TTLL12
gene geneOn this page
Also known as KIAA0153
Summary
TTLL12 (tubulin tyrosine ligase like 12, HGNC:28974) is a protein-coding gene on chromosome 22q13.2, encoding Tubulin–tyrosine ligase-like protein 12 (Q14166). Negatively regulates post-translational modifications of tubulin, including detyrosination of the C-terminus and polyglutamylation of glutamate residues.
Enables histone H4K20me3 reader activity and tubulin binding activity. Involved in negative regulation of type I interferon-mediated signaling pathway and regulation of mitotic cell cycle. Located in cytosol and plasma membrane.
Source: NCBI Gene 23170 — RefSeq curated summary.
At a glance
- GWAS associations: 5
- Clinical variants (ClinVar): 166 total
- Druggable target: yes
- MANE Select transcript:
NM_015140
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:28974 |
| Approved symbol | TTLL12 |
| Name | tubulin tyrosine ligase like 12 |
| Location | 22q13.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA0153 |
| Ensembl gene | ENSG00000100304 |
| Ensembl biotype | protein_coding |
| OMIM | 619410 |
| Entrez | 23170 |
Gene structure
Transcript identifiers
Ensembl transcripts: 4 — 2 protein_coding, 1 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000216129, ENST00000484118, ENST00000484711, ENST00000494035
RefSeq mRNA: 1 — MANE Select: NM_015140
NM_015140
CCDS: CCDS14047
Canonical transcript exons
ENST00000216129 — 14 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000656781 | 43171819 | 43171900 |
| ENSE00000656788 | 43172403 | 43172554 |
| ENSE00000656795 | 43173715 | 43173826 |
| ENSE00000656799 | 43174209 | 43174403 |
| ENSE00000656801 | 43176320 | 43176396 |
| ENSE00000656803 | 43179619 | 43179752 |
| ENSE00000656805 | 43179841 | 43180000 |
| ENSE00000656812 | 43180742 | 43180940 |
| ENSE00000656820 | 43182980 | 43183149 |
| ENSE00001670000 | 43166622 | 43168159 |
| ENSE00001925503 | 43186893 | 43187134 |
| ENSE00003491460 | 43168774 | 43168912 |
| ENSE00003645093 | 43169500 | 43169568 |
| ENSE00003678619 | 43174499 | 43174615 |
Expression profiles
Bgee: expression breadth ubiquitous, 266 present calls, max score 97.78.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 20.5314 / max 242.9265, expressed in 1790 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 194506 | 20.5209 | 1790 |
| 194505 | 0.0105 | 7 |
Top tissues by expression
290 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| lower esophagus mucosa | UBERON:0035834 | 97.78 | gold quality |
| gingival epithelium | UBERON:0001949 | 97.15 | gold quality |
| esophagus mucosa | UBERON:0002469 | 96.89 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 96.56 | gold quality |
| gingiva | UBERON:0001828 | 96.28 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 94.66 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 94.56 | gold quality |
| squamous epithelium | UBERON:0006914 | 94.42 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 93.93 | gold quality |
| skin of leg | UBERON:0001511 | 92.07 | gold quality |
| skin of abdomen | UBERON:0001416 | 91.96 | gold quality |
| right adrenal gland | UBERON:0001233 | 91.79 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 91.76 | gold quality |
| vagina | UBERON:0000996 | 91.72 | gold quality |
| transverse colon | UBERON:0001157 | 91.58 | gold quality |
| cortical plate | UBERON:0005343 | 91.58 | gold quality |
| left adrenal gland | UBERON:0001234 | 91.30 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 91.30 | gold quality |
| esophagus | UBERON:0001043 | 91.22 | gold quality |
| oral cavity | UBERON:0000167 | 91.06 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 90.99 | gold quality |
| adrenal cortex | UBERON:0001235 | 90.92 | gold quality |
| zone of skin | UBERON:0000014 | 90.75 | gold quality |
| right ovary | UBERON:0002118 | 90.69 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 90.65 | gold quality |
