CCPG1
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Also known as KIAA1254CPR8
Summary
CCPG1 (cell cycle progression 1, HGNC:24227) is a protein-coding gene on chromosome 15q21.3, encoding Cell cycle progression protein 1 (Q9ULG6). Acts as an assembly platform for Rho protein signaling complexes.
Involved in positive regulation of cell cycle and positive regulation of cell population proliferation. Predicted to be active in membrane.
Source: NCBI Gene 9236 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 133 total — 3 pathogenic, 1 likely-pathogenic
- MANE Select transcript:
NM_001204450
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:24227 |
| Approved symbol | CCPG1 |
| Name | cell cycle progression 1 |
| Location | 15q21.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA1254, CPR8 |
| Ensembl gene | ENSG00000260916 |
| Ensembl biotype | protein_coding |
| OMIM | 611326 |
| Entrez | 9236 |
Gene structure
Transcript identifiers
Ensembl transcripts: 19 — 16 protein_coding, 1 protein_coding_CDS_not_defined, 1 retained_intron, 1 nonsense_mediated_decay
ENST00000310958, ENST00000425574, ENST00000442196, ENST00000563171, ENST00000563294, ENST00000564092, ENST00000564663, ENST00000568372, ENST00000568543, ENST00000568592, ENST00000568808, ENST00000569205, ENST00000570272, ENST00000858134, ENST00000946864, ENST00000946865, ENST00000946866, ENST00000946867, ENST00000946868
RefSeq mRNA: 4 — MANE Select: NM_001204450
NM_001204450, NM_001204451, NM_004748, NM_020739
CCDS: CCDS42039, CCDS55966, CCDS55967
Canonical transcript exons
ENST00000442196 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002219653 | 55408221 | 55408359 |
| ENSE00002624731 | 55355239 | 55356409 |
| ENSE00003458310 | 55376949 | 55377150 |
| ENSE00003486405 | 55371793 | 55372044 |
| ENSE00003507746 | 55378300 | 55378376 |
| ENSE00003521477 | 55385600 | 55385714 |
| ENSE00003551192 | 55389365 | 55389433 |
| ENSE00003600229 | 55365188 | 55365309 |
| ENSE00003667678 | 55359539 | 55360944 |
Expression profiles
Bgee: expression breadth ubiquitous, 223 present calls, max score 98.37.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 53.2480 / max 1052.4816, expressed in 1818 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 150094 | 30.5171 | 1792 |
| 150095 | 20.4779 | 1772 |
| 150092 | 1.6592 | 788 |
| 150093 | 0.3242 | 155 |
| 150091 | 0.1902 | 70 |
| 207529 | 0.0793 | 30 |
Top tissues by expression
266 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| calcaneal tendon | UBERON:0003701 | 98.37 | gold quality |
| colonic epithelium | UBERON:0000397 | 97.69 | gold quality |
| body of pancreas | UBERON:0001150 | 97.35 | gold quality |
| gall bladder | UBERON:0002110 | 97.09 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 96.66 | gold quality |
| thoracic aorta | UBERON:0001515 | 96.20 | gold quality |
| ascending aorta | UBERON:0001496 | 96.15 | gold quality |
| monocyte | CL:0000576 | 96.10 | gold quality |
| mononuclear cell | CL:0000842 | 95.31 | gold quality |
| pancreas | UBERON:0001264 | 95.27 | gold quality |
| right coronary artery | UBERON:0001625 | 95.27 | gold quality |
| aorta | UBERON:0000947 | 95.26 | gold quality |
| stromal cell of endometrium | CL:0002255 | 95.23 | gold quality |
| rectum | UBERON:0001052 | 95.20 | gold quality |
| leukocyte | CL:0000738 | 95.19 | gold quality |
| islet of Langerhans | UBERON:0000006 | 95.15 | gold quality |
