RCBTB2
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Summary
RCBTB2 (RCC1 and BTB domain containing protein 2, HGNC:1914) is a protein-coding gene on chromosome 13q14.2, encoding RCC1 and BTB domain-containing protein 2 (O95199).
This gene encodes a protein containing two C-terminal BTB/POZ domains that is related to regulator of chromosome condensation (RCC). The encoded protein may act as a guanine nucleotide exchange factor. This gene is observed to be lost or underexpressed in prostate cancers. There is a pseudogene of this gene on chromosome 10. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 1102 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 80 total
- MANE Select transcript:
NM_001268
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:1914 |
| Approved symbol | RCBTB2 |
| Name | RCC1 and BTB domain containing protein 2 |
| Location | 13q14.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000136161 |
| Ensembl biotype | protein_coding |
| OMIM | 603524 |
| Entrez | 1102 |
Gene structure
Transcript identifiers
Ensembl transcripts: 20 — 17 protein_coding, 3 protein_coding_CDS_not_defined
ENST00000344532, ENST00000430805, ENST00000462703, ENST00000481144, ENST00000544492, ENST00000544904, ENST00000611827, ENST00000874757, ENST00000874758, ENST00000874759, ENST00000874760, ENST00000874761, ENST00000874762, ENST00000874763, ENST00000929084, ENST00000959816, ENST00000959817, ENST00000959818, ENST00000959819, ENST00000959820
RefSeq mRNA: 10 — MANE Select: NM_001268
NM_001268, NM_001286830, NM_001286831, NM_001286832, NM_001352424, NM_001352425, NM_001352426, NM_001352427, NM_001352428, NM_001352429
CCDS: CCDS73570, CCDS73571, CCDS73572, CCDS9411
Canonical transcript exons
ENST00000344532 — 15 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000682432 | 48512016 | 48512174 |
| ENSE00000836834 | 48510629 | 48510771 |
| ENSE00001386639 | 48524659 | 48524757 |
| ENSE00001599088 | 48499621 | 48499760 |
| ENSE00001695074 | 48502724 | 48502914 |
| ENSE00001770653 | 48501742 | 48501868 |
| ENSE00001800297 | 48496191 | 48496321 |
| ENSE00001919905 | 48533028 | 48533080 |
| ENSE00001926142 | 48488963 | 48490251 |
| ENSE00002293750 | 48521898 | 48521962 |
| ENSE00003505412 | 48512729 | 48512895 |
| ENSE00003506298 | 48515205 | 48515355 |
| ENSE00003641170 | 48511770 | 48511877 |
| ENSE00003666887 | 48522308 | 48522403 |
| ENSE00003691558 | 48515586 | 48515741 |
Expression profiles
Bgee: expression breadth ubiquitous, 273 present calls, max score 97.73.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.2180 / max 133.5083, expressed in 1539 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 137283 | 4.5588 | 1450 |
| 137284 | 1.6692 | 393 |
| 137260 | 1.6148 | 290 |
| 137282 | 0.5879 | 283 |
| 137258 | 0.3373 | 133 |
| 137261 | 0.2416 | 91 |
| 137259 | 0.1666 | 89 |
| 137285 | 0.0419 | 27 |
Top tissues by expression
286 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 97.73 | gold quality |
| monocyte | CL:0000576 | 97.46 | gold quality |
| mononuclear cell | CL:0000842 | 97.30 | gold quality |
| leukocyte | CL:0000738 | 97.03 | gold quality |
| cranial nerve II | UBERON:0000941 | 95.83 | gold quality |
| parietal pleura | UBERON:0002400 | 95.23 | gold quality |
| visceral pleura | UBERON:0002401 | 94.81 | gold quality |
| pleura | UBERON:0000977 | 94.73 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 94.29 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 94.02 | gold quality |
| seminal vesicle | UBERON:0000998 | 93.70 | gold quality |
| ganglionic eminence | UBERON:0004023 | 92.87 | gold quality |
| ventricular zone | UBERON:0003053 | 92.83 | gold quality |
| granulocyte | CL:0000094 | 92.68 | gold quality |
| parotid gland | UBERON:0001831 | 91.32 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 91.32 | gold quality |
