KLC3
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Also known as KLC2LKNS2BKLCt
Summary
KLC3 (kinesin light chain 3, HGNC:20717) is a protein-coding gene on chromosome 19q13.32, encoding Kinesin light chain 3 (Q6P597). Kinesin is a microtubule-associated force-producing protein that may play a role in organelle transport.
This gene encodes a member of the kinesin light chain gene family. Kinesins are molecular motors involved in the transport of cargo along microtubules, and are composed of two kinesin heavy chain (KHC) and two kinesin light chain (KLC) molecules. KLCs are thought to typically be involved in binding cargo and regulating kinesin activity. In the rat, a protein similar to this gene product is expressed in post-meiotic spermatids, where it associates with structural components of sperm tails and mitochondria.
Source: NCBI Gene 147700 — RefSeq curated summary.
At a glance
- GWAS associations: 5
- Clinical variants (ClinVar): 113 total
- MANE Select transcript:
NM_177417
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:20717 |
| Approved symbol | KLC3 |
| Name | kinesin light chain 3 |
| Location | 19q13.32 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KLC2L, KNS2B, KLCt |
| Ensembl gene | ENSG00000104892 |
| Ensembl biotype | protein_coding |
| OMIM | 601334 |
| Entrez | 147700 |
Gene structure
Transcript identifiers
Ensembl transcripts: 13 — 12 protein_coding, 1 retained_intron
ENST00000391946, ENST00000470402, ENST00000494686, ENST00000585434, ENST00000589373, ENST00000589837, ENST00000590063, ENST00000892165, ENST00000892166, ENST00000913427, ENST00000913428, ENST00000913429, ENST00000960866
RefSeq mRNA: 1 — MANE Select: NM_177417
NM_177417
CCDS: CCDS12660
Canonical transcript exons
ENST00000391946 — 13 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000712909 | 45349429 | 45349602 |
| ENSE00000712915 | 45348646 | 45348733 |
| ENSE00000861593 | 45350341 | 45350431 |
| ENSE00000861594 | 45347941 | 45348160 |
| ENSE00000894002 | 45348820 | 45348921 |
| ENSE00000953153 | 45347447 | 45347516 |
| ENSE00001048755 | 45350641 | 45350747 |
| ENSE00001048756 | 45350514 | 45350551 |
| ENSE00001281581 | 45350954 | 45351017 |
| ENSE00001281678 | 45346544 | 45346774 |
| ENSE00001951357 | 45340750 | 45340846 |
| ENSE00003561556 | 45345534 | 45345799 |
| ENSE00003847492 | 45351286 | 45351519 |
Expression profiles
Bgee: expression breadth ubiquitous, 189 present calls, max score 97.62.
FANTOM5 (CAGE): breadth broad, TPM avg 1.5748 / max 57.4473, expressed in 425 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 176406 | 1.1569 | 374 |
| 176408 | 0.1874 | 79 |
| 176407 | 0.1856 | 87 |
| 208861 | 0.0236 | 9 |
| 176409 | 0.0213 | 9 |
Top tissues by expression
234 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| upper arm skin | UBERON:0004263 | 97.62 | gold quality |
| skin of abdomen | UBERON:0001416 | 95.94 | gold quality |
| skin of leg | UBERON:0001511 | 95.49 | gold quality |
| zone of skin | UBERON:0000014 | 94.92 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 91.97 | gold quality |
| amniotic fluid | UBERON:0000173 | 91.35 | gold quality |
| gingival epithelium | UBERON:0001949 | 90.37 | gold quality |
| gingiva | UBERON:0001828 | 89.51 | gold quality |
| superficial temporal artery | UBERON:0001614 | 88.23 | silver quality |
| mucosa of paranasal sinus | UBERON:0005030 | 88.12 | gold quality |