| adenohypophysis | UBERON:0002196 | 95.13 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 95.05 | gold quality |
| popliteal artery | UBERON:0002250 | 94.85 | gold quality |
| tibial artery | UBERON:0007610 | 94.85 | gold quality |
| left coronary artery | UBERON:0001626 | 94.75 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 94.65 | gold quality |
| right frontal lobe | UBERON:0002810 | 94.60 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 94.44 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 94.36 | gold quality |
| mucosa of stomach | UBERON:0001199 | 94.16 | gold quality |
| gastrocnemius | UBERON:0001388 | 94.15 | gold quality |
| cerebellar cortex | UBERON:0002129 | 94.12 | gold quality |
| sural nerve | UBERON:0015488 | 94.11 | gold quality |
| adrenal tissue | UBERON:0018303 | 93.99 | gold quality |
Single-cell (SCXA)
Detected in 13 experiment(s), a significant marker in 8.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-3929 | yes | 746.29 |
| E-MTAB-6819 | yes | 538.89 |
| E-CURD-88 | yes | 87.79 |
| E-HCAD-4 | yes | 38.23 |
| E-CURD-46 | yes | 31.04 |
| E-MTAB-8410 | yes | 29.47 |
| E-ANND-3 | yes | 15.02 |
| E-MTAB-9801 | yes | 9.01 |
| E-GEOD-110499 | no | 2460.32 |
| E-GEOD-124858 | no | 1228.16 |
| E-MTAB-6075 | no | 1086.80 |
| E-MTAB-7303 | no | 216.67 |
| E-MTAB-6142 | no | 140.32 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): GLI1
miRNA regulators (miRDB)
151 targeting CCPG1, 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-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-4776-3P | 100.00 | 68.73 | 1340 |
| HSA-MIR-513B-5P | 99.99 | 69.96 | 2150 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-545-3P | 99.95 | 70.74 | 2783 |
| HSA-MIR-1236-3P | 99.94 | 68.04 | 1695 |
| HSA-MIR-4760-3P | 99.93 | 70.50 | 2385 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-205-3P | 99.92 | 69.92 | 3165 |
| HSA-MIR-3119 | 99.92 | 71.34 | 2390 |
| HSA-MIR-1305 | 99.91 | 71.43 | 3443 |
| HSA-MIR-6809-3P | 99.91 | 71.45 | 3814 |
| HSA-MIR-10527-5P | 99.91 | 72.28 | 3754 |
| HSA-MIR-12119 | 99.87 | 68.35 | 1653 |
Literature-anchored findings (GeneRIF, showing 2)
- identification of cell-cycle progression gene 1 (CCPG1), an ER-resident protein, as a non-canonical cargo receptor that directly binds to core autophagy proteins via an LIR motif to mammalian ATG8 proteins and, independently and via a discrete motif, to FIP200. (PMID:29290589)
- Clinical and prognostic significance of CCPG1 in hepatocellular carcinoma. (PMID:37702448)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Ccpg1 | ENSMUSG00000034563 |
| rattus_norvegicus | Ccpg1 | ENSRNOG00000053428 |
Protein
Protein identifiers
Cell cycle progression protein 1 — Q9ULG6 (reviewed: Q9ULG6)
Alternative names: Cell cycle progression restoration protein 8
All UniProt accessions (8): H3BN32, H3BNE2, H3BPP4, H3BQN1, H3BR24, H3BTZ1, H3BV63, Q9ULG6
UniProt curated annotations — full annotation on UniProt →
Function. Acts as an assembly platform for Rho protein signaling complexes. Limits guanine nucleotide exchange activity of MCF2L toward RHOA, which results in an inhibition of both its transcriptional activation ability and its transforming activity. Does not inhibit activity of MCF2L toward CDC42, or activity of MCF2 toward either RHOA or CDC42. May be involved in cell cycle regulation.
Subunit / interactions. Interacts with MCF2L. May interact with MCF2, ARHGEF1, BCR, VAV1 and FGD1, but not with TIAM1. Interacts with GTP-bound CDC42 and SRC.
