SAFB2
gene geneOn this page
Also known as KIAA0138
Summary
SAFB2 (scaffold attachment factor B2, HGNC:21605) is a protein-coding gene on chromosome 19p13.3, encoding Scaffold attachment factor B2 (Q14151). Binds to scaffold/matrix attachment region (S/MAR) DNA.
The protein encoded by this gene, along with its paralog (scaffold attachment factor B1), is a repressor of estrogen receptor alpha. The encoded protein binds scaffold/matrix attachment region (S/MAR) DNA and is involved in cell cycle regulation, apoptosis, differentiation, the stress response, and regulation of immune genes.
Source: NCBI Gene 9667 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 179 total
- MANE Select transcript:
NM_014649
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:21605 |
| Approved symbol | SAFB2 |
| Name | scaffold attachment factor B2 |
| Location | 19p13.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA0138 |
| Ensembl gene | ENSG00000130254 |
| Ensembl biotype | protein_coding |
| OMIM | 608066 |
| Entrez | 9667 |
Gene structure
Transcript identifiers
Ensembl transcripts: 15 — 5 protein_coding, 4 retained_intron, 3 protein_coding_CDS_not_defined, 3 nonsense_mediated_decay
ENST00000252542, ENST00000585449, ENST00000587802, ENST00000589925, ENST00000590000, ENST00000590262, ENST00000591101, ENST00000591120, ENST00000591123, ENST00000591310, ENST00000592599, ENST00000850599, ENST00000850600, ENST00000912090, ENST00000912091
RefSeq mRNA: 1 — MANE Select: NM_014649
NM_014649
CCDS: CCDS32879
Canonical transcript exons
ENST00000252542 — 21 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001611192 | 5598793 | 5598884 |
| ENSE00001677871 | 5595361 | 5595497 |
| ENSE00001698179 | 5611120 | 5611630 |
| ENSE00001708115 | 5593891 | 5594178 |
| ENSE00001751671 | 5612540 | 5612567 |
| ENSE00001762209 | 5616132 | 5616335 |
| ENSE00002914462 | 5622530 | 5622776 |
| ENSE00003458607 | 5591748 | 5591793 |
| ENSE00003486358 | 5604787 | 5604936 |
| ENSE00003568249 | 5600130 | 5600260 |
| ENSE00003571373 | 5587701 | 5587767 |
| ENSE00003594754 | 5613465 | 5613527 |
| ENSE00003616267 | 5592747 | 5592887 |
| ENSE00003640527 | 5616422 | 5616486 |
| ENSE00003645600 | 5609995 | 5610095 |
| ENSE00003662102 | 5587868 | 5587980 |
| ENSE00003670599 | 5621309 | 5621396 |
| ENSE00003670721 | 5610639 | 5610688 |
| ENSE00003676030 | 5604583 | 5604695 |
| ENSE00003693059 | 5590278 | 5590408 |
| ENSE00004282295 | 5586999 | 5587399 |
Expression profiles
Bgee: expression breadth ubiquitous, 297 present calls, max score 98.74.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 66.4845 / max 2231.2215, expressed in 1825 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 178549 | 66.4845 | 1825 |
Top tissues by expression
299 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right hemisphere of cerebellum | UBERON:0014890 | 98.74 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 98.58 | gold quality |
| adenohypophysis | UBERON:0002196 | 98.55 | gold quality |
| cerebellar cortex | UBERON:0002129 | 98.53 | gold quality |
| right uterine tube | UBERON:0001302 | 98.49 | gold quality |
| left ovary | UBERON:0002119 | 98.24 | gold quality |
| pituitary gland | UBERON:0000007 | 98.23 | gold quality |
| right ovary | UBERON:0002118 | 98.21 | gold quality |
| sural nerve | UBERON:0015488 | 98.20 | gold quality |
| endocervix | UBERON:0000458 | 97.99 | gold quality |
| cerebellum | UBERON:0002037 | 97.77 | gold quality |
| metanephros cortex | UBERON:0010533 | 97.66 | gold quality |
| body of uterus | UBERON:0009853 | 97.62 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 97.50 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 97.47 | gold quality |
| nerve | UBERON:0001021 | 97.45 | gold quality |
| tibial nerve | UBERON:0001323 | 97.45 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 97.35 | gold quality |