| upper leg skin | UBERON:0004262 | 86.27 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 86.25 | silver quality |
| esophagus mucosa | UBERON:0002469 | 85.80 | gold quality |
| mammalian vulva | UBERON:0000997 | 84.86 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 84.40 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 84.27 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 82.40 | gold quality |
| vastus lateralis | UBERON:0001379 | 82.32 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 81.32 | gold quality |
| oral cavity | UBERON:0000167 | 81.28 | gold quality |
| nipple | UBERON:0002030 | 81.13 | gold quality |
| vena cava | UBERON:0004087 | 80.88 | silver quality |
| quadriceps femoris | UBERON:0001377 | 80.85 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 80.72 | gold quality |
| cardia of stomach | UBERON:0001162 | 80.33 | gold quality |
| body of tongue | UBERON:0011876 | 80.22 | gold quality |
| penis | UBERON:0000989 | 80.08 | gold quality |
| mouth mucosa | UBERON:0003729 | 79.78 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 79.00 | silver quality |
| subthalamic nucleus | UBERON:0001906 | 78.97 | silver quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-8142 | yes | 132.97 |
| E-ANND-3 | yes | 3.97 |
| E-MTAB-10596 | no | 143.84 |
Regulation
Is transcription factor: no
Literature-anchored findings (GeneRIF, showing 4)
- Rat KLC3 interacts with KHC and microtubules in vitro. Expressed in spleen, intestine, brain, ovary, testis. Testis expression restricted to post-meiotic spermatids. (PMID:11319135)
- Rat KLC3 associates with the outer dense fibers of maturing sperm tails. (PMID:12594206)
- Rat KHC3 associates with mitochondria in sperm tails (PMID:15464570)
- Microtubule-bound kinesin-1 and kinesin-3 motor domains were visualized at multiple steps in their ATPase cycles–including their nucleotide-free states–at approximately 7 A resolution using cryo-electron microscopy. (PMID:25209998)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | klc3 | ENSDARG00000055965 |
| danio_rerio | klc4 | ENSDARG00000086985 |
| mus_musculus | Klc3 | ENSMUSG00000040714 |
| rattus_norvegicus | Klc3 | ENSRNOG00000018101 |
Paralogs (5): APPBP2 (ENSG00000062725), NPHP3 (ENSG00000113971), KLC1 (ENSG00000126214), KLC4 (ENSG00000137171), KLC2 (ENSG00000174996)
Protein
Protein identifiers
Kinesin light chain 3 — Q6P597 (reviewed: Q6P597)
Alternative names: KLC2-like, kinesin light chain 2
All UniProt accessions (4): Q6P597, K7EL76, K7ELP9, K7ENJ3
UniProt curated annotations — full annotation on UniProt →
Function. Kinesin is a microtubule-associated force-producing protein that may play a role in organelle transport. Plays a role during spermiogenesis in the development of the sperm tail midpiece and in the normal function of spermatozoa. May play a role in the formation of the mitochondrial sheath formation in the developing spermatid midpiece.
Subunit / interactions. Oligomer composed of two heavy chains and two light chains. Associates with microtubulin in an ATP-dependent manner. Interacts with KIF5C. Interacts with ODF1. Interacts with LRGUK. Interacts with VDAC2.
Subcellular location. Cytoplasm. Cytoskeleton. Mitochondrion.
Domain organisation. The heptad repeat (HR) motif is sufficient for interaction with kinesin heavy (KHL) chains and ODF1. The TPR region is involved in mitochondrial binding.
