NGDN
gene geneOn this page
Also known as DKFZP564O092LCP5lpd-2NGDCANu1
Summary
NGDN (neuroguidin, HGNC:20271) is a protein-coding gene on chromosome 14q11.2, encoding Neuroguidin (Q8NEJ9). Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. It is a selective cancer dependency (DepMap: 43.5% of cell lines).
Neuroguidin is an EIF4E (MIM 133440)-binding protein that interacts with CPEB (MIM 607342) and functions as a translational regulatory protein during development of the vertebrate nervous system (Jung et al., 2006 [PubMed 16705177]).
Source: NCBI Gene 25983 — RefSeq curated summary.
At a glance
- GWAS associations: 15
- Clinical variants (ClinVar): 76 total
- Cancer dependency (DepMap): dependent in 43.5% of screened cell lines
- MANE Select transcript:
NM_001042635
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:20271 |
| Approved symbol | NGDN |
| Name | neuroguidin |
| Location | 14q11.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DKFZP564O092, LCP5, lpd-2, NGD, CANu1 |
| Ensembl gene | ENSG00000129460 |
| Ensembl biotype | protein_coding |
| OMIM | 610777 |
| Entrez | 25983 |
Gene structure
Transcript identifiers
Ensembl transcripts: 32 — 22 retained_intron, 10 protein_coding
ENST00000397154, ENST00000408901, ENST00000553336, ENST00000553439, ENST00000555128, ENST00000556103, ENST00000556378, ENST00000556483, ENST00000556580, ENST00000556699, ENST00000556953, ENST00000557097, ENST00000703184, ENST00000703185, ENST00000703186, ENST00000703187, ENST00000703188, ENST00000703189, ENST00000703190, ENST00000703191, ENST00000703192, ENST00000703193, ENST00000703194, ENST00000703195, ENST00000703196, ENST00000703197, ENST00000703256, ENST00000703257, ENST00000703258, ENST00000924623, ENST00000924624, ENST00000955477
RefSeq mRNA: 2 — MANE Select: NM_001042635
NM_001042635, NM_015514
CCDS: CCDS32051, CCDS41926
Canonical transcript exons
ENST00000408901 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001579299 | 23477503 | 23477560 |
| ENSE00002485717 | 23477200 | 23477356 |
| ENSE00003988296 | 23475726 | 23475778 |
| ENSE00003988297 | 23475558 | 23475642 |
| ENSE00003988312 | 23476029 | 23476152 |
| ENSE00003988313 | 23476239 | 23476407 |
| ENSE00003988322 | 23475171 | 23475308 |
| ENSE00003988479 | 23478007 | 23478173 |
| ENSE00003988480 | 23470042 | 23470101 |
| ENSE00003988482 | 23469703 | 23469727 |
| ENSE00003988486 | 23470906 | 23470977 |
Expression profiles
Bgee: expression breadth ubiquitous, 293 present calls, max score 96.17.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.6772 / max 177.2784, expressed in 1759 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 138931 | 9.6772 | 1759 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| oocyte | CL:0000023 | 96.17 | gold quality |
| calcaneal tendon | UBERON:0003701 | 95.60 | gold quality |
| ventricular zone | UBERON:0003053 | 95.32 | gold quality |
| left ovary | UBERON:0002119 | 95.01 | gold quality |
| body of uterus | UBERON:0009853 | 94.99 | gold quality |
| right ovary | UBERON:0002118 | 94.90 | gold quality |
| tibial nerve | UBERON:0001323 | 94.79 | gold quality |
| skin of abdomen | UBERON:0001416 | 94.78 | gold quality |
| skin of leg | UBERON:0001511 | 94.42 | gold quality |
| endocervix | UBERON:0000458 | 94.17 | gold quality |
| ganglionic eminence | UBERON:0004023 | 94.16 | gold quality |
| left uterine tube | UBERON:0001303 | 94.05 | gold quality |
| gastrocnemius | UBERON:0001388 | 94.01 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 94.01 | gold quality |
| cortical plate | UBERON:0005343 | 93.94 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 93.93 | gold quality |
