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TTLL2 Gene

protein-coding   GIFtS: 41
GCID: GC06P167738

Tubulin Tyrosine Ligase-Like Family, Member 2

(Previous name: chromosome 6 open reading frame 104)
(Previous symbol: C6orf104)
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(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
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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000006.11  NT_025741.16  NC_018917.2  
Regulatory elements:
   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 Chromatin IP Primers for TTLL2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See TTLL2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_114155.4  
    ENSEMBL proteins: 
     ENSP00000239587   ENSP00000424130   ENSP00000423198  

    TTLL2 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for TTLL2

     
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    antibodies-online proteins for TTLL2 (3 products) 

     
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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:
    TTLL: Tubulin tyrosine ligase-like family

    2 InterPro protein domains:
     IPR028330 TTLL2
     IPR004344 TTL/TTLL_fam

    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


    Find genes that share domains with TTLL2           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016874ligase activity IEA--
         
    Find genes that share ontologies with TTLL2           About GenesLikeMe


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TTLL2
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TTLL2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TTLL2

    miRNA
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    1 qRT-PCR Assays for microRNA that regulate TTLL2:
    hsa-miR-452
    SwitchGear 3'UTR luciferase reporter plasmidTTLL2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat TTLL2

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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TTLL2

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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
    nucleus2
    cytosol1
    endoplasmic reticulum1
    mitochondrion1

    (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 TTLL2
    Interactions:

        Search GeneGlobe Interaction Network for TTLL2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    Selected Interacting proteins for TTLL2 (ENSP000002395874) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DCP1BENSP000002806654STRING: ENSP00000280665
    ATAD5ENSP000003131714STRING: ENSP00000313171
    RFC1ENSP000002614244STRING: ENSP00000261424
    APOA1BPENSP000003572184STRING: ENSP00000357218
    EDC3ENSP000003205034STRING: ENSP00000320503
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

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

    Find genes that share ontologies with TTLL2           About GenesLikeMe



    (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 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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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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    1 qRT-PCR Assays for microRNA that regulate TTLL2:
    hsa-miR-452
    SwitchGear 3'UTR luciferase reporter plasmidTTLL2 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for TTLL2
    Predesigned siRNA for gene silencing in human, mouse, rat TTLL2
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      QuantiTect SYBR Green Assays in human, mouse, rat TTLL2
      QuantiFast Probe-based Assays in human, mouse, rat TTLL2

    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:

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

    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™, 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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    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

    TTLL2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TTLL2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.520554

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

        Custom PCR Arrays for TTLL2
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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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for TTLL2 gene from Selected species (see all 11)    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 71.59(n)1
    67.96(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_419607.4  XP_419607.1 
    lizard
    (Anolis carolinensis)
    Reptilia TTLL26
    tubulin tyrosine ligase-like family, member 2
    48(a)
    1 ↔ 1
    1(225373632-225386788)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004979701 probable tubulin polyglutamylase TTLL2-like 56.87(n)
    51.68(a)
      100497970  XM_004914654.1  XP_004914711.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ttll21 tubulin tyrosine ligase-like family, member 2 52.76(n)
    48.5(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)
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    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

    Find genes that share paralogs with TTLL2           About GenesLikeMe



    (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 TTLL2 (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) Selected 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

    Site Specific Mutation Identification with PCR Assays
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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.)
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    Find genes that share disorders with TTLL2           About GenesLikeMe

    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)
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    PubMed articles for TTLL2 gene integrated from 10 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. (Nat. Genet. 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. (Gene 2000)
    3. Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. (PubMed id 23382691)1 Lauc G....Rudan I. (PLoS Genet. 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. (Genome Res. 2004)
    5. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)2 Mungall A.J.... Beck S. (Nature 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    7. Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. (PubMed id 8125298)1 Maruyama K. and Sugano S. (Gene 1994)
    8. (PubMed id )2 

    (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: 83887 HGNC: 21211 AceView: TTLL2 Ensembl:ENSG00000120440 euGenes: HUgn83887
    ECgene: TTLL2 H-InvDB: TTLL2

    (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 TTLL2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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