TBC1D24 - TBC1 domain family member 24 Gene

Homo sapiens

Also known as FIME; DEE16; DOORS; TLDC6; DFNA65; DFNB86; EIEE16; EPRPDC

Gene ID: 57465 | Gene type: protein coding

About TBC1D24

Cytogenetic location: 16p13.3 Genomic coordinates (GRCh38): 16:2,475,127-2,505,730 (from NCBI)

This gene has 10 transcripts (splice variants), 204 orthologues and is associated with 16 phenotypes. Ubiquitous expression in brain (RPKM 4.4), kidney (RPKM 3.5) and 25 other tissues.

Summary

This gene encodes a protein with a conserved domain, referred to as the TBC domain, characteristic of proteins which interact with GTPases. TBC domain proteins may serve as GTPase-activating proteins for a particular group of GTPases, the Rab (Ras-related proteins in brain) small GTPases which are involved in the regulation of membrane trafficking. Mutations in this gene are associated with familial infantile myoclonic epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2011]

TBC1D24 Products(2)

mRNA	Protein	Name
NM_001199107.2	NP_001186036.1	TBC1 domain family member 24 isoform 1
NM_020705.3	NP_065756.1	TBC1 domain family member 24 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	20727515	GOA

Biological Process GO Annotation	Evidence	Reference	Source
acts upstream of or within cellular response to oxidative stress	IDA IDA: Inferred from direct assay	30335140	GOA
acts upstream of or within neuron projection development	IDA IDA: Inferred from direct assay	30335140	GOA
involved in neuron projection development	IMP IMP: Inferred from mutant phenotype	20727515	GOA
NOT involved in regulation of cilium assembly	IMP IMP: Inferred from mutant phenotype	17646400	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	20727515	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

TBC1D24 Protein Structure

RabGAP-TBC

TLD

0
100
200
300
400
500
559 a.a.

Protein Preferred Names

Protein Names

TBC1 domain family member 24

TBC/LysM-associated domain containing 6

Related Diseases

Diseases

Alias

Developmental And Epileptic Encephalopathy 16

DEE16	Epileptic Encephalopathy, Early Infantile, 16
Eiee16	Developmental And Epileptic Encephalopathy, 16
Early Infantile Epileptic Encephalopathy 16	Progressive Myoclonic Epilepsy With Dystonia
Pmed	Progressive Myoclonus Epilepsy With Dystonia
Encephalopathy, Epileptic, Early Infantile, Type 16

Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome

Door Syndrome	Doors Syndrome
Digitorenocerebral Syndrome	Autosomal Recessive Deafness-Onychodystrophy Syndrome
Deafness-Onychoosteodystrophy-Intellectual Disability Syndrome	DOORS
Drc Syndrome	Eronen Syndrome
Deafness-Onychodystrophy-Osteodystrophy-Intellectual Disability Syndrome	Brachydactyly Due To Absence Of Distal Phalanges
Deafness-Onychodystrophy-Osteodystrophy-Intellectual Disability-Seizures Syndrome	Deafness, Onychodystrophy, Osteodystrophy, And Mental Retardation Syndrome
Deafness-Oncychodystrophy-Osteodystrophy-Intellectual Disability Syndrome	Autosomal Recessive Hearing Loss-Onychodystrophy Syndrome
Hearing Loss-Onychodystrophy-Osteodystrophy-Intellectual Disability Syndrome	Hearing Loss-Onychodystrophy-Osteodystrophy-Intellectual Disability-Seizures Syndrome
Hearing Loss-Onychoosteodystrophy-Intellectual Disability Syndrome	Deafness, Onychodystrophy, Osteodystrophy, Intellectual Disability, And Seizures Syndrome
Deafness, Congenital Onychodystrophy, Recessive Form	Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation Syndrome

