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BAMBI Gene

protein-coding   GIFtS: 61
GCID: GC10P028967

BMP And Activin Membrane-Bound Inhibitor

(Previous name: BMP and activin membrane-bound inhibitor homolog (Xenopus...)
  See BAMBI-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
BMP And Activin Membrane-Bound Inhibitor1 2
NMA2 3 5
Non-Metastatic Gene A Protein2 3
Putative Transmembrane Protein NMA2 3
BMP And Activin Membrane-Bound Inhibitor Homolog (Xenopus Laevis)1
BMP And Activin Membrane-Bound Inhibitor Homolog2

External Ids:    HGNC: 302511   Entrez Gene: 258052   Ensembl: ENSG000000957397   OMIM: 6044445   UniProtKB: Q131453   

Export aliases for BAMBI gene to outside databases

Previous GC identifers: GC10P028970 GC10P029006 GC10P028685


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 cohen syndrome, and gnathodiaphyseal dysplasia. GO annotations related to this gene include type II transforming growth factor beta receptor binding and frizzled binding.

UniProtKB/Swiss-Prot: BAMBI_HUMAN, Q13145
Function: Negatively regulates TGF-beta signaling

Gene Wiki entry for BAMBI Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000010.10  NC_018921.2  NT_008705.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the BAMBI gene promoter:
         AhR   TBP   USF1   Arnt   POU2F1   POU2F1b   USF-1   POU2F1a   Sox9   POU2F1c   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBAMBI promoter sequence
   Search Chromatin IP Primers for BAMBI

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BAMBI


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10p12.3-p11.2   Ensembl cytogenetic band:  10p12.1   HGNC cytogenetic band: 10p12.3-p11.2

BAMBI Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BAMBI gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P028967:  view genomic region     (about GC identifiers)

Start:
28,966,271 bp from pter      End:
28,971,868 bp from pter
Size:
5,598 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: BAMBI_HUMAN, Q13145 (See protein sequence)
Recommended Name: BMP and activin membrane-bound inhibitor homolog precursor  
Size: 260 amino acids; 29108 Da
Developmental stage: Expression in poorly metastatic human melanoma cell lines; no expression in highly metastatic
human melanoma cell lines

Explore the universe of human proteins at neXtProt for BAMBI: NX_Q13145

Explore proteomics data for BAMBI at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys241
  • Glycosylation2 at Asn87, Ser114
  • Modification sites at PhosphoSitePlus

  • See BAMBI Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_036474.1  
    ENSEMBL proteins: 
     ENSP00000364683  
    Reactome Protein details: Q13145

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    BAMBI Antibody Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR009345 BMP/activin_membr-bound_inhib

    Graphical View of Domain Structure for InterPro Entry Q13145

    ProtoNet protein and cluster: Q13145

    1 Blocks protein domain: IPB009345 BMP and activin membrane-bound inhibitor

    UniProtKB/Swiss-Prot: BAMBI_HUMAN, Q13145
    Similarity: Belongs to the BAMBI family


    Find genes that share domains with BAMBI           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: BAMBI_HUMAN, Q13145
    Function: Negatively regulates TGF-beta signaling

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004675transmembrane receptor protein serine/threonine kinase activity ----
    GO:0005024transforming growth factor beta-activated receptor activity ----
    GO:0005109frizzled binding IPI18838381
    GO:0005114type II transforming growth factor beta receptor binding TAS18756595
         
    Find genes that share ontologies with BAMBI           About GenesLikeMe


    Phenotypes:
         7 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Bambi):
     behavior/neurological  craniofacial  growth/size/body  integument  limbs/digits/tail 
     normal  skeleton 

    Find genes that share phenotypes with BAMBI           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for BAMBI: Bambitm1Mahu Bambitm1.1Jian

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for BAMBI
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for BAMBI

    miRNA
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    miRTarBase miRNAs that target BAMBI:
    hsa-mir-760 (MIRT036797), hsa-mir-20b-5p (MIRT004121), hsa-mir-1180-3p (MIRT035922), hsa-mir-106b-5p (MIRT044317), hsa-mir-484 (MIRT042246), hsa-mir-16-5p (MIRT051298), hsa-mir-374b-5p (MIRT016041), hsa-mir-15b-5p (MIRT046515), hsa-mir-10a-5p (MIRT025596)