| blood | UBERON:0000178 | 91.24 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 91.08 | gold quality |
| gingival epithelium | UBERON:0001949 | 90.98 | gold quality |
| tibia | UBERON:0000979 | 90.59 | gold quality |
| nephron tubule | UBERON:0001231 | 90.58 | gold quality |
| gingiva | UBERON:0001828 | 90.33 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 90.20 | gold quality |
| minor salivary gland | UBERON:0001830 | 90.03 | gold quality |
| embryo | UBERON:0000922 | 90.01 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 90.01 | gold quality |
| renal glomerulus | UBERON:0000074 | 89.59 | gold quality |
| mouth mucosa | UBERON:0003729 | 89.49 | gold quality |
| squamous epithelium | UBERON:0006914 | 89.44 | gold quality |
| metanephros | UBERON:0000081 | 89.28 | gold quality |
Single-cell (SCXA)
Detected in 5 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-111727 | yes | 1289.30 |
| E-MTAB-5061 | yes | 6.22 |
| E-MTAB-6075 | no | 311.98 |
| E-MTAB-7303 | no | 47.32 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
99 targeting RCBTB2, 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-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-485-3P | 99.98 | 70.68 | 1585 |
| HSA-MIR-539-3P | 99.98 | 70.74 | 1616 |
| HSA-MIR-512-3P | 99.97 | 67.35 | 1049 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-3910 | 99.95 | 71.13 | 2227 |
| HSA-MIR-6835-3P | 99.93 | 70.49 | 2904 |
| HSA-MIR-539-5P | 99.93 | 70.30 | 2855 |
| HSA-MIR-450B-5P | 99.92 | 71.48 | 3175 |
| HSA-MIR-3119 | 99.92 | 71.34 | 2390 |
| HSA-MIR-589-3P | 99.91 | 69.62 | 2088 |
| HSA-MIR-6809-3P | 99.91 | 71.45 | 3814 |
| HSA-MIR-4753-3P | 99.90 | 71.03 | 3786 |
| HSA-MIR-374A-5P | 99.90 | 71.34 | 2923 |
| HSA-MIR-374B-5P | 99.90 | 69.98 | 2734 |
| HSA-MIR-506-3P | 99.89 | 73.55 | 3057 |
| HSA-MIR-124-3P | 99.89 | 73.74 | 3043 |
| HSA-MIR-576-5P | 99.84 | 70.46 | 2582 |
| HSA-MIR-520F-3P | 99.82 | 71.32 | 1216 |
| HSA-MIR-323A-3P | 99.79 | 70.30 | 1739 |
| HSA-MIR-2052 | 99.79 | 69.37 | 2031 |
| HSA-MIR-4713-5P | 99.78 | 67.80 | 1794 |
| HSA-MIR-320A-3P | 99.77 | 69.73 | 2107 |
| HSA-MIR-320B | 99.77 | 69.73 | 2107 |
| HSA-MIR-320C | 99.77 | 69.73 | 2107 |
| HSA-MIR-320D | 99.77 | 69.73 | 2107 |
Literature-anchored findings (GeneRIF, showing 2)
- decreased expression in prostate cancer associated with the difference in frequency of variant isoforms between normal and neoplastic prostate tissues places it in a pivotal role or possibly adjacent to a gene with that role in prostate cancer evolution (PMID:12115502)
- Expression of CLLD7 and CHC1L Proteins in Oral Epithelial Dysplasia in a Group of Thai Patients. (PMID:38679985)
Cross-species orthologs
7 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | rcbtb2 | ENSDARG00000090687 |
| mus_musculus | Rcbtb2 | ENSMUSG00000022106 |
| rattus_norvegicus | Rcbtb2 | ENSRNOG00000015054 |
| drosophila_melanogaster | ca | FBGN0000247 |
| drosophila_melanogaster | Rcc1 | FBGN0002638 |
| drosophila_melanogaster | CG7420 | FBGN0031344 |
| caenorhabditis_elegans | WBGENE00004304 |
Paralogs (9): ALS2 (ENSG00000003393), HERC1 (ENSG00000103657), SERGEF (ENSG00000129158), RCBTB1 (ENSG00000136144), RPGR (ENSG00000156313), RCCD1 (ENSG00000166965), RCC2 (ENSG00000179051), RCC1 (ENSG00000180198), RCC1L (ENSG00000274523)
Protein
Protein identifiers
RCC1 and BTB domain-containing protein 2 — O95199 (reviewed: O95199)
Alternative names: Chromosome condensation 1-like, RCC1-like G exchanging factor, Regulator of chromosome condensation and BTB domain-containing protein 2
All UniProt accessions (3): B4DWG0, B4E372, O95199
UniProt curated annotations — full annotation on UniProt →
Subcellular location. Cytoplasmic vesicle. Secretory vesicle. Acrosome.
