Gene

tgfbr2a

ID

ZDB-GENE-120404-1

Name

transforming growth factor beta receptor 2a

Symbol

tgfbr2a Nomenclature History

Previous Names

tgfbr2l

Type

protein_coding_gene

Location

Chr: 19 Mapping Details/Browsers

Description

Predicted to enable several functions, including activin binding activity; transforming growth factor beta binding activity; and transmembrane receptor protein serine/threonine kinase activity. Predicted to be involved in several processes, including activin receptor signaling pathway; cellular response to growth factor stimulus; and heart development. Predicted to act upstream of or within apoptotic process; cell surface receptor protein serine/threonine kinase signaling pathway; and protein phosphorylation. Predicted to be located in membrane raft. Predicted to be part of activin receptor complex. Predicted to be active in plasma membrane. Is expressed in bulbus arteriosus and pharyngeal arch. Human ortholog(s) of this gene implicated in several diseases, including Loeys-Dietz syndrome 2; Lynch syndrome (multiple); Marfan syndrome; gastrointestinal system cancer (multiple); and mismatch repair cancer syndrome. Orthologous to human TGFBR2 (transforming growth factor beta receptor 2).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

4 figures from 4 publications

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: No data available
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With tgfbr2a Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
esophageal cancer	Alliance	Esophageal cancer, somatic	133239
hereditary nonpolyposis colorectal cancer type 6	Alliance	Colorectal cancer, hereditary nonpolyposis, type 6	614331
Loeys-Dietz syndrome 2	Alliance	Loeys-Dietz syndrome 2	610168

Associated With tgfbr2a Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Active_site	IPR008271	Serine/threonine-protein kinase, active site
Binding_site	IPR017441	Protein kinase, ATP binding site
Domain	IPR000719	Protein kinase domain
Domain	IPR001245	Serine-threonine/tyrosine-protein kinase, catalytic domain
Domain	IPR015013	Transforming growth factor beta receptor 2 ectodomain
Family	IPR000333	Ser/Thr protein kinase, TGFB receptor
Homologous_superfamily	IPR011009	Protein kinase-like domain superfamily
Homologous_superfamily	IPR045860	Snake toxin-like superfamily

Domain Details Per Protein

Protein	Length	Protein kinase, ATP binding site	Protein kinase domain	Protein kinase-like domain superfamily	Serine/threonine-protein kinase, active site	Serine-threonine/tyrosine-protein kinase, catalytic domain	Ser/Thr protein kinase, TGFB receptor	Snake toxin-like superfamily	Transforming growth factor beta receptor 2 ectodomain
UniProtKB:E7F998 InterPro	659
UniProtKB:A0A8M3AS98 InterPro	659

Transcripts

Genome Browsers

NCBI

Type	Name	Annotation Method	Has Havana Data	Length (nt)	Analysis
mRNA	tgfbr2-201 (1) Ensembl	Ensembl		1,938 nt	Select Tool ZFIN BLAST

Interactions and Pathways

No data available

Antibodies

No data available

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance

Citations