CARMIL2 - capping protein regulator and myosin 1 linker 2 Gene

Homo sapiens

Also known as IMD58; RLTPR; LRRC16C; CARMIL2b

Gene ID: 146206 | Gene type: protein coding

About CARMIL2

Cytogenetic location: 16q22.1 Genomic coordinates (GRCh38): 16:67,645,144-67,657,569 (from NCBI)

This gene has 16 transcripts (splice variants), 115 orthologues, 4 paralogues and is associated with 2 phenotypes. Biased expression in lymph node (RPKM 12.2), spleen (RPKM 8.2) and 10 other tissues.

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]

CARMIL2 Products(2)

mRNA	Protein	Name
NM_001013838.3	NP_001013860.1	capping protein, Arp2/3 and myosin-I linker protein 2 isoform 1
NM_001317026.3	NP_001303955.1	capping protein, Arp2/3 and myosin-I linker protein 2 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables phospholipid binding	IDA IDA: Inferred from direct assay	26578515	GOA
enables protein-containing complex binding	IDA IDA: Inferred from direct assay	26466680	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in actin filament network formation	IDA IDA: Inferred from direct assay	26466680	GOA
involved in establishment or maintenance of cell polarity	IDA IDA: Inferred from direct assay	19846667	GOA
involved in establishment or maintenance of monopolar cell polarity	IDA IDA: Inferred from direct assay	26466680	GOA
involved in negative regulation of barbed-end actin filament capping	IDA IDA: Inferred from direct assay	26466680	GOA
involved in positive regulation of cell migration	IDA IDA: Inferred from direct assay	19846667	GOA
involved in positive regulation of extracellular matrix disassembly	IDA IDA: Inferred from direct assay	26466680	GOA
involved in positive regulation of lamellipodium assembly	IDA IDA: Inferred from direct assay	26466680	GOA
involved in positive regulation of lamellipodium organization	IDA IDA: Inferred from direct assay	26578515	GOA
involved in positive regulation of ruffle assembly	IDA IDA: Inferred from direct assay	26466680	GOA
involved in wound healing, spreading of cells	IDA IDA: Inferred from direct assay	26466680	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in actin cytoskeleton	IDA IDA: Inferred from direct assay	26578515	GOA
located in cell leading edge	IDA IDA: Inferred from direct assay	26466680	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	19846667	GOA
located in intermediate filament cytoskeleton	IDA IDA: Inferred from direct assay	19846667	GOA
located in lamellipodium	IDA IDA: Inferred from direct assay	26578515	GOA
located in macropinosome	IDA IDA: Inferred from direct assay	26578515	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	26578515	GOA
located in ruffle	IDA IDA: Inferred from direct assay	26466680	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CARMIL2 Protein Structure

0
300
600
900
1200
1435 a.a.

Protein Preferred Names

Protein Names

capping protein, Arp2/3 and myosin-I linker protein 2

F-actin-uncapping protein RLTPR

Related Diseases

Diseases

Alias

Immunodeficiency 58

IMD58	Severe Combined Immunodeficiency Due To Carmil2 Deficiency
Combined Immunodeficiency Due To Carmil2 Deficiency	Combined Immunodeficiency Due To Rltpr Deficiency

Combined T And B Cell Immunodeficiency

Combined Immunodeficiency

Combined T Cell And B Cell Immunodeficiency	Congenital Combined Immunodeficiency
Syndrome With Combined Immunodeficiency	Combined T And B Cell Immunodeficiency
Combined Immunity Deficiency	Combined Immunodeficiency Syndrome
Combined T-Cell And B-Cell Immunodeficiency	Lymphopenic Agammaglobulinaemia

Dermatitis

Eczema	Skin Inflammation
Inflammatory Dermatosis

Leiomyomatosis

Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia

Platelet Abnormalities With Eosinophilia And Immune-Mediated Inflammatory Disease	IMD71
Plteid	Immunodeficiency 71

Immunodeficiency 16

Combined Immunodeficiency Due To Ox40 Deficiency	IMD16
Ox40 Deficiency	Combined Immunodeficiency With Childhood-Onset Kaposi Sarcoma
Combined Immunodeficiency With Impaired Immunity To Hhv-8	Combined Immunodeficiency With Impaired Immunity To Human Herpes Virus 8
Immunodeficiency, Type 16

Cone-Rod Dystrophy 15

Retinitis Pigmentosa 65	CORD15
Dystrophy, Cone-Rod, Type 15

Infantile Myofibromatosis

Lipofibromatosis

Myofibromatosis

Photoparoxysmal Response 1

Photosensitivity Disease	Photodermatitis
Photosensitivity Disorders	PPR1
Ppr	Photosensitivity
Photoconvulsive Reaction	Epilepsy, Photogenic
Photosensitivity Of Skin	Dermatitis, Phototoxic

Immunodeficiency 11

Immunodeficiency 11a	Severe Combined Immunodeficiency Due To Card11 Deficiency
IMD11A	Imd11
Card11 Immunodeficiency	Scid Due To Card11 Deficiency
Card11 Deficiency	Immunodeficiency 11 A

Immunodeficiency 40

Dock2 Deficiency	IMD40
Immunodeficiency, Type 40

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect Pre-designed Sets	Purity	Rare Diseases Unkown
HY-RS01930	CARMIL2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	CARMIL2	VGNC	VGNC:70647
Bos taurus	CARMIL2	VGNC	VGNC:26769
Canis familiaris	CARMIL2	VGNC	VGNC:38723
Rattus norvegicus	CARMIL2	RGD	RGD:1562390
Mus musculus	CARMIL2	MGD	MGI:2685431
Felis catus	CARMIL2	VGNC	VGNC:60371

Name
Email *

	Sorry, but the email address you supplied was invalid.