1. Gene
  2. AMER1 - APC membrane recruitment protein 1 Gene

AMER1 - APC membrane recruitment protein 1 Gene

中文名称:APC 膜募集蛋白 1

种属: Homo sapiens

同用名: WTX; OSCS; FAM123B

基因 ID: 139285 | 基因类型: protein coding

关于 AMER1

Cytogenetic location: Xq11.2 Genomic coordinates (GRCh38): X:64,185,117-64,205,708 (from NCBI)

This gene has 1 transcript (splice variant), 189 orthologues, 2 paralogues and is associated with 99 phenotypes. Ubiquitous expression in ovary (RPKM 3.7), esophagus (RPKM 1.8) and 25 other tissues.


该基因编码的蛋白质上调 Wilms 肿瘤蛋白的转录激活,并与许多其他蛋白质相互作用,包括 CTNNB1、APC、AXIN1 和 AXIN2。该基因的缺陷是导致颅骨硬化性骨病 (OSCS) 的原因。[RefSeq 提供,2010 年 5 月]

The protein encoded by this gene upregulates trancriptional activation by the Wilms tumor protein and interacts with many other proteins, including CTNNB1, APC, AXIN1, and AXIN2. Defects in this gene are a cause of osteopathia striata with cranial sclerosis (OSCS). [provided by RefSeq, May 2010]

AMER1 基因产物(1)

mRNA Protein Name
NM_152424.4 NP_689637.3 APC membrane recruitment protein 1

AMER1 蛋白结构


WTX: WTX protein (88 - 539)

