1. Gene
  2. COIL - coilin Gene

COIL - coilin Gene

Homo sapiens

Also known as CLN80; p80-coilin

Gene ID: 8161 | Gene type: protein coding

About COIL

Cytogenetic location: 17q22 Genomic coordinates (GRCh38): 17:56,938,199-56,961,050 (from NCBI)

This gene has 2 transcripts (splice variants) and 202 orthologues. Broad expression in testis (RPKM 65.0), thyroid (RPKM 8.3) and 22 other tissues.

Summary

The protein encoded by this gene is an integral component of Cajal bodies (also called coiled bodies). Cajal bodies are nuclear suborganelles of varying number and composition that are involved in the post-transcriptional modification of small nuclear and small nucleolar RNAs. The N-terminus of the coilin protein directs its self-oligomerization while the C-terminus influences the number of nuclear bodies assembled per cell. Differential methylation and phosphorylation of coilin likely influences its localization among nuclear bodies and the composition and assembly of Cajal bodies. This gene has pseudogenes on chromosome 4 and chromosome 14. [provided by RefSeq, Jul 2008]

COIL Products(1)

mRNA Protein Name
NM_004645.3 NP_004636.1 coilin
Protein Preferred Names Protein Names

coilin

coilin p80

Related Diseases

Diseases Alias
Spinal Muscular Atrophy

Sma

5q Sma

Proximal Sma

Sma-Associated Sma

Spinal Amyotrophies

Spinal Amyotrophy

Spinal Muscle Degeneration

Spinal Muscle Wasting

Muscular Atrophy Spinal

Atrophy, Muscular, Spinal

Hereditary Motor Neuronopathy

Progressive Muscular Atrophy

Sma - [Spinal Muscular Atrophy]

Actinomycosis

Actinomycetoma

Boil

Canaliculitis

Actinomycotic Infection

Actinomycotic Madura Foot

Keratoactinomycosis

Furuncle

Actinomycotic Mycetema

Actinomycotic Mycetoma Of Foot

Madura Foot Due To Actinomadura

Actinomyces Israeli

Actinomycetes

Anaerobic Actinomyces Infection

Actinomycotic Infection Of Unspecified Site

Actinomycosis Nos

Actinomycotic Node

Actinomyces Infection

Actinomycotic Mycetoma

Mycetoma Due To Filamentous Bacteria

Muscular Atrophy

Muscle Wasting

Amyotrophia

Wasting - Muscle

Skeletal Muscle Atrophy

Differentiating Neuroblastoma
Dyskeratosis Congenita

Dyskeratosis Congenita Autosomal Dominant

Dc

Dkc

Zinsser-Engman-Cole Syndrome

Dyskeratosis Congenita, Autosomal Dominant

Autosomal Dominant Dyskeratosis Congenita

Dkca

Dyskeratosis Congenita Scoggins Type

Zinsser-Cole-Engman Syndrome

X-Linked Dyskeratosis Congenita

Hoyeraal-Hreidarsson Syndrome

Systemic Lupus Erythematosus

Lupus Nephritis

SLE

Disseminated Lupus Erythematosus

Systemic Lupus Erythematosus, Susceptibility To

Lupus Erythematosus, Systemic

Lupus Nephritis, Susceptibility To

Libman-Sacks Disease

Systemic Lupus Erythematosus Susceptibility To

Sle - Lupus Erythematosus, Systemic

Le Syndrome

Lupus

Lupus Erythematosus Systemic

Lupus Erythematosus, Systemic, Susceptibility To

Lupus Vulgaris

Lupus Erythematosus, Discoid

Lupus Erythematosus

Systemic Lupus Erythematosus Nos

Sle - [Systemic Lupus Erythematosus]

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

Orthologs Information

Species Symbol Source ID
Rattus norvegicus COIL RGD RGD:62031
Felis catus COIL VGNC VGNC:61051
Mus musculus COIL MGD MGI:104842
Bos taurus COIL VGNC VGNC:27552
Canis familiaris COIL VGNC VGNC:39454
Others COIL NCBI