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 regulation of Arp2/3 complex-mediated actin nucleation. Predicted to be located in cytoplasm. Predicted to be active in lamellipodium and plasma membrane. Is expressed in central nervous system; eye; and pronephric duct. Human ortholog(s) of this gene implicated in immunodeficiency 58. 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
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
Allele Type Localization Consequence Mutagen Supplier
ct78bGtTransgenic insertionUnknownUnknownDNA
la027930TgTransgenic insertionUnknownUnknownDNA
sa6517Allele with one point mutationUnknownPremature StopENU
sa6518Allele with one point mutationUnknownSplice SiteENU
sa12493Allele with one point mutationUnknownPremature StopENU
sa13235Allele with one point mutationUnknownSplice SiteENU
sa15203Allele with one point mutationUnknownPremature StopENU
sa23302Allele with one point mutationUnknownSplice SiteENU
sa23303Allele with one point mutationUnknownSplice SiteENU
sa23304Allele with one point mutationUnknownPremature StopENU
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Sequence Targeting Reagents
No data available
Human Disease
Associated With carmil2 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
immunodeficiency 58 Alliance Immunodeficiency 58 618131
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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
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Domain Details Per Protein
Protein Additional Resources Length CARMIL, C-terminal domain CARMIL, pleckstrin homology domain Leucine-rich repeat Leucine-rich repeat domain superfamily PH-like domain superfamily Protein Phosphatase 1 Regulatory and Actin Interaction Protein
UniProtKB:F6NI44 InterPro 1665
UniProtKB:A0A8M9PQB9 InterPro 1006
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Transcripts
Genome Browsers
Genome Build: GRCz11Chromosome: 18
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA carmil2-201 (1) Ensembl 5,241 nt
1 - 1 of 1
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
No data available
Marker Relationships
Relationship Marker Type Marker Accession Numbers Citations
Contained inBACDKEY-6E12ZFIN Curated Data
EncodesESTfk64c08
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Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Species Symbol Chromosome Accession # Evidence
HumanCARMIL216
Amino acid sequence comparison (2)
Conserved genome location (synteny) (1)
MouseCarmil28
Amino acid sequence comparison (1)
Citations
1 - 5 of 5
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