| right frontal lobe | UBERON:0002810 | 97.26 | gold quality |
| left testis | UBERON:0004533 | 97.12 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 97.04 | gold quality |
| right testis | UBERON:0004534 | 96.95 | gold quality |
| thyroid gland | UBERON:0002046 | 96.93 | gold quality |
| ectocervix | UBERON:0012249 | 96.90 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 96.89 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 96.86 | gold quality |
| lower esophagus | UBERON:0013473 | 96.85 | gold quality |
| apex of heart | UBERON:0002098 | 96.75 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 96.73 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 96.63 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
15 targeting SAFB2, 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-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-23A-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23B-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23C | 99.95 | 73.92 | 3192 |
| HSA-MIR-1-3P | 99.93 | 72.35 | 1914 |
| HSA-MIR-206 | 99.93 | 72.50 | 1893 |
| HSA-MIR-613 | 99.91 | 71.50 | 1710 |
| HSA-MIR-548AZ-5P | 99.83 | 69.94 | 3230 |
| HSA-MIR-548T-5P | 99.83 | 69.91 | 3220 |
| HSA-MIR-4694-3P | 99.79 | 69.53 | 2640 |
| HSA-MIR-4729 | 99.69 | 72.18 | 4233 |
| HSA-MIR-5197-5P | 99.64 | 69.08 | 1494 |
| HSA-MIR-7150 | 99.62 | 66.80 | 1322 |
| HSA-MIR-1207-5P | 99.49 | 69.11 | 2983 |
Literature-anchored findings (GeneRIF, showing 9)
- REVIEW: possibility that SAFB1 and SAFB2 are novel breast tumor suppressor genes, and how they might function in this role, are discussed (PMID:14587024)
- SAFB2 is not likely to be causative of the hereditary breast cancer syndrome in west Swedish breast cancer families (PMID:19077293)
- This study shows that low SAFB protein levels predict poor prognosis of breast cancer patients, suggesting critical functions of SAFB1 and SAFB2 in breast cancer cells. (PMID:19137425)
- The enzymatic activity of SR protein kinases 1 and 1a is negatively affected by interaction with scaffold attachment factors B1 and 2. (PMID:19674106)
- Study confirms the primary role of SAFB1/SAFB2 as corepressors and also uncovers a previously unknown role for SAFB1 in the regulation of immune genes and in estrogen-mediated repression of genes. (PMID:19901029)
- Results indicate that SAFB1 and SAFB2 are crucial repressors for ERalpha dynamics in association with the nuclear matrix and that their synergistic regulation of ERalpha mobility is sufficient for inhibiting ERalpha function. (PMID:22566185)
- Single depletion of either SAFB1 or SAFB2 leads to an increase in expression of the other SAFB protein. (PMID:26273616)
- SAFB2 Enables the Processing of Suboptimal Stem-Loop Structures in Clustered Primary miRNA Transcripts. (PMID:32502422)
- SAFB2 Inhibits the Progression of Breast Cancer by Suppressing the Wnt/beta-Catenin Signaling Pathway via NFAT5. (PMID:36652182)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Safb2 | ENSMUSG00000042625 |
| rattus_norvegicus | Safb2 | ENSRNOG00000049511 |
| drosophila_melanogaster | Saf-B | FBGN0039229 |
| caenorhabditis_elegans | phm-2 | WBGENE00009314 |
Paralogs (2): SLTM (ENSG00000137776), SAFB (ENSG00000160633)
Protein
Protein identifiers
Scaffold attachment factor B2 — Q14151 (reviewed: Q14151)
All UniProt accessions (3): Q14151, K7EQU4, K7ERX3
UniProt curated annotations — full annotation on UniProt →
Function. Binds to scaffold/matrix attachment region (S/MAR) DNA. Can function as an estrogen receptor corepressor and can also inhibit cell proliferation.
Subunit / interactions. Interacts with SAFB/SAFB1 and SCAM1. Interacts with isoform 2 SRPK1 and inhibits its activity.
Subcellular location. Cytoplasm. Nucleus.