Myoclonic Epilepsy, Familial Infantile

Familial Infantile Myoclonic Epilepsy	FIME
Eim	Myoclonic Epilepsy, Infantile, Familial
Familial Infantile Myoclonus Epilepsy	Epilepsy, Myoclonic, Infantile, Familial
Epilepsy, Myoclonic, Infantile

Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp

Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer'S Cramp Syndrome	EPRPDC
Re-Ped-Wc	Epilepsy, Rolandic, With Proxysmal Exercise-Induce Dystonia And Writer'S Cramp
Epilepsy, Rolandic, With Paroxysmal Exercise-Induce Dystonia And Writer'S Cramp	Rolandic Epilepsy With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Rolandic-Type Focal Motor Epilepsy And Exercise-Induced Dystonia	Rolandic Epilepsy Exercise-Induced Dystonia
Epilepsy, Rolandic With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp

Deafness, Autosomal Recessive 86

DFNB86	Autosomal Recessive Nonsyndromic Deafness 86
Autosomal Recessive Deafness 86	Deafness, Autosomal Recessive, 86
Deafness, Nonsyndromic, Autosomal Recessive, Type 86

Deafness, Autosomal Dominant 65

DFNA65	Autosomal Dominant Nonsyndromic Deafness 65
Autosomal Dominant Deafness 65	Deafness, Autosomal Dominant, 65
Deafness, Autosomal Dominant, Type 65

Periodic Paralysis

Westphal Disease	Periodic Myotonia
Myoplegic Dystrophy	Familial Recurrent Paralysis
Familial Myoplegia	Cavare Disease
Cavarre Disease	Familial Paralysis
Familial Periodic Paralysis	Myotonic Periodic Paralysis

Focal Epilepsy-Intellectual Disability-Cerebro-Cerebellar Malformation

Focal Epilepsy-Intellectual Disability-Dysarthria-Ataxia Syndrome

Parkinsonism

Parkinsonism-Plus	Idiopathic Parkinsonism
Primary Parkinsonism	Paralysis Agitans Syndrome
Parkinsonian Syndrome	Trembling Paralysis
Paralysis Agitans	Shaking Palsy
Shaking Paralysis

Epilepsy, Progressive Myoclonic, 1b

EPM1B	Epilepsy, Progressive Myoclonic 1b
Prickle1-Related Progressive Myoclonus Epilepsy With Ataxia	Pme With Ataxia
Prickle1-Related Progressive Myoclonic Epilepsy With Ataxia	Progressive Myoclonic Epilepsy 1b
Progressive Myoclonus Epilepsy With Ataxia	Epilepsy, Progressive Myoclonic, Type 1b

Developmental And Epileptic Encephalopathy 1

Epileptic Encephalopathy, Early Infantile, 1	Infantile Epileptic-Dyskinetic Encephalopathy
DEE1	Eiee1
Issx1	Xmesid
X-Linked Infantile Spasm Syndrome 1	X-Linked Infantile Spasm Syndrome
X-Linked Spasticity-Intellectual Disability-Epilepsy Syndrome	Developmental And Epileptic Encephalopathy, 1
Infantile Epileptic Dyskinetic Encephalopathy	Infantile Spasm Syndrome, X-Linked 1
West Syndrome, X-Linked	Ohtahara Syndrome, X-Linked
Early Infantile Epileptic Encephalopathy 1	Early Infantile Epileptic Encephalopathy-1
Issx	X-Linked Ohtahara Syndrome
X-Linked West Syndrome	Infantile Spasm Syndrome X-Linked 1
Myoclonic Epilepsy X-Linked With Intellectual Disability And Spasticity	Ohtahara Syndrome X-Linked
West Syndrome X-Linked	Encephalopathy, Epileptic, Early Infantile, Type 1

West Syndrome

Infantile Spasms	Infantile Spasms Syndrome
Infantile Spasm	X-Linked Infantile Spasm Syndrome
X-Linked Infantile Spasms	Epileptic Encephalopathy, Early Infantile, 1
Is	Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg
West'S Syndrome	Spasms, Infantile
Is -[Infantile Spasm]	Salaam Spasm
Salaam Tic

