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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

TTC21A Gene

protein-coding GIFtS: 40
GCID: GC03P039125

tetratricopeptide repeat domain 21A

Search for TTC21A
in

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 21A¹ ²
STI2¹ ² ³
Stress-Inducible Protein 2² ³
TPR Repeat Protein 21A² ³
Tetratricopeptide Repeat Protein 21A²
TPR Domain Containing STI2²

External Ids:	HGNC: 30761¹	Entrez Gene: 199223²	Ensembl: ENSG00000168026⁷	OMIM: 611430⁵	UniProtKB: Q8NDW8³

Export aliases for TTC21A 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_000003.11 NC_018914.1 NT_022517.18

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the TTC21A gene promoter:
NF-1/L NF-1 AML1a Pax-5 Tal-1 NCX/Ncx LCR-F1 HNF-4alpha1 E47 COMP1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): TTC21A promoter sequence

Search SABiosciences Chromatin IP Primers for TTC21A

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TTC21A

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

Entrez Gene cytogenetic band: 3p22.2 Ensembl cytogenetic band: 3p22.2 HGNC cytogenetic band: 3p22.2

TTC21A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TTC21A gene location

GeneLoc information about chromosome 3 GeneLoc Exon Structure

GeneLoc location for GC03P039125: view genomic region (about GC identifiers)

Start:	39,149,152 bp from pter	End:	39,180,394 bp from pter
Size:	31,243 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: TT21A_HUMAN, Q8NDW8 (See protein sequence)

Recommended Name: Tetratricopeptide repeat protein 21A

Size: 1320 amino acids; 150944 Da

Sequence caution: Sequence=BAC04129.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

Secondary accessions: A1L388 B4DYF6 B4DYJ3 D3YTE7 D4PHA5 Q6P5W8 Q8N7G5 Q8NA02

Alternative splicing: 5 isoforms: Q8NDW8-1 Q8NDW8-3 Q8NDW8-5 Q8NDW8-6 Q8NDW8-7 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TTC21A: NX_Q8NDW8

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q8NDW8

TTC21A Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001098983.2 NP_665698.2

ENSEMBL proteins:

ENSP00000398211 ENSP00000405396 ENSP00000395118 ENSP00000409299 ENSP00000410882

ENSP00000301819

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

TTC21A for domains About GeneDecksing

4 InterPro domains/families:

IPR011990 TPR-like_helical

IPR013105 TPR_2

IPR013026 TPR-contain_dom

IPR019734 TPR_repeat

Graphical View of Domain Structure for InterPro Entry Q8NDW8

ProtoNet protein and cluster: Q8NDW8

UniProtKB/Swiss-Prot: TT21A_HUMAN, Q8NDW8

Similarity: Belongs to the TTC21 family

Similarity: Contains 19 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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In Situ Assay
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(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 TTC21A

(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 TTC21A
Search CenterWatch for drugs/clinical trials and news about TTC21A / TT21A

(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 TTC21A gene (2 alternative transcripts):

NM_001105513.2 NM_145755.2

Unigene Cluster for TTC21A:

Tetratricopeptide repeat domain 21A

Hs.443935 [show with all ESTs]

Unigene Representative Sequence: NM_145755

18/19 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):

ENST00000431162 ENST00000479954(uc003cja.3 uc010hho.2 uc003cjb.3)

ENST00000430597 ENST00000493337 ENST00000431559 ENST00000490036 ENST00000459702

ENST00000425163 ENST00000440121 ENST00000466875 ENST00000471025 ENST00000473587

ENST00000472866 ENST00000493856(uc003cjf.2) ENST00000481734(uc011ayy.2)

ENST00000465962 ENST00000490245 ENST00000460460

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		hsa-miR-181a-2*
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Additional cDNA sequence:

AJ487015.1 AK093313.1 AK098528.1 AK302408.1 AK302465.1 BX647142.1

14 DOTS entries:

DT.95148806 DT.206628 DT.99965464 DT.100020789 DT.101977253 DT.120871636 DT.100661116 DT.65285881

DT.95135245 DT.101979055 DT.120871574 DT.120871638 DT.91747542 DT.91683921

24/68 AceView cDNA sequences (see all 68):

AA383588 AU122756 BM992228 BC039691 CD300502 AK094981 AK098528 AL043831

CA445155 BX437738 AA834925 BQ225983 BM982131 BX471740 BV205596 AL041634

CD244428 BG570675 BM127098 AL043995 AK093313 BF741636 AK022483 CD243620

GeneLoc Exon Structure

5/13 Alternative Splicing Database (ASD) splice patterns (SP) for TTC21A (see all 13) About this scheme

ExUns:	1	^	2	^	3	^	4a	·	4b	^	5a	·	5b	^	6	^	7	^	8	^	9	^	10	^	11a	·	11b	^	12	^	13	^	14a	·	14b	^	15a	·	15b	^	16	^	17	^	18	^	19	^	20a	·	20b	^
SP1:																																																	-
SP2:
SP3:
SP4:
SP5:																					-

ExUns:	21	^	22a	·	22b	·	22c	^	23a	·	23b	^	24	^	25a	·	25b	^	26a	·	26b	·	26c	^	27	^	28a	·	28b	^	29	^	30	^	31
SP1:	-		-								-				-				-										-
SP2:			-								-				-				-										-
SP3:											-				-				-										-
SP4:
SP5:

