SCAF11
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Also known as SIP1SRRP129CASP11
Summary
SCAF11 (SR-related CTD associated factor 11, HGNC:10784) is a protein-coding gene on chromosome 12q12, encoding Protein SCAF11 (Q99590). Plays a role in pre-mRNA alternative splicing by regulating spliceosome assembly.
Enables RNA binding activity. Involved in spliceosomal complex assembly. Located in nuclear body and nucleolus.
Source: NCBI Gene 9169 — RefSeq curated summary.
At a glance
- GWAS associations: 9
- Clinical variants (ClinVar): 201 total — 1 likely-pathogenic
- MANE Select transcript:
NM_004719
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:10784 |
| Approved symbol | SCAF11 |
| Name | SR-related CTD associated factor 11 |
| Location | 12q12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | SIP1, SRRP129, CASP11 |
| Ensembl gene | ENSG00000139218 |
| Ensembl biotype | protein_coding |
| OMIM | 603668 |
| Entrez | 9169 |
Gene structure
Transcript identifiers
Ensembl transcripts: 19 — 12 protein_coding, 3 retained_intron, 3 protein_coding_CDS_not_defined, 1 non_stop_decay
ENST00000266589, ENST00000369367, ENST00000395453, ENST00000395454, ENST00000465950, ENST00000474828, ENST00000484275, ENST00000546534, ENST00000547018, ENST00000547654, ENST00000547950, ENST00000549162, ENST00000550629, ENST00000550893, ENST00000551391, ENST00000884498, ENST00000943612, ENST00000943613, ENST00000943614
RefSeq mRNA: 1 — MANE Select: NM_004719
NM_004719
CCDS: CCDS8748
Canonical transcript exons
ENST00000369367 — 15 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000887974 | 45924728 | 45925074 |
| ENSE00001648848 | 45951650 | 45951727 |
| ENSE00001700360 | 45945249 | 45945313 |
| ENSE00001722333 | 45948437 | 45948537 |
| ENSE00001768974 | 45961700 | 45961857 |
| ENSE00001800405 | 45926142 | 45928859 |
| ENSE00003491482 | 45934176 | 45934285 |
| ENSE00003511524 | 45931506 | 45931612 |
| ENSE00003514236 | 45964107 | 45964188 |
| ENSE00003522582 | 45919131 | 45922194 |
| ENSE00003536357 | 45934447 | 45934505 |
| ENSE00003544698 | 45922936 | 45923154 |
| ENSE00003616882 | 45922463 | 45922582 |
| ENSE00003653970 | 45933131 | 45933232 |
| ENSE00003850068 | 45990353 | 45990574 |
Expression profiles
Bgee: expression breadth ubiquitous, 295 present calls, max score 98.71.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 48.8720 / max 555.5009, expressed in 1823 samples.
FANTOM5 promoters (7 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 130564 | 38.2259 | 1818 |
| 130563 | 6.7718 | 1711 |
| 130567 | 1.5642 | 828 |
| 130562 | 0.8550 | 589 |
| 130561 | 0.5778 | 319 |
| 130565 | 0.4786 | 241 |
| 130566 | 0.3985 | 211 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| buccal mucosa cell | CL:0002336 | 98.71 | gold quality |
| colonic epithelium | UBERON:0000397 | 98.40 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 98.35 | gold quality |
| calcaneal tendon | UBERON:0003701 | 98.27 | gold quality |
| tendon | UBERON:0000043 | 98.06 | gold quality |
| lower lobe of lung | UBERON:0008949 | 97.58 | gold quality |
| jejunal mucosa | UBERON:0000399 | 97.55 | gold quality |
| pylorus | UBERON:0001166 | 97.46 | gold quality |
| tonsil | UBERON:0002372 | 97.31 | gold quality |
| oral cavity | UBERON:0000167 | 97.30 | gold quality |
| sural nerve | UBERON:0015488 | 97.29 | gold quality |
