LUC7L
gene geneOn this page
Also known as LUC7B1hLuc7B1Luc7
Summary
LUC7L (LUC7 like, HGNC:6723) is a protein-coding gene on chromosome 16p13.3, encoding Putative RNA-binding protein Luc7-like 1 (Q9NQ29). May bind to RNA via its Arg/Ser-rich domain.
The LUC7L gene may represent a mammalian heterochromatic gene, encoding a putative RNA-binding protein similar to the yeast Luc7p subunit of the U1 snRNP splicing complex that is normally required for 5-prime splice site selection (Tufarelli et al., 2001 [PubMed 11170747]).
Source: NCBI Gene 55692 — RefSeq curated summary.
At a glance
- GWAS associations: 28
- Clinical variants (ClinVar): 72 total — 1 pathogenic
- MANE Select transcript:
NM_201412
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:6723 |
| Approved symbol | LUC7L |
| Name | LUC7 like |
| Location | 16p13.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | LUC7B1, hLuc7B1, Luc7 |
| Ensembl gene | ENSG00000007392 |
| Ensembl biotype | protein_coding |
| OMIM | 607782 |
| Entrez | 55692 |
Gene structure
Transcript identifiers
Ensembl transcripts: 30 — 19 protein_coding, 7 retained_intron, 3 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000293872, ENST00000337351, ENST00000397780, ENST00000397783, ENST00000418978, ENST00000419516, ENST00000426094, ENST00000428363, ENST00000429378, ENST00000430864, ENST00000442701, ENST00000443357, ENST00000464711, ENST00000467552, ENST00000468732, ENST00000469109, ENST00000490762, ENST00000494366, ENST00000494545, ENST00000495349, ENST00000629543, ENST00000862883, ENST00000862884, ENST00000920887, ENST00000920888, ENST00000920889, ENST00000920890, ENST00000920891, ENST00000949701, ENST00000949702
RefSeq mRNA: 4 — MANE Select: NM_201412
NM_001320226, NM_001330420, NM_018032, NM_201412
CCDS: CCDS10401, CCDS32348, CCDS81921
Canonical transcript exons
ENST00000293872 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00003464528 | 188990 | 189339 |
| ENSE00003469522 | 199062 | 199238 |
| ENSE00003527983 | 208078 | 208188 |
| ENSE00003529172 | 192927 | 193015 |
| ENSE00003602151 | 189968 | 190135 |
| ENSE00003643311 | 220649 | 220747 |
| ENSE00003681185 | 227242 | 227336 |
| ENSE00003784923 | 190541 | 190570 |
| ENSE00003787006 | 206004 | 206147 |
| ENSE00003902541 | 229279 | 229449 |
Expression profiles
Bgee: expression breadth ubiquitous, 280 present calls, max score 98.92.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 52.2463 / max 380.4320, expressed in 1822 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 155711 | 50.2728 | 1822 |
| 155710 | 1.1053 | 640 |
| 207685 | 0.8682 | 551 |
Top tissues by expression
290 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| tendon of biceps brachii | UBERON:0008188 | 98.92 | gold quality |
| sural nerve | UBERON:0015488 | 98.43 | gold quality |
| adenohypophysis | UBERON:0002196 | 98.35 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 98.25 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 98.14 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 97.90 | gold quality |
| pituitary gland | UBERON:0000007 | 97.89 | gold quality |
