int. J. Cancer 1996) 2 3 4 23 67
  2. Human BAMBI cooperates with Smad7 to inhibit transforming growth factor-beta signaling. (PMID: 19758997) Yan X. … Chen Y.G. (J. Biol. Chem. 2009) 2 3 23
  3. The pseudoreceptor BMP and activin membrane-bound inhibitor positively modulates Wnt/beta-catenin signaling. (PMID: 18838381) Lin Z. … Chen Y.G. (J. Biol. Chem. 2008) 3 23
  4. Transcriptional regulation of the TGF-beta pseudoreceptor BAMBI by TGF-beta signaling. (PMID: 15240101) Sekiya T. … Akiyama T. (Biochem. Biophys. Res. Commun. 2004) 3 23
  5. Expression of BAMBI and its combination with Smad7 correlates with tumor invasion and poor prognosis in gastric cancer. (PMID: 24752577) Zhang Y. … Sun M. (Tumour Biol. 2014) 3

Products for BAMBI Gene

Sources for BAMBI Gene

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