FAT2 - FAT atypical cadherin 2 Gene

Also Known as CDHF8; CDHR9; HFAT2; MEGF1; SCA45

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2196

About 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.

Summary

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 Products (1)

mRNA	Protein	Name
NM_001447.3	NP_001438.1	protocadherin Fat 2 precursor

Gene Ontology

Biological Process
Cellular Component

Biological Process GO Annotation	Evidence	References	Source
involved in cell-substrate adhesion	IDA IDA: Inferred from direct assay	29053796	GOA
involved in epithelial cell migration	IDA IDA: Inferred from direct assay	29053796	GOA
involved in epithelial cell migration	IMP IMP: Inferred from mutant phenotype	17900869	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in adherens junction	IDA IDA: Inferred from direct assay	17900869	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

FAT2 Protein Structure

Cadherin

Laminin_G_2

0
700
1400
2100
2800
3500
4349 a.a.

Protein Preferred Names	Protein Names
protocadherin Fat 2	FAT tumor suppressor homolog 2

Related Diseases

Diseases	Alias
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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-Y0781S1	Pyruvic acid-13C		98.71%	Unkown
HY-Y0781S5	Pyruvic acid-13C,d4		99.80%	Unkown
HY-Y0781S3	Pyruvic acid-1-13C-2 sodium		99%	Unkown
HY-RS04761	FAT2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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