Human Gene BAMBI (ENST00000375533.6_4) from GENCODE V47lift37
  Description: BMP and activin membrane bound inhibitor (from RefSeq NM_012342.3)
Gencode Transcript: ENST00000375533.6_4
Gencode Gene: ENSG00000095739.11_7
Transcript (Including UTRs)
   Position: hg19 chr10:28,966,450-28,971,861 Size: 5,412 Total Exon Count: 3 Strand: +
Coding Region
   Position: hg19 chr10:28,966,827-28,971,330 Size: 4,504 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:28,966,450-28,971,861)mRNA (may differ from genome)Protein (260 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: BAMBI_HUMAN
DESCRIPTION: RecName: Full=BMP and activin membrane-bound inhibitor homolog; AltName: Full=Non-metastatic gene A protein; AltName: Full=Putative transmembrane protein NMA; Flags: Precursor;
FUNCTION: Negatively regulates TGF-beta signaling.
SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein (Potential).
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.
DEVELOPMENTAL STAGE: Expression in poorly metastatic human melanoma cell lines; no expression in highly metastatic human melanoma cell lines.
SIMILARITY: Belongs to the BAMBI family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: BAMBI
Diseases sorted by gene-association score: wolfram syndrome (16), cohen syndrome (8), gnathodiaphyseal dysplasia (7), optic atrophy plus syndrome (7), meningococcal meningitis (6), megalencephalic leukoencephalopathy with subcortical cysts (6), ceroid lipofuscinosis, neuronal, 3 (6), melanoma (3), diamond-blackfan anemia (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 50.40 RPKM in Ovary
Total median expression: 378.74 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -215.50377-0.572 Picture PostScript Text
3' UTR -100.90531-0.190 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR009345 - BMP/activin_membr-bound_inhib

Pfam Domains:
PF06211 - BMP and activin membrane-bound inhibitor (BAMBI) N-terminal domain
PF19337 - BMP and activin membrane-bound inhibitor homolog C-terminus

SCOP Domains:
57302 - Snake toxin-like

ModBase Predicted Comparative 3D Structure on Q13145
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005109 frizzled binding
GO:0005114 type II transforming growth factor beta receptor binding

Biological Process:
GO:0008284 positive regulation of cell proliferation
GO:0008360 regulation of cell shape
GO:0010718 positive regulation of epithelial to mesenchymal transition
GO:0016477 cell migration
GO:0030512 negative regulation of transforming growth factor beta receptor signaling pathway
GO:0032092 positive regulation of protein binding
GO:0045893 positive regulation of transcription, DNA-templated
GO:0090263 positive regulation of canonical Wnt signaling pathway

Cellular Component:
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  AK290639 - Homo sapiens cDNA FLJ75658 complete cds, highly similar to Homo sapiens BMP and activin membrane-bound inhibitor homolog(Xenopus laevis) (BAMBI), mRNA.
BC019252 - Homo sapiens BMP and activin membrane-bound inhibitor homolog (Xenopus laevis), mRNA (cDNA clone MGC:1111 IMAGE:3503549), complete cds.
AK223065 - Homo sapiens mRNA for BMP and activin membrane-bound inhibitor variant, clone: KAT00534.
U23070 - Human putative transmembrane protein (nma) mRNA, complete cds.
KJ893463 - Synthetic construct Homo sapiens clone ccsbBroadEn_02857 BAMBI gene, encodes complete protein.
AB463445 - Synthetic construct DNA, clone: pF1KB8160, Homo sapiens BAMBI gene for BMP and activin membrane-bound inhibitor homolog, without stop codon, in Flexi system.
BT006820 - Homo sapiens putative transmembrane protein mRNA, complete cds.
JD056004 - Sequence 37028 from Patent EP1572962.
JD197271 - Sequence 178295 from Patent EP1572962.
JD507594 - Sequence 488618 from Patent EP1572962.
MP015357 - Sequence 560 from Patent WO2019016252.
JD291910 - Sequence 272934 from Patent EP1572962.
JD260579 - Sequence 241603 from Patent EP1572962.
JD233922 - Sequence 214946 from Patent EP1572962.
JD111300 - Sequence 92324 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q13145 (Reactome details) participates in the following event(s):

R-HSA-173483 BAMBI interferes with the interaction of type I receptor with type II receptor
R-HSA-2173788 Downregulation of TGF-beta receptor signaling
R-HSA-2173789 TGF-beta receptor signaling activates SMADs
R-HSA-170834 Signaling by TGF-beta Receptor Complex
R-HSA-9006936 Signaling by TGF-beta family members
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: BAMBI_HUMAN, ENST00000375533.1, ENST00000375533.2, ENST00000375533.3, ENST00000375533.4, ENST00000375533.5, NMA, NM_012342, Q13145, uc318mif.1, uc318mif.2
UCSC ID: ENST00000375533.6_4
RefSeq Accession: NM_012342.3
Protein: Q13145 (aka BAMBI_HUMAN or BAMB_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.