BICRAL
gene geneOn this page
Also known as SMARCK2
Summary
BICRAL (BICRA like chromatin remodeling complex associated protein, HGNC:21111) is a protein-coding gene on chromosome 6p21.1, encoding BRD4-interacting chromatin-remodeling complex-associated protein-like (Q6AI39). Component of SWI/SNF chromatin remodeling subcomplex GBAF that carries out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner.
Predicted to be involved in positive regulation of DNA-templated transcription. Part of SWI/SNF complex.
Source: NCBI Gene 23506 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 154 total
- MANE Select transcript:
NM_001393499
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:21111 |
| Approved symbol | BICRAL |
| Name | BICRA like chromatin remodeling complex associated protein |
| Location | 6p21.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | SMARCK2 |
| Ensembl gene | ENSG00000112624 |
| Ensembl biotype | protein_coding |
| OMIM | 618502 |
| Entrez | 23506 |
Gene structure
Transcript identifiers
Ensembl transcripts: 7 — 7 protein_coding
ENST00000314073, ENST00000394168, ENST00000909955, ENST00000924106, ENST00000924108, ENST00000924110, ENST00000954760
RefSeq mRNA: 3 — MANE Select: NM_001393499
NM_001318819, NM_001393499, NM_015349
CCDS: CCDS34451
Canonical transcript exons
ENST00000314073 — 13 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001252281 | 42864659 | 42868556 |
| ENSE00001458870 | 42810306 | 42810401 |
| ENSE00001517658 | 42782052 | 42782101 |
| ENSE00004012570 | 42855856 | 42855917 |
| ENSE00004012571 | 42860262 | 42860356 |
| ENSE00004012572 | 42822796 | 42822844 |
| ENSE00004012573 | 42862510 | 42862612 |
| ENSE00004012574 | 42828493 | 42830172 |
| ENSE00004012575 | 42822018 | 42822063 |
| ENSE00004012576 | 42853638 | 42853738 |
| ENSE00004012577 | 42822935 | 42823003 |
| ENSE00004012578 | 42857091 | 42857236 |
| ENSE00004012579 | 42852092 | 42852197 |
Expression profiles
Bgee: expression breadth ubiquitous, 297 present calls, max score 93.50.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.2145 / max 98.6419, expressed in 1732 samples.
FANTOM5 promoters (7 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 67821 | 2.0729 | 787 |
| 67812 | 2.0670 | 1023 |
| 67819 | 1.2820 | 631 |
| 67818 | 1.1244 | 714 |
| 67814 | 1.0568 | 432 |
| 67820 | 0.4383 | 269 |
| 67813 | 0.1732 | 78 |
Top tissues by expression
299 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cerebellar vermis | UBERON:0004720 | 93.50 | gold quality |
| urethra | UBERON:0000057 | 93.03 | gold quality |
| mammary duct | UBERON:0001765 | 92.31 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 92.31 | gold quality |
| endothelial cell | CL:0000115 | 91.86 | gold quality |
| saphenous vein | UBERON:0007318 | 91.67 | gold quality |
| penis | UBERON:0000989 | 91.20 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 90.86 | gold quality |
| buccal mucosa cell | CL:0002336 | 90.70 | gold quality |
| pylorus | UBERON:0001166 | 90.33 | gold quality |
| synovial joint | UBERON:0002217 | 90.18 | gold quality |
| medial globus pallidus | UBERON:0002477 | 90.05 | gold quality |
| renal medulla | UBERON:0000362 | 89.93 | gold quality |
| nipple | UBERON:0002030 | 89.92 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 89.77 | gold quality |
| pancreatic ductal cell | CL:0002079 | 89.66 | gold quality |