Myoclonic Epilepsy Of Unverricht And Lundborg

Progressive Myoclonic Epilepsy	Uld
EPM1	Pme
Epm1a	Baltic Myoclonic Epilepsy
Progressive Myoclonic Epilepsy Type 1	Unverricht-Lundborg Disease
Familial Progressive Myoclonic Epilepsy	Epilepsy, Progressive Myoclonic 1
Epilepsy, Progressive Myoclonic, 1a	Epilepsy, Progressive Myoclonic, 1
Myoclonic Epilepsy, Progressive	Epilepsy, Progressive Myoclonic 1a
Progressive Myoclonus Epilepsy Type 1	Progressive Myoclonus Epilepsy
Epilepsy Progressive Myoclonic	Progressive Myoclonic Epilepsy 1
Progressive Myoclonic Epilepsy 1a	Progressive Myoclonic Epilepsy Unverricht-Lundborg Type
Epilepsy, Myoclonic, Progressive	Epilepsy, Myoclonic, Progressive, Type 1a
Unverricht-Lundborg Syndrome	Myoclonic Epilepsies, Progressive

Benign Epilepsy With Centrotemporal Spikes

Rolandic Epilepsy	Benign Rolandic Epilepsy
Epilepsy, Rolandic	Bcects
Benign Childhood Epilepsy With Centrotemporal Spike	Sylvan Seizures
Becrs	Bects
Bre	Benign Epilepsy Of Childhood With Centrotemporal Spikes
Benign Familial Epilepsy Of Childhood With Rolandic Spikes	Centrotemporal Epilepsy

Developmental And Epileptic Encephalopathy 14

Malignant Migrating Partial Seizures Of Infancy	Eiee14
Epilepsy Of Infancy With Migrating Focal Seizures	Mmpsi
DEE14	Epileptic Encephalopathy, Early Infantile, 14
Early Infantile Epileptic Encephalopathy 14	Malignant Migrating Partial Epilepsy Of Infancy
Migrating Partial Epilepsy Of Infancy	Migrating Partial Seizures Of Infancy
Mmpei	Mpei
Mpsi	Malignant Migrating Focal Seizures Of Infancy
Migrating Partial Seizures In Infancy	Developmental And Epileptic Encephalopathy, 14
Encephalopathy, Epileptic, Early Infantile, Type 14

Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna

Autosomal Dominant Isolated Neurosensory Deafness Type Dfna	Autosomal Dominant Isolated Neurosensory Hearing Loss Type Dfna
Autosomal Dominant Isolated Sensorineural Deafness Type Dfna	Autosomal Dominant Isolated Sensorineural Hearing Loss Type Dfna
Autosomal Dominant Non-Syndromic Neurosensory Deafness Type Dfna	Autosomal Dominant Non-Syndromic Neurosensory Hearing Loss Type Dfna
Autosomal Dominant Non-Syndromic Sensorineural Hearing Loss Type Dfna

Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb

Autosomal Recessive Isolated Neurosensory Deafness Type Dfnb	Autosomal Recessive Isolated Neurosensory Hearing Loss Type Dfnb
Autosomal Recessive Isolated Sensorineural Deafness Type Dfnb	Autosomal Recessive Isolated Sensorineural Hearing Loss Type Dfnb
Autosomal Recessive Non-Syndromic Neurosensory Deafness Type Dfnb	Autosomal Recessive Non-Syndromic Neurosensory Hearing Loss Type Dfnb
Autosomal Recessive Non-Syndromic Sensorineural Hearing Loss Type Dfnb

Movement Disease

Movement Disorders

Movement Disorder

Tbc1d24-Related Disorders

Specific Learning Disability

Specific Learning Difficulty

Specific Learning Disorder

Epilepsy

Epilepsy Syndrome	Epileptic Syndrome
Epilepsies	Symptomatic Epilepsies
Post Traumatic Epilepsy	Traumatic Epilepsy
Traumatic Epileptic	Epilepsy Due To Hippocampal Sclerosis
Epilepsy With Ammon'S Horn Sclerosis	Epilepsy Due To Cortical Dysplasia
Epilepsy Due To Neuronal Migration Disorders

