KLHDC3
gene geneOn this page
Also known as PEAShPeasdJ20C7.3
Summary
KLHDC3 (kelch domain containing 3, HGNC:20704) is a protein-coding gene on chromosome 6p21.1, encoding Kelch domain-containing protein 3 (Q9BQ90). Substrate-recognition component of a Cul2-RING (CRL2) E3 ubiquitin-protein ligase complex of the DesCEND (destruction via C-end degrons) pathway, which recognizes a C-degron located at the extreme C terminus of target proteins, leading to their ubiquitination and degradation.
The protein encoded by this gene contains six repeated kelch motifs that are structurally similar to recombination activating gene 2, a protein involved in the activation of the V(D)J recombination. In mouse, this gene is found to be expressed specifically in testis. Its expression in pachytene spermatocytes is localized to cytoplasma and meiotic chromatin, suggesting that this gene may be involved in meiotic recombination.
Source: NCBI Gene 116138 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 43 total
- MANE Select transcript:
NM_057161
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:20704 |
| Approved symbol | KLHDC3 |
| Name | kelch domain containing 3 |
| Location | 6p21.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | PEAS, hPeas, dJ20C7.3 |
| Ensembl gene | ENSG00000124702 |
| Ensembl biotype | protein_coding |
| OMIM | 611248 |
| Entrez | 116138 |
Gene structure
Transcript identifiers
Ensembl transcripts: 25 — 25 protein_coding
ENST00000244670, ENST00000326974, ENST00000892793, ENST00000892794, ENST00000892795, ENST00000892796, ENST00000892797, ENST00000892798, ENST00000892799, ENST00000892800, ENST00000892801, ENST00000892802, ENST00000892803, ENST00000892804, ENST00000892805, ENST00000931056, ENST00000931057, ENST00000931058, ENST00000931059, ENST00000931060, ENST00000931061, ENST00000931062, ENST00000931063, ENST00000931064, ENST00000965771
RefSeq mRNA: 1 — MANE Select: NM_057161
NM_057161
CCDS: CCDS4880
Canonical transcript exons
ENST00000326974 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000751521 | 43018343 | 43018556 |
| ENSE00000751522 | 43018633 | 43018719 |
| ENSE00000751523 | 43018863 | 43018971 |
| ENSE00000751524 | 43019092 | 43019165 |
| ENSE00000751525 | 43019288 | 43019366 |
| ENSE00000850038 | 43017853 | 43017968 |
| ENSE00000850039 | 43018145 | 43018216 |
| ENSE00001549974 | 43014249 | 43014348 |
| ENSE00003555190 | 43017519 | 43017695 |
| ENSE00003650346 | 43017134 | 43017346 |
| ENSE00003847291 | 43020667 | 43021294 |
Expression profiles
Bgee: expression breadth ubiquitous, 294 present calls, max score 98.96.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 71.7364 / max 433.3324, expressed in 1827 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 67847 | 71.5433 | 1827 |
| 67848 | 0.1024 | 23 |
| 67850 | 0.0778 | 25 |
| 67849 | 0.0129 | 8 |
Top tissues by expression
302 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right testis | UBERON:0004534 | 98.96 | gold quality |
| left testis | UBERON:0004533 | 98.94 | gold quality |
| right frontal lobe | UBERON:0002810 | 98.82 | gold quality |
| prefrontal cortex | UBERON:0000451 | 98.51 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 98.13 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 98.13 | gold quality |
| cerebellar cortex | UBERON:0002129 | 98.11 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 98.09 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 97.95 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 97.86 | gold quality |
| triceps brachii | UBERON:0001509 | 97.83 | gold quality |
| nucleus accumbens | UBERON:0001882 | 97.80 | gold quality |
| amygdala | UBERON:0001876 | 97.66 | gold quality |
| cingulate cortex | UBERON:0003027 | 97.58 | gold quality |
| cerebellum | UBERON:0002037 | 97.50 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 97.48 | gold quality |
| caudate nucleus | UBERON:0001873 | 97.45 | gold quality |