| oviduct epithelium | UBERON:0004804 | 90.52 | gold quality |
| upper leg skin | UBERON:0004262 | 90.25 | gold quality |
| body of stomach | UBERON:0001161 | 90.17 | gold quality |
| right frontal lobe | UBERON:0002810 | 90.15 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 90.11 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 6.26 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
35 targeting TTLL12, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-150-5P | 99.99 | 66.69 | 1976 |
| HSA-MIR-4487 | 99.96 | 64.58 | 1252 |
| HSA-MIR-6783-3P | 99.89 | 67.92 | 2059 |
| HSA-MIR-3919 | 99.87 | 69.45 | 2489 |
| HSA-MIR-629-3P | 99.85 | 67.99 | 1875 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-4713-5P | 99.78 | 67.80 | 1794 |
| HSA-MIR-2116-3P | 99.74 | 64.32 | 889 |
| HSA-MIR-187-5P | 99.74 | 70.26 | 1404 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
| HSA-MIR-377-5P | 99.70 | 65.28 | 712 |
| HSA-MIR-6086 | 99.70 | 65.38 | 699 |
| HSA-MIR-6883-5P | 99.69 | 68.05 | 3785 |
| HSA-MIR-5584-3P | 99.23 | 68.79 | 1351 |
| HSA-MIR-5006-5P | 98.79 | 66.92 | 1246 |
| HSA-MIR-1301-3P | 98.64 | 68.27 | 1071 |
| HSA-MIR-5047 | 98.64 | 68.62 | 1035 |
| HSA-MIR-4710 | 98.61 | 65.96 | 1048 |
| HSA-MIR-3944-5P | 98.50 | 67.55 | 997 |
| HSA-MIR-138-5P | 98.43 | 70.49 | 1292 |
| HSA-MIR-7114-3P | 98.42 | 66.53 | 569 |
| HSA-MIR-4299 | 98.28 | 66.96 | 850 |
| HSA-MIR-1180-5P | 98.16 | 65.32 | 460 |
| HSA-MIR-4660 | 97.79 | 67.44 | 1328 |
| HSA-MIR-558 | 97.50 | 67.16 | 977 |
| HSA-MIR-10398-5P | 97.12 | 64.94 | 1051 |
| HSA-MIR-1913 | 97.07 | 66.20 | 1417 |
| HSA-MIR-5194 | 96.77 | 63.91 | 1021 |
| HSA-MIR-4750-3P | 96.65 | 64.38 | 512 |
Literature-anchored findings (GeneRIF, showing 5)
- Results raise the possibility that TTLL12 could contribute to tumorigenesis through effects on the cytoskeleton, tubulin modification and chromosome number stability. (PMID:20162578)
- results suggest that hTTLL12 has non-catalytic functions related to tubulin and histone modification, which could be linked to its effects on mitosis and chromosome number stability (PMID:23251473)
- A new TTLL12 isoform may be of importance for proper maintenance of lung cancer cells. (PMID:27748896)
- TTLL12 as a negative regulator of RNA-virus-induced type I IFN expression by inhibiting the interaction of VISA with other proteins. (PMID:28011935)
- TTLL12 is required for primary ciliary axoneme formation in polarized epithelial cells. (PMID:38177908)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ttll12 | ENSDARG00000103537 |
| mus_musculus | Ttll12 | ENSMUSG00000016757 |
| rattus_norvegicus | Ttll12 | ENSRNOG00000022623 |
| drosophila_melanogaster | TTLL12 | FBGN0033225 |
| caenorhabditis_elegans | WBGENE00008405 |
Paralogs (12): TTLL1 (ENSG00000100271), TTLL2 (ENSG00000120440), TTLL9 (ENSG00000131044), TTLL4 (ENSG00000135912), TTLL7 (ENSG00000137941), TTLL8 (ENSG00000138892), TTLL10 (ENSG00000162571), TTLL6 (ENSG00000170703), TTLL11 (ENSG00000175764), KPRP (ENSG00000203786), TTLL13 (ENSG00000213471), TTLL3 (ENSG00000214021)
Protein
Protein identifiers
Tubulin–tyrosine ligase-like protein 12 — Q14166 (reviewed: Q14166)
Alternative names: Inactive tubulin–tyrosine ligase-like protein 12
All UniProt accessions (2): Q14166, V9GY16
UniProt curated annotations — full annotation on UniProt →
Function. Negatively regulates post-translational modifications of tubulin, including detyrosination of the C-terminus and polyglutamylation of glutamate residues. Also, indirectly promotes histone H4 trimethylation at ‘Lys-20’ (H4K20me3). Probably by controlling tubulin and/or histone H4 post-translational modifications, plays a role in mitosis and in maintaining chromosome number stability. During RNA virus-mediated infection, acts as a negative regulator of the RIG-I pathway by preventing MAVS binding to TBK1 and IKBKE.