| visceral pleura | UBERON:0002401 | 97.24 | gold quality |
| bone marrow cell | CL:0002092 | 97.17 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 97.10 | gold quality |
| superficial temporal artery | UBERON:0001614 | 97.01 | gold quality |
| superior surface of tongue | UBERON:0007371 | 97.00 | gold quality |
| jejunum | UBERON:0002115 | 96.97 | gold quality |
| olfactory bulb | UBERON:0002264 | 96.89 | gold quality |
| cardia of stomach | UBERON:0001162 | 96.85 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 96.83 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 96.70 | gold quality |
| adrenal tissue | UBERON:0018303 | 96.66 | gold quality |
| skin of hip | UBERON:0001554 | 96.62 | gold quality |
| nipple | UBERON:0002030 | 96.45 | gold quality |
| blood vessel layer | UBERON:0004797 | 96.37 | gold quality |
| bone marrow | UBERON:0002371 | 96.34 | gold quality |
| gluteal muscle | UBERON:0002000 | 96.31 | gold quality |
| tibia | UBERON:0000979 | 96.30 | gold quality |
| monocyte | CL:0000576 | 96.24 | gold quality |
| parietal pleura | UBERON:0002400 | 96.19 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6379 | no | 2257.16 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
200 targeting SCAF11, 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-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-25-3P | 99.98 | 74.60 | 1817 |
| HSA-MIR-32-5P | 99.98 | 75.21 | 1964 |
| HSA-MIR-363-3P | 99.98 | 74.72 | 1821 |
| HSA-MIR-367-3P | 99.98 | 74.83 | 1819 |
| HSA-MIR-92A-3P | 99.98 | 75.21 | 1960 |
| HSA-MIR-92B-3P | 99.98 | 75.25 | 1955 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-103A-3P | 99.98 | 69.14 | 1595 |
| HSA-MIR-107 | 99.98 | 69.14 | 1595 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-539-3P | 99.98 | 70.74 | 1616 |
Literature-anchored findings (GeneRIF, showing 3)
- Sip1 C-terminal is a novel autoantigen in Behcet’s disease. IgM specific to Sip1 C-ter might be useful in clinical practice as an immunological marker of endothelial dysfunction in vasculitis. (PMID:16611372)
- Regulation, Activation and Function of Caspase-11 during Health and Disease. (PMID:33546173)
- CASP4/11 Contributes to NLRP3 Activation and COVID-19 Exacerbation. (PMID:36763010)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | scaf11 | ENSDARG00000045885 |
| mus_musculus | Scaf11 | ENSMUSG00000033228 |
| rattus_norvegicus | Scaf11 | ENSRNOG00000005263 |
| drosophila_melanogaster | CG2926 | FBGN0037344 |
Paralogs (2): PHRF1 (ENSG00000070047), SCAF1 (ENSG00000126461)
Protein
Protein identifiers
Protein SCAF11 — Q99590 (reviewed: Q99590)
Alternative names: CTD-associated SR protein 11, Renal carcinoma antigen NY-REN-40, SC35-interacting protein 1, SR-related and CTD-associated factor 11, SRSF2-interacting protein, Serine/arginine-rich splicing factor 2-interacting protein, Splicing factor, arginine/serine-rich 2-interacting protein, Splicing regulatory protein 129
All UniProt accessions (8): A0A087WTB7, A0A087WUE7, A0A0A0MTP7, A8MTP4, A8MUK0, Q99590, F8VXG7, F8W6K1
UniProt curated annotations — full annotation on UniProt →
Function. Plays a role in pre-mRNA alternative splicing by regulating spliceosome assembly.
Subunit / interactions. Interacts with SRSF2/SFRS2, U2AF2 and SNRNP70.
Subcellular location. Nucleus.