| globus pallidus | UBERON:0001875 | 89.64 | gold quality |
| superior surface of tongue | UBERON:0007371 | 89.59 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 89.33 | gold quality |
| cauda epididymis | UBERON:0004360 | 89.29 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 89.23 | gold quality |
| ventral tegmental area | UBERON:0002691 | 89.04 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 89.02 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 88.89 | gold quality |
| paraflocculus | UBERON:0005351 | 88.77 | gold quality |
| cardia of stomach | UBERON:0001162 | 88.75 | gold quality |
| caput epididymis | UBERON:0004358 | 88.49 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 88.43 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 88.25 | gold quality |
| seminal vesicle | UBERON:0000998 | 88.15 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.11 |
| E-GEOD-109979 | no | 49.73 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
150 targeting BICRAL, 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-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-6758-5P | 100.00 | 66.21 | 1470 |
| HSA-MIR-6856-5P | 100.00 | 65.47 | 1298 |
| HSA-MIR-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-3667-3P | 99.99 | 67.17 | 1636 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-10401-5P | 99.99 | 65.79 | 948 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-3692-3P | 99.98 | 70.27 | 2139 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-96-5P | 99.95 | 72.80 | 2140 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-12133 | 99.92 | 71.82 | 2006 |
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | bicral | ENSDARG00000016089 |
| mus_musculus | Bicral | ENSMUSG00000036568 |
| rattus_norvegicus | Bicral | ENSRNOG00000016229 |
Paralogs (1): BICRA (ENSG00000063169)
Protein
Protein identifiers
BRD4-interacting chromatin-remodeling complex-associated protein-like — Q6AI39 (reviewed: Q6AI39)
Alternative names: Glioma tumor suppressor candidate region gene 1 protein-like
All UniProt accessions (1): Q6AI39
UniProt curated annotations — full annotation on UniProt →
Function. Component of SWI/SNF chromatin remodeling subcomplex GBAF that carries out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner.
Subunit / interactions. Component of the multiprotein chromatin-remodeling complexes SWI/SNF: SWI/SNF-A (BAF), SWI/SNF-B (PBAF) and related complexes. The canonical complex contains a catalytic subunit (either SMARCA4/BRG1/BAF190A or SMARCA2/BRM/BAF190B) and at least SMARCE1, ACTL6A/BAF53, SMARCC1/BAF155, SMARCC2/BAF170, and SMARCB1/SNF5/BAF47. Other subunits specific to each of the complexes may also be present permitting several possible combinations developmentally and tissue specific. Component of the SWI/SNF (GBAF) subcomplex, which includes at least BICRA or BICRAL (mutually exclusive), BRD9, SS18, the core BAF subunits, SMARCA2/BRM, SMARCA4/BRG1/BAF190A, ACTL6A/BAF53, SMARCC1/BAF155, and SMARCD1/BAF60A.
RefSeq proteins (3): NP_001305748, NP_001380428, NP_056164 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR015671 | GSCR1_dom | Domain |
| IPR052438 | Chromatin_remod/trans_coact | Family |
Pfam: PF15249
UniProt features (15 total): region of interest 5, compositionally biased region 5, modified residue 2, sequence conflict 2, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6AI39-F1 | 46.40 | 0.07 |