ECgene alternative splicing isoforms for TTC21A

(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

TTC21A expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GAGAAGGAGC

About this image

TTC21A expression in embryonic tissues and stem cells

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

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Eye

Outer Nuclear Layer

Mature Rod Cells

Photoreceptors, Retina

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

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

See TTC21A Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TTC21A

SOURCE GeneReport for Unigene cluster: Hs.443935

UniProtKB/Swiss-Prot: TT21A_HUMAN, Q8NDW8

Tissue specificity: Strongly expressed in testis

SABiosciences Custom PCR Arrays for TTC21A

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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 TTC21A gene from 5/18 species (see all 18) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Ttc21a^{1 , 5}	tetratricopeptide repeat domain 21A^{1, 5}	80.34(n)¹ 77.13(a)¹		9 (71.33 cM)⁵ 74052¹ NM_028735.3¹ NP_083011.2¹ 119937606⁵
lizard (Anolis carolinensis)	Reptilia	TTC21A⁶	--	62(a)	1 ↔ 1	6(372487-398996)
zebrafish (Danio rerio)	Actinopterygii	CU633479.2⁶ si:dkeyp-27g9.3⁶ (see all 3)	si:dkeyp-27g9.3 (see all 3)	46(a) 44(a) (see all 3)	possible ortholog possible ortholog (see all 3)	24(42576639-42579676) 24(42426010-42601830)
honey bee (Apis mellifera)	Insecta	--	--	33(a)	possible ortholog	GroupUn.753(51553-55889)
worm (Caenorhabditis elegans)	Secernentea	ZK328.7⁶	Tetratricopeptide repeat protein 21 homolog	28(a)	possible ortholog	III(6032647-6039425)

ENSEMBL Gene Tree for TTC21A (if available)
TreeFam Gene Tree for TTC21A (if available)

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

Paralogs for TTC21A gene

TTC21B²

1 SIMAP similar gene for TTC21A using alignment to 2 protein entries: TT21A_HUMAN (see all proteins):

TTC21B

TTC21A 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 3 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs200785639^1,2	C,	--	39150586(+)	`GATCAC/TTTACT`	4	T I	mis¹		0	--	--	--	--
rs190808723^1,2	C,	--	39150614(+)	`TTCCAC/TCATGT`	4	H	syn¹		0	--	--	--	--
rs61742187^1,2	C,F,	--	39150636(+)	`CAGCTG/TTGGGC`	4	V L	mis¹		2		NS CSA	77
rs149167358^1,2		--	39151250(+)	`ACTGAC/TGCAGC`	2	--	int¹		0	--	--	--	--
rs116613476^1,2	C,F,	--	39151287(+)	`CCACAA/GGTACT`	2	--	int¹		1		WA	118
rs143265995^1,2		--	39151429(+)	`AGCAGG/TTAGTA`	2	--	int¹		0	--	--	--	--
rs151254097^1,2		--	39151442(+)	`GCTGAA/GCTGTT`	2	--	int¹		0	--	--	--	--
rs192621628^1,2	C,	--	39151480(+)	`TAGTCC/GTGGAG`	2	--	int¹		0	--	--	--	--
rs75418963^1,2	C,	--	39151537(+)	`ATGCCA/GTCAGT`	4	I V	mis¹		0	--	--	--	--
rs140429444^1,2	C,	--	39151553(+)	`GGAAAA/GCATCA`	4	N S	mis¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for TTC21A (39149152 - 39180394 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for TTC21A: --

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TTC21A

DNA2.0 Custom Variant and Variant Library Synthesis for TTC21A

(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

TTC21A for disorders About MalaCards

TTC21A for disorders About GeneDecksing

OMIM gene information: 611430 OMIM disorders: --

Export disorders for TTC21A 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 TTC21A gene integrated from 9 sources:
(articles sorted by number of sources associating them with TTC21A)

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)
Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)¹ Kimura K.... Sugano S. (2006)
The DNA sequence, annotation and analysis of human chromosome 3. (PubMed id 16641997)² Muzny D.M....Gibbs R.A. (2006)
An integrated physical and gene map of the 3.5-Mb chromosome 3p21.3 (AP20) region implicated in major human epithelial malignancies. (PubMed id 12543795)² Protopopov A.... Zabarovsky E.R. (2003)
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: 199223	HGNC: 30761	AceView: STI2	Ensembl:ENSG00000168026	euGenes: HUgn199223
ECgene: TTC21A	H-InvDB: TTC21A

(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 TTC21A	Pharmacogenomics, SNPs, Pathways

Intellectual Property for TTC21A gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for TTC21A gene:
Search GeneIP for patents involving TTC21A

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
About This Section


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	OriGene siRNA for TTC21A		OriGene 3'-UTR Clone for TTC21A
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	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat TTC21A
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	GenScript Custom Purified and Recombinant Proteins Services for TTC21A		GenScript cDNA clones with any tag delivered in your preferred vector for TTC21A
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	Gene Mutant Library, Variants up to 10^11		Plasmid Preparation
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TTC21A

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

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TTC21A Gene

tetratricopeptide repeat domain 21A

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TTC21A Gene

tetratricopeptide repeat domain 21A

Aliasesfor TTC21A gene

Summariesfor TTC21A gene

Genomic Viewsfor TTC21A gene

Proteinsfor TTC21A gene

Protein Domains /Familiesfor TTC21A gene

Functionfor TTC21A gene

Pathways & Interactionsfor TTC21A gene

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Expression for TTC21A gene

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External Searches for TTC21A gene

Genome Databases showing TTC21A gene

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Specialized Databases showing TTC21A gene

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for TTC21A gene

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for TTC21A gene

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for TTC21A gene

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for TTC21A gene

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for TTC21A gene

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for TTC21A gene

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