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TTC7A Gene

protein-coding   GIFtS: 52
GCID: GC02P047143

Tetratricopeptide Repeat Domain 7A

(Previous name: tetratricopeptide repeat domain 7)
(Previous symbol: TTC7)
  See related diseases
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 7A1 2     KIAA11403 5
TTC71 2 3 5     Tetratricopeptide Repeat Domain 71
TPR Repeat Protein 7A2 3     Tetratricopeptide Repeat Protein 7A2
MINAT2 5     

External Ids:    HGNC: 197501   Entrez Gene: 572172   Ensembl: ENSG000000687247   OMIM: 6093325   UniProtKB: Q9ULT03   

Export aliases for TTC7A gene to outside databases

Previous GC identifers: GC02P047079 GC02P047021 GC02P046906


(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 TTC7A Gene:
The tetratricopeptide repeat (TPR) domain is defined by a degenerate consensus sequence of 34 amino acids. TPR
domain-containing proteins, such as TTC7A, have diverse functions in cell cycle control, protein transport,
phosphate turnover, and protein trafficking or secretion, and they can act as chaperones or scaffolding proteins
(White et al., 2005 (PubMed 15718100)).(supplied by OMIM, Mar 2008)

GeneCards Summary for TTC7A Gene:
TTC7A (tetratricopeptide repeat domain 7A) is a protein-coding gene. Diseases associated with TTC7A include multiple intestinal atresia, and inflammatory bowel disease 25, early onset, autosomal recessive. An important paralog of this gene is TTC7B.




(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_000002.12  NT_022184.16  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TTC7A gene promoter:
         NF-1   NF-1/L   AML1a   GATA-3   Egr-1   Lmo2   Egr-4   CREB   deltaCREB   MRF-2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for TTC7A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TTC7A


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

Entrez Gene cytogenetic band: 2p21   Ensembl cytogenetic band:  2p21   HGNC cytogenetic band: 2p16.3

TTC7A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TTC7A gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P047143:  view genomic region     (about GC identifiers)

Start:
47,143,296 bp from pter      End:
47,303,276 bp from pter
Size:
159,981 bases      Orientation:
plus 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: TTC7A_HUMAN, Q9ULT0 (See protein sequence)
Recommended Name: Tetratricopeptide repeat protein 7A  
Size: 858 amino acids; 96185 Da
Sequence caution: Sequence=BAA86454.2; Type=Erroneous translation; Note=Wrong choice of CDS;
Secondary accessions: Q6PIX4 Q8ND67 Q9BUS3
Alternative splicing: 2 isoforms:  Q9ULT0-1   Q9ULT0-3   (No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for TTC7A: NX_Q9ULT0

Explore proteomics data for TTC7A at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys157, Lys172, Lys758, Lys765, Lys800
  • Modification sites at PhosphoSitePlus

  • See TTC7A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001275880.1  NP_001275882.1  NP_001275884.1  NP_065191.2  

    ENSEMBL proteins: 
     ENSP00000386307   ENSP00000316699   ENSP00000378320   ENSP00000393022   ENSP00000386521  
     ENSP00000401467   ENSP00000445265   ENSP00000263737  

    TTC7A Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for TTC7A
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    Novus Biologicals TTC7A Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for TTC7A

    TTC7A Antibody Products:

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    Abcam antibodies for TTC7A
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    LSBio Antibodies in human, mouse, rat for TTC7A

    TTC7A Assay Products:

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    Cloud-Clone Corp. CLIAs for TTC7A


    (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

    5 InterPro protein domains:
     IPR011990 TPR-like_helical
     IPR001440 TPR_1
     IPR026900 Ttc7
     IPR013026 TPR-contain_dom
     IPR019734 TPR_repeat

    Graphical View of Domain Structure for InterPro Entry Q9ULT0

    ProtoNet protein and cluster: Q9ULT0

    UniProtKB/Swiss-Prot: TTC7A_HUMAN, Q9ULT0
    Similarity: Contains 9 TPR repeats


    TTC7A 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 ----
         
    TTC7A for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for TTC7A:
     Decreased nuclei size in G2M 

         13 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Ttc7):
     cardiovascular system  digestive/alimentary  growth/size/body  hematopoietic system  homeostasis/metabolism 
     immune system  integument  limbs/digits/tail  liver/biliary system  mortality/aging 
     pigmentation  renal/urinary system  tumorigenesis 

    TTC7A for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TTC7A
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for TTC7A

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TTC7A
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TTC7A

    miRNA
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    miRTarBase miRNAs that target TTC7A:
    hsa-mir-124-3p (MIRT002709), hsa-mir-10a-5p (MIRT047556)

    Block miRNA regulation of human, mouse, rat TTC7A using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TTC7A (see all 21):
    hsa-miR-362-3p hsa-miR-125a-5p hsa-miR-331-3p hsa-miR-3692 hsa-miR-3171 hsa-miR-1184 hsa-miR-124 hsa-miR-125b
    SwitchGear 3'UTR luciferase reporter plasmidTTC7A 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for TTC7A
    Predesigned siRNA for gene silencing in human, mouse, rat TTC7A

    Gene Editing
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    Clone
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    OriGene clones in human, mouse for TTC7A (see all 7)
    OriGene ORF clones in mouse, rat for TTC7A
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: TTC7A (NM_020458)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TTC7A
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TTC7A

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for TTC7A 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TTC7A


    (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
    cytosol3
    nucleus2
    golgi apparatus1

    (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 TTC7A
    Interactions:

        Search GeneGlobe Interaction Network for TTC7A

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for TTC7A (ENSP000003166994) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006879cellular iron ion homeostasis IEA--
    GO:0030097hemopoiesis IEA--

    TTC7A for ontologies           About GeneDecksing



    (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
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for TTC7A



    (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 TTC7A gene (4 alternative transcripts): 
    NM_001288951.1  NM_001288953.1  NM_001288955.1  NM_020458.3  

    Unigene Cluster for TTC7A:

    Tetratricopeptide repeat domain 7A
    Hs.370603  [show with all ESTs]
    Unigene Representative Sequence: NM_020458
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000409245 ENST00000319190(uc002rvn.1 uc002rvm.3 uc002rvo.3 uc010fbb.3 uc010fbc.3)
    ENST00000461601 ENST00000394850 ENST00000441914 ENST00000409825(uc002rvp.3 uc002rvq.3 uc002rvr.3)
    ENST00000474321 ENST00000491786 ENST00000484061 ENST00000440051 ENST00000484337
    ENST00000496991 ENST00000536057 ENST00000263737
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat TTC7A using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TTC7A (see all 21):
    hsa-miR-362-3p hsa-miR-125a-5p hsa-miR-331-3p hsa-miR-3692 hsa-miR-3171 hsa-miR-1184 hsa-miR-124 hsa-miR-125b
    SwitchGear 3'UTR luciferase reporter plasmidTTC7A 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for TTC7A
    Predesigned siRNA for gene silencing in human, mouse, rat TTC7A
    Clone
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    OriGene clones in human, mouse for TTC7A (see all 7)
    OriGene ORF clones in mouse, rat for TTC7A
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: TTC7A (NM_020458)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TTC7A
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TTC7A
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for TTC7A
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TTC7A
      QuantiTect SYBR Green Assays in human, mouse, rat TTC7A
      QuantiFast Probe-based Assays in human, mouse, rat TTC7A

    Additional mRNA sequence: 

    AB032966.2 AK056464.1 AL117512.1 AL834383.1 BC001978.1 BC065554.1 BC082965.1 BC111487.1 

    18 DOTS entries:

    DT.444751  DT.95256027  DT.100813457  DT.100641842  DT.95256014  DT.95256011  DT.97808830  DT.120932738 
    DT.95256030  DT.95256008  DT.91848849  DT.95256005  DT.95256026  DT.104046  DT.95256003  DT.95256013 
    DT.120932816  DT.97827439 

