1. Gene
  2. AGRN - agrin Gene

AGRN - agrin Gene

中文名称:一咧嘴

种属: Homo sapiens

同用名: CMS8; AGRIN; CMSPPD

基因 ID: 375790 | 基因类型: protein coding

关于 AGRN

Cytogenetic location: 1p36.33 Genomic coordinates (GRCh38): 1:1,020,120-1,056,116 (from NCBI)

This gene has 10 transcripts (splice variants), 196 orthologues, 27 paralogues and is associated with 3 phenotypes. Broad expression in kidney (RPKM 31.2), lung (RPKM 13.9) and 21 other tissues.

功能概要

该基因编码的几种蛋白质中的一种对神经肌肉接头 (NMJ) 的发育至关重要,正如在小鼠基因敲除研究中所确定的那样。编码的蛋白质包含几个层粘连蛋白 G、Kazal 型丝氨酸蛋白酶抑制剂和表皮生长因子结构域。发生额外的翻译后修饰以添加糖胺聚糖和二硫键。在一个患有影响肢带肌肉的先天性肌无力综合征的家族中,发现了该基因的突变。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供,2015 年 3 月]

This gene encodes one of several proteins that are critical in the development of the neuromuscular junction (NMJ), as identified in mouse knock-out studies. The encoded protein contains several laminin G, Kazal type Serine Protease Inhibitor, and epidermal growth factor domains. Additional post-translational modifications occur to add glycosaminoglycans and disulfide bonds. In one family with congenital myasthenic syndrome affecting limb-girdle muscles, a mutation in this gene was found. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2015]

AGRN 基因产物(3)

mRNA Protein Name
NM_001305275.2 NP_001292204.1 agrin isoform 1 precursor
NM_001364727.2 NP_001351656.1 agrin isoform 3
NM_198576.4 NP_940978.2 agrin isoform 2 precursor
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
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
9417121 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in receptor clustering IDA
IDA: 通过直接分析推断
15340048 GOA
involved in receptor clustering IMP
IMP: 通过突变表型推断
9151673 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in basement membrane IDA
IDA: 通过直接分析推断
9405491 GOA
located in collagen-containing extracellular matrix IDA
IDA: 通过直接分析推断
17628813 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

AGRN 蛋白结构

NtA

NtA: Agrin NtA domain (30 - 157)

Kazal_2

Kazal_2: Kazal-type serine protease inhibitor domain (202 - 242)

Kazal_2

Kazal_2: Kazal-type serine protease inhibitor domain (283 - 317)

Kazal_1

Kazal_1: Kazal-type serine protease inhibitor domain (346 - 389)

Kazal_1

Kazal_1: Kazal-type serine protease inhibitor domain (416 - 461)

Kazal_2

Kazal_2: Kazal-type serine protease inhibitor domain (494 - 534)

Kazal_1

Kazal_1: Kazal-type serine protease inhibitor domain (555 - 599)

Kazal_2

Kazal_2: Kazal-type serine protease inhibitor domain (629 - 664)

Kazal_2

Kazal_2: Kazal-type serine protease inhibitor domain (709 - 750)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (793 - 835)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (847 - 885)

Kazal_2

Kazal_2: Kazal-type serine protease inhibitor domain (928 - 969)

SEA

SEA: SEA domain (1131 - 1237)

EGF

EGF: EGF-like domain (1333 - 1363)

Laminin_G_1

Laminin_G_1: Laminin G domain (1400 - 1530)

EGF

EGF: EGF-like domain (1553 - 1583)

Laminin_G_1

Laminin_G_1: Laminin G domain (1668 - 1798)

EGF

EGF: EGF-like domain (1823 - 1851)

Laminin_G_1

Laminin_G_1: Laminin G domain (1898 - 2028)

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 2045 a.a.
蛋白主名 其他名称

agrin

agrin proteoglycan

重组 AGRN 蛋白

目录号 产品名 蛋白编号 纯度
HY-P79236 Agrin Protein, Human (CHO, His) O00468-6/NP_940978 (A1260-P2045) ≥95%
HY-P79343 Agrin Protein, Human (1073a.a, CHO, His) O00468-1 (T30-R1102) ≥95%

