Aliases for TTLL2 Gene

Aliases for TTLL2 Gene

  • Tubulin Tyrosine Ligase Like 2 2 3 5
  • Tubulin--Tyrosine Ligase-Like Protein 2 3 4
  • Probable Tubulin Polyglutamylase TTLL2 3 4
  • Testis-Specific Protein NYD-TSPG 3 4
  • C6orf104 3 4
  • Tubulin Tyrosine Ligase-Like Family, Member 2 3
  • Tubulin Tyrosine Ligase-Like Family Member 2 2
  • Chromosome 6 Open Reading Frame 104 2
  • DJ366N23.3 3
  • EC 6.-.-.- 4
  • NYD-TSPG 3

External Ids for TTLL2 Gene

Previous HGNC Symbols for TTLL2 Gene

  • C6orf104

Previous GeneCards Identifiers for TTLL2 Gene

  • GC06P167647
  • GC06P167708
  • GC06P167658
  • GC06P167738
  • GC06P165211

Summaries for TTLL2 Gene

GeneCards Summary for TTLL2 Gene

TTLL2 (Tubulin Tyrosine Ligase Like 2) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include ligase activity. An important paralog of this gene is TTLL4.

UniProtKB/Swiss-Prot Summary for TTLL2 Gene

  • Probable tubulin polyglutamylase that forms polyglutamate side chains on tubulin. Probably acts when complexed with other proteins (By similarity).

Additional gene information for TTLL2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TTLL2 Gene

Genomics for TTLL2 Gene

GeneHancer (GH) Regulatory Elements for TTLL2 Gene

Promoters and enhancers for TTLL2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J167325 Promoter 0.3 EPDnew 500.7 +0.0 23 0.1 TTLL2 RPS6KA2-AS1 ENSG00000217447 LOC100421518 lnc-UNC93A-2
GH06J167289 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE dbSUPER 13 -33.3 -33266 3.8 POLR2G NCOR1 TEAD4 TGIF2 SKI TEAD1 TBX3 ZKSCAN8 SIN3A FOXA2 UNC93A ENSG00000231720 TTLL2 HSALNG0055161
GH06J167288 Enhancer 1 Ensembl ENCODE dbSUPER 13 -36.0 -35974 1.1 CTCF REST TBX3 SMC3 MXI1 PBX2 MXD4 ZGPAT ZNF654 RAD21 TTLL2 UNC93A HSALNG0055161
GH06J167349 Promoter/Enhancer 1.4 ENCODE CraniofacialAtlas 6 +25.6 25575 2.7 CTCF USF1 NCOR1 ZIC2 ZBTB26 SMC3 MXI1 ZNF341 POLR2A NR2F2 lnc-UNC93A-3 UNC93A LINC01558 TTLL2 TCP10 ENSG00000216966 ENSG00000217447 LOC100421518 lnc-UNC93A-2
GH06J167358 Enhancer 0.2 Ensembl 6.3 +33.5 33530 0.4 TTLL2 RF00994-975 piR-44611-002 lnc-TCP10-1 TCP10
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TTLL2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TTLL2

Top Transcription factor binding sites by QIAGEN in the TTLL2 gene promoter:
  • AREB6
  • NF-kappaB
  • NF-kappaB1
  • NF-kappaB2
  • NRSF form 1
  • NRSF form 2
  • POU2F1
  • POU2F1a
  • RFX1
  • XBP-1

Genomic Locations for TTLL2 Gene

Genomic Locations for TTLL2 Gene
chr6:167,325,071-167,359,503
(GRCh38/hg38)
Size:
34,433 bases
Orientation:
Plus strand
chr6:167,738,574-167,772,991
(GRCh37/hg19)
Size:
34,418 bases
Orientation:
Plus strand

Genomic View for TTLL2 Gene

Genes around TTLL2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TTLL2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TTLL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TTLL2 Gene

Proteins for TTLL2 Gene

  • Protein details for TTLL2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BWV7-TTLL2_HUMAN
    Recommended name:
    Probable tubulin polyglutamylase TTLL2
    Protein Accession:
    Q9BWV7
    Secondary Accessions:
    • B2RB11
    • B3KS77
    • Q7Z6R8
    • Q86X22

    Protein attributes for TTLL2 Gene

    Size:
    592 amino acids
    Molecular mass:
    67336 Da
    Quaternary structure:
    No Data Available

neXtProt entry for TTLL2 Gene

Post-translational modifications for TTLL2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TTLL2 Gene

No data available for DME Specific Peptides for TTLL2 Gene

Domains & Families for TTLL2 Gene

Gene Families for TTLL2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for TTLL2 Gene

Blocks:
  • Tubulin-tyrosine ligase
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TTLL2 Gene

GenScript: Design optimal peptide antigens:
  • Tubulin--tyrosine ligase-like protein 2 (TTLL2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BWV7

UniProtKB/Swiss-Prot:

TTLL2_HUMAN :
  • Belongs to the tubulin--tyrosine ligase family.
Family:
  • Belongs to the tubulin--tyrosine ligase family.
genes like me logo Genes that share domains with TTLL2: view

Function for TTLL2 Gene

Molecular function for TTLL2 Gene

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

Enzyme Numbers (IUBMB) for TTLL2 Gene

Phenotypes From GWAS Catalog for TTLL2 Gene

Gene Ontology (GO) - Molecular Function for TTLL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005524 ATP binding IEA --
GO:0016874 ligase activity IEA --
genes like me logo Genes that share ontologies with TTLL2: view
genes like me logo Genes that share phenotypes with TTLL2: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for TTLL2 Gene