    Block miRNA regulation of human, mouse, rat BAMBI using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate BAMBI (see all 32):
    hsa-miR-3678-3p hsa-miR-142-5p hsa-miR-520e hsa-miR-302d hsa-miR-106a hsa-miR-500a hsa-miR-3142 hsa-miR-372
    SwitchGear 3'UTR luciferase reporter plasmidBAMBI 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat BAMBI

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    GenScript: all cDNA clones in your preferred vector: BAMBI (NM_012342)
    Sino Biological Human cDNA Clone for BAMBI
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BAMBI
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BAMBI

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BAMBI


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    BAMBI_HUMAN, Q13145: Membrane; Single-pass type I membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA10942595
    GO:0005886plasma membrane TAS--
    GO:0016020membrane ----
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with BAMBI           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for BAMBI About   (see all 11)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Loss of Function of SMAD2/3 in Cancer
    Loss of Function of SMAD2/3 in Cancer0.60
    TGFBR1 KD Mutants in Cancer0.60
    Loss of Function of SMAD4 in Cancer0.60
    SMAD2/3 MH2 Domain Mutants in Cancer0.60
    TGFBR2 MSI Frameshift Mutants in Cancer0.60
    SMAD2/3 Phosphorylation Motif Mutants in Cancer0.60
    Signaling by TGF-beta Receptor Complex in Cancer0.60
    SMAD4 MH2 Domain Mutants in Cancer0.60
    2TGF-beta receptor signaling activates SMADs
    Downregulation of TGF-beta receptor signaling0.82
    TGF-beta receptor signaling activates SMADs0.82
    3Signaling by GPCR
    Signal Transduction0.58
    4Packaging Of Telomere Ends
    Signal transduction Activin A signaling regulation0.40
    5Wnt signaling pathway (KEGG)
    Wnt signaling pathway0.40


    Find genes that share SuperPaths with BAMBI           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for BAMBI
        Signal transduction Activin A signaling regulation

    3 BioSystems Pathways for BAMBI
        TGF Beta Signaling Pathway
    BMP receptor signaling
    TGF-beta receptor signaling

    1 Sino Biological Pathway for BAMBI
        TGF-beta Signaling Pathway

    1 Reactome Pathway for BAMBI
        Downregulation of TGF-beta receptor signaling


    2 Kegg Pathways  (Kegg details for BAMBI):
        Wnt signaling pathway
    TGF-beta signaling pathway

        Pathway & Disease-focused RT2 Profiler PCR Array including BAMBI: 
              TGFB/BMP Signaling Pathway in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for BAMBI

    STRING Interaction Network Preview (showing 5 interactants - click image to see 23)

    Selected Interacting proteins for BAMBI (Q131452, 3 ENSP000003646834) via UniProtKB, MINT, STRING, and/or I2D (see all 23)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SOX30O949932, 3, ENSP000002650074MINT-66314 I2D: score=5 STRING: ENSP00000265007
    SEP15O606132, 3, ENSP000003287294MINT-8270077 I2D: score=2 STRING: ENSP00000328729
    AHSGENSP000003938874STRING: ENSP00000393887
    BMP2ENSP000003681044STRING: ENSP00000368104
    BMP4ENSP000002454514STRING: ENSP00000245451
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007179transforming growth factor beta receptor signaling pathway TAS--
    GO:0008284positive regulation of cell proliferation IMP18838381
    GO:0008360regulation of cell shape IMP19328798
    GO:0010718positive regulation of epithelial to mesenchymal transition IMP19328798
    GO:0016477cell migration IDA19328798

    Find genes that share ontologies with BAMBI           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for BAMBI

    2 Novoseek inferred chemical compound relationships for BAMBI gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tungsten 60.2 2 10679252 (1), 10739754 (1)
    tyrosine 0 2 8954911 (1), 10068471 (1)