关联疾病

疾病名称 别名
Myasthenic Syndrome, Congenital, 8

Congenital Myasthenic Syndrome 8

CMS8

Myasthenic Syndrome, Congenital, With Pre- And Postsynaptic Defects

Cmsppd

Myasthenic Syndrome, Congenital, 8, With Pre- And Postsynaptic Defects

Congenital Myasthenic Syndrome Due To Agrin Deficiency

Myasthenic Syndrome, Congenital, Due To Agrin Deficiency

Congenital Myasthenic Syndrome 8 With Pre- And Postsynaptic Defects

Myasthenic Syndrome, Congenital, Type 8, With Pre- And Postsynaptic Defects

Presynaptic Congenital Myasthenic Syndromes

Presynaptic Congenital Myasthenic Syndrome

Congenital Myasthenic Syndromes, Presynaptic

Postsynaptic Congenital Myasthenic Syndromes

Congenital Myasthenic Syndromes, Postsynaptic

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

Myasthenia Gravis

MG

Acquired Myasthenia

Autoimmune Myasthenia Gravis

Erb-Goldflam Disease

Mg - [Myasthenia Gravis]

Myasthenia Gravis Nos

Myasthenia

Neuromuscular Junction Disease

Neuromuscular Junction Diseases

Focal Segmental Glomerulosclerosis

Familial Idiopathic Steroid-Resistant Nephrotic Syndrome

Focal Glomerulosclerosis

Fsgs

Segmental Glomerulosclerosis

Glomerulosclerosis, Focal Segmental

Fgs

Focal Glomerular Sclerosis

Familial Idiopathic Nephrotic Syndrome

Focal Sclerosis With Hyalinosis

Glomerulosclerosis, Focal

Glomerulosclerosis Focal

Glomerulosclerosis, Segmental, Focal

Focal Segmental Glomerulosclerosis, Not Otherwise Specified

Cenani-Lenz Syndactyly Syndrome

Syndactyly Type 7

Cenani Syndactylism

Cenani-Lenz Syndactyly

CLSS

Syndactyly Cenani Lenz Type

Cenani-Lenz Syndrome

Syndactyly, Type Vii

Cenani-Lenz Type Syndactyly

Cenani Syndactyly

Syndactyly Type Vii

Sclerosteosis 2

SOST2

Sclerosteosis, Type 2

Pierson Syndrome

Microcoria-Congenital Nephrotic Syndrome

Microcoria-Congenital Nephrosis Syndrome

PIERS

Microcoria - Congenital Nephrosis

Microcoria - Congenital Nephrotic Syndrome

PIERSS

Muscular Dystrophy

Muscular Dystrophies

Congenital Md

Congenital Muscular Dystrophy

Cmd

Mdc

Dystrophy, Muscular

Gower'S Muscular Dystrophy

Progressive Musclular Dystrophy

Pseudohypertrophic Atrophy

Pseudohypertrophic Muscle Paralysis

Pseudohypertrophic Muscular Atrophy

Pseudohypertrophic Muscular Dystrophy

Pseudohypertrophic Paralysis

Pseudomuscular Hypertrophy

Neonatal Myasthenia Gravis

Myasthenia Gravis, Neonatal

Diffuse Mesangial Sclerosis

Familial Mesangial Sclerosis

Mesangial Sclerosis, Diffuse

Dms

Diffuse Isolated Mesangial Sclerosis

Isolated Diffuse Mesangial Sclerosis

Nephrotic Syndrome, Early Onset With Diffuse Mesangial Sclerosis

Muscular Dystrophy, Congenital Merosin-Deficient, 1a

MDC1A

Lama2-Related Muscular Dystrophy

Atrophie Blanche

Muscular Dystrophy, Congenital Merosin-Deficient

Congenital Merosin-Deficient Muscular Dystrophy 1a

Merosin-Negative Congenital Muscular Dystrophy

Muscular Dystrophy White Matter Spongiosis

Merosin Deficient Congenital Muscular Dystrophy

Muscular Dystrophy Congenital, Merosin Negative

Muscular Dystrophy, Congenital, Merosin Deficient Or Partially Deficient

Cmd1a

Congenital Muscular Dystrophy Due To Laminin Alpha2 Deficiency

Congenital Muscular Dystrophy Type 1a

Laminin Alpha-2 Deficiency

Merosin-Deficient Congenital Muscular Dystrophy

Muscular Dystrophy, Congenital, Merosin-Deficient

Lama2 Md

Laminin Alpha 2 Deficiency

Laminin Alpha-2 Deficient Muscular Dystrophy

Merosin-Deficient Muscular Dystrophy

Muscular Dystrophy Due To Lama2 Deficiency

Merosin-Deficient Congenital Muscular Dystrophy 1a

Cardiomyopathy, Familial Idiopathic

Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities

NPHS5

Nephrotic Syndrome Type 5

Nephrotic Syndrome Type 5, With Or Without Ocular Abnormalities

Nephrotic Syndrome 5 With Or Without Ocular Abnormalities

Nephrotic Syndrome, Type 5, With/Without Ocular Abnormalities

Partial Optic Atrophy
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

Walker-Warburg Syndrome

Hard Syndrome

Walker-Warburg Congenital Muscular Dystrophy

Cerebroocular Dysplasia-Muscular Dystrophy Syndrome

Cod-Md Syndrome

Chemke Syndrome

Hydrocephalus, Agyria And Retinal Dysplasia

Cerebroocular Dysgenesis

Cerebroocular Dysplasia Muscular Dystrophy Syndrome

Hard +/- E Syndrome

Pagon Syndrome

Warburg Syndrome

Hydrocephalus, Agyria, And Retinal Dysplasia

Mddga

Muscular Dystrophy-Dystroglycanopathy , Type A

Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A

Hydrocephalus-Agyria-Retinal Dysplasia Syndrome

Wws

Dystrophy, Muscular, Dystroglycanopathy, Type A

Muscular Dystrophy-Dystroglycanopathy , Type B, 1

MDDGB1

Muscular Dystrophy-Dystroglycanopathy , Type B1

Muscular Dystrophy, Congenital, Pomt1-Related

Muscular Dystrophy-Dystroglycanopathy Type B1

Cmd Due To Dystroglycanopathy

Muscular Dystrophy-Dystroglycanopathy Congenital With Impaired Intellectual Development B1