Subcellular location. Cytoplasmic granule membrane.
Similarity. Belongs to the CCPG1 family.
Isoforms (5)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9ULG6-1 | 1 | yes |
| Q9ULG6-2 | 2 | |
| Q9ULG6-3 | 3 | |
| Q9ULG6-4 | 4 | |
| Q9ULG6-5 | 5 |
RefSeq proteins (4): NP_001191379, NP_001191380, NP_004739, NP_065790 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR051990 | CCPG1/PBIP1 | Family |
UniProt features (38 total): sequence variant 12, splice variant 6, compositionally biased region 4, sequence conflict 4, region of interest 3, coiled-coil region 3, topological domain 2, chain 1, modified residue 1, transmembrane region 1, strand 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7D0E | X-RAY DIFFRACTION | 1.4 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9ULG6-F1 | 62.96 | 0.13 |
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 (1): 186
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 230 (showing top):
AGGAAGC_MIR5163P, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GOZGIT_ESR1_TARGETS_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, RIZKI_TUMOR_INVASIVENESS_3D_DN, GOBP_MACROAUTOPHAGY, SHAFFER_IRF4_TARGETS_IN_PLASMA_CELL_VS_MATURE_B_LYMPHOCYTE, GOBP_REGULATION_OF_CELL_CYCLE, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_5, AAAGGGA_MIR204_MIR211, TGTTTAC_MIR30A5P_MIR30C_MIR30D_MIR30B_MIR30E5P, WHN_B, CUI_TCF21_TARGETS_2_DN, VECCHI_GASTRIC_CANCER_EARLY_DN, PODAR_RESPONSE_TO_ADAPHOSTIN_UP
GO Biological Process (4): positive regulation of cell population proliferation (GO:0008284), positive regulation of cell cycle (GO:0045787), positive regulation of transcription by RNA polymerase II (GO:0045944), reticulophagy (GO:0061709)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (1): membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| positive regulation of cellular process | 2 |
| cell population proliferation | 1 |
| regulation of cell population proliferation | 1 |
| cell cycle | 1 |
| regulation of cell cycle | 1 |
| regulation of transcription by RNA polymerase II | 1 |
| transcription by RNA polymerase II | 1 |
| positive regulation of DNA-templated transcription | 1 |
| macroautophagy | 1 |
| binding | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1382 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CCPG1 | RB1CC1 | Q8TDY2 | 989 |
| CCPG1 | GABARAP | O95166 | 881 |
| CCPG1 | RETREG1 | Q9H6L5 | 818 |
| CCPG1 | ATL3 | Q6DD88 | 817 |
| CCPG1 | SEC62 | Q99442 | 816 |
| CCPG1 | TEX264 | Q9Y6I9 | 816 |
| CCPG1 | RTN3 | O95197 | 776 |
| CCPG1 | GABARAPL2 | P60520 | 734 |
| CCPG1 | F5GZY7 | F5GZY7 | 732 |
| CCPG1 | CD300C | Q08708 | 622 |
| CCPG1 | CALCOCO1 | Q9P1Z2 | 601 |
| CCPG1 | OPTN | Q96CV9 | 545 |
| CCPG1 | RETREG3 | Q86VR2 | 537 |
