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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

TBC1D24 Gene

protein-coding GIFtS: 48
GCID: GC16P002526

TBC1 domain family, member 24

Explore 7 diseases affiliated with
TBC1D24 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
TBC1 Domain Family, Member 24¹ ²
KIAA1171¹ ³ ⁵
FIME² ⁵
TBC1 Domain Family Member 24²

External Ids:	HGNC: 29203¹	Entrez Gene: 57465²	Ensembl: ENSG00000162065⁷	OMIM: 613577⁵	UniProtKB: Q9ULP9³

Export aliases for TBC1D24 gene to outside databases

Previous GC identifer: GC16P002487

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for TBC1D24:

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)

UniProtKB/Swiss-Prot: TBC24_HUMAN, Q9ULP9

Function: May act as a GTPase-activating protein for Rab family protein(s). Involved in neuronal projections

development, probably through a negative modulation of ARF6 function

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000016.9 NC_018927.1 NT_010393.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the TBC1D24 gene promoter:
Elk-1 Pax-5 AP-4 Nkx2-5 Tal-1beta AREB6 CREB Zic1 HSF2 ITF-2
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search SABiosciences Chromatin IP Primers for TBC1D24

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TBC1D24

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16p13.3 Ensembl cytogenetic band: 16p13.3 HGNC cytogenetic band: 16p13.3

TBC1D24 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TBC1D24 gene location

GeneLoc information about chromosome 16 GeneLoc Exon Structure

GeneLoc location for GC16P002526: view genomic region (about GC identifiers)

Start:	2,525,147 bp from pter	End:	2,555,735 bp from pter
Size:	30,589 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: TBC24_HUMAN, Q9ULP9 (See protein sequence)

Recommended Name: TBC1 domain family member 24

Size: 559 amino acids; 62919 Da

Subunit: Interacts with ARF6

Subcellular location: Cytoplasm. Note=Partially expressed at the plasma membrane

Sequence caution: Sequence=BAA86485.1; Type=Erroneous initiation;

Secondary accessions: A0JNW3 Q2KJ08

Alternative splicing: 2 isoforms: Q9ULP9-1 Q9ULP9-2 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TBC1D24: NX_Q9ULP9

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9ULP9

TBC1D24 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001186036.1 NP_065756.1

ENSEMBL proteins:

ENSP00000454408 ENSP00000293970 ENSP00000457896 ENSP00000457266 ENSP00000455005

ENSP00000390106

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	Uscn Proteins for TBC1D24

Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	IDA	--

TBC1D24 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for TBC1D24

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

TBC1D24 for domains About GeneDecksing

2 InterPro domains/families:

IPR000195 Rab-GTPase-TBC_dom

IPR006571 TLDc

Graphical View of Domain Structure for InterPro Entry Q9ULP9

ProtoNet protein and cluster: Q9ULP9

UniProtKB/Swiss-Prot: TBC24_HUMAN, Q9ULP9

Similarity: Contains 1 Rab-GAP TBC domain

Similarity: Contains 1 TLD domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: TBC24_HUMAN, Q9ULP9

Function: May act as a GTPase-activating protein for Rab family protein(s). Involved in neuronal projections

development, probably through a negative modulation of ARF6 function

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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBC1D24

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005097	Rab GTPase activator activity	IEA	--
GO:0005515	protein binding	IPI	--

TBC1D24 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for TBC1D24:

Cell cycle / mitosis defect

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for TBC1D24

STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

2 Interacting proteins for TBC1D24 (Q9ULP9³ ENSP00000293970⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
TMCO1	Q9UM00³	I2D: score=1
UBC	ENSP00000344818⁴	STRING: ENSP00000344818

About this table

Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0031175	neuron projection development	IMP	--

TBC1D24 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for TBC1D24
Search CenterWatch for drugs/clinical trials and news about TBC1D24 / TBC24

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for TBC1D24 gene (2 alternative transcripts):

NM_001199107.1 NM_020705.2

Unigene Cluster for TBC1D24:

TBC1 domain family, member 24

Hs.353087 [show with all ESTs]

