Gene Gene information from NCBI Gene database.
Entrez ID 23170
Gene name Tubulin tyrosine ligase like 12
Gene symbol TTLL12
Synonyms (NCBI Gene)
dJ526I14.2
Chromosome 22
Chromosome location 22q13.2
miRNA miRNA information provided by mirtarbase database.
319
miRTarBase ID miRNA Experiments Reference
MIRT025542 hsa-miR-34a-5p Proteomics 21566225
MIRT025922 hsa-miR-7-5p Microarray 19073608
MIRT031972 hsa-miR-16-5p Proteomics 18668040
MIRT032468 hsa-let-7b-5p Proteomics 18668040
MIRT051428 hsa-let-7e-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0002376 Process Immune system process IEA
GO:0004835 Function Tubulin-tyrosine ligase activity IDA 23251473
GO:0005515 Function Protein binding IPI 23251473, 28011935, 28514442, 32296183, 33961781, 35271311
GO:0005524 Function ATP binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
619410 28974 ENSG00000100304
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q14166
Protein name Tubulin--tyrosine ligase-like protein 12 (Inactive tubulin--tyrosine ligase-like protein 12)
Protein function Negatively regulates post-translational modifications of tubulin, including detyrosination of the C-terminus and polyglutamylation of glutamate residues (PubMed:20162578, PubMed:23251473). Also, indirectly promotes histone H4 trimethylation at '
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03133 TTL 346 642 Tubulin-tyrosine ligase family Family
Tissue specificity TISSUE SPECIFICITY: Expressed in the basal layer of prostate and endothelial cells. Increased expression in prostatic intraepithelial neoplasia and metastatic lesions. {ECO:0000269|PubMed:20162578}.
Sequence
MEAERGPERRPAERSSPGQTPEEGAQALAEFAALHGPALRASGVPERYWGRLLHKLEHEV
FDAGEVFGIMQVEEVEEEEDEAAREVRKQQPNPGNELCYKVIVTRESGLQAAHPNSIFLI
DHAWTCRVEHARQQLQQVPGLLHRMANLMGIEFHGELPSTEAVALVLEEMWKFNQTYQLA
HGTAEEKMPVWYIMDEFGSRIQHADVPSFATAPFFYMPQQVAYTLLWPLRDLDTGEEVTR
DFAYGETDPLIRKCMLLPWAPTDMLDLSSCTPEPPAEHYQAILEENKEKLPLDINPVVHP
HGHIFKVYTDVQQVASSLTHPRFTLTQSEADADILFNFSHFKDYRKLSQERPGVLLNQFP
CENLLTVKDCLASIARRAGGPEGPPWLPRTFNLRTELPQFVSYFQQRERWGEDNHWICKP
WNLARSLDTHVTKSLHSIIRHRESTPKVVSKYIESPVLFLREDVGKVKFDIRYIVLLRSV
RPLRLFVYDVFWLRFSNRAFALNDLDDYEKHFTVMNYDPDVVLKQVHCEEFIPEFEKQYP
EFPWTDVQAEIFRAFTELFQVACAKPPPLGLCDYPSSRAMYAVDLMLKWDNGPDGRRVMQ
PQILEVNFNPDCERACRYHPTFFNDVFSTLFLDQPGGCHVTC
LV
Sequence length 644
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Carboxyterminal post-translational modifications of tubulin
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Familial cancer of breast Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Gastric cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Adenocarcinoma of Lung Associate 31514295
★☆☆☆☆
Found in Text Mining only
Colitis Ulcerative Associate 37535606
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Stimulate 37535606
★☆☆☆☆
Found in Text Mining only
Lung Neoplasms Associate 27748896
★☆☆☆☆
Found in Text Mining only
Lymphoma Non Hodgkin Associate 33351778
★☆☆☆☆
Found in Text Mining only
Neoplasm Metastasis Associate 33351778
★☆☆☆☆
Found in Text Mining only
Neoplasms Associate 27748896
★☆☆☆☆
Found in Text Mining only
Prostatic Neoplasms Associate 35075375
★☆☆☆☆
Found in Text Mining only
Stomach Neoplasms Associate 33351778
★☆☆☆☆
Found in Text Mining only