KLHDC8B
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Also known as MGC35097
Summary
KLHDC8B (kelch domain containing 8B, HGNC:28557) is a protein-coding gene on chromosome 3p21.31, encoding Kelch domain-containing protein 8B (Q8IXV7). Involved in pinching off the separated nuclei at the cleavage furrow and in cytokinesis.
This gene encodes a protein which forms a distinct beta-propeller protein structure of kelch domains allowing for protein-protein interactions. Mutations in this gene have been associated with Hodgkin lymphoma.
Source: NCBI Gene 200942 — RefSeq curated summary.
At a glance
- Gene–disease (curated): classic Hodgkin lymphoma (Limited, GenCC)
- GWAS associations: 14
- Clinical variants (ClinVar): 192 total
- Phenotypes (HPO): 4
- MANE Select transcript:
NM_173546
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:28557 |
| Approved symbol | KLHDC8B |
| Name | kelch domain containing 8B |
| Location | 3p21.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC35097 |
| Ensembl gene | ENSG00000185909 |
| Ensembl biotype | protein_coding |
| OMIM | 613169 |
| Entrez | 200942 |
Gene structure
Transcript identifiers
Ensembl transcripts: 14 — 10 protein_coding, 3 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000332780, ENST00000459846, ENST00000462582, ENST00000471811, ENST00000476495, ENST00000904821, ENST00000904822, ENST00000948545, ENST00000948546, ENST00000948547, ENST00000948548, ENST00000948549, ENST00000948550, ENST00000948551
RefSeq mRNA: 1 — MANE Select: NM_173546
NM_173546
CCDS: CCDS2791
Canonical transcript exons
ENST00000332780 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001298839 | 49175062 | 49175163 |
| ENSE00001332172 | 49175605 | 49176486 |
| ENSE00001904598 | 49171598 | 49171685 |
| ENSE00002724455 | 49172636 | 49173145 |
| ENSE00003518431 | 49174239 | 49174403 |
| ENSE00003685718 | 49174742 | 49174966 |
Expression profiles
Bgee: expression breadth ubiquitous, 247 present calls, max score 98.78.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.6739 / max 280.1762, expressed in 1588 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 36616 | 11.2286 | 1541 |
| 36615 | 1.4453 | 947 |
Top tissues by expression
253 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right adrenal gland cortex | UBERON:0035827 | 98.78 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 98.77 | gold quality |
| adrenal cortex | UBERON:0001235 | 98.69 | gold quality |
| adrenal tissue | UBERON:0018303 | 98.66 | gold quality |
| right adrenal gland | UBERON:0001233 | 98.64 | gold quality |
| left adrenal gland | UBERON:0001234 | 98.63 | gold quality |
| apex of heart | UBERON:0002098 | 98.24 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 98.15 | gold quality |
| left ovary | UBERON:0002119 | 98.00 | gold quality |
| adrenal gland | UBERON:0002369 | 97.96 | gold quality |
| right ovary | UBERON:0002118 | 97.61 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 97.55 | gold quality |
| heart left ventricle | UBERON:0002084 | 97.13 | gold quality |
| cardiac ventricle | UBERON:0002082 | 97.05 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 96.64 | gold quality |
| lower esophagus | UBERON:0013473 | 96.58 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 96.58 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 96.38 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 96.03 | gold quality |
| myocardium | UBERON:0002349 | 95.71 | gold quality |
| heart | UBERON:0000948 | 95.57 | gold quality |
| ovary | UBERON:0000992 | 95.46 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 94.81 | gold quality |
| heart right ventricle | UBERON:0002080 | 94.81 | gold quality |
| right atrium auricular region | UBERON:0006631 | 94.80 | gold quality |
| cardiac atrium | UBERON:0002081 | 94.79 | gold quality |
| tibialis anterior | UBERON:0001385 | 94.78 | silver quality |