    Find genes that share compounds with BAMBI           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for BAMBI gene: 
    NM_012342.2  

    Unigene Cluster for BAMBI:

    BMP and activin membrane-bound inhibitor homolog (Xenopus laevis)
    Hs.533336  [show with all ESTs]
    Unigene Representative Sequence: NM_012342
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000375533(uc001iuj.1) ENST00000497699
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate BAMBI (see all 32):
    hsa-miR-3678-3p hsa-miR-142-5p hsa-miR-520e hsa-miR-302d hsa-miR-106a hsa-miR-500a hsa-miR-3142 hsa-miR-372
    SwitchGear 3'UTR luciferase reporter plasmidBAMBI 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat BAMBI
    Clone
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      QuantiTect SYBR Green Assays in human, mouse, rat BAMBI
      QuantiFast Probe-based Assays in human, mouse, rat BAMBI

    Additional mRNA sequence: 

    AK223065.1 AK290639.1 BC019252.1 BT006820.1 U23070.1 

    9 DOTS entries:

    DT.315386  DT.95289042  DT.100777678  DT.100726383  DT.100777669  DT.100777677  DT.95289040  DT.95289044 
    DT.95289076 

    Selected AceView cDNA sequences (see all 235):

    BM761955 BM694208 CA454944 BQ426042 CR606572 BX335397 BU076733 H27050 
    BU733078 Z39158 CN482969 CA413611 AI634158 AW949368 BQ416921 CR592969 
    CR616386 BM691702 BF854210 CR617546 BM661838 BQ432366 CR592169 BM718610 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    BAMBI expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TACAGTGGGC
    BAMBI Expression
    About this image


    BAMBI expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 13) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 7 entries
             Membranous Facial Bones
             Chondrocyte-like cells
     
     Cartilage (Muscoskeletal System)    fully expand to see all 3 entries
             Meckel's Cartilage
             Chondrocyte-like cells
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Oligodendrocyte Precursor Cells Forebrain White Matter
             Midbrain dopaminergic-like neurons
     
     Epithelial Cells
             Fetal Matrix Cells Hair Follicle
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
    BAMBI Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BAMBI Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.533336

    UniProtKB/Swiss-Prot: BAMBI_HUMAN, Q13145
    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

        Pathway & Disease-focused RT2 Profiler PCR Array including BAMBI: 
              TGFB/BMP Signaling Pathway in human mouse rat

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat BAMBI
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BAMBI

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for BAMBI gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Bambi1 , 5 BMP and activin membrane-bound inhibitor, homolog (Xenopus more5
    BMP and activin membrane-bound inhibitor1
    88.33(n)1
    93.08(a)1
      18 (2.30 cM)5
    680101  NM_026505.21  NP_080781.11 
     35079575 
    chicken
    (Gallus gallus)
    Aves BAMBI1 BMP and activin membrane-bound inhibitor homolog (Xenopus more 85.97(n)
    93.44(a)
      428413  NM_001195401.1  NP_001182330.1 
    lizard
    (Anolis carolinensis)
    Reptilia BAMBI6
    BMP and activin membrane-bound inhibitor
    86(a)
    1 ↔ 1
    6(13786022-13790949)
    African clawed frog
    (Xenopus laevis)
    Amphibia AJ243576.12   -- 82.11(n)    AJ243576.1 
    zebrafish
    (Danio rerio)
    Actinopterygii bambi2 BMP and activin membrane-bound inhibitor (Xenopus laevis) more 77.03(n)   83496  BC059419.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for BAMBI gene
    1 SIMAP similar gene for BAMBI using alignment to 1 protein entry:     BAMBI_HUMAN:
    nma

