TTLL7
gene geneOn this page
Also known as FLJ23033
Summary
TTLL7 (tubulin tyrosine ligase like 7, HGNC:26242) is a protein-coding gene on chromosome 1p31.1, encoding Tubulin polyglutamylase TTLL7 (Q6ZT98). Polyglutamylase which modifies tubulin, generating polyglutamate side chains of variable lengths on the gamma-carboxyl group of specific glutamate residues within the C-terminal tail of tubulin.
Enables alpha-tubulin binding activity; beta-tubulin binding activity; and tubulin-glutamic acid ligase activity. Involved in protein polyglutamylation. Predicted to be located in 9+0 non-motile cilium. Predicted to be active in ciliary basal body.
Source: NCBI Gene 79739 — RefSeq curated summary.
At a glance
- GWAS associations: 13
- Clinical variants (ClinVar): 100 total
- MANE Select transcript:
NM_024686
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:26242 |
| Approved symbol | TTLL7 |
| Name | tubulin tyrosine ligase like 7 |
| Location | 1p31.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ23033 |
| Ensembl gene | ENSG00000137941 |
| Ensembl biotype | protein_coding |
| OMIM | 618813 |
| Entrez | 79739 |
Gene structure
Transcript identifiers
Ensembl transcripts: 16 — 9 protein_coding_CDS_not_defined, 4 protein_coding, 3 nonsense_mediated_decay
ENST00000260505, ENST00000464289, ENST00000467670, ENST00000472688, ENST00000472937, ENST00000474702, ENST00000474957, ENST00000477524, ENST00000480174, ENST00000480533, ENST00000482783, ENST00000485638, ENST00000488014, ENST00000610996, ENST00000865825, ENST00000865826
RefSeq mRNA: 3 — MANE Select: NM_024686
NM_001350214, NM_001350215, NM_024686
CCDS: CCDS690
Canonical transcript exons
ENST00000260505 — 21 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001932342 | 83998931 | 83999132 |
| ENSE00003466131 | 83951845 | 83951976 |
| ENSE00003468184 | 83929136 | 83929230 |
| ENSE00003468796 | 83917604 | 83917690 |
| ENSE00003489651 | 83907456 | 83907661 |
| ENSE00003495701 | 83890321 | 83890481 |
| ENSE00003508224 | 83919699 | 83919834 |
| ENSE00003521378 | 83882963 | 83883136 |
| ENSE00003531455 | 83921087 | 83921160 |
| ENSE00003536086 | 83942463 | 83942679 |
| ENSE00003568295 | 83937852 | 83938016 |
| ENSE00003572029 | 83949865 | 83949986 |
| ENSE00003575975 | 83904079 | 83904159 |
| ENSE00003582668 | 83911165 | 83911363 |
| ENSE00003591056 | 83947124 | 83947282 |
| ENSE00003613828 | 83952187 | 83952387 |
| ENSE00003624541 | 83921247 | 83921394 |
| ENSE00003647112 | 83906329 | 83906463 |
| ENSE00003650528 | 83865024 | 83870082 |
| ENSE00003663958 | 83948628 | 83948695 |
| ENSE00003682038 | 83933608 | 83933766 |
Expression profiles
Bgee: expression breadth ubiquitous, 234 present calls, max score 97.81.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 19.8280 / max 726.3804, expressed in 1356 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 12970 | 19.6926 | 1354 |
| 12967 | 0.0799 | 18 |
| 12968 | 0.0555 | 28 |
Top tissues by expression
285 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| corpus callosum | UBERON:0002336 | 97.81 | gold quality |
| endothelial cell | CL:0000115 | 97.71 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 96.05 | gold quality |
| postcentral gyrus | UBERON:0002581 | 95.16 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 94.83 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 94.46 | gold quality |
| primary visual cortex | UBERON:0002436 | 94.32 | gold quality |
| parietal lobe | UBERON:0001872 | 94.10 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 93.67 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 93.42 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 93.35 | gold quality |
| pons | UBERON:0000988 | 93.14 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 93.03 | gold quality |
| right coronary artery | UBERON:0001625 | 93.01 | gold quality |
| occipital lobe | UBERON:0002021 | 92.90 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 92.59 | gold quality |
| Ammon’s horn | UBERON:0001954 | 92.56 | gold quality |
