FRMD4A - FERM domain containing 4A Gene

Also Known as FRMD4; CCAFCA; bA295P9.4

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 55691

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

Gene Ontology

  • Biological Process
  • Cellular Component
Biological Process GO Annotation Evidence References Source
involved in positive regulation of protein secretion IMP
IMP: Inferred from mutant phenotype
27044754 GOA
Cellular Component GO Annotation Evidence References Source
located in cytoplasm IMP
IMP: Inferred from mutant phenotype
27044754 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

FRMD4A Protein Structure

FERM_N

FERM_N: FERM N-terminal domain (24 - 103)

FERM_M

FERM_M: FERM central domain (109 - 221)

FERM_C

FERM_C: FERM C-terminal PH-like domain (225 - 326)

DUF3338

DUF3338: Domain of unknown function (DUF3338) (355 - 491)

  • 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

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS05101 FRMD4A Human Pre-designed siRNA Set A Pre-designed Set / 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
Others FRMD4A NCBI