| putamen | UBERON:0001874 | 97.43 | gold quality |
| frontal cortex | UBERON:0001870 | 97.18 | gold quality |
| ganglionic eminence | UBERON:0004023 | 97.18 | gold quality |
| frontal lobe | UBERON:0016525 | 97.18 | gold quality |
| cortical plate | UBERON:0005343 | 97.15 | gold quality |
| apex of heart | UBERON:0002098 | 97.10 | gold quality |
| testis | UBERON:0000473 | 97.02 | gold quality |
| neocortex | UBERON:0001950 | 96.97 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 96.94 | gold quality |
| ventricular zone | UBERON:0003053 | 96.91 | gold quality |
| muscle of leg | UBERON:0001383 | 96.82 | gold quality |
| frontal pole | UBERON:0002795 | 96.82 | gold quality |
| gastrocnemius | UBERON:0001388 | 96.79 | 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
miRNA regulators (miRDB)
54 targeting KLHDC3, 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-29A-3P | 100.00 | 73.11 | 1835 |
| HSA-MIR-29B-3P | 100.00 | 73.18 | 1833 |
| HSA-MIR-29C-3P | 100.00 | 73.15 | 1833 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-12118 | 100.00 | 65.88 | 1270 |
| HSA-MIR-6851-5P | 100.00 | 65.63 | 1294 |
| HSA-MIR-3689D | 100.00 | 66.14 | 1181 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| 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-3173-3P | 99.98 | 66.49 | 1217 |
| HSA-MIR-6891-5P | 99.98 | 66.53 | 1372 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-4487 | 99.96 | 64.58 | 1252 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-629-3P | 99.85 | 67.99 | 1875 |
| HSA-MIR-3663-3P | 99.84 | 70.39 | 798 |
| HSA-MIR-6756-5P | 99.82 | 67.97 | 2466 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-4713-5P | 99.78 | 67.80 | 1794 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
| HSA-MIR-6883-5P | 99.69 | 68.05 | 3785 |
| HSA-MIR-6766-5P | 99.68 | 67.70 | 2325 |
| HSA-MIR-3202 | 99.66 | 67.70 | 2737 |
| HSA-MIR-4690-5P | 99.65 | 66.24 | 813 |
Literature-anchored findings (GeneRIF, showing 2)
- cloned human and mouse Peas cDNAs (hPEAS/mPeas) and analyzed their tissue and stage-specific expressions; may be involved in meiotic recombination process (PMID:12606021)
- CRL2(KLHDC3) mediates p14ARF N-terminal ubiquitylation degradation to promote non-small cell lung carcinoma progression. (PMID:35468939)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | klhdc3 | ENSDARG00000102772 |
| mus_musculus | Klhdc3 | ENSMUSG00000063576 |
| rattus_norvegicus | Klhdc3 | ENSRNOG00000017495 |
Paralogs (10): FBXO42 (ENSG00000037637), LZTR1 (ENSG00000099949), KLHDC4 (ENSG00000104731), HCFC2 (ENSG00000111727), KLHDC10 (ENSG00000128607), RABEPK (ENSG00000136933), KLHDC9 (ENSG00000162755), KLHDC2 (ENSG00000165516), HCFC1 (ENSG00000172534), KLHDC1 (ENSG00000197776)
Protein
Protein identifiers
Kelch domain-containing protein 3 — Q9BQ90 (reviewed: Q9BQ90)
Alternative names: Testis intracellular mediator protein
All UniProt accessions (2): Q9BQ90, F8W6A4
UniProt curated annotations — full annotation on UniProt →
Function. Substrate-recognition component of a Cul2-RING (CRL2) E3 ubiquitin-protein ligase complex of the DesCEND (destruction via C-end degrons) pathway, which recognizes a C-degron located at the extreme C terminus of target proteins, leading to their ubiquitination and degradation. The C-degron recognized by the DesCEND pathway is usually a motif of less than ten residues and can be present in full-length proteins, truncated proteins or proteolytically cleaved forms. The CRL2(KLHDC3) complex specifically recognizes proteins with a glycine (Gly) at the C-terminus, leading to their ubiquitination and degradation: recognizes the C-terminal -Arg-(Xaa)n-Arg-Gly, -Arg-(Xaa)n-Lys-Gly, and -Arg-(Xaa)n-Gln-Gly degrons. The CRL2(KLHDC3) complex mediates ubiquitination and degradation of truncated SELENOV and SEPHS2 selenoproteins produced by failed UGA/Sec decoding, which end with a glycine. May be involved in meiotic recombination process.
