TXLNG
gene geneOn this page
Also known as FLJ11209LSR5FIATMGC126621MGC126625TXLNGX
Summary
TXLNG (taxilin gamma, HGNC:18578) is a protein-coding gene on chromosome Xp22.2, encoding Gamma-taxilin (Q9NUQ3). May be involved in intracellular vesicle traffic.
This gene encodes a member of the taxilin family. The encoded protein binds to the C-terminal coiled-coil region of syntaxin family members 1A, 3A and 4A, and may play a role in intracellular vesicle trafficking. This gene is up-regulated by lipopolysaccharide and the gene product may be involved in cell cycle regulation. The related mouse protein was also shown to inhibit activating transcription factor 4-mediated transcription and thus regulate bone mass accrual. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
Source: NCBI Gene 55787 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 151 total
- MANE Select transcript:
NM_018360
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:18578 |
| Approved symbol | TXLNG |
| Name | taxilin gamma |
| Location | Xp22.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ11209, LSR5, FIAT, MGC126621, MGC126625, TXLNGX |
| Ensembl gene | ENSG00000086712 |
| Ensembl biotype | protein_coding |
| OMIM | 300677 |
| Entrez | 55787 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 7 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000380122, ENST00000398155, ENST00000485153, ENST00000876568, ENST00000919096, ENST00000919097, ENST00000919098, ENST00000941919
RefSeq mRNA: 2 — MANE Select: NM_018360
NM_001168683, NM_018360
CCDS: CCDS14178, CCDS55373
Canonical transcript exons
ENST00000380122 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001108583 | 16829576 | 16829770 |
| ENSE00001108585 | 16828094 | 16828264 |
| ENSE00001201755 | 16839821 | 16839916 |
| ENSE00001326566 | 16818574 | 16818877 |
| ENSE00001688341 | 16837593 | 16837685 |
| ENSE00001741815 | 16832623 | 16832742 |
| ENSE00001765071 | 16820164 | 16820255 |
| ENSE00001781516 | 16834283 | 16834357 |
| ENSE00001937459 | 16786466 | 16786589 |
| ENSE00003565807 | 16841428 | 16844519 |
Expression profiles
Bgee: expression breadth ubiquitous, 252 present calls, max score 91.88.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 16.3870 / max 165.0067, expressed in 1756 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 195644 | 16.1459 | 1755 |
| 209614 | 0.2411 | 114 |
Top tissues by expression
280 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 91.88 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 88.74 | gold quality |
| tibia | UBERON:0000979 | 88.69 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 88.43 | gold quality |
| left ovary | UBERON:0002119 | 87.61 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 87.55 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 87.22 | gold quality |
| ovary | UBERON:0000992 | 87.01 | gold quality |
| right ovary | UBERON:0002118 | 86.35 | gold quality |
| primary visual cortex | UBERON:0002436 | 85.90 | gold quality |
| mammary duct | UBERON:0001765 | 85.86 | gold quality |
| parietal pleura | UBERON:0002400 | 85.73 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 85.71 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 85.45 | gold quality |
| adrenal tissue | UBERON:0018303 | 85.40 | gold quality |
| left adrenal gland | UBERON:0001234 | 85.01 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 84.98 | gold quality |
| adrenal cortex | UBERON:0001235 | 84.80 | gold quality |
| adipose tissue | UBERON:0001013 | 84.77 | gold quality |
| right adrenal gland | UBERON:0001233 | 84.72 | gold quality |
| seminal vesicle | UBERON:0000998 | 84.70 | gold quality |
| pituitary gland | UBERON:0000007 | 84.64 | gold quality |
| mammary gland | UBERON:0001911 | 84.52 | gold quality |
| adrenal gland | UBERON:0002369 | 84.51 | gold quality |
| thoracic mammary gland | UBERON:0005200 | 84.50 | gold quality |
| adenohypophysis | UBERON:0002196 | 84.39 | gold quality |
| connective tissue | UBERON:0002384 | 84.34 | gold quality |
| endocervix | UBERON:0000458 | 84.20 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 84.09 | gold quality |
| visceral pleura | UBERON:0002401 | 84.08 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 8.09 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): SP1, SP3, SP7
miRNA regulators (miRDB)
170 targeting TXLNG, 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-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-1185-1-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-1185-2-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-LET-7F-2-3P | 99.98 | 70.98 | 2588 |
| HSA-MIR-8068 | 99.98 | 73.85 | 2376 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-3605-5P | 99.96 | 67.12 | 932 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| 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 |
Literature-anchored findings (GeneRIF, showing 6)
- identification of isoforms of taxilin; interaction with syntaxin; tissue distribution [beta-taxilin, gamma-taxilin]. (PMID:15184072)
- evaluation of the effects of a novel environmental lipopolysaccharide-responding (Elrg) gene on the regulation of proliferation and cell cycle of the hepatoma-derived cell line, HepG2 (PMID:18068885)
- [review] First evidence of a functional interaction between ATF4, FIAT (factor-inhibiting ATF4-mediated transcription) and alphaNAC (nascent polypeptide-associated complex and coactivator alpha). (PMID:22082360)
- Taken together with the result that gamma-taxilin protein expression levels were decreased at the onset of mitosis, we propose that gamma-taxilin participates in Nek2A-mediated centrosome disjunction as a negative regulator through its interaction with Nek2A. (PMID:29225051)
- alpha-/gamma-Taxilin are required for centriolar subdistal appendage assembly and microtubule organization. (PMID:35119360)
- TXLNG improves insulin resistance in obese subjects in vitro and in vivo by inhibiting ATF4 transcriptional activity. (PMID:37028586)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | txlng | ENSDARG00000001969 |
| mus_musculus | Txlng | ENSMUSG00000038344 |
| rattus_norvegicus | Txlng | ENSRNOG00000004971 |
| drosophila_melanogaster | CG5886 | FBGN0039379 |
| caenorhabditis_elegans | T22C1.6 | WBGENE00011917 |
Paralogs (2): TXLNA (ENSG00000084652), TXLNB (ENSG00000164440)
Protein
Protein identifiers
Gamma-taxilin — Q9NUQ3 (reviewed: Q9NUQ3)
Alternative names: Environmental lipopolysaccharide-responding gene protein, Factor inhibiting ATF4-mediated transcription, Lipopolysaccharide-specific response protein 5
All UniProt accessions (1): Q9NUQ3
UniProt curated annotations — full annotation on UniProt →
Function. May be involved in intracellular vesicle traffic. Inhibits ATF4-mediated transcription, possibly by dimerizing with ATF4 to form inactive dimers that cannot bind DNA. May be involved in regulating bone mass density through an ATF4-dependent pathway. May be involved in cell cycle progression.
Subunit / interactions. Binds to the C-terminal coiled coil region of syntaxin family members STX1A, STX3A and STX4A. Forms a heterodimer with ATF4 in osteoblasts.
Subcellular location. Nucleus membrane. Cytoplasm. Cytosol.
Tissue specificity. Ubiquitously expressed. Expressed at high level in heart and skeletal muscle. Expressed in brain, placenta, lung, liver, kidney and pancreas.
Induction. By bacterial lipopolysaccharides (LPS) in Hep-G2 cells.
Miscellaneous. Depletion of TXLNG by siRNA decreases the percentage of Hep-G2 cells arrested in G1 phase.
Similarity. Belongs to the taxilin family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9NUQ3-1 | 1 | yes |
| Q9NUQ3-2 | 2 |
RefSeq proteins (2): NP_001162154, NP_060830* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR026183 | Taxilin_fam | Family |
Pfam: PF09728
UniProt features (21 total): modified residue 8, region of interest 3, sequence conflict 3, compositionally biased region 3, chain 1, splice variant 1, sequence variant 1, coiled-coil region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NUQ3-F1 | 74.25 | 0.50 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (8): 79, 86, 97, 105, 283, 517, 12, 24
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 166 (showing top):
GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_UP, TGCGCANK_UNKNOWN, GCANCTGNY_MYOD_Q6, GGGTGGRR_PAX4_03, GTACAGG_MIR486, USF_C, TTGCWCAAY_CEBPB_02, CEBP_Q2, GOBP_BONE_MINERALIZATION, GOBP_REGULATION_OF_CELL_CYCLE, BACH2_01, TGANTCA_AP1_C, HIF1_Q3, GOBP_OSSIFICATION, AACTTT_UNKNOWN
GO Biological Process (3): regulation of cell cycle process (GO:0010564), regulation of bone mineralization (GO:0030500), regulation of cell cycle (GO:0051726)
GO Molecular Function (2): syntaxin binding (GO:0019905), DNA-binding transcription factor binding (GO:0140297)
GO Cellular Component (5): cytosol (GO:0005829), nuclear membrane (GO:0031965), nucleus (GO:0005634), cytoplasm (GO:0005737), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| cell cycle process | 1 |
| regulation of cell cycle | 1 |
| regulation of ossification | 1 |
| bone mineralization | 1 |
| regulation of biomineral tissue development | 1 |
| cell cycle | 1 |
| regulation of cellular process | 1 |
| SNARE binding | 1 |
| transcription factor binding | 1 |
| cytoplasm | 1 |
| nucleus | 1 |
| nuclear envelope | 1 |
| organelle membrane | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
956 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TXLNG | STX4 | Q12846 | 904 |
| TXLNG | ATF4 | P18848 | 832 |
| TXLNG | STX8 | Q9UNK0 | 760 |
| TXLNG | STX7 | O15400 | 711 |
| TXLNG | STX3 | Q13277 | 707 |
| TXLNG | STX1A | Q16623 | 608 |
| TXLNG | AKAP17A | Q02040 | 592 |
| TXLNG | USP9Y | O00507 | 578 |
| TXLNG | RPS4Y1 | P22090 | 565 |
| TXLNG | BGLAP | P02818 | 564 |
| TXLNG | USP9X | Q93008 | 551 |
| TXLNG | PRKX | P51817 | 546 |
| TXLNG | KDM5C | P41229 | 540 |
| TXLNG | RPS4X | P12631 | 532 |
| TXLNG | TBL1Y | Q9BQ87 | 532 |
IntAct
89 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MED4 | MED19 | psi-mi:“MI:2364”(proximity) | 0.900 |
| MED4 | MED19 | psi-mi:“MI:0914”(association) | 0.900 |
| ODAD1 | HGS | psi-mi:“MI:0914”(association) | 0.850 |
| KRT31 | HGS | psi-mi:“MI:0914”(association) | 0.780 |
| BTF3L4 | TXLNA | psi-mi:“MI:0914”(association) | 0.780 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| KRT34 | TXLNA | psi-mi:“MI:0914”(association) | 0.670 |
| HIF1AN | GMDS | psi-mi:“MI:0914”(association) | 0.640 |
| MIS18A | DCTN6 | psi-mi:“MI:0914”(association) | 0.640 |
| SNRNP27 | UBA6 | psi-mi:“MI:0914”(association) | 0.530 |
| TRIM44 | ODAD3 | psi-mi:“MI:0914”(association) | 0.530 |
| KIF2B | BACH1 | psi-mi:“MI:0914”(association) | 0.530 |
| GRAMD2B | EFCAB14 | psi-mi:“MI:0914”(association) | 0.530 |
| TXLNB | LAMC1 | psi-mi:“MI:0914”(association) | 0.530 |
| CPNE2 | HIP1 | psi-mi:“MI:0914”(association) | 0.530 |
| STUB1 | DNAJC13 | psi-mi:“MI:0914”(association) | 0.530 |
| CUEDC1 | TOM1 | psi-mi:“MI:0914”(association) | 0.530 |
| STUB1 | DNAJB6 | psi-mi:“MI:0914”(association) | 0.530 |
| NUCB1 | NUCB2 | psi-mi:“MI:0914”(association) | 0.500 |
| Smn1 | CLNS1A | psi-mi:“MI:0914”(association) | 0.350 |
| Chmp6 | NSF | psi-mi:“MI:0914”(association) | 0.350 |
| TANK | CNOT1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (156): TXLNG (Affinity Capture-RNA), TXLNG (Affinity Capture-RNA), TXLNG (Affinity Capture-RNA), TXLNG (Affinity Capture-MS), CDV3 (Co-fractionation), DDX17 (Co-fractionation), TXLNG (Co-fractionation), TXLNG (Co-fractionation), TXLNG (Affinity Capture-MS), TXLNG (Proximity Label-MS), TXLNG (Affinity Capture-MS), TXLNG (Affinity Capture-MS), TXLNG (Proximity Label-MS), TXLNG (Proximity Label-MS), TXLNG (Proximity Label-MS)
ESM2 similar proteins: A0PJT0, A2A6T1, A4IFI1, D3YV10, D3Z5T1, D3ZUQ0, E1U8D0, O75150, P0C219, P40222, P97817, Q01850, Q08379, Q17QG3, Q3U319, Q499E4, Q4KMA0, Q4R7K7, Q4V328, Q569K6, Q5EBL4, Q5RAU7, Q5SPX1, Q5XIA0, Q5XJA2, Q62036, Q62839, Q6DFC2, Q6DH86, Q6NRH3, Q6PAM1, Q6ZUS6, Q86X02, Q8BHN1, Q8BRM2, Q8C9S4, Q8CJB9, Q8IYE1, Q8IYY4, Q8N3L3
Diamond homologs: P40222, Q6GVM5, Q6PAM1, Q8BHN1, Q8N3L3, Q8VBT1, Q9BZA5, Q9I969, Q9NUQ3
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 106 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 |
|---|---|---|---|
| Anchoring of the basal body to the plasma membrane | 10 | 15.7× | 3e-07 |
| Loss of Nlp from mitotic centrosomes | 7 | 15.4× | 3e-05 |
| Loss of proteins required for interphase microtubule organization from the centrosome | 7 | 15.4× | 3e-05 |
| AURKA Activation by TPX2 | 7 | 14.8× | 3e-05 |
| Regulation of PLK1 Activity at G2/M Transition | 8 | 14.1× | 2e-05 |
| Recruitment of mitotic centrosome proteins and complexes | 7 | 13.2× | 6e-05 |
| Recruitment of NuMA to mitotic centrosomes | 7 | 11.3× | 1e-04 |
| Formation of the cornified envelope | 8 | 9.8× | 8e-05 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| morphogenesis of an epithelium | 8 | 29.3× | 7e-08 |
| intermediate filament organization | 9 | 23.1× | 7e-08 |
| epithelial cell differentiation | 7 | 13.1× | 1e-04 |
| cilium assembly | 10 | 7.8× | 1e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
151 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 51 |
| Likely benign | 5 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2306 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| X:16786586:GAAG:G | donor_gain | 1.0000 |
| X:16786587:AAGGT:A | donor_loss | 1.0000 |
| X:16786588:AGG:A | donor_loss | 1.0000 |
| X:16786589:GGT:G | donor_loss | 1.0000 |
| X:16818569:TCTA:T | acceptor_loss | 1.0000 |
| X:16818570:CTAGT:C | acceptor_loss | 1.0000 |
| X:16818571:TA:T | acceptor_loss | 1.0000 |
| X:16818572:A:AC | acceptor_loss | 1.0000 |
| X:16818572:A:AG | acceptor_gain | 1.0000 |
| X:16818572:AGTTT:A | acceptor_gain | 1.0000 |
| X:16818573:G:GA | acceptor_gain | 1.0000 |
| X:16818573:GT:G | acceptor_gain | 1.0000 |
| X:16818573:GTT:G | acceptor_gain | 1.0000 |
| X:16818573:GTTT:G | acceptor_gain | 1.0000 |
| X:16818573:GTTTG:G | acceptor_gain | 1.0000 |
| X:16818858:G:GT | donor_gain | 1.0000 |
| X:16818859:A:T | donor_gain | 1.0000 |
| X:16818874:TTAG:T | donor_loss | 1.0000 |
| X:16818875:TAGGT:T | donor_loss | 1.0000 |
| X:16818876:AG:A | donor_loss | 1.0000 |
| X:16818877:GGTAA:G | donor_loss | 1.0000 |
| X:16818878:GT:G | donor_loss | 1.0000 |
| X:16818879:T:A | donor_loss | 1.0000 |
| X:16820256:G:GG | donor_gain | 1.0000 |
| X:16828092:A:AG | acceptor_gain | 1.0000 |
| X:16828093:G:GG | acceptor_gain | 1.0000 |
| X:16829752:G:GG | donor_gain | 1.0000 |
| X:16829765:G:T | donor_gain | 1.0000 |
| X:16829768:GAG:G | donor_gain | 1.0000 |
| X:16829769:AG:A | donor_loss | 1.0000 |
AlphaMissense
3490 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| X:16828239:T:C | L215P | 0.999 |
| X:16829733:T:C | L276P | 0.999 |
| X:16832674:G:C | A306P | 0.999 |
| X:16834347:T:C | L350P | 0.999 |
| X:16837594:T:C | L354P | 0.999 |
| X:16837614:T:C | F361L | 0.999 |
| X:16837616:T:A | F361L | 0.999 |
| X:16837616:T:G | F361L | 0.999 |
| X:16837623:T:C | F364L | 0.999 |
| X:16837625:C:A | F364L | 0.999 |
| X:16837625:C:G | F364L | 0.999 |
| X:16837656:T:C | F375L | 0.999 |
| X:16837658:T:A | F375L | 0.999 |
| X:16837658:T:G | F375L | 0.999 |
| X:16839843:T:C | L392P | 0.999 |
| X:16820233:T:C | L159P | 0.998 |
| X:16828218:T:C | L208P | 0.998 |
| X:16828227:T:C | L211P | 0.998 |
| X:16832654:T:C | L299P | 0.998 |
| X:16832666:T:C | L303P | 0.998 |
| X:16832681:T:C | L308P | 0.998 |
| X:16834295:G:C | A333P | 0.998 |
| X:16837624:T:C | F364S | 0.998 |
| X:16837638:G:C | A369P | 0.998 |
| X:16837644:A:C | S371R | 0.998 |
| X:16837646:C:A | S371R | 0.998 |
| X:16837646:C:G | S371R | 0.998 |
| X:16837654:T:C | L374P | 0.998 |
| X:16837665:T:C | F378L | 0.998 |
| X:16837667:C:A | F378L | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000004970 (X:16794183 C>T), RS1000035254 (X:16785357 A>T), RS1000108396 (X:16785722 A>G), RS1000174598 (X:16798038 G>A,T), RS1000245477 (X:16819200 C>T), RS1000305424 (X:16810069 C>T), RS1000412424 (X:16801483 G>A), RS1000479868 (X:16831928 G>A), RS1000514433 (X:16816758 C>T), RS1000583138 (X:16817247 A>G), RS1000693748 (X:16808490 C>T), RS1000748734 (X:16799627 C>T), RS1000825488 (X:16833817 C>G,T), RS1000877935 (X:16834249 A>G), RS1000951964 (X:16823067 G>A,T)
Disease associations
OMIM: gene MIM:300677 | 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 |
|---|---|---|
| GCST004094_16 | Prostate-specific antigen levels (conditioned on lead SNPs) | 3.000000e-13 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
35 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| aristolochic acid I | decreases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| bisphenol F | affects cotreatment, increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| sodium arsenite | affects cotreatment, increases abundance, increases expression | 1 |
| manganese chloride | affects cotreatment, increases abundance, increases expression | 1 |
| potassium chromate(VI) | increases expression | 1 |
| coumarin | increases phosphorylation | 1 |
| cylindrospermopsin | increases expression | 1 |
| perfluoro-n-nonanoic acid | increases expression | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| jinfukang | decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Arsenic | affects cotreatment, increases abundance, increases expression | 1 |
| Atrazine | increases expression | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Estradiol | increases expression | 1 |
| Ethyl Methanesulfonate | decreases expression | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Ketoconazole | increases expression | 1 |
| Manganese | affects cotreatment, increases abundance, increases expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Valproic Acid | increases expression | 1 |
| 1-Methyl-3-isobutylxanthine | 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.