LRRC49
gene geneOn this page
Also known as FLJ20156CSTPP2PGs4
Summary
LRRC49 (leucine rich repeat containing 49, HGNC:25965) is a protein-coding gene on chromosome 15q23, encoding Leucine-rich repeat-containing protein 49 (Q8IUZ0). Subunit of the tubulin polyglutamylase complex (TPGC).
Located in centriolar satellite.
Source: NCBI Gene 54839 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 138 total
- MANE Select transcript:
NM_017691
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25965 |
| Approved symbol | LRRC49 |
| Name | leucine rich repeat containing 49 |
| Location | 15q23 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ20156, CSTPP2, PGs4 |
| Ensembl gene | ENSG00000137821 |
| Ensembl biotype | protein_coding |
| OMIM | 620497 |
| Entrez | 54839 |
Gene structure
Transcript identifiers
Ensembl transcripts: 30 — 14 protein_coding, 6 protein_coding_CDS_not_defined, 6 nonsense_mediated_decay, 4 retained_intron
ENST00000260382, ENST00000436542, ENST00000443425, ENST00000544974, ENST00000557977, ENST00000558032, ENST00000558137, ENST00000558204, ENST00000558271, ENST00000558456, ENST00000558546, ENST00000558799, ENST00000558808, ENST00000559069, ENST00000559201, ENST00000559422, ENST00000559469, ENST00000559670, ENST00000559685, ENST00000559806, ENST00000560107, ENST00000560158, ENST00000560369, ENST00000560691, ENST00000560755, ENST00000560980, ENST00000561081, ENST00000561131, ENST00000561285, ENST00000906574
RefSeq mRNA: 5 — MANE Select: NM_017691
NM_001199017, NM_001199018, NM_001284357, NM_001363732, NM_017691
CCDS: CCDS32282, CCDS55971, CCDS58376, CCDS61694, CCDS86472
Canonical transcript exons
ENST00000260382 — 16 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000931728 | 70892826 | 70892942 |
| ENSE00003465211 | 70911532 | 70911598 |
| ENSE00003471920 | 70904552 | 70904755 |
| ENSE00003491496 | 70936761 | 70936822 |
| ENSE00003498654 | 71009807 | 71009992 |
| ENSE00003498965 | 71037179 | 71037332 |
| ENSE00003504587 | 70984094 | 70984257 |
| ENSE00003515698 | 71012804 | 71012913 |
| ENSE00003558368 | 70980101 | 70980184 |
| ENSE00003574713 | 70893584 | 70893640 |
| ENSE00003602743 | 71008379 | 71008616 |
| ENSE00003662018 | 70919050 | 70919193 |
| ENSE00003664256 | 70895849 | 70895936 |
| ENSE00003682275 | 70963785 | 70963932 |
| ENSE00003686304 | 70900922 | 70901024 |
| ENSE00003902217 | 71049409 | 71053658 |
Expression profiles
Bgee: expression breadth ubiquitous, 252 present calls, max score 96.41.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.3480 / max 406.6553, expressed in 1326 samples.
