Gene

kirrel1b

ID

ZDB-GENE-070912-173

Name

kirre like nephrin family adhesion molecule 1b

Symbol

kirrel1b Nomenclature History

Previous Names

kirrelb
Neph1b (1)
si:ch211-195h23.2

Type

protein_coding_gene

Location

Chr: 2 Mapping Details/Browsers

Description

Predicted to enable cell adhesion molecule binding activity. Acts upstream of or within glomerular basement membrane development; podocyte development; and pronephric duct development. Predicted to be located in membrane. Predicted to be active in cell-cell junction and plasma membrane. Is expressed in brain and pronephric glomerulus. Human ortholog(s) of this gene implicated in nephrotic syndrome type 23. Orthologous to human KIRREL1 (kirre like nephrin family adhesion molecule 1).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

1 figure from Neumann-Haefelin et al., 2010

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: 3 figures from 2 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With kirrel1b Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
nephrotic syndrome type 23	Alliance	Nephrotic syndrome, type 23	619201

Associated With kirrel1b Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR003598	Immunoglobulin subtype 2
Domain	IPR003599	Immunoglobulin domain subtype
Domain	IPR007110	Immunoglobulin-like domain
Domain	IPR013098	Immunoglobulin I-set
Domain	IPR013162	CD80-like, immunoglobulin C2-set
Family	IPR051275	Cellular adhesion and signaling domain-containing protein
Homologous_superfamily	IPR013783	Immunoglobulin-like fold
Homologous_superfamily	IPR036179	Immunoglobulin-like domain superfamily

Domain Details Per Protein

Protein	Length	CD80-like, immunoglobulin C2-set	Cellular adhesion and signaling domain-containing protein	Immunoglobulin domain subtype	Immunoglobulin I-set	Immunoglobulin-like domain	Immunoglobulin-like domain superfamily	Immunoglobulin-like fold	Immunoglobulin subtype 2
UniProtKB:A0A8M3AQ03 InterPro	796
UniProtKB:A0A8M2BIN8 InterPro	784
UniProtKB:B3DHL7 InterPro	790
UniProtKB:A0A8M9QF61 InterPro	795
UniProtKB:A0A8M6Z878 InterPro	801
UniProtKB:A0A8M6Z0N3 InterPro	789
UniProtKB:A0A8M3B7X0 InterPro	783