| esophagus | UBERON:0001043 | 94.76 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 94.65 | gold quality |
| mucosa of stomach | UBERON:0001199 | 94.50 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-10 | yes | 37.92 |
| E-GEOD-93593 | yes | 6.60 |
| E-ANND-3 | yes | 2.90 |
| E-MTAB-10137 | no | 426.44 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
67 targeting KLHDC8B, 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-6758-5P | 100.00 | 66.21 | 1470 |
| HSA-MIR-6856-5P | 100.00 | 65.47 | 1298 |
| HSA-MIR-432-3P | 100.00 | 67.86 | 705 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-MIR-34A-5P | 99.99 | 71.21 | 1784 |
| HSA-MIR-449A | 99.99 | 71.05 | 1776 |
| HSA-LET-7A-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7B-5P | 99.98 | 72.31 | 1790 |
| HSA-LET-7C-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7E-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7F-5P | 99.98 | 72.56 | 1784 |
| HSA-LET-7G-5P | 99.98 | 72.37 | 1784 |
| HSA-LET-7I-5P | 99.98 | 72.37 | 1788 |
| HSA-MIR-98-5P | 99.98 | 72.33 | 1787 |
| HSA-LET-7D-5P | 99.96 | 71.76 | 1632 |
| HSA-MIR-4458 | 99.96 | 71.64 | 1650 |
| HSA-MIR-3605-5P | 99.96 | 67.12 | 932 |
| HSA-MIR-6755-5P | 99.95 | 65.59 | 464 |
| HSA-MIR-22-3P | 99.93 | 68.13 | 917 |
| HSA-MIR-3682-5P | 99.93 | 67.97 | 1163 |
| HSA-MIR-497-5P | 99.92 | 71.83 | 2674 |
| HSA-MIR-15A-5P | 99.90 | 72.80 | 2787 |
| HSA-MIR-15B-5P | 99.90 | 72.78 | 2798 |
| HSA-MIR-16-5P | 99.90 | 72.80 | 2780 |
| HSA-MIR-195-5P | 99.90 | 72.81 | 2805 |
| HSA-MIR-6499-3P | 99.90 | 66.38 | 1212 |
| HSA-MIR-6838-5P | 99.89 | 71.94 | 2690 |
| HSA-MIR-424-5P | 99.89 | 71.90 | 2641 |
Literature-anchored findings (GeneRIF, showing 3)
- Depletion of KLHDC8B through RNA interference leads to an increase in binucleated cells, implicating its reduced expression in the formation of classical Hodgkin lymphoma’s signature Reed-Sternberg cell. (PMID:19706467)
- Deficiency of KLHDC8B leads to binucleated cells, implicating its involvement in Reed-Sternberg cell formation (PMID:20107318)
- kelch protein KLHDC8B guards against mitotic errors, centrosomal amplification, and chromosomal instability (PMID:22988245)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Klhdc8b | ENSMUSG00000032609 |
| rattus_norvegicus | Klhdc8b | ENSRNOG00000047867 |
Paralogs (54): KLHL13 (ENSG00000003096), KLHL20 (ENSG00000076321), KEAP1 (ENSG00000079999), KLHL42 (ENSG00000087448), KLHL22 (ENSG00000099910), KLHL4 (ENSG00000102271), KLHL2 (ENSG00000109466), KLHL5 (ENSG00000109790), BACH2 (ENSG00000112182), KLHL18 (ENSG00000114648), KLHL24 (ENSG00000114796), IVNS1ABP (ENSG00000116679), KLHL12 (ENSG00000117153), KLHL29 (ENSG00000119771), KBTBD7 (ENSG00000120696), KLHL7 (ENSG00000122550), KLHL31 (ENSG00000124743), KLHDC7B (ENSG00000130487), KLHL36 (ENSG00000135686), KLHL8 (ENSG00000145332), KLHL3 (ENSG00000146021), KLHL35 (ENSG00000149243), KLHL1 (ENSG00000150361), BACH1 (ENSG00000156273), KLHL40 (ENSG00000157119), KLHL10 (ENSG00000161594), KLHL21 (ENSG00000162413), KLHDC8A (ENSG00000162873), KBTBD8 (ENSG00000163376), KBTBD6 (ENSG00000165572), KLHL26 (ENSG00000167487), KLHL30 (ENSG00000168427), KBTBD2 (ENSG00000170852), KLHL6 (ENSG00000172578), KLHL15 (ENSG00000174010), KLHL38 (ENSG00000175946), KBTBD11 (ENSG00000176595), KLHDC7A (ENSG00000179023), KLHL28 (ENSG00000179454), KBTBD3 (ENSG00000182359)
Protein
Protein identifiers
Kelch domain-containing protein 8B — Q8IXV7 (reviewed: Q8IXV7)
All UniProt accessions (1): Q8IXV7
UniProt curated annotations — full annotation on UniProt →
Function. Involved in pinching off the separated nuclei at the cleavage furrow and in cytokinesis. Required for mitotic integrity and maintenance of chromosomal stability. Protects cells against mitotic errors, centrosomal amplification, micronucleus formation and aneuploidy. Plays a key role of midbody function involving abscission of the daughter cells during cytokinesis and appropriate chromosomal and nuclear segregation into the daughter cells.
