Gene

insra

ID

ZDB-GENE-020503-3

Name

insulin receptor a

Symbol

insra Nomenclature History

Previous Names

IRa (1)

Type

protein_coding_gene

Location

Chr: 2 Mapping Details/Browsers

Description

Predicted to enable insulin receptor activity and insulin receptor substrate binding activity. Acts upstream of or within with a positive effect on glycolytic process. Acts upstream of or within with a negative effect on gluconeogenesis. Acts upstream of or within chordate embryonic development and developmental growth. Predicted to be located in membrane. Predicted to be part of insulin receptor complex. Predicted to be active in axon and plasma membrane. Is expressed in several structures, including fertilized egg; immature eye; liver; male organism; and pleuroperitoneal region. Human ortholog(s) of this gene implicated in Donohue syndrome; diabetes mellitus (multiple); familial hyperinsulinemic hypoglycemia 5; hepatocellular carcinoma; and reproductive organ cancer (multiple). Orthologous to human INSR (insulin receptor).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

21 figures from 17 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

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: 21 figures from 7 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With insra Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
Donohue syndrome	Alliance	Donohue syndrome	246200
familial hyperinsulinemic hypoglycemia 5	Alliance	Hyperinsulinemic hypoglycemia, familial, 5	609968
		Diabetes mellitus, insulin-resistant, with acanthosis nigricans	610549
		Rabson-Mendenhall syndrome	262190

Associated With insra Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Active_site	IPR008266	Tyrosine-protein kinase, active site
Binding_site	IPR017441	Protein kinase, ATP binding site
Conserved_site	IPR002011	Tyrosine-protein kinase, receptor class II, conserved site
Domain	IPR000494	Receptor L-domain
Domain	IPR000719	Protein kinase domain
Domain	IPR001245	Serine-threonine/tyrosine-protein kinase, catalytic domain
Domain	IPR003961	Fibronectin type III
Domain	IPR006211	Furin-like cysteine-rich domain
Domain	IPR020635	Tyrosine-protein kinase, catalytic domain
Domain	IPR040969	Insulin receptor, trans-membrane domain
Family	IPR016246	Tyrosine-protein kinase, insulin-like receptor
Family	IPR050122	Receptor Tyrosine Kinase
Homologous_superfamily	IPR009030	Growth factor receptor cysteine-rich domain superfamily
Homologous_superfamily	IPR011009	Protein kinase-like domain superfamily
Homologous_superfamily	IPR013783	Immunoglobulin-like fold
Homologous_superfamily	IPR036116	Fibronectin type III superfamily
Homologous_superfamily	IPR036941	Receptor L-domain superfamily
Repeat	IPR006212	Furin-like repeat