CARMIL2 - capping protein regulator and myosin 1 linker 2 Gene

Also Known as IMD58; RLTPR; LRRC16C; CARMIL2b

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 146206

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	Referencias	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	Referencias	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	Referencias	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

LRR_6

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

Pre-clinical Phase

Bioactive Molecules (1)

Referencia número	Nombre del producto	Efecto	Pureza	Rare Diseases
HY-RS01930	CARMIL2 Human Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	CARMIL2	NCBI