Tissue specificity. Widely expressed.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q99590-1 | 1 | yes |
| Q99590-2 | 2 |
RefSeq proteins (1): NP_004710* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001841 | Znf_RING | Domain |
| IPR013083 | Znf_RING/FYVE/PHD | Homologous_superfamily |
| IPR017907 | Znf_RING_CS | Conserved_site |
| IPR057031 | SFR19-like_C | Domain |
Pfam: PF13639, PF23030
UniProt features (71 total): modified residue 34, compositionally biased region 17, cross-link 7, region of interest 6, sequence variant 2, sequence conflict 2, chain 1, zinc finger region 1, splice variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q99590-F1 | 42.56 | 0.06 |
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 (41): 331, 338, 341, 344, 400, 401, 402, 405, 410, 413, 533, 588, 608, 614, 680, 687, 694, 723, 726, 769 …
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 231 (showing top):
GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, chr12q12, MARTINEZ_RB1_TARGETS_UP, GROSS_HYPOXIA_VIA_ELK3_DN, GOBP_PROTEIN_RNA_COMPLEX_ORGANIZATION, GOBP_RNA_SPLICING, PU1_Q6, FLECHNER_BIOPSY_KIDNEY_TRANSPLANT_REJECTED_VS_OK_DN, GNF2_DDX5, DBP_Q6, GOBP_RIBONUCLEOPROTEIN_COMPLEX_BIOGENESIS, SPIELMAN_LYMPHOBLAST_EUROPEAN_VS_ASIAN_DN, MARIADASON_RESPONSE_TO_BUTYRATE_SULINDAC_6, RAAGNYNNCTTY_UNKNOWN, GOCC_NUCLEAR_BODY
GO Biological Process (4): spliceosomal complex assembly (GO:0000245), RNA splicing, via transesterification reactions (GO:0000375), mRNA processing (GO:0006397), RNA splicing (GO:0008380)
GO Molecular Function (4): RNA binding (GO:0003723), zinc ion binding (GO:0008270), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (4): nucleoplasm (GO:0005654), nucleolus (GO:0005730), nuclear body (GO:0016604), nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| RNA processing | 2 |
| nuclear lumen | 2 |
| intracellular membraneless organelle | 2 |
| mRNA splicing, via spliceosome | 1 |
| protein-RNA complex assembly | 1 |
| RNA splicing | 1 |
| mRNA metabolic process | 1 |
| nucleic acid binding | 1 |
| transition metal ion binding | 1 |
| binding | 1 |
| cation binding | 1 |
| cellular anatomical structure | 1 |
| nucleoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
1710 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SCAF11 | PNISR | Q8TF01 | 869 |
| SCAF11 | CASP4 | P49662 | 860 |
| SCAF11 | U2AF2 | P26368 | 794 |
| SCAF11 | SRSF2 | Q01130 | 711 |
| SCAF11 | CASP1 | P29466 | 704 |
| SCAF11 | CASP8 | Q14790 | 675 |
| SCAF11 | GSDMB | Q8TAX9 | 659 |
| SCAF11 | RASA4 | O43374 | 624 |
| SCAF11 | GSDMC | Q9BYG8 | 619 |
| SCAF11 | PJVK | Q0ZLH3 | 606 |
| SCAF11 | CASP5 | P51878 | 600 |
| SCAF11 | GSDME | O60443 | 584 |
| SCAF11 | GSDMD | P57764 | 571 |
| SCAF11 | IL1B | P01584 | 558 |
| SCAF11 | NLRP7 | Q8WX94 | 547 |
IntAct
108 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| POLR2J | POLR1C | psi-mi:“MI:0914”(association) | 0.830 |
| PRMT8 | SYNCRIP | psi-mi:“MI:0914”(association) | 0.830 |
| RPRD1B | POLR2D | psi-mi:“MI:0914”(association) | 0.730 |
| U2AF1 | U2AF2 | psi-mi:“MI:0914”(association) | 0.670 |
| U2AF2 | SCAF11 | psi-mi:“MI:0915”(physical association) | 0.640 |
| APBA3 | DUSP11 | psi-mi:“MI:0914”(association) | 0.530 |
| SUPT5H | POLR2D | psi-mi:“MI:0914”(association) | 0.530 |
| YWHAZ | BLTP3B | psi-mi:“MI:0914”(association) | 0.530 |
| TRPC4AP | SMCHD1 | psi-mi:“MI:0914”(association) | 0.530 |
| LUC7L2 | CASC3 | psi-mi:“MI:0914”(association) | 0.530 |
| SRPK2 | RRP9 | psi-mi:“MI:0914”(association) | 0.530 |
| EZH1 | EPOP | psi-mi:“MI:0914”(association) | 0.530 |
| ABT1 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| RPL13 | RRP8 | psi-mi:“MI:0914”(association) | 0.530 |
| CPSF6 | DDX39A | psi-mi:“MI:0914”(association) | 0.480 |
