COLQ (collagen like tail subunit of asymmetric acetylcholinesterase)

2014-11-01 Affiliation

Identity

HGNC

COLQ

LOCATION

3p25.1

LOCUSID

8292

ALIAS

CMS5,EAD

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000206561	ENST00000383781	Q9Y215
ENSG00000206561	ENST00000383786	Q9Y215
ENSG00000206561	ENST00000383788	Q9Y215
ENSG00000206561	ENST00000603808	A0A0C4DGS2
ENSG00000206561	ENST00000605797	S4R408

Expression (GTEx)

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 ID	Year	Title	Citations
18180250	2008	Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes.	33
22088788	2012	Long-term follow-up of patients with congenital myasthenic syndrome caused by COLQ mutations.	12
26282582	2015	SRSF1 and hnRNP H antagonistically regulate splicing of COLQ exon 16 in a congenital myasthenic syndrome.	10
28024842	2017	Congenital myasthenic syndrome in Israel: Genetic and clinical characterization.	10
28585551	2017	Sequence variants in ARHGAP15, COLQ and FAM155A associate with diverticular disease and diverticulitis.	10
24281389	2014	COOH-terminal collagen Q (COLQ) mutants causing human deficiency of endplate acetylcholinesterase impair the interaction of ColQ with proteins of the basal lamina.	9
23553736	2013	Mutations in the C-terminal domain of ColQ in endplate acetylcholinesterase deficiency compromise ColQ-MuSK interaction.	6
11865139	2002	Three novel COLQ mutations and variation of phenotypic expressivity due to G240X.	5
12609505	2003	Two novel mutations in the COLQ gene cause endplate acetylcholinesterase deficiency.	5
17300939	2007	Novel COLQ mutation 950delC in synaptic congenital myasthenic syndrome and symptomatic heterozygous relatives.	4

Citation

Dessen P

COLQ (collagen like tail subunit of asymmetric acetylcholinesterase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62010/colq-(collagen-like-tail-subunit-of-asymmetric-acetylcholinesterase)