Subunit / interactions. Interacts with MAVS; the interaction prevents MAVS binding to TBK1 and IKBKE. Interacts (via N-terminus) with TBK1 (via protein kinase domain). Interacts (via TTL domain) with IKBKE (via protein kinase domain). Interacts with tubulin alpha. Interacts with histone H3 and histone H4 (when trimethylated at ‘Lys-20’ (H4K20me3)). Interacts with CBX3.
Subcellular location. Cytoplasm. Midbody. Cytoskeleton. Microtubule organizing center. Centrosome. Spindle. Nucleus.
Tissue specificity. Expressed in the basal layer of prostate and endothelial cells. Increased expression in prostatic intraepithelial neoplasia and metastatic lesions.
Similarity. Belongs to the tubulin–tyrosine ligase family.
RefSeq proteins (1): NP_055955* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR004344 | TTL/TTLL_fam | Family |
| IPR027749 | TTLL12 | Family |
| IPR057954 | SET_TTL12 | Domain |
Pfam: PF03133, PF25556
UniProt features (13 total): sequence variant 4, binding site 3, mutagenesis site 2, chain 1, domain 1, region of interest 1, compositionally biased region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q14166-F1 | 91.19 | 0.84 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (3): 450–453; 468; 470
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 244 | decreases expression of ifnb1 mrna following infection with sendai virus. |
| 605 | decreases expression of ifnb1 mrna following infection with sendai virus. |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-8955332 | Carboxyterminal post-translational modifications of tubulin |
MSigDB gene sets: 196 (showing top):
GSE45365_NK_CELL_VS_CD8A_DC_UP, LOPEZ_MESOTHELIOMA_SURVIVAL_DN, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, GOBP_RESPONSE_TO_PEPTIDE, MODULE_45, GOBP_RESPONSE_TO_TYPE_I_INTERFERON, GOBP_NEGATIVE_REGULATION_OF_INNATE_IMMUNE_RESPONSE, MODULE_16, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_NEGATIVE_REGULATION_OF_RESPONSE_TO_BIOTIC_STIMULUS, GOBP_REGULATION_OF_IMMUNE_RESPONSE, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, GOBP_REGULATION_OF_CELL_CYCLE, GOCC_CENTROSOME
GO Biological Process (6): regulation of mitotic cell cycle (GO:0007346), innate immune response (GO:0045087), negative regulation of type I interferon-mediated signaling pathway (GO:0060339), immune system process (GO:0002376), chromatin organization (GO:0006325), protein modification process (GO:0036211)
GO Molecular Function (4): ATP binding (GO:0005524), histone H4K20me2 reader activity (GO:0140005), nucleotide binding (GO:0000166), protein binding (GO:0005515)
GO Cellular Component (8): nucleus (GO:0005634), cytoplasm (GO:0005737), centrosome (GO:0005813), spindle (GO:0005819), cytosol (GO:0005829), plasma membrane (GO:0005886), midbody (GO:0030496), cytoskeleton (GO:0005856)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Post-translational protein modification | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| intracellular membraneless organelle | 2 |
| mitotic cell cycle | 1 |
| regulation of cell cycle | 1 |
| immune response | 1 |
| defense response to symbiont | 1 |
| negative regulation of cytokine-mediated signaling pathway | 1 |
| negative regulation of innate immune response | 1 |
| type I interferon-mediated signaling pathway | 1 |
| regulation of type I interferon-mediated signaling pathway | 1 |
| biological_process | 1 |
| cellular component organization | 1 |
