COLQ - collagen like tail subunit of asymmetric acetylcholinesterase Gene

Also Known as EAD; CMS5

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 8292

About COLQ

Cytogenetic location: 3p25.1 Genomic coordinates (GRCh38): 3:15,450,133-15,521,706 (from NCBI)

This gene has 14 transcripts (splice variants), 229 orthologues, 37 paralogues and is associated with 2 phenotypes. Broad expression in heart (RPKM 7.4), lymph node (RPKM 2.8) and 19 other tissues.

Summary

This gene encodes the subunit of a collagen-like molecule associated with acetylcholinesterase in skeletal muscle. Each molecule is composed of three identical subunits. Each subunit contains a proline-rich attachment domain (PRAD) that binds an acetylcholinesterase tetramer to anchor the catalytic subunit of the enzyme to the basal lamina. Mutations in this gene are associated with endplate acetylcholinesterase deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

COLQ Products (3)

mRNA	Protein	Name
NM_005677.4	NP_005668.2	acetylcholinesterase collagenic tail peptide isoform I precursor
NM_080538.2	NP_536799.1	acetylcholinesterase collagenic tail peptide isoform II precursor
NM_080539.4	NP_536800.2	acetylcholinesterase collagenic tail peptide isoform III precursor

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	15526038	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

COLQ Protein Structure

Collagen

0
100
200
300
400
455 a.a.

Protein Preferred Names	Protein Names
acetylcholinesterase collagenic tail peptide	AChE Q subunit

