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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

TTC40 Gene

protein-coding GIFtS: 40
GCID: GC10M134623

tetratricopeptide repeat domain 40

(Previous names: chromosome 10 open reading frame 123, chromosome 10 open...)
(Previous symbols: C10orf123, C10orf124, C10orf93, C10orf92)

Explore 1 disease affiliated with
TTC40 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 40¹ ²		DKFZp434A1721¹
C10orf123¹ ² ³		FLJ25954¹
C10orf124¹ ² ³		Chromosome 10 Open Reading Frame 123¹
C10orf92¹ ² ³		Chromosome 10 Open Reading Frame 124¹
C10orf93¹ ² ³		Chromosome 10 Open Reading Frame 92¹
BA288G11.4¹		Chromosome 10 Open Reading Frame 93¹
BA288G11.5¹		RP13-137A17.3²
BB137A17.2¹		Tetratricopeptide Repeat Protein 40²
BB137A17.3¹		TPR Repeat-Containing Protein C10orf93²

External Ids:	HGNC: 25247¹	Entrez Gene: 54777²	Ensembl: ENSG00000171811⁷	UniProtKB: Q8IYW2³

Export aliases for TTC40 gene to outside databases

(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_008818.16

Regulatory elements:

Search SABiosciences Regulatory transcription factor binding sites for TTC40
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search SABiosciences Chromatin IP Primers for TTC40

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TTC40

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

Entrez Gene cytogenetic band: 10q26.3 Ensembl cytogenetic band: 10q26.3 HGNC cytogenetic band: 10q26.3

TTC40 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TTC40 gene location

GeneLoc information about chromosome 10 GeneLoc Exon Structure

GeneLoc location for GC10M134623: view genomic region (about GC identifiers)

Start:	134,621,896 bp from pter	End:	134,756,327 bp from pter
Size:	134,432 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: TTC40_HUMAN, Q8IYW2 (See protein sequence)

Recommended Name: Tetratricopeptide repeat protein 40

Size: 2715 amino acids; 303500 Da

Sequence caution: Sequence=AAH34223.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

Sequence=BAC05424.1; Type=Erroneous termination; Positions=7; Note=Translated as Gln; Sequence=CAI17262.1;

Type=Erroneous gene model prediction; Sequence=CAI39950.2; Type=Erroneous gene model prediction; Sequence=CAI39951.1;

Type=Erroneous gene model prediction;

Secondary accessions: B1AP44 B7WPK8 Q5JSF7 Q5SR76 Q5SR77 Q86ST2 Q8N777 Q9NTQ5

Alternative splicing: 3 isoforms: Q8IYW2-1 Q8IYW2-2 Q8IYW2-3 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TTC40: NX_Q8IYW2

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q8IYW2

TTC40 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_001186978.2

ENSEMBL proteins:

ENSP00000396731 ENSP00000357575 ENSP00000417039 ENSP00000357574 ENSP00000263170

ENSP00000357571

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

TTC40 for domains About GeneDecksing

1 InterPro domain/family:

IPR011990 TPR-like_helical

Graphical View of Domain Structure for InterPro Entry Q8IYW2

ProtoNet protein and cluster: Q8IYW2

UniProtKB/Swiss-Prot: TTC40_HUMAN, Q8IYW2

Similarity: Contains 13 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 TTC40:

Increased S DNA content

(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 TTC40

(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

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Search CenterWatch for drugs/clinical trials and news about TTC40

(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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About This Section

REFSEQ mRNAs for TTC40 gene (3 alternative transcripts):

NM_001200049.2 NM_017609.4 NM_173572.3

Unigene Cluster for TTC40:

Tetratricopeptide repeat domain 40

Hs.298038 [show with all ESTs]

Unigene Representative Sequence: NM_001200049

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

ENST00000435957 ENST00000368586(uc021qbc.1) ENST00000448925 ENST00000476633

ENST00000417862 ENST00000486104(uc009ybf.2) ENST00000466834 ENST00000368585(uc001llt.2)

ENST00000475340(uc001llu.3) ENST00000263170 ENST00000368582

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Additional cDNA sequence:

AK098820.1 AL122111.1 BC034223.1 BC044661.1 BC146900.1 BC146908.1

12 DOTS entries:

DT.40278889 DT.121216501 DT.100008380 DT.95299456 DT.100001562 DT.97822306 DT.100666814 DT.102819557

DT.121272319 DT.121272320 DT.101971547 DT.40197736

15 AceView cDNA sequences:

CA950562 AL122111 BU790245 BU790542 BC034223 NM_017609 BG708430 F32670

CA950326 AK128150 BG773134 CA310952 BE502197 BX282676 AI656413

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

TTC40 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AACAAAATTA

About this image

TTC40 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 TTC40 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TTC40

SOURCE GeneReport for Unigene cluster: Hs.298038

SABiosciences Custom PCR Arrays for TTC40

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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 chordates.

