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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TTLL2 Gene

protein-coding   GIFtS: 40
GCID: GC06P167738

Tubulin Tyrosine Ligase-Like Family, Member 2

(Previous name: chromosome 6 open reading frame 104)
(Previous symbol: C6orf104)
  Search for TTLL2
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Tubulin Tyrosine Ligase-Like Family, Member 21 2     NYD-TSPG2
C6orf1041 2 3     dJ366N23.32
Testis-Specific Protein NYD-TSPG2 3     Probable Tubulin Polyglutamylase TTLL22
Tubulin--Tyrosine Ligase-Like Protein 22 3     EC 6.-.-.-3
Chromosome 6 Open Reading Frame 1041     

External Ids:    HGNC: 212111   Entrez Gene: 838872   Ensembl: ENSG000001204407   UniProtKB: Q9BWV73   

Export aliases for TTLL2 gene to outside databases

Previous GC identifers: GC06P167647 GC06P167708 GC06P167658 GC06P165211


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

GeneCards Summary for TTLL2 Gene: 
TTLL2 (tubulin tyrosine ligase-like family, member 2) is a protein-coding gene. GO annotations related to this gene include tubulin-tyrosine ligase activity. An important paralog of this gene is TTLL4.

UniProtKB/Swiss-Prot: TTLL2_HUMAN, Q9BWV7
Function: Probable tubulin polyglutamylase that forms polyglutamate side chains on tubulin. Probably acts when
complexed with other proteins (By similarity)




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.2  NT_025741.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TTLL2 gene promoter:
         RFX1   NRSF form 1   XBP-1   NF-kappaB   NRSF form 2   AREB6   POU2F1   NF-kappaB2   POU2F1a   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTTLL2 promoter sequence
   Search SABiosciences Chromatin IP Primers for TTLL2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TTLL2


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

Entrez Gene cytogenetic band: 6q27   Ensembl cytogenetic band:  6q27   HGNC cytogenetic band: 6q27

TTLL2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TTLL2 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P167738:  view genomic region     (about GC identifiers)

Start:
167,738,574 bp from pter      End:
167,772,991 bp from pter
Size:
34,418 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: TTLL2_HUMAN, Q9BWV7 (See protein sequence)
Recommended Name: Probable tubulin polyglutamylase TTLL2  
Size: 592 amino acids; 67336 Da
Caution: Product of a dubious CDS prediction. May be produced at very low levels due to a premature stop codon in
the mRNA, leading to nonsense-mediated mRNA decay
Secondary accessions: B2RB11 B3KS77 Q7Z6R8 Q86X22

Explore the universe of human proteins at neXtProt for TTLL2: NX_Q9BWV7

Explore proteomics data for TTLL2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9BWV7

  • TTLL2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TTLL2 Protein Expression
    REFSEQ proteins: NP_114155.4  
    ENSEMBL proteins: 
     ENSP00000239587   ENSP00000424130   ENSP00000423198  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    TTLL: Tubulin tyrosine ligase-like family

    1 InterPro protein domain:
     IPR004344 Tub_tyr_ligase

    Graphical View of Domain Structure for InterPro Entry Q9BWV7

    ProtoNet protein and cluster: Q9BWV7

    1 Blocks protein domain: IPB004344 Tubulin-tyrosine ligase

    UniProtKB/Swiss-Prot: TTLL2_HUMAN, Q9BWV7
    Similarity: Belongs to the tubulin--tyrosine ligase family
    Similarity: Contains 1 TTL domain


    TTLL2 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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TTLL2_HUMAN, Q9BWV7
    Function: Probable tubulin polyglutamylase that forms polyglutamate side chains on tubulin. Probably acts when
    complexed with other proteins (By similarity)

         Enzyme Number (IUBMB): EC 6.-.-.-1

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004835tubulin-tyrosine ligase activity ----
    GO:0016874ligase activity IEA--
         
    TTLL2 for ontologies           About GeneDecksing


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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TTLL2

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006464cellular protein modification process IEA--

    TTLL2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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
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    Browse Tocris compounds for TTLL2

    Search CenterWatch for drugs/clinical trials and news about TTLL2

    (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,
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    About This Section

    REFSEQ mRNAs for TTLL2 gene: 
    NM_031949.4  

    Unigene Cluster for TTLL2:

    Tubulin tyrosine ligase-like family, member 2
    Hs.520554  [show with all ESTs]
    Unigene Representative Sequence: NM_031949
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000239587 ENST00000515138(uc003qvs.1) ENST00000512917
    miRNA
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    hsa-miR-452
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    Inhib. RNA
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    Additional mRNA sequence: 

    AK093039.1 AK098527.1 AK225984.1 AK301755.1 AK314450.1 AY026506.1 BC047411.1 

    2 DOTS entries:

    DT.40126558  DT.102842417 

    16 AceView cDNA sequences:

    BP370986 BX094765 AI204535 AA916546 BG720252 AX747876 AK093039 AY026506 
    BC030650 AK098527 NM_031949 BI560373 BC047411 BI462156 BI463431 BP368927 