Subcellular location. Cytoplasm. Midbody.
Disease relevance. Lymphoma, Hodgkin, classic (CHL) [MIM:236000] A malignant disease characterized by progressive enlargement of the lymph nodes, spleen and general lymphoid tissue, and the presence of large, usually multinucleate, cells (Reed-Sternberg cells). Reed-Sternberg cells compose only 1-2% of the total tumor cell mass. The remainder is composed of a variety of reactive, mixed inflammatory cells consisting of lymphocytes, plasma cells, neutrophils, eosinophils and histiocytes. Disease susceptibility is associated with variants affecting the gene represented in this entry. A variant in the 5’-UTR of KLHDC8B, responsible for decreasing its expression, is associated with classic Hodgkin lymphoma and segregates with the disease in some families. A chromosomal aberration disrupting KLHDC8B has been found in a family with the nodular sclerosis type of Hodgkin lymphoma. Translocation t(2,3)(q11.2;p21.31).
RefSeq proteins (1): NP_775817* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR006652 | Kelch_1 | Repeat |
| IPR015915 | Kelch-typ_b-propeller | Homologous_superfamily |
| IPR051746 | Kelch_domain_containing_8 | Family |
Pfam: PF01344, PF24681
UniProt features (9 total): repeat 8, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8IXV7-F1 | 94.79 | 0.92 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 115 (showing top):
GOBP_MITOTIC_CYTOKINESIS, MEF2_02, GOBP_CYTOKINETIC_PROCESS, GGCNKCCATNK_UNKNOWN, GOBP_ORGANELLE_FISSION, GOBP_CYTOKINESIS, NF1_Q6_01, KINSEY_TARGETS_OF_EWSR1_FLII_FUSION_DN, GOBP_MITOTIC_NUCLEAR_DIVISION, GOBP_MITOTIC_CELL_CYCLE, GATA4_Q3, CTAWWWATA_RSRFC4_Q2, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_DN, GOBP_NUCLEAR_CHROMOSOME_SEGREGATION, GOBP_CYTOSKELETON_DEPENDENT_CYTOKINESIS
GO Biological Process (4): nuclear chromosome segregation (GO:0098813), mitotic nuclear division (GO:0140014), mitotic cytokinetic process (GO:1902410), cell division (GO:0051301)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (5): cytoplasm (GO:0005737), cytosol (GO:0005829), midbody (GO:0030496), intercellular bridge (GO:0045171), cellularization cleavage furrow (GO:0110070)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| mitotic cell cycle | 2 |
| mitotic cell cycle process | 2 |
| chromosome segregation | 1 |
| nuclear division | 1 |
| mitotic cytokinesis | 1 |
| cytokinetic process | 1 |
| cellular process | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| plasma membrane region | 1 |
Protein interactions and networks
STRING
526 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| KLHDC8B | BCL11A | Q9H165 | 648 |
| KLHDC8B | CBFA2T3 | O75081 | 647 |
| KLHDC8B | PRR35 | P0CG20 | 597 |
| KLHDC8B | FAM133A | Q8N9E0 | 536 |
| KLHDC8B | RRP36 | Q96EU6 | 532 |
| KLHDC8B | SPMIP7 | A4D263 | 517 |
| KLHDC8B | TRAPPC6B | Q86SZ2 | 500 |
| KLHDC8B | TIGD3 | Q6B0B8 | 499 |
| KLHDC8B | CSF1 | P09603 | 495 |
| KLHDC8B | TOGARAM1 | Q9Y4F4 | 492 |
| KLHDC8B | KCNG3 | Q8TAE7 | 477 |
| KLHDC8B | KBTBD12 | Q3ZCT8 | 473 |
| KLHDC8B | SIPA1L2 | Q9P2F8 | 472 |
| KLHDC8B | AKR1C3 | P42330 | 470 |
| KLHDC8B | CSF1R | P07333 | 468 |
