COLQ (collagen like tail subunit of asymmetric acetylcholinesterase)

2014-11-01  

Identity

HGNC
COLQ
LOCATION
3p25.1
LOCUSID
8292
ALIAS
CMS5,EAD
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 8292
MIM: 603033
HGNC: 2226
Ensembl: ENSG00000206561

Variants:

dbSNP: 8292
ClinVar: 8292
TCGA: ENSG00000206561
COSMIC: COLQ

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000206561ENST00000383781Q9Y215
ENSG00000206561ENST00000383786Q9Y215
ENSG00000206561ENST00000383788Q9Y215
ENSG00000206561ENST00000603808A0A0C4DGS2
ENSG00000206561ENST00000605797S4R408

Expression (GTEx)

0
5
10
15
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

References

Pubmed IDYearTitleCitations
384759102024COLQ-Congenital myasthenic syndrome in an Iranian cohort: the clinical and genetics spectrum.0
384759102024COLQ-Congenital myasthenic syndrome in an Iranian cohort: the clinical and genetics spectrum.0
367648592023Congenital myasthenic syndrome by mutation of the ColQ gene: Phenotypic and evolutionary profile of three Algerian families.0
373567212023The collagen ColQ binds to LRP4 and regulates the activation of the Muscle-Specific Kinase-LRP4 receptor complex by agrin at the neuromuscular junction.1
376467032023Delineation of molecular characteristics of congenital myasthenic syndromes in Indian families and review of literature.0
380034062023Molecular Analysis of a Congenital Myasthenic Syndrome Due to a Pathogenic Variant Affecting the C-Terminus of ColQ.0
367648592023Congenital myasthenic syndrome by mutation of the ColQ gene: Phenotypic and evolutionary profile of three Algerian families.0
373567212023The collagen ColQ binds to LRP4 and regulates the activation of the Muscle-Specific Kinase-LRP4 receptor complex by agrin at the neuromuscular junction.1
376467032023Delineation of molecular characteristics of congenital myasthenic syndromes in Indian families and review of literature.0
380034062023Molecular Analysis of a Congenital Myasthenic Syndrome Due to a Pathogenic Variant Affecting the C-Terminus of ColQ.0
342250522021COLQ and ARHGAP15 are Associated with Diverticular Disease and are Expressed in the Colon.1
342250522021COLQ and ARHGAP15 are Associated with Diverticular Disease and are Expressed in the Colon.1
333530662020The First Case of Congenital Myasthenic Syndrome Caused by a Large Homozygous Deletion in the C-Terminal Region of COLQ (Collagen Like Tail Subunit of Asymmetric Acetylcholinesterase) Protein.5
333530662020The First Case of Congenital Myasthenic Syndrome Caused by a Large Homozygous Deletion in the C-Terminal Region of COLQ (Collagen Like Tail Subunit of Asymmetric Acetylcholinesterase) Protein.5
296305572018Newly discovered COLQ gene mutation and its clinical features in patients with acetyl cholinesterase deficiency.5

Citation

Dessen P

COLQ (collagen like tail subunit of asymmetric acetylcholinesterase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

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