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  • 1135 a.a.
蛋白主名 其他名称

APC membrane recruitment protein 1



疾病名称 别名
Osteopathia Striata With Cranial Sclerosis

Hyperostosis Generalisata With Striations

Robinow-Unger Syndrome


Osteopathia Striata Cranial Sclerosis

Osteopathia Striata-Cranial Sclerosis Syndrome

Horan-Beighton Syndrome


Osteopathia Striata - Cranial Sclerosis

Voorhoeve Disease


Cleft Palate, Isolated

Cleft Palate

Isolated Cleft Palate




Cleft Palate Isolated


Congenital Fissure Of Palate

Cleft Of Secondary Palate

Colorectal Cancer

Colon Cancer

Colorectal Carcinoma

Colon Carcinoma

Colorectal Cancer, Susceptibility To

Carcinoma Of Colon


Colorectal Cancer With Chromosomal Instability, Somatic

Colon Cancer, Somatic

Colon Cancer, Susceptibility To

Colonic Neoplasms

Colorectal Neoplasms

Colorectal Cancer, Somatic

Colon Cancer, Advanced, Somatic

Colonic Carcinoma

Colorectal Carcinomas

Colon Cancers

Colorectal Cancers

Cancer, Colorectal, Somatic

Cancer, Colon

Cancer, Colorectal, Susceptibility To

Colorectal Neoplasm

Colonic Neoplasm

Malignant Tumor Of Colon

Rectum Adenocarcinoma

Rectal Adenocarcinoma

Adenocarcinoma Of Rectum

Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type

Wilson-Turner Syndrome



X-Linked Intellectual Disability-Gynecomastia-Obesity Syndrome


Wilson-Turner X-Linked Mental Retardation Syndrome

Mental Retardation, X-Linked, Syndromic 6

Mental Retardation, X-Linked, With Gynecomastia And Obesity

Intellectual Disability, X-Linked, Syndromic 6

Intellectual Disability, X-Linked, With Gynecomastia And Obesity

Wilson Turner Intellectual Disability Syndrome

X-Linked Intellectual Disability - Gynecomastia - Obesity


Hypertrophy Of Bone

Bone Hypertrophy

Bone Thickening

Periosteum Thickening

Endosteal Hyperostosis, Autosomal Dominant


Worth Syndrome

Osteosclerosis, Autosomal Dominant

Hyperostosis, Endosteal

Endosteal Hyperostosis, Worth Type

Worth Disease

Autosomal Dominant Endosteal Hyperostosis

Autosomal Dominant Osteosclerosis, Worth Type

Hyperostosis Corticalis Generalisata, Benign Form Of Worth, With Torus Palatinus

Autosomal Dominant Osteosclerosis

Benign Form Of Worth Hyperostosis Corticalis Generalisata With Torus Platinus

Worth'S Syndrome

Worth Type Autosomal Dominant Osteosclerosis

Hyperostosis Corticalis Generalisata, Benign Form Of Worth With Torus Palatinus

Osteosclerosis, Autosomal Dominant, Worth Type


Endosteal Hyperostosis Autosomal Dominant

Hyperostosis Corticalis Generalisata Benign Form Of Worth With Torus Palatinus

Osteosclerosis Autosomal Dominant

Acquired Osteosclerosis

Mucinous Adenofibroma
Hereditary Wilms' Tumor

Hereditary Wilms Tumor

Hereditary Wilms Tumour

Hereditary Wilms' Tumour


Syndromic X-Linked Intellectual Disability

X-Linked Syndromic Intellectual Disability

Craniodiaphyseal Dysplasia


Schaefer Stein Oshman Syndrome

Craniodiaphyseal Dysplasia, Dominant

Dominantly Inherited Craniodiaphyseal Dysplasia

Denys-Drash Syndrome

Drash Syndrome


Nephropathy, Wilms Tumor, And Genital Anomalies

Wilms Tumor And Pseudohermaphroditism

Wilms Tumor And Pseudo- Or True Hermaphroditism

Nephropathy Associated With Male Pseudohermaphroditism And Wilms' Tumor

Pseudohermaphroditism, Nephron Disorder And Wilms' Tumor

Wilms Tumor-Dsd Syndrome

Wilms Tumor-Disorder Of Sex Development Syndrome

Perlman Syndrome

Nephroblastomatosis, Fetal Ascites, Macrosomia And Wilms Tumor


Renal Hamartomas, Nephroblastomatosis, And Fetal Gigantism

Nephroblastomatosis Fetal Ascites Macrosomia And Wilms Tumor

Nephroblastomatosis, Fetal Ascites, Macrosomia, And Wilms Tumor

Nephroblastomatosis - Fetal Ascites - Macrosomia - Wilms Tumor

Renal Hamartomas, Nephroblastomatosis And Fetal Gigantism

Nephroblastomatosis-Fetal Ascites-Macrosomia-Wilms Tumor Syndrome

Renal Hamartomas Nephroblastomatosis And Fetal Gigantism


Fetal Macrosomia

Wilms Tumor 1


Wilms Tumor


Wilms' Tumor

Bilateral Wilms Tumor

Wilms Tumor, Type 1

Wilms Tumor, Somatic

Adult Nephroblastoma

Wt1 Disorder

Renal Embryonic Tumor

Adult Kidney Wilms Tumor

Childhood Kidney Wilms Tumor

Nonanaplastic Kidney Wilms Tumor

Syndromic Intellectual Disability
Colon Adenocarcinoma

Adenocarcinoma Of Colon

Adenocarcinoma Of The Colon

Colonic Adenocarcinoma

Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome

Wagr Syndrome

11p Partial Monosomy Syndrome

Chromosome 11p13 Deletion Syndrome

Wilms Tumor, Aniridia, Genitourinary Anomalies And Mental Retardation Syndrome

11p Deletion Syndrome

Chromosome 11p Deletion Syndrome

Wagr Complex

Wilms Tumor-Aniridia-Genitourinary Anomalies-Intellectual Disability Syndrome

Deletion 11p13


Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation Syndrome

Chromosome 11p Deletion

11p Deletion

11p Monosomy

Deletion 11p

Monosomy 11p

Partial Monosomy 11p

Agr Triad

Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation Syndrome

Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation Syndrome

Wagr Contiguous Gene Syndrome

Wilms Tumor-Aniridia-Genital Anomalies-Retardation Syndrome

Wilms Tumor-Aniridia-Genitourinary Anomalies-Mr Syndrome


Monosomy 11p13

Chromosome 11, Deletion 11p

Aniridia 1


Congenital Aniridia



Cataract With Late-Onset Corneal Dystrophy

Aplasia Of Iris

Absent Iris


Aniridia Ii, Formerly

An2, Formerly


Aniridia Type Ii

Aniridia, Type 1


Absence Of Iris

Agenesis Of Iris

Congenital Absence Of Iris

Hereditary Aniridia

Sporadic Aniridia

Beckwith-Wiedemann Syndrome

Wiedemann-Beckwith Syndrome


Exomphalos-Macroglossia-Gigantism Syndrome

Emg Syndrome

Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation

Emg Abnormality


Exomphalos Macroglossia Gigantism Syndrome

Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation

Macroglossia Exomphalos Gigantism

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


种属 基因名 来源 基因 ID
Mus musculus AMER1 MGD MGI:1919595
Rattus norvegicus AMER1 RGD RGD:1560322
Macaca mulatta AMER1 VGNC VGNC:69716
Canis familiaris AMER1 VGNC VGNC:37828
Felis catus AMER1 VGNC VGNC:82394
Bos taurus AMER1 VGNC VGNC:25861