IntAct
28 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CCT2 | TXNDC9 | psi-mi:“MI:0914”(association) | 0.730 |
| PDCL3 | PEX7 | psi-mi:“MI:0914”(association) | 0.640 |
| CCT3 | TXNDC9 | psi-mi:“MI:0914”(association) | 0.640 |
| CCT5 | TXNDC9 | psi-mi:“MI:0914”(association) | 0.640 |
| CCT7 | TXNDC9 | psi-mi:“MI:0914”(association) | 0.640 |
| IMPDH1 | BCAT2 | psi-mi:“MI:0914”(association) | 0.530 |
| CCT7 | PEX7 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNRD2 | CCDC85C | psi-mi:“MI:0914”(association) | 0.530 |
| Dlg4 | KLHDC8B | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| CCT3 | C6orf11 | psi-mi:“MI:0914”(association) | 0.350 |
| CCT7 | C6orf11 | psi-mi:“MI:0914”(association) | 0.350 |
| IMPDH1 | LCMT2 | psi-mi:“MI:0914”(association) | 0.350 |
| CCT2 | WDR91 | psi-mi:“MI:0914”(association) | 0.350 |
| NANOS1 | CNOT1 | psi-mi:“MI:0914”(association) | 0.350 |
| CCT5 | TUBAL3 | psi-mi:“MI:0914”(association) | 0.350 |
| CCT3 | TUBAL3 | psi-mi:“MI:0914”(association) | 0.350 |
| CCT7 | WDR46 | psi-mi:“MI:0914”(association) | 0.350 |
| SHOX | PBX1 | psi-mi:“MI:0914”(association) | 0.350 |
| PDCL3 | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| CAMK2D | PPM1D | psi-mi:“MI:0914”(association) | 0.350 |
| CD226 | TMED7-TICAM2 | psi-mi:“MI:0914”(association) | 0.350 |
| DNAJA2 | ENC1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (11): KLHDC8B (Affinity Capture-MS), KLHDC8B (Affinity Capture-MS), KLHDC8B (Affinity Capture-MS), KLHDC8B (Affinity Capture-MS), KLHDC8B (Affinity Capture-MS), KLHDC8B (Affinity Capture-MS), KLHDC8B (Affinity Capture-MS), KLHDC8B (Affinity Capture-MS), KLHDC8B (Affinity Capture-MS), KLHDC8B (Affinity Capture-MS), KLHDC8B (Affinity Capture-MS)
ESM2 similar proteins: D4A2K4, O70277, O75382, O95294, P49593, P57775, Q08DS0, Q0D2K2, Q12788, Q2KJJ5, Q2TBI8, Q3U410, Q3USL1, Q4G0W2, Q501J2, Q5BK60, Q5E9V5, Q5RCW7, Q5RJL2, Q5SUV1, Q5U2W5, Q5XIA9, Q5ZJ37, Q6PF15, Q6RFH5, Q8BGY4, Q8BNV1, Q8BSF5, Q8C3F7, Q8C4J7, Q8IXV7, Q8IYD2, Q8IZ69, Q8K1S1, Q8N135, Q8NEP7, Q8WU66, Q91XA8, Q96AZ1, Q96I51
Diamond homologs: Q5E9V5, Q5RCW7, Q5XIA9, Q8IXV7, Q8IYD2, Q8N239, Q91XA8, Q9D2D9, O14682, Q0WW40, Q4KLM4, Q6DFF7, Q8R2P1, Q9H0H3, Q0D2A9, Q6NRH0
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 28 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 |
|---|---|---|---|
| Formation of tubulin folding intermediates by CCT/TriC | 5 | 124.4× | 3e-08 |
| Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding | 5 | 120.0× | 3e-08 |
| Chaperonin-mediated protein folding | 5 | 88.4× | 8e-08 |
| Protein folding | 5 | 76.3× | 1e-07 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| protein folding | 5 | 20.7× | 1e-04 |
| protein stabilization | 5 | 13.4× | 8e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
192 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 114 |
| Likely benign | 61 |
| Benign | 4 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
649 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:49171682:GCGG:G | donor_gain | 1.0000 |
| 3:49172780:G:GT | donor_gain | 1.0000 |
| 3:49174237:A:AG | acceptor_gain | 1.0000 |