| CCPG1 | SQSTM1 | Q13501 | 520 |
| CCPG1 | AGBL3 | Q8NEM8 | 509 |
| CCPG1 | CALCOCO2 | Q13137 | 509 |
IntAct
80 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TNFSF14 | TMEM11 | psi-mi:“MI:0914”(association) | 0.670 |
| TRDN | TMEM223 | psi-mi:“MI:0914”(association) | 0.640 |
| MANSC1 | KLRG2 | psi-mi:“MI:0914”(association) | 0.530 |
| CHRNA9 | CHEK1 | psi-mi:“MI:0914”(association) | 0.530 |
| GABRE | FZD6 | psi-mi:“MI:0914”(association) | 0.530 |
| ADAM21 | PLXNA2 | psi-mi:“MI:0914”(association) | 0.530 |
| SLC22A15 | ZFPL1 | psi-mi:“MI:0914”(association) | 0.530 |
| GABRD | ATF6 | psi-mi:“MI:0914”(association) | 0.530 |
| PKD2L2 | PKD2 | psi-mi:“MI:0914”(association) | 0.530 |
| TMED3 | HS1BP3 | psi-mi:“MI:0914”(association) | 0.530 |
| CYB5D2 | ABLIM1 | psi-mi:“MI:0914”(association) | 0.530 |
| EGFL8 | MPO | psi-mi:“MI:0914”(association) | 0.530 |
| FBXO2 | TMEM131L | psi-mi:“MI:0914”(association) | 0.530 |
| KCNK16 | B3GAT3 | psi-mi:“MI:0914”(association) | 0.530 |
| PIGT | ZNF609 | psi-mi:“MI:0914”(association) | 0.530 |
| TMEM106A | B4GALT3 | psi-mi:“MI:0914”(association) | 0.530 |
| MAP1LC3B | CCPG1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| MAP1LC3A | CCPG1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ESYT2 | psi-mi:“MI:0914”(association) | 0.350 | |
| HAX1 | psi-mi:“MI:0914”(association) | 0.350 | |
| M2 | IPO5 | psi-mi:“MI:0914”(association) | 0.350 |
| COPS5 | FBLL1 | psi-mi:“MI:0914”(association) | 0.350 |
| M | psi-mi:“MI:0914”(association) | 0.350 | |
| SURF4 | psi-mi:“MI:0914”(association) | 0.350 | |
| rep | MYCBP2 | psi-mi:“MI:0914”(association) | 0.350 |
| INSR | HAX1 | psi-mi:“MI:0914”(association) | 0.350 |
| NTRK3 | ILVBL | psi-mi:“MI:0914”(association) | 0.350 |
| ATG101 | EMC8 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (147): CCPG1 (Affinity Capture-MS), CCPG1 (Affinity Capture-MS), CCPG1 (Affinity Capture-MS), CCPG1 (Affinity Capture-MS), CCPG1 (Affinity Capture-MS), CCPG1 (Affinity Capture-MS), CCPG1 (Affinity Capture-MS), CCPG1 (Affinity Capture-MS), CCPG1 (Affinity Capture-MS), CCPG1 (Affinity Capture-MS), CCPG1 (Affinity Capture-MS), CCPG1 (Affinity Capture-MS), CCPG1 (Affinity Capture-MS), CCPG1 (Affinity Capture-MS), CCPG1 (Affinity Capture-MS)
ESM2 similar proteins: A0A2R8Q3S9, A2VCV0, A9ULX8, E1BN97, F1NVK6, F6UF99, P28236, P79169, P79368, Q06220, Q09108, Q0P557, Q0VA42, Q1LZF8, Q28132, Q29030, Q2T9I9, Q3B7T8, Q3V0J1, Q5PQX1, Q5R6R3, Q5T5J6, Q5ZM60, Q640L3, Q640U0, Q66H73, Q6PAV5, Q6PG04, Q7ZX27, Q7ZXV6, Q8K4Q9, Q8N4S0, Q8TDY2, Q90314, Q90WN7, Q91892, Q921T2, Q95M19, Q95MD2, Q95N18
Diamond homologs: A2VD12, A6QLY7, Q3TVI8, Q5R6R3, Q5ZM60, Q96AQ6, Q9ULG6, Q640L3
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 133 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.
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| ERAD pathway | 7 | 11.1× | 2e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
133 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 3 |
| Likely pathogenic | 1 |
| Uncertain significance | 110 |
| Likely benign | 15 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (4)
| Variant ID | HGVS | Classification |
|---|---|---|
| 2425233 | NC_000015.9:g.(?55497705)(55790527_?)del | Pathogenic |
| 3243875 | NC_000015.9:g.(?55646976)(55647630_?)del | Pathogenic |
| 58571 | GRCh38/hg38 15q21.3(chr15:55279032-55622007)x3 | Pathogenic |
| 3243904 | NC_000015.9:g.(?55611449)(55722997_?)del | Likely pathogenic |
SpliceAI
2917 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 15:55340603:C:CA | acceptor_gain | 1.0000 |
| 15:55340752:T:TA | acceptor_gain | 1.0000 |
| 15:55341737:GCAT:G | acceptor_gain | 1.0000 |
| 15:55341800:GTG:G | donor_gain | 1.0000 |
| 15:55354794:A:AG | acceptor_gain | 1.0000 |
| 15:55354795:T:G | acceptor_gain | 1.0000 |
| 15:55354796:A:AG | acceptor_gain | 1.0000 |
| 15:55354797:G:GA | acceptor_gain | 1.0000 |
| 15:55354797:GCC:G | acceptor_gain | 1.0000 |
| 15:55354797:GCCA:G | acceptor_gain | 1.0000 |
| 15:55354797:GCCAT:G | acceptor_gain | 1.0000 |
| 15:55354976:GAGGT:G | donor_loss | 1.0000 |
| 15:55354978:GGT:G | donor_loss | 1.0000 |
| 15:55354979:GTA:G | donor_loss | 1.0000 |
| 15:55354980:T:A | donor_loss | 1.0000 |
| 15:55355343:A:AG | acceptor_gain | 1.0000 |
| 15:55365183:CATA:C | donor_loss | 1.0000 |
| 15:55365184:ATACC:A | donor_loss | 1.0000 |
| 15:55365185:TACC:T | donor_loss | 1.0000 |
| 15:55371787:ACTT:A | donor_loss | 1.0000 |
| 15:55371788:CTTA:C | donor_loss | 1.0000 |
| 15:55371789:TTA:T | donor_loss | 1.0000 |
| 15:55371790:TACCA:T | donor_loss | 1.0000 |
| 15:55371792:C:A | donor_loss | 1.0000 |
| 15:55371882:AACT:A | donor_gain | 1.0000 |
| 15:55371882:AACTC:A | donor_gain | 1.0000 |
| 15:55371883:A:C | donor_gain | 1.0000 |
| 15:55372040:AAATA:A | acceptor_gain | 1.0000 |
| 15:55372041:AATA:A | acceptor_gain | 1.0000 |
| 15:55372042:ATA:A | acceptor_gain | 1.0000 |
AlphaMissense
5428 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 15:55360187:A:T | V529D | 0.999 |
| 15:55360199:A:G | F525S | 0.999 |
| 15:55360208:A:G | L522P | 0.999 |
| 15:55360233:C:G | A514P | 0.999 |
| 15:55360264:A:C | F503L | 0.999 |
| 15:55360264:A:T | F503L | 0.999 |
| 15:55360265:A:C | F503C | 0.999 |
| 15:55360266:A:G | F503L | 0.999 |
| 15:55371815:G:C | S228R | 0.999 |
| 15:55371815:G:T | S228R | 0.999 |
| 15:55371817:T:G | S228R | 0.999 |
| 15:55360198:G:C | F525L | 0.998 |
| 15:55360198:G:T | F525L | 0.998 |
| 15:55360200:A:G | F525L | 0.998 |
| 15:55360224:C:G | A517P | 0.998 |
| 15:55360249:T:A | K508N | 0.998 |
| 15:55360249:T:G | K508N | 0.998 |
| 15:55360250:T:A | K508I | 0.998 |
| 15:55360254:G:C | H507D | 0.998 |
| 15:55360265:A:G | F503S | 0.998 |
| 15:55371822:G:T | A226E | 0.998 |
| 15:55360166:A:G | F536S | 0.997 |
| 15:55360175:A:G | F533S | 0.997 |
| 15:55360191:A:G | S528P | 0.997 |
| 15:55360199:A:C | F525C | 0.997 |
| 15:55360229:T:A | K515I | 0.997 |
| 15:55360241:A:C | I511S | 0.997 |
| 15:55360241:A:G | I511T | 0.997 |
| 15:55360282:C:A | K497N | 0.997 |
