TBC1D24 - TBC1 domain family member 24 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 57465

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	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	20727515	GOA

Biological Process GO Annotation	Evidence	References	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	References	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

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-RS14238	TBC1D24 Human Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	TBC1D24	NCBI