Tissue specificity. Expressed at high levels in the CNS and at low levels in the liver. Expressed in a wide number of breast cancer cell lines.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q14151-1 | 1 | yes |
| Q14151-2 | 2 |
RefSeq proteins (1): NP_055464* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000504 | RRM_dom | Domain |
| IPR003034 | SAP_dom | Domain |
| IPR012677 | Nucleotide-bd_a/b_plait_sf | Homologous_superfamily |
| IPR034781 | SAFB1_2_RBD | Domain |
| IPR035979 | RBD_domain_sf | Homologous_superfamily |
| IPR036361 | SAP_dom_sf | Homologous_superfamily |
| IPR051738 | SAF_Modulators | Family |
Pfam: PF00076, PF02037
UniProt features (66 total): cross-link 22, compositionally biased region 16, modified residue 14, region of interest 6, domain 2, splice variant 2, initiator methionine 1, chain 1, short sequence motif 1, sequence conflict 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9RMV | X-RAY DIFFRACTION | 1.7 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q14151-F1 | 55.34 | 0.19 |
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 (36): 2, 54, 109, 158, 201, 207, 507, 513, 616, 787, 832, 886, 897, 903, 65, 65, 94, 188, 199, 230 …
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 119 (showing top):
GSE45365_NK_CELL_VS_CD8A_DC_UP, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_CELLULAR_RESPONSE_TO_LIPID, GOBP_REGULATION_OF_INTRACELLULAR_STEROID_HORMONE_RECEPTOR_SIGNALING_PATHWAY, GOBP_REGULATION_OF_ANDROGEN_RECEPTOR_SIGNALING_PATHWAY, MARTINEZ_RB1_TARGETS_UP, GOBP_HORMONE_MEDIATED_SIGNALING_PATHWAY, ONKEN_UVEAL_MELANOMA_UP, GOBP_CELLULAR_RESPONSE_TO_HORMONE_STIMULUS, GOBP_REPRODUCTIVE_SYSTEM_DEVELOPMENT, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM4, GOBP_RESPONSE_TO_STEROID_HORMONE, GOBP_RESPONSE_TO_HORMONE, GOBP_RESPONSE_TO_LIPID, GOBP_CELLULAR_RESPONSE_TO_STEROID_HORMONE_STIMULUS
GO Biological Process (4): regulation of transcription by RNA polymerase II (GO:0006357), regulation of mRNA processing (GO:0050684), Sertoli cell differentiation (GO:0060008), regulation of androgen receptor signaling pathway (GO:0060765)
GO Molecular Function (6): RNA binding (GO:0003723), identical protein binding (GO:0042802), sequence-specific DNA binding (GO:0043565), nucleic acid binding (GO:0003676), DNA binding (GO:0003677), protein binding (GO:0005515)
GO Cellular Component (5): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), nuclear body (GO:0016604), extracellular exosome (GO:0070062)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| nucleic acid binding | 2 |
| binding | 2 |
| cellular anatomical structure | 2 |
| regulation of DNA-templated transcription | 1 |
| transcription by RNA polymerase II | 1 |
| mRNA processing | 1 |
| regulation of mRNA metabolic process | 1 |
| developmental process involved in reproduction | 1 |
| male gonad development | 1 |
| epithelial cell differentiation | 1 |
| androgen receptor signaling pathway | 1 |
| regulation of intracellular steroid hormone receptor signaling pathway | 1 |
| protein binding | 1 |
| DNA binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| intracellular anatomical structure | 1 |
| nucleoplasm | 1 |
| intracellular membraneless organelle | 1 |
| extracellular vesicle | 1 |
Protein interactions and networks
