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BAMBI BMP and activin membrane bound inhibitor [ Homo sapiens (human) ]

Gene ID: 25805, updated on 22-Aug-2020

Summary

Official Symbol
BAMBIprovided by HGNC
Official Full Name
BMP and activin membrane bound inhibitorprovided by HGNC
Primary source
HGNC:HGNC:30251
See related
Ensembl:ENSG00000095739 MIM:604444
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NMA
Summary
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]
Expression
Broad expression in ovary (RPKM 40.8), adrenal (RPKM 26.5) and 15 other tissues See more
Orthologs

Genomic context

See BAMBI in Genome Data Viewer
Location:
10p12.1
Exon count:
3
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (28677521..28682932)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (28966424..28971868)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene TP53RK binding protein pseudogene 1 Neighboring gene RNA, U6 small nuclear 1067, pseudogene Neighboring gene uncharacterized LOC105376470 Neighboring gene uncharacterized LOC107984170

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
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.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
frizzled binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
frizzled binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
type II transforming growth factor beta receptor binding TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
BMP and activin membrane-bound inhibitor homolog
Names
non-metastatic gene A protein
putative transmembrane protein NMA

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_012342.3NP_036474.1  BMP and activin membrane-bound inhibitor homolog precursor

    See identical proteins and their annotated locations for NP_036474.1

    Status: REVIEWED

    Source sequence(s)
    AI680996, BQ640107, U23070
    Consensus CDS
    CCDS7162.1
    UniProtKB/Swiss-Prot
    Q13145
    Related
    ENSP00000364683.3, ENST00000375533.6
    Conserved Domains (1) summary
    pfam06211
    Location:4111
    BAMBI; BMP and activin membrane-bound inhibitor (BAMBI) N-terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    28677521..28682932
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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