| globus pallidus | UBERON:0001875 | 92.43 | gold quality |
| spinal cord | UBERON:0002240 | 92.38 | gold quality |
| entorhinal cortex | UBERON:0002728 | 92.34 | gold quality |
| popliteal artery | UBERON:0002250 | 92.21 | gold quality |
| tibial artery | UBERON:0007610 | 92.19 | gold quality |
| medial globus pallidus | UBERON:0002477 | 91.96 | gold quality |
| aorta | UBERON:0000947 | 91.88 | gold quality |
| blood vessel layer | UBERON:0004797 | 91.67 | gold quality |
| thoracic aorta | UBERON:0001515 | 91.56 | gold quality |
| ascending aorta | UBERON:0001496 | 91.51 | gold quality |
| prefrontal cortex | UBERON:0000451 | 91.39 | gold quality |
| cortical plate | UBERON:0005343 | 91.27 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 91.24 | gold quality |
Single-cell (SCXA)
Detected in 6 experiment(s), a significant marker in 5.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-35 | yes | 2872.32 |
| E-HCAD-25 | yes | 51.93 |
| E-GEOD-84465 | yes | 12.03 |
| E-HCAD-11 | yes | 7.64 |
| E-ANND-3 | yes | 6.34 |
| E-GEOD-180759 | no | 2084.54 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
81 targeting TTLL7, 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-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-1184 | 99.99 | 68.19 | 1458 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-103A-3P | 99.98 | 69.14 | 1595 |
| HSA-MIR-107 | 99.98 | 69.14 | 1595 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-23A-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23B-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23C | 99.95 | 73.92 | 3192 |
| HSA-MIR-545-3P | 99.95 | 70.74 | 2783 |
| HSA-MIR-141-3P | 99.94 | 72.79 | 2421 |
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ttll7 | ENSDARG00000062973 |
| mus_musculus | Ttll7 | ENSMUSG00000036745 |
| rattus_norvegicus | Ttll7 | ENSRNOG00000031997 |
Paralogs (12): TTLL1 (ENSG00000100271), TTLL12 (ENSG00000100304), TTLL2 (ENSG00000120440), TTLL9 (ENSG00000131044), TTLL4 (ENSG00000135912), TTLL8 (ENSG00000138892), TTLL10 (ENSG00000162571), TTLL6 (ENSG00000170703), TTLL11 (ENSG00000175764), KPRP (ENSG00000203786), TTLL13 (ENSG00000213471), TTLL3 (ENSG00000214021)
Protein
Protein identifiers
Tubulin polyglutamylase TTLL7 — Q6ZT98 (reviewed: Q6ZT98)
Alternative names: Testis development protein NYD-SP30, Tubulin–tyrosine ligase-like protein 7
All UniProt accessions (4): Q6ZT98, A0A087X234, F2Z2J7, F2Z2X2
UniProt curated annotations — full annotation on UniProt →
Function. Polyglutamylase which modifies tubulin, generating polyglutamate side chains of variable lengths on the gamma-carboxyl group of specific glutamate residues within the C-terminal tail of tubulin. Mediates both ATP-dependent initiation and elongation steps of the polyglutamylation reaction. Preferentially modifies the beta-tubulin tail over an alpha-tail. Competes with monoglycylase TTLL3 for modification site on beta-tubulin substrate, thereby creating an anticorrelation between glycylation and glutamylation reactions. Required for neurite growth; responsible for the strong increase in tubulin polyglutamylation during postnatal neuronal maturation.
Subunit / interactions. Interacts with both alpha- and beta-tubulin (via C-terminal tubulin tails).
Subcellular location. Cell projection. Cilium. Cytoplasm. Cytoskeleton. Cilium basal body. Dendrite. Perikaryon.
Tissue specificity. Highly expressed in the nervous system including spinal cord, thalamus, hippocampus, hypothalamus and cerebellum.
Domain organisation. The enzyme uses its core to engage the disordered anionic tails of alpha- and beta-tubulin and the flexible c-MTBD (cationic microtubule binding domain) region to bind the microtubule and position itself for beta-tail modification. The c-MTBD region is positively charged and becomes ordered when bound to microtubules: it interacts with a negatively charged patch on alpha-tubulin. The presence of positive charges in the c-MTBD region is essential for proper binding.
