Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	8292
Gene name	Collagen like tail subunit of asymmetric acetylcholinesterase
Gene symbol	COLQ
Synonyms (NCBI Gene)	CMS5EAD
Chromosome	3
Chromosome location	3p25.1
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 acetylcho

Show/Hide all (33)

SNP ID	Visualize variation	Clinical significance	Consequence
rs104893733	C>A	Pathogenic	Stop gained, coding sequence variant
rs104893734	G>C	Pathogenic	Stop gained, coding sequence variant
rs104893735	C>A	Pathogenic	Stop gained, coding sequence variant
rs121908922	T>A,C	Pathogenic	Stop gained, missense variant, coding sequence variant
rs121908923	T>C,G	Pathogenic	Missense variant, coding sequence variant
rs121908924	G>A,T	Pathogenic	Stop gained, synonymous variant, coding sequence variant
rs139574075	G>A,T	Likely-pathogenic	Missense variant, synonymous variant, coding sequence variant
rs143766249	G>A,C	Conflicting-interpretations-of-pathogenicity	Stop gained, missense variant, coding sequence variant
rs149020371	C>G	Pathogenic	Splice donor variant
rs185829251	G>A,T	Likely-pathogenic	Coding sequence variant, synonymous variant, stop gained
rs199470447	C>T	Pathogenic	Splice acceptor variant, intron variant
rs201376373	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic upstream transcript variant, intron variant
rs375215281	T>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs747648795	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs755236236	T>C	Pathogenic	Splice acceptor variant
rs759911990	->G	Pathogenic	Frameshift variant, coding sequence variant
rs769982050	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs770045897	G>A,C	Pathogenic	Coding sequence variant, missense variant, stop gained
rs771879602	AGAG>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs777102590	->A	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs971863968	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1057521153	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1064795839	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1085307792	C>T	Pathogenic	Splice donor variant
rs1269227357	C>T	Likely-pathogenic	Splice acceptor variant
rs1306593300	C>A,G	Likely-pathogenic	Missense variant, coding sequence variant
rs1369980189	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1384843815	T>C	Pathogenic	Intron variant
rs1553634790	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1559510978	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1559519107	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1575460231	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1575482936	G>T	Likely-pathogenic	Stop gained, intron variant, coding sequence variant

Show/Hide all (83)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017367	hsa-miR-335-5p	Microarray	18185580
MIRT903266	hsa-miR-1264	CLIP-seq
MIRT903267	hsa-miR-1273g	CLIP-seq
MIRT903268	hsa-miR-1285	CLIP-seq
MIRT903269	hsa-miR-1343	CLIP-seq
MIRT903270	hsa-miR-3074-5p	CLIP-seq
MIRT903271	hsa-miR-3187-5p	CLIP-seq
MIRT903272	hsa-miR-376a	CLIP-seq
MIRT903273	hsa-miR-376b	CLIP-seq
MIRT903274	hsa-miR-4691-3p	CLIP-seq
MIRT903275	hsa-miR-612	CLIP-seq
MIRT903276	hsa-miR-670	CLIP-seq
MIRT903277	hsa-miR-1207-3p	CLIP-seq
MIRT903266	hsa-miR-1264	CLIP-seq
MIRT903278	hsa-miR-128	CLIP-seq
MIRT903268	hsa-miR-1285	CLIP-seq
MIRT903269	hsa-miR-1343	CLIP-seq
MIRT903279	hsa-miR-1470	CLIP-seq
MIRT903280	hsa-miR-27a	CLIP-seq
MIRT903281	hsa-miR-27b	CLIP-seq
MIRT903270	hsa-miR-3074-5p	CLIP-seq
MIRT903282	hsa-miR-3165	CLIP-seq
MIRT903271	hsa-miR-3187-5p	CLIP-seq
MIRT903283	hsa-miR-3657	CLIP-seq
MIRT903284	hsa-miR-4267	CLIP-seq
MIRT903285	hsa-miR-4490	CLIP-seq
MIRT903286	hsa-miR-4640-5p	CLIP-seq
MIRT903287	hsa-miR-4667-3p	CLIP-seq
MIRT903288	hsa-miR-4726-5p	CLIP-seq
MIRT903289	hsa-miR-483-5p	CLIP-seq
MIRT903275	hsa-miR-612	CLIP-seq
MIRT903290	hsa-miR-766	CLIP-seq
MIRT903291	hsa-miR-1207-5p	CLIP-seq
MIRT903292	hsa-miR-1271	CLIP-seq
MIRT903293	hsa-miR-182	CLIP-seq
MIRT903294	hsa-miR-3121-5p	CLIP-seq
MIRT903295	hsa-miR-320a	CLIP-seq
MIRT903296	hsa-miR-320b	CLIP-seq
MIRT903297	hsa-miR-320c	CLIP-seq
MIRT903298	hsa-miR-320d	CLIP-seq
MIRT903299	hsa-miR-330-3p	CLIP-seq
MIRT903300	hsa-miR-4429	CLIP-seq
MIRT903301	hsa-miR-4677-3p	CLIP-seq
MIRT903302	hsa-miR-4736	CLIP-seq
MIRT903303	hsa-miR-4763-3p	CLIP-seq
MIRT903304	hsa-miR-657	CLIP-seq
MIRT903305	hsa-miR-96	CLIP-seq
MIRT2203688	hsa-miR-106a	CLIP-seq
MIRT2203689	hsa-miR-106b	CLIP-seq
MIRT903266	hsa-miR-1264	CLIP-seq
MIRT903278	hsa-miR-128	CLIP-seq
MIRT903268	hsa-miR-1285	CLIP-seq
MIRT903269	hsa-miR-1343	CLIP-seq
MIRT2203690	hsa-miR-17	CLIP-seq
MIRT2203691	hsa-miR-20a	CLIP-seq
MIRT2203692	hsa-miR-20b	CLIP-seq
MIRT903280	hsa-miR-27a	CLIP-seq
MIRT903281	hsa-miR-27b	CLIP-seq
MIRT903270	hsa-miR-3074-5p	CLIP-seq
MIRT903271	hsa-miR-3187-5p	CLIP-seq
MIRT2203693	hsa-miR-3672	CLIP-seq
MIRT903274	hsa-miR-4691-3p	CLIP-seq
MIRT2203694	hsa-miR-4797-3p	CLIP-seq
MIRT2203695	hsa-miR-5096	CLIP-seq
MIRT2203696	hsa-miR-513a-5p	CLIP-seq
MIRT2203697	hsa-miR-519a	CLIP-seq
MIRT2203698	hsa-miR-519b-3p	CLIP-seq
MIRT2203699	hsa-miR-519c-3p	CLIP-seq
MIRT2203700	hsa-miR-519d	CLIP-seq
MIRT2203701	hsa-miR-520g	CLIP-seq
MIRT2203702	hsa-miR-520h	CLIP-seq
MIRT903275	hsa-miR-612	CLIP-seq
MIRT2203703	hsa-miR-93	CLIP-seq
MIRT2386357	hsa-miR-1253	CLIP-seq
MIRT2386358	hsa-miR-4251	CLIP-seq
MIRT2386359	hsa-miR-4675	CLIP-seq
MIRT2386360	hsa-miR-4741	CLIP-seq
MIRT903266	hsa-miR-1264	CLIP-seq
MIRT903278	hsa-miR-128	CLIP-seq
MIRT903280	hsa-miR-27a	CLIP-seq
MIRT903281	hsa-miR-27b	CLIP-seq
MIRT2203695	hsa-miR-5096	CLIP-seq
MIRT2203696	hsa-miR-513a-5p	CLIP-seq