STRING
1028 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SAFB2 | SORBS3 | O60504 | 844 |
| SAFB2 | ESR1 | P03372 | 827 |
| SAFB2 | ZNRF4 | Q8WWF5 | 589 |
| SAFB2 | HNRNPU | Q00839 | 574 |
| SAFB2 | SRPK1 | Q96SB4 | 567 |
| SAFB2 | DROSHA | Q9NRR4 | 475 |
| SAFB2 | ZNF622 | Q969S3 | 445 |
| SAFB2 | ZNF358 | Q9NW07 | 422 |
| SAFB2 | LBR | Q14739 | 417 |
| SAFB2 | ZNF823 | P16415 | 411 |
| SAFB2 | SPEN | Q96T58 | 408 |
| SAFB2 | KHDRBS2 | Q5VWX1 | 380 |
| SAFB2 | SREK1 | Q8WXA9 | 372 |
| SAFB2 | TINCR | A0A2R8Y7D0 | 367 |
| SAFB2 | CELF2 | O95319 | 362 |
IntAct
188 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RB1CC1 | ATG13 | psi-mi:“MI:0914”(association) | 0.820 |
| NCBP2 | KPNA3 | psi-mi:“MI:0914”(association) | 0.640 |
| FUS | SAFB2 | psi-mi:“MI:0915”(physical association) | 0.550 |
| SAFB2 | ESR1 | psi-mi:“MI:0407”(direct interaction) | 0.540 |
| ESR1 | SAFB2 | psi-mi:“MI:0915”(physical association) | 0.540 |
| SAFB2 | SORBS3 | psi-mi:“MI:0915”(physical association) | 0.540 |
| SAFB2 | SORBS3 | psi-mi:“MI:0403”(colocalization) | 0.540 |
| RPS6 | IPO7 | psi-mi:“MI:0914”(association) | 0.530 |
| SAFB2 | DHPS | psi-mi:“MI:0914”(association) | 0.530 |
| NCBP3 | SAP18 | psi-mi:“MI:0914”(association) | 0.530 |
| SYNGAP1 | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.530 |
| SYNGAP1 | SEC16A | psi-mi:“MI:0914”(association) | 0.530 |
| SUPT5H | POLR2D | psi-mi:“MI:0914”(association) | 0.530 |
| ELAVL2 | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.530 |
| ZFP41 | LRP4 | psi-mi:“MI:0914”(association) | 0.530 |
| CAPN13 | SFSWAP | psi-mi:“MI:0914”(association) | 0.530 |
| EZH1 | EPOP | psi-mi:“MI:0914”(association) | 0.530 |
| HNRNPC | CASC3 | psi-mi:“MI:0914”(association) | 0.530 |
| ELAVL2 | CASC3 | psi-mi:“MI:0914”(association) | 0.530 |
| PNMA2 | CCDC85C | psi-mi:“MI:0914”(association) | 0.530 |
| SRSF3 | CASC3 | psi-mi:“MI:0914”(association) | 0.530 |
| LRRK2 | DFFA | psi-mi:“MI:0914”(association) | 0.530 |
| SAFB2 | SAFB2 | psi-mi:“MI:0915”(physical association) | 0.520 |
| SAFB | SAFB2 | psi-mi:“MI:0915”(physical association) | 0.510 |
| SAFB2 | SAFB | psi-mi:“MI:0915”(physical association) | 0.510 |
| GABARAPL1 | SAFB2 | psi-mi:“MI:0915”(physical association) | 0.500 |
BioGRID (278): SAFB2 (Affinity Capture-RNA), SAFB2 (Affinity Capture-MS), SAFB2 (Affinity Capture-MS), SAFB2 (Affinity Capture-MS), SAFB2 (Affinity Capture-MS), SAFB2 (Affinity Capture-MS), SAFB2 (Affinity Capture-MS), TP53 (Affinity Capture-Western), SAFB2 (Affinity Capture-MS), SAFB2 (Affinity Capture-MS), SAFB2 (Affinity Capture-MS), SAFB2 (Affinity Capture-MS), HNRNPUL1 (Co-fractionation), SAFB (Co-fractionation), SAFB2 (Co-fractionation)
ESM2 similar proteins: A0A0R4IZ84, A2CEZ5, A2RV70, D3YXK2, F1MJM0, O15047, O43823, O60293, O88291, O88453, P41073, P43243, P43244, P61129, P61406, P78332, P97868, Q08D57, Q14151, Q15424, Q1LY77, Q28F29, Q2HJG4, Q3TLH4, Q498L2, Q5BKZ1, Q5F3P8, Q5R452, Q5RAK6, Q5RCA4, Q5U236, Q5VK71, Q5ZJ02, Q63014, Q66HC1, Q66J90, Q7YZA2, Q7Z6E9, Q80YR5, Q86US8
Diamond homologs: A0A0D1C8Z4, A1A5R1, A2A5N3, A3LXL0, A4F5G6, A5A6M3, A5DW14, A6NFN3, A6QPR6, F1QB54, F4HT49, O04319, O13845, O35698, O43251, O93235, P0CB38, P11940, P19682, P19683, P19684, P20965, P28644, P29341, P38159, P42731, P49313, P49314, P60824, P60825, P60826, P61286, P62995, P62996, P62997, Q04836, Q08935, Q08937, Q09511, Q0VD23