| popliteal artery | UBERON:0002250 | 93.88 | gold quality |
| tibial artery | UBERON:0007610 | 93.88 | gold quality |
| cerebellar cortex | UBERON:0002129 | 93.85 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 93.82 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 93.81 | gold quality |
| islet of Langerhans | UBERON:0000006 | 93.74 | gold quality |
| muscle of leg | UBERON:0001383 | 93.69 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 93.63 | gold quality |
| omental fat pad | UBERON:0010414 | 93.62 | gold quality |
| peritoneum | UBERON:0002358 | 93.61 | gold quality |
| zone of skin | UBERON:0000014 | 93.55 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 93.55 | gold quality |
| mucosa of stomach | UBERON:0001199 | 93.55 | gold quality |
| aorta | UBERON:0000947 | 93.54 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-110499 | no | 526.73 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
18 targeting NGDN, 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-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-3692-3P | 99.98 | 70.27 | 2139 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-6744-5P | 99.93 | 66.82 | 748 |
| HSA-MIR-4760-3P | 99.93 | 70.50 | 2385 |
| HSA-MIR-381-3P | 99.93 | 71.87 | 2854 |
| HSA-MIR-300 | 99.92 | 71.76 | 2856 |
| HSA-MIR-10523-5P | 99.91 | 69.22 | 2038 |
| HSA-MIR-10527-5P | 99.91 | 72.28 | 3754 |
| HSA-MIR-7113-5P | 97.88 | 67.33 | 1735 |
| HSA-MIR-3664-3P | 97.85 | 67.62 | 1452 |
| HSA-MIR-6085 | 96.57 | 64.11 | 621 |
| HSA-MIR-6813-5P | 94.68 | 64.20 | 588 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 43.5% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 3)
- Study isolated a novel human gene, to be called as CANu1, by the large-scale genome-wide association analysis to screen specific Single nucleotide polymorphisms in colon cancer. (PMID:18547334)
- poly(A) polymerase Gld2, deadenylase PARN, and translation inhibitory factor neuroguidin (Ngd) are components of a dendritic CPEB-associated polyadenylation apparatus (PMID:22727665)
- the results of this study in vitro confirmed that NGDN over-expression can increase the sensitivity of human myeloid multidrug-resistant leukemia cells to chemotherapeutic drugs (PMID:25887473)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ngdn | ENSDARG00000045372 |
| mus_musculus | Ngdn | ENSMUSG00000022204 |
| rattus_norvegicus | Ngdn | ENSRNOG00000018069 |
| drosophila_melanogaster | CG11030 | FBGN0031736 |
| caenorhabditis_elegans | lpd-2 | WBGENE00003059 |
Paralogs (1): UTP3 (ENSG00000132467)
Protein
Protein identifiers
Neuroguidin — Q8NEJ9 (reviewed: Q8NEJ9)
Alternative names: Centromere accumulated nuclear protein 1, EIF4E-binding protein
All UniProt accessions (6): Q8NEJ9, A0A8V8TQS3, A0A8V8TRJ3, G3V4G1, H0YJ17, H0YJQ1
UniProt curated annotations — full annotation on UniProt →
Function. Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre-rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted degradation of pre-ribosomal RNA by the RNA exosome. Its dissociation from the complex determines the transition from state pre-A1 to state pre-A1*. Inhibits mRNA translation in a cytoplasmic polyadenylation element (CPE)-dependent manner.
Subunit / interactions. Part of the small subunit (SSU) processome, composed of more than 70 proteins and the RNA chaperone small nucleolar RNA (snoRNA) U3. Interacts with CPEB1 and EIF4E.
Subcellular location. Nucleus. Nucleolus. Chromosome. Centromere. Cytoplasm. Cell projection. Axon. Dendrite. Filopodium.
