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

Genome Assembly

GRCz12tu

Annotation Status

Current

Description

Predicted to enable ATP binding activity; metal ion binding activity; and transforming growth factor beta receptor activity, type II. Predicted to be involved in cell surface receptor protein serine/threonine kinase signaling pathway. Predicted to be located in membrane raft and 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

No data available

Domain Details Per Protein

Protein	Additional Resources	Length
UniProtKB:E7F998	InterPro	659
UniProtKB:A0A8M3AS98	InterPro	659
UniProtKB:A0AC58HZN0	InterPro	659
UniProtKB:A0AC58HZN8	InterPro	659
UniProtKB:A0AC58HZP7	InterPro	659