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 228 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 |
|---|---|---|---|
| Transport of Mature Transcript to Cytoplasm | 7 | 17.0× | 1e-05 |
| mRNA 3’-end processing | 12 | 15.1× | 2e-09 |
| mRNA Polyadenylation | 25 | 14.0× | 2e-19 |
| mRNA Splicing | 20 | 14.0× | 1e-15 |
| Processing of Capped Intron-Containing Pre-mRNA | 25 | 13.1× | 8e-19 |
| RNA Polymerase II Transcription Termination | 9 | 12.6× | 3e-06 |
| Transport of Mature mRNA derived from an Intron-Containing Transcript | 12 | 11.6× | 4e-08 |
| mRNA Splicing - Minor Pathway | 8 | 11.4× | 3e-05 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| negative regulation of mRNA splicing, via spliceosome | 9 | 33.3× | 1e-09 |
| regulation of mRNA splicing, via spliceosome | 7 | 30.0× | 3e-07 |
| alternative mRNA splicing, via spliceosome | 6 | 19.5× | 5e-05 |
| RNA splicing, via transesterification reactions | 6 | 18.1× | 8e-05 |
| activation of innate immune response | 7 | 16.3× | 3e-05 |
| positive regulation of transcription by RNA polymerase I | 5 | 15.7× | 1e-03 |
| mitophagy | 10 | 15.4× | 2e-07 |
| spliceosomal complex assembly | 5 | 14.5× | 1e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
179 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 140 |
| Likely benign | 5 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3672 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:5587979:CCCTT:C | acceptor_gain | 1.0000 |
| 19:5587980:CCTT:C | acceptor_gain | 1.0000 |
| 19:5587983:T:C | acceptor_gain | 1.0000 |
| 19:5587983:T:TC | acceptor_gain | 1.0000 |
| 19:5590311:AG:A | donor_gain | 1.0000 |
| 19:5590311:AGCCT:A | donor_gain | 1.0000 |
| 19:5590312:G:C | donor_gain | 1.0000 |
| 19:5590404:TAGTG:T | acceptor_gain | 1.0000 |
| 19:5590405:AGTG:A | acceptor_gain | 1.0000 |
| 19:5590406:GTG:G | acceptor_gain | 1.0000 |
| 19:5590407:TG:T | acceptor_gain | 1.0000 |
| 19:5590407:TGCTG:T | acceptor_loss | 1.0000 |
| 19:5590408:GCTGG:G | acceptor_loss | 1.0000 |
| 19:5590409:C:CC | acceptor_gain | 1.0000 |
| 19:5590409:C:CG | acceptor_loss | 1.0000 |
| 19:5592743:TGAC:T | donor_loss | 1.0000 |
| 19:5592744:GACC:G | donor_loss | 1.0000 |
| 19:5592745:A:AC | donor_gain | 1.0000 |
| 19:5592745:ACCT:A | donor_loss | 1.0000 |
| 19:5592746:C:CC | donor_gain | 1.0000 |
| 19:5592746:CCTGT:C | donor_gain | 1.0000 |
| 19:5592883:CTCGT:C | acceptor_gain | 1.0000 |
| 19:5592884:TCGT:T | acceptor_gain | 1.0000 |
| 19:5592885:CGT:C | acceptor_gain | 1.0000 |
| 19:5592885:CGTC:C | acceptor_gain | 1.0000 |
| 19:5592886:GT:G | acceptor_gain | 1.0000 |
| 19:5592886:GTCTG:G | acceptor_loss | 1.0000 |
| 19:5592887:TC:T | acceptor_loss | 1.0000 |
| 19:5592888:C:CA | acceptor_loss | 1.0000 |
| 19:5592888:C:CC | acceptor_gain | 1.0000 |
AlphaMissense
6276 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:5604794:A:T | V480E | 1.000 |
| 19:5604800:A:C | I478S | 1.000 |
| 19:5604800:A:G | I478T | 1.000 |
| 19:5604800:A:T | I478N | 1.000 |
| 19:5604815:A:G | L473P | 1.000 |
| 19:5604830:A:G | L468P | 1.000 |
| 19:5604841:G:C | C464W | 1.000 |
| 19:5604843:A:G | C464R | 1.000 |
| 19:5604875:A:T | V453D | 1.000 |
| 19:5604877:G:C | F452L | 1.000 |