| right uterine tube | UBERON:0001302 | 97.88 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 97.88 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 97.77 | gold quality |
| cerebellar cortex | UBERON:0002129 | 97.76 | gold quality |
| thyroid gland | UBERON:0002046 | 97.69 | gold quality |
| endocervix | UBERON:0000458 | 97.66 | gold quality |
| body of uterus | UBERON:0009853 | 97.54 | gold quality |
| left ovary | UBERON:0002119 | 97.43 | gold quality |
| right ovary | UBERON:0002118 | 97.41 | gold quality |
| body of pancreas | UBERON:0001150 | 97.32 | gold quality |
| right frontal lobe | UBERON:0002810 | 97.12 | gold quality |
| granulocyte | CL:0000094 | 96.95 | gold quality |
| metanephros cortex | UBERON:0010533 | 96.91 | gold quality |
| cerebellum | UBERON:0002037 | 96.90 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 96.88 | gold quality |
| ganglionic eminence | UBERON:0004023 | 96.87 | gold quality |
| cortical plate | UBERON:0005343 | 96.86 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 96.72 | gold quality |
| cingulate cortex | UBERON:0003027 | 96.69 | gold quality |
| adrenal tissue | UBERON:0018303 | 96.69 | gold quality |
| left uterine tube | UBERON:0001303 | 96.64 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 96.55 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 96.54 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): E2F4
miRNA regulators (miRDB)
17 targeting LUC7L, 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-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-545-3P | 99.95 | 70.74 | 2783 |
| HSA-MIR-6508-5P | 99.92 | 70.67 | 2465 |
| HSA-MIR-8067 | 99.86 | 69.59 | 2260 |
| HSA-MIR-1283 | 99.69 | 72.42 | 3009 |
| HSA-MIR-7844-5P | 99.55 | 68.56 | 1428 |
| HSA-MIR-519D-5P | 99.41 | 69.30 | 2057 |
| HSA-MIR-4291 | 99.20 | 68.88 | 2969 |
| HSA-MIR-892C-5P | 99.16 | 70.56 | 2116 |
| HSA-MIR-7702 | 99.06 | 65.95 | 698 |
| HSA-MIR-361-5P | 98.95 | 70.16 | 1340 |
| HSA-MIR-4711-5P | 98.89 | 68.00 | 965 |
| HSA-MIR-374A-3P | 98.87 | 67.82 | 1531 |
| HSA-MIR-10395-3P | 98.10 | 66.70 | 1726 |
| HSA-MIR-506-5P | 98.02 | 67.41 | 1065 |
| HSA-MIR-151A-3P | 95.52 | 65.29 | 516 |
| HSA-MIR-1247-3P | 83.69 | 63.18 | 99 |
Literature-anchored findings (GeneRIF, showing 1)
- Functional analyses of human LUC7-like proteins involved in splicing regulation and myeloid neoplasms. (PMID:33852859)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | luc7l | ENSDARG00000055903 |
| mus_musculus | Luc7l | ENSMUSG00000024188 |
| rattus_norvegicus | Luc7l | ENSRNOG00000020488 |
| drosophila_melanogaster | CG7564 | FBGN0036734 |
| caenorhabditis_elegans | WBGENE00015207 |
Paralogs (2): LUC7L3 (ENSG00000108848), LUC7L2 (ENSG00000146963)
Protein
Protein identifiers
Putative RNA-binding protein Luc7-like 1 — Q9NQ29 (reviewed: Q9NQ29)
Alternative names: Putative SR protein LUC7B1, SR+89
All UniProt accessions (10): Q9NQ29, A8MYV2, B8ZZ08, B8ZZ09, B8ZZ10, B8ZZ12, F2Z322, F8WBC1, H7C2U4, Q1W6G4
UniProt curated annotations — full annotation on UniProt →
Function. May bind to RNA via its Arg/Ser-rich domain.
Tissue specificity. Ubiquitous.
Miscellaneous. May be due to an intron retention.