Similarity. Belongs to the kinesin light chain family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q6P597-1 | 1 | yes |
| Q6P597-2 | 2 | |
| Q6P597-3 | 3 |
RefSeq proteins (1): NP_803136* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002151 | Kinesin_light | Family |
| IPR011990 | TPR-like_helical_dom_sf | Homologous_superfamily |
| IPR019734 | TPR_rpt | Repeat |
Pfam: PF13374, PF13424
UniProt features (19 total): repeat 5, modified residue 4, region of interest 3, compositionally biased region 2, splice variant 2, chain 1, sequence conflict 1, coiled-coil region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6P597-F1 | 76.05 | 0.57 |
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 (4): 173, 466, 498, 502
Function
Pathways and Gene Ontology
Reactome pathways
16 pathways
| ID | Pathway |
|---|---|
| R-HSA-2132295 | MHC class II antigen presentation |
| R-HSA-5625970 | RHO GTPases activate KTN1 |
| R-HSA-6811434 | COPI-dependent Golgi-to-ER retrograde traffic |
| R-HSA-983189 | Kinesins |
| R-HSA-109582 | Hemostasis |
| R-HSA-1280218 | Adaptive Immune System |
| R-HSA-162582 | Signal Transduction |
| R-HSA-168256 | Immune System |
| R-HSA-194315 | Signaling by Rho GTPases |
| R-HSA-195258 | RHO GTPase Effectors |
| R-HSA-199991 | Membrane Trafficking |
| R-HSA-5653656 | Vesicle-mediated transport |
| R-HSA-6811442 | Intra-Golgi and retrograde Golgi-to-ER traffic |
| R-HSA-8856688 | Golgi-to-ER retrograde transport |
| R-HSA-9716542 | Signaling by Rho GTPases, Miro GTPases and RHOBTB3 |
| R-HSA-983231 | Factors involved in megakaryocyte development and platelet production |
MSigDB gene sets: 127 (showing top):
GOBP_AXO_DENDRITIC_TRANSPORT, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, GOCC_KINESIN_COMPLEX, ROVERSI_GLIOMA_COPY_NUMBER_UP, GOBP_MALE_GAMETE_GENERATION, REACTOME_MEMBRANE_TRAFFICKING, RICKMAN_TUMOR_DIFFERENTIATED_WELL_VS_POORLY_DN, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM1, GOBP_CILIUM_ORGANIZATION, GOBP_CILIUM_MOVEMENT, GOBP_CILIUM_OR_FLAGELLUM_DEPENDENT_CELL_MOTILITY, GOBP_ORGANELLE_ASSEMBLY, GOBP_CELLULAR_PROCESS_INVOLVED_IN_REPRODUCTION_IN_MULTICELLULAR_ORGANISM, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION, GOCC_NEURON_PROJECTION
GO Biological Process (6): microtubule-based movement (GO:0007018), spermatogenesis (GO:0007283), spermatid development (GO:0007286), axo-dendritic transport (GO:0008088), sperm mitochondrial sheath assembly (GO:0120317), cell differentiation (GO:0030154)
GO Molecular Function (3): microtubule binding (GO:0008017), kinesin binding (GO:0019894), protein binding (GO:0005515)
GO Cellular Component (8): cytoplasm (GO:0005737), mitochondrion (GO:0005739), kinesin complex (GO:0005871), microtubule (GO:0005874), motile cilium (GO:0031514), ciliary rootlet (GO:0035253), neuron projection (GO:0043005), cytoskeleton (GO:0005856)
Reactome top-level categories
Rollup of top-12 pathways:
| Category | Pathways |
|---|---|
| Adaptive Immune System | 1 |
| RHO GTPase Effectors | 1 |
| Golgi-to-ER retrograde transport | 1 |
| Factors involved in megakaryocyte development and platelet production | 1 |
| Immune System | 1 |
| Signaling by Rho GTPases, Miro GTPases and RHOBTB3 | 1 |
| Signaling by Rho GTPases | 1 |
| Vesicle-mediated transport | 1 |
| Membrane Trafficking | 1 |
| Intra-Golgi and retrograde Golgi-to-ER traffic | 1 |
| Signal Transduction | 1 |
| Hemostasis | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| cilium | 2 |
| microtubule-based process | 1 |
| developmental process involved in reproduction | 1 |
| male gamete generation | 1 |
| germ cell development | 1 |
| spermatid differentiation | 1 |