Unigene Representative Sequence: NM_001199107

7 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000567020(uc002cql.3 uc002cqk.3 uc010bsm.3) ENST00000293970

ENST00000566853 ENST00000562105 ENST00000564879 ENST00000569874 ENST00000434757

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Additional cDNA sequence:

AB032997.1 AB449911.1 AK074509.1 BC112389.1 BC127014.1 BC127015.1 BX648283.1

5 DOTS entries:

DT.100883301 DT.75128753 DT.120680310 DT.92043110 DT.435886

24/585 AceView cDNA sequences (see all 585):

BQ424541 BQ681490 AI887500 AI921335 BM452233 BU949685 BQ008755 BM708486

CR616464 F30715 BE466236 CA946383 CD367100 CA426172 BM479427 AI270767

CR597229 CB528900 NM_015944 BM843350 BQ939754 BM784555 CA419705 CR613683

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for TBC1D24 About this scheme

ExUns:	1	^	2	^	3	^	4	^	5	^	6a	·	6b	^	7a	·	7b
SP1:
SP2:
SP3:

ECgene alternative splicing isoforms for TBC1D24

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

TBC1D24 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

TBC1D24 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Neural Tube

Spinal Neural Tube Cells

Neural Ectoderm

Spinal Cord

Presumptive Spinal Cord

Spinal Cord

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See TBC1D24 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TBC1D24

SOURCE GeneReport for Unigene cluster: Hs.353087

UniProtKB/Swiss-Prot: TBC24_HUMAN, Q9ULP9

Tissue specificity: Highest expression in brain

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for TBC1D24 gene from 6/23 species (see all 23) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	TBC1D24¹	TBC1 domain family, member 24	75.64(n) 80.55(a)		100859828 XM_003642169.1 XP_003642217.1
lizard (Anolis carolinensis)	Reptilia	TBC1D24⁶	--	77(a)	1 → many	GL343621.1(288476-299117)
tropical clawed frog (Xenopus tropicalis)	Amphibia	Str.18563²	Transcribed sequences	75(n)		CF344049.1
zebrafish (Danio rerio)	Actinopterygii	LOC100536073¹	TBC1 domain family member 24-like	65.55(n) 63.45(a)		100536073 XM_003201361.1 XP_003201409.1
fruit fly (Drosophila melanogaster)	Insecta	sky¹	skywalker	48.43(n) 35.66(a)		35359 NM_165349.3 NP_724301.2
worm (Caenorhabditis elegans)	Secernentea	tbc-7¹	Protein TBC-7	41.04(n) 29.96(a)		180784 NM_171677.2 NP_741778.1

ENSEMBL Gene Tree for TBC1D24 (if available)
TreeFam Gene Tree for TBC1D24 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for TBC1D24 gene

ENSG00000260272²

1 SIMAP similar gene for TBC1D24 using alignment to 5 protein entries: TBC24_HUMAN (see all proteins):

OXR1

TBC1D24 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 16 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs115675162^1,2	F,	--	2524885(+)	`CCGGGC/TCCCCG`	2	--	us2k¹		1		WA	118
rs142164250^1,2		--	2525434(+)	`CGCCC-/GGTCGC`	2	--	int¹		0	--	--	--	--
rs183278271^1,2		--	2525519(+)	`CGTCTC/TCGCAG`	2	--	int¹		0	--	--	--	--
rs112329743^1,2	F,	--	2525541(+)	`CTCTTG/CGGGGC`	2	--	int¹		3		CSA WA	122
rs187810270^1,2		--	2525711(+)	`TGCGCC/TGTGCC`	2	--	int¹		0	--	--	--	--
rs193193020^1,2		--	2525970(+)	`CACCTA/GGGTGG`	2	--	int¹		0	--	--	--	--
rs35486279^1,2	C	--	2526119(+)	`TTTCCCT/-GTTTT`	2	--	int¹		1		NA	2
rs183415966^1,2		--	2526126(+)	`TTTTGC/TTGTGT`	2	--	int¹		0	--	--	--	--
rs140532977^1,2		--	2526267(+)	`GGCACA/CTGTAG`	2	--	int¹		0	--	--	--	--
rs77908793^1,2		--	2526282(+)	`CACACG/TTGGCG`	2	--	int¹		1		EA	120