Subunit / interactions. Component of a CRL2(KLHDC3) complex, also named ECS(KLHDC3) complex, composed of CUL2, Elongin BC (ELOB and ELOC), RBX1 and substrate-specific adapter KLHDC3. May form oligomers as a KLHDC3-ELOB-ELOC complex; this interaction is likely autoinhibitory for the E3 ligase complex.
Subcellular location. Cytoplasm.
Pathway. Protein modification; protein ubiquitination.
RefSeq proteins (1): NP_476502* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR006652 | Kelch_1 | Repeat |
| IPR015915 | Kelch-typ_b-propeller | Homologous_superfamily |
| IPR052637 | KLHDC3-like | Family |
Pfam: PF01344, PF24681
UniProt features (46 total): strand 31, turn 7, repeat 5, helix 2, chain 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9D1Z | X-RAY DIFFRACTION | 1.88 |
| 9D1I | X-RAY DIFFRACTION | 2 |
| 9D1Y | X-RAY DIFFRACTION | 2.6 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BQ90-F1 | 94.31 | 0.88 |
Function
Pathways and Gene Ontology
Reactome pathways
5 pathways
| ID | Pathway |
|---|---|
| R-HSA-381038 | XBP1(S) activates chaperone genes |
| R-HSA-2262752 | Cellular responses to stress |
| R-HSA-381070 | IRE1alpha activates chaperones |
| R-HSA-381119 | Unfolded Protein Response (UPR) |
| R-HSA-8953897 | Cellular responses to stimuli |
MSigDB gene sets: 194 (showing top):
TGGTGCT_MIR29A_MIR29B_MIR29C, MODULE_52, REACTOME_UNFOLDED_PROTEIN_RESPONSE_UPR, TGCGCANK_UNKNOWN, ATACCTC_MIR202, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, DACOSTA_UV_RESPONSE_VIA_ERCC3_UP, GGGTGGRR_PAX4_03, GGAMTNNNNNTCCY_UNKNOWN, MODULE_66, MODULE_120, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, GOBP_ORGANELLE_FISSION, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, HIF1_Q3
GO Biological Process (5): reciprocal meiotic recombination (GO:0007131), protein ubiquitination (GO:0016567), proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161), ubiquitin-dependent protein catabolic process via the C-end degron rule pathway (GO:0140627), meiotic cell cycle (GO:0051321)
GO Molecular Function (3): chromatin binding (GO:0003682), ubiquitin-like ligase-substrate adaptor activity (GO:1990756), protein binding (GO:0005515)
GO Cellular Component (5): chromatin (GO:0000785), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytosol (GO:0005829), Cul2-RING ubiquitin ligase complex (GO:0031462)
Reactome top-level categories
Rollup of top-4 pathways:
| Category | Pathways |
|---|---|
| IRE1alpha activates chaperones | 1 |
| Cellular responses to stimuli | 1 |
| Unfolded Protein Response (UPR) | 1 |
| Cellular responses to stress | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| binding | 2 |
| meiosis I | 1 |
| reciprocal homologous recombination | 1 |
| meiotic cell cycle process | 1 |
| protein modification by small protein conjugation | 1 |
| ubiquitin-dependent protein catabolic process | 1 |
| proteasomal protein catabolic process | 1 |
| proteasome-mediated ubiquitin-dependent protein catabolic process | 1 |