Domain organisation. The BTB domain might play a role in targeting to acrosomal vesicles.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O95199-1 | 1 | yes |
| O95199-2 | 2 |
RefSeq proteins (10): NP_001259, NP_001273759, NP_001273760, NP_001273761, NP_001339353, NP_001339354, NP_001339355, NP_001339356, NP_001339357, NP_001339358 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000210 | BTB/POZ_dom | Domain |
| IPR000408 | Reg_chr_condens | Repeat |
| IPR009091 | RCC1/BLIP-II | Homologous_superfamily |
| IPR011333 | SKP1/BTB/POZ_sf | Homologous_superfamily |
| IPR051625 | Signaling_Regulatory_Domain | Family |
| IPR058923 | RCC1-like_dom | Domain |
Pfam: PF00651, PF25390
UniProt features (11 total): repeat 6, sequence variant 2, chain 1, domain 1, splice variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O95199-F1 | 90.45 | 0.73 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 263 (showing top):
GOBP_HEPATICOBILIARY_SYSTEM_DEVELOPMENT, GOCC_SECRETORY_GRANULE, MODULE_45, GOBP_LYMPH_NODE_DEVELOPMENT, THEILGAARD_NEUTROPHIL_AT_SKIN_WOUND_DN, TAKADA_GASTRIC_CANCER_COPY_NUMBER_DN, GOBP_DIGESTIVE_SYSTEM_DEVELOPMENT, DEURIG_T_CELL_PROLYMPHOCYTIC_LEUKEMIA_DN, ODONNELL_TARGETS_OF_MYC_AND_TFRC_UP, GOBP_HEMATOPOIETIC_OR_LYMPHOID_ORGAN_DEVELOPMENT, COATES_MACROPHAGE_M1_VS_M2_UP, BASSO_HAIRY_CELL_LEUKEMIA_UP, ZHOU_INFLAMMATORY_RESPONSE_LIVE_DN, SCHLOSSER_SERUM_RESPONSE_DN, AACTTT_UNKNOWN
GO Biological Process (5): liver development (GO:0001889), cell population proliferation (GO:0008283), lymph node development (GO:0048535), spleen development (GO:0048536), digestive tract development (GO:0048565)
GO Molecular Function (2): guanyl-nucleotide exchange factor activity (GO:0005085), protein binding (GO:0005515)
GO Cellular Component (3): acrosomal vesicle (GO:0001669), cytoplasm (GO:0005737), cytoplasmic vesicle (GO:0031410)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| hematopoietic or lymphoid organ development | 2 |
| gland development | 1 |
| hepaticobiliary system development | 1 |
| cellular process | 1 |
| tube development | 1 |
| digestive system development | 1 |
| GTP binding | 1 |
| GDP binding | 1 |
| GTPase regulator activity | 1 |
| binding | 1 |
| secretory granule | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
| cytoplasm | 1 |
| intracellular vesicle | 1 |
Protein interactions and networks
STRING
814 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RCBTB2 | LPAR6 | P43657 | 641 |
| RCBTB2 | ITM2B | Q9Y287 | 629 |
| RCBTB2 | FNDC3A | Q9Y2H6 | 531 |
| RCBTB2 | CDADC1 | Q9BWV3 | 517 |
| RCBTB2 | CYSLTR2 | Q9NS75 | 489 |
| RCBTB2 | TSSK4 | Q6SA08 | 489 |
| RCBTB2 | SETDB2 | Q96T68 | 478 |
| RCBTB2 | AGTR1 | P30556 | 470 |
| RCBTB2 | PHF11 | Q9UIL8 | 465 |
| RCBTB2 | AFAP1L1 | Q8TED9 | 463 |
| RCBTB2 | MLNR | O43193 | 460 |
| RCBTB2 | GRPEL2 | Q8TAA5 | 459 |
| RCBTB2 | ZNF608 | Q9ULD9 | 446 |
| RCBTB2 | PRSS55 | Q6UWB4 | 436 |
| RCBTB2 | CAB39L | Q9H9S4 | 425 |
IntAct
61 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| HDAC3 | TBL1X | psi-mi:“MI:0914”(association) | 0.760 |
| FARS2 | RCBTB2 | psi-mi:“MI:0915”(physical association) | 0.720 |
| RCBTB2 | FARS2 | psi-mi:“MI:0915”(physical association) | 0.720 |
| IGF2BP1 | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.640 |
| PIK3R2 | IRS4 | psi-mi:“MI:0914”(association) | 0.640 |
| RCBTB2 | UBE2I | psi-mi:“MI:0915”(physical association) | 0.560 |
| UBE2I | RCBTB2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RCBTB2 | TAE1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TAE1 | RCBTB2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RCBTB2 | MORF4L1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PLA2G6 | RCBTB2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RBBP9 | RCBTB2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RCBTB2 | NUDCD2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RCBTB2 | RCBTB2 | psi-mi:“MI:0915”(physical association) | 0.550 |