    3 AceView cDNA sequences:

    AI418397 BF431723 BQ709930 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for TTC7A (see all 7)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^
    SP1:                                                  -                 -                                                           -                 -         
    SP2:                    -                 -           -                 -                                                           -                 -         
    SP3:                                                                    -                                                           -                 -         
    SP4:                                                                                                        -     -                 -                 -         
    SP5:                                                                                                                                                  -         

    ExUns: 23 ^ 24a · 24b
    SP1:                  
    SP2:                  
    SP3:                  
    SP4:                  
    SP5:                  


    ECgene alternative splicing isoforms for TTC7A

    (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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    TTC7A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGAGGGACCT
    TTC7A Expression
    About this image


    TTC7A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Pancreas (Endocrine System)
             Islets of Langerhans
    TTC7A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TTC7A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.370603
        Custom PCR Arrays for TTC7A
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for TTC7A
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TTC7A
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    QuantiFast Probe-based Assays in human, mouse, rat TTC7A
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TTC7A

    (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 animals.

    Orthologs for TTC7A gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ttc71 , 5 tetratricopeptide repeat domain 71, 5 86.89(n)1
    88.45(a)1
      17 (57.12 cM)5
    2250491  NM_028639.31  NP_082915.11 
     872828865 
    chicken
    (Gallus gallus)
    Aves TTC7A1 tetratricopeptide repeat domain 7A 69.72(n)
    73.06(a)
      421414  NM_001031055.1  NP_001026226.1 
    lizard
    (Anolis carolinensis)
    Reptilia TTC7A6
    tetratricopeptide repeat domain 7A
    69(a)
    1 ↔ 1
    2(143124285-143376202)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia ttc7a1 tetratricopeptide repeat domain 7A 68.23(n)
    68.23(a)
      100497629  XM_002932386.2  XP_002932432.2 
    zebrafish
    (Danio rerio)
    Actinopterygii ttc7a1 tetratricopeptide repeat domain 7A 59.66(n)
    54.57(a)
      559345  XM_001921194.4  XP_001921229.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta l(2)k147106
    lethal (2) k14710
    33(a)
    1 → many
    2R(2097287-2101623)
    worm
    (Caenorhabditis elegans)
    Secernentea Y39A3CR.36
    Protein Y39A3CR.3, isoform a
    22(a)
    1 → many
    III(1860429-1877115) WBGene00021444


    ENSEMBL Gene Tree for TTC7A (if available)
    TreeFam Gene Tree for TTC7A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TTC7A gene
    TTC7B2  
    5 SIMAP similar genes for TTC7A using alignment to 9 protein entries:     TTC7A_HUMAN (see all proteins):
    L3MBTL2    TTC7B    ADCY7    PAM16    PSEN1

    TTC7A for paralogs           About GeneDecksing



    (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 TTC7A (see all 3449)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0696364
    Intestinal atresia, multiple (MINAT)4--see VAR_0696362 L P mis40--------
    rs1381824921,2
    --47171011(+) GTCTGA/GTATTT 1 -- int10--------
    rs621405561,2
    C--47171027(+) AGAAAT/CGAAAA 1 -- int13Minor allele frequency- C:0.08WA EA 240
    rs1495744061,2
    C--47171107(+) CTGGAA/GGGATG 1 -- int10--------
    rs1442287521,2
    --47171109(+) GGAGGA/GATGAA 1 -- int10--------
    rs75608271,2
    H--47171191(+) CCAGGG/AGTAAG 1 -- int14Minor allele frequency- A:0.00NS EA 420
    rs1911052661,2
    --47171213(+) TGTCTC/GCTCAC 1 -- int10--------
    rs739269861,2
    C,F--47171237(+) AGATTA/TGGTCA 1 -- int13Minor allele frequency- T:0.08WA NA 240
    rs560743021,2
    F--47171281(+) CTGTGC/TTGGGG 1 -- int11Minor allele frequency- T:0.04NA 120
    rs1807303271,2
    --47171318(+) ATCCAA/GGTGAT 1 -- int10--------