Orthologs for TTC40 gene from 2/13 species (see all 13) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
lizard (Anolis carolinensis)	Reptilia	C10orf93⁶	--	12(a)	1 ↔ 1	3(59326144-59394398)
zebrafish (Danio rerio)	Actinopterygii	CU929144.1⁶	--	10(a)	1 ↔ 1	13(52606141-52670357)

Species with no ortholog for TTC40

ENSEMBL Gene Tree for TTC40 (if available)
TreeFam Gene Tree for TTC40 (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
				--	--	--		--	--
rs79967846^1,2	C,F	--	128250287(+)	`GGTGGG/AGGGAG`	1	--	int¹		3		NA WA	6
rs142092213^1,2		--	134621421(+)	`CCAGAC/GCCCGT`	1	--	int¹		0	--	--	--	--
rs112747001^1,2	C,	--	134621425(+)	`AGCCCG/ATGTGT`	1	--	int¹		2		CSA WA	119
rs874008^1,2	C,F,H,	--	134621442(+)	`GGAGGG/TTGCGT`	1	--	int¹		9		NS EA NA	1386
rs74606697^1,2	C,	--	134621515(+)	`TGACC-/GCCCCC`	1	--	int¹		0	--	--	--	--
rs74401446^1,2	F,	--	134621664(+)	`CTTCAC/TGAGAA`	1	--	int¹		1		EA	120
rs147774653^1,2		--	134621766(+)	`GGTACG/TTGGCC`	1	--	int¹		0	--	--	--	--
rs148812332^1,2		--	134621831(+)	`GGGGCG/TCATTT`	1	--	int¹		0	--	--	--	--
rs143615542^1,2		--	134621842(+)	`CTTGCA/GGGCCA`	1	--	int¹		0	--	--	--	--
rs193279659^1,2	C,F,	--	134621870(+)	`GCCTCG/AAGTCA`	1	--	int¹		1		EU	593

HapMap Linkage Disequilibrium report for TTC40 (134621896 - 134756327 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for TTC40: --

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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

TTC40 for disorders About GeneDecksing

1 disease for TTC40: About MalaCards

alzheimer's disease

Export disorders for TTC40 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 TTC40 gene integrated from 9 sources:
(articles sorted by number of sources associating them with TTC40)

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

Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)^{1, 2, 3} Wiemann S.... Poustka A. (2001)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)^{1, 2} Deloukas P.... Rogers J. (2004)
hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)¹ Lamesch P.... Vidal M. (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)
Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PubMed id 15146197)¹ Brandenberger R.... Stanton L.W. (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)
The sequence of the human genome. (PubMed id 11181995)¹ Venter J.C.... Zhu X. (2001)
Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)¹ Bonaldo M.F.... Soares M.B. (1996)

(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: 54777	HGNC: 25247	AceView: C10orf92	Ensembl:ENSG00000171811	euGenes: HUgn54777
ECgene: TTC40	H-InvDB: TTC40

(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 TTC40	Pharmacogenomics, SNPs, Pathways

Intellectual Property for TTC40 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for TTC40 gene:
Search GeneIP for patents involving TTC40

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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TTC40 Proteins, Antibodies, CLIAs, and ELISAs

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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TTC40

	SwitchGear 3'UTR luciferase reporter plasmids for TTC40
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ThermoFisher Antibody for TTC40

Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TTC40

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
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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

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

Hot genes Disease genes TTC40 gene at Home site.

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TTC40 Gene

tetratricopeptide repeat domain 40

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TTC40 Gene

tetratricopeptide repeat domain 40

Aliasesfor TTC40 gene

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Genomic Viewsfor TTC40 gene

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Protein Domains /Familiesfor TTC40 gene

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Specialized Databases showing TTC40 gene

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for TTC40 gene

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for TTC40 gene

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for TTC40 gene

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for TTC40 gene

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for TTC40 gene

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for TTC40 gene

Pathways & Interactions
for TTC40 gene

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for TTC40 gene

Transcripts
for TTC40 gene

Expression
for TTC40 gene

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for TTC40 gene

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for TTC40 gene

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for TTC40 gene

Disorders / Diseases
for TTC40 gene

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for TTC40 gene

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for TTC40 gene

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for TTC40 gene