| TTK | RCBTB2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| USP10 | RCBTB2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| VRK3 | RCBTB2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| RUNX3 | RCBTB2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| RCBTB2 | HSP90AB1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| PDE4B | RCBTB2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| RCBTB2 | COPS4 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ATXN2L | MCRIP1 | psi-mi:“MI:0914”(association) | 0.350 |
| CAPRIN1 | EIF3CL | psi-mi:“MI:0914”(association) | 0.350 |
| CLASP1 | KIF2A | psi-mi:“MI:0914”(association) | 0.350 |
| CLASP2 | TAF5L | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (69): RCBTB2 (Two-hybrid), UBE2I (Two-hybrid), FARS2 (Two-hybrid), RCBTB2 (Affinity Capture-MS), RCBTB2 (Affinity Capture-MS), COPS4 (Two-hybrid), RCBTB2 (Two-hybrid), RCBTB2 (Affinity Capture-MS), RCBTB2 (Affinity Capture-MS), RCBTB1 (Affinity Capture-MS), RCBTB2 (Affinity Capture-MS), FECH (Affinity Capture-MS), RCBTB2 (Affinity Capture-MS), RCBTB2 (Affinity Capture-MS), RCBTB2 (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: A1L4W5, B7U179, B9DHT4, E9Q4F2, F7ASZ0, G5E8B9, M3XQV7, O22286, O43791, O94889, O95199, O95625, P17789, P28575, P42282, P57790, P58545, Q0IHH9, Q0V9W6, Q0VCW1, Q14145, Q1EBV6, Q2LE78, Q2M2N2, Q54D84, Q5BL35, Q5NVK7, Q5R774, Q5RCZ7, Q5TC79, Q5TZE1, Q684M4, Q6DEL7, Q6IQ16, Q6NRH0, Q6P8B3, Q6YCH2, Q6ZWS8, Q7T330, Q7ZX06
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 57 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 |
|---|---|---|---|
| Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal | 5 | 14.6× | 8e-03 |
| EML4 and NUDC in mitotic spindle formation | 5 | 11.6× | 8e-03 |
| Resolution of Sister Chromatid Cohesion | 5 | 10.8× | 8e-03 |
| RHO GTPases Activate Formins | 5 | 9.7× | 8e-03 |
| Mitotic Prometaphase | 5 | 8.7× | 9e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
80 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 70 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2039 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 13:48496185:CCTTA:C | donor_loss | 1.0000 |
| 13:48496186:CTTA:C | donor_loss | 1.0000 |
| 13:48496187:TTAC:T | donor_loss | 1.0000 |
| 13:48499623:A:AC | donor_gain | 1.0000 |
| 13:48499623:ACTG:A | donor_gain | 1.0000 |
| 13:48499624:C:CC | donor_gain | 1.0000 |
| 13:48499624:CTGC:C | donor_gain | 1.0000 |
| 13:48501737:CTT:C | donor_loss | 1.0000 |
| 13:48501738:TTACC:T | donor_loss | 1.0000 |
| 13:48501740:A:AC | donor_gain | 1.0000 |
| 13:48501740:ACCGA:A | donor_loss | 1.0000 |
| 13:48501741:C:CC | donor_gain | 1.0000 |
| 13:48501741:C:CG | donor_loss | 1.0000 |
| 13:48501780:T:A | donor_gain | 1.0000 |
| 13:48501864:AGGTT:A | acceptor_gain | 1.0000 |
| 13:48501865:GGTT:G | acceptor_gain | 1.0000 |
| 13:48501866:GTT:G | acceptor_gain | 1.0000 |
| 13:48501867:TT:T | acceptor_gain | 1.0000 |
| 13:48501868:TC:T | acceptor_loss | 1.0000 |
| 13:48501869:C:CC | acceptor_gain | 1.0000 |
| 13:48501869:CT:C | acceptor_loss | 1.0000 |
| 13:48502719:CTTA:C | donor_loss | 1.0000 |
| 13:48502720:TTACC:T | donor_loss | 1.0000 |
| 13:48502722:A:AC | donor_gain | 1.0000 |
| 13:48502722:AC:A | donor_gain | 1.0000 |
| 13:48502723:C:CC | donor_gain | 1.0000 |
| 13:48502723:CC:C | donor_gain | 1.0000 |
| 13:48502723:CCCA:C | donor_gain | 1.0000 |
| 13:48502910:TAATC:T | acceptor_gain | 1.0000 |
| 13:48502916:T:G | acceptor_loss | 1.0000 |
AlphaMissense
3603 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 13:48490234:G:C | C511W | 1.000 |
| 13:48496211:C:G | A499P | 1.000 |
| 13:48496269:G:C | C479W | 1.000 |
| 13:48496306:G:T | A467D | 1.000 |
| 13:48496318:A:G | L463P | 1.000 |