Similarity. Belongs to the tubulin–tyrosine ligase family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q6ZT98-1 | 1 | yes |
| Q6ZT98-2 | 2 | |
| Q6ZT98-3 | 3 |
RefSeq proteins (3): NP_001337143, NP_001337144, NP_078962* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR004344 | TTL/TTLL_fam | Family |
Pfam: PF03133
Enzyme classification (BRENDA):
- EC 6.3.2.B24 — (BRENDA: organisms, substrates, inhibitors, Km, kcat entries)
Catalyzed reactions (Rhea), 2 shown:
- L-glutamyl-[protein] + L-glutamate + ATP = gamma-L-glutamyl-L-glutamyl-[protein] + ADP + phosphate + H(+) (RHEA:60144)
- (L-glutamyl)(n)-gamma-L-glutamyl-L-glutamyl-[protein] + L-glutamate + ATP = (L-glutamyl)(n+1)-gamma-L-glutamyl-L-glutamyl-[protein] + ADP + phosphate + H(+) (RHEA:60148)
UniProt features (77 total): strand 15, binding site 14, mutagenesis site 12, helix 9, sequence conflict 8, region of interest 4, splice variant 4, turn 4, compositionally biased region 3, site 2, chain 1, domain 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 4YLR | X-RAY DIFFRACTION | 2.55 |
| 4YLS | X-RAY DIFFRACTION | 2.6 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6ZT98-F1 | 72.54 | 0.34 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (2): 106 (binds negatively charged residues of beta-tubulin c-terminal tails); 352 (binds negatively charged residues of beta-tubulin c-terminal tails)
Ligand- & substrate-binding residues (14): 166–167; 188–191; 201–203; 227; 249–250; 251; 252; 271; 336; 349; 349; 351 …
Mutagenesis-validated functional residues (12):
| Position | Phenotype |
|---|---|
| 106 | nearly abolished polyglutamylase activity. |
| 143–146 | 70% decreased polyglutamylase activity. |
| 178 | decreased polyglutamylase activity. |
| 205 | nearly abolished polyglutamylase activity. |
| 227 | nearly abolished polyglutamylase activity. |
| 271 | nearly abolished polyglutamylase activity. |
| 349 | loss of polyglutamylase activity. |
| 352 | nearly abolished polyglutamylase activity. |
| 385–393 | 45% decreased binding to microtubules. decreased polyglutamylase activity. 76% decreased binding to microtubules; when a |
| 425–427 | 76% decreased binding to microtubules; when associated with 385-e–e-393. |
| 477–480 | 40% decreased polyglutamylase activity. |
| 490–500 | 69% decreased polyglutamylase activity. |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-8955332 | Carboxyterminal post-translational modifications of tubulin |
MSigDB gene sets: 162 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_UP, BENPORATH_ES_WITH_H3K27ME3, FISCHER_G1_S_CELL_CYCLE, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, CAGCTG_AP4_Q5, GOCC_MICROTUBULE_ORGANIZING_CENTER, LIAO_METASTASIS, TGANTCA_AP1_C, GOBP_PEPTIDYL_GLUTAMIC_ACID_MODIFICATION, GOMF_LIGASE_ACTIVITY_FORMING_CARBON_NITROGEN_BONDS, GOMF_ACID_AMINO_ACID_LIGASE_ACTIVITY, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, TGTTTAC_MIR30A5P_MIR30C_MIR30D_MIR30B_MIR30E5P, GOCC_NEURON_PROJECTION, CUI_TCF21_TARGETS_2_DN
GO Biological Process (5): microtubule cytoskeleton organization (GO:0000226), nervous system development (GO:0007399), protein polyglutamylation (GO:0018095), cell differentiation (GO:0030154), protein modification process (GO:0036211)