Show/Hide all (16)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001507	Process	Acetylcholine catabolic process in synaptic cleft	TAS	9689136
GO:0005201	Function	Extracellular matrix structural constituent	RCA	25037231
GO:0005515	Function	Protein binding	IPI	15526038, 32296183
GO:0005581	Component	Collagen trimer	IEA
GO:0005604	Component	Basement membrane	TAS	9689136
GO:0005615	Component	Extracellular space	TAS	9689136
GO:0005886	Component	Plasma membrane	IDA
GO:0008201	Function	Heparin binding	IBA
GO:0008582	Process	Regulation of synaptic assembly at neuromuscular junction	IEA
GO:0030054	Component	Cell junction	IDA
GO:0031012	Component	Extracellular matrix	HDA	25037231
GO:0031594	Component	Neuromuscular junction	IEA
GO:0043083	Component	Synaptic cleft	IEA
GO:0045202	Component	Synapse	IEA
GO:0071340	Process	Skeletal muscle acetylcholine-gated channel clustering	IEA
GO:0090150	Process	Establishment of protein localization to membrane	IEA

MIM	HGNC	e!Ensembl
603033	2226	ENSG00000206561

Q9Y215

Protein name

Acetylcholinesterase collagenic tail peptide (AChE Q subunit) (Acetylcholinesterase-associated collagen)

Protein function

Anchors the catalytic subunits of asymmetric AChE to the synaptic basal lamina.

PDB

1VZJ

Family and domains

Tissue specificity

TISSUE SPECIFICITY: Found at the end plate of skeletal muscle.

Sequence

MVVLNPMTLGIYLQLFFLSIVSQPTFINSVLPISAALPSLDQKKRGGHKACCLLTPPPPP
LFPPPFFRGGRSPLLSPDMKNLMLELETSQSPCMQGSLGSPGPPGPQGPPGLPGKTGPKG
EKGELGRPGRKGRPGPPGVPGMPGPIGWPGPEGPRGEKGDLGMMGLPGSRGPMGSKGYPG
SRGEKGSRGEKGDLGPKGEKGFPGFPGMLGQKGEMGPKGEPGIAGHRGPTGRPGKRGKQG
QKGDSGVMGPPGKPGPSGQPGRPGPPGPPPAGQLIMGPKGERGFPGPPGRCLCGPTMNVN
NPSYGESVYGPSSPRVPVIFVVNNQEELERLNTQNAIAFRRDQRSLYFKDSLGWLPIQLT
PFYPVDYTADQHGTCGDGLLQPGEECDDGNSDVGDDCIRCHRAYCGDGHRHEGVEDCDGS
DFGYLTCETYLPGSYGDLQCTQYCYIDSTPCRYFT

