FAT2 - FAT atypical cadherin 2 Gene

Homo sapiens

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

Gene ID: 2196 | Gene type: protein coding

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	Reference	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	Reference	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

Bioactive Molecules (4)

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

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