Gene

carmil2

ID

ZDB-GENE-050419-197

Name

capping protein regulator and myosin 1 linker 2

Symbol

carmil2 Nomenclature History

Previous Names

Carmil2 (1)
rltpr (2)
si:dkey-6e12.3
si:dkey-6e12.4
wu:fk64c08

Type

protein_coding_gene

Location

Chr: 18 Mapping Details/Browsers

Description

Predicted to be involved in cell migration and maintenance of cell polarity. Human ortholog(s) of this gene implicated in primary immunodeficiency disease. Is expressed in central nervous system; eye; and pronephric duct. Orthologous to human CARMIL2 (capping protein regulator and myosin 1 linker 2).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

3 figures from Stark et al., 2015

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: No data available
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With carmil2 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
immunodeficiency 58	Alliance	Immunodeficiency 58	618131

Associated With carmil2 Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR031943	CARMIL, C-terminal domain
Domain	IPR041245	CARMIL, pleckstrin homology domain
Family	IPR051279	Protein Phosphatase 1 Regulatory and Actin Interaction Protein
Homologous_superfamily	IPR011993	PH-like domain superfamily
Homologous_superfamily	IPR032675	Leucine-rich repeat domain superfamily
Repeat	IPR001611	Leucine-rich repeat