| U2AF2 | U2SURP | psi-mi:“MI:0914”(association) | 0.480 |
| SCAF11 | PSIP1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| LGALSL | SCAF11 | psi-mi:“MI:0915”(physical association) | 0.400 |
| S100A9 | SCAF11 | psi-mi:“MI:0915”(physical association) | 0.370 |
| SCAF11 | STAT3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| SCAF11 | MRPL3 | psi-mi:“MI:0914”(association) | 0.350 |
| MKI67 | ARHGAP10 | psi-mi:“MI:0914”(association) | 0.350 |
| Mecom | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| ESR1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| CUL4A | HAX1 | psi-mi:“MI:0914”(association) | 0.350 |
| TRPC4AP | SMCHD1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (161): SCAF11 (Affinity Capture-MS), SCAF11 (Affinity Capture-MS), SCAF11 (Affinity Capture-MS), SLC25A6 (Affinity Capture-MS), LGALS3BP (Affinity Capture-MS), TUBG1 (Affinity Capture-MS), TUBGCP3 (Affinity Capture-MS), TUBGCP2 (Affinity Capture-MS), MRPL3 (Affinity Capture-MS), TUBGCP4 (Affinity Capture-MS), NME7 (Affinity Capture-MS), ZNFX1 (Affinity Capture-MS), C2orf44 (Affinity Capture-MS), TUBGCP6 (Affinity Capture-MS), TUBGCP5 (Affinity Capture-MS)
ESM2 similar proteins: A0JM80, A0JNH1, A0JNH9, A3KMW7, A6NMK8, A6QNQ6, B0BM16, B1H1S4, B1WC58, B2GUZ2, D3Z987, D3ZF42, E7FAP1, F6SNN2, P23497, P70347, Q0P5X5, Q14B71, Q283Q6, Q29RT4, Q2M2Z5, Q3U0P1, Q3ULM6, Q3UXL4, Q3V089, Q571C7, Q5HZI1, Q5R9I1, Q5RD97, Q5W0B1, Q6GNV6, Q6KAQ7, Q6P1D7, Q6PDM4, Q7TSY8, Q7ZZH7, Q80WQ8, Q80YR6, Q86YC2, Q8BUH8
Diamond homologs: A1YVX4, A2A8L1, A2AUY4, A2BIL7, A6H619, A7E320, A8DZJ1, A9LMC0, B6CHA3, B7ZS37, B9RU15, C4QVX6, D3ZD32, E7EZF3, F4I240, F4JYC8, F4KE59, F6UA42, G5EBZ4, O43918, O88379, O94400, O97159, P29375, P41229, P41230, P46605, P47156, P48786, P56163, P58268, P58269, P58270, Q04996, Q09477, Q12830, Q12873, Q14839, Q23541, Q23590
SIGNOR signaling
3 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| Ub:E2 | “up-regulates activity” | SCAF11 | ubiquitination |
| SCAF11 | “up-regulates activity” | PSEN1 | cleavage |
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.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| mRNA 3’-end processing | 11 | 23.8× | 7e-11 |
| RNA Polymerase II Transcription Termination | 9 | 21.7× | 2e-08 |
| Transport of Mature Transcript to Cytoplasm | 5 | 20.9× | 2e-04 |
| mRNA Splicing | 17 | 20.5× | 6e-16 |
| mRNA Polyadenylation | 21 | 20.3× | 2e-19 |
| mRNA Splicing - Minor Pathway | 8 | 19.7× | 4e-07 |
| Processing of Capped Intron-Containing Pre-mRNA | 19 | 17.1× | 2e-16 |
| Transport of Mature mRNA derived from an Intron-Containing Transcript | 9 | 15.1× | 5e-07 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| mRNA splicing, via spliceosome | 17 | 12.7× | 2e-11 |
| RNA processing | 7 | 12.5× | 3e-04 |
| regulation of alternative mRNA splicing, via spliceosome | 6 | 11.9× | 1e-03 |
| negative regulation of translation | 7 | 11.2× | 5e-04 |
| ribosomal small subunit biogenesis | 5 | 9.3× | 9e-03 |
| RNA splicing | 12 | 8.6× | 4e-06 |
| mRNA processing | 13 | 8.3× | 2e-06 |
| rRNA processing | 7 | 8.1× | 2e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
201 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 1 |
| Uncertain significance | 169 |
| Likely benign | 13 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 815524 | GRCh37/hg19 12q12(chr12:46141773-46375955)x1 | Likely pathogenic |
SpliceAI
2133 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:45922458:CTT:C | donor_loss | 1.0000 |
| 12:45922461:A:AC | donor_gain | 1.0000 |
| 12:45922461:ACTTT:A | donor_loss | 1.0000 |
| 12:45922462:C:CC | donor_gain | 1.0000 |
| 12:45922500:T:TA | donor_gain | 1.0000 |
| 12:45922578:AATTT:A | acceptor_gain | 1.0000 |