| transport along microtubule | 1 |
| neuron projection | 1 |
| cellular component assembly | 1 |
| sperm flagellum assembly | 1 |
| cellular developmental process | 1 |
| tubulin binding | 1 |
| cytoskeletal protein binding | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| microtubule associated complex | 1 |
| microtubule cytoskeleton | 1 |
| polymeric cytoskeletal fiber | 1 |
| cytoskeleton | 1 |
| plasma membrane bounded cell projection | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
2371 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| KLC3 | KIF5B | P33176 | 976 |
| KLC3 | KIF5A | Q12840 | 969 |
| KLC3 | MAPK8IP3 | Q9UPT6 | 935 |
| KLC3 | KIF5C | O60282 | 934 |
| KLC3 | HAP1 | P54257 | 900 |
| KLC3 | APP | P05067 | 890 |
| KLC3 | MAPK8IP1 | Q9UQF2 | 880 |
| KLC3 | MAPK8IP2 | Q13387 | 858 |
| KLC3 | CLSTN1 | O94985 | 798 |
| KLC3 | PLEKHM2 | Q8IWE5 | 741 |
| KLC3 | KIF1A | Q12756 | 667 |
| KLC3 | ARL5B | Q96KC2 | 665 |
| KLC3 | HTT | P42858 | 640 |
| KLC3 | DPYSL2 | Q16555 | 617 |
| KLC3 | SMAD4 | Q13485 | 615 |
IntAct
182 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| YWHAH | TSC2 | psi-mi:“MI:0914”(association) | 0.850 |
| YWHAH | ABLIM1 | psi-mi:“MI:0914”(association) | 0.800 |
| YWHAZ | KLC3 | psi-mi:“MI:0915”(physical association) | 0.740 |
| KIF5B | KLC1 | psi-mi:“MI:0914”(association) | 0.730 |
| KLC3 | YWHAG | psi-mi:“MI:0915”(physical association) | 0.720 |
| CCNH | KLC3 | psi-mi:“MI:0915”(physical association) | 0.670 |
| BICDL2 | KLC3 | psi-mi:“MI:0915”(physical association) | 0.670 |
| TSNAX | KLC3 | psi-mi:“MI:0915”(physical association) | 0.670 |
| KLC3 | TSNAX | psi-mi:“MI:0915”(physical association) | 0.670 |
| KLC3 | CCNH | psi-mi:“MI:0915”(physical association) | 0.670 |
| KLC3 | BICDL2 | psi-mi:“MI:0915”(physical association) | 0.670 |
| KLC3 | YWHAE | psi-mi:“MI:0915”(physical association) | 0.670 |
| YWHAH | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.610 |
| QARS1 | KLC3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KLC3 | QARS1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DTX2 | KLC3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KLC3 | SNAP47 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CENPP | KLC3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KLC3 | KRT13 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NECAB2 | KLC3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KLC3 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| KLC3 | NDC80 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (145): KLC3 (Two-hybrid), KLC3 (Two-hybrid), KLC3 (Two-hybrid), KLC3 (Two-hybrid), KLC3 (Two-hybrid), KLC3 (Two-hybrid), KLC3 (Two-hybrid), KLC3 (Two-hybrid), KLC3 (Two-hybrid), KLC3 (Two-hybrid), KLC3 (Two-hybrid), KLC3 (Two-hybrid), KLC3 (Two-hybrid), KLC3 (Two-hybrid), KLC3 (Two-hybrid)
ESM2 similar proteins: A2VDW6, A4D2P6, A8VU90, B0BNK9, E9PY61, F1LQY6, O94810, O95382, Q05AA6, Q0QWG9, Q13474, Q2TBQ9, Q3KR56, Q3UFQ8, Q3UR97, Q3V3V9, Q5FVC2, Q5R8E2, Q5XHY1, Q60875, Q61085, Q6F5E8, Q6P597, Q6P5Z2, Q6PRD1, Q6V7V2, Q80XL1, Q80ZJ8, Q865S3, Q86UD0, Q8C6B2, Q8K031, Q8K045, Q8N4Y2, Q8ND23, Q91W40, Q91ZP9, Q92502, Q92974, Q969H4
Diamond homologs: O88447, O88448, P37285, P46822, P46824, P46825, Q05090, Q07866, Q2HJJ0, Q2TBQ9, Q5PQM2, Q5R581, Q5R8E2, Q68G30, Q6P597, Q91W40, Q9DBS5, Q9H0B6, Q9NSK0
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 94 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 |
|---|---|---|---|
| Activation of BAD and translocation to mitochondria | 7 | 86.0× | 1e-10 |
| Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex | 7 | 75.8× | 2e-10 |
| SARS-CoV-1 targets host intracellular signalling and regulatory pathways | 7 | 75.8× | 2e-10 |