| cell cycle | 1 |
| sexual reproduction | 1 |
| reproductive process | 1 |
| meiotic nuclear division | 1 |
| enzyme-substrate adaptor activity | 1 |
| chromosome | 1 |
| nuclear lumen | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| cullin-RING ubiquitin ligase complex | 1 |
Protein interactions and networks
STRING
796 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| KLHDC3 | MEA1 | Q16626 | 942 |
| KLHDC3 | PPP2R5D | Q14738 | 937 |
| KLHDC3 | SELENOS | Q9BQE4 | 557 |
| KLHDC3 | APPBP2 | Q92624 | 516 |
| KLHDC3 | SELENOK | Q9Y6D0 | 510 |
| KLHDC3 | SEPHS2 | Q99611 | 499 |
| KLHDC3 | SPATA4 | Q8NEY3 | 471 |
| KLHDC3 | SELENOV | P59797 | 470 |
| KLHDC3 | PLAAT5 | Q96KN8 | 467 |
| KLHDC3 | CUL3 | Q13618 | 463 |
| KLHDC3 | RAG2 | P55895 | 460 |
| KLHDC3 | PRAMEF6 | Q5VXH4 | 445 |
| KLHDC3 | FEM1C | Q96JP0 | 441 |
| KLHDC3 | SFI1 | A8K8P3 | 439 |
| KLHDC3 | PHKG2 | P11800 | 431 |
IntAct
69 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CUL2 | VHL | psi-mi:“MI:0914”(association) | 0.940 |
| EAF1 | ELL2 | psi-mi:“MI:0914”(association) | 0.840 |
| KLHDC3 | CUL2 | psi-mi:“MI:0914”(association) | 0.770 |
| KLHDC3 | CUL2 | psi-mi:“MI:0915”(physical association) | 0.770 |
| CUL2 | COPS2 | psi-mi:“MI:0914”(association) | 0.640 |
| CUL5 | SOCS7 | psi-mi:“MI:0914”(association) | 0.640 |
| CHCHD4 | SSNA1 | psi-mi:“MI:0914”(association) | 0.640 |
| GLMN | FKBP5 | psi-mi:“MI:0914”(association) | 0.640 |
| USP10 | ANKRD28 | psi-mi:“MI:0914”(association) | 0.610 |
| WDR55 | PES1 | psi-mi:“MI:0914”(association) | 0.530 |
| GLMN | CUL1 | psi-mi:“MI:0914”(association) | 0.530 |
| SLC31A1 | C2orf72 | psi-mi:“MI:0914”(association) | 0.530 |
| VSIG4 | TCAF2 | psi-mi:“MI:0914”(association) | 0.530 |
| KLHDC3 | DPYSL4 | psi-mi:“MI:0914”(association) | 0.530 |
| IMPDH1 | BCAT2 | psi-mi:“MI:0914”(association) | 0.530 |
| SUV39H1 | MAGEC1 | psi-mi:“MI:0914”(association) | 0.530 |
| MISP | OBSL1 | psi-mi:“MI:0914”(association) | 0.530 |
| THOC3 | CLUH | psi-mi:“MI:0914”(association) | 0.530 |
| G3BP2 | NUP214 | psi-mi:“MI:0914”(association) | 0.530 |
| CHCHD4 | ENSA | psi-mi:“MI:0914”(association) | 0.530 |
| KLHDC3 | CLUH | psi-mi:“MI:0914”(association) | 0.530 |
| POP7 | RPP40 | psi-mi:“MI:0914”(association) | 0.530 |
| ZSCAN9 | SCAND1 | psi-mi:“MI:0914”(association) | 0.530 |
| CSNK1E | ZSWIM8 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (167): KLHDC3 (Affinity Capture-RNA), KLHDC3 (Affinity Capture-RNA), KLHDC3 (Affinity Capture-RNA), KLHDC3 (Affinity Capture-MS), KLHDC3 (Affinity Capture-MS), COPS2 (Affinity Capture-MS), RPP25L (Affinity Capture-MS), CUL2 (Affinity Capture-MS), COPS6 (Affinity Capture-MS), BRAP (Affinity Capture-MS), DPYSL5 (Affinity Capture-MS), NEDD8 (Affinity Capture-MS), USP10 (Affinity Capture-MS), NUDCD3 (Affinity Capture-MS), TSPYL4 (Affinity Capture-MS)