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 (2): 623, 980
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-9933947 | Formation of the non-canonical BAF (ncBAF) complex |
MSigDB gene sets: 162 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_DN, GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_DN, BROWNE_HCMV_INFECTION_6HR_DN, BROWNE_HCMV_INFECTION_48HR_DN, CATTTCA_MIR203, CCTGTGA_MIR513, GOBP_MAINTENANCE_OF_CELL_NUMBER, GOBP_REGULATION_OF_STEM_CELL_POPULATION_MAINTENANCE, TTGGAGA_MIR5155P_MIR519E, TCCAGAT_MIR5165P, GOBP_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS, GOBP_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS, CTTTGTA_MIR524, GOBP_CHROMATIN_REMODELING, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_DN
GO Biological Process (6): chromatin remodeling (GO:0006338), regulation of transcription by RNA polymerase II (GO:0006357), positive regulation of cell population proliferation (GO:0008284), negative regulation of cell differentiation (GO:0045596), positive regulation of DNA-templated transcription (GO:0045893), positive regulation of stem cell population maintenance (GO:1902459)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (4): chromatin (GO:0000785), nucleoplasm (GO:0005654), SWI/SNF complex (GO:0016514), GBAF complex (GO:0140288)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| SWI/SNF chromatin remodelers | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| regulation of DNA-templated transcription | 2 |
| cellular anatomical structure | 2 |
| SWI/SNF superfamily-type complex | 2 |
| chromatin organization | 1 |
| transcription by RNA polymerase II | 1 |
| cell population proliferation | 1 |
| regulation of cell population proliferation | 1 |
| positive regulation of cellular process | 1 |
| cell differentiation | 1 |
| regulation of cell differentiation | 1 |
| negative regulation of cellular process | 1 |
| negative regulation of developmental process | 1 |
| DNA-templated transcription | 1 |
| positive regulation of RNA biosynthetic process | 1 |
| stem cell population maintenance | 1 |
| positive regulation of developmental process | 1 |
| positive regulation of multicellular organismal process | 1 |
| regulation of stem cell population maintenance | 1 |
| binding | 1 |
| chromosome | 1 |
| nuclear lumen | 1 |
Protein interactions and networks
STRING
1040 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| BICRAL | BRD9 | Q9H8M2 | 983 |
| BICRAL | BICRA | Q9NZM4 | 754 |
| BICRAL | SMARCD1 | Q96GM5 | 750 |
| BICRAL | DPF1 | Q92782 | 744 |
| BICRAL | SMARCC1 | Q92922 | 740 |
| BICRAL | BCL7C | Q8WUZ0 | 670 |
| BICRAL | BCL7B | Q9BQE9 | 666 |
| BICRAL | SMARCA4 | P51532 | 665 |
| BICRAL | ACTL6A | O96019 | 654 |
| BICRAL | BRD7 | Q9NPI1 | 632 |
| BICRAL | PHF10 | Q8WUB8 | 614 |
| BICRAL | ARID2 | Q68CP9 | 607 |
| BICRAL | DPF2 | Q92785 | 604 |
| BICRAL | PBRM1 | Q86U86 | 602 |
| BICRAL | SMARCE1 | Q969G3 | 553 |
IntAct
82 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SMARCD1 | ARID1A | psi-mi:“MI:0914”(association) | 0.790 |
| BCL7A | ARID1A | psi-mi:“MI:0914”(association) | 0.640 |
| BCL7C | ARID1A | psi-mi:“MI:0914”(association) | 0.640 |
| FNDC3B | BICRAL | psi-mi:“MI:0915”(physical association) | 0.560 |
| BICRAL | ARHGDIG | psi-mi:“MI:0915”(physical association) | 0.560 |
| SS18L1 | BICRAL | psi-mi:“MI:0915”(physical association) | 0.560 |
