Entity Details

Primary name CARMIL2
Entity type gene
Source Source Link

Details

PrimaryID146206
RefseqGeneNG_054728
SymbolCARMIL2
Namecapping protein regulator and myosin 1 linker 2
Chromosome16
Location16q22.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2002-01-21
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsCARL2_HUMAN

GO terms

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GOName
GO:0001726 ruffle
GO:0005543 phospholipid binding
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0007163 establishment or maintenance of cell polarity
GO:0010592 positive regulation of lamellipodium assembly
GO:0015629 actin cytoskeleton
GO:0016020 membrane
GO:0030011 maintenance of cell polarity
GO:0030027 lamellipodium
GO:0030335 positive regulation of cell migration
GO:0031234 extrinsic component of cytoplasmic side of plasma membrane
GO:0031252 cell leading edge
GO:0044319 wound healing, spreading of cells
GO:0044354 macropinosome
GO:0044877 protein-containing complex binding
GO:0045111 intermediate filament cytoskeleton
GO:0051639 actin filament network formation
GO:0061339 establishment or maintenance of monopolar cell polarity
GO:0090091 positive regulation of extracellular matrix disassembly
GO:1900029 positive regulation of ruffle assembly
GO:1902745 positive regulation of lamellipodium organization
GO:2000813 negative regulation of barbed-end actin filament capping

Diseases

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Disease IDSourceNameDescription
618131 OMIMImmunodeficiency 58 (IMD58)An autosomal recessive primary immunodeficiency characterized by a variety of infectious diseases, including mycobacterial diseases, mucocutaneous candidiasis, silent but detectable EBV viremia, and staphylococcal diseases. Patients suffer from dermatitis, esophagitis, recurrent skin abscesses and chest infections. Immunologic analysis shows defective T-cell function and deficient CD3/CD28 stimulation responses in both CD4+ and CD8+ T cells. B-cell function may also be impaired. The disease is caused by variants affecting the gene represented in this entry.

Interactions

9 interactions