Similarity. Belongs to the Luc7 family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9NQ29-1 | 1 | yes |
| Q9NQ29-2 | 2 | |
| Q9NQ29-3 | 3 |
RefSeq proteins (4): NP_001307155, NP_001317349, NP_060502, NP_958815* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR004882 | Luc7-rel | Family |
Pfam: PF03194
UniProt features (14 total): compositionally biased region 4, modified residue 3, splice variant 2, coiled-coil region 2, chain 1, region of interest 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NQ29-F1 | 68.18 | 0.08 |
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 (3): 363, 332, 336
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 200 (showing top):
RRAGTTGT_UNKNOWN, AP1_01, GOBP_MUSCLE_TISSUE_DEVELOPMENT, HNF3ALPHA_Q6, TTTGTAG_MIR520D, RACCACAR_AML_Q6, GGGTGGRR_PAX4_03, CAGCTG_AP4_Q5, EVI1_05, GOBP_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS, GOBP_MUSCLE_STRUCTURE_DEVELOPMENT, MYOD_01, AML_Q6, BACH2_01, WTGAAAT_UNKNOWN
GO Biological Process (4): mRNA splice site recognition (GO:0006376), negative regulation of striated muscle tissue development (GO:0045843), mRNA processing (GO:0006397), RNA splicing (GO:0008380)
GO Molecular Function (4): mRNA binding (GO:0003729), identical protein binding (GO:0042802), RS domain binding (GO:0050733), protein binding (GO:0005515)
GO Cellular Component (3): U1 snRNP (GO:0005685), U2-type prespliceosome (GO:0071004), nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| RNA processing | 2 |
| spliceosomal complex assembly | 1 |
| protein-RNA complex assembly | 1 |
| striated muscle tissue development | 1 |
| regulation of striated muscle tissue development | 1 |
| negative regulation of muscle organ development | 1 |
| negative regulation of muscle tissue development | 1 |
| mRNA metabolic process | 1 |
| RNA binding | 1 |
| protein binding | 1 |
| protein domain specific binding | 1 |
| binding | 1 |
| spliceosomal snRNP complex | 1 |
| U2-type spliceosomal complex | 1 |
| U1 snRNP | 1 |
| U2 snRNP | 1 |
| prespliceosome | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
1282 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| LUC7L | RBM25 | P49756 | 982 |
| LUC7L | SNRNP70 | P08621 | 924 |
| LUC7L | RBM39 | Q14498 | 890 |
| LUC7L | PRPF40A | O75400 | 888 |
| LUC7L | SNRPC | P09234 | 880 |
| LUC7L | HBQ1 | P09105 | 856 |
| LUC7L | RSRC1 | Q96IZ7 | 855 |
| LUC7L | SRSF5 | Q13243 | 761 |
| LUC7L | SNRPA | P09012 | 747 |
| LUC7L | HBA1 | P01922 | 740 |
| LUC7L | U2AF1 | Q01081 | 698 |
| LUC7L | NCBP2 | P52298 | 653 |
| LUC7L | PRPF39 | Q86UA1 | 622 |
| LUC7L | SF3B3 | Q15393 | 619 |
| LUC7L | SRSF1 | Q07955 | 604 |
IntAct
122 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| EAF1 | ELL2 | psi-mi:“MI:0914”(association) | 0.840 |
| SRPK2 | LUC7L | psi-mi:“MI:0217”(phosphorylation reaction) | 0.780 |
| CSNK2B | RPS6KA5 | psi-mi:“MI:0914”(association) | 0.660 |
| CHCHD10 | CLPX | psi-mi:“MI:0914”(association) | 0.640 |
| LIN28A | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.640 |
| LUC7L | SRPK1 | psi-mi:“MI:0217”(phosphorylation reaction) | 0.640 |
| ZRANB2 | PIP4K2A | psi-mi:“MI:0914”(association) | 0.610 |
| NPM1 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.610 |
| LUC7L | SPRED1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| YWHAG | SHTN1 | psi-mi:“MI:0914”(association) | 0.560 |
| MAGEB2 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| LUC7L2 | ZNF593 | psi-mi:“MI:0914”(association) | 0.530 |