| 3:49174237:AGAT:A | acceptor_gain | 1.0000 |
| 3:49174238:G:GG | acceptor_gain | 1.0000 |
| 3:49174238:GATG:G | acceptor_gain | 1.0000 |
| 3:49174962:GCATG:G | donor_gain | 1.0000 |
| 3:49174966:GGTGA:G | donor_loss | 1.0000 |
| 3:49174967:G:T | donor_loss | 1.0000 |
| 3:49174968:T:A | donor_loss | 1.0000 |
| 3:49175099:GGA:G | donor_gain | 1.0000 |
| 3:49171681:GGCGG:G | donor_gain | 0.9900 |
| 3:49171682:GCGGG:G | donor_gain | 0.9900 |
| 3:49171683:CGGGT:C | donor_loss | 0.9900 |
| 3:49171684:GG:G | donor_gain | 0.9900 |
| 3:49171684:GGGT:G | donor_loss | 0.9900 |
| 3:49171685:GG:G | donor_gain | 0.9900 |
| 3:49171685:GGTGA:G | donor_loss | 0.9900 |
| 3:49171686:G:GG | donor_gain | 0.9900 |
| 3:49171687:T:G | donor_loss | 0.9900 |
| 3:49174234:TGCAG:T | acceptor_loss | 0.9900 |
| 3:49174235:GCA:G | acceptor_loss | 0.9900 |
| 3:49174236:CA:C | acceptor_loss | 0.9900 |
| 3:49174238:G:A | acceptor_loss | 0.9900 |
| 3:49174238:GAT:G | acceptor_gain | 0.9900 |
| 3:49174967:G:GG | donor_gain | 0.9900 |
| 3:49175060:AG:A | acceptor_gain | 0.9900 |
| 3:49175061:GG:G | acceptor_gain | 0.9900 |
| 3:49171714:G:T | donor_gain | 0.9800 |
| 3:49172631:TCCA:T | acceptor_loss | 0.9800 |
AlphaMissense
2265 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:49174804:T:A | W202R | 0.998 |
| 3:49174804:T:C | W202R | 0.998 |
| 3:49174806:G:C | W202C | 0.998 |
| 3:49174806:G:T | W202C | 0.998 |
| 3:49174840:T:C | F214L | 0.998 |
| 3:49174842:T:A | F214L | 0.998 |
| 3:49174842:T:G | F214L | 0.998 |
| 3:49174930:T:C | F244L | 0.997 |
| 3:49174932:T:A | F244L | 0.997 |
| 3:49174932:T:G | F244L | 0.997 |
| 3:49175108:G:C | R271S | 0.997 |
| 3:49175108:G:T | R271S | 0.997 |
| 3:49175154:G:T | G287W | 0.997 |
| 3:49175155:G:A | G287E | 0.997 |
| 3:49175663:G:C | W309C | 0.997 |
| 3:49175663:G:T | W309C | 0.997 |
| 3:49173090:G:C | W107C | 0.996 |
| 3:49173090:G:T | W107C | 0.996 |
| 3:49174876:A:C | S226R | 0.996 |
| 3:49174878:C:A | S226R | 0.996 |
| 3:49174878:C:G | S226R | 0.996 |
| 3:49174883:G:A | G228D | 0.996 |
| 3:49174931:T:C | F244S | 0.996 |
| 3:49175661:T:A | W309R | 0.996 |
| 3:49175661:T:C | W309R | 0.996 |
| 3:49174840:T:A | F214I | 0.995 |
| 3:49174883:G:T | G228V | 0.995 |
| 3:49174886:G:A | G229D | 0.995 |
| 3:49175067:T:A | W258R | 0.995 |
| 3:49175067:T:C | W258R | 0.995 |
dbSNP variants (sampled 300 via entrez): RS1000172589 (3:49176504 T>G), RS1000315059 (3:49171639 G>A), RS1000620034 (3:49174220 A>G), RS1000667106 (3:49171874 C>A,T), RS1000690219 (3:49176203 G>A), RS1002826752 (3:49170001 G>A), RS1003064599 (3:49176744 G>A,T), RS1003123054 (3:49173761 G>T), RS1003455186 (3:49172057 G>A), RS1003660451 (3:49175288 C>T), RS1004244169 (3:49175359 C>T), RS1005659224 (3:49176912 C>A), RS1005936169 (3:49176275 G>A), RS1006529222 (3:49169644 C>T), RS1006571788 (3:49170551 T>C)
Disease associations
OMIM: gene MIM:613169 | disease phenotypes: MIM:236000
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| classic Hodgkin lymphoma | Limited | Autosomal dominant |
Mondo (1): classic Hodgkin lymphoma (MONDO:0009348)
Orphanet (1): Classic Hodgkin lymphoma (Orphanet:391)
