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TTC22 Gene

protein-coding   GIFtS: 42
GCID: GC01M055246

Tetratricopeptide Repeat Domain 22

  Search for TTC22
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Tetratricopeptide Repeat Domain 221 2
TPR Repeat Protein 222 3
Tetratricopeptide Repeat Protein 222

External Ids:    HGNC: 260671   Entrez Gene: 550012   Ensembl: ENSG000000065557   UniProtKB: Q5TAA03   

Export aliases for TTC22 gene to outside databases

Previous GC identifers: GC01M054963 GC01M055022 GC01M053360


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for TTC22 Gene:
This gene encodes a protein with seven tetratricopeptide (TPR) repeats. Tetratricopeptide repeat containing motifs
are found in a variety of proteins and may mediate protein-protein interactions and chaperone activity.
Alternatively spliced transcript variants have been found for this gene. (provided by RefSeq, Jun 2011)

GeneCards Summary for TTC22 Gene:
TTC22 (tetratricopeptide repeat domain 22) is a protein-coding 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000001.11  NC_018912.2  NT_032977.10  
Regulatory elements:
   Regulatory transcription factor binding sites in the TTC22 gene promoter:
         CREB   AML1a   NRSF form 1   NRSF form 2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTTC22 promoter sequence
   Search Chromatin IP Primers for TTC22

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TTC22


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

Entrez Gene cytogenetic band: 1p32.3   Ensembl cytogenetic band:  1p32.3   HGNC cytogenetic band: 1p32.3

TTC22 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TTC22 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M055246:  view genomic region     (about GC identifiers)

Start:
55,245,385 bp from pter      End:
55,266,941 bp from pter
Size:
21,557 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: TTC22_HUMAN, Q5TAA0 (See protein sequence)
Recommended Name: Tetratricopeptide repeat protein 22  
Size: 569 amino acids; 63361 Da
Secondary accessions: Q9NWT4
Alternative splicing: 2 isoforms:  Q5TAA0-1   Q5TAA0-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TTC22: NX_Q5TAA0

Explore proteomics data for TTC22 at MOPED


See TTC22 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (2 alternative transcripts): 
NP_001107580.1  NP_060374.2  

ENSEMBL proteins: 
 ENSP00000360323   ENSP00000360321   ENSP00000390300  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:
TTC: Tetratricopeptide (TTC) repeat domain containing

3 InterPro protein domains:
 IPR011990 TPR-like_helical
 IPR013105 TPR_2
 IPR019734 TPR_repeat

Graphical View of Domain Structure for InterPro Entry Q5TAA0

ProtoNet protein and cluster: Q5TAA0

UniProtKB/Swiss-Prot: TTC22_HUMAN, Q5TAA0
Similarity: Contains 7 TPR repeats


TTC22 for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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     Gene Ontology (GO): 1 molecular function term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005515protein binding ----
     
TTC22 for ontologies           About GeneDecksing


Phenotypes:
     1 GenomeRNAi human phenotype for TTC22:
 Increased gamma-H2AX phosphory 

Animal Models:
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
cytosol2
nucleus2
plasma membrane1

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TTC22
Interactions:

    Search GeneGlobe Interaction Network for TTC22

STRING Interaction Network Preview (showing 5 interactants - click image to see more details)

5 Interacting proteins for TTC22 (ENSP000003603234) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
ACOT11ENSP000003603664STRING: ENSP00000360366
DHCR24ENSP000003603164STRING: ENSP00000360316
FAM151AENSP000003068884STRING: ENSP00000306888
SSBP3ENSP000003603714STRING: ENSP00000360371
MROH7ENSP000003966224STRING: ENSP00000396622
About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
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Browse Tocris compounds for TTC22



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for TTC22 gene (2 alternative transcripts): 
NM_001114108.1  NM_017904.3  

Unigene Cluster for TTC22:

Tetratricopeptide repeat domain 22
Hs.16230  [show with all ESTs]
Unigene Representative Sequence: NM_017904
5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000371276(uc009vzt.1) ENST00000488771 ENST00000371274(uc001cxz.4)
ENST00000448308 ENST00000474654
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Additional mRNA sequence: AK000626.1 

5 DOTS entries:

DT.426210  DT.70103006  DT.100682938  DT.99985742  DT.95185581 

Selected AceView cDNA sequences (see all 27):

AW205741 BX101178 BF000300 NM_017904 AW195337 BX117603 BM929669 BM919426 
BU074508 BF511638 AW263056 BG413447 AK000626 AI923972 BV194956 BU074793 
AA703149 BF511635 AL049431 AI201977 AI242893 AA782829 AA961913 AI088134 

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for TTC22    About this scheme

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


ECgene alternative splicing isoforms for TTC22

(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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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TTC22 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: GCCCTGGATG
TTC22 Expression
About this image

TTC22 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

TTC22 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.16230
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TTC22

(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)
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This gene was present in the common ancestor of chordates.

