FAT4 - FAT atypical cadherin 4 Gene

Homo sapiens

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

Gene ID: 79633 | Gene type: protein coding

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	Reference	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
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

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-N12851	4-OHE	Inhibitor	≥95.0%	Unkown
HY-RS04763	FAT4 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

Name
Email *

	Sorry, but the email address you supplied was invalid.