CHRNG - cholinergic receptor nicotinic gamma subunit Gene

中文名称：胆碱能受体烟碱γ亚单位

种属: Homo sapiens

同用名: ACHRG

基因 ID: 1146 | 基因类型: protein coding

关于 CHRNG

Cytogenetic location: 2q37.1 Genomic coordinates (GRCh38): 2:232,539,692-232,548,115 (from NCBI)

This gene has 3 transcripts (splice variants), 181 orthologues, 45 paralogues and is associated with 5 phenotypes. Low expression observed in reference dataset.

功能概要

哺乳动物肌肉型乙酰胆碱受体是一种跨膜五聚体糖蛋白，具有两个 α 亚基、一个 β、一个 δ 和一个 epsilon (在成人骨骼肌中) 或 gamma (在胎儿和去神经支配的肌肉中) 亚基。该基因编码 γ 亚基，在人类妊娠第 30 周之前表达。乙酰胆碱受体的 γ 亚基在神经肌肉器官发生和配体结合中发挥作用，γ 亚基表达的破坏会阻止受体在细胞膜中的正确定位。该基因的突变会导致 Escobar 综合征和一种致命的多发性翼状胬肉综合征。肌肉型乙酰胆碱受体是自身免疫性疾病重症肌无力的主要抗原。[RefSeq 提供，2009 年 9 月]

The mammalian muscle-type acetylcholine receptor is a transmembrane pentameric glycoprotein with two alpha subunits, one beta, one delta, and one epsilon (in adult skeletal muscle) or gamma (in fetal and denervated muscle) subunit. This gene, which encodes the gamma subunit, is expressed prior to the thirty-third week of gestation in humans. The gamma subunit of the acetylcholine receptor plays a role in neuromuscular organogenesis and ligand binding and disruption of gamma subunit expression prevents the correct localization of the receptor in cell membranes. Mutations in this gene cause Escobar syndrome and a lethal form of multiple pterygium syndrome. Muscle-type acetylcholine receptor is the major antigen in the autoimmune disease myasthenia gravis.[provided by RefSeq, Sep 2009]

CHRNG 基因产物(1)

mRNA	Protein	Name
NM_005199.5	NP_005190.4	acetylcholine receptor subunit gamma precursor

基因本体论

分子功能

分子功能 GO 注释	逻辑证据	参考文献	来源
enables protein binding	IPI IPI: 通过物理相互作用推断	25416956	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

CHRNG 蛋白结构

Neur_chan_LBD

Neur_chan_memb

0
100
200
300
400
517 a.a.

蛋白主名

其他名称

acetylcholine receptor subunit gamma

acetylcholine receptor, muscle, gamma subunit

CHRNG 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
Intra	CHRNG	P07510	KRTAP10-8	Homo sapiens	P60410	Validated Y2H	25416956
Intra	CHRNG	P07510	KRTAP10-9	Homo sapiens	P60411	Validated Y2H	25416956
Intra	CHRNG	P07510	KRTAP10-7	Homo sapiens	P60409	Y2H Prey Pooling	25416956
Intra	CHRNG	P07510	KRTAP10-7	Homo sapiens	P60409	Validated Y2H	25416956
Intra	CHRNG	P07510	NOTCH2NLA	Homo sapiens	Q7Z3S9	Y2H Prey Pooling	25416956
Intra	CHRNG	P07510	NOTCH2NLA	Homo sapiens	Q7Z3S9	Y2H Array	31515488
Intra	CHRNG	P07510	NOTCH2NLA	Homo sapiens	Q7Z3S9	Validated Y2H	25416956
Intra	CHRNG	P07510	KRT31	Homo sapiens	Q15323	Validated Y2H	25416956
Intra	CHRNG	P07510	KRT31	Homo sapiens	Q15323	Y2H Prey Pooling	25416956