| Activation of BH3-only proteins | 7 | 56.1× | 2e-09 |
| RHO GTPases activate PKNs | 7 | 35.8× | 4e-08 |
| Intrinsic Pathway for Apoptosis | 7 | 33.1× | 7e-08 |
| FOXO-mediated transcription | 5 | 27.1× | 2e-05 |
| SARS-CoV-1-host interactions | 7 | 19.8× | 2e-06 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| protein targeting | 8 | 36.6× | 2e-08 |
| intracellular protein localization | 10 | 13.1× | 1e-06 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
113 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 101 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1672 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:45340844:CAG:C | donor_loss | 1.0000 |
| 19:45340845:AGGT:A | donor_loss | 1.0000 |
| 19:45340846:GG:G | donor_loss | 1.0000 |
| 19:45340847:G:GC | donor_loss | 1.0000 |
| 19:45340848:T:G | donor_loss | 1.0000 |
| 19:45346750:G:GG | donor_gain | 1.0000 |
| 19:45348158:CCGG:C | donor_loss | 1.0000 |
| 19:45348160:GGT:G | donor_loss | 1.0000 |
| 19:45348161:G:GG | donor_gain | 1.0000 |
| 19:45348162:T:A | donor_loss | 1.0000 |
| 19:45348629:T:A | acceptor_gain | 1.0000 |
| 19:45348630:G:A | acceptor_gain | 1.0000 |
| 19:45348634:C:CA | acceptor_gain | 1.0000 |
| 19:45348642:A:AG | acceptor_gain | 1.0000 |
| 19:45348642:ACAG:A | acceptor_gain | 1.0000 |
| 19:45348642:ACAGG:A | acceptor_gain | 1.0000 |
| 19:45348643:C:G | acceptor_gain | 1.0000 |
| 19:45348643:CAGG:C | acceptor_loss | 1.0000 |
| 19:45348644:A:AC | acceptor_loss | 1.0000 |
| 19:45348644:A:AG | acceptor_gain | 1.0000 |
| 19:45348644:AG:A | acceptor_gain | 1.0000 |
| 19:45348644:AGG:A | acceptor_gain | 1.0000 |
| 19:45348645:G:A | acceptor_loss | 1.0000 |
| 19:45348645:G:GT | acceptor_gain | 1.0000 |
| 19:45348645:GG:G | acceptor_gain | 1.0000 |
| 19:45348645:GGG:G | acceptor_gain | 1.0000 |
| 19:45348645:GGGA:G | acceptor_gain | 1.0000 |
| 19:45348645:GGGAC:G | acceptor_gain | 1.0000 |
| 19:45348731:GCG:G | donor_gain | 1.0000 |
| 19:45348731:GCGGT:G | donor_loss | 1.0000 |
AlphaMissense
3204 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:45348019:T:C | L213P | 1.000 |
| 19:45348136:T:C | L252P | 1.000 |
| 19:45348140:C:A | N253K | 1.000 |
| 19:45348140:C:G | N253K | 1.000 |
| 19:45348151:T:C | L257P | 1.000 |
| 19:45348833:T:C | L294P | 1.000 |
| 19:45348836:A:T | N295I | 1.000 |
| 19:45348837:C:A | N295K | 1.000 |
| 19:45348837:C:G | N295K | 1.000 |
| 19:45348840:C:A | N296K | 1.000 |
| 19:45348840:C:G | N296K | 1.000 |
| 19:45349466:T:C | L336P | 1.000 |
| 19:45349473:C:A | N338K | 1.000 |
| 19:45349473:C:G | N338K | 1.000 |
| 19:45349475:T:C | L339P | 1.000 |
| 19:45348010:T:C | L210P | 0.999 |
| 19:45348012:C:G | H211D | 0.999 |
| 19:45348030:T:G | Y217D | 0.999 |
| 19:45348058:C:A | A226E | 0.999 |
| 19:45348069:T:C | C230R | 0.999 |
| 19:45348071:C:G | C230W | 0.999 |
| 19:45348091:T:C | L237P | 0.999 |
| 19:45348127:C:A | A249D | 0.999 |
| 19:45348145:T:C | L255P | 0.999 |
| 19:45348148:C:A | A256E | 0.999 |
| 19:45348160:G:C | R260P | 0.999 |
| 19:45348651:A:C | Q262P | 0.999 |
| 19:45348681:T:C | L272P | 0.999 |
| 19:45348693:T:C | L276P | 0.999 |
| 19:45348824:C:A | A291D | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000022619 (19:45350114 G>A,C), RS1000142199 (19:45341862 C>T), RS1000249488 (19:45348792 C>G,T), RS1000774492 (19:45339468 G>A,C), RS1000787151 (19:45345536 G>A), RS1001038165 (19:45341355 GGT>G,GGTGT), RS1001421363 (19:45343624 C>A,T), RS1001595739 (19:45339326 T>C,G), RS1001608670 (19:45339051 C>T), RS1001691429 (19:45344065 T>C), RS1002195073 (19:45340535 GT>G), RS1002214974 (19:45340522 T>C), RS1002609986 (19:45340717 G>A), RS1002654278 (19:45340212 G>A), RS1003139200 (19:45342535 G>A)