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Nervous System Disease

Abnormality Of The Nervous System	Nervous System Diseases
Nervous System Disorder

Deafness, Autosomal Recessive 18a

Deafness, Autosomal Recessive 18	DFNB18A
Dfnb18	Autosomal Recessive Nonsyndromic Deafness 18a
Autosomal Recessive Deafness 18a	Deafness, Autosomal Recessive, 18a
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 18	Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 18
Deafness, Autosomal Recessive, Type 18a

Neonatal Period Electroclinical Syndrome

Dystonia

Dystonic Disease	Dystonic Disorder
Dystonia Disorders	Neuroleptic Dyskinesia

Deafness, Autosomal Recessive 111

DFNB111	Autosomal Recessive Nonsyndromic Deafness 111
Autosomal Recessive Deafness 111	Deafness, Autosomal Recessive, 111

Developmental And Epileptic Encephalopathy 80

DEE80	Glycosylphosphatidylinositol Biosynthesis Defect 20
Gpibd20	Epileptic Encephalopathy, Early Infantile, 80
Eiee80	Developmental And Epileptic Encephalopathy, 80
Early Infantile Epileptic Encephalopathy 80

Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic

Balanoposthitis

Balanitis Due To Infection

Early Myoclonic Encephalopathy

Myoclonic Epilepsy	Myoclonic Seizure
Epilepsies, Myoclonic	Epileptic Seizures - Myoclonic
Epileptic Seizures, Myoclonic	Myoclonia Epileptica
Myoclonic Seizure Disorder	Early Myoclonic Encephalopathy With Suppression-Bursts

Episodic Ataxia, Type 8

Episodic Ataxia Type 8	EA8
Episodic Ataxia With Slurred Speech

Epilepsy, Familial Adult Myoclonic, 3

FAME3	Fcmte3
Cortical Myoclonic Tremor With Epilepsy, Familial, 3	Familial Adult Myoclonic Epilepsy 3
Familial Cortical Myoclonic Tremor And Epilepsy 3	Epilepsy, Myoclonic, Familial Adult, Type 3

Alternating Hemiplegia Of Childhood

Alternating Hemiplegia	Ahc
Alternating Hemiplegia Syndrome	Hemiplegia, Alternating, Of Childhood
Hemiplegia, Crossed

Coffin-Siris Syndrome 1

Coffin-Siris Syndrome	Fifth Digit Syndrome
Css	CSS1
Mrd12	Mental Retardation, Autosomal Dominant 12
Hhid	Dwarfism-Onychodysplasia
Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features	Autosomal Dominant Mental Retardation 12
Short Stature-Onychodysplasia.	Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx
Mental Retardation With Hypoplastic Fifth Fingernails And Toenails	Short Stature-Onychodysplasia
Coffin-Siris Syndrome, Type 1	Mental Retardation, Autosomal Dominant, Type 12

Intracranial Abscess

Abscess Of Brain	Brain Empyema
Cranial Abscess	Intracerebral Abscess
Cerebral Abscess	Cerebral Embolic Abscess
Cerebral Pyogenic Abscess	Septic Brain Infection
Temporosphenoidal Abscess	Ventricular Empyema
Intracranial Suppuration	Intracranial Vein Sinus Abscess

Sensorineural Hearing Loss

Sensory Hearing Loss	Sensorineural Deafness
Sensorineural Hearing Loss Disorder	Hearing Loss, Sensorineural
Central Hearing Loss	High Frequency Deafness
High Frequency Hearing Loss	High-Frequency Hearing Loss
Perceptive Deafness	Perceptive Hearing Loss
Perceptive Hearing Loss Or Deafness	Hearing Loss Sensorineural
Deafness Sensorineural	Hearing Loss High-Frequency
Hearing Loss, Central	Hearing Loss, High-Frequency