Localization for TTLL2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TTLL2 gene
Compartment Confidence
cytoskeleton 1
mitochondrion 1
nucleus 1
cytosol 1
endoplasmic reticulum 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear membrane (2)
  • Nucleoli (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for TTLL2 Gene

Pathways & Interactions for TTLL2 Gene

PathCards logo

SuperPathways for TTLL2 Gene

No Data Available
;

Gene Ontology (GO) - Biological Process for TTLL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006464 cellular protein modification process IEA --
genes like me logo Genes that share ontologies with TTLL2: view

No data available for Pathways by source and SIGNOR curated interactions for TTLL2 Gene

Drugs & Compounds for TTLL2 Gene

No Compound Related Data Available

Transcripts for TTLL2 Gene

mRNA/cDNA for TTLL2 Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TTLL2 Gene

No ASD Table

Relevant External Links for TTLL2 Gene

GeneLoc Exon Structure for
TTLL2

Expression for TTLL2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TTLL2 Gene

mRNA differential expression in normal tissues according to GTEx for TTLL2 Gene

This gene is overexpressed in Testis (x35.7).

Protein differential expression in normal tissues from HIPED for TTLL2 Gene

This gene is overexpressed in Testis (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TTLL2 Gene



Protein tissue co-expression partners for TTLL2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TTLL2

SOURCE GeneReport for Unigene cluster for TTLL2 Gene:

Hs.520554

mRNA Expression by UniProt/SwissProt for TTLL2 Gene:

Q9BWV7-TTLL2_HUMAN
Tissue specificity: Testis.
genes like me logo Genes that share expression patterns with TTLL2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for TTLL2 Gene

Orthologs for TTLL2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TTLL2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TTLL2 31 30
  • 97.11 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TTLL2 31 30
  • 77.71 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TTLL2 31 30
  • 74.5 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ttll2 17 31 30
  • 71.59 (n)
rat
(Rattus norvegicus)
Mammalia Ttll2 30
  • 70.94 (n)
oppossum
(Monodelphis domestica)
Mammalia TTLL2 31
  • 53 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 2 (a)
ManyToMany
chicken
(Gallus gallus)
Aves TTLL2 31 30
  • 59.99 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TTLL2 31
  • 48 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100497970 30
  • 56.87 (n)
zebrafish
(Danio rerio)
Actinopterygii ttll2 31 30
  • 52.76 (n)
OneToOne
Species where no ortholog for TTLL2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TTLL2 Gene

ENSEMBL:
Gene Tree for TTLL2 (if available)
TreeFam:
Gene Tree for TTLL2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TTLL2: view image

Paralogs for TTLL2 Gene

(1) SIMAP similar genes for TTLL2 Gene using alignment to 2 proteins:

  • TTLL2_HUMAN
  • D6R9R4_HUMAN
genes like me logo Genes that share paralogs with TTLL2: view

Variants for TTLL2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TTLL2 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
rs11540664 - p.Thr127Ala
rs12526094 - p.Gly3Arg
rs12528714 - p.Gln529His
rs34286114 - p.Ile356Val
rs34350976 - p.Pro63Ser

Additional dbSNP identifiers (rs#s) for TTLL2 Gene

Structural Variations from Database of Genomic Variants (DGV) for TTLL2 Gene

Variant ID Type Subtype PubMed ID
dgv11056n54 CNV gain 21841781
dgv3714e59 CNV duplication 20981092
dgv6194n100 CNV gain 25217958
dgv6196n100 CNV gain 25217958
dgv6197n100 CNV loss 25217958
dgv6198n100 CNV gain 25217958
esv24545 CNV gain+loss 19812545
esv2733230 CNV deletion 23290073
esv2759492 CNV gain 17122850
esv2761058 CNV gain 21179565
esv3282385 CNV deletion 24192839
esv33288 CNV loss 17666407
esv34252 CNV gain 17911159
esv3576253 CNV gain 25503493
esv3611649 CNV gain 21293372
esv3611656 CNV loss 21293372
esv3611659 CNV loss 21293372
esv3611660 CNV gain 21293372
nsv1022342 CNV loss 25217958
nsv1024654 CNV loss 25217958
nsv464141 CNV gain 19166990
nsv464145 CNV loss 19166990
nsv470873 CNV gain 18288195
nsv517210 CNV gain+loss 19592680
nsv605338 CNV gain 21841781
nsv605344 CNV loss 21841781
nsv605345 CNV gain 21841781
nsv7389 OTHER inversion 18451855
nsv949893 CNV deletion 24416366

Variation tolerance for TTLL2 Gene

Residual Variation Intolerance Score: 97% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.70; 66.13% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TTLL2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TTLL2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TTLL2 Gene

Disorders for TTLL2 Gene

Additional Disease Information for TTLL2

No disorders were found for TTLL2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TTLL2 Gene

Publications for TTLL2 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  2. Characterization of the human tubulin tyrosine ligase-like 1 gene (TTLL1) mapping to 22q13.1. (PMID: 11054573) Trichet V … De Sario A (Gene 2000) 2 3 54
  3. The HIV-1 Tat protein recruits a ubiquitin ligase to reorganize the 7SK snRNP for transcriptional activation. (PMID: 29845934) Faust TB … Frankel AD (eLife 2018) 3 54
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54
  5. Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. (PMID: 23382691) Lauc G … Rudan I (PLoS genetics 2013) 3 54

Products for TTLL2 Gene

Sources for TTLL2 Gene