2. Gene
  3. APC2 - APC regulator of WNT signaling pathway 2 Gene

APC2 - APC regulator of WNT signaling pathway 2 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：WNT 信号通路 2 的 APC 调节器

种属: Homo sapiens

同用名: APCL; MRT74

基因 ID: 10297 | 基因类型: protein coding

关于 APC2

Cytogenetic location: 19p13.3 Genomic coordinates (GRCh38): 19:1,446,230-1,473,244 (from NCBI)

This gene has 8 transcripts (splice variants), 195 orthologues, 1 paralogue and is associated with 4 phenotypes. Biased expression in brain (RPKM 24.7) and adrenal (RPKM 1.1).

功能概要

该基因编码一种高度保守的蛋白质，该蛋白质具有一个 N 末端卷曲螺旋结构域，后跟一个犰狳结构域、五个 20 氨基酸重复序列和两个 SAMP 结构域。这种蛋白质促进多蛋白复合物的组装，该复合物募集和磷酸化 Wnt 效应子 β-连环蛋白，并靶向 β-连环蛋白以进行泛素化和蛋白酶体降解。因此，该蛋白质在降低 β-连环蛋白的细胞质水平方面发挥作用，进而降低 Wnt 靶基因的激活，而 Wnt 靶基因在各种人类癌症的发病机制中起着关键作用。该基因编码的蛋白质与腺瘤性结肠息肉病 (APC) 抑癌蛋白密切相关，具有相似的抑癌作用。该基因还通过与细胞骨架蛋白的相互作用在肌动蛋白组装、细胞间粘附和微管网络形成中发挥作用。该基因在中枢神经系统中表达最高，并通过神经元细胞骨架调节参与大脑发育。可变剪接产生编码不同亚型的多个转录变体。[RefSeq 提供，2017 年 5 月]

This gene encodes a strongly conserved protein that has an N-terminal coiled-coil domain followed by an armadillo domain, five 20-amino acid repeats, and two SAMP domains. This protein promotes the assembly of a multiprotein complex that recruits and phosphorylates the Wnt effector beta-catenin and targets beta-catenin for ubiquitylation and proteasomal degradation. This protein therefore plays a role in the reduction of cytoplasmic levels of beta-catenin which in turn reduces activation of Wnt target genes that play a pivotal role in the pathogenesis of various human cancers. The protein encoded by this gene is closely related to the adenomatous polyposis coli (APC) tumor-suppressor protein and has similar tumor-suppressor effects. This gene also plays a role in actin assembly, cell-cell adhesion, and microtubule network formation through its interaction with cytoskeletal proteins. This gene has its highest expression in the central nervous system and is involved in brain development through cytoskeletal regulation in neurons. Alternative splicing produces multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2017]

APC2 基因产物(2)

mRNA Protein Name
NM_001351273.1 NP_001338202.1 adenomatous polyposis coli protein 2 isoform 2
NM_005883.3 NP_005874.1 adenomatous polyposis coli protein 2 isoform 1

APC2 蛋白结构

Suppressor_APC

Suppressor_APC: Adenomatous polyposis coli tumour suppressor protein (124 - 205)

Arm

Arm: Armadillo/beta-catenin-like repeat (616 - 654)

APC_r

APC_r: APC repeat (1054 - 1077)

APC_r

APC_r: APC repeat (1146 - 1168)

APC_r

APC_r: APC repeat (1258 - 1281)

SAMP

SAMP: SAMP Motif (1337 - 1357)

APC_r

APC_r: APC repeat (1385 - 1410)

SAMP

SAMP: SAMP Motif (1626 - 1643)

APC_basic

APC_basic: APC basic domain (1786 - 2123)

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 2000
  • 2303 a.a.
蛋白主名 其他名称

adenomatous polyposis coli protein 2

APC2, WNT signaling pathway regulator

关联疾病

疾病名称 别名
Cortical Dysplasia, Complex, With Other Brain Malformations 10

CDCBM10
Intellectual Developmental Disorder, Autosomal Recessive 74

MRT74

Sotos Syndrome 3, Formerly

Sotos3, Formerly

Autosomal Recessive Intellectual Developmental Disorder 74

Sotos3

Sotos Syndrome 3
Sotos Syndrome 3

Sotos3

Sotos Syndrome, Type 3
Sotos Syndrome

Cerebral Gigantism

SOTOS

Chromosome 5q35 Deletion Syndrome

Sotos Syndrome 1, Formerly

Sotos1, Formerly

Distinctive Facial Appearance, Overgrowth In Childhood, And Learning Disabilities Or Delayed Development

Sotos Sequence

Sotos' Syndrome

Sotos1

Sotos Syndrome 1
Tracheoesophageal Fistula With Or Without Esophageal Atresia

Esophageal Atresia With Or Without Tracheoesophageal Fistula

Esophageal Atresia
Esophageal Atresia

Tracheoesophageal Fistula

Congenital Atresia Of Esophagus

Congenital Imperforate Esophagus

Imperforate Esophagus

Oesophageal Atresia

Te Fistula

Tef

Tracheoesophageal Fistula With Or Without Esophageal Atresia
Penile Benign Neoplasm

Neoplasm Of Penis

Penile Tumor

Cancer Of Penis

Carcinoma Of Penis

Malignant Neoplasm Of Penis, Unspecified

Malignant Neoplasm Of Penis, Part Unspecified

Malignant Tumour Of Penis

Penile Cancer

Primary Malignant Neoplasm Of Penis

Malignant Neoplasm Of Skin Of Penis Nos
Paraphimosis
Male Reproductive Organ Benign Neoplasm
Lissencephaly

Pachygyria

Broad Gyri Of Cerebrum

Large Gyri Of Cerebrum

Macrogyria
Familial Adenomatous Polyposis

Adenomatous Polyposis Coli

Fap

Familial Polyposis Coli

Familial Multiple Polyposis Syndrome

Adenomatous Polyposis Of The Colon

Familial Intestinal Polyposis

Fpc

Familial Adenomatous Polyposis Of The Colon

Familial Multiple Polyposis

Familial Polyposis Of The Colon

Hereditary Polyposis Coli

Polyposis, Adenomatous Intestinal

Adenomatous Familial Polyposis

Adenomatous Familial Polyposis Syndrome

Myh-Associated Polyposis

Colorectal Adenomatous Polyposis

Adenomatous Polyposis, Familial

Mutyh-Associate Polyposis
Hemoglobin E Disease

Hemoglobin E

Hb-E Disease
Phimosis

Tight Foreskin

Tight Frenulum

Congenital Phimosis
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

相关产品

Pre-clinical Phase
生物活性分子 (3)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-103255 CFM-4 Inducer 98.85% 否
HY-153538 AP-C2 Inhibitor / 否
HY-RS00810 APC2 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus APC2 VGNC VGNC:26006
Felis catus APC2 VGNC VGNC:102000
Rattus norvegicus APC2 RGD RGD:1308256
Canis familiaris APC2 VGNC VGNC:54573
Macaca mulatta APC2 VGNC VGNC:69888
Mus musculus APC2 MGD MGI:1346052
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