Miscellaneous. May be due to a competing donor splice site.
Similarity. Belongs to the SAS10 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8NEJ9-1 | 1 | yes |
| Q8NEJ9-2 | 2 |
RefSeq proteins (2): NP_001036100, NP_056329 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR007146 | Sas10/Utp3/C1D | Family |
Pfam: PF04000
UniProt features (19 total): modified residue 6, region of interest 3, splice variant 2, sequence variant 2, coiled-coil region 2, compositionally biased region 2, initiator methionine 1, chain 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7MQ8 | ELECTRON MICROSCOPY | 3.6 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8NEJ9-F1 | 75.85 | 0.29 |
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 (6): 121, 142, 143, 204, 214, 2
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 154 (showing top):
GOBP_RIBOSOME_BIOGENESIS, GOBP_MATURATION_OF_SSU_RRNA, MORF_UBE2I, PUJANA_CHEK2_PCC_NETWORK, GOBP_TRANSLATION, GOBP_POST_TRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION, WANG_LMO4_TARGETS_DN, BLALOCK_ALZHEIMERS_DISEASE_UP, GOBP_RIBOSOMAL_SMALL_SUBUNIT_BIOGENESIS, GOBP_MATURATION_OF_SSU_RRNA_FROM_TRICISTRONIC_RRNA_TRANSCRIPT_SSU_RRNA_5_8S_RRNA_LSU_RRNA, GOCC_NEURON_PROJECTION, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, GOBP_RIBONUCLEOPROTEIN_COMPLEX_BIOGENESIS, GOCC_FILOPODIUM, GOCC_CHROMOSOMAL_REGION
GO Biological Process (3): maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462), regulation of translation (GO:0006417), ribosomal small subunit biogenesis (GO:0042274)
GO Molecular Function (2): RNA binding (GO:0003723), protein binding (GO:0005515)
GO Cellular Component (12): chromosome, centromeric region (GO:0000775), nucleoplasm (GO:0005654), nucleolus (GO:0005730), mitochondrion (GO:0005739), filopodium (GO:0030175), axon (GO:0030424), dendrite (GO:0030425), small-subunit processome (GO:0032040), nucleus (GO:0005634), chromosome (GO:0005694), cytoplasm (GO:0005737), cell projection (GO:0042995)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| nuclear lumen | 2 |
| intracellular membraneless organelle | 2 |
| intracellular membrane-bounded organelle | 2 |
| neuron projection | 2 |
| maturation of SSU-rRNA | 1 |
| translation | 1 |
| post-transcriptional regulation of gene expression | 1 |
| regulation of protein metabolic process | 1 |
| ribonucleoprotein complex biogenesis | 1 |
| ribosome biogenesis | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| chromosomal region | 1 |
| cytoplasm | 1 |
| actin-based cell projection | 1 |
| dendritic tree | 1 |
| nucleolus | 1 |
| preribosome | 1 |
| t-UTP complex | 1 |
| nuclear protein-containing complex | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
2185 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| NGDN | EIF4E | P06730 | 998 |
| NGDN | CPEB1 | Q9BZB8 | 961 |
| NGDN | NOL10 | Q9BSC4 | 862 |
| NGDN | TENT2 | Q6PIY7 | 861 |
| NGDN | PARN | O95453 | 839 |
| NGDN | SYMPK | Q92797 | 820 |
| NGDN | EIF4ENIF1 | Q9NRA8 | 793 |
| NGDN | AATF | Q9NY61 | 791 |
| NGDN | EIF4G1 | Q04637 | 721 |
| NGDN | ABT1 | Q9ULW3 | 705 |
| NGDN | PNLDC1 | Q8NA58 | 705 |
| NGDN | RPTOR | Q8N122 | 704 |
| NGDN | PAPOLB | Q9NRJ5 | 688 |
| NGDN | PAPOLA | P51003 | 686 |
