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  2. FAT2 - FAT atypical cadherin 2 Gene

FAT2 - FAT atypical cadherin 2 Gene

中文名称:FAT 非典型钙粘蛋白 2

种属: Homo sapiens

同用名: CDHF8; CDHR9; HFAT2; MEGF1; SCA45

基因 ID: 2196 | 基因类型: protein coding

关于 FAT2

Cytogenetic location: 5q33.1 Genomic coordinates (GRCh38): 5:151,504,092-151,594,819 (from NCBI)

This gene has 2 transcripts (splice variants), 208 orthologues, 6 paralogues and is associated with 2 phenotypes. Biased expression in skin (RPKM 15.3), esophagus (RPKM 6.4) and 3 other tissues.

功能概要

该基因是果蝇脂肪基因的第二个确定的人类同系物,该基因编码一种肿瘤抑制基因,该基因在果蝇发育过程中控制细胞增殖必不可少。该基因产物是钙粘蛋白超家族的成员,钙粘蛋白超家族是一组完整的膜蛋白,其特征在于存在钙粘蛋白型重复序列。除了包含 34 个串联钙粘蛋白型重复序列外,该基因产物还有两个表皮生长因子 (EGF) 样重复序列和一个层粘连蛋白 G 结构域。这种蛋白质最有可能充当细胞粘附分子,控制细胞增殖并在小脑发育中发挥重要作用。[RefSeq 提供,2008 年 7 月]

This gene is the second identified human homolog of the Drosophila fat gene, which encodes a tumor suppressor essential for controlling cell proliferation during Drosophila development. The gene product is a member of the cadherin superfamily, a group of integral membrane proteins characterized by the presence of cadherin-type repeats. In addition to containing 34 tandem cadherin-type repeats, the gene product has two epidermal growth factor (EGF)-like repeats and one laminin G domain. This protein most likely functions as a cell adhesion molecule, controlling cell proliferation and playing an important role in cerebellum development. [provided by RefSeq, Jul 2008]

FAT2 基因产物(1)

mRNA Protein Name
NM_001447.3 NP_001438.1 protocadherin Fat 2 precursor
基因本体论
  • 生物过程
  • 细胞组分
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cell-substrate adhesion IDA
IDA: 通过直接分析推断
29053796 GOA
involved in epithelial cell migration IDA
IDA: 通过直接分析推断
29053796 GOA
involved in epithelial cell migration IMP
IMP: 通过突变表型推断
17900869 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in adherens junction IDA
IDA: 通过直接分析推断
17900869 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

FAT2 蛋白结构

Cadherin

Cadherin: Cadherin domain (153 - 228)

Cadherin

Cadherin: Cadherin domain (463 - 543)

Cadherin

Cadherin: Cadherin domain (571 - 658)

Cadherin

Cadherin: Cadherin domain (721 - 810)

Cadherin

Cadherin: Cadherin domain (825 - 915)

Cadherin

Cadherin: Cadherin domain (933 - 1018)

Cadherin

Cadherin: Cadherin domain (1038 - 1128)

Cadherin

Cadherin: Cadherin domain (1145 - 1232)

Cadherin

Cadherin: Cadherin domain (1251 - 1334)

Cadherin

Cadherin: Cadherin domain (1354 - 1433)

Cadherin

Cadherin: Cadherin domain (1453 - 1546)

Cadherin

Cadherin: Cadherin domain (1560 - 1650)

Cadherin

Cadherin: Cadherin domain (1665 - 1746)

Cadherin

Cadherin: Cadherin domain (1782 - 1858)

Cadherin

Cadherin: Cadherin domain (1977 - 2061)

Cadherin

Cadherin: Cadherin domain (2079 - 2163)

Cadherin

Cadherin: Cadherin domain (2176 - 2262)

Cadherin

Cadherin: Cadherin domain (2277 - 2369)

Cadherin

Cadherin: Cadherin domain (2384 - 2459)

Cadherin

Cadherin: Cadherin domain (2486 - 2573)

Cadherin

Cadherin: Cadherin domain (2590 - 2681)

Cadherin

Cadherin: Cadherin domain (2696 - 2787)