| 12:45922579:ATTT:A | acceptor_gain | 1.0000 |
| 12:45922580:TTT:T | acceptor_gain | 1.0000 |
| 12:45922581:TT:T | acceptor_gain | 1.0000 |
| 12:45922582:TCTG:T | acceptor_loss | 1.0000 |
| 12:45922583:C:A | acceptor_loss | 1.0000 |
| 12:45922583:C:CC | acceptor_gain | 1.0000 |
| 12:45922586:A:AC | acceptor_gain | 1.0000 |
| 12:45922586:A:C | acceptor_gain | 1.0000 |
| 12:45925075:C:CC | acceptor_gain | 1.0000 |
| 12:45926140:AC:A | donor_gain | 1.0000 |
| 12:45926141:CC:C | donor_gain | 1.0000 |
| 12:45931499:A:AC | donor_gain | 1.0000 |
| 12:45931500:C:CC | donor_gain | 1.0000 |
| 12:45931528:A:AC | donor_gain | 1.0000 |
| 12:45931529:C:CC | donor_gain | 1.0000 |
| 12:45931608:CAATT:C | acceptor_gain | 1.0000 |
| 12:45931871:A:C | donor_gain | 1.0000 |
| 12:45933228:CTGTA:C | acceptor_gain | 1.0000 |
| 12:45933233:C:CC | acceptor_gain | 1.0000 |
| 12:45934174:A:AC | donor_gain | 1.0000 |
| 12:45934175:C:CC | donor_gain | 1.0000 |
| 12:45934286:C:CC | acceptor_gain | 1.0000 |
| 12:45945247:A:AC | donor_gain | 1.0000 |
| 12:45945248:C:CT | donor_gain | 1.0000 |
AlphaMissense
9689 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:45922142:A:T | V1433D | 1.000 |
| 12:45922145:A:G | L1432P | 1.000 |
| 12:45922145:A:T | L1432Q | 1.000 |
| 12:45922463:T:A | K1415N | 1.000 |
| 12:45922463:T:G | K1415N | 1.000 |
| 12:45922465:T:C | K1415E | 1.000 |
| 12:45922474:C:G | A1412P | 1.000 |
| 12:45922479:C:G | R1410P | 1.000 |
| 12:45922485:A:C | I1408S | 1.000 |
| 12:45922485:A:T | I1408N | 1.000 |
| 12:45922490:T:A | K1406N | 1.000 |
| 12:45922490:T:G | K1406N | 1.000 |
| 12:45922495:A:G | Y1405H | 1.000 |
| 12:45922502:C:A | K1402N | 1.000 |
| 12:45922502:C:G | K1402N | 1.000 |
| 12:45922509:A:C | I1400S | 1.000 |
| 12:45922509:A:T | I1400N | 1.000 |
| 12:45922525:A:C | Y1395D | 1.000 |
| 12:45922536:A:T | I1391N | 1.000 |
| 12:45922539:G:T | A1390D | 1.000 |
| 12:45922540:C:G | A1390P | 1.000 |
| 12:45922122:A:C | Y1440D | 0.999 |
| 12:45922125:T:C | K1439E | 0.999 |
| 12:45922130:A:T | V1437E | 0.999 |
| 12:45922134:A:C | Y1436D | 0.999 |
| 12:45922134:A:G | Y1436H | 0.999 |
| 12:45922137:C:G | A1435P | 0.999 |
| 12:45922143:C:A | V1433F | 0.999 |
| 12:45922154:A:T | V1429E | 0.999 |
| 12:45922156:T:A | K1428N | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000007424 (12:45923594 A>G), RS1000050747 (12:45921304 T>C), RS1000066879 (12:45976791 TA>T), RS1000078570 (12:45967305 A>G), RS1000174931 (12:45924695 A>G), RS1000186620 (12:45929226 T>C), RS1000225918 (12:45951873 T>C), RS1000227122 (12:45932596 C>G), RS1000256894 (12:45951486 A>T), RS1000307007 (12:45993834 C>G), RS1000313861 (12:45982472 C>A), RS1000314262 (12:45937330 T>C), RS1000322999 (12:45929470 T>C), RS1000356162 (12:45982134 C>T), RS1000371586 (12:45988478 A>C)
Disease associations
OMIM: gene MIM:603668 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): breast ductal adenocarcinoma (MONDO:0005590)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
9 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000461_8 | Hippocampal atrophy | 8.000000e-06 |
| GCST005194_251 | Coronary artery disease | 2.000000e-07 |
| GCST007565_39 | Morning person | 1.000000e-15 |
| GCST009325_10 | Parkinson’s disease or first degree relation to individual with Parkinson’s disease | 4.000000e-08 |
| GCST009391_1757 | Metabolite levels | 5.000000e-07 |
| GCST009597_216 | Multiple sclerosis | 6.000000e-07 |
| GCST010002_216 | Refractive error | 2.000000e-29 |
| GCST010083_255 | Hemoglobin levels | 2.000000e-11 |
| GCST010142_31 | Fish- and plant-related diet | 7.000000e-09 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005039 | hippocampal atrophy |
| EFO:0008328 | chronotype measurement |
