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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

BAMBI Gene

protein-coding   GIFtS: 60
GCID: GC10P029006

BMP and activin membrane-bound inhibitor homolog (Xenopus...
 Explore 42 diseases affiliated with
BAMBI via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for BAMBI    

Aliases
for BAMBI gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
BMP And Activin Membrane-Bound Inhibitor Homolog (Xenopus Laevis)1 2
NMA1 2 3 5
Non-Metastatic Gene A Protein2 3
Putative Transmembrane Protein NMA2 3
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 GC10P028685


Summaries
for BAMBI gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for BAMBI:
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)

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

Gene Wiki entry for BAMBI


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NC_018921.1  NT_008705.16  
Regulatory elements:
   SABiosciences 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 plasmid: BAMBI promoter sequence
   Search SABiosciences Chromatin IP Primers for BAMBI

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 GC10P029006:  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

Proteins
for BAMBI gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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
Subcellular location: Membrane; Single-pass type I membrane protein (Potential)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q13145

    • BAMBI Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_036474.1  
    ENSEMBL proteins: 
     ENSP00000364683  
    Reactome Protein details: Q13145
    Human Recombinant Protein Products: 
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    OriGene Protein Over-expression Lysate: BAMBI
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    Novus Biologicals BAMBI Protein
    Novus Biologicals BAMBI Lysate
    Sino Biological Recombinant Protein for BAMBI
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for BAMBI

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA18756595
    GO:0005886plasma membrane IDA18756595
    GO:0016020membrane ----
    GO:0016021integral to membrane IEA--


    BAMBI for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for BAMBI

    Protein Domains /
    Families
    for BAMBI gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    BAMBI for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR009345 BMP/activin_membr-bound_inhib

    Graphical View of Domain Structure for InterPro Entry Q13145

    ProtoNet protein and cluster: Q13145

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

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


    Function
    for BAMBI gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

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

    miRNA
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    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat BAMBI
    8/32 QIAGEN miScript miRNA 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 plasmid: BAMBI 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for BAMBI (see all 7)
    OriGene shRNA RFP: BAMBI
    OriGene siRNA: BAMBI
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat BAMBI

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for BAMBI

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for BAMBI (see all 3)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BAMBI 

    Cell Line
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    Search LifeMap BioReagents cell lines for BAMBI

    In Situ Assay
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         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BAMBI

    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005109frizzled binding IPI18838381
    GO:0005114type II transforming growth factor beta receptor binding TAS18756595


    BAMBI for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-outs for BAMBI: Bambitm1Mahu Bambitm1.1Jian
         7 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Bambi):
     behavior/neurological  craniofacial  growth/size  integument  limbs/digits/tail 
     normal  skeleton 

    BAMBI for phenotypes           About GeneDecksing


    Pathways & Interactions
    for BAMBI gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/7 super-pathways (see all 7) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Signal transduction Activin A signaling regulation
    		Signal transduction Activin A signaling regulation1.00
    		Signal transduction_Activin A signaling regulation0.96
    2TGF-beta receptor signaling activates SMADs
    		TGF-beta receptor signaling activates SMADs1.00
    		Downregulation of TGF-beta receptor signaling0.90
    3TGF Beta Signaling Pathway
    		TGF Beta Signaling Pathway1.00
    4TGF-beta receptor signaling
    		TGF-beta receptor signaling1.00
    5Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer
    		Signaling by TGF-beta Receptor Complex0.61

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for BAMBI
        Signal transduction Activin A signaling regulation


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

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

    4        Reactome Pathways for BAMBI
        Signaling by TGF-beta Receptor Complex
    TGF-beta receptor signaling activates SMADs
    Signal Transduction
    Downregulation of TGF-beta receptor signaling



    BAMBI for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for BAMBI

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

    5/23 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): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007179transforming growth factor beta receptor signaling pathway IEA--
    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


    BAMBI for ontologies           About GeneDecksing



    Drugs & Compounds
    for BAMBI gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    BAMBI for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for BAMBI
    2 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about BAMBI 

    Transcripts
    for BAMBI gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat BAMBI
    8/32 QIAGEN miScript miRNA 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 plasmid: BAMBI 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for BAMBI (see all 7)
    OriGene shRNA RFP: BAMBI
    OriGene siRNA: BAMBI
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat BAMBI
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for BAMBI (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for BAMBI (see all 2)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: BAMBI (NM_012342)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BAMBI 
    Primer
    Products:            		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for BAMBI
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat BAMBI
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat BAMBI
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BAMBI

    Additional cDNA 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 

    24/235 AceView cDNA sequences (see all 235):

    BC019252 CA413611 AA460043 CR598415 CR617546 AW949368 BI766347 BQ426042 
    BI495550 BF854210 BM694208 BQ434899 CR592969 BU172405 Z39158 BU076733 
    BX335397 BQ416921 CR616386 CR592169 CD676688 BM691702 BQ640107 AI634158 

