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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

TTC18 Gene

protein-coding GIFtS: 40
GCID: GC10M075013

tetratricopeptide repeat domain 18

Explore 1 disease affiliated with
TTC18 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
Tetratricopeptide Repeat Domain 18¹ ²
TPR Repeat Protein 18² ³
FLJ25765¹
Tetratricopeptide Repeat Protein 18²
Tetratricopeptide Repeat-Containing Protein (LOC118491)²

External Ids:	HGNC: 30726¹	Entrez Gene: 118491²	Ensembl: ENSG00000156042⁷	UniProtKB: Q5T0N1³

Export aliases for TTC18 gene to outside databases

Previous GC identifers: GC10M074359 GC10M074683 GC10M069007

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

(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_000010.10 NC_018921.1 NT_030059.13

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the TTC18 gene promoter:
Tal-1 GATA-3 Nkx2-5 Tal-1beta Evi-1 E47 GATA-1 GATA-2 RORalpha1 ITF-2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: TTC18 promoter sequence

Search SABiosciences Chromatin IP Primers for TTC18

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TTC18

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

Entrez Gene cytogenetic band: 10q22.2 Ensembl cytogenetic band: 10q22.2 HGNC cytogenetic band: 10q22.3

TTC18 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TTC18 gene location

GeneLoc information about chromosome 10 GeneLoc Exon Structure

GeneLoc location for GC10M075013: view genomic region (about GC identifiers)

Start:	75,013,516 bp from pter	End:	75,119,452 bp from pter
Size:	105,937 bases	Orientation:	minus 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: TTC18_HUMAN, Q5T0N1 (See protein sequence)

Recommended Name: Tetratricopeptide repeat protein 18

Size: 1121 amino acids; 125689 Da

Sequence caution: Sequence=AAM20910.1; Type=Frameshift; Positions=Several; Sequence=BAC05358.1; Type=Erroneous

initiation; Note=Translation N-terminally extended; Sequence=CAI15293.1; Type=Erroneous gene model prediction;

Sequence=CAI15294.1; Type=Erroneous gene model prediction; Sequence=CAI15295.1; Type=Erroneous gene model prediction;

Sequence=CAI15296.1; Type=Erroneous gene model prediction;

Secondary accessions: C9JIZ9 Q5T0M4 Q5T0M9 Q5T0N0 Q69YH9 Q8IYZ8 Q8N7D5 Q8NI30 Q8NI31

Alternative splicing: 3 isoforms: Q5T0N1-1 Q5T0N1-2 Q5T0N1-3 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TTC18: NX_Q5T0N1

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q5T0N1

TTC18 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_660153.3

ENSEMBL proteins:

ENSP00000347781 ENSP00000343650 ENSP00000362019 ENSP00000409527 ENSP00000310829

ENSP00000384479 ENSP00000378334

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

TTC18 for domains About GeneDecksing

3 InterPro domains/families:

IPR011990 TPR-like_helical

IPR013026 TPR-contain_dom

IPR019734 TPR_repeat

Graphical View of Domain Structure for InterPro Entry Q5T0N1

ProtoNet protein and cluster: Q5T0N1

UniProtKB/Swiss-Prot: TTC18_HUMAN, Q5T0N1

Similarity: Contains 8 TPR repeats

(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

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1 GenomeRNAi human phenotype for TTC18:

Wnt reporter downregulated

(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 TTC18

(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 TTC18
Search CenterWatch for drugs/clinical trials and news about TTC18

(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,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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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 TTC18 gene:

NM_145170.3

Unigene Clusters for TTC18:

Tetratricopeptide repeat domain 18

Hs.591367 [show with all ESTs], Hs.720588

Unigene Representative Sequences: NM_145170, AK022235

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

ENST00000355577 ENST00000340329 ENST00000493787(uc009xrd.1) ENST00000372928

ENST00000478007 ENST00000433268 ENST00000462684 ENST00000495161 ENST00000310715(uc009xrc.3)

ENST00000401621(uc001jtv.4 uc001jtw.4 uc001jtx.3 uc001jty.3)

ENST00000394865

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Additional cDNA sequence: AK022235.1

10 DOTS entries:

DT.311787 DT.100791253 DT.100021235 DT.100021236 DT.97764905 DT.121301389 DT.121301601 DT.86838809

DT.99951858 DT.99972372

24/61 AceView cDNA sequences (see all 61):

AA461405 CD107987 CF528535 BX093691 AW612223 BM273235 AL833537 AI684461

BM983163 BX504241 AA769128 AI187125 AI027249 AW150097 NM_145170 CK819959

AK098631 BC032856 BQ019201 AI538905 CB853556 AL043737 AW300070 AI204701

GeneLoc Exon Structure

(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

TTC18 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GGACTCTGAG

About this image

TTC18 expression in embryonic tissues and stem cells

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

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Posterior foregut-like cells (A scalable, suspensi...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See TTC18 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TTC18