HPO phenotypes
4 total (4 of 4 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0003347 | Impaired lymphocyte transformation with phytohemagglutinin |
| HP:0003459 | Polyclonal elevation of IgM |
| HP:0012189 | Hodgkin lymphoma |
GWAS associations
14 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000880_30 | Menarche (age at onset) | 3.000000e-08 |
| GCST003818_48 | Resting heart rate | 3.000000e-13 |
| GCST004131_23 | Inflammatory bowel disease | 1.000000e-33 |
| GCST004132_17 | Crohn’s disease | 3.000000e-23 |
| GCST004133_11 | Ulcerative colitis | 8.000000e-20 |
| GCST007387_40 | Insomnia symptoms (never/rarely vs. sometimes/usually) | 5.000000e-09 |
| GCST007388_28 | Insomnia symptoms (never/rarely vs. usually) | 2.000000e-09 |
| GCST008840_1 | Depressive symptom (depressed mood) (binary trait) | 8.000000e-10 |
| GCST010698_80 | Subcortical volume (min-P) | 3.000000e-24 |
| GCST010699_110 | Brain morphology (min-P) | 4.000000e-08 |
| GCST010701_52 | Cortical surface area (MOSTest) | 1.000000e-16 |
| GCST010702_36 | Subcortical volume (MOSTest) | 1.000000e-10 |
| GCST010703_262 | Brain morphology (MOSTest) | 2.000000e-13 |
| GCST90020024_1147 | A body shape index | 2.000000e-08 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004703 | age at menarche |
| EFO:0007876 | insomnia measurement |
| EFO:0007006 | depressive symptom measurement |
| EFO:0004346 | neuroimaging measurement |
| EFO:0007789 | BMI-adjusted waist circumference |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
33 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression, affects expression, increases expression | 5 |
| Benzo(a)pyrene | increases expression, decreases expression, decreases methylation | 4 |
| Cadmium Chloride | decreases expression, increases abundance, increases expression | 3 |
| Air Pollutants | increases abundance, decreases expression | 2 |
| Estradiol | affects cotreatment, decreases expression | 2 |
| Nickel | decreases expression | 2 |
| Cyclosporine | decreases expression | 2 |
| Particulate Matter | decreases expression, increases abundance | 2 |
| aristolochic acid I | increases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | decreases expression, increases methylation | 1 |
| trichostatin A | decreases expression | 1 |
| sodium arsenite | increases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression, affects cotreatment, decreases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| Decitabine | affects expression | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Cisplatin | affects expression | 1 |
| Dichlorodiphenyl Dichloroethylene | decreases expression | 1 |
| Doxorubicin | increases expression | 1 |
| Lipopolysaccharides | decreases expression, affects response to substance, increases expression, affects cotreatment | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Niclosamide | increases expression | 1 |
| Smoke | decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Triclosan | decreases expression | 1 |
Clinical trials (associated diseases)