Cadherin

Cadherin: Cadherin domain (2802 - 2897)

Cadherin

Cadherin: Cadherin domain (2911 - 2997)

Cadherin

Cadherin: Cadherin domain (3016 - 3103)

Cadherin

Cadherin: Cadherin domain (3122 - 3208)

Cadherin

Cadherin: Cadherin domain (3224 - 3312)

Cadherin

Cadherin: Cadherin domain (3326 - 3416)

Cadherin

Cadherin: Cadherin domain (3431 - 3522)

Laminin_G_2

Laminin_G_2: Laminin G domain (3800 - 3920)

  • 0
  • 700
  • 1400
  • 2100
  • 2800
  • 3500
  • 4349 a.a.
蛋白主名 其他名称

protocadherin Fat 2

FAT tumor suppressor homolog 2

关联疾病

疾病名称 别名
Spinocerebellar Ataxia 45

SCA45

Spinocerebellar Ataxia Type 45

Spinocerebellar Ataxia 40

Spinocerebellar Ataxia Type 40

SCA40

Ataxia, Spinocerebellar, Type 40

Head And Neck Cancer

Head And Neck Neoplasm

Head And Neck Tumours

Head/Neck Neoplasm

Tumor Of Head And Neck

Head And Neck Neoplasms

Hnc

Cancer, Head/Neck

Spinocerebellar Ataxia, Autosomal Recessive 27

SCAR27

Autosomal Recessive Spinocerebellar Ataxia 27

Spinocerebellar Ataxia, Autosomal Recessive, 27

Skin Squamous Cell Carcinoma

Squamous Cell Carcinoma Of Skin

Epidermoid Skin Carcinoma

Squamous Cell Carcinoma Of The Skin

Squamous Cell Epithelioma Of Skin

Cutaneous Squamous Cell Carcinoma

Scc - [Squamous Cell Carcinoma] Of Skin

Spinocerebellar Ataxia, Autosomal Recessive 21

SCAR21

Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome

Spinocerebellar Ataxia, Autosomal Recessive 21, With Hepatopathy

Cholestasis, Low Ggt, Acute Liver Failure, And Neurodegeneration Syndrome

Calfan

Autosomal Recessive Spinocerebellar Ataxia 21

Autosomal Recessive Spinocerebellar Ataxia 21 With Hepatopathy

Autosomal Recessive Spinocerebellar Ataxia Type 21

Spinocerebellar Ataxia, Autosomal Recessive, 21

Calfan Syndrome

Stocco Dos Santos Type X-Linked Intellectual Disability

X-Linked Intellectual Disability, Stocco Dos Santos Type

Stocco Dos Santos Syndrome

Sdsx

Stocco Dos Santos X-Linked Mental Retardation Syndrome

Van Maldergem Syndrome

Van Maldergem Wetzburger Verloes Syndrome

Cerebro-Facio-Articular Syndrome

Cerebro-Facio-Articular Syndrome Of Van Maldergem

Cerebrofacioarticular Syndrome

Cerebro Facio Articular Syndrome

Van Maldergem-Wetzburger-Verloes Syndrome

Spinocerebellar Ataxia, Autosomal Recessive 24

SCAR24

Autosomal Recessive Spinocerebellar Ataxia 24

Spinocerebellar Ataxia, Autosomal Recessive, 24

Ataxia, Spinocerebellar, Autosomal Recessive, Type 24

Spinal Meningioma

Spinal Cord Meningioma

Meningioma, Spine

Meningioma

Meningioma, Benign, No Icd-O Subtype

Spinal Canal And Spinal Cord Meningioma
Esophageal Cancer

Esophageal Carcinoma

Carcinoma Of Esophagus

Esophageal Squamous Cell Carcinoma, Somatic

Esophageal Carcinoma, Somatic

Esophagus Cancer

Gastric Cardia Adenocarcinoma

Esophageal Neoplasms

Esophageal Cancer, Somatic

Cancer Of Esophagus

Cancer Of Oesophagus

Carcinoma Of Oesophagus

Ca Lower Third Oesophagus

Ca Middle Third Oesophagus

Malignant Neoplasm Of Distal Third Of Esophagus