| PRR20D | BICRAL | psi-mi:“MI:0915”(physical association) | 0.560 |
| ATXN1 | BICRAL | psi-mi:“MI:0915”(physical association) | 0.560 |
| QRICH1 | BICRAL | psi-mi:“MI:0915”(physical association) | 0.560 |
| TRIM23 | BICRAL | psi-mi:“MI:0915”(physical association) | 0.560 |
| HSPB2 | BICRAL | psi-mi:“MI:0915”(physical association) | 0.560 |
| BICRAL | USHBP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BICRAL | DTX2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NRF1 | BICRAL | psi-mi:“MI:0915”(physical association) | 0.560 |
| BICRAL | BANP | psi-mi:“MI:0915”(physical association) | 0.560 |
| HGS | BICRAL | psi-mi:“MI:0915”(physical association) | 0.560 |
| BFSP2 | BICRAL | psi-mi:“MI:0915”(physical association) | 0.560 |
| BICRAL | NGLY1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BICRAL | EXOC8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SS18L2 | ARID1A | psi-mi:“MI:2364”(proximity) | 0.480 |
| SS18L2 | ARID1A | psi-mi:“MI:0914”(association) | 0.480 |
| CACHD1 | BICRAL | psi-mi:“MI:0915”(physical association) | 0.370 |
BioGRID (55): GLTSCR1L (Affinity Capture-MS), GLTSCR1L (Affinity Capture-MS), GLTSCR1L (Affinity Capture-MS), GLTSCR1L (Affinity Capture-MS), GLTSCR1L (Affinity Capture-MS), GLTSCR1L (Affinity Capture-MS), GLTSCR1L (Affinity Capture-RNA), SMARCA4 (Affinity Capture-Western), BRD9 (Affinity Capture-Western), ACTL6A (Affinity Capture-Western), GLTSCR1L (Affinity Capture-Western), GLTSCR1L (Two-hybrid), GLTSCR1L (Two-hybrid), GLTSCR1L (Two-hybrid), TRIM23 (Two-hybrid)
ESM2 similar proteins: A0A0R4IBL7, A3RK74, A4L7N3, A5D7F6, B2RWS6, B5DE09, E1BPQ1, G3V7R4, O00512, O43524, P11420, P45481, P78364, Q09472, Q12778, Q13227, Q14686, Q15596, Q17BA4, Q61026, Q64028, Q66JJ0, Q67FY2, Q6AI39, Q6JHU9, Q6T264, Q7ZUK7, Q810W5, Q86UU0, Q8CHH5, Q8CHP6, Q8IXK0, Q8IZL2, Q921N8, Q924H2, Q92585, Q92793, Q961D9, Q96JK9, Q96RN5
Diamond homologs: F8VPZ9, Q6AI39, Q8CHH5, Q9NZM4
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 35 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 the canonical BAF (cBAF) complex | 6 | 190.3× | 8e-12 |
| Formation of the non-canonical BAF (ncBAF) complex | 5 | 167.9× | 1e-09 |
| Formation of neuronal progenitor and neuronal BAF (npBAF and nBAF) | 7 | 159.9× | 5e-13 |
| Formation of the embryonic stem cell BAF (esBAF) complex | 5 | 150.3× | 2e-09 |
| Regulation of MITF-M-dependent genes involved in pigmentation | 7 | 93.0× | 1e-11 |
| Regulation of endogenous retroelements | 5 | 92.1× | 2e-08 |
| MITF-M-dependent gene expression | 5 | 45.3× | 5e-07 |
| Regulation of endogenous retroelements by Piwi-interacting RNAs (piRNAs) | 7 | 41.2× | 2e-09 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| regulation of G0 to G1 transition | 6 | 168.5× | 1e-10 |
| regulation of nucleotide-excision repair | 6 | 150.5× | 2e-10 |
| regulation of mitotic metaphase/anaphase transition | 6 | 123.9× | 4e-10 |
| positive regulation of double-strand break repair | 6 | 86.0× | 3e-09 |
| regulation of G1/S transition of mitotic cell cycle | 6 | 76.6× | 5e-09 |
| chromatin remodeling | 6 | 18.2× | 2e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
154 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 137 |
| Likely benign | 4 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2311 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:42822012:TTATA:T | acceptor_loss | 1.0000 |