GO Molecular Function (10): ATP binding (GO:0005524), tubulin binding (GO:0015631), alpha-tubulin binding (GO:0043014), metal ion binding (GO:0046872), beta-tubulin binding (GO:0048487), tubulin-glutamic acid ligase activity (GO:0070740), protein-glutamic acid ligase activity, initiating (GO:0106437), protein-glutamic acid ligase activity, elongating (GO:0106438), nucleotide binding (GO:0000166), ligase activity (GO:0016874)
GO Cellular Component (9): cytosol (GO:0005829), microtubule (GO:0005874), dendrite (GO:0030425), ciliary basal body (GO:0036064), perikaryon (GO:0043204), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), cilium (GO:0005929), cell projection (GO:0042995)
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 | 4 |
| protein-glutamic acid ligase activity | 3 |
| tubulin binding | 2 |
| cytoskeleton organization | 1 |
| microtubule-based process | 1 |
| system development | 1 |
| peptidyl-glutamic acid modification | 1 |
| cellular developmental process | 1 |
| protein metabolic process | 1 |
| macromolecule modification | 1 |
| adenyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| cytoskeletal protein binding | 1 |
| cation binding | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| catalytic activity | 1 |
| cytoplasm | 1 |
| microtubule cytoskeleton | 1 |
| polymeric cytoskeletal fiber | 1 |
| neuron projection | 1 |
| dendritic tree | 1 |
| microtubule organizing center | 1 |
| cilium | 1 |
| neuronal cell body | 1 |
| intracellular anatomical structure | 1 |
| intracellular membraneless organelle | 1 |
| intraciliary transport particle | 1 |
| membrane-bounded organelle | 1 |
| plasma membrane bounded cell projection | 1 |
Protein interactions and networks
STRING
598 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TTLL7 | TTLL3 | Q9Y4R7 | 596 |
| TTLL7 | AGBL4 | Q5VU57 | 531 |
| TTLL7 | CPXM2 | Q8N436 | 505 |
| TTLL7 | TTLL5 | Q6EMB2 | 501 |
| TTLL7 | ATAT1 | Q5SQI0 | 496 |
| TTLL7 | SVBP | Q8N300 | 482 |
| TTLL7 | ZNF142 | P52746 | 461 |
| TTLL7 | DRC8 | Q5VUJ9 | 457 |
| TTLL7 | SPAST | Q9UBP0 | 447 |
| TTLL7 | AGTPBP1 | Q9UPW5 | 440 |
| TTLL7 | WDR64 | B1ANS9 | 433 |
| TTLL7 | DYNC1I1 | O14576 | 433 |
| TTLL7 | AGBL5 | Q8NDL9 | 431 |
| TTLL7 | PLEKHG1 | Q9ULL1 | 431 |
| TTLL7 | HECW1 | Q76N89 | 424 |
IntAct
10 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| YWHAH | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.610 |
| TTLL7 | ANXA2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| MEF2A | REV3L | psi-mi:“MI:0914”(association) | 0.350 |
| CUL4B | APBB1 | psi-mi:“MI:0914”(association) | 0.350 |
| YWHAG | C1orf226 | psi-mi:“MI:0914”(association) | 0.350 |
| YWHAE | DEPDC5 | psi-mi:“MI:0914”(association) | 0.350 |
| YWHAG | FOXO6 | psi-mi:“MI:0914”(association) | 0.350 |
| TTLL7 | CSNK2A2 | psi-mi:“MI:0914”(association) | 0.350 |
| EBAG9 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (19): TTLL7 (Two-hybrid), TTLL7 (Reconstituted Complex), TTLL7 (Affinity Capture-MS), CSNK2A2 (Affinity Capture-MS), ZMYM1 (Affinity Capture-MS), CSNK2A1 (Affinity Capture-MS), TTLL7 (Affinity Capture-RNA), LMO4 (Two-hybrid), TTLL7 (Proximity Label-MS), ZMYM1 (Affinity Capture-MS), CSNK2A1 (Affinity Capture-MS), CSNK2A2 (Affinity Capture-MS), TTLL7 (Affinity Capture-MS), YWHAH (Affinity Capture-MS), TTLL7 (Affinity Capture-MS)