    HapMap Linkage Disequilibrium report for TTC7A (47143296 - 47303276 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for TTC7A (see all 15):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1009804CNV Deletion20482838
    nsv873998CNV Loss21882294
    nsv521400CNV Loss19592680
    nsv518312CNV Loss19592680
    nsv521030CNV Loss19592680
    nsv457363CNV Loss19166990
    nsv519298CNV Loss19592680
    nsv528091CNV Loss19592680
    nsv524970CNV Loss19592680
    nsv525197CNV Loss19592680

    Human Gene Mutation Database (HGMD): TTC7A
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TTC7A
    DNA2.0 Custom Variant and Variant Library Synthesis for TTC7A

    (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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    OMIM gene information: 609332   
    OMIM disorders: 243150  
    UniProtKB/Swiss-Prot: TTC7A_HUMAN, Q9ULT0
  • Intestinal atresia, multiple (MINAT) [MIM:243150]: A rare, severe congenital disorder in which
    obstructions occur at various levels throughout the small and large intestines, ultimately leading to organ
    failure. Surgical interventions are palliative but do not provide long-term survival. Severe immunodeficiency may
    be associated with the phenotype. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • 6 diseases for TTC7A:    
    About MalaCards
    multiple intestinal atresia    inflammatory bowel disease 25, early onset, autosomal recessive    rheumatoid arthritis    arthritis
    prostate cancer    prostatitis


    TTC7A for disorders           About GeneDecksing

    Genetic Association Database (GAD): TTC7A
    Human Genome Epidemiology (HuGE) Navigator: TTC7A (1 document)

    Export disorders for TTC7A 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)
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    PubMed articles for TTC7A gene, integrated from 10 sources (see all 22):
    (articles sorted by number of sources associating them with TTC7A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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. (DNA Res. 1999)
    2. Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia. (PubMed id 23423984)1, 2 Samuels M.E....Maranda B. (J. Med. Genet. 2013)
    3. Genome-wide association of lipid-lowering response to statins in combined study populations. (PubMed id 20339536)1, 4 Barber M.J....Krauss R.M. (PLoS ONE 2010)
    4. Genome-wide association study to identify single nucleotide polymorphisms (SNPs) associated with the development of erectile dysfunction in African-American men after radiotherapy for prostate cancer. (PubMed id 20932654)1, 4 Kerns S.L....Rosenstein B.S. (Int. J. Radiat. Oncol. Biol. Phys. 2010)
    5. Genetic variants at CD28, PRDM1 and CD2/CD58 are associated with rheumatoid arthritis risk. (PubMed id 19898481)1, 4 Raychaudhuri S....Plenge R.M. (Nat. Genet. 2009)
    6. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    7. 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. (Genome Res. 2004)
    8. Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PubMed id 12168954)1, 2 Nakajima D.... Nagase T. (DNA Res. 2002)
    9. TTC7A mutations disrupt intestinal epithelial apicobasal polarity. (PubMed id 24292712)1 Bigorgne A.E....de Saint Basile G. (J. Clin. Invest. 2014)
    10. Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias. (PubMed id 23830146)1 Chen R....Notarangelo L.D. (J. Allergy Clin. Immunol. 2013)

    (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: 57217 HGNC: 19750 AceView: TTC7A.1 Ensembl:ENSG00000068724 euGenes: HUgn57217
    ECgene: TTC7A H-InvDB: TTC7A

    (According to HUGE)
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    HUGE: KIAA1140

    (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 TTC7A 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 TTC7A gene:
    Search GeneIP for patents involving TTC7A

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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