Gene

bmp2b

ID

ZDB-GENE-980526-474

Name

bone morphogenetic protein 2b

Symbol

bmp2b Nomenclature History

Previous Names

bmp2-4
zbmp-2
zbmp2
cb670 (1)
etID309839.20 (1)
swirl
swr

Type

protein_coding_gene

Location

Chr: 20 Mapping Details/Browsers

Description

Enables identical protein binding activity and protein heterodimerization activity. Involved in dorsal/ventral axis specification. Acts upstream of or within several processes, including embryonic morphogenesis; nervous system development; and regionalization. Predicted to be located in extracellular region. Predicted to be active in extracellular space. Is expressed in several structures, including cardiovascular system; digestive system; ectoderm; fin; and mesoderm. Human ortholog(s) of this gene implicated in several diseases, including bone disease (multiple); hemochromatosis type 1; otosclerosis; short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1; and tooth agenesis. Orthologous to human BMP2 (bone morphogenetic protein 2).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

174 figures from 132 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

cb670 (47 images)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 43 figures from 26 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With bmp2b Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
brachydactyly type A2	Alliance	Brachydactyly, type A2	112600
hemochromatosis type 1	Alliance	{HFE hemochromatosis, modifier of}	235200
short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1	Alliance	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1	617877

Associated With bmp2b Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Conserved_site	IPR017948	Transforming growth factor beta, conserved site
Domain	IPR001111	TGF-beta, propeptide
Domain	IPR001839	Transforming growth factor-beta, C-terminal
Family	IPR015615	Transforming growth factor-beta-related
Homologous_superfamily	IPR029034	Cystine-knot cytokine