FANTOM5 promoters (10 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 147500 | 6.7738 | 973 |
| 147497 | 1.3805 | 398 |
| 147499 | 1.0863 | 611 |
| 147496 | 0.8281 | 312 |
| 147498 | 0.8122 | 423 |
| 147503 | 0.1421 | 56 |
| 147501 | 0.1217 | 39 |
| 147504 | 0.0958 | 34 |
| 147507 | 0.0860 | 39 |
| 147502 | 0.0215 | 9 |
Top tissues by expression
284 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cortical plate | UBERON:0005343 | 96.41 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 95.50 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 95.42 | gold quality |
| heart right ventricle | UBERON:0002080 | 95.14 | gold quality |
| bronchial epithelial cell | CL:0002328 | 94.15 | gold quality |
| myocardium | UBERON:0002349 | 94.02 | gold quality |
| ganglionic eminence | UBERON:0004023 | 93.80 | gold quality |
| ventricular zone | UBERON:0003053 | 93.74 | gold quality |
| apex of heart | UBERON:0002098 | 93.56 | gold quality |
| cardiac ventricle | UBERON:0002082 | 93.21 | gold quality |
| heart left ventricle | UBERON:0002084 | 93.18 | gold quality |
| epithelium of bronchus | UBERON:0002031 | 92.86 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 92.81 | gold quality |
| primary visual cortex | UBERON:0002436 | 92.29 | gold quality |
| calcaneal tendon | UBERON:0003701 | 92.11 | gold quality |
| bronchus | UBERON:0002185 | 91.95 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 91.93 | gold quality |
| cartilage tissue | UBERON:0002418 | 91.78 | gold quality |
| caudate nucleus | UBERON:0001873 | 90.96 | gold quality |
| heart | UBERON:0000948 | 90.86 | gold quality |
| endothelial cell | CL:0000115 | 90.69 | gold quality |
| cerebellar cortex | UBERON:0002129 | 90.68 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 90.65 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 90.45 | gold quality |
| right atrium auricular region | UBERON:0006631 | 90.37 | gold quality |
| cardiac atrium | UBERON:0002081 | 90.31 | gold quality |
| secondary oocyte | CL:0000655 | 90.26 | gold quality |
| right uterine tube | UBERON:0001302 | 90.13 | gold quality |
| nucleus accumbens | UBERON:0001882 | 89.93 | gold quality |
| putamen | UBERON:0001874 | 89.89 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.93 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
45 targeting LRRC49, 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-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-12118 | 100.00 | 65.88 | 1270 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-3667-3P | 99.99 | 67.17 | 1636 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-3617-3P | 99.98 | 67.86 | 918 |
| HSA-MIR-6891-5P | 99.98 | 66.53 | 1372 |
| HSA-MIR-3173-3P | 99.98 | 66.49 | 1217 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-545-3P | 99.95 | 70.74 | 2783 |
| HSA-MIR-3119 | 99.92 | 71.34 | 2390 |
| HSA-MIR-1305 | 99.91 | 71.43 | 3443 |
| HSA-MIR-548AR-3P | 99.85 | 71.26 | 3889 |
| HSA-MIR-548AZ-3P | 99.82 | 70.56 | 3549 |
| HSA-MIR-548BC | 99.82 | 70.61 | 3524 |
| HSA-MIR-548E-3P | 99.82 | 70.59 | 3514 |
| HSA-MIR-548F-3P | 99.82 | 70.59 | 3540 |
| HSA-MIR-3133 | 99.81 | 70.92 | 3506 |
| HSA-MIR-548A-3P | 99.76 | 70.58 | 3524 |
| HSA-MIR-1976 | 99.74 | 65.48 | 1127 |
| HSA-MIR-4470 | 99.66 | 69.35 | 1767 |
| HSA-MIR-186-3P | 99.51 | 66.24 | 1685 |