    GeneLoc Exon Structure


    Expression
    for BAMBI gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    BAMBI expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TACAGTGGGC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    BAMBI expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    6 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BoneEndochondral Facial BonesBone
    BoneStylopod Long BoneBone
    BoneThoracic RibBone
    CartilageMeckel's CartilageCartilage
    LimbAutopodLimb
    LimbLimb BudLimb
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 7 LifeMap Cells 
    NameCategory
    PureStem™ progenitor T42 (Embryonic Progenitor Cell)
    PureStem™ progenitor E69 (Embryonic Progenitor Cell)
    PureStem™ progenitor T36 (Embryonic Progenitor Cell)
    Trophoblast-like cells (Generation of tropho...)
    Primitive gut tube-like cells (A scalable, suspensi...)
    Cartilage-like cells (Differentiation of s...)Cartilage
    HyStem+BMP4-induced MEL2 cells (HyStem+BMP4 inductio...)Bone

    See BAMBI Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BAMBI

    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

        SABiosciences Expression via Pathway-Focused PCR Array including BAMBI: 
              TGFB/BMP Signaling Pathway in human mouse rat

    Primer
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BAMBI

    Orthologs
    for BAMBI gene

    (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)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for BAMBI gene from 6/15 species (see all 15)    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 more1, 5 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
    		 --
    		 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 
    honey bee
    (Apis mellifera)    		 Insecta --
    		 --
    		 18(a)
    		 1 ↔ 1
    		 Group13.4(34178-69053)


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

    Paralogs
    for BAMBI gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    		  --

    Genomic Variants
    for BAMBI gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/184 NCBI SNPs in BAMBI are shown (see all 184)     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
    		--28964484(+) TAACAC/TACCCT 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
    rs1452317501,2
    		--28964911(+) TCTAGG/TAGCCA 1 -- us2k10--------
    rs1143538171,2
    		F,--28965014(+) AACCAG/CTTTAA 1 -- us2k11Minor allele frequency- C:0.05WA 118
    rs1843281821,2
    		--28965241(+) CTTTCA/GGTCCT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for BAMBI (28966271 - 28971868 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for BAMBI: --

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    Disorders / Diseases
    for BAMBI gene

    (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.)
    About This Section
    BAMBI for disorders           About GeneDecksing

    OMIM gene information: 604444    OMIM disorders: --

    20/42 diseases for BAMBI (see all 42):    About MalaCards
    megalencephalic leukoencephalopathy with subcortical cysts    neuronal ceroid-lipofuscinoses    ceroid lipofuscinosis    neuronal ceroid-lipofuscinosis
    temporal lobe epilepsy    gnathodiaphyseal dysplasia    optic atrophy    wolfram syndrome
    batten disease    cohen syndrome    spastic paraplegia    haemophilus influenzae
    friedreich ataxia    pendred syndrome    polycystic kidney disease    diabetes mellitus
    paraplegia    macular degeneration    neurodegenerative disease    macular dystrophy

    8 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: BAMBI (2 documents)

    Export disorders for BAMBI gene to outside databases

    Publications
    for BAMBI gene

    (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)
    About This Section

    PubMed articles for BAMBI gene, integrated from 9 sources (see all 88):
    (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. (1996)
    2. Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PubMed id 15340161)1, 2 Zhang Z. and Henzel W.J. (2004)
    3. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (2004)
    4. 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. (2004)
    5. Transcriptional regulation of the TGF-beta pseudoreceptor BAMBI by TGF-beta signaling. (PubMed id 15240101)1, 9 Sekiya T....Akiyama T. (2004)
    6. The pseudoreceptor BMP and activin membrane-bound inhibitor positively modulates Wnt/beta-catenin signaling. (PubMed id 18838381)1, 9 Lin Z....Chen Y.G. (2008)
    7. Human BAMBI cooperates with Smad7 to inhibit transfor ming growth factor-beta signaling. (PubMed id 19758997)1, 9 Yan X....Chen Y.G. (2009)
    8. Identification of BMP and activin membrane-bound inhi bitor (BAMBI) as a potent negative regulator of adipogenesis and modulator of a utocrine/paracrine adipogenic factors. (PubMed id 22187378)1 Luo X....Whitehead J.P. (2012)
    9. Metformin-mediated Bambi expression in hepatic stellat e cells induces prosurvival Wnt/b-catenin signaling. (PubMed id 22406377)1 Subramaniam N....Downes M. (2012)
    10. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)

    External Searches for BAMBI gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing BAMBI gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 25805 HGNC: 30251 AceView: BAMBI Ensembl:ENSG00000095739 euGenes: HUgn25805
    ECgene: BAMBI H-InvDB: BAMBI

    Other Databases showing BAMBI gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing BAMBI gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for BAMBI Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for BAMBI Genetics and Cytogenetics in Oncology and Haematology

    Intellectual Property
    for BAMBI gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for BAMBI gene:
    Search GeneIP for patents involving BAMBI

    GeneCards and IP:
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