Malignant Neoplasm Of Lower Third Of Oesophagus

Malignant Neoplasm Of Middle Third Of Oesophagus

Malignant Neoplasm Of Proximal Third Of Esophagus

Malignant Neoplasm Of Upper Third Esophagus

Malignant Tumor Of Abdominal Esophagus

Malignant Tumor Of Distal Third Of Esophagus

Malignant Tumor Of Proximal Third Of Esophagus

Malignant Tumor Of The Middle Third Of The Esophagus

ESCR

Aerodigestive Tract Cancer

Escc

Esophageal Squamous Cell Carcinoma

Cancer, Esophageal

Malignant Neoplasm Of Esophagus

Squamous Cell Carcinoma Of Esophagus

Malignant Neoplasm Of Middle Third Of Esophagus

Gastric Cancer

Stomach Cancer

Gastric Carcinoma

Stomach Carcinoma

Gastric Cancer, Somatic

Gastric Neoplasm

Carcinoma Of Stomach

Stomach Neoplasms

Malignant Neoplasm Of Stomach

Gastric Cancer Risk After H. Pylori Infection

Cancer Of The Stomach

Adult Stomach Cancer

Adult Stomach Carcinoma

GASC

Gastric Cancer Intestinal

Gastric Cancers

Gastric Carcinomas

Cancer, Gastric

Stomach Neoplasm

Malignant Neoplasm Of Body Of Stomach

Malignant Tumor Of Lesser Curve Of Stomach

Gastrocarcinoma Of Unspecified Site

Leather Bottle Stomach

Carcinoma Of Fundus Of Stomach

Cancer Of Fundus Of Stomach

Primary Malignant Neoplasm Of Body Of Stomach

Cancer Of Body Of Stomach

Primary Malignant Neoplasm Of Pyloric Antrum

Pyloric Antrum Cancer

Malignant Tumour Of Stomach

Hennekam Syndrome

Hennekam Lymphangiectasia Lymphedema Syndrome

Hennekam Lymphangiectasia-Lymphedema Syndrome

Lymphedema-Lymphangiectasia-Intellectual Disability Syndrome

Lymphedem-Lymphangiectasia-Intellectual Disability Syndrome

Intestinal Lymphagiectasia Lymphedema Intellectual Deficit Syndrome

Lymphangiectasies And Lymphedema Hennekam Type

Generalized Lymphatic Dysplasia

Intestinal Lymphagiectasia-Lymphedema-Mental Retardation Syndrome

Squamous Cell Carcinoma, Head And Neck

Squamous Cell Carcinoma Of The Head And Neck

HNSCC

Head And Neck Squamous Cell Carcinoma

Squamous Cell Carcinoma Of Lip

Squamous Cell Carcinoma, Head And Neck, Somatic

Carcinoma Of The Head And Neck

Squamous Cell Carcinomas Of Head And Neck

Scchn

Squamous Cell Carcinoma Of The Hypopharynx

Squamous Cell Carcinoma Of The Oropharynx

Squamous Cell Carcinoma Of Salivary Glands

Squamous Cell Carcinoma Of The Nasal Cavity And Paranasal Sinuses

Squamous Cell Carcinoma Of The Nasal Cavity And Sinuses

Squamous Cell Carcinoma Of The Oral Cavity

Squamous Cell Carcinoma Of The Lip

Carcinoma, Squamous Cell Of Head And Neck

Lip Squamous Cell Carcinoma

Carcinoma, Squamous Cell, Head And Neck

Salivary Gland Squamous Cell Carcinoma

Cancer Of Head And Neck

Squamous Cell Carcinoma Of Oropharynx Nos

Spastic Ataxia

Spax

Ataxia, Spastic

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
Felis catus FAT2 VGNC VGNC:62158
Rattus norvegicus FAT2 RGD RGD:620656
Mus musculus FAT2 MGD MGI:2685369
Bos taurus FAT2 VGNC VGNC:58375
Canis familiaris FAT2 VGNC VGNC:40743
Macaca mulatta FAT2 VGNC VGNC:72618
Others FAT2 NCBI