| NGDN | PAPOLG | Q9BWT3 | 686 |
IntAct
115 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| AATF | NGDN | psi-mi:“MI:0915”(physical association) | 0.810 |
| AATF | NGDN | psi-mi:“MI:0914”(association) | 0.810 |
| PKN3 | ARHGAP10 | psi-mi:“MI:0914”(association) | 0.680 |
| rep | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.660 |
| LIN28A | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.640 |
| NPM1 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.610 |
| MFAP1 | NGDN | psi-mi:“MI:0915”(physical association) | 0.560 |
| CSNK2B | NGDN | psi-mi:“MI:0915”(physical association) | 0.560 |
| NOM1 | NGDN | psi-mi:“MI:0915”(physical association) | 0.560 |
| RPS3 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| H1-6 | ZNF724 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF512 | ZNF724 | psi-mi:“MI:0914”(association) | 0.530 |
| RPS2 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.530 |
| KRR1 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.530 |
| ABT1 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| NOL10 | DDX10 | psi-mi:“MI:0914”(association) | 0.530 |
| NGDN | psi-mi:“MI:0915”(physical association) | 0.500 | |
| NGDN | SLC16A1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| RRP1B | ZNF785 | psi-mi:“MI:0914”(association) | 0.350 |
| psi-mi:“MI:0914”(association) | 0.350 | ||
| Prdm16 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (158): AATF (Two-hybrid), NGDN (Affinity Capture-MS), NGDN (Affinity Capture-MS), NGDN (Affinity Capture-MS), NGDN (Affinity Capture-MS), NGDN (Affinity Capture-MS), UTP3 (Co-fractionation), NGDN (Affinity Capture-MS), NGDN (Biochemical Activity), NGDN (Affinity Capture-MS), NGDN (Affinity Capture-MS), NGDN (Affinity Capture-MS), NGDN (Affinity Capture-MS), NGDN (Proximity Label-MS), NGDN (Affinity Capture-MS)
ESM2 similar proteins: A1A5P2, A6QNR1, A8WY26, D3ZND0, O15213, O59678, P27672, P78316, Q0V8M0, Q15050, Q24K12, Q28IV8, Q2KIH4, Q2KII6, Q3T0Q8, Q3T0Z5, Q3UFY0, Q4KLC4, Q5M985, Q5RAS1, Q5RJT2, Q5TAP6, Q5TJE7, Q5ZKM1, Q640M1, Q6EJB6, Q6P0I6, Q6PFJ1, Q8BK35, Q8IY81, Q8N9T8, Q8NEJ9, Q8R3N1, Q8VDQ9, Q96BZ8, Q96EU6, Q9BRP8, Q9BRR8, Q9BVJ6, Q9C086
Diamond homologs: Q09713, Q2KII6, Q8NEJ9, Q9DB96, Q28IV8, Q4KLC4, Q5M985, Q6PFJ1, Q6AXX4, Q8L3P4, Q9JI13, Q9NQZ2, Q1MTS0, Q9I7W5
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 111 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 |
|---|---|---|---|
| Eukaryotic Translation Initiation | 11 | 44.7× | 7e-15 |
| Cap-dependent Translation Initiation | 11 | 44.7× | 7e-15 |
| SARS-CoV-1 modulates host translation machinery | 11 | 44.7× | 7e-15 |
| Eukaryotic Translation Elongation | 11 | 40.3× | 2e-14 |
| Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S | 11 | 39.4× | 3e-14 |
| Nonsense-Mediated Decay (NMD) | 11 | 33.7× | 2e-13 |
| Peptide chain elongation | 20 | 33.4× | 1e-23 |
| Viral mRNA Translation | 20 | 33.4× | 1e-23 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| cytoplasmic translation | 21 | 37.8× | 4e-25 |
| ribosomal small subunit biogenesis | 13 | 28.7× | 1e-13 |
| translation | 19 | 19.0× | 8e-17 |
| rRNA processing | 10 | 13.8× | 5e-07 |
| RNA processing | 5 | 10.6× | 8e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