| HSA-MIR-203A-3P | 99.49 | 70.56 | 2806 |
| HSA-MIR-5584-5P | 99.49 | 68.22 | 2814 |
| HSA-MIR-3612 | 99.45 | 66.02 | 1333 |
| HSA-MIR-650 | 99.45 | 65.77 | 1309 |
| HSA-MIR-330-3P | 99.41 | 69.95 | 2521 |
| HSA-MIR-133A-3P | 99.27 | 71.53 | 1270 |
| HSA-MIR-133B | 99.27 | 71.53 | 1270 |
| HSA-MIR-6734-3P | 99.15 | 66.27 | 1627 |
Literature-anchored findings (GeneRIF, showing 1)
- transcripts of LRRC49/THAP10 bidirectional gene pair are co-regulated by estrogen and that hypermethylation of the bidirectional promoter region simultaneously silences both genes. (PMID:18575747)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Lrrc49 | ENSMUSG00000047766 |
| rattus_norvegicus | Lrrc49 | ENSRNOG00000012015 |
| drosophila_melanogaster | CG13708 | FBGN0035577 |
Paralogs (13): LRRC23 (ENSG00000010626), LRRC61 (ENSG00000127399), DNAAF11 (ENSG00000129295), LRRC9 (ENSG00000131951), LRRCC1 (ENSG00000133739), LRRC46 (ENSG00000141294), DNAAF1 (ENSG00000154099), LRGUK (ENSG00000155530), LRRC43 (ENSG00000158113), LRRIQ3 (ENSG00000162620), DRC3 (ENSG00000171962), PPP1R42 (ENSG00000178125), CEP97 (ENSG00000182504)
Protein
Protein identifiers
Leucine-rich repeat-containing protein 49 — Q8IUZ0 (reviewed: Q8IUZ0)
Alternative names: Centriolar satellite-associated tubulin polyglutamylase complex regulator 2, Tubulin polyglutamylase complex subunit 4
All UniProt accessions (14): Q8IUZ0, A0A0B4J283, H0YKE9, H0YKI5, H0YKQ0, H0YKS7, H0YLQ8, H0YLZ6, H0YM43, H0YMT2, H0YMZ6, H0YNI5, H0YNV5, H3BNA9
UniProt curated annotations — full annotation on UniProt →
Function. Subunit of the tubulin polyglutamylase complex (TPGC). The complex mediates cilia and flagella polyglutamylation which is essential for their biogenesis and motility.
Subunit / interactions. Part of the neuronal tubulin polyglutamylase complex which contains TPGS1, TPGS2, TTLL1, LRRC49 and NICN1. Interacts with PCM1; TTLL1, TPGS1, TPGS2 and LRRC49.
Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Centriolar satellite.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8IUZ0-1 | 1 | yes |
| Q8IUZ0-2 | 2 | |
| Q8IUZ0-3 | 3 | |
| Q8IUZ0-4 | 4 |
RefSeq proteins (5): NP_001185946, NP_001185947, NP_001271286, NP_001350661, NP_060161* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001611 | Leu-rich_rpt | Repeat |
| IPR003591 | Leu-rich_rpt_typical-subtyp | Repeat |
| IPR025875 | Leu-rich_rpt_4 | Repeat |
| IPR032675 | LRR_dom_sf | Homologous_superfamily |
| IPR050576 | Cilia_flagella_integrity | Family |
Pfam: PF12799, PF14580
UniProt features (19 total): repeat 7, sequence conflict 5, splice variant 3, chain 1, coiled-coil region 1, domain 1, region of interest 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8IUZ0-F1 | 75.69 | 0.33 |
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-8955332 | Carboxyterminal post-translational modifications of tubulin |
| R-HSA-392499 | Metabolism of proteins |
| R-HSA-597592 | Post-translational protein modification |
MSigDB gene sets: 118 (showing top):
GOCC_MICROTUBULE_ORGANIZING_CENTER, MODULE_205, GOCC_CENTROSOME, NRF2_01, RFX1_02, chr15q23, PTF1BETA_Q6, CETS1P54_01, TTCNRGNNNNTTC_HSF_Q6, MARSON_BOUND_BY_E2F4_UNSTIMULATED, GOCC_CENTRIOLAR_SATELLITE, SCGGAAGY_ELK1_02, GAUSSMANN_MLL_AF4_FUSION_TARGETS_G_UP, REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOBERT_OLIGODENDROCYTE_DIFFERENTIATION_DN