| 13:48490120:A:C | F549L | 0.999 |
| 13:48490120:A:T | F549L | 0.999 |
| 13:48490121:A:G | F549S | 0.999 |
| 13:48490122:A:G | F549L | 0.999 |
| 13:48490139:G:T | A543E | 0.999 |
| 13:48490140:C:G | A543P | 0.999 |
| 13:48490151:A:G | F539S | 0.999 |
| 13:48490222:G:C | C515W | 0.999 |
| 13:48490224:A:G | C515R | 0.999 |
| 13:48490225:A:C | F514L | 0.999 |
| 13:48490225:A:T | F514L | 0.999 |
| 13:48490227:A:G | F514L | 0.999 |
| 13:48490235:C:T | C511Y | 0.999 |
| 13:48490236:A:G | C511R | 0.999 |
| 13:48496210:G:T | A499E | 0.999 |
| 13:48496219:A:G | L496P | 0.999 |
| 13:48496222:A:G | L495P | 0.999 |
| 13:48496231:G:T | A492D | 0.999 |
| 13:48496258:A:T | I483N | 0.999 |
| 13:48496270:C:T | C479Y | 0.999 |
| 13:48496271:A:G | C479R | 0.999 |
| 13:48496282:A:G | L475S | 0.999 |
| 13:48496307:C:G | A467P | 0.999 |
| 13:48496309:A:G | L466S | 0.999 |
| 13:48496315:A:G | L464P | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000097334 (13:48517780 C>G), RS1000186103 (13:48532984 C>A,T), RS1000197989 (13:48536216 G>A), RS1000239366 (13:48504839 G>C), RS1000251667 (13:48534773 T>C,G), RS1000324781 (13:48492411 C>T), RS1000463841 (13:48498652 A>G), RS1000499211 (13:48522557 C>T), RS1000529645 (13:48517410 C>A), RS1000550019 (13:48506298 C>T), RS1000575112 (13:48503357 A>T), RS1000625884 (13:48500410 T>C,G), RS1000658628 (13:48500212 TAAG>T), RS1000687075 (13:48497095 C>T), RS1000751557 (13:48498506 G>A,T)
Disease associations
OMIM: gene MIM:603524 | disease phenotypes: MIM:612073
GenCC curated gene-disease
Mondo (1): mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria (MONDO:0012791)
Orphanet (1): Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria (Orphanet:1933)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST009391_118 | Metabolite levels | 5.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0010354 | diacylglycerol 36:1 measurement |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| C567624 | Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
40 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression, affects expression | 7 |
| bisphenol A | affects cotreatment, increases methylation, decreases expression, decreases methylation, increases expression | 3 |
| Tretinoin | increases expression | 3 |
| methylmercuric chloride | decreases expression | 2 |
| sodium arsenite | affects expression, increases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| Cyclosporine | decreases expression | 2 |
| GSK-J4 | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| sodium bichromate | decreases expression | 1 |
| potassium chromate(VI) | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| motexafin gadolinium | affects cotreatment, decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| belinostat | decreases expression | 1 |
| abrine | increases expression | 1 |
| dorsomorphin | decreases expression, affects cotreatment | 1 |
| gardiquimod | decreases reaction, decreases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Zoledronic Acid | increases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Air Pollutants, Occupational | decreases expression | 1 |
| Cisplatin | increases expression | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Diethylhexyl Phthalate | decreases expression | 1 |
| Diuron | decreases expression | 1 |
| Drugs, Chinese Herbal | decreases expression | 1 |
| Ethyl Methanesulfonate | increases expression | 1 |
| Fluorouracil | affects expression | 1 |
Cellosaurus cell lines
3 cell lines: 3 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_TI65 | HAP1 RCBTB2 (-) 1 | Cancer cell line | Male |
| CVCL_XS18 | HAP1 RCBTB2 (-) 2 | Cancer cell line | Male |
| CVCL_XS19 | HAP1 RCBTB2 (-) 3 | Cancer cell line | Male |
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): mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria