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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| capping protein regulator and myosin 1 linker 2 | MIM:610859 | Ensembl:ENSG00000159753 | HGNC:HGNC:27089 | PA162401371 | 16q22.1 |
GO terms in CARMIL2
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | IDA | GO:0001726 | ruffle |
| CC | IDA | GO:0005737 | cytoplasm |
| CC | IDA | GO:0005886 | plasma membrane |
| CC | IDA | GO:0015629 | actin cytoskeleton |
| CC | HDA | GO:0016020 | membrane |
| CC | IDA | GO:0030027 | lamellipodium |
| CC | NAS | GO:0031234 | extrinsic component of cytoplasmic side of plasma membrane |
| CC | IDA | GO:0031252 | cell leading edge |
| CC | IDA | GO:0044354 | macropinosome |
| CC | IDA | GO:0045111 | intermediate filament cytoskeleton |
| BP | IDA | GO:0007163 | establishment or maintenance of cell polarity |
| BP | IDA | GO:0010592 | positive regulation of lamellipodium assembly |
| BP | IEA | GO:0030011 | maintenance of cell polarity |
| BP | IDA | GO:0030335 | positive regulation of cell migration |
| BP | IDA | GO:0044319 | wound healing, spreading of cells |
| BP | IDA | GO:0051639 | actin filament network formation |
| BP | IDA | GO:0061339 | establishment or maintenance of monopolar cell polarity |
| BP | IDA | GO:0090091 | positive regulation of extracellular matrix disassembly |
| BP | IDA | GO:1900029 | positive regulation of ruffle assembly |
| BP | IDA | GO:1902745 | positive regulation of lamellipodium organization |
| BP | IDA | GO:2000813 | negative regulation of barbed-end actin filament capping |
| MF | IDA | GO:0005543 | phospholipid binding |
| MF | IDA | GO:0044877 | protein-containing complex binding |
Gene expression in normal tissue: CARMIL2
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in CARMIL2
| Database | Pathway ID | Pathway Des. |
|---|
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in CARMIL2
CLASSFICATION
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