| CHERP | LUC7L | psi-mi:“MI:0915”(physical association) | 0.510 |
| LUC7L | LUC7L | psi-mi:“MI:0915”(physical association) | 0.510 |
| RNASEH1 | LUC7L | psi-mi:“MI:0915”(physical association) | 0.500 |
| LUC7L | TSC1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| LUC7L | PRDX1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| TCERG1 | LUC7L | psi-mi:“MI:0915”(physical association) | 0.370 |
| GADD45G | LUC7L | psi-mi:“MI:0915”(physical association) | 0.370 |
| CTNNBL1 | LUC7L | psi-mi:“MI:0915”(physical association) | 0.370 |
| LUC7L | PRMT5 | psi-mi:“MI:0915”(physical association) | 0.370 |
| Dynlrb1 | DYNC1LI2 | psi-mi:“MI:0914”(association) | 0.350 |
| C1qbp | psi-mi:“MI:0914”(association) | 0.350 | |
| NLRP3 | PHRF1 | psi-mi:“MI:0914”(association) | 0.350 |
| JUN | TPM3 | psi-mi:“MI:0914”(association) | 0.350 |
| Xpo1 | IFT56 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (400): LUC7L (Affinity Capture-MS), LUC7L (Affinity Capture-MS), LUC7L (Affinity Capture-MS), LUC7L (Affinity Capture-MS), LUC7L (Affinity Capture-MS), LUC7L2 (Affinity Capture-MS), RBM27 (Affinity Capture-MS), RBM26 (Affinity Capture-MS), ZFP91 (Affinity Capture-MS), MRPL46 (Affinity Capture-MS), EIF2B1 (Affinity Capture-MS), ZC3H18 (Affinity Capture-MS), NKAP (Affinity Capture-MS), BCLAF1 (Affinity Capture-MS), THRAP3 (Affinity Capture-MS)
ESM2 similar proteins: A2AQ19, B2GV05, O54941, O55047, O95232, P08621, P09406, P23588, P50502, P52756, P97762, Q07866, Q08CW1, Q13123, Q1ECX4, Q1RMR2, Q1RMU5, Q32KT0, Q3SX41, Q56A18, Q5NVI3, Q5R8W6, Q5RAD5, Q5RF31, Q5SRX1, Q5SUF2, Q5U2T8, Q5U2U0, Q5ZI03, Q62376, Q66HG8, Q66II8, Q6PH81, Q7TNC4, Q86UE8, Q86X95, Q8BGD9, Q8C0V0, Q8TA86, Q90ZY6
Diamond homologs: O95232, Q07508, Q3SX41, Q54XQ8, Q5R8W6, Q5SUF2, Q7TNC4, Q9CYI4, Q9NQ29, Q9USM4, Q9VVI1, Q9Y383, Q09217
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 147 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 |
|---|---|---|---|
| Transport of Mature Transcript to Cytoplasm | 5 | 18.7× | 1e-04 |
| RNA Polymerase II Transcription Termination | 8 | 17.2× | 4e-07 |
| mRNA 3’-end processing | 8 | 15.4× | 1e-06 |
| Nonsense-Mediated Decay (NMD) | 6 | 13.7× | 1e-04 |
| Peptide chain elongation | 11 | 13.7× | 4e-08 |
| Viral mRNA Translation | 11 | 13.7× | 4e-08 |
| PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA | 11 | 13.5× | 4e-08 |
| Selenocysteine synthesis | 11 | 13.0× | 4e-08 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| negative regulation of mRNA splicing, via spliceosome | 6 | 34.8× | 4e-06 |
| cytoplasmic translation | 12 | 16.8× | 5e-09 |
| ribosomal small subunit biogenesis | 7 | 12.1× | 3e-04 |
| RNA processing | 7 | 11.6× | 3e-04 |
| regulation of alternative mRNA splicing, via spliceosome | 6 | 11.1× | 1e-03 |
| translation | 13 | 10.1× | 2e-07 |
| RNA splicing | 12 | 8.0× | 7e-06 |
| mRNA splicing, via spliceosome | 10 | 6.9× | 3e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
72 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 53 |
| Likely benign | 3 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 15680 | NC_000016.10:g.174045_192395del | Pathogenic |
SpliceAI
2065 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:189929:A:AC | donor_gain | 1.0000 |
| 16:189929:ACT:A | donor_gain | 1.0000 |
| 16:189930:C:CC | donor_gain | 1.0000 |
| 16:189930:CTC:C | donor_gain | 1.0000 |
| 16:189966:A:AC | donor_gain | 1.0000 |
| 16:189967:C:CC | donor_gain | 1.0000 |
| 16:192925:ACCT:A | donor_gain | 1.0000 |
