Aliases &
Descriptions
for TBC1D24 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase)
About This Section
|
| Aliases & Descriptions |
|---|
| TBC1 domain family, member 241 2 | | KIAA11711 2 3 5 | | TBC1 domain family member 242 | | MGC1028852 |
Export aliases for TBC1D24 gene to outside databases |
Summaries
for TBC1D24 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
UniProtKB/Swiss-Prot: TBC24_HUMAN, Q9ULP9Function: May act as a GTPase-activating protein for Rab family protein(s)
|
Genomic Views
for TBC1D24 gene
(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 60),
Regulatory elements and Epigenetics data according to
Qiagen and/or
SABiosciences)
About This Section
|
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the TBC1D24 gene promoter:
SREBP-1a SREBP-1c SREBP-1b CUTL1 ER-alpha PPAR-gamma2 PPAR-gamma1 RelA NF-kappaB1 NF-kappaB
Other transcription factors
Search SABiosciences Chromatin IP Primers for TBC1D24
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for 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: 16p13.3TBC1D24 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc gene densities for chromosome 16 GeneLoc Exon Structure GeneLoc location for GC16P002487: view genomic region
(about GC identifiers)
Start:
|
2,472,128 bp from pter |
End:
|
2,479,596 bp from pter |
Size:
|
7,469 bases |
Orientation:
|
plus strand |
1 alternative location:
| Chr16+ 2,525,147-2,553,486 |
RefSeq DNA sequence:- NC_000016.9 NT_010393.16
|
Proteins
for TBC1D24 gene
(According to
1UniProtKB,
neXtProt,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
Millipore,
Sigma-Aldrich,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological, and/or
ProSpec,
Biochemical Assays by
Millipore,
Sigma-Aldrich,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Dec 2010 and
Entrez Gene,
Antibodies by
Millipore,
Sigma-Aldrich,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals, and/or
Epitomics)
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
Sequence caution: Sequence=BAA86485.1; Type=Erroneous initiation;
Secondary accessions: A0JNW3 Q2KJ08Alternative splicing: 2 isoforms: Q9ULP9-1 Q9ULP9-2 Explore the universe of human proteins at neXtProt for TBC1D24: NX_Q9ULP9
Post-translational modifications:
View phosphorylation sites using PhosphoSite2
REFSEQ proteins (2 alternative transcripts):
NP_001186036.1 NP_065756.1
ENSEMBL proteins: ENSP00000411420 ENSP00000293970 ENSP00000390106
Human Recombinant Proteins
2 Gene Ontology (GO) cellular component terms (GO ID links to tree view): About this table
TBC1D24 for ontologies About GeneDecksing
Antibodies for TBC1D24:
Assays for TBC1D24: |
Protein
Domains/
Families
for TBC1D24 gene(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:Graphical View of Domain Structure for InterPro Entry Q9ULP9ProtoNet protein and cluster: Q9ULP9 UniProtKB/Swiss-Prot: TBC24_HUMAN, Q9ULP9Similarity: Contains 1 Rab-GAP TBC domainSimilarity: Contains 1 TLD domain |
Gene Function
for TBC1D24 gene
(According to UniProtKB,
IUBMB,and/or
Genatlas, Animal models from MGI Dec 24 2010,
shRNA from
OriGene,
Sigma-Aldrich,
RNAi from
Millipore,
siRNAs from
Sigma-Aldrich,
OriGene,
Qiagen,
Super-pooled esiRNAs from Sigma-Aldrich,
microRNA from Sigma-Aldrich,
Qiagen,
SABiosciences,
Clones from Millipore,
Sigma-Aldrich,
OriGene,
GenScript,
Sino Biological,
Cell Lines from GenScript,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene.)
About This Section
|
UniProtKB/Swiss-Prot: TBC24_HUMAN, Q9ULP9Function: May act as a GTPase-activating protein for Rab family protein(s)
3 Gene Ontology (GO) molecular function terms (GO ID links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005096 | GTPase activator activity |
IEA | -- | | GO:0005097 | Rab GTPase activator activity |
IEA | -- | | GO:0005515 | protein binding |
IPI | -- |
About this table
TBC1D24 for ontologies About GeneDecksing
|
Pathways & Interactions
for TBC1D24 gene
(Pathways according to
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
PCR Arrays from
SABiosciences,
Proteins Network according to
SABiosciences,
Sigma-Aldrich,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene).