| EFO:0010370 | lysophosphatidylethanolamine 20:4 measurement |
| EFO:0004509 | hemoglobin measurement |
| EFO:0008111 | diet measurement |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D018270 | Carcinoma, Ductal, Breast | C04.557.470.200.025.232.500; C04.557.470.615.132.500; C04.588.180.390; C17.800.090.500.390 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
55 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases expression | 6 |
| trichostatin A | affects expression, increases expression | 2 |
| sodium arsenite | affects methylation, affects cotreatment, increases abundance, increases expression | 2 |
| Acetaminophen | decreases expression | 2 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 2 |
| Cadmium Chloride | increases abundance, increases expression, decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| afuresertib | decreases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| TAK-243 | increases sumoylation | 1 |
| testosterone enanthate | affects expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| bisphenol A | increases expression | 1 |
| lead acetate | increases expression, affects cotreatment | 1 |
| methylparaben | decreases expression | 1 |
| mono-(2-ethylhexyl)phthalate | increases methylation, increases abundance | 1 |
| zinc protoporphyrin | affects cotreatment, increases expression | 1 |
| manganese chloride | increases abundance, increases expression, affects cotreatment | 1 |
| coumarin | affects phosphorylation | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| torcetrapib | increases expression | 1 |
| bisphenol S | affects cotreatment, increases methylation | 1 |
| jinfukang | decreases expression | 1 |
| NSC 689534 | increases expression, affects binding | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Arsenic | increases expression, affects cotreatment, increases abundance | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Caffeine | affects phosphorylation | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B2EL | Abcam HeLa SCAF11 KO | Cancer cell line | Female |
Clinical trials (associated diseases)
11 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT03414970 | PHASE3 | ACTIVE_NOT_RECRUITING | Hypofractionated Radiation Therapy After Mastectomy in Preventing Recurrence in Patients With Stage IIa-IIIa Breast Cancer |
| NCT00461344 | PHASE2 | TERMINATED | Docetaxel + Doxorubicin as Neoadjuvant Chemotherapy in Patients With Breast Cancer |
| NCT07499999 | PHASE2 | NOT_YET_RECRUITING | Randomized Double-Blind Phase II Trial of Baby Exemestane Versus Baby Tamoxifen in Post-Menopausal Women at High Risk for Breast Cancer |
| NCT00637364 | PHASE1/PHASE2 | SUSPENDED | High Intensity Focused Ultrasound Tumor Treatment for Pancreatic Cancer Pain |
| NCT02779855 | PHASE1/PHASE2 | COMPLETED | Talimogene Laherparepvec in Combination With Neoadjuvant Chemotherapy in Triple Negative Breast Cancer |
| NCT01753908 | EARLY_PHASE1 | COMPLETED | Broccoli Sprout Extract in Treating Patients With Breast Cancer |
| NCT01796041 | EARLY_PHASE1 | COMPLETED | Intraoperative Imaging of Breast Cancer With Indocyanine Green |
| NCT01208974 | Not specified | ACTIVE_NOT_RECRUITING | Nipple-Areola Complex (NAC) Irradiation After Nipple-Sparing Mastectomy and Reconstruction |
| NCT01875198 | Not specified | TERMINATED | Oncologic Impact of Splenectomy-omitting Radical Pancreatectomy in Well-selected Left-sided Pancreatic Cancer |
| NCT03543397 | Not specified | UNKNOWN | MRI in Ductal Carcinoma in Situ (DCIS) |
| NCT03834532 | Not specified | COMPLETED | Living Well After Breast Surgery |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): breast ductal adenocarcinoma, coronary artery disorder, multiple sclerosis, Parkinson disease