Progressive Myoclonus Epilepsy

Pme	Progressive Myoclonic Epilepsy
Myoclonic Epilepsies, Progressive	Unverricht-Lundborg Syndrome

Familial Febrile Seizures

Familial Febrile Convulsions	Feb
Febrile Seizures, Familial

Martsolf Syndrome 1

Martsolf Syndrome	Cataract-Intellectual Disability-Hypogonadism Syndrome
MARTS1	Marts
Cataract-Mental Retardation-Hypogonadism	Martsolf

Benign Neonatal Seizures

Benign Neonatal Epilepsy	Benign Familial Neonatal Seizures
Benign Neonatal Convulsions	Benign Familial Neonatal Convulsions
Benign Familial Neonatal Epilepsy	Bfne
Bfns	Seizures, Benign Neonatal
Neonatal Convulsions Benign	Epilepsy, Benign Neonatal
Epilepsy, Benign Neonatal, 2	Benign Familial Convulsion
Familial Benign Neonatal Epilepsy

Early Infantile Epileptic Encephalopathy

Early Infantile Epileptic Encephalopathy With Burst-Suppression	Early Infantile Epileptic Encephalopathy With Suppression Bursts
Eiee	Early Infantile Epileptic Encephalopathy With Suppression-Bursts
Ohtahara Syndrome	Encephalopathy, Epileptic, Early Infantile

Autosomal Dominant Nonsyndromic Deafness

Autosomal Dominant Deafness

Dravet Syndrome

Severe Myoclonic Epilepsy Of Infancy	Severe Myoclonic Epilepsy In Infancy
Smei	Epileptic Encephalopathy, Early Infantile, 6
DRVT	Developmental And Epileptic Encephalopathy 6a
Dee6a	Eiee6
Developmental And Epileptic Encephalopathy, 6	Dee6
Developmental And Epileptic Encephalopathy 6	Early Infantile Epileptic Encephalopathy 6
Myoclonic Epilepsy, Severe, Of Infancy	Sme
Severe Myoclonus Epilepsy Of Infancy	Borderline Smei
Smeb	Smeb-M
Smeb-O	Smeb-Sw
Smei-Borderland	Smei-Borderland More Than One Feature
Smei-Borderland-Myoclonic Seizures	Smei-Borderland-Spike Wave
Intractable Childhood Epilepsy With Generalized Tonic-Clonic Seizures	ICEGTC
Infantile Severe Myoclonic Epilepsy	Epilepsy, Intractable Childhood, With Generalized Tonic-Clonic Seizures

Autosomal Recessive Nonsyndromic Deafness

Deafness, Autosomal Recessive, Nonsyndromic

Microcephaly

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

Lennox-Gastaut Syndrome

Lennox Syndrome	Encephalopathy Of Childhood
Epileptic Encephalopathy Lennox-Gastaut Type	Childhood Epileptic Encephalopathy With Diffuse Slow Spikes And Waves
Lgs

Chromosome 1p36 Deletion Syndrome

1p36 Deletion Syndrome	Deletion 1p36
Monosomy 1p36	Subtelomeric 1p36 Deletion
Monosomy 1p36 Syndrome	Distal Monosomy 1p36
Del(1)(P36)	Deletion 1pter
Monosomy 1pter

Childhood Absence Epilepsy

Pyknolepsy	Petit Mal Epilepsy
Absence Seizures	Absence Seizure
Petit Mal Seizure	Absence Epilepsy, Childhood
Pykno-Epilepsy	Epilepsy, Absence
Absence Epilepsy	Pycnolepsy

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14238	TBC1D24 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	TBC1D24	RGD	RGD:1306143
Felis catus	TBC1D24	VGNC	VGNC:107822
Mus musculus	TBC1D24	MGD	MGI:2443456