    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

    TTLL2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    TTLL2 Expression
    About this image


    See TTLL2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TTLL2

    SOURCE GeneReport for Unigene cluster: Hs.520554

    UniProtKB/Swiss-Prot: TTLL2_HUMAN, Q9BWV7
    Tissue specificity: Testis

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TTLL2

    (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 TTLL2 gene from 4/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ttll21 , 5 tubulin tyrosine ligase-like family, member 21, 5 71.07(n)1
    67.77(a)1
      17 (4.72 cM)5
    1002164741  NM_001098267.11  NP_001091737.11 
     73509045 
    chicken
    (Gallus gallus)
    Aves TTLL21 tubulin tyrosine ligase-like family, member 2 59.99(n)
    53.95(a)
      421566  XM_419607.3  XP_419607.1 
    lizard
    (Anolis carolinensis)
    Reptilia TTLL26
    Uncharacterized protein
    47(a)
    1 ↔ 1
    1(225373632-225386788)
    zebrafish
    (Danio rerio)
    Actinopterygii ttll21 tubulin tyrosine ligase-like family, member 2 52.66(n)
    48.08(a)
      799958  NM_001111230.1  NP_001104700.1 


    ENSEMBL Gene Tree for TTLL2 (if available)
    TreeFam Gene Tree for TTLL2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TTLL2 gene
    TTLL42  TTLL102  ENSG000002611472  TTLL32  TTLL12  TTLL52  TTLL112  TTLL92  
    TTLL72  TTLL62  TTL2  TTLL82  TTLL132  ARPC4-TTLL32  
    1 SIMAP similar gene for TTLL2 using alignment to 2 protein entries:     TTLL2_HUMAN (see all proteins):
    TTLL1

    TTLL2 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) 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

    10/576 SNPs in TTLL2 are shown (see all 576)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs38140871,2
    C,F,H--167736589(-) AAAACT/CCTGTA 1 -- us2k14Minor allele frequency- C:0.00NS EA 420
    rs1413442131,2
    --167736669(+) GGTGCA/GTAAAA 1 -- us2k10--------
    rs38140861,2
    C,F,A,H--167736793(-) GCTTCG/ATGCTG 1 -- us2k111Minor allele frequency- A:0.27EA NS NA WA 1850
    rs566757471,2
    C,F--167736794(+) AGCACG/AAAGCC 1 -- us2k16Minor allele frequency- A:0.16WA NA CSA 245
    rs1116217531,2
    C,F--167736858(+) GGTTGG/AGTCTC 1 -- us2k11Minor allele frequency- A:0.50WA 2
    rs38140851,2
    C,F,A,H--167736870(-) ACTTTG/AACGTC 1 -- us2k1 tfbs330Minor allele frequency- A:0.25EA NS NA WA CSA 4077
    rs38140841,2
    C,F,A,H--167736952(-) CCACCC/TAACTC 1 -- us2k117Minor allele frequency- T:0.28NS EA NA WA CSA 791
    rs1476008901,2
    C--167737034(+) TTTGGG/TGAAAT 1 -- us2k10--------
    rs77547811,2
    C,F,A,H--167737067(+) TCAGAA/CAAAAA 1 -- us2k113Minor allele frequency- C:0.28NS EA NA WA 788
    rs1928614451,2
    --167737090(+) AAAAAA/TGCACA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for TTLL2 (167738574 - 167772991 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/14 variations for TTLL2 (see all 14):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2733230CNV Deletion23290073
    nsv464145CNV Loss19166990
    esv33288CNV Loss17666407
    nsv886946CNV Loss21882294
    nsv886945CNV Loss21882294
    nsv470873CNV Gain18288195
    nsv464141CNV Gain19166990
    esv34252CNV Gain17911159
    nsv886947CNV Gain21882294
    esv24545CNV Gain+Loss19812545

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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.)
    About This Section

    TTLL2 for disorders           About MalaCards

    TTLL2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): TTLL2

    Export disorders for TTLL2 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 TTLL2 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with TTLL2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    2. Characterization of the human tubulin tyrosine ligase-like 1 gene (TTLL1) mapping to 22q13.1. (PubMed id 11054573)1, 3 Trichet V.... De Sario A. (2000)
    3. Loci associated with N-glycosylation of human immunogl obulin G show pleiotropy with autoimmune diseases and haematological cancers. (PubMed id 23382691)1 Lauc G....Rudan I. (2013)
    4. 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)
    5. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)2 Mungall A.J.... Beck S. (2003)
    6. 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)
    7. Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )2 Aoki H.... Hino O. (2000)
    8. Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. (PubMed id 8125298)1 Maruyama K. and Sugano S. (1994)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 83887 HGNC: 21211 AceView: TTLL2 Ensembl:ENSG00000120440 euGenes: HUgn83887
    ECgene: TTLL2 H-InvDB: TTLL2

    (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
    NameDescription
    PharmGKB entry for TTLL2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for TTLL2 gene:
    Search GeneIP for patents involving TTLL2

    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, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, 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, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    (GIFtS: 73)
    transforming growth factor, beta 1
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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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