Orthologs for TTC22 gene from Selected species (see all 10)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Ttc221 , 5 tetratricopeptide repeat domain 221, 5 84.22(n)1
85.37(a)1
  4 (49.67 cM)5
2305761  NM_177667.41  NP_808335.11 
 1066224325 
lizard
(Anolis carolinensis)
Reptilia TTC226
tetratricopeptide repeat domain 22
60(a)
1 ↔ 1
4(104433385-104447933)
tropical clawed frog
(Xenopus tropicalis)
Amphibia ttc221 tetratricopeptide repeat domain 22 56.62(n)
55.33(a)
  100490859  XM_002931463.2  XP_002931509.2 
zebrafish
(Danio rerio)
Actinopterygii ttc221 tetratricopeptide repeat domain 22 56.11(n)
50.93(a)
  497576  XM_002662461.2  XP_002662507.1 


ENSEMBL Gene Tree for TTC22 (if available)
TreeFam Gene Tree for TTC22 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for TTC22 gene

TTC22 for paralogs           About GeneDecksing


1 Pseudogenes.org Pseudogene for TTC22
PGOHUM00000243307


(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for TTC22 (see all 512)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 1 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs23079491,2
C--53377145(-) CACAC-/ATGTGTA 2 -- int15Minor allele frequency- AT:0.34EU NA EA 344
rs753647851,2
C--53377145(+) TACACG/ATGTGT 2 -- int11Minor allele frequency- A:0.00CSA 1
rs763668161,2
--53377146(+) ACACAC/TGTGTG 2 -- int10--------
rs30650991,2
C--55256435(+) ctgct-/GCTTCTtt 2 -- int10--------
rs1123407751,2
C,F--55256699(+) GACTAG/ATTTTT 2 -- int11Minor allele frequency- A:0.50WA 2
rs359766421,2
C--55262144(+) CAATAC/-CTGGC 2 -- int11Minor allele frequency- -:0.50CSA 2
rs350988421,2
C--55262365(+) AGGGAT/-TTTTT 2 -- int11Minor allele frequency- -:0.50NA 2
rs38340211,2
C--55267183(+) GGCTCA/-AGAGG 2 -- us2k1 trp33Minor allele frequency- -:0.17NA CSA 6
rs105617041,2
C--55268058(+) TTAGC-/A/A   
  A
/AAAA
AAAAA
2 -- us2k10--------
rs681307391,2
C--55268058(+) TTAGC-/A/AA  
        
AAAAA
2 -- us2k10--------

HapMap Linkage Disequilibrium report for TTC22 (55245385 - 55266941 bp)

Structural Variations
     Database of Genomic Variants (DGV) 4 variations for TTC22:    About this table    
Variant IDTypeSubtypePubMed ID
nsv871008CNV Loss21882294
nsv817614CNV Gain22305530
nsv461561CNV Gain19166990
dgv229n71CNV Gain21882294

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

(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)
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PubMed articles for TTC22 gene integrated from 10 sources:
(articles sorted by number of sources associating them with TTC22)
    Utopia: connect your pdf to the dynamic
world of online information

  1. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
  3. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1 Bonaldo M.F.... Soares M.B. (Genome Res. 1996)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
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)
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Entrez Gene: 55001 HGNC: 26067 AceView: FLJ20619 Ensembl:ENSG00000006555 euGenes: HUgn55001
ECgene: TTC22 H-InvDB: TTC22

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for TTC22 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for TTC22 gene:
Search GeneIP for patents involving TTC22

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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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 Proteins for TTC22
 Antibodies for TTC22
 ELISAs for TTC22
 CLIAs for TTC22



 Browse ESI BIO Cell Lines and PureStem Progenitors for TTC22
 Gene Synthesis
 Protein Engineering
 Variant Library Synthesis
 Codon Optimization
 Protein Production and Purification
 Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TTC22
 SwitchGear 3'UTR luciferase reporter plasmids for TTC22
 SwitchGear Promoter luciferase reporter plasmids for TTC22
 Search ThermoFisher Antibodies for TTC22
 Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat TTC22
 inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TTC22
 inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for TTC22
 LSBio Antibodies in human, mouse, rat for TTC22
Customized transgenic rodents for:
 Humanization
 Biomarker expression
 Off-target effect monitoring
 Translational medicine
 Tissue-specific gene expresssion
 Time-controlled gene expresssion
 Browse compounds at ApexBio
       
GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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