    Find genes that share paralogs with BAMBI           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for BAMBI (see all 242)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1497378811,2
    --28964470(+) AGGCCA/GGGTTG 1 -- us2k10--------
    rs1456279491,2
    C--28964484(+) TAACAC/TACCCT 1 -- us2k10--------
    rs3771818741,2
    C--28964499(+) GTTTCC/GTTTAG 1 -- us2k10--------
    rs1488127761,2
    --28964502(+) TCCTTC/TTAGCT 1 -- us2k10--------
    rs1876228061,2
    --28964540(+) TCATTA/GCATAA 1 -- us2k10--------
    rs1920571241,2
    --28964708(+) GACAGA/GTGCCT 1 -- us2k10--------
    rs115963621,2
    H--28964811(+) ccagcC/Ttgggc 1 -- us2k10--------
    rs760007151,2
    C,F--28964838(+) TCTCAG/AAAAAA 1 -- us2k12Minor allele frequency- A:0.50WA CSA 4
    rs92996071,2
    C,F--28964861(+) aaaaa-/A/AA/ 
    AAA
    /AAAA
    GTCTT
    2 -- us2k1 cds1 trp32NA 4
    rs1452317501,2
    C--28964911(+) TCTAGG/TAGCCA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for BAMBI (28966271 - 28971868 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for BAMBI:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2734606CNV Deletion23290073
    nsv894990CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing BAMBI
    DNA2.0 Custom Variant and Variant Library Synthesis for BAMBI

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604444    OMIM disorders: --

    4 diseases for BAMBI:    
    About MalaCards
    cohen syndrome    gnathodiaphyseal dysplasia    megalencephalic leukoencephalopathy with subcortical cysts    pendred syndrome


    Find genes that share disorders with BAMBI           About GenesLikeMe

    8 Novoseek inferred disease relationships for BAMBI gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    wolfram syndrome 80.3 2 10679252 (1), 10739754 (1)
    optic atrophy 65.7 1 10679252 (1)
    batten disease 60.2 1 11590129 (1)
    neurodegenerative diseases 46.5 1 11590129 (1)
    diabetes mellitus 23.4 1 10679252 (1)
    metastasis 0 1 8621228 (1)
    tumors 0 4 8170938 (1), 15893603 (1), 18838381 (1)
    melanoma 0 9 8621228 (3), 8170938 (1)

    Genetic Association Database (GAD): BAMBI
    Human Genome Epidemiology (HuGE) Navigator: BAMBI (2 documents)

    Export disorders for BAMBI gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for BAMBI gene, integrated from 10 sources (see all 90):
    (articles sorted by number of sources associating them with BAMBI)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Expression of nma, a novel gene, inversely correlates with the metastatic potential of human melanoma cell lines and xenografts. (PubMed id 8621228)1, 2, 3, 9 Degen W.G.J.... Bloemers H.P.J. (Int. J. Cancer 1996)
    2. Human BAMBI cooperates with Smad7 to inhibit transforming growth factor-beta signaling. (PubMed id 19758997)1, 3, 9 Yan X....Chen Y.G. (J. Biol. Chem. 2009)
    3. Polymorphisms in the transforming growth factor beta 1 pathway in relation to colorectal cancer progression. (PubMed id 19998449)1, 4 FAPrsti A....Lenner P. (amp 2010)
    4. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1, 4 Jugessur A....Murray J.C. (PLoS ONE 2010)
    5. Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PubMed id 15340161)1, 2 Zhang Z. and Henzel W.J. (Protein Sci. 2004)
    6. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (Nature 2004)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. Transcriptional regulation of the TGF-beta pseudoreceptor BAMBI by TGF-beta signaling. (PubMed id 15240101)1, 9 Sekiya T....Akiyama T. (Biochem. Biophys. Res. Commun. 2004)
    9. The pseudoreceptor BMP and activin membrane-bound inhibitor positively modulates Wnt/beta-catenin signaling. (PubMed id 18838381)1, 9 Lin Z....Chen Y.G. (J. Biol. Chem. 2008)
    10. 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. (PubMed id 23551011)1 Zhao L....Dewan A.T. (Ann. Hum. Genet. 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 25805 HGNC: 30251 AceView: BAMBI Ensembl:ENSG00000095739 euGenes: HUgn25805
    ECgene: BAMBI Kegg: 25805 H-InvDB: BAMBI

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for BAMBI Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for BAMBI Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for BAMBI gene:
    Search GeneIP for patents involving BAMBI

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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