GO Biological Process (3): microtubule cytoskeleton organization (GO:0000226), microtubule polymerization (GO:0046785), cilium disassembly (GO:0061523)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (4): microtubule (GO:0005874), centriolar satellite (GO:0034451), cytoplasm (GO:0005737), cytoskeleton (GO:0005856)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Post-translational protein modification | 1 |
| Metabolism of proteins | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| cytoskeleton organization | 1 |
| microtubule-based process | 1 |
| microtubule nucleation | 1 |
| microtubule polymerization or depolymerization | 1 |
| protein polymerization | 1 |
| supramolecular fiber organization | 1 |
| cilium organization | 1 |
| organelle disassembly | 1 |
| binding | 1 |
| microtubule cytoskeleton | 1 |
| polymeric cytoskeletal fiber | 1 |
| centrosome | 1 |
| intracellular anatomical structure | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
1181 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| LRRC49 | TPGS1 | Q6ZTW0 | 732 |
| LRRC49 | THAP10 | Q9P2Z0 | 603 |
| LRRC49 | TTLL1 | O95922 | 595 |
| LRRC49 | NICN1 | Q9BSH3 | 589 |
| LRRC49 | CCDC148 | Q8NFR7 | 516 |
| LRRC49 | CSTPP1 | Q9H6J7 | 448 |
| LRRC49 | REDIC1 | Q86WS4 | 447 |
| LRRC49 | C3orf80 | F5H4A9 | 444 |
| LRRC49 | E5RHQ9 | E5RHQ9 | 419 |
| LRRC49 | LARP6 | Q9BRS8 | 418 |
| LRRC49 | TPGS2 | Q68CL5 | 401 |
| LRRC49 | SPACA6 | W5XKT8 | 386 |
| LRRC49 | CLEC5A | Q9NY25 | 375 |
| LRRC49 | TEX9 | Q8N6V9 | 374 |
| LRRC49 | TMEM234 | Q8WY98 | 354 |
IntAct
68 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CEP290 | CCP110 | psi-mi:“MI:2364”(proximity) | 0.890 |
| EIF3F | EIF3CL | psi-mi:“MI:0914”(association) | 0.640 |
| NICN1 | TTLL1 | psi-mi:“MI:0914”(association) | 0.640 |
| TTLL1 | CDC27 | psi-mi:“MI:0914”(association) | 0.640 |
| NICN1 | TPGS2 | psi-mi:“MI:0914”(association) | 0.640 |
| LRRC49 | EIF3F | psi-mi:“MI:0914”(association) | 0.640 |
| INSR | PIK3R2 | psi-mi:“MI:2364”(proximity) | 0.570 |
| CEP104 | CCDC66 | psi-mi:“MI:2364”(proximity) | 0.540 |
| LRRC49 | SNAP29 | psi-mi:“MI:0914”(association) | 0.530 |
| CSTPP1 | TPGS2 | psi-mi:“MI:0914”(association) | 0.530 |
| AHI1 | OFD1 | psi-mi:“MI:2364”(proximity) | 0.420 |
| GSK3B | SEC16A | psi-mi:“MI:2364”(proximity) | 0.420 |
| LRRC49 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| LRRC49 | psi-mi:“MI:0915”(physical association) | 0.370 | |
| SPATA1 | ANKHD1 | psi-mi:“MI:0914”(association) | 0.350 |
| LRRC49 | PCM1 | psi-mi:“MI:0914”(association) | 0.350 |
| SMG8 | HSP90AA4P | psi-mi:“MI:0914”(association) | 0.350 |
| CSTPP1 | TPGS2 | psi-mi:“MI:0914”(association) | 0.350 |
| ROS1 | ODAD3 | psi-mi:“MI:0914”(association) | 0.350 |
| HCN1 | USP27X | psi-mi:“MI:0914”(association) | 0.350 |
| TPGS1 | PIK3R2 | psi-mi:“MI:0914”(association) | 0.350 |
| CSTPP1 | PEX5 | psi-mi:“MI:0914”(association) | 0.350 |
| TTLL1 | CAMK2B | psi-mi:“MI:0914”(association) | 0.350 |
| LRRC49 | ASS1 | psi-mi:“MI:0914”(association) | 0.350 |
| MAGEA10 | KANSL1L | psi-mi:“MI:0914”(association) | 0.350 |
| NICN1 | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (137): LRRC49 (Affinity Capture-MS), LRRC49 (Affinity Capture-MS), LRRC49 (Affinity Capture-MS), LRRC49 (Affinity Capture-MS), LRRC49 (Proximity Label-MS), LRRC49 (Proximity Label-MS), LRRC49 (Proximity Label-MS), LRRC49 (Proximity Label-MS), LRRC49 (Proximity Label-MS), LRRC49 (Proximity Label-MS), LRRC49 (Proximity Label-MS), LRRC49 (Proximity Label-MS), LRRC49 (Proximity Label-MS), LRRC49 (Proximity Label-MS), LRRC49 (Proximity Label-MS)