| 6:42822013:TATAG:T | acceptor_loss | 1.0000 |
| 6:42822014:ATAG:A | acceptor_loss | 1.0000 |
| 6:42822015:T:G | acceptor_gain | 1.0000 |
| 6:42822015:TAGT:T | acceptor_loss | 1.0000 |
| 6:42822016:A:AG | acceptor_gain | 1.0000 |
| 6:42822016:AG:A | acceptor_loss | 1.0000 |
| 6:42822017:G:GT | acceptor_gain | 1.0000 |
| 6:42822017:GT:G | acceptor_gain | 1.0000 |
| 6:42822017:GTT:G | acceptor_gain | 1.0000 |
| 6:42822062:GG:G | donor_gain | 1.0000 |
| 6:42822063:GG:G | donor_gain | 1.0000 |
| 6:42822064:G:GA | donor_loss | 1.0000 |
| 6:42822064:G:GG | donor_gain | 1.0000 |
| 6:42822065:TAAGA:T | donor_loss | 1.0000 |
| 6:42822790:TTCTA:T | acceptor_loss | 1.0000 |
| 6:42822792:CTA:C | acceptor_loss | 1.0000 |
| 6:42822794:A:AC | acceptor_loss | 1.0000 |
| 6:42822794:A:AG | acceptor_gain | 1.0000 |
| 6:42822795:G:GG | acceptor_gain | 1.0000 |
| 6:42822795:GA:G | acceptor_gain | 1.0000 |
| 6:42822840:AATCT:A | donor_gain | 1.0000 |
| 6:42822841:ATCT:A | donor_gain | 1.0000 |
| 6:42822843:CT:C | donor_gain | 1.0000 |
| 6:42822843:CTG:C | donor_loss | 1.0000 |
| 6:42822845:G:GG | donor_gain | 1.0000 |
| 6:42822845:GTAA:G | donor_loss | 1.0000 |
| 6:42822846:TAA:T | donor_loss | 1.0000 |
| 6:42822847:AA:A | donor_loss | 1.0000 |
| 6:42822933:A:AG | acceptor_gain | 1.0000 |
AlphaMissense
7120 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:42828650:T:A | L106H | 1.000 |
| 6:42828650:T:C | L106P | 1.000 |
| 6:42828662:T:C | L110S | 1.000 |
| 6:42828670:G:C | A113P | 1.000 |
| 6:42860319:T:C | L771P | 1.000 |
| 6:42860337:T:C | L777P | 1.000 |
| 6:42860340:T:C | L778P | 1.000 |
| 6:42828658:T:C | S109P | 0.999 |
| 6:42828659:C:T | S109F | 0.999 |
| 6:42828677:T:A | I115N | 0.999 |
| 6:42828677:T:C | I115T | 0.999 |
| 6:42828677:T:G | I115S | 0.999 |
| 6:42828692:T:C | L120S | 0.999 |
| 6:42857180:T:C | L733P | 0.999 |
| 6:42860273:T:C | F756L | 0.999 |
| 6:42860275:T:A | F756L | 0.999 |
| 6:42860275:T:G | F756L | 0.999 |
| 6:42860285:G:C | A760P | 0.999 |
| 6:42860286:C:A | A760D | 0.999 |
| 6:42860295:T:C | L763P | 0.999 |
| 6:42860298:T:C | L764P | 0.999 |
| 6:42860327:T:C | Y774H | 0.999 |
| 6:42860327:T:G | Y774D | 0.999 |
| 6:42860351:G:C | A782P | 0.999 |
| 6:42862548:G:C | R796S | 0.999 |
| 6:42862548:G:T | R796S | 0.999 |
| 6:42862553:T:C | F798S | 0.999 |
| 6:42865420:G:C | A1072P | 0.999 |
| 6:42865436:T:C | L1077P | 0.999 |
| 6:42822810:T:C | L19S | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000032114 (6:42761050 A>G,T), RS1000038181 (6:42855127 C>T), RS1000050543 (6:42769688 A>C,G), RS1000087928 (6:42820826 G>A), RS1000151262 (6:42810535 G>T), RS1000151475 (6:42767483 G>T), RS1000165223 (6:42852661 C>A), RS1000173734 (6:42765864 G>A), RS1000180130 (6:42816955 A>G), RS1000184877 (6:42785231 G>C), RS1000218466 (6:42809968 G>A), RS1000222672 (6:42836171 T>C), RS1000252810 (6:42791185 C>G), RS1000308556 (6:42861663 C>T), RS1000335663 (6:42779966 C>T)
Disease associations
OMIM: gene MIM:618502 | disease phenotypes:
GenCC curated gene-disease
Mondo (2): prostate cancer (MONDO:0008315), autism spectrum disorder (MONDO:0005258)
Orphanet (2): Familial prostate cancer (Orphanet:1331), NON RARE IN EUROPE: Autism (Orphanet:106)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST010002_324 | Refractive error | 2.000000e-12 |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D011471 | Prostatic Neoplasms | C04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