SOURCE GeneReport for Unigene clusters: Hs.591367 Hs.720588

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In Situ
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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 TTC18 gene from 6/20 species (see all 20) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Ttc18^{1 , 5}	tetratricopeptide repeat domain 18^{1, 5}	81.62(n)¹ 81.92(a)¹		14 (11.53 cM)⁵ 76670¹ NM_029698.1¹ NP_083974.1¹ 20394193⁵
chicken (Gallus gallus)	Aves	TTC18¹	tetratricopeptide repeat domain 18	65.28(n) 59.19(a)		769473 XM_001232753.2 XP_001232754.2
lizard (Anolis carolinensis)	Reptilia	TTC18⁶	--	64(a)	1 ↔ 1	GL344148.1(328-21504)
tropical clawed frog (Xenopus tropicalis)	Amphibia	Str.13839²	Transcribed sequences	72.4(n)		BX740230.1
zebrafish (Danio rerio)	Actinopterygii	ttc18¹	tetratricopeptide repeat domain 18	56.23(n) 50.54(a)		564542 XM_687871.5 XP_692963.3
honey bee (Apis mellifera)	Insecta	--	--	22(a)	1 ↔ 1	GroupUn.4148(1531-8420)

ENSEMBL Gene Tree for TTC18 (if available)
TreeFam Gene Tree for TTC18 (if available)

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

(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 10 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs7342113^1,2	C,F,A,H,	--	75014463(+)	`GGGAAC/GTGAAG`	2	--	int¹		9		NS EA NA CSA WA	782
rs185637944^1,2		--	75014584(+)	`AGGCTA/GCAATT`	2	--	int¹		0	--	--	--	--
rs189269150^1,2		--	75014838(+)	`CAACAC/TAGCAA`	2	--	int¹		0	--	--	--	--
rs7921444^1,2	C,F,	--	75014856(+)	`tctctA/Gtgaaa`	2	--	int¹		1		WA	118
rs115413323^1,2		--	75014883(+)	`CAGGCG/ATGGTG`	2	--	int¹		1		WA	118
rs138425014^1,2		--	75014928(+)	`GAGGCA/GGGGGG`	2	--	int¹		0	--	--	--	--
rs13376796^1,2	C,F,	--	75014984(+)	`accctA/Gtctac`	2	--	int¹		1		WA	118
rs143031737^1,2		--	75015023(+)	`GTGGCA/GGGCGG`	2	--	int¹		0	--	--	--	--
rs192486000^1,2		--	75015077(+)	`GAACCC/TGGGAG`	2	--	int¹		0	--	--	--	--
rs184873947^1,2		--	75015289(+)	`CCTGGA/GCAACA`	2	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for TTC18 (75013516 - 75119452 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for TTC18: --

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(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

TTC18 for disorders About GeneDecksing

1 disease for TTC18: About MalaCards

alzheimer's disease

Human Genome Epidemiology (HuGE) Navigator: TTC18 (1 document)

Export disorders for TTC18 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 TTC18 gene integrated from 9 sources:
(articles sorted by number of sources associating them with TTC18)

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

Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)² Bechtel S.... Schupp I. (2007)
A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PubMed id 16385451)¹ Grupe A....Goate A. (2006)
The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)² Deloukas P.... Rogers J. (2004)
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: 118491	HGNC: 30726	AceView: TTC18	Ensembl:ENSG00000156042	euGenes: HUgn118491
ECgene: TTC18	H-InvDB: TTC18

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for TTC18	Pharmacogenomics, SNPs, Pathways

Intellectual Property for TTC18 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for TTC18 gene:
Search GeneIP for patents involving TTC18

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),
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About This Section


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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TTC18

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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TTC18

GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes TTC18 gene at Home site.

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TTC18 Gene

tetratricopeptide repeat domain 18

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TTC18 Gene

tetratricopeptide repeat domain 18

Aliasesfor TTC18 gene

Summariesfor TTC18 gene

Genomic Viewsfor TTC18 gene

Proteinsfor TTC18 gene

Protein Domains /Familiesfor TTC18 gene

Functionfor TTC18 gene

Pathways & Interactionsfor TTC18 gene

Drugs & Compoundsfor TTC18 gene

Transcriptsfor TTC18 gene

Expression for TTC18 gene

Orthologsfor TTC18 gene

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Genomic Variantsfor TTC18 gene

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External Searches for TTC18 gene

Genome Databases showing TTC18 gene

Other Databases showing TTC18 gene

Specialized Databases showing TTC18 gene

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Productsfor TTC18 gene

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Aliases
for TTC18 gene

Summaries
for TTC18 gene

Genomic Views
for TTC18 gene

Proteins
for TTC18 gene

Protein Domains /
Families
for TTC18 gene

Function
for TTC18 gene

Pathways & Interactions
for TTC18 gene

Drugs & Compounds
for TTC18 gene

Transcripts
for TTC18 gene

Expression
for TTC18 gene

Orthologs
for TTC18 gene

Paralogs
for TTC18 gene

Genomic Variants
for TTC18 gene

Disorders / Diseases
for TTC18 gene

Publications
for TTC18 gene

Intellectual Property
for TTC18 gene

Products
for TTC18 gene