| protein metabolic process | 1 |
| macromolecule modification | 1 |
| adenyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| histone H4 reader activity | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| centriole | 1 |
| microtubule organizing center | 1 |
| microtubule cytoskeleton | 1 |
| cytoplasm | 1 |
| membrane | 1 |
| cell periphery | 1 |
Protein interactions and networks
STRING
966 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TTLL12 | TTLL4 | Q14679 | 709 |
| TTLL12 | TTLL9 | Q3SXZ7 | 665 |
| TTLL12 | TTLL11 | Q8NHH1 | 664 |
| TTLL12 | TTLL1 | O95922 | 609 |
| TTLL12 | TTL | Q8NG68 | 586 |
| TTLL12 | TTLL10 | Q6ZVT0 | 547 |
| TTLL12 | TTLL5 | Q6EMB2 | 483 |
| TTLL12 | ZNF671 | Q8TAW3 | 457 |
| TTLL12 | NUDT14 | O95848 | 453 |
| TTLL12 | SRPRB | Q9Y5M8 | 428 |
| TTLL12 | TTLL7 | Q6ZT98 | 423 |
| TTLL12 | TTLL8 | A6PVC2 | 391 |
| TTLL12 | TMEM53 | Q6P2H8 | 390 |
| TTLL12 | AGTPBP1 | Q9UPW5 | 385 |
| TTLL12 | ATAT1 | Q5SQI0 | 371 |
| TTLL12 | LRRFIP2 | Q9Y608 | 371 |
IntAct
104 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| DNAJB1 | TTLL12 | psi-mi:“MI:0915”(physical association) | 0.800 |
| EEF1A2 | TTLL12 | psi-mi:“MI:0915”(physical association) | 0.800 |
| EEF1A2 | EEF1B2 | psi-mi:“MI:0914”(association) | 0.740 |
| EEF1A1 | TTLL12 | psi-mi:“MI:0915”(physical association) | 0.740 |
| DNAJB4 | DNAJB5 | psi-mi:“MI:0914”(association) | 0.730 |
| DNAJB1 | DNAJB5 | psi-mi:“MI:0914”(association) | 0.640 |
| CD27 | TCAF2 | psi-mi:“MI:0914”(association) | 0.640 |
| PRR35 | TTLL12 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TTLL12 | FAM222B | psi-mi:“MI:0915”(physical association) | 0.560 |
| YWHAG | SHTN1 | psi-mi:“MI:0914”(association) | 0.560 |
| DNAJB4 | SYNM | psi-mi:“MI:0914”(association) | 0.530 |
| EEF1A1 | ZPR1 | psi-mi:“MI:0914”(association) | 0.530 |
| DHX57 | APOD | psi-mi:“MI:0914”(association) | 0.530 |
| EEF1AKMT1 | EEF1A1 | psi-mi:“MI:0914”(association) | 0.530 |
| PBDC1 | EEF1A1 | psi-mi:“MI:0914”(association) | 0.530 |
| EEF1A1 | EEF1B2 | psi-mi:“MI:0914”(association) | 0.530 |
| EEF1AKMT1 | TTLL12 | psi-mi:“MI:0914”(association) | 0.530 |
| DHX57 | HSPA8 | psi-mi:“MI:0914”(association) | 0.530 |
| Ttll12 | DNAJB1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| CSNK2A2 | TTLL12 | psi-mi:“MI:0915”(physical association) | 0.370 |
| OTUB1 | EPM2A | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (163): TTLL12 (Affinity Capture-MS), TTLL12 (Affinity Capture-MS), TTLL12 (Affinity Capture-MS), TTLL12 (Affinity Capture-MS), TTLL12 (Proximity Label-MS), TTLL12 (Proximity Label-MS), TTLL12 (Proximity Label-MS), TTLL12 (Proximity Label-MS), TTLL12 (Proximity Label-MS), TTLL12 (Affinity Capture-MS), TTLL12 (Affinity Capture-MS), TTLL12 (Affinity Capture-MS), TTLL12 (Affinity Capture-MS), TTLL12 (Affinity Capture-MS), TTLL12 (Affinity Capture-MS)
ESM2 similar proteins: A0A1D6K6U5, A0JJZ6, A2X4M8, A2XUN8, A2YQ58, A3ACF3, A5WVX1, A7X657, A7X665, B8BDK0, F1NW29, F4JZC2, O80568, O81893, P40935, Q06AU9, Q08DF7, Q0CF71, Q0D3F2, Q0DCM5, Q0J0B2, Q0J7N5, Q10B19, Q10PI9, Q14166, Q2QMG2, Q3UDE2, Q41771, Q4WD45, Q5VQG4, Q60EJ6, Q654M1, Q69NK8, Q6ET36, Q6K7B8, Q6Z398, Q7XBW0, Q7XK25, Q84J55, Q84Y01
Diamond homologs: A4Q9E4, A4Q9E5, A4Q9F1, A6PVC2, B2GUB3, Q14166, Q1ECV4, Q23FE2, Q23TC2, Q3SZH6, Q3UDE2, Q9BWV7, Q9VM91, Q9VM92, Q9Y4R7, A2APC3, Q23K29, Q5R978, Q6EEF3, Q6EMB2, Q8CHB8, A8XXC0, Q09512, A4Q9F6, A6NNM8, P0CAZ1, P38160, P38584, P38585, Q23SI8, Q3SXZ7, Q564U4, Q641W7, Q8NG68, Q9QXJ0, A4Q9F0, A4Q9E8, A8X9V4, O95922, P0CAZ0