101 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT02166463 | PHASE3 | ACTIVE_NOT_RECRUITING | Brentuximab Vedotin and Combination Chemotherapy in Treating Children and Young Adults With Stage IIB, Stage IIIB, IVA, or IVB Hodgkin Lymphoma |
| NCT02661503 | PHASE3 | ACTIVE_NOT_RECRUITING | HD21 for Advanced Stages |
| NCT02684708 | PHASE3 | COMPLETED | Second International Inter-Group Study for Classical Hodgkin Lymphoma in Children and Adolescents |
| NCT03907488 | PHASE3 | ACTIVE_NOT_RECRUITING | Immunotherapy (Nivolumab or Brentuximab Vedotin) Plus Combination Chemotherapy in Treating Patients With Newly Diagnosed Stage III-IV Classic Hodgkin Lymphoma |
| NCT04342936 | PHASE3 | UNKNOWN | Study of Camrelizumab (SHR-1210) vs. Chemotherapy in Participants With Relapsed or Refractory Classical Hodgkin Lymphoma |
| NCT04486391 | PHASE3 | TERMINATED | Tislelizumab Monotherapy Versus Salvage Chemotherapy for Relapsed/Refractory Classical Hodgkin Lymphoma |
| NCT05518318 | PHASE3 | UNKNOWN | GLS-010 Monotherapy Versus Chemotherapy in Patients With Relapsed or Refractory Classical Hodgkin’s Lymphoma (R/R cHL) |
| NCT05711628 | PHASE3 | WITHDRAWN | A Trial Comparing Chemotherapy Versus Novel Immune Checkpoint Inhibitor (Pembrolizumab) Plus Chemotherapy in Treating Relapsed/Refractory Classical Hodgkin Lymphoma |
| NCT06465446 | PHASE3 | NOT_YET_RECRUITING | A Study of IMM01 Plus Tiselizumab Versus Physician’s Choice Chemotherapy in PD(L)1-refractory Classical Hodgkin Lymphoma |
| NCT00654732 | PHASE2 | COMPLETED | Combination Chemotherapy With or Without Rituximab in Treating Participants With Stage III-IV Classic Hodgkin Lymphoma |
| NCT00742027 | PHASE2 | COMPLETED | Phase II Study of Oral Panobinostat in Adult Participants With Relapsed/Refractory Classical Hodgkin’s Lymphoma |
| NCT00967369 | PHASE2 | COMPLETED | Combination Chemotherapy With or Without Bortezomib in Treating Patients With Classical Hodgkin Lymphoma That Has Returned or Does Not Respond to Prior Treatment. |
| NCT02164500 | PHASE2 | COMPLETED | JAK-inhibition in Recurrent Classical Hodgkin Lymphoma |
| NCT02414568 | PHASE2 | COMPLETED | Bendamustine Study in Classical Hodgkin Lymphoma Patients Over 60 Treated by Prednisone, Vinblastine and Doxorubicin |
| NCT02758717 | PHASE2 | ACTIVE_NOT_RECRUITING | Nivolumab and Brentuximab Vedotin in Treating Older Patients With Untreated Hodgkin Lymphoma |
| NCT02824029 | PHASE2 | COMPLETED | Ibrutinib in Treating Patients With Relapsed or Refractory Classical Hodgkin Lymphoma |
| NCT02940301 | PHASE2 | ACTIVE_NOT_RECRUITING | Ibrutinib and Nivolumab in Treating Patients With Relapsed or Refractory Classical Hodgkin Lymphoma |
| NCT03004833 | PHASE2 | COMPLETED | Nivolumab and AVD in Early-stage Unfavorable Classical Hodgkin Lymphoma |
| NCT03057795 | PHASE2 | ACTIVE_NOT_RECRUITING | Nivolumab & Brentuximab Vedotin Consolidation After Autologous SCT in Patients With High-Risk Classical Hodgkin Lymphoma |
| NCT03209973 | PHASE2 | COMPLETED | A Study of Tislelizumab as Monotherapy in Relapsed or Refractory Classical Hodgkin Lymphoma |
| NCT03226249 | PHASE2 | UNKNOWN | PET-Directed Therapy With Pembrolizumab and Combination Chemotherapy in Treating Patients With Previously Untreated Classical Hodgkin Lymphoma |