76 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 61 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1143 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 14:23470040:AGGG:A | acceptor_gain | 1.0000 |
| 14:23470041:GGGG:G | acceptor_gain | 1.0000 |
| 14:23470098:GCAA:G | donor_gain | 1.0000 |
| 14:23470102:G:GG | donor_gain | 1.0000 |
| 14:23470889:ATTT:A | acceptor_gain | 1.0000 |
| 14:23470889:ATTTG:A | acceptor_gain | 1.0000 |
| 14:23470892:T:A | acceptor_gain | 1.0000 |
| 14:23470893:G:A | acceptor_gain | 1.0000 |
| 14:23470898:A:AG | acceptor_gain | 1.0000 |
| 14:23470900:TTTCA:T | acceptor_loss | 1.0000 |
| 14:23470901:TTCAG:T | acceptor_loss | 1.0000 |
| 14:23470902:TCAGG:T | acceptor_loss | 1.0000 |
| 14:23470904:A:AG | acceptor_gain | 1.0000 |
| 14:23470904:AG:A | acceptor_gain | 1.0000 |
| 14:23470904:AGGT:A | acceptor_gain | 1.0000 |
| 14:23470905:G:A | acceptor_loss | 1.0000 |
| 14:23470905:G:GT | acceptor_gain | 1.0000 |
| 14:23470905:GG:G | acceptor_gain | 1.0000 |
| 14:23470905:GGT:G | acceptor_gain | 1.0000 |
| 14:23470905:GGTG:G | acceptor_gain | 1.0000 |
| 14:23470975:AAGG:A | donor_loss | 1.0000 |
| 14:23470975:AAGGT:A | donor_gain | 1.0000 |
| 14:23470976:AGG:A | donor_gain | 1.0000 |
| 14:23470977:GGTAA:G | donor_gain | 1.0000 |
| 14:23470978:G:GG | donor_gain | 1.0000 |
| 14:23470978:GTA:G | donor_gain | 1.0000 |
| 14:23470979:T:A | donor_gain | 1.0000 |
| 14:23475154:T:A | acceptor_gain | 1.0000 |
| 14:23475159:T:A | acceptor_gain | 1.0000 |
| 14:23475164:A:AG | acceptor_gain | 1.0000 |
AlphaMissense
2063 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 14:23476320:T:C | L209P | 0.997 |
| 14:23476320:T:A | L209H | 0.996 |
| 14:23477212:G:C | E242D | 0.996 |
| 14:23477212:G:T | E242D | 0.996 |
| 14:23475592:T:C | L106P | 0.994 |
| 14:23477211:A:T | E242V | 0.994 |
| 14:23475304:G:C | R93P | 0.993 |
| 14:23476119:T:C | Y171H | 0.990 |
| 14:23477228:C:A | R248S | 0.989 |
| 14:23475202:T:C | L59P | 0.987 |
| 14:23477309:T:C | F275L | 0.987 |
| 14:23477311:C:A | F275L | 0.987 |
| 14:23477311:C:G | F275L | 0.987 |
| 14:23475609:A:G | K112E | 0.986 |
| 14:23475611:G:C | K112N | 0.986 |
| 14:23475611:G:T | K112N | 0.986 |
| 14:23476308:T:A | V205D | 0.986 |
| 14:23476292:G:C | A200P | 0.985 |
| 14:23475235:T:C | L70P | 0.984 |
| 14:23476311:T:A | I206N | 0.984 |
| 14:23476344:C:A | P217Q | 0.984 |
| 14:23475194:A:C | K56N | 0.983 |
| 14:23475194:A:T | K56N | 0.983 |
| 14:23475217:T:C | L64P | 0.983 |
| 14:23476120:A:G | Y171C | 0.983 |
| 14:23476320:T:G | L209R | 0.983 |
| 14:23475613:T:C | L113P | 0.982 |
| 14:23476119:T:G | Y171D | 0.982 |
| 14:23476301:A:C | S203R | 0.982 |
| 14:23476303:C:A | S203R | 0.982 |
dbSNP variants (sampled 300 via entrez): RS1000009557 (14:23474579 A>C,G), RS1000615173 (14:23476038 G>A,C), RS1000677117 (14:23473991 C>G,T), RS1001025190 (14:23475674 G>A,C), RS1001403420 (14:23474974 C>T), RS1001455882 (14:23474724 T>G), RS1001842060 (14:23470874 C>T), RS1002354505 (14:23478651 G>T), RS1002376027 (14:23470561 G>A), RS1002465148 (14:23472902 G>A), RS1002657377 (14:23473079 G>A), RS1002846471 (14:23470146 T>C), RS1002962381 (14:23470432 T>A), RS1003078753 (14:23476310 A>G), RS1003118971 (14:23475515 T>C,G)