About This Section
|
SABiosciences Custom Pathway-Focused PCR Arrays for TBC1D24
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TBC1D24
2 Gene Ontology (GO) biological process terms (GO ID links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0031175 | neuron projection development |
IMP | -- | | GO:0032313 | regulation of Rab GTPase activity |
IEA | -- |
About this table
TBC1D24 for ontologies About GeneDecksing
|
Drugs & Compounds
for TBC1D24 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
 Browse Tocris compounds for TBC1D24
|
Transcripts
for TBC1D24 gene(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 228 Homo sapiens; Dec 8 2010) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
Millipore,
siRNAs from
Sigma-Aldrich,
OriGene,
Qiagen,
Super-pooled esiRNAs from Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
microRNA from Sigma-Aldrich,
Qiagen,
SABiosciences,
Tagged/untagged cDNA clones from
OriGene,
Sigma-Aldrich,
GenScript,
Primers from
OriGene and/or
SABiosciences)
About This Section
|
REFSEQ mRNAs for TBC1D24 gene (2 alternative transcripts): NM_001199107.1 NM_020705.2 Additional cDNA sequence: AB032997.1 AB449911.1 AK074509.1 BC112389.1 BC127014.1 BC127015.1 BX648053.1 BX648283.1 CR624902.1 6 DOTS entries: DT.100883301 DT.75128753 DT.120680310 DT.92043110 DT.97822921 DT.435886 24/585 AceView cDNA sequences (see all 585): BG741416 BQ422810 AA356561 CA488146 CR603009 BU194635 Z40632 CR600796 CA413348 BX104573 BU501943 CD515476 AI479668 BM762016 H23615 CA487321 AA372116 CA867391 BM473665 BU931095 CN481759 AI393278 AA325444 CB215563
 highest scoring ESTs for TBC1D24:BM691874 BU164700 BU738540 H09496 N74056 AA325444 AA934774 AB032997 AI479668 AI621269 Unigene Cluster for TBC1D24: TBC1 domain family, member 24 Hs.353087 [show with all ESTs]Unigene Representative Sequence: BX648283
GeneLoc Exon Structure
3 Alternative Splicing Database (ASD) splice patterns (SP) for TBC1D24
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7a | · | 7b |
|---|
|
| SP1: | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | |
About this scheme
ECgene alternative splicing isoforms for TBC1D24
3 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000415175 ENST00000293970(uc002cqk.2 uc002cql.2 uc010bsm.2 uc002cqm.2)
ENST00000434757
|
Expression
for TBC1D24 gene
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 228 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Primers from
OriGene and/or
SABiosciences
)
About This Section
| TBC1D24 expression in normal and diseased human tissues
1 / 2 / 3 7 probe-sets matching TBC1D24 gene
Affymetrix
probe-set |
Array |
GeneAnnot data |
GeneNote data |
GeneTide data |
| # genes |
Sensitivity |
Specificity |
Correlation |
Length |
Gb_Accession |
Consensus |
Uniqueness |
Score |
Rank |
| 52683_at2, 3
|
U95-B |
1 |
0.81 |
1.00 |
0.66 |
0.64 |
N74056 |
0.60 |
1.00 |
0.82 |
1 |
| 83926_at2, 3
|
U95-E |
1 |
0.31 |
1.00 |
0.83 |
1.27 |
AI375672 |
0.40 |
0.67 |
0.55 |
1 |
| 59372_at2, 3
|
U95-B |
1 |
0.31 |
1.00 |
0.95 |
1.10 |
AI885798 |
0.60 |
0.78 |
0.69 |
1 |
| 227632_at2, 3
|
U133-B |
1 |
0.82 |
1.00 |
-- |
-- |
N74056 |
0.60 |
1.00 |
0.82 |
1 |
| 227908_at2, 3
|
U133-B |
1 |
0.36 |
1.00 |
-- |
-- |
BG236006 |
0.40 |
0.67 |
0.55 |
1 |
| 227632_at2
|
U133Plus2 |
1 |
0.82 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
| 227908_at2
|
U133Plus2 |
1 |
0.36 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
About this table
TBC1D24 for expression About GeneDecksing
Data from
Genenote
(Publications) and GNF BioGPS
About these images
About these images
CGAP SAGE TAG: --
SOURCE GeneReport for Unigene cluster: Hs.353087
SABiosciences Custom PCR Arrays for TBC1D24
|
Orthologs
for TBC1D24 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Dec 24 2010,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for TBC1D24 gene from 5/11 species (see all 11)
About this table Species with no ortholog for TBC1D24
ENSEMBL Gene Tree for TBC1D24 (if available) |
Paralogs
for TBC1D24 gene(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section
| -- |
Genomic Variants
for TBC1D24 gene(SNPs according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Chr 16 pos | Sequence | Recs | AA
Chg | Type | More | Recs | Allele
freq | Pop | Total
sample | More |
|---|
About this tableHapMap Linkage Disequilibrium images for TBC1D24 (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 4 variations for TBC1D24
4 CNVs: 72426 4918 3988 5329 | | QIAGEN SeqTarget long-range PCR primers for resequencing TBC1D24 |
|
Disorders & Mutations
for TBC1D24 gene
(in which this Gene is Involved, According to
OMIM, UniProtKB,
PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
LSDB, HGMD, GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
TBC1D24 for disorders About GeneDecksing
OMIM: 613577
Export disorders and mutations for TBC1D24 gene to outside databases
|
Medical News
for TBC1D24 gene(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications
for TBC1D24 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6UniProtKB/TrEMBL, and/or
7Novoseek)
About This Section
|
8 PubMed articles for TBC1D24 gene integrated from 7 sources:
(articles sorted by number of sources associating them with TBC1D24)- 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 Corbett M.A....Gecz J. (2010 Sep 10)
- TBC1D24, an ARF6-interacting protein, is mutated in f amilial infantile myoclonic epilepsy. (PubMed id 20727515)1 Falace A....Zara F. (2010 Sep 10)
- Lysine acetylation targets protein complexes and co-regulates major cellular functions. (PubMed id 19608861)2 Choudhary C.... Mann M. (2009)
- 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)
- 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)
- Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PubMed id 12168954)2 Nakajima D.... Nagase T. (2002)
|
External Searches for TBC1D24 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing TBC1D24 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing TBC1D24 gene
(According to HUGE)
About This Section
| |
Specialized Databases showing TBC1D24 gene(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
|
About This Section
| 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
|
Products
for TBC1D24 gene(Antibodies, recombinant proteins, and assays by Millipore, Sigma-Aldrich, R&D Systems, Qiagen, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Epitomics, ProSpec, Uscn,
Clones available from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, PCR Arrays from SABiosciences, Drugs and/or compounds by Sigma-Aldrich, Tocris Bioscience, and/or
Enzo Life Sciences)
About This Section
|
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| |  | Search Tocris compounds for TBC1D24 |
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