COLQ Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	COLQ	Q9Y215	ACHE	Homo sapiens	P22303	X-Ray Diffraction	15526038
Intra	COLQ	Q9Y215	SGTB	Homo sapiens	Q96EQ0	Y2H Prey Pooling	32296183
Intra	COLQ	Q9Y215	SGTB	Homo sapiens	Q96EQ0	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Myasthenic Syndrome, Congenital, 5	Endplate Acetylcholinesterase Deficiency Congenital Myasthenic Syndrome 5 CMS5 Ead Engel Congenital Myasthenic Syndrome Myasthenic Syndrome, Congenital, Engel Type Cms Ic Congenital Myasthenic Syndrome Type Ic Congenital Myasthenic Syndrome Type Ic, Formerly Cms1c, Formerly Cms Ic, Formerly Congenital Myasthenic Syndrome Engel Type End Plate Acetylcholinesterase Deficiency Synaptic Congenital Myasthenic Syndromes Cms1c Cmse Congenital Myasthenic Syndrome Type 1c End-Plate Acetylcholinesterase Deficiency Myasthenic Syndrome, Congenital, Type 5
Congenital Myasthenic Syndrome	Congenital Myasthenia Congenital Myasthenic Syndromes Cms Myasthenic Syndromes, Congenital Myasthenic Syndromes Congenital Myasthenic Syndrome, Congenital Congenital Myasthenic Syndrome Ib Congenital And Developmental Myasthenia Developmental Myasthenia
Myasthenic Syndrome, Congenital, 2a, Slow-Channel	CMS2A Myasthenic Syndrome, Congenital, Postsynaptic Slow-Channel Myasthenic Syndrome, Congenital, Type Iia Sccms Myasthenic Syndrome, Slow-Channel Congenital Slow-Channel Congenital Myasthenic Syndrome Cms Iia Myasthenic Syndrome, Congenital, Slow-Channel Slow Channel Congenital Myasthenic Syndrome Myasthenic Syndrome, Congenital, Type 2a, Slow-Channel Myasthenic Syndromes, Congenital, Slow Channel
Diverticulitis
Neuromuscular Junction Disease	Neuromuscular Junction Diseases
Myasthenic Syndrome, Congenital, 21, Presynaptic	Congenital Myasthenic Syndrome 21 CMS21 Congenital Myasthenic Syndrome 21, Presynaptic
Neonatal Myasthenia Gravis	Myasthenia Gravis, Neonatal
Ptosis	Blepharoptosis Drooping Eyelid Droopy Eyelid Ptosis Of Eyelid Paralysis Of Levator Palpebrae Superioris
Internuclear Ophthalmoplegia	Ophthalmoplegia Internuclearis Bielschowsky-Lutz-Cogan Syndrome Ino - [Internuclear Ophthalmoplegia] Lhermitte Syndrome Mlf - [Medial Longitudinal Fasciculus] Syndrome Internuclear Paralysis
Megaesophagus	Esophageal Achalasia
Congenital Ptosis	Congenital Blepharoptosis Congenital Eyelid Ptosis
Myasthenic Syndrome, Congenital, 13	Congenital Myasthenic Syndrome 13 CMS13 Cmsta2 Myasthenic Syndrome, Congenital, With Tubular Aggregates 2 Myasthenic Syndrome, Congenital, 13, With Tubular Aggregates Congenital Myasthenic Syndrome 13 With Tubular Aggregates Congenital Myasthenic Syndrome With Tubular Aggregates 2 Myasthenic Syndrome, Congenital, With Tubular Aggregates, 2 Myasthenic Syndrome, Congenital, With Tubular Aggregates, Type 2
Conjugate Gaze Palsy	Palsy Of Conjugate Gaze Supranuclear Ocular Palsy Gaze Palsy
Myasthenic Syndrome, Congenital, 6, Presynaptic	Familial Infantile Myasthenia CMS6 Cmsea Congenital Myasthenic Syndrome 6 Familial Infantile Myasthenia Gravis 2 Fimg2 Myasthenic Syndrome, Congenital, Associated With Episodic Apnea Myasthenic Syndrome, Presynaptic, Congenital, Associated With Episodic Apnea Congenital Myasthenic Syndrome Type Ia2, Formerly Cms1a2, Formerly Cms Ia2, Formerly Myasthenia, Familial Infantile, Formerly Fim, Formerly Myasthenia Gravis, Familial Infantile, 2, Formerly Fimg2, Formerly Cms Ia2 Cms1a2 Congenital Myasthenic Syndrome 6, Presynaptic Congenital Myasthenic Syndrome Type Ia2 Congenital Presynaptic Myasthenic Syndrome Associated With Episodic Apnea Fim Cms1a Cms-Ea Cms Ia Congenital Myasthenic Syndrome Pre-Synaptic Associated With Episodic Apnea Congenital Myasthenic Syndrome Type 1a Congenital Myasthenic Syndrome Type Ia Myasthenic Syndrome, Congenital, Type 6, Presynaptic
Nasopharyngeal Carcinoma	Malignant Neoplasm Of Nasopharynx Npc Nasopharyngeal Cancer Nasopharyngeal Carcinoma 1 Nasopharynx Carcinoma Nasopharyngeal Neoplasms Npca Carcinoma Of Nasopharynx Malignant Nasopharyngeal Tumor Nasopharynx Cancer Squamous Cell Carcinoma Of The Nasopharynx Nasopharyngeal Neoplasm Cancer Of Nasopharynx
Myasthenic Syndrome, Congenital, 14	Congenital Myasthenic Syndrome 14 CMS14 Cmsta3 Myasthenic Syndrome, Congenital, With Tubular Aggregates 3 Myasthenic Syndrome, Congenital, 14, With Tubular Aggregates Congenital Myasthenic Syndrome 14, With Tubular Aggregates Congenital Myasthenic Syndrome With Tubular Aggregates 3 Myasthenic Syndrome, Congenital, With Tubular Aggregates, 3 Myasthenic Syndrome, Congenital, Type 14, With Tubular Aggregates
Spinal Muscular Atrophy, Distal, X-Linked 3	SMAX3 Dsmax X-Linked Distal Spinal Muscular Atrophy Type 3 X-Linked Distal Spinal Muscular Atrophy 3 Atp7a-Related Distal Motor Neuropathy X-Linked Dhmn3 X-Linked Distal Hereditary Motor Neuropathy Type 3 X-Linked Dsma3 Spinal Muscular Atrophy, Distal, X-Linked Recessive X-Linked Recessive Distal Spinal Muscular Atrophy Distal Spinal Muscular Atrophy, X-Linked, 3 DSMAX3 Spinal Muscular Atrophy Distal X-Linked Recessive Atrophy, Muscular, Spinal, Distal, X-Linked, Type 3
Ocular Motility Disease	Ocular Motility Disorders Abnormality Of Eye Movement Disorder Of Eye Movements Eye Movement Disorder Eye Movement Disorders
Neuromuscular Disease	Neuromuscular Diseases Neuromuscular Disorders Neuromuscular Disorder
Connective Tissue Disease	Connective Tissue Diseases Connective Tissue Disorder Abnormality Of Connective Tissue Disorder Of Connective Tissue Connective Tissue Disorders
Distal Arthrogryposis	Arthrogryposis Multiplex Congenita Arthrogryposis Congenital Multiple Arthrogryposis Congenital Arthromyodysplasia Fibrous Ankylosis Of Multiple Joints Guerin-Stern Syndrome Guérin-Stern Syndrome Myodystrophia Fetalis Deformans Otto Syndrome Rocher-Sheldon Syndrome Rossi Syndrome Amc Multiple Congenital Arthrogryposis Arthrogryposis Syndrome Arthrogryposis, Distal Distal Arthrogryposis Syndrome Freeman-Sheldon Syndrome Arthrogryposis, Distal, Type 2b Congenital Multiplex Arthrogryposis Amyoplasia Congenita Congenital Amyoplasia Amc - [Arthrogryposis Multiplex Congenita]
Peripheral Nervous System Disease	Peripheral Neuropathy Peripheral Nerve Disease Peripheral Nerve Disorders Neuropathy, Peripheral Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

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 (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03008	COLQ Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25094	Clps Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	COLQ	RGD	RGD:2377
Mus musculus	COLQ	MGD	MGI:1338761
Bos taurus	COLQ	VGNC	VGNC:27580
Felis catus	COLQ	VGNC	VGNC:61073
Others	COLQ	NCBI