ESM2 similar proteins: A2AD83, A4Q9F0, A6QP06, A7KAX9, B2RYE5, B4K6T8, F7E540, G5EEW9, O00443, O13839, O43283, O96838, P11171, P11434, P48193, Q12923, Q14693, Q22744, Q3V0G7, Q5FVG2, Q5R8N8, Q5R8X7, Q5RAY1, Q61194, Q64512, Q6DTM3, Q6GPD0, Q6Q7P4, Q6ZT98, Q6ZUT3, Q811P8, Q8BGS1, Q8BPQ7, Q8CHB8, Q8K3Y6, Q8WYB5, Q91573, Q91ZP3, Q96HH9, Q99PI5
Diamond homologs: A2APC3, A4Q9E4, A4Q9E5, A4Q9E8, A4Q9F0, A4Q9F1, A4Q9F4, A4Q9F6, A6NNM8, A6PVC2, A8CVX7, A8X9V4, B2GUB3, E9P886, F7E540, H2KZM9, O95922, P38160, P38584, Q09647, Q0VC71, Q14679, Q1ECV4, Q23AS2, Q23K29, Q23MT7, Q23SI8, Q3SXZ7, Q3SZH6, Q564U4, Q5PPI9, Q5R978, Q641W7, Q6EEF3, Q6EMB2, Q6ZT98, Q80UG8, Q8CHB8, Q8N841, Q8NG68
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
100 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 91 |
| Likely benign | 3 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
4392 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:83890319:A:AC | donor_gain | 1.0000 |
| 1:83890319:AC:A | donor_gain | 1.0000 |
| 1:83890320:C:CC | donor_gain | 1.0000 |
| 1:83890320:CC:C | donor_gain | 1.0000 |
| 1:83902152:A:AC | donor_gain | 1.0000 |
| 1:83902153:C:CC | donor_gain | 1.0000 |
| 1:83904070:ATTAC:A | donor_loss | 1.0000 |
| 1:83904071:TTACT:T | donor_loss | 1.0000 |
| 1:83904072:TAC:T | donor_loss | 1.0000 |
| 1:83904073:AC:A | donor_loss | 1.0000 |
| 1:83904075:T:TA | donor_loss | 1.0000 |
| 1:83904076:CACT:C | donor_loss | 1.0000 |
| 1:83904077:A:AC | donor_gain | 1.0000 |
| 1:83904077:ACTTT:A | donor_loss | 1.0000 |
| 1:83904078:C:CC | donor_gain | 1.0000 |
| 1:83904078:CTTTT:C | donor_gain | 1.0000 |
| 1:83906323:A:AC | donor_gain | 1.0000 |
| 1:83906323:ACTC:A | donor_loss | 1.0000 |
| 1:83906324:C:CC | donor_gain | 1.0000 |
| 1:83906324:CTCA:C | donor_gain | 1.0000 |
| 1:83906325:TCACA:T | donor_loss | 1.0000 |
| 1:83906326:CACAT:C | donor_loss | 1.0000 |
| 1:83906327:A:AC | donor_gain | 1.0000 |
| 1:83906327:ACAT:A | donor_gain | 1.0000 |
| 1:83906328:C:CC | donor_gain | 1.0000 |
| 1:83906328:C:CG | donor_loss | 1.0000 |
| 1:83906328:CA:C | donor_gain | 1.0000 |
| 1:83906328:CAT:C | donor_gain | 1.0000 |
| 1:83906328:CATC:C | donor_gain | 1.0000 |
| 1:83906328:CATCT:C | donor_gain | 1.0000 |
AlphaMissense
5847 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:83929177:T:A | K367N | 1.000 |
| 1:83929177:T:G | K367N | 1.000 |
| 1:83929178:T:A | K367I | 1.000 |
| 1:83929213:G:C | S355R | 1.000 |
| 1:83929213:G:T | S355R | 1.000 |
| 1:83929215:T:G | S355R | 1.000 |
| 1:83929217:G:C | P354R | 1.000 |
| 1:83929217:G:T | P354Q | 1.000 |
| 1:83929225:G:C | N351K | 1.000 |
| 1:83929225:G:T | N351K | 1.000 |
| 1:83929227:T:C | N351D | 1.000 |
| 1:83933608:C:A | E349D | 1.000 |
| 1:83933608:C:G | E349D | 1.000 |
| 1:83933609:T:A | E349V | 1.000 |
| 1:83933609:T:G | E349A | 1.000 |
| 1:83933610:C:T | E349K | 1.000 |
| 1:83933612:A:G | L348P | 1.000 |
| 1:83933615:A:T | L347H | 1.000 |
| 1:83933647:A:C | D336E | 1.000 |
| 1:83933647:A:T | D336E | 1.000 |
| 1:83933648:T:A | D336V | 1.000 |
| 1:83933648:T:C | D336G | 1.000 |
| 1:83933648:T:G | D336A | 1.000 |
| 1:83933649:C:G | D336H | 1.000 |
| 1:83933654:C:T | G334E | 1.000 |
| 1:83933655:C:G | G334R | 1.000 |
| 1:83933655:C:T | G334R | 1.000 |
| 1:83933657:A:G | L333P | 1.000 |
| 1:83933668:G:C | C329W | 1.000 |
