FRMD4A - FERM domain containing 4A Gene

Homo sapiens

Also known as FRMD4; CCAFCA; bA295P9.4

Gene ID: 55691 | Gene type: protein coding

About FRMD4A

Cytogenetic location: 10p13 Genomic coordinates (GRCh38): 10:13,643,706-14,330,924 (from NCBI)

This gene has 21 transcripts (splice variants), 211 orthologues, 6 paralogues and is associated with 2 phenotypes. Ubiquitous expression in fat (RPKM 10.5), skin (RPKM 7.3) and 25 other tissues.

Summary

This gene encodes a FERM domain-containing protein that regulates epithelial cell polarity. It connects ADP ribosylation factor 6 (ARF6) with the Par protein complex, which regulates the remodeling of adherens junctions and linear actin cable formation during epithelial cell polarization. Polymorphisms in this gene are associated with Alzheimer's disease, and also with nicotine dependence. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

FRMD4A Products(4)

mRNA	Protein	Name
NM_001318336.2	NP_001305265.1	FERM domain-containing protein 4A isoform b
NM_001318337.2	NP_001305266.1	FERM domain-containing protein 4A isoform c
NM_001318338.2	NP_001305267.1	FERM domain-containing protein 4A isoform d
NM_018027.5	NP_060497.3	FERM domain-containing protein 4A isoform a

FRMD4A Protein Structure

FERM_N

FERM_M

FERM_C

DUF3338

0
200
400
600
800
1039 a.a.

Protein Preferred Names

Protein Names

FERM domain-containing protein 4A

FERM domain containing 4

Related Diseases

Diseases

Alias

Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia

Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome	CCAFCA
Birk-Flusser Syndrome	Agenesis Of The Corpus Callosum, With Facial Anomalies And Cerebellar Ataxia

Kohlschutter-Tonz Syndrome

Amelocerebrohypohidrotic Syndrome	KTZS
Epilepsy And Yellow Teeth	Kohlschutter Tonz Syndrome
Kohlschutter Syndrome	Epilepsy Dementia Amelogenesis Imperfecta
Epilepsy-Dementia-Amelogenesis Imperfecta Syndrome	Epilepsy, Dementia, And Amelogenesis Imperfecta
Kohlschutter'S Syndrome	Kohlschütter-Tönz Syndrome
Kohlschuetter-Toenz Syndrome	Presenile Dementia
Dementia

Developmental And Epileptic Encephalopathy 66

DEE66	Epileptic Encephalopathy, Early Infantile, 66
Eiee66	Developmental And Epileptic Encephalopathy, 66
Early Infantile Epileptic Encephalopathy 66	Encephalopathy, Epileptic, Early Infantile, Type 66

Arrhythmogenic Right Ventricular Dysplasia, Familial, 1

Arrhythmogenic Right Ventricular Dysplasia 1	Uhl Anomaly
Arrhythmogenic Right Ventricular Cardiomyopathy 1	Arvc1
ARVD1	Cardiomyopathy Right Ventricular Dilated
Dysplasia, Arrhythmogenic Right Ventricular, Type 1

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Arrhythmogenic Right Ventricular Cardiomyopathy

Arrhythmogenic Right Ventricular Dysplasia	Arvc
Arvd	Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy
Arvc Cardiomyopathy	Arrhythmogenic Right Ventricular Cardiomyopathy-Dysplasia
Arvd/C	Right Ventricular Dysplasia, Arrhythmogenic
Ventricular Dysplasia, Right, Arrhythmogenic	Cardiomyopathy, Ventricular, Right, Arrhythmogenic
Dysplasia, Arrhythmogenic Right Ventricular

Strabismus

Strabismus, Susceptibility To	Strabismus, Susceptibility To, 1
Strabismus 1

Tobacco Addiction

Nicotine Dependence	Tobacco Addiction, Susceptibility To
Nicotine Addiction	Tobacco Use Disorder
Smoking Habit	Nicotine Dependence, Protection Against
Nicotine Addiction, Protection From	Cigarette Habituation
Cigarette Habituation, Susceptibility To	Smoking Habit, Susceptibility To
Nicotine Dependence, Susceptibility To	Nicotine Addiction, Susceptibility To
Addiction, Tobacco, Susceptibility To	Compulsive Tobacco User Syndrome
Tobacco Dependence	Tobacco Dependence Syndrome
Cigarette Addiction	Cigarette Dependence
Smoking Addiction	Smokers Syndrome

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05101	FRMD4A Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	FRMD4A	MGD	MGI:1919850
Felis catus	FRMD4A	VGNC	VGNC:62360
Macaca mulatta	FRMD4A	VGNC	VGNC:72786
Bos taurus	FRMD4A	VGNC	VGNC:29114
Canis familiaris	FRMD4A	VGNC	VGNC:40980
Rattus norvegicus	FRMD4A	RGD	RGD:1309050

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