36 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression | 5 |
| Benzo(a)pyrene | affects methylation, decreases expression, increases mutagenesis | 4 |
| Arsenic | increases abundance, increases methylation, decreases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| bisphenol F | affects cotreatment, increases expression | 1 |
| dicrotophos | increases expression | 1 |
| bisphenol A | affects cotreatment, increases methylation | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| sodium arsenite | decreases expression, increases abundance | 1 |
| butyraldehyde | decreases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| ferrous chloride | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| dorsomorphin | decreases expression, affects cotreatment | 1 |
| Resveratrol | affects cotreatment, decreases expression, increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Leflunomide | increases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Atrazine | decreases expression | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Carbamazepine | affects expression | 1 |
| Cisplatin | decreases expression | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Methapyrilene | increases methylation | 1 |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00029224 | PHASE4 | COMPLETED | Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions |
| NCT00035997 | PHASE4 | COMPLETED | Open-label Trial on the Effect of I.V. Zoledronic Acid 4 mg on Bone Density in Hormone Sensitive Prostate Cancer Patients With Bone Metastasis |
| NCT00063609 | PHASE4 | COMPLETED | The Effect of Zoledronic Acid on Bone Loss in Prostate Cancer Patients Undergoing Androgen Deprivation Therapy |
| NCT00103623 | PHASE4 | SUSPENDED | The Plenaxis® Experience Study |
| NCT00106392 | PHASE4 | COMPLETED | A Safety and Efficacy Study of Prograf in the Prevention of Erectile Dysfunction After Radical Prostatectomy |
| NCT00185029 | PHASE4 | UNKNOWN | MR-Lymphography and Lymph Node Staging in Prostate Cancer |
| NCT00199485 | PHASE4 | COMPLETED | Angelica Sinensis for the Treatment of Hot Flashes in Men Undergoing LHRH Therapy for Prostate Cancer |
| NCT00219219 | PHASE4 | COMPLETED | Zoledronic Acid in the Prevention of Skeletal-related Events in Hormone Refractory and Hormone-sensitive Prostate Cancer Patients With Bone Metastases |
| NCT00219271 | PHASE4 | COMPLETED | Effect Of Zoledronic Acid On Circulating And Bone Marrow-Residing Prostate Cancer Cells In Patients With Clinically Localized Prostate Cancer |
| NCT00237146 | PHASE4 | COMPLETED | Study to Evaluate Zoledronic Acid on Quality of Life and Skeletal-related Events as Adjuvant Treatment in Patients With Hormone-naïve Prostate Cancer and Bone Metastasis Who Have Undergone Orchiectomy |
| NCT00242554 | PHASE4 | COMPLETED | Open-label Phase IV Clinical Trial to Evaluate the Safety and Tolerability of Zoledronic Acid in Patients With Prostate Cancer and Bone Metastases |
| NCT00280098 | PHASE4 | COMPLETED | Docetaxel in the Treatment of Hormone Refractory Prostate Cancer |
| NCT00293696 | PHASE4 | COMPLETED | Casodex/Zoladex Biomarkers in Localised Prostate Cancer |
| NCT00334139 | PHASE4 | COMPLETED | Effect of Zoledronic Acid on Bone Metabolism in Patients With Bone Metastasis and Prostate or Breast Cancer |