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

Multiple Pterygium Syndrome, Escobar Variant

Multiple Pterygium Syndrome	Pterygium
Escobar Syndrome	EVMPS
Pterygium Syndrome	Autosomal Recessive Multiple Pterygium Syndrome
Pterygium Colli Syndrome	Pterygium Universale
Autosomal Recessive Non-Lethal Multiple Pterygium Syndrome	Escobar Variant Multiple Pterygium Syndrome
Multiple Pterygium Syndrome, Nonlethal Type	Surfer'S Eye
Multiple Pterygium Syndrome Escobar Type	Multiple Pterygium Syndrome Nonlethal Type
Familial Pterygium Syndrome	Pterygium Colli
Multiple Pterygium Syndrome, Non-Lethal Type	Nonlethal Type Multiple Pterygium Syndrome
Pterygium Syndrome, Multiple, Escobar Type	Pterygium Of Eye
Web Eye

Multiple Pterygium Syndrome, Lethal Type

LMPS	Lethal Multiple Pterygium Syndrome
Pterygium Syndrome, Multiple, Lethal Type	Multiple Pterygium Syndrome Lethal Type
Pterygium Syndrome Multiple Lethal Type	Autosomal Recessive Lethal Multiple Pterygium Syndrome

Rheumatoid Arthritis

RA	Arthritis, Rheumatoid
Rheumatoid Arthritis, Susceptibility To	Arthritis Or Polyarthritis, Rheumatic
Atrophic Arthritis	Rheumatism Arthritis
Rheumatoid Polyarthritis

Myasthenia Gravis

MG	Acquired Myasthenia
Autoimmune Myasthenia Gravis	Erb-Goldflam Disease
Mg - [Myasthenia Gravis]	Myasthenia Gravis Nos
Myasthenia

Scoliosis

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]

Fetal Akinesia Deformation Sequence 1

Fetal Akinesia Deformation Sequence	Fads
Fetal Akinesia Sequence	FADS1
Arthrogryposis Multiplex Congenita With Pulmonary Hypoplasia	Pena-Shokeir Syndrome Type 1
Fetal Akinesia Deformation Sequence Syndrome	Arthrogryposis Multiplex Congenita-Pulmonary Hypoplasia Syndrome
Arthrogryposis Multiplex Congenita Pulmonary Hypoplasia	Pena-Shokeir Syndrome, Type I
Foetal Akinesia Deformation Sequence Syndrome	Foetal Akinesia Sequence
Fetal Akinesia Deformation Sequence Syndrome 1	Pena-Shokeir Syndrome, Type 1
Pena Shokeir Syndrome, Type 1	Akinesia, Fetal, Deformation Sequence
Akinesia, Fetal, Deformation Sequence, Type 1	Pena-Shokeir Syndrome Type I

Peripheral Nervous System Disease

Peripheral Neuropathy	Peripheral Nerve Disease
Peripheral Nerve Disorders	Neuropathy, Peripheral
Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

Congenital Contractures

Congenital Contracture

Myasthenic Syndrome, Congenital, 4b, Fast-Channel

Congenital Myasthenic Syndrome 4b	CMS4B
Congenital Myasthenic Syndrome 4b Fast-Channel	Myasthenic Syndrome, Congenital, Type 4b, Fast-Channel

Oligohydramnios

Oligohydramnios - Delivered	Antepartum Oligohydramnios
Delivered Oligohydramnios	Oligohydramnios, Antepartum Condition Or Complication
Deficient Liquor	Oligohydramnios, Unspecified Trimester
Reduced Liquor Volume

Cystic Lymphangioma

Cystic Hygroma	Cavernous Lymphangioma
Macrocystic Lymphatic Malformation	Cavernous Lymphatic Malformation
Macrocystic Lymphangioma	Lymphangioma, Cystic

Arthrogryposis, Distal, Type 5d

Distal Arthrogryposis Type 5d	DA5D
Distal Arthrogryposis Type 5 Without Ophthalmoparesis	Distal Arthrogryposis Type 5 Without Ophthalmoplegia
Arthrogryposis, Distal, 5d

Spondylocarpotarsal Synostosis Syndrome

SCT	Spondylocarpotarsal Syndrome
Vertebral Fusion With Carpal Coalition	Congenital Scoliosis With Unilateral Unsegmented Bar
Congenital Synspondylism	Spondylocarpotarsal Synostosis
Synspondylism, Congenital	Scoliosis, Congenital, With Unilateral Unsegmented Bar
Scoliosis, Congenital With Unilateral Unsegmented Bar	Synspondylism Congenital
Sct Syndrome	Synspondylism