Disease associations
OMIM: gene MIM:601334 | disease phenotypes: MIM:278730, MIM:601675, MIM:610756
GenCC curated gene-disease
Mondo (3): xeroderma pigmentosum group D (MONDO:0010212), trichothiodystrophy 1, photosensitive (MONDO:0011125), cerebrooculofacioskeletal syndrome 2 (MONDO:0012553)
Orphanet (3): Trichothiodystrophy (Orphanet:33364), OBSOLETE: Xeroderma pigmentosum complementation group D (Orphanet:276258), PIBIDS syndrome (Orphanet:670)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
5 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST005950_15 | Body mass index x sex x age interaction (4df test) | 2.000000e-10 |
| GCST005951_56 | Body mass index | 1.000000e-06 |
| GCST005952_8 | Body mass index (age>50) | 9.000000e-12 |
| GCST005954_4 | Body mass index x age interaction | 2.000000e-07 |
| GCST007827_3 | Alzheimer’s disease or HDL levels (pleiotropy) | 1.000000e-97 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004340 | body mass index |
| EFO:0008007 | age at assessment |
| EFO:0008343 | sex interaction measurement |
| EFO:0004612 | high density lipoprotein cholesterol measurement |
MeSH disease descriptors (2)
| Descriptor | Name | Tree numbers |
|---|---|---|
| C565185 | Cerebrooculofacioskeletal Syndrome 2 (supp.) | |
| C562591 | Xeroderma Pigmentosum, Complementation Group D (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB clinical annotations
2 annotations.
| Variant | Type | Level | Drugs | Phenotypes |
|---|---|---|---|---|
| rs13181 | Efficacy | 3 | cisplatin;gemcitabine | Mesothelioma |
| rs13181 | Efficacy | 3 | cisplatin;oxaliplatin;platinum;Platinum compounds | Colorectal Neoplasms;Neoplasm of esophagus;Osteosarcoma;Ovarian Neoplasms;Pancreatic Neoplasms |
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs13181 | ERCC2, KLC3 | 3 | 4.75 | 7 | cisplatin;oxaliplatin;platinum;Platinum compounds;cisplatin;gemcitabine;fluorouracil;leucovorin;oxaliplatin;bleomycin;cisplatin;etoposide;cisplatin;doxorubicin;methotrexate;Platinum compounds;docetaxel |
CTD chemical–gene interactions
28 total (human), top 28 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, increases expression, increases methylation | 3 |
| sodium arsenite | decreases expression, increases expression | 2 |
| FR900359 | increases phosphorylation | 1 |
| propionaldehyde | increases expression | 1 |
| pyrogallol 1,3-dimethyl ether | affects localization, decreases expression, affects cotreatment | 1 |
| beta-lapachone | increases expression | 1 |
| butyraldehyde | increases expression | 1 |
| pentanal | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| erucylphospho-N,N,N-trimethylpropylammonium | increases expression | 1 |
| nutlin 3 | affects cotreatment, increases expression | 1 |
| Arsenic Trioxide | increases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Aldehydes | increases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Camptothecin | increases expression | 1 |
| Dactinomycin | affects cotreatment, increases expression | 1 |
| Furaldehyde | affects cotreatment, affects localization, decreases expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Smoke | decreases expression | 1 |
| Sodium Chloride | affects cotreatment, affects localization, decreases expression | 1 |
| Tetrachlorodibenzodioxin | decreases expression | 1 |
| Thiram | increases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Okadaic Acid | increases expression | 1 |
| Copper Sulfate | increases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): cerebrooculofacioskeletal syndrome 2, trichothiodystrophy 1, photosensitive, xeroderma pigmentosum group D