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
166 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 127 |
| Likely benign | 17 |
| Benign | 5 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2507 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 22:43168768:TCTTA:T | donor_loss | 1.0000 |
| 22:43168769:CTTA:C | donor_loss | 1.0000 |
| 22:43168770:TTA:T | donor_loss | 1.0000 |
| 22:43168771:TAC:T | donor_loss | 1.0000 |
| 22:43168772:A:AC | donor_gain | 1.0000 |
| 22:43168772:A:C | donor_loss | 1.0000 |
| 22:43168773:C:CC | donor_gain | 1.0000 |
| 22:43168773:C:CG | donor_loss | 1.0000 |
| 22:43168773:CCAT:C | donor_gain | 1.0000 |
| 22:43168909:CAGC:C | acceptor_gain | 1.0000 |
| 22:43168912:CCT:C | acceptor_loss | 1.0000 |
| 22:43168913:C:CC | acceptor_gain | 1.0000 |
| 22:43168914:T:A | acceptor_loss | 1.0000 |
| 22:43169496:TTA:T | donor_loss | 1.0000 |
| 22:43169497:TA:T | donor_loss | 1.0000 |
| 22:43169498:A:AC | donor_gain | 1.0000 |
| 22:43169498:A:C | donor_loss | 1.0000 |
| 22:43169499:C:CC | donor_gain | 1.0000 |
| 22:43169499:C:CT | donor_loss | 1.0000 |
| 22:43169564:TGCAC:T | acceptor_gain | 1.0000 |
| 22:43169566:CAC:C | acceptor_gain | 1.0000 |
| 22:43169567:AC:A | acceptor_gain | 1.0000 |
| 22:43169568:CC:C | acceptor_gain | 1.0000 |
| 22:43169569:C:CC | acceptor_gain | 1.0000 |
| 22:43169569:CTGCA:C | acceptor_loss | 1.0000 |
| 22:43169570:T:G | acceptor_loss | 1.0000 |
| 22:43171813:CCCTA:C | donor_loss | 1.0000 |
| 22:43171814:CCTAC:C | donor_loss | 1.0000 |
| 22:43171815:CTA:C | donor_loss | 1.0000 |
| 22:43171816:TACC:T | donor_loss | 1.0000 |
AlphaMissense
4254 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 22:43173799:C:A | K419N | 0.998 |
| 22:43173799:C:G | K419N | 0.998 |
| 22:43168122:G:C | N607K | 0.997 |
| 22:43168122:G:T | N607K | 0.997 |
| 22:43168806:T:A | D584V | 0.996 |
| 22:43168806:T:G | D584A | 0.996 |
| 22:43168816:A:C | Y581D | 0.996 |
| 22:43174334:C:A | K368N | 0.996 |
| 22:43174334:C:G | K368N | 0.996 |
| 22:43168805:G:C | D584E | 0.995 |
| 22:43168805:G:T | D584E | 0.995 |
| 22:43173801:T:C | K419E | 0.995 |
| 22:43174565:A:G | F323S | 0.995 |
| 22:43168119:G:C | F608L | 0.994 |
| 22:43168119:G:T | F608L | 0.994 |
| 22:43168121:A:G | F608L | 0.994 |
| 22:43168803:A:G | L585P | 0.994 |
| 22:43168812:G:T | A582D | 0.994 |
| 22:43168822:C:G | A579P | 0.994 |
| 22:43169514:A:G | W544R | 0.994 |
| 22:43169514:A:T | W544R | 0.994 |
| 22:43173810:A:G | W416R | 0.994 |
| 22:43173810:A:T | W416R | 0.994 |
| 22:43180918:A:G | W124R | 0.994 |
| 22:43180918:A:T | W124R | 0.994 |
| 22:43168114:G:T | P610H | 0.993 |
| 22:43168129:T:A | E605V | 0.993 |
| 22:43168806:T:C | D584G | 0.993 |
| 22:43168807:C:G | D584H | 0.993 |
| 22:43171846:G:C | N516K | 0.993 |
dbSNP variants (sampled 300 via entrez): RS1000009589 (22:43170537 T>G), RS1000120986 (22:43170042 C>T), RS1000148118 (22:43175825 A>C), RS1000268178 (22:43184065 G>A), RS1000313251 (22:43166622 T>C), RS1000441759 (22:43172502 C>T), RS1000594006 (22:43176539 G>A), RS1000724992 (22:43180687 G>A,C,T), RS1000741086 (22:43186905 C>G,T), RS1000793608 (22:43187072 C>T), RS1000834103 (22:43184987 C>A,G), RS1001102176 (22:43167529 T>G), RS1001175425 (22:43175835 A>C,G), RS1001252571 (22:43174904 G>A,T), RS1001314667 (22:43178372 A>G)
