1. Gene
  2. AMN - amnion associated transmembrane protein Gene

AMN - amnion associated transmembrane protein Gene

中文名称:羊膜相关跨膜蛋白

种属: Homo sapiens

同用名: IGS2; PRO1028; amnionless

基因 ID: 81693 | 基因类型: protein coding

关于 AMN

Cytogenetic location: 14q32.32 Genomic coordinates (GRCh38): 14:102,922,663-102,930,842 (from NCBI)

This gene has 7 transcripts (splice variants), 163 orthologues and is associated with 2 phenotypes. Biased expression in kidney (RPKM 39.0), small intestine (RPKM 30.0) and 4 other tissues.

功能概要

该基因编码的蛋白质是 I 型跨膜蛋白。它被认为通过充当辅助或辅助受体来调节骨形态发生蛋白 (BMP) 受体功能,从而促进或阻碍 BMP 结合。已知小鼠 AMN 基因在原肠胚形成过程中表达于胚外内脏内胚层,但在无羊膜小鼠中被发现发生突变。编码的蛋白质与果蝇中的短原肠胚形成 (Sog) 和前胶原 IIA 蛋白具有序列相似性。[RefSeq 提供,2008 年 7 月]

The protein encoded by this gene is a type I transmembrane protein. It is thought to modulate bone morphogenetic protein (BMP) receptor function by serving as an accessory or coreceptor, and thus facilitates or hinders BMP binding. It is known that the mouse AMN gene is expressed in the extraembryonic visceral endoderm layer during gastrulation, but it is found to be mutated in amnionless mouse. The encoded protein has sequence similarity to short gastrulation (Sog) and procollagen IIA proteins in Drosophila. [provided by RefSeq, Jul 2008]

AMN 基因产物(1)

mRNA Protein Name
NM_030943.4 NP_112205.2 protein amnionless 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 cargo receptor activity IDA
IDA: 通过直接分析推断
14576052 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
30523278 GOA
enables signaling receptor binding IPI
IPI: 通过物理相互作用推断
14576052 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in Golgi to plasma membrane protein transport IDA
IDA: 通过直接分析推断
14576052 GOA
involved in cobalamin metabolic process IDA
IDA: 通过直接分析推断
14576052 GOA
involved in cobalamin transport IDA
IDA: 通过直接分析推断
14576052 GOA
involved in receptor-mediated endocytosis IDA
IDA: 通过直接分析推断
14576052 GOA
involved in receptor-mediated endocytosis IMP
IMP: 通过突变表型推断
20088845 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in apical plasma membrane IDA
IDA: 通过直接分析推断
14576052 GOA
located in endocytic vesicle IDA
IDA: 通过直接分析推断
14576052 GOA
located in extracellular space IDA
IDA: 通过直接分析推断
14576052 GOA
located in membrane IDA
IDA: 通过直接分析推断
14576052 GOA
is active in microvillus membrane IDA
IDA: 通过直接分析推断
14576052 GOA
part of receptor complex IPI
IPI: 通过物理相互作用推断
30523278 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

AMN 蛋白结构

Amnionless

Amnionless: Amnionless (22 - 447)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 453 a.a.
蛋白主名 其他名称

protein amnionless

amnionless homolog

AMN 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
种属内
AMN Q9BXJ7 CUBN Homo sapiens O60494 30523278
种属内
AMN Q9BXJ7 CUBN Homo sapiens O60494 30523278
种属内
AMN Q9BXJ7 CUBN Homo sapiens O60494 30523278
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
Imerslund-Grasbeck Syndrome 2

IGS2

Megaloblastic Anemia, Norwegian Type

Imerslund-Grasbeck Syndrome Type 2

Megaloblastic Anemia

Imerslund-Grasbeck Syndrome

Igs

Defect Of Enterocyte Intrinsic Factor Receptor

Enterocyte Cobalamin Malabsorption

Familial Megaloblastic Anemia

Megaloblastic Anemia 1

Selective Cobalamin Malabsorption With Proteinuria

Imerslund-Gräsbeck Syndrome

Anemia, Megaloblastic

Grasbeck-Imerslund Syndrome

Megaloblastic Anaemia

Mga1 Norwegian Type

Recessive Hereditary Megaloblastic Anaemia 1

Recessive Hereditary Megaloblastic Anemia 1

Rh-Mga1

Gräsbeck-Imerslund Disease

Pernicious Anemia, Juvenile, Due To Selective Intestinal Malabsorption Of Vitamin B12, With Proteinuria

Juvenile Pernicious Anemia With Proteinuria Due To Selective Intestinal Malabsorption Of Vitamin B12

Anemia Megaloblastic

Megaloblastic Anemia Due To Inborn Errors Of Metabolism

3-@Methylglutaconic Aciduria, Type I

Vitamin B12 Deficiency

Cobalamin Deficiency

Hypocobalaminemia

Vitamin B 12 Deficiency

Cyanocobalamin Deficiency

Deficiency Of Vitamin B12

Imerslund-Grasbeck Syndrome 1

Pernicious Anemia, Juvenile, Due To Selective Intestinal Malabsorption Of Vitamin B12, With Proteinuria