| 15:55360282:C:G | K497N | 0.997 |
dbSNP variants (sampled 300 via entrez): RS1000026981 (15:55364787 C>T), RS1000204296 (15:55357084 A>G), RS1000220301 (15:55380422 A>G), RS1000232796 (15:55369192 G>A), RS1000233727 (15:55358472 T>A,C), RS1000277444 (15:55406617 T>C,G), RS1000383328 (15:55380472 T>C,G), RS1000393831 (15:55385540 A>C), RS1000478191 (15:55380587 G>A), RS1000568519 (15:55370650 G>A,T), RS1000674171 (15:55392501 A>T), RS1000731524 (15:55386562 C>T), RS1000853031 (15:55358063 T>C), RS1000866996 (15:55370505 C>T), RS1000870888 (15:55408029 G>A)
Disease associations
OMIM: gene MIM:611326 | disease phenotypes: MIM:618580
GenCC curated gene-disease
Mondo (1): developmental and epileptic encephalopathy, 80 (MONDO:0032822)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST009391_1101 | Metabolite levels | 6.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0010447 | 3-hydroxyanthranilic acid measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
69 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, increases expression | 6 |
| bisphenol A | affects expression, increases expression | 3 |
| sodium arsenite | decreases expression, increases expression | 3 |
| Air Pollutants | increases expression, decreases expression, increases abundance | 3 |
| Cyclosporine | increases expression | 3 |
| sulforaphane | increases expression | 2 |
| Bortezomib | increases expression | 2 |
| Benzo(a)pyrene | increases expression | 2 |
| Copper | affects binding, increases expression | 2 |
| Silicon Dioxide | decreases expression | 2 |
| Tobacco Smoke Pollution | increases expression | 2 |
| Tretinoin | increases expression | 2 |
| Tunicamycin | increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | decreases phosphorylation | 1 |
| dicrotophos | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| kojic acid | decreases expression | 1 |
| trichostatin A | increases expression | 1 |
| beta-lapachone | increases expression | 1 |
| arsenite | affects expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| perfluorooctanoic acid | increases expression | 1 |
| potassium chromate(VI) | decreases expression | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | affects cotreatment, decreases expression | 1 |
| bicalutamide | increases expression | 1 |
| phenethyl isothiocyanate | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
Cellosaurus cell lines
6 cell lines: 6 embryonic stem cell
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D1IE | H9 AAVS1-TRE3G-NGN2 RETREG3-/- RETREG2-/- RETREG1-/- TEX264-/- CCPG1-/- | Embryonic stem cell | Female |
| CVCL_D1IJ | H9 AAVS1-TRE3G-NGN2 CCPG1-/- | Embryonic stem cell | Female |
| CVCL_D1IK | H9 AAVS1-TRE3G-NGN2 CCPG1-/- Keima-RAMP4 | Embryonic stem cell | Female |
| CVCL_D1IL | H9 AAVS1-TRE3G-NGN2 CCPG1-/- Keima-REEP5 | Embryonic stem cell | Female |
| CVCL_D1IX | H9 AAVS1-TRE3G-NGN2 RETREG3-/- RETREG2-/- RETREG1-/- TEX264-/- CCPG1-/- Keima-RAMP4 | Embryonic stem cell | Female |
| CVCL_D1IY | H9 AAVS1-TRE3G-NGN2 RETREG3-/- RETREG2-/- RETREG1-/- TEX264-/- CCPG1-/- Keima-REEP5 | Embryonic stem cell | Female |
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): developmental and epileptic encephalopathy, 80