| 16:192926:CCTC:C | donor_gain | 1.0000 |
| 16:192928:T:TA | donor_gain | 1.0000 |
| 16:193013:TTT:T | acceptor_gain | 1.0000 |
| 16:199056:ACAT:A | donor_loss | 1.0000 |
| 16:199057:CATA:C | donor_loss | 1.0000 |
| 16:199060:A:T | donor_loss | 1.0000 |
| 16:199060:AC:A | donor_gain | 1.0000 |
| 16:199061:C:T | donor_loss | 1.0000 |
| 16:199061:CC:C | donor_gain | 1.0000 |
| 16:199067:A:C | donor_gain | 1.0000 |
| 16:199111:TTGC:T | donor_gain | 1.0000 |
| 16:199112:TGCC:T | donor_gain | 1.0000 |
| 16:199235:CTTC:C | acceptor_gain | 1.0000 |
| 16:199236:TTC:T | acceptor_gain | 1.0000 |
| 16:199238:CCT:C | acceptor_loss | 1.0000 |
| 16:199239:C:CA | acceptor_loss | 1.0000 |
| 16:199239:C:CC | acceptor_gain | 1.0000 |
| 16:205994:T:C | donor_gain | 1.0000 |
| 16:206041:T:TA | donor_gain | 1.0000 |
| 16:206144:CTGC:C | acceptor_gain | 1.0000 |
| 16:206147:CCT:C | acceptor_loss | 1.0000 |
| 16:206148:C:CC | acceptor_gain | 1.0000 |
| 16:206148:CTGTG:C | acceptor_loss | 1.0000 |
AlphaMissense
2417 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 16:199075:A:G | L225P | 1.000 |
| 16:199084:C:G | R222P | 1.000 |
| 16:199085:G:C | R222G | 1.000 |
| 16:199095:G:C | F218L | 1.000 |
| 16:199095:G:T | F218L | 1.000 |
| 16:199096:A:G | F218S | 1.000 |
| 16:199097:A:G | F218L | 1.000 |
| 16:199099:C:T | G217E | 1.000 |
| 16:199100:C:A | G217W | 1.000 |
| 16:199100:C:G | G217R | 1.000 |
| 16:199100:C:T | G217R | 1.000 |
| 16:199104:G:C | H215Q | 1.000 |
| 16:199104:G:T | H215Q | 1.000 |
| 16:199105:T:C | H215R | 1.000 |
| 16:199106:G:C | H215D | 1.000 |
| 16:199106:G:T | H215N | 1.000 |
| 16:199108:A:G | L214S | 1.000 |
| 16:199110:C:A | K213N | 1.000 |
| 16:199110:C:G | K213N | 1.000 |
| 16:199112:T:C | K213E | 1.000 |
| 16:199114:C:A | G212V | 1.000 |
| 16:199114:C:G | G212A | 1.000 |
| 16:199114:C:T | G212D | 1.000 |
| 16:199115:C:A | G212C | 1.000 |
| 16:199115:C:G | G212R | 1.000 |
| 16:199115:C:T | G212S | 1.000 |
| 16:199117:C:T | G211D | 1.000 |
| 16:199119:G:C | F210L | 1.000 |
| 16:199119:G:T | F210L | 1.000 |
| 16:199120:A:C | F210C | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000034731 (16:218416 G>T), RS1000191719 (16:200967 A>G), RS1000292110 (16:214091 G>GC), RS1000320242 (16:215584 T>C), RS1000344083 (16:208030 G>C), RS1000379162 (16:223272 CAG>C), RS1000379851 (16:210741 G>A), RS1000395119 (16:205908 A>T), RS1000576118 (16:215083 CTTTT>C,CTT,CTTT,CTTTTT), RS1000616026 (16:229092 C>A,G,T), RS1000691185 (16:229259 G>A,C,T), RS1000692070 (16:196135 C>T), RS1000729919 (16:209532 A>G), RS1000838907 (16:204491 G>A), RS1000856362 (16:215217 A>G)
Disease associations
OMIM: gene MIM:607782 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
28 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000587_1 | Mean corpuscular hemoglobin | 3.000000e-09 |
| GCST004334_13 | Mean corpuscular hemoglobin | 5.000000e-07 |
| GCST004602_221 | Mean corpuscular volume | 4.000000e-38 |
| GCST004605_11 | Mean corpuscular hemoglobin concentration | 2.000000e-11 |
| GCST004615_103 | Hemoglobin concentration | 7.000000e-12 |
| GCST004615_104 | Hemoglobin concentration | 4.000000e-10 |
| GCST004621_82 | Red cell distribution width | 3.000000e-14 |
| GCST004630_170 | Mean corpuscular hemoglobin | 6.000000e-68 |
| GCST006804_150 | Red cell distribution width | 2.000000e-10 |
| GCST006979_944 | Heel bone mineral density | 8.000000e-10 |
| GCST90002385_68 | High light scatter reticulocyte count | 3.000000e-14 |
| GCST90002385_69 | High light scatter reticulocyte count | 4.000000e-16 |
| GCST90002386_277 | High light scatter reticulocyte percentage of red cells | 1.000000e-15 |
| GCST90002390_631 | Mean corpuscular hemoglobin | 1.000000e-65 |
| GCST90002390_632 | Mean corpuscular hemoglobin | 6.000000e-31 |
| GCST90002391_162 | Mean corpuscular hemoglobin concentration | 3.000000e-39 |
| GCST90002391_163 | Mean corpuscular hemoglobin concentration | 8.000000e-30 |
| GCST90002391_164 | Mean corpuscular hemoglobin concentration | 1.000000e-09 |
| GCST90002392_478 | Mean corpuscular volume | 9.000000e-53 |
| GCST90002392_479 | Mean corpuscular volume | 2.000000e-26 |
| GCST90002396_646 | Mean reticulocyte volume | 4.000000e-40 |
| GCST90002397_274 | Mean spheric corpuscular volume | 3.000000e-24 |
| GCST90002403_658 | Red blood cell count | 9.000000e-20 |
| GCST90002403_659 | Red blood cell count | 3.000000e-11 |
| GCST90002404_330 | Red cell distribution width | 1.000000e-34 |
| GCST90002405_352 | Reticulocyte count | 4.000000e-21 |
| GCST90002405_353 | Reticulocyte count | 4.000000e-14 |
| GCST90002406_428 | Reticulocyte fraction of red cells | 2.000000e-13 |
EFO canonical traits (8, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004509 | hemoglobin measurement |
| EFO:0004527 | mean corpuscular hemoglobin |
| EFO:0004528 | mean corpuscular hemoglobin concentration |
| EFO:0009188 | Red cell distribution width |
| EFO:0009270 | heel bone mineral density |
| EFO:0007986 | reticulocyte count |
| EFO:0010701 | mean reticulocyte volume |
| EFO:0004305 | erythrocyte count |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
51 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression, affects expression | 6 |
| bisphenol A | affects cotreatment, increases methylation, increases expression, decreases reaction, increases abundance | 3 |
| sodium arsenite | decreases expression | 2 |
| Hydrogen Peroxide | increases expression, affects expression | 2 |
| Tobacco Smoke Pollution | decreases expression, decreases methylation | 2 |
| FR900359 | affects phosphorylation | 1 |
| bisphenol F | affects cotreatment, decreases expression | 1 |
| ginger extract | increases expression, decreases reaction, increases abundance | 1 |
| alpha-pinene | increases abundance, affects cotreatment, increases oxidation | 1 |
| deoxynivalenol | increases expression | 1 |
| beta-lapachone | decreases expression, increases expression | 1 |
| aflatoxin B2 | increases methylation | 1 |
| coumarin | increases phosphorylation | 1 |
| methacrylaldehyde | affects cotreatment, increases oxidation, increases abundance | 1 |
| avobenzone | 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 |
| abrine | increases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| bisphenol S | affects cotreatment, decreases expression | 1 |
| PCI 5002 | affects cotreatment, increases expression | 1 |
| 3-(2-hydroxy-4-(2-methylnonan-2-yl)phenyl)cyclohexan-1-ol | decreases expression | 1 |
| Bortezomib | increases expression | 1 |
| Resveratrol | increases expression, affects cotreatment | 1 |
| Temozolomide | increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Vorinostat | decreases expression | 1 |
| Acrolein | affects cotreatment, increases oxidation, increases abundance | 1 |
| Air Pollutants | increases oxidation, affects cotreatment, increases abundance | 1 |
| Benzo(a)pyrene | affects methylation | 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.