ESM2 similar proteins: A2VE78, B1H1X1, B4F7C5, E1C3P4, O94898, O95170, P55265, P97432, Q14596, Q1L994, Q2HJ90, Q2TBA3, Q3UGM2, Q496Y0, Q4KM95, Q52KR2, Q5F3F2, Q5KSL6, Q5Q9Z2, Q5R6E1, Q641K1, Q69ZK0, Q6NTL4, Q7TPQ3, Q80TL0, Q80XG9, Q80Z30, Q86VH4, Q8C2S5, Q8IUZ0, Q8K2I9, Q8N4P6, Q8NA31, Q8NEE8, Q8NFZ0, Q8R2U7, Q8WY54, Q91YK0, Q95LZ5, Q96EK7
Diamond homologs: Q8IUZ0, Q91YK0
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| LRRC49 | “form complex” | “Tubulin polyglutamylase complex” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 87 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Loss of Nlp from mitotic centrosomes | 8 | 23.5× | 2e-07 |
| Loss of proteins required for interphase microtubule organization from the centrosome | 8 | 23.5× | 2e-07 |
| Anchoring of the basal body to the plasma membrane | 11 | 23.0× | 4e-10 |
| AURKA Activation by TPX2 | 8 | 22.6× | 2e-07 |
| Recruitment of mitotic centrosome proteins and complexes | 8 | 20.1× | 4e-07 |
| Regulation of PLK1 Activity at G2/M Transition | 8 | 18.8× | 6e-07 |
| Recruitment of NuMA to mitotic centrosomes | 8 | 17.3× | 1e-06 |
| Cilium Assembly | 5 | 10.1× | 5e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| centriole replication | 8 | 79.2× | 3e-11 |
| centrosome cycle | 5 | 22.8× | 4e-04 |
| cell surface receptor protein tyrosine kinase signaling pathway | 6 | 14.1× | 5e-04 |
| cilium assembly | 11 | 10.9× | 2e-06 |
| protein autophosphorylation | 5 | 9.8× | 7e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
138 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 124 |
| Likely benign | 4 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3518 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 15:70882648:TAC:T | acceptor_gain | 1.0000 |
| 15:70882648:TACC:T | acceptor_loss | 1.0000 |
| 15:70882651:C:CC | acceptor_gain | 1.0000 |
| 15:70882651:CTGA:C | acceptor_loss | 1.0000 |
| 15:70882759:AC:A | donor_gain | 1.0000 |
| 15:70882760:CC:C | donor_gain | 1.0000 |
| 15:70882760:CCCA:C | donor_gain | 1.0000 |
| 15:70892938:ACAAC:A | donor_gain | 1.0000 |
| 15:70892939:CAAC:C | donor_gain | 1.0000 |
| 15:70892940:AAC:A | donor_gain | 1.0000 |
| 15:70892941:AC:A | donor_gain | 1.0000 |
| 15:70892943:G:GA | donor_loss | 1.0000 |
| 15:70892943:G:GG | donor_gain | 1.0000 |
| 15:70892944:T:A | donor_loss | 1.0000 |
| 15:70893641:G:GG | donor_gain | 1.0000 |
| 15:70895987:T:TG | donor_gain | 1.0000 |
| 15:70904550:A:AG | acceptor_gain | 1.0000 |
| 15:70904551:G:GG | acceptor_gain | 1.0000 |
| 15:70919191:GTG:G | donor_gain | 1.0000 |
| 15:70919194:G:A | donor_loss | 1.0000 |
| 15:70919195:TGAGT:T | donor_loss | 1.0000 |
| 15:70919196:G:GT | donor_loss | 1.0000 |
| 15:70919197:AGTAT:A | donor_loss | 1.0000 |
| 15:70936755:TTCCA:T | acceptor_loss | 1.0000 |
| 15:70936756:TCCA:T | acceptor_loss | 1.0000 |
| 15:70936758:CA:C | acceptor_loss | 1.0000 |
| 15:70936759:A:AG | acceptor_gain | 1.0000 |
| 15:70936759:A:AT | acceptor_loss | 1.0000 |
| 15:70936760:G:GG | acceptor_gain | 1.0000 |
| 15:70936760:GA:G | acceptor_gain | 1.0000 |
AlphaMissense
