CARMIL2


Summary: This gene encodes a member of the CARMIL (capping protein, Arp2/3, myosin-I linker) family of proteins. The encoded protein interacts with and negatively regulates the heterodimeric capping protein and promotes cell migration. Reduced expression of this gene has been observed in human psoriasis patients. Mutations in this gene cause a human immunodeficiency syndrome characterized by smooth muscle tumors and impaired T-cell function. [provided by RefSeq, May 2017].

NameOMIM IDEnsembl IDHGNC IDPHARMGKB IDMap Location
capping protein regulator and myosin 1 linker 2MIM:610859Ensembl:ENSG00000159753HGNC:HGNC:27089PA16240137116q22.1

GO terms in CARMIL2


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

Gene expression in normal tissue: CARMIL2

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in CARMIL2


DatabasePathway IDPathway Des.

Gene-Drug: Aster Plot


Drug IDDrug NameModel Num.
iGMDRD353PD03259012
iGMDRD30917AAG2

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in CARMIL2

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