Myasthenic Syndrome, Congenital, 4c, Associated With Acetylcholine Receptor Deficiency

Congenital Myasthenic Syndrome 4c	CMS4C
Cms Id	Cms1d
Congenital Myasthenic Syndrome Type Id	Fim1
Myasthenic Syndrome, Congenital, Associated With Acetylcholine Receptor Deficiency	Myasthenic Syndrome, Congenital, Type Id
Cms1d, Formerly	Cms Id, Formerly
Myasthenia, Familial Infantile, 1, Formerly	Fim1, Formerly
Congenital Myasthenic Syndrome 4c Associated With Acetylcholine Receptor Deficiency	Familial Infantile Myasthenia 1
Cms1e	Cms-Achrd
Cms Ie	Congenital Myasthenic Syndrome Post-Synaptic Associated With Acetylcholine Receptor Deficiency
Congenital Myasthenic Syndrome Type 1d	Congenital Myasthenic Syndrome Type 1e
Congenital Myasthenic Syndrome Type Ie	Congenital Myasthenic Syndrome With Facial Dysmorphism Associated With Acetylcholine Receptor Deficiency
Myasthenia, Familial Infantile, 1	Myasthenic Syndrome, Congenital, Type 4c, Associated With Acetylcholine Receptor Deficiency
Myasthenic Syndrome, Congenital, Ie

Spinal Muscular Atrophy Type 0

Very Severe Spinal Muscular Atrophy

Ptosis

Blepharoptosis	Drooping Eyelid
Droopy Eyelid	Ptosis Of Eyelid
Paralysis Of Levator Palpebrae Superioris

Neonatal Myasthenia Gravis

Myasthenia Gravis, Neonatal

Neuromuscular Junction Disease

Neuromuscular Junction Diseases

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

Xeroderma Pigmentosum Group E

Xeroderma Pigmentosum, Group E	Xeroderma Pigmentosum V
Xp Group E	Xp5
Xpe	Xeroderma Pigmentosum, Complementation Group E

Myopia

Near-Sightedness	Short-Sightedness
Nearsightedness	Nearsighted
Near Vision	Close Sighted
Myopic	Short-Sighted
Near Sighted

Congenital Ptosis

Congenital Blepharoptosis

Congenital Eyelid Ptosis

Tobacco Addiction

Nicotine Dependence	Tobacco Addiction, Susceptibility To
Nicotine Addiction	Tobacco Use Disorder
Smoking Habit	Nicotine Dependence, Protection Against
Nicotine Addiction, Protection From	Cigarette Habituation
Cigarette Habituation, Susceptibility To	Smoking Habit, Susceptibility To
Nicotine Dependence, Susceptibility To	Nicotine Addiction, Susceptibility To
Addiction, Tobacco, Susceptibility To	Compulsive Tobacco User Syndrome
Tobacco Dependence	Tobacco Dependence Syndrome
Cigarette Addiction	Cigarette Dependence
Smoking Addiction	Smokers Syndrome

Neuromuscular Disease

Neuromuscular Diseases	Neuromuscular Disorders
Neuromuscular Disorder

Cryptorchidism, Unilateral Or Bilateral

Cryptorchidism	Undescended Testicle
Undescended Testis	Cryptorchism
Undescended Testicles	CRYPTO
Impaired Testicular Descent	Cryptosporidiosis
Retained Testis	Unilateral Cryptorchidism
Unilateral Undescended Testis	Nondescent Unilateral Testicle
Unilateral Cryptorchism	Ectopic Testis, Unilateral
Bilateral Cryptorchidism	Bilateral Cryptorchism
Bilateral Nondescent Testicle	Bilateral Undescended Testes
Bilateral Ectopic Testes

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS02680	CHRNG Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Felis catus	CHRNG	VGNC	VGNC:60887
Mus musculus	CHRNG	MGD	MGI:87895
Canis familiaris	CHRNG	VGNC	VGNC:39248
Bos taurus	CHRNG	VGNC	VGNC:27336
Rattus norvegicus	CHRNG	RGD	RGD:2354
Macaca mulatta	CHRNG	VGNC	VGNC:71054

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