Muscular Dystrophy Congenital Pomt1-Related

Muscular Dystrophy-Dystroglycanopathy

Dystrophy, Muscular, Dystroglycanopathy , Type B1

Congenital Muscular Dystrophy-Dystroglycanopathy Type A

Congenital Muscular Alpha-Dystroglycanopathy With Brain And Eye Anomalies

Mddga

Klissencephaly Type 2 With Muscular And Ocular Involvement

Lissencephaly Type 2 With Muscular And Ocular Involvement

Muscular Dystrophy-Dystroglycanopathy , Type A, 4

Fukuyama Congenital Muscular Dystrophy

Fcmd

MDDGA4

Fukuyama Type Congenital Muscular Dystrophy

Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Fktn-Related

Cerebromuscular Dystrophy, Fukuyama Type

Fukuyama Cmd

Fukuyama Muscular Dystrophy

Fukuyama Syndrome

Muscular Dystrophy, Congenital Progressive, With Mental Retardation

Muscular Dystrophy, Congenital, Fukuyama Type

Muscular Dystrophy, Congenital, With Central Nervous System Involvement

Polymicrogyria With Muscular Dystrophy

Congenital Muscular Dystrophy, Fukuyama Type

Fktn-Related Congenital Muscular Dystrophy

Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A4

Cerebromuscular Dystrophy Fukuyama Type

Congenital Muscular Dystrophy Fukuyama Type

Micropolygyria With Muscular Dystrophy

Muscle-Eye-Brain Disease Fktn-Related

Walker-Warburg Syndrome Fktn-Related

Asperger Syndrome

Asperger Disorder

Asperger Syndrome, Susceptibility To

Autoimmune Disease Of Peripheral Nervous System
Thymus Gland Disease

Disease Of Thymus Gland

Thymus Cancer

Thymic Neoplasm

Thymic Tumor

Thymus Neoplasm

Thymus Neoplasms

Malignant Neoplasm Of Thymus

Neoplasm Of Thymus

Thymic Neoplasms

Thymoma, Familial

Thymic Carcinoma

Thymoma, Type C

Cancer Of Thymus

Malignant Tumour Of Thymus

Primary Malignant Neoplasm Of Thymus

Thymic Glandular Cancer

Thymus Gland Cancer

Porencephaly
Neuromuscular Disease

Neuromuscular Diseases

Neuromuscular Disorders

Neuromuscular Disorder

Autosomal Recessive Alport Syndrome

Alport Syndrome, Recessive Type

Alport Syndrome, Autosomal Recessive

Alport Syndrome Autosomal Recessive

Alport Syndrome Recessive Type

Nephropathy And Deafness

Alport Syndrome

Hereditary Nephritis

Alport Syndrome, X-Linked

Hemorrhagic Hereditary Nephritis

Congenital Hereditary Hematuria

Hemorrhagic Familial Nephritis

Familial Nephritis

Thin Basement Membrane Disease

Thin Basement Membrane Nephropathy

Hematuria-Nephropathy-Deafness Syndrome

Hematuric Hereditary Nephritis

Hereditary Familial Congenital Hemorrhagic Nephritis

Hereditary Hematuria Syndrome

Hereditary Interstitial Pyelonephritis

Alport Deafness-Nephropathy

Alport Hearing Loss-Nephropathy

Alports Syndrome

Nephritis, Hereditary

Autosomal Recessive Limb-Girdle Muscular Dystrophy

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive

Limb-Girdle Muscular Dystrophy

Lgmd

Limb Girdle Muscular Dystrophy

Muscular Dystrophies, Limb-Girdle