Disease associations
OMIM: gene MIM:619410 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
5 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002114_5 | Molar-incisor hypomineralization | 4.000000e-07 |
| GCST004625_197 | Monocyte count | 4.000000e-22 |
| GCST90002393_593 | Monocyte count | 6.000000e-43 |
| GCST90002400_513 | Plateletcrit | 1.000000e-14 |
| GCST90002402_652 | Platelet count | 2.000000e-12 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005321 | molar-incisor hypomineralization |
| EFO:0005091 | monocyte count |
| EFO:0007985 | platelet crit |
| EFO:0004309 | platelet count |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6066513 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 5.10 | Kd | 7967 | nM | CHEMBL5653589 |
| 5.10 | ED50 | 7967 | nM | CHEMBL5653589 |
PubChem BioAssay actives
1 with measured affinity, of 2 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2149672: Binding affinity to human TTLL12 incubated for 45 mins by Kinobead based pull down assay | kd | 7.9669 | uM |
CTD chemical–gene interactions
60 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects binding, increases reaction, decreases expression, affects cotreatment, increases abundance (+1 more) | 5 |
| Valproic Acid | affects expression, increases expression, increases methylation | 3 |
| bisphenol A | decreases expression, increases expression | 2 |
| cobaltous chloride | decreases expression | 2 |
| Air Pollutants | increases abundance, increases expression, decreases expression | 2 |
| Arsenic | increases abundance, increases expression, affects methylation, affects cotreatment | 2 |
| Smoke | increases abundance, increases expression, decreases expression | 2 |
| Tretinoin | decreases expression | 2 |
| Cadmium Chloride | decreases expression, increases expression | 2 |
| Particulate Matter | increases abundance, affects cotreatment, increases expression, decreases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| GSK-J4 | decreases expression | 1 |
| dicrotophos | increases expression | 1 |
| pyrogallol 1,3-dimethyl ether | affects cotreatment, affects localization, decreases expression, increases expression | 1 |
| decabromobiphenyl ether | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| tetrabromobisphenol A | decreases expression | 1 |
| zinc chromate | decreases expression, increases abundance | 1 |
| manganese chloride | increases expression, affects cotreatment, increases abundance | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| chromium hexavalent ion | decreases expression, increases abundance | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| abrine | decreases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | decreases expression | 1 |
| pentabrominated diphenyl ether 100 | decreases expression | 1 |
| hexabrominated diphenyl ether 153 | decreases expression | 1 |
| bisphenol S | increases expression | 1 |
| LDN 193189 | affects cotreatment, decreases expression | 1 |
| NSC 689534 | affects binding, decreases expression | 1 |
| Temozolomide | increases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5652714 | Binding | Binding affinity to human TTLL12 incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
Cellosaurus cell lines
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B3K9 | Abcam HEK293T TTLL12 KO | Transformed cell line | Female |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.