4560 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 15:70919162:T:C | L227P | 1.000 |
| 15:70904621:T:A | N122K | 0.999 |
| 15:70904621:T:G | N122K | 0.999 |
| 15:70911585:T:A | L185H | 0.999 |
| 15:70911585:T:C | L185P | 0.999 |
| 15:70919087:T:G | L202W | 0.999 |
| 15:70936795:T:C | L249P | 0.999 |
| 15:70936801:T:C | L251P | 0.999 |
| 15:70936811:C:A | N254K | 0.999 |
| 15:70936811:C:G | N254K | 0.999 |
| 15:70963848:T:A | N279K | 0.999 |
| 15:70963848:T:G | N279K | 0.999 |
| 15:71009811:T:C | L471P | 0.999 |
| 15:71009817:T:C | F473S | 0.999 |
| 15:71009913:T:A | V505D | 0.999 |
| 15:71009930:T:A | W511R | 0.999 |
| 15:71009930:T:C | W511R | 0.999 |
| 15:71012828:G:C | A540P | 0.999 |
| 15:71012829:C:A | A540D | 0.999 |
| 15:71049533:T:A | V661D | 0.999 |
| 15:70904568:T:C | C105R | 0.998 |
| 15:70904687:C:A | N144K | 0.998 |
| 15:70904687:C:G | N144K | 0.998 |
| 15:70904737:T:A | L161H | 0.998 |
| 15:70904737:T:C | L161P | 0.998 |
| 15:70904753:C:A | N166K | 0.998 |
| 15:70904753:C:G | N166K | 0.998 |
| 15:70911579:T:C | L183S | 0.998 |
| 15:70911579:T:G | L183W | 0.998 |
| 15:70911585:T:G | L185R | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000000734 (15:70903110 G>T), RS1000013170 (15:70960986 G>A), RS1000034631 (15:70952345 C>A,G,T), RS1000046296 (15:71005389 C>T), RS1000075561 (15:70961102 T>C), RS1000080846 (15:71003995 G>A), RS1000085281 (15:71032673 T>C), RS1000096085 (15:71034727 C>A,G), RS1000122051 (15:71051435 C>T), RS1000130470 (15:70934002 C>T), RS1000131307 (15:71003655 T>C), RS1000137025 (15:70882124 T>C), RS1000144106 (15:71044714 A>G), RS1000144874 (15:70855394 T>G), RS1000154534 (15:70860250 C>A)
Disease associations
OMIM: gene MIM:620497 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004864_13 | Perceived unattractiveness to mosquitoes | 4.000000e-07 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0008380 | perceived unattractiveness to mosquitos measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
28 total (human), top 28 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| trichostatin A | affects cotreatment, decreases expression | 3 |
| Benzo(a)pyrene | decreases expression, affects methylation | 3 |
| Valproic Acid | affects expression, decreases expression, increases expression | 3 |
| bisphenol A | affects cotreatment, increases methylation, increases expression | 2 |
| 9-hydroxyoctadecadienoic acid | increases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| perfluorooctanoic acid | increases expression | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| epigallocatechin gallate | decreases expression, affects cotreatment | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| ICG 001 | increases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| bisphenol S | decreases methylation | 1 |
| jinfukang | decreases expression | 1 |
| NSC 689534 | affects binding, increases expression | 1 |
| Resveratrol | decreases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Copper | affects binding, increases expression | 1 |
| Diethylhexyl Phthalate | decreases expression | 1 |
| Doxorubicin | increases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Cyclosporine | increases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Particulate Matter | decreases expression, increases abundance | 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.