| 1:83933726:A:T | V310D | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000031122 (1:83931478 C>T), RS1000079438 (1:83877421 G>A), RS1000085318 (1:83884868 T>TACA), RS1000088210 (1:83898398 T>A), RS1000150735 (1:83986647 C>A,T), RS1000170868 (1:83911182 T>C), RS1000182287 (1:83986477 G>A), RS1000182349 (1:83942157 T>C,G), RS1000191589 (1:83893247 T>G), RS1000230596 (1:83927863 T>C,G), RS1000312786 (1:83935310 T>C), RS1000321924 (1:83871449 G>A,C), RS1000323936 (1:83934822 G>C,T), RS1000357801 (1:83981157 C>A), RS1000395564 (1:83967766 T>C)
Disease associations
OMIM: gene MIM:618813 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
13 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000484_2 | Alzheimer’s disease | 1.000000e-06 |
| GCST001692_14 | Response to taxane treatment (docetaxel) | 2.000000e-06 |
| GCST001762_457 | Obesity-related traits | 7.000000e-06 |
| GCST001762_464 | Obesity-related traits | 8.000000e-06 |
| GCST002671_1 | Toenail selenium levels | 9.000000e-06 |
| GCST002783_42 | Body mass index | 2.000000e-06 |
| GCST003124_13 | Mild influenza (H1N1) infection | 1.000000e-09 |
| GCST006069_68 | Time-dependent creatinine clearance change response to tenofovir treatment in HIV infection (time and treatment arm interaction) | 2.000000e-06 |
| GCST006073_10 | Tenofovir clearance in HIV infection | 8.000000e-06 |
| GCST007324_50 | Adventurousness | 5.000000e-08 |
| GCST007325_185 | General risk tolerance (MTAG) | 1.000000e-08 |
| GCST008550_14 | Mental health study participation (completed survey) | 7.000000e-09 |
| GCST010988_244 | Adult body size | 9.000000e-10 |
EFO canonical traits (6, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004736 | aspartate aminotransferase measurement |
| EFO:0004340 | body mass index |
| EFO:1001488 | influenza A (H1N1) |
| EFO:0007934 | creatinine clearance measurement |
| EFO:0008579 | risk-taking behaviour |
| EFO:0010130 | health study participation |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
40 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, increases expression | 4 |
| Nickel | decreases expression | 2 |
| Cyclosporine | increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| tungsten carbide | affects binding, decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| pirinixic acid | affects binding, increases activity, increases expression | 1 |
| trichostatin A | affects expression | 1 |
| beta-lapachone | decreases expression | 1 |
| sodium arsenite | increases expression | 1 |
| cobaltous chloride | increases expression | 1 |
| potassium chromate(VI) | decreases expression | 1 |
| nickel sulfate | decreases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| monomethylarsonous acid | increases expression | 1 |
| 2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide | increases expression | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| NSC 689534 | affects binding, increases expression | 1 |
| Temozolomide | increases expression | 1 |
| Arsenic Trioxide | affects cotreatment, increases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Benzo(a)pyrene | affects methylation, increases methylation | 1 |
| Cisplatin | affects cotreatment, decreases expression | 1 |
| Cobalt | affects binding, decreases expression | 1 |
| Copper | increases expression, affects binding | 1 |
| Doxorubicin | decreases expression | 1 |
| Estradiol | affects cotreatment, increases expression | 1 |
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.