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FAT4 - FAT atypical cadherin 4 Gene

Also Known as FATJ; FAT-J; CDHF14; CDHR11; HKLLS2; VMLDS2; NBLA00548

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 79633

About FAT4

Cytogenetic location: 4q28.1 Genomic coordinates (GRCh38): 4:125,314,955-125,492,932 (from NCBI)

This gene has 5 transcripts (splice variants), 223 orthologues, 6 paralogues and is associated with 136 phenotypes. Ubiquitous expression in gall bladder (RPKM 2.8), ovary (RPKM 2.6) and 23 other tissues.

Summary

The protein encoded by this gene is a member of the protocadherin family. This gene may play a role in regulating planar cell polarity (PCP). Studies in mice suggest that loss of PCP signaling may cause cystic kidney disease, and mutations in this gene have been associated with Van Maldergem Syndrome 2. Alternatively spliced transcript variants have been noted for this gene. [provided by RefSeq, Mar 2014]

FAT4 Products (3)

mRNA	Protein	Name
NM_001291285.3	NP_001278214.1	protocadherin Fat 4 isoform 2 precursor
NM_001291303.3	NP_001278232.1	protocadherin Fat 4 isoform 1 precursor
NM_024582.6	NP_078858.4	protocadherin Fat 4 isoform 3 precursor

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Verweise	Source
enables protein binding	IPI IPI: Inferred from physical interaction	22153077	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

FAT4 Protein Structure

Cadherin

EGF_CA

Laminin_G_2

0
800
1600
2400
3200
4000
4800
4981 a.a.

Protein Preferred Names	Protein Names
protocadherin Fat 4	FAT tumor suppressor homolog 4

Related Diseases

Diseases	Alias
Van Maldergem Syndrome 2	VMLDS2
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	HKLLS2
Van Maldergem Syndrome 1	Cerebrofacioarticular Syndrome VMLDS1 Van Maldergem Syndrome Cerebro-Facio-Articular Syndrome Van Maldergem Wetzburger Verloes Syndrome
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
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
Cakut	Renal Or Urinary Tract Malformation Congenital Anomalies Of Kidney And Urinary Tract Congenital Anomaly Of Kidney And Urinary Tract Congenital Anomalies Of The Kidney And Urinary Tract Kidney And Urinary Tract, Anomalies, Congenital Renal Hypodysplasia, Nonsyndromic, 1
Renal Hypoplasia
Periventricular Nodular Heterotopia	Periventricular Heterotopia Pvnh Familial Nodular Heterotopia Heterotopia, Periventricular Periventricular Heterotopia, X-Linked
Cystic Kidney Disease	Renal Cyst Simple Renal Cyst Kidney Cysts Kidney Diseases, Cystic Renal Cysts Kidney Cyst Cystic Kidney Congenital Cystic Kidney Disease Cystic Kidney Diseases Bosniak 1 Cyst
Liposarcoma Of Bone	Liposarcoma Of The Bone
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Kallmann Syndrome 2 Kal2 HH2 Hypogonadism, Hypogonadotropic, Type 2 With/Without Anosmia
Spinocerebellar Ataxia 45	SCA45 Spinocerebellar Ataxia Type 45
Colorectal Cancer	Colon Cancer Colorectal Carcinoma Colon Carcinoma Colorectal Cancer, Susceptibility To Carcinoma Of Colon CRC 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
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder

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 (3)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS04763	FAT4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21340	Fat4 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27859	Fat4 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	FAT4	VGNC	VGNC:78492
Bos taurus	FAT4	VGNC	VGNC:28877
Macaca mulatta	FAT4	VGNC	VGNC:72552
Mus musculus	FAT4	MGD	MGI:3045256
Rattus norvegicus	FAT4	RGD	RGD:1564291
Canis familiaris	FAT4	VGNC	VGNC:40745
Others	FAT4	NCBI