Disease associations
OMIM: gene MIM:610777 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
15 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST010796_5083 | Electrocardiogram morphology (amplitude at temporal datapoints) | 3.000000e-20 |
| GCST010796_5084 | Electrocardiogram morphology (amplitude at temporal datapoints) | 1.000000e-08 |
| GCST010796_5085 | Electrocardiogram morphology (amplitude at temporal datapoints) | 3.000000e-09 |
| GCST010796_5086 | Electrocardiogram morphology (amplitude at temporal datapoints) | 7.000000e-11 |
| GCST010796_5087 | Electrocardiogram morphology (amplitude at temporal datapoints) | 2.000000e-12 |
| GCST010796_5088 | Electrocardiogram morphology (amplitude at temporal datapoints) | 2.000000e-13 |
| GCST010796_5089 | Electrocardiogram morphology (amplitude at temporal datapoints) | 1.000000e-14 |
| GCST010796_5090 | Electrocardiogram morphology (amplitude at temporal datapoints) | 1.000000e-15 |
| GCST010796_5091 | Electrocardiogram morphology (amplitude at temporal datapoints) | 3.000000e-16 |
| GCST010796_5092 | Electrocardiogram morphology (amplitude at temporal datapoints) | 3.000000e-17 |
| GCST010796_5093 | Electrocardiogram morphology (amplitude at temporal datapoints) | 2.000000e-18 |
| GCST010796_5094 | Electrocardiogram morphology (amplitude at temporal datapoints) | 5.000000e-19 |
| GCST010796_5095 | Electrocardiogram morphology (amplitude at temporal datapoints) | 3.000000e-19 |
| GCST010796_5096 | Electrocardiogram morphology (amplitude at temporal datapoints) | 1.000000e-19 |
| GCST010796_5097 | Electrocardiogram morphology (amplitude at temporal datapoints) | 9.000000e-20 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004327 | electrocardiography |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
30 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Tobacco Smoke Pollution | affects expression, increases expression | 2 |
| FR900359 | affects phosphorylation | 1 |
| dicrotophos | decreases expression | 1 |
| bisphenol A | decreases expression | 1 |
| deoxynivalenol | increases expression | 1 |
| beta-lapachone | increases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| zinc chromate | increases expression, increases abundance | 1 |
| coumarin | increases phosphorylation | 1 |
| chromium hexavalent ion | increases abundance, increases expression | 1 |
| cylindrospermopsin | 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 | decreases expression | 1 |
| abrine | increases expression | 1 |
| LDN 193189 | affects cotreatment, decreases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Arsenic | affects methylation | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Copper | affects binding, decreases expression | 1 |
| Disulfiram | affects binding, decreases expression | 1 |
| Formaldehyde | increases expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Dronabinol | decreases expression | 1 |
| Thiram | increases expression | 1 |
| Valproic Acid | affects expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Cadmium Chloride | decreases expression | 1 |
| Copper Sulfate | 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.