| NCT00375765 | PHASE4 | COMPLETED | Effects On Dihydrotestosterone Regulated Gene Expression In Benign Prostatic Hyperplasia Or Prostate Cancer |
| NCT00391690 | PHASE4 | COMPLETED | Evaluation of Bone Markers as Diagnostic Tools for Early Detection of Bone Metastases in Patients With High Risk Prostate Cancer |
| NCT00422708 | PHASE4 | COMPLETED | Local Anesthesia for Prostate Biopsy |
| NCT00526331 | PHASE4 | COMPLETED | Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy |
| NCT00590213 | PHASE4 | COMPLETED | Compare the Value of Prophylactic Versus Therapeutic Breast Radiotherapy in CASODEX |
| NCT00629330 | PHASE4 | TERMINATED | Dissemination of Prostate Cancer Screening to PCP’s in African American Communities |
| NCT00771966 | PHASE4 | COMPLETED | Radical Prostatectomy and Perioperative Fluid Therapy |
| NCT00805701 | PHASE4 | COMPLETED | Study Assessing The Efficacy And Safety Of Avodart (Dutasteride) At Improving Urinary Symptoms In Men With Prostate Cancer Who Are Undergoing Seed Implantation |
| NCT00859027 | PHASE4 | COMPLETED | Effect Of Risedronate On Bone Mass In Older Men Receiving Neoadjuvant Therapy For Prostate Cancer |
| NCT00906269 | PHASE4 | UNKNOWN | Can Hyperbaric Oxygen Improve Erectile Function Following Surgery for Prostate Cancer |
| NCT00953277 | PHASE4 | COMPLETED | Study of Nerve Reconstruction Using AVANCE in Subjects Who Undergo Robotic Assisted Prostatectomy for Treatment of Prostate Cancer |
| NCT00982800 | PHASE4 | COMPLETED | Does Postoperative Gabapentin Reduce Pain, Opioid Consumption and Anxiety and Have a Positive Effect on Health Related Quality of Life After Radical Prostatectomy? |
| NCT01083199 | PHASE4 | COMPLETED | Global Performance Evaluation of the AMS CONTINUUM™ Device |
| NCT01136226 | PHASE4 | COMPLETED | Evaluate Recovery of Testosterone for Patients Using Eligard |
| NCT01161563 | PHASE4 | COMPLETED | Randomized Crossover Trial to Assess the Tolerability of Gonadotropin Releasing Hormone (GnRH) Analogue Administration |
| NCT01230905 | PHASE4 | COMPLETED | Study to Monitor the Effects of Androgen Suppression Treatment on the Heart |
| NCT01296672 | PHASE4 | COMPLETED | 3 Month Finasteride Challenge Test Can Significantly Improve the Performance of Screening for Prostate Cancer |
| NCT01365143 | PHASE4 | TERMINATED | Prospective Randomized Trial Comparing Robotic Versus Open Radical Prostatectomy |
| NCT01379742 | PHASE4 | UNKNOWN | Comparison of Between ThinSeed™ and OncoSeed™ for Permanent Prostate Brachytherapy |
| NCT01486563 | PHASE4 | COMPLETED | Hydroxyethyl Starch and Renal Function After Radical Prostatectomy |
| NCT01511874 | PHASE4 | COMPLETED | Efficacy and Safety Study of ELIGARD 22.5mg With Prostate Cancer |
| NCT01512472 | PHASE4 | TERMINATED | Firmagon (Degarelix) Intermittent Therapy |
| NCT01547416 | PHASE4 | COMPLETED | The Effect of Combined General/Epidural Anesthesia Versus General Anesthesia on Diaphragmatic Function |
| NCT01571544 | PHASE4 | COMPLETED | The Use of Thermal Suits as Preventing Hypothermia During Surgery |
| NCT01581749 | PHASE4 | UNKNOWN | Evaluation of Truebeam for Low-Intermediate Risk Prostate Cancer |
| NCT01649635 | PHASE4 | COMPLETED | Study of Cabazitaxel Combined With Prednisone and Prophylaxis of Neutropenia Complications in the Treatment of Patients With Metastatic Castration-resistant Prostate Cancer |
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.