ESM2 similar proteins: A0A2R8Q1W5, A2AAX3, A4IF63, A6QQY2, D3ZA50, D3ZQG6, F7H9X2, G3X9X1, O95199, P28575, P57790, Q14145, Q28DE7, Q2T9Z7, Q2WGJ6, Q56A24, Q58CV6, Q59H18, Q5BK60, Q5GIG6, Q5R774, Q5RCZ7, Q5RDY3, Q5U3Y0, Q5U580, Q5ZJU2, Q5ZLD3, Q684M4, Q6AYI2, Q6P798, Q6TFL4, Q6ZPT1, Q7TQP6, Q80TF4, Q80YG3, Q8BRG6, Q8BSF5, Q8IY47, Q8N7A1, Q8VEM9
Diamond homologs: A8JAM0, D3ZN95, G5EC23, P38853, P51610, P51611, Q10AZ7, Q4V8F4, Q53EP0, Q5RDA9, Q5RKG2, Q61191, Q6AYI2, Q6NWW9, Q6P3S6, Q7M3S9, Q8H4D4, Q8VEM9, Q93XW5, Q9BQ90, Q9D968, Q9V4C8, Q9Y5Z7, Q5EA50, Q86L99, Q94BT6, Q9C8K7, Q58CV6, Q5R4Q7, Q8N653, Q8W4K1, B8A5G9, C6A5A3, D3BT31, E3KWE1, F7A355, G1FNI6, O58523, O58796, P53177
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 88 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 |
|---|---|---|---|
| Neddylation | 9 | 7.5× | 8e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| SCF-dependent proteasomal ubiquitin-dependent protein catabolic process | 5 | 23.4× | 1e-03 |
| proteasome-mediated ubiquitin-dependent protein catabolic process | 9 | 5.9× | 4e-03 |
| protein ubiquitination | 10 | 5.2× | 4e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
43 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 29 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1184 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:43017517:A:AG | acceptor_gain | 1.0000 |
| 6:43017518:G:GG | acceptor_gain | 1.0000 |
| 6:43017518:GT:G | acceptor_gain | 1.0000 |
| 6:43017518:GTGT:G | acceptor_gain | 1.0000 |
| 6:43017518:GTGTC:G | acceptor_gain | 1.0000 |
| 6:43017691:CGTCA:C | donor_loss | 1.0000 |
| 6:43017692:GTCA:G | donor_gain | 1.0000 |
| 6:43017693:TCA:T | donor_gain | 1.0000 |
| 6:43017694:CAGT:C | donor_loss | 1.0000 |
| 6:43017695:AGT:A | donor_loss | 1.0000 |
| 6:43017696:G:GG | donor_gain | 1.0000 |
| 6:43017697:T:A | donor_loss | 1.0000 |
| 6:43017698:GAGT:G | donor_loss | 1.0000 |
| 6:43017699:AGTA:A | donor_loss | 1.0000 |
| 6:43017700:G:GG | donor_gain | 1.0000 |
| 6:43017965:GCAG:G | donor_gain | 1.0000 |
| 6:43018553:GCCT:G | donor_gain | 1.0000 |
| 6:43018557:G:GG | donor_gain | 1.0000 |
| 6:43018627:TTCCA:T | acceptor_loss | 1.0000 |
| 6:43018628:TCCA:T | acceptor_loss | 1.0000 |
| 6:43018629:CCAGT:C | acceptor_loss | 1.0000 |
| 6:43018630:CAGTT:C | acceptor_loss | 1.0000 |
| 6:43018631:A:AC | acceptor_loss | 1.0000 |
| 6:43018631:A:AG | acceptor_gain | 1.0000 |
| 6:43018631:AGTT:A | acceptor_gain | 1.0000 |
| 6:43018631:AGTTG:A | acceptor_gain | 1.0000 |
| 6:43018632:G:GG | acceptor_gain | 1.0000 |
| 6:43018632:GT:G | acceptor_gain | 1.0000 |
| 6:43018632:GTT:G | acceptor_gain | 1.0000 |
| 6:43018632:GTTG:G | acceptor_gain | 1.0000 |
AlphaMissense
2516 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:43017202:T:A | W4R | 1.000 |
| 6:43017202:T:C | W4R | 1.000 |
| 6:43017227:C:A | P12H | 1.000 |
| 6:43017233:G:C | R14T | 1.000 |
| 6:43017233:G:T | R14M | 1.000 |
| 6:43017234:G:C | R14S | 1.000 |
| 6:43017234:G:T | R14S | 1.000 |
| 6:43017238:A:G | N16D | 1.000 |
| 6:43017240:C:A | N16K | 1.000 |
| 6:43017240:C:G | N16K | 1.000 |
| 6:43017241:C:G | H17D | 1.000 |
| 6:43017242:A:G | H17R | 1.000 |
| 6:43017247:G:C | A19P | 1.000 |
| 6:43017248:C:A | A19E | 1.000 |
| 6:43017280:G:A | G30R | 1.000 |
| 6:43017280:G:C | G30R | 1.000 |
| 6:43017280:G:T | G30W | 1.000 |
| 6:43017281:G:A | G30E | 1.000 |
| 6:43017281:G:T | G30V | 1.000 |
| 6:43017283:G:C | G31R | 1.000 |
| 6:43017283:G:T | G31C | 1.000 |
| 6:43017284:G:A | G31D | 1.000 |
| 6:43017284:G:T | G31V | 1.000 |
| 6:43017530:T:A | W56R | 1.000 |
| 6:43017530:T:C | W56R | 1.000 |
| 6:43017531:G:C | W56S | 1.000 |
| 6:43017532:G:C | W56C | 1.000 |
| 6:43017532:G:T | W56C | 1.000 |
| 6:43017585:C:A | P74H | 1.000 |
| 6:43017593:C:A | R77S | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000201066 (6:43015228 C>T), RS1001039061 (6:43013797 T>A), RS1001151588 (6:43013978 A>C,G), RS1001268356 (6:43014282 C>T), RS1001475564 (6:43021236 C>T), RS1001819790 (6:43021489 T>C), RS1002256055 (6:43017173 T>C), RS1002910460 (6:43021225 C>T), RS1003230003 (6:43015408 AG>A), RS1003259398 (6:43015942 T>TG), RS1003540136 (6:43021087 C>G,T), RS1003560736 (6:43016394 T>G), RS1003611761 (6:43016047 T>A), RS1003920083 (6:43020006 T>C), RS1004138131 (6:43019755 A>T)
Disease associations
OMIM: gene MIM:611248 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
26 total (human), top 26 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, affects cotreatment, increases abundance | 2 |
| Cyclosporine | decreases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| pirinixic acid | affects binding, decreases expression, increases activity | 1 |
| bisphenol A | affects expression | 1 |
| manganese chloride | decreases expression, increases abundance, affects cotreatment | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | affects cotreatment, increases expression | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Temozolomide | increases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Arsenic | affects cotreatment, decreases expression, increases abundance | 1 |
| Benzo(a)pyrene | decreases methylation | 1 |
| Coumestrol | affects cotreatment, increases expression | 1 |
| Doxorubicin | increases expression | 1 |
| Manganese | decreases expression, increases abundance, affects cotreatment | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Plant Oils | decreases expression | 1 |
| Selenomethionine | affects expression | 1 |
| Smoke | decreases expression | 1 |
| Thiram | decreases expression | 1 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 1 |
| Cadmium Chloride | decreases expression | 1 |
| tert-Butylhydroperoxide | decreases expression | 1 |
Cellosaurus cell lines
4 cell lines: 3 cancer cell line, 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B2ZV | Abcam HEK293T KLHDC3 KO | Transformed cell line | Female |
| CVCL_E2AI | HAP1 KLHDC3 (-) 1 | Cancer cell line | Male |
| CVCL_E2AJ | HAP1 KLHDC3 (-) 2 | Cancer cell line | Male |
| CVCL_E2AK | HAP1 KLHDC3 (-) 3 | Cancer cell line | Male |
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.