HapMap Linkage Disequilibrium report for TBC1D24 (2525147 - 2555735 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 4 variations for TBC1D24
4 CNVs: 72426 4918 3988 5329
Human Gene Mutation Database (HGMD): TBC1D24

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TBC1D24

DNA2.0 Custom Variant and Variant Library Synthesis for TBC1D24

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

TBC1D24 for disorders           About GeneDecksing

OMIM gene information: 613577
OMIM disorders: 605021
UniProtKB/Swiss-Prot: TBC24_HUMAN, Q9ULP9

Defects in TBC1D24 are the cause of familial infantile myoclonic epilepsy (FIME) [MIM:605021]. A subtype of

idiopathic epilepsy starting in early infancy and manifesting as myoclonic seizures, febrile convulsions, and

tonic-clonic seizures

7 diseases for TBC1D24: About MalaCards

familial infantile myoclonic epilepsy febrile convulsions focal epilepsy intellectual disability

convulsions malaria neuronitis

1 disease from the University of Copenhagen DISEASES database for TBC1D24:

Focal epilepsy

Export disorders for TBC1D24 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for TBC1D24 gene, integrated from 9 sources (see all 11):
(articles sorted by number of sources associating them with TBC1D24)

Utopia: connect your pdf to the dynamic
world of online information

Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. (PubMed id 10574461)^{1, 2, 3} Hirosawa M.... Ohara O. (1999)
A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24. (PubMed id 20797691)^{1, 2} Corbett M.A....Gecz J. (2010)
TBC1D24, an ARF6-interacting protein, is mutated in f amilial infantile myoclonic epilepsy. (PubMed id 20727515)^{1, 2} Falace A....Zara F. (2010)
Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)¹ Kim W....Gygi S.P. (2011)
TBC proteins: GAPs for mammalian small GTPase Rab? (PubMed id 21250943)¹ Fukuda M. (2011)
A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)¹ Wagner S.A....Choudhary C. (2011)
Identification and characterization of a novel Tre-2/Bub2/Cdc16 (TBC) protein that possesses Rab3A-GAP activity. (PubMed id 19077034)¹ Ishibashi K.... Fukuda M. (2009)
Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)¹ Barbe L....Andersson-Svahn H. (2008)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)² Gerhard D.S....Malek J. (2004)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)¹ Strausberg R.L....Marra M.A. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 57465	HGNC: 29203	AceView: ATP6V0CandCGI-14andKIAA1171	Ensembl:ENSG00000162065	euGenes: HUgn57465
ECgene: TBC1D24	H-InvDB: TBC1D24

(According to HUGE)
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HUGE: KIAA1171

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for TBC1D24	Pharmacogenomics, SNPs, Pathways

Intellectual Property for TBC1D24 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for TBC1D24 gene:
Search GeneIP for patents involving TBC1D24

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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TBC1D24 Gene

TBC1 domain family, member 24

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TBC1D24 Gene

TBC1 domain family, member 24

Aliasesfor TBC1D24 gene

Summariesfor TBC1D24 gene

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Proteinsfor TBC1D24 gene

Protein Domains /Familiesfor TBC1D24 gene

Functionfor TBC1D24 gene

Pathways & Interactionsfor TBC1D24 gene

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Expression for TBC1D24 gene

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Genomic Variantsfor TBC1D24 gene

Disorders / Diseasesfor TBC1D24 gene

Publicationsfor TBC1D24 gene

External Searches for TBC1D24 gene

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for TBC1D24 gene

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for TBC1D24 gene

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for TBC1D24 gene

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for TBC1D24 gene

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for TBC1D24 gene

Drugs & Compounds
for TBC1D24 gene

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Expression
for TBC1D24 gene

Orthologs
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for TBC1D24 gene

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for TBC1D24 gene

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for TBC1D24 gene

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for TBC1D24 gene

Intellectual Property
for TBC1D24 gene

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for TBC1D24 gene