| 19:5604877:G:T | F452L | 1.000 |
| 19:5604878:A:C | F452C | 1.000 |
| 19:5604878:A:G | F452S | 1.000 |
| 19:5604879:A:G | F452L | 1.000 |
| 19:5604881:C:A | G451V | 1.000 |
| 19:5604881:C:T | G451E | 1.000 |
| 19:5604882:C:G | G451R | 1.000 |
| 19:5604882:C:T | G451R | 1.000 |
| 19:5604885:A:C | Y450D | 1.000 |
| 19:5604886:G:C | C449W | 1.000 |
| 19:5604888:A:G | C449R | 1.000 |
| 19:5604908:G:T | A442D | 1.000 |
| 19:5604917:A:T | V439E | 1.000 |
| 19:5604920:A:T | V438E | 1.000 |
| 19:5604922:T:A | K437N | 1.000 |
| 19:5604922:T:G | K437N | 1.000 |
| 19:5604923:T:A | K437I | 1.000 |
| 19:5604924:T:C | K437E | 1.000 |
| 19:5604926:G:T | A436D | 1.000 |
| 19:5604935:A:T | V433D | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000080546 (19:5598571 C>G,T), RS1000187445 (19:5601743 TAAG>T), RS1000282044 (19:5607215 C>A,G,T), RS1000333940 (19:5607419 A>T), RS1000371187 (19:5622744 C>G,T), RS1000526590 (19:5592164 T>C), RS1000541540 (19:5614415 T>C), RS1000612591 (19:5619664 T>C), RS1000661968 (19:5608381 G>A), RS1000824449 (19:5600551 G>A), RS1000847161 (19:5611899 T>C), RS1000912840 (19:5614212 C>T), RS1000950257 (19:5593745 G>A,C), RS1001284647 (19:5608556 A>C,G), RS1001313008 (19:5592525 G>A,C)
Disease associations
OMIM: gene MIM:608066 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): prostate cancer (MONDO:0008315)
Orphanet (1): Familial prostate cancer (Orphanet:1331)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001188_1 | vWF and FVIII levels | 9.000000e-06 |
| GCST003434_10 | Obsessive-compulsive symptoms | 7.000000e-06 |
| GCST009844_7 | Creativity | 3.000000e-06 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007802 | obsessive-compulsive symptom measurement |
| EFO:0010650 | creativity measurement |
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
40 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Quercetin | decreases phosphorylation, increases expression | 2 |
| Valproic Acid | increases expression, affects expression | 2 |
| aristolochic acid I | increases expression | 1 |
| GSK-J4 | increases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| TAK-243 | decreases sumoylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | decreases expression | 1 |
| arsenite | increases methylation | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| sodium arsenite | increases expression | 1 |
| potassium chromate(VI) | affects cotreatment, increases expression | 1 |
| coumarin | decreases phosphorylation | 1 |
| epigallocatechin gallate | affects cotreatment, increases expression | 1 |
| 2,3,5-(triglutathion-S-yl)hydroquinone | increases ADP-ribosylation | 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 |
| ICG 001 | decreases expression | 1 |
| Grape Seed Proanthocyanidins | affects cotreatment, decreases expression | 1 |
| LDN 193189 | affects cotreatment, decreases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Benzo(a)pyrene | decreases methylation | 1 |
| Caffeine | affects phosphorylation | 1 |
| Catechin | affects cotreatment, decreases expression | 1 |
| Dimethyl Sulfoxide | increases expression | 1 |
| Doxorubicin | increases expression | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Ivermectin | decreases expression | 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.