Erb'S Muscular Dystrophy

Leyden-Mbius Muscular Dystrophy

Limb-Girdle Syndrome

Myopathic Limb-Girdle Syndrome

Limb Girdle

Muscular Dystrophy Limb-Girdle

Dystrophy, Muscular, Limb-Girdle

Lgmd - [Limb-Girdle Muscular Dystrophy]

Limb Girdle Muscle Dystrophy

Limb-Girdle Myopathy

Ptosis

Blepharoptosis

Drooping Eyelid

Droopy Eyelid

Ptosis Of Eyelid

Paralysis Of Levator Palpebrae Superioris

Autosomal Recessive Intellectual Developmental Disorder

Mental Retardation, Autosomal Recessive

Autosomal Recessive Mental Retardation

Autosomal Recessive Non-Syndromic Mental Retardation

Autosomal Recessive Non-Syndromic Intellectual Disability

Alzheimer Disease, Familial, 1

Alzheimer Disease

Alzheimer'S Disease

Presenile And Senile Dementia

AD1

Alzheimer Disease, Susceptibility To

Alzheimer Disease, Late-Onset, Susceptibility To

Alzheimer Disease 1, Familial

AD

Familial Alzheimer Disease

Alzheimer Disease, Late-Onset

Alzheimers Dementia

Alzheimer Dementia

Alzheimer Sclerosis

Alzheimer Syndrome

Alzheimer-Type Dementia

Dat

Primary Senile Degenerative Dementia

Sdat

Alzheimer Disease 1

Autosomal Dominant Alzheimer Disease

Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy

Late Onset Alzheimer Disease

Alzheimers Disease

Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy

Late-Onset Alzheimers Disease

Alzheimer'S Disease Pathway Kegg

Dementia Due To Alzheimer'S Disease

Alzheimer Disease Type 1

Alzheimers

Peripheral Nervous System Disease

Peripheral Neuropathy

Peripheral Nerve Disease

Peripheral Nerve Disorders

Neuropathy, Peripheral

Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

Myopathy

Muscular Diseases

Myopathies

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis

ALS

Lou Gehrig Disease

Amyotrophic Lateral Sclerosis Type 1

Charcot Disease

ALS1

Amyotrophic Lateral Sclerosis, Susceptibility To

Fals

Lou Gehrig'S Disease

Mnd

Motor Neuron Disease

Familial Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis 1, Familial

Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

Motor Neuron Disease, Bulbar

Motor Neurone Disease

Amyotrophic Lateral Sclerosis With Dementia

Dementia With Amyotrophic Lateral Sclerosis

Motor Neuron Disease, Amyotrophic Lateral Sclerosis

Sclerosis, Lateral, Amyotrophic

Sclerosis, Lateral, Amyotrophic, Type 1

Amyotrophic Sclerosis

Als - [Amyotrophic Lateral Sclerosis]

Wasting Palsy

Amyotrophic Paralysis

Amyotrophy Lateral Sclerosis

Wasting Paralysis

Spinal Progressive Amyotrophy

Progressive Atrophic Paralysis

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

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus AGRN RGD RGD:2067
Felis catus AGRN VGNC VGNC:82427
Canis familiaris AGRN VGNC VGNC:37716
Macaca mulatta AGRN VGNC VGNC:69749
Bos taurus AGRN VGNC VGNC:25742
Mus musculus AGRN MGD MGI:87961
Others AGRN NCBI