| NCT03233347 | PHASE2 | ACTIVE_NOT_RECRUITING | Doxorubicin, Vinblastine, Dacarbazine, Brentuximab Vedotin, and Nivolumab in Treating Patients With Stage I-II Hodgkin Lymphoma |
| NCT03480334 | PHASE2 | ACTIVE_NOT_RECRUITING | Abscopal Effect of Radiotherapy and Nivolumab in Relapsed Hodgkin Lymphoma After Anti-PD1 Therapy |
| NCT03527628 | PHASE2 | UNKNOWN | OPTmizing Advanced Stage HodgkIn LymphoMa patIentS Therapy |
| NCT03580564 | PHASE2 | COMPLETED | An Open, Multicenter Phase II Study to Evaluate the Safety and Efficacy of KL-A167 Injection in Relapsed or Refractory Classical Hodgkin’s Lymphoma |
| NCT03652441 | PHASE2 | COMPLETED | Consolidation Therapy With Brentuximab Vedotin After Allogeneic Stem Cell Transplantation for Relapsed or Refractory Hodgkin Lymphoma |
| NCT03655483 | PHASE2 | UNKNOWN | Study of GLS-010 Injection in the Treatment of Classical Hodgkin’s Lymphoma |
| NCT03712202 | PHASE2 | ACTIVE_NOT_RECRUITING | Brentuximab Vedotin and Nivolumab in Treating Patients With Early Stage Classic Hodgkin Lymphoma |
| NCT04067037 | PHASE2 | ACTIVE_NOT_RECRUITING | Camrelizumab Combined With AVD in the First-line Treatment for Patients With Advanced Classical Hodgkin’s Lymphoma |
| NCT04318080 | PHASE2 | COMPLETED | Tislelizumab in Participants With Relapsed or Refractory Classical Hodgkin Lymphoma |
| NCT04510636 | PHASE2 | RECRUITING | Study of Pembrolizumab With Bendamustine in Hodgkin Lymphoma |
| NCT04624984 | PHASE2 | UNKNOWN | PD-1 Inhibitor or PD-1 Inhibitor Plus GVD for Relapsed/Refractory CHL |
| NCT04788043 | PHASE2 | ACTIVE_NOT_RECRUITING | Study of Magrolimab and Pembrolizumab in Relapsed or Refractory Classic Hodgkin Lymphoma |
| NCT04837859 | PHASE2 | RECRUITING | Phase II Trial of Individualized Immunotherapy in Early-Stage Unfavorable Classical Hodgkin Lymphoma |
| NCT04838652 | PHASE2 | RECRUITING | Pembrolizumab in Combination With Salvage Chemotherapy for First-relapsed or Refractory Classical Hodgkin Lymphoma |
| NCT05008224 | PHASE2 | COMPLETED | Study of Safety and Efficacy of Pembrolizumab and Chemotherapy in Participants With Newly Diagnosed Classical Hodgkin Lymphoma (cHL) (MK-3475-C11/KEYNOTE-C11) |
| NCT05039073 | PHASE2 | RECRUITING | Brentuximab Vedotin and Nivolumab for the Treatment of Relapsed/Refractory Classic Hodgkin Lymphoma Previously Treated With Brentuximab Vedotin or Checkpoint Inhibitors |
| NCT05179603 | PHASE2 | TERMINATED | A Study of SAR444245 With or Without Other Anticancer Therapies for the Treatment of Adults and Adolescents With Relapsed or Refractory B Cell Lymphoma (Master Protocol) [Pegathor Lymphoma 205] |
| NCT05404945 | PHASE2 | ACTIVE_NOT_RECRUITING | Fitness-adapted, Pembrolizumab-based Therapy for Untreated Classical Hodgkin Lymphoma Patients 60 Years of Age and Above |
| NCT05900765 | PHASE2 | RECRUITING | A Study of Zimberelimab(GLS-010) Combined With AVD for Newly Diagnosed Early-stage Hodgkin’s Lymphoma |
Related Atlas pages
- Associated diseases: classic Hodgkin lymphoma
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): classic Hodgkin lymphoma