Sequence length

455

Interactions

View interactions

528

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the musculature	Likely pathogenic; Pathogenic	rs2125081666, rs752967536, rs2125089059, rs1203598816, rs769982050, rs1575482936	RCV001814488 RCV001814402 RCV001814496 RCV001814417 RCV001813960 RCV001836883
Cervical cancer	Pathogenic	rs149020371	RCV005912145
COLQ-related disorder	Pathogenic	rs121908923	RCV004757099
Congenital myasthenic syndrome	Pathogenic; Likely pathogenic	rs2125089093, rs2062264317, rs758554049, rs769982050, rs121908923, rs1384843815, rs2470828749, rs770045897, rs1320483615, rs139574075, rs1085307792, rs149020371	RCV005235617 RCV003490914 RCV004801218 RCV000825560 RCV004526590 RCV002307357 RCV003226771 RCV005425918 RCV005062971 RCV005433489 RCV003114548 RCV002469173 RCV002307647
Congenital myasthenic syndrome 5	Likely pathogenic; Pathogenic	rs1002244829, rs2125085542, rs2125103406, rs759874172, rs2125123167, rs769276577, rs1172409117, rs1311078034, rs2125123160, rs2125089093, rs2125085333, rs2062264317, rs2125086401, rs758554049, rs2470923715 View all (68 more)	RCV001377372 RCV001382536 RCV001381912 RCV001383387 RCV001381910 RCV001780573 RCV001780574 RCV001867239 RCV002040716 RCV002012251 RCV001923433 RCV001890728 RCV002227843 RCV002249831 RCV002463981 RCV002651643 RCV003118935 RCV002598006 RCV002835118 RCV002862122 RCV000007028 RCV000007029 RCV000007030 RCV000007031 RCV000007032 RCV000007033 RCV000007034 RCV000007035 RCV000007036 RCV003136558 RCV003153116 RCV000626064 RCV002518818 RCV003468492 RCV003468493 RCV003468494 RCV003468496 RCV003448657 RCV003468497 RCV003468498 RCV003468499 RCV003468501 RCV003468502 RCV003468503 RCV003468504 RCV003468506 RCV003468507 RCV003468508 RCV003468509 RCV003468510 RCV003468513 RCV003468514 RCV003508349 RCV003619006 RCV003880718 RCV003987295 RCV003988685 RCV003988745 RCV004575671 RCV004575672 RCV004575673 RCV004575675 RCV004575676 RCV000697877 RCV001379643 RCV000559723 RCV000644596 RCV000689041 RCV000690629 RCV000692517 RCV000735874 RCV000735875 RCV000735873 RCV000778680 RCV000779393 RCV000787281 RCV000811905 RCV000987125 RCV001004918 RCV001218104 RCV001207300 RCV001236059 RCV001239654 RCV001253467 RCV001255616 RCV001255617 RCV001280923 RCV001280924
Slow-Channel Congenital Myasthenia Syndrome	Pathogenic	rs121908923	RCV001813737
Synaptic congenital myasthenic syndromes	Likely pathogenic; Pathogenic	rs758554049, rs121908924, rs770045897, rs2470829078, rs2470828887, rs185829251	RCV003321949 RCV003321480 RCV003321579 RCV003322577 RCV003322580 RCV003321703

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Congenital Myasthenic Syndrome, Recessive	Uncertain significance; Conflicting classifications of pathogenicity; Benign	rs886058114, rs886058111, rs886058112, rs530131087, rs113510832, rs886058113, rs151131743, rs746566925, rs201205850, rs9836565	RCV000320915 RCV000277951 RCV000260350 RCV000320174 RCV000355183 RCV000266211 RCV000374771 RCV000401367 RCV000308632 RCV000341507 RCV000403115
See cases	Conflicting classifications of pathogenicity; Uncertain significance	rs113843907, rs1231911511	RCV002252682 RCV002252972

Show/Hide Text Mining Associations (15)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Atrial Fibrillation	Associate	34737791
Congenital disorder of glycosylation type 1C	Associate	9758617
Congenital myasthenic syndrome ib	Associate	33353066
Diverticular Diseases	Associate	28585551
Diverticulitis	Associate	28585551
Drug Related Side Effects and Adverse Reactions	Stimulate	15015577
Endplate Acetylcholinesterase Deficiency	Associate	22088788, 26282582, 33370874, 34553317, 9758617
Epstein Barr Virus Infections	Associate	1316087, 36286483, 38146370
Lupus Erythematosus Systemic	Associate	37841281, 38146370
Muscle Weakness	Associate	22088788
Myasthenic Syndromes Congenital	Associate	20562457, 22088788, 25557462, 26282582, 28024842, 33353066, 33370874, 33756069, 34553317, 36308527, 37721175, 9758617
Neuromuscular Junction Diseases	Associate	9758617
Pain	Associate	29395675
Salter Harris Fractures	Associate	9758617
Urinary Bladder Neoplasms	Associate	35958598

COLQ (collagen like tail subunit of asymmetric acetylcholinesterase)