IGS1

Megaloblastic Anemia, Finnish Type

Mga1

Enterocyte Cobalamin Malabsorption

Imerslund-Grasbeck Syndrome Type 1

Megaloblastic Anemia, 1

Enterocyte Intrinsic Factor Receptor, Defect Of

Defect Of Enterocyte Intrinsic Factor Receptor

Megaloblastic Anemia 1

Congenital Intrinsic Factor Deficiency

Hereditary Intrinsic Factor Deficiency

Intrinsic Factor Deficiency

Congenital Pernicious Anemia

Gastric Intrinsic Factor Deficiency

Hereditary Juvenile Megaloblastic Anemia Due To Intrinsic Factor Deficiency

Ifd

Intrinsic Factor Deficiency, Congenital, Susceptibility To

Congenital Deficiency Of Intrinsic Factor

Megaloblastic Anemia Due To Inborn Errors Of Metabolism

Donnai-Barrow Syndrome

Faciooculoacousticorenal Syndrome

Dbs/Foar Syndrome

Foar Syndrome

Diaphragmatic Hernia-Exomphalos-Hypertelorism Syndrome

Facio-Oculo-Acoustico-Renal Syndrome

Diaphragmatic Hernia, Exomphalos, Absent Corpus Callosum, Hypertelorism, Myopia, Sensorineural Deafness, And Proteinuria

Diaphragmatic Hernia-Hypertelorism-Myopia-Deafness Syndrome

Holmes-Schepens Syndrome

Syndrome Of Ocular And Facial Anomalies, Telecanthus And Deafness

DBS

Diaphragmatic Hernia Exomphalos Absent Corpus Callosum Hypertelorism Myopia Sensorineural Deafness And Proteinuria

Diaphragmatic Hernia-Exomphalos-Corpus Callosum Agenesis

Diaphragmatic Hernia-Hypertelorism-Myopia-Hearing Loss Syndrome

Syndrome Of Ocular And Facial Anomalies, Telecanthus And Hearing Loss

Donnai Barrow Syndrome

Tropical Sprue

Tropical Steatorrhea

Tropical Enteropathy

Sprue, Tropical

Sprue - Tropical

Idiopathic Tropical Malabsorption Syndrome

Tropical Steatorrhoea

Tropical Diarrhoea

Ts - [Tropical Sprue]

Psilosis

Sprue Nos

Vitamin Metabolic Disorder
Dent Disease 1

Dent Disease

Dent'S Disease

Dent Disease 2

Dent Disease Type 1

DENT1

Urolithiasis, Hypercalciuric, X-Linked

Nephrolithiasis 2

Nphl2

Dent Syndrome

Dents Disease

Low-Molecular-Weight Proteinuria With Hypercalciuria And Nephrocalcinosis

Renal Fanconi Syndrome With Nephrocalcinosis And Renal Stones

X-Linked Recessive Hypercalciuric Hypophosphatemic Rickets

X-Linked Recessive Nephrolithiasis

Fanconi Syndrome, Renal, With Nephrocalcinosis And Renal Stones

Nephrolithiasis, Hypercalciuric, X-Linked

Nephrolithiasis-Hypercalciuria X-Linked Recessive

Nephrolithiasis, X-Linked Recessive

Dent Disease, Type 1

Macrocytic Anemia

Anemia Macrocytic

Anemia, Macrocytic

Macrocytic Anaemia

Hypercholesterolemia, Familial, 4

Hypercholesterolemia, Autosomal Recessive

Arh

FHCL4

Autosomal Recessive Hypercholesterolemia

Arh1

Arh2

Autosomal Recessive Hypercholesterolemia 1

Autosomal Recessive Hypercholesterolemia 2

Fhcb1

Fhcb2

Hypercholesterolemia, Autosomal Recessive, 1, Formerly

Arh1, Formerly

Fhcb1, Formerly

Hypercholesterolemia, Autosomal Recessive, 2, Formerly

Arh2, Formerly

Fhcb2, Formerly

Familial Autosomal Recessive Hypercholesterolemia

Hypercholesterolemia, Familial, Autosomal Recessive

Hypercholesterolemia, Familial, Type 4

Pernicious Anemia

Anemia, Pernicious

Anemia Pernicious

Pernicious Anaemia

Addison'S Anaemia

Biermer'S Anaemia

Biermer'S Anemia

Acquired Pernicious Anemia

Addison-Biermer Anemia

Addisonian Anemia

Biermer Anemia

Biermer'S Disease

Juvenile Onset Pernicious Anemia

Biermer Disease

Biermer-Addison Disease

Glossitis

Inflammation Of Tongue

Tongue Inflammation

Glazed Tongue

Methylmalonic Acidemia

Methylmalonic Aciduria

Mma

Acidemia, Methylmalonic

Isolated Methylmalonic Acidemia

Fanconi Syndrome

Infantile Nephropathic Cystinosis

Adult Fanconi Syndrome

Congenital Fanconi Syndrome

De Toni-Fanconi Syndrome

Fanconi-De Toni Syndrome

Lignac-Fanconi Syndrome

Fanconi Renotubular Syndrome

Primary Fanconi Renotubular Syndrome

De Toni-Debre-Fanconi Syndrome

Adult Fanconi Anemia

Detoni Fanconi Syndrome

Fanconi-De-Toni Syndrome

Primary Fanconi Syndrome

Detoni-Debre-Fanconi Syndrome

Primary Fanconi Renal Syndrome

Fanconi Anemia

Cystinosis, Infantile Nephropathic

Fanconi-Bickel Syndrome

Renal Fanconi Syndrome

Lowe-Bickel Syndrome

Hypophosphatemic Rickets, X-Linked Recessive

Hypophosphatemic Rickets

X-Linked Recessive Hypophosphatemic Rickets

XLRHR

Hypophosphatemic Rickets Disorders

Rickets Hypophosphatemic

Rickets, Hypophosphatemic, X-Linked Recessive

Familial Hypophosphatemic Rickets

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
Mus musculus AMN MGD MGI:1934943
Bos taurus AMN VGNC VGNC:25869
Rattus norvegicus AMN RGD RGD:1308634
Macaca mulatta AMN VGNC VGNC:107993
Others AMN NCBI