SFMBT2
gene geneOn this page
Also known as KIAA1617
Summary
SFMBT2 (Scm like with four mbt domains 2, HGNC:20256) is a protein-coding gene on chromosome 10p14, encoding Scm-like with four MBT domains protein 2 (Q5VUG0). Transcriptional repressor of HOXB13 gene.
Enables histone binding activity. Involved in negative regulation of gene expression. Located in aggresome; cytosol; and nuclear speck.
Source: NCBI Gene 57713 — RefSeq curated summary.
At a glance
- GWAS associations: 6
- Clinical variants (ClinVar): 149 total
- MANE Select transcript:
NM_001387889
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:20256 |
| Approved symbol | SFMBT2 |
| Name | Scm like with four mbt domains 2 |
| Location | 10p14 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA1617 |
| Ensembl gene | ENSG00000198879 |
| Ensembl biotype | protein_coding |
| OMIM | 615392 |
| Entrez | 57713 |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 8 protein_coding, 2 nonsense_mediated_decay, 1 retained_intron
ENST00000361972, ENST00000379711, ENST00000379713, ENST00000397167, ENST00000673876, ENST00000682043, ENST00000682101, ENST00000682180, ENST00000682896, ENST00000683762, ENST00000684547
RefSeq mRNA: 5 — MANE Select: NM_001387889
NM_001018039, NM_001029880, NM_001387889, NM_001387890, NM_001387891
CCDS: CCDS31138
Canonical transcript exons
ENST00000397167 — 21 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000689524 | 7248548 | 7248649 |
| ENSE00000837270 | 7227855 | 7227937 |
| ENSE00000837272 | 7276892 | 7276989 |
| ENSE00000837273 | 7283904 | 7284150 |
| ENSE00000915092 | 7220411 | 7220537 |
| ENSE00000915093 | 7243558 | 7243705 |
| ENSE00000915094 | 7367649 | 7367889 |
| ENSE00000915095 | 7370281 | 7370375 |
| ENSE00000985193 | 7205815 | 7205928 |
| ENSE00000985194 | 7202480 | 7202522 |
| ENSE00000985195 | 7200414 | 7200484 |
| ENSE00000985196 | 7197548 | 7197687 |
| ENSE00000985197 | 7188624 | 7188733 |
| ENSE00000985198 | 7175990 | 7176165 |
| ENSE00000985199 | 7172495 | 7172661 |
| ENSE00000985200 | 7171895 | 7172158 |
| ENSE00000985201 | 7170928 | 7171056 |
| ENSE00001215170 | 7285866 | 7285954 |
| ENSE00001215204 | 7381799 | 7381949 |
| ENSE00001629306 | 7158624 | 7163910 |
| ENSE00003921905 | 7410861 | 7411034 |
Expression profiles
Bgee: expression breadth ubiquitous, 230 present calls, max score 85.93.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 5.9047 / max 217.7955, expressed in 1019 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 108184 | 5.6412 | 1017 |
| 108185 | 0.2635 | 115 |
Top tissues by expression
247 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sural nerve | UBERON:0015488 | 85.93 | gold quality |
| bone marrow cell | CL:0002092 | 85.79 | gold quality |
| cartilage tissue | UBERON:0002418 | 83.13 | gold quality |
| corpus callosum | UBERON:0002336 | 81.56 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 81.50 | gold quality |
| decidua | UBERON:0002450 | 79.56 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 79.41 | gold quality |
| adrenal tissue | UBERON:0018303 | 79.14 | gold quality |
| granulocyte | CL:0000094 | 79.00 | gold quality |
| mucosa of stomach | UBERON:0001199 | 78.45 | gold quality |
| spleen | UBERON:0002106 | 78.32 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 77.57 | gold quality |
| colonic epithelium | UBERON:0000397 | 77.30 | gold quality |
| leukocyte | CL:0000738 | 77.17 | gold quality |
| spinal cord | UBERON:0002240 | 77.15 | gold quality |
| lymph node | UBERON:0000029 | 77.04 | gold quality |
| monocyte | CL:0000576 | 76.87 | gold quality |
| left ovary | UBERON:0002119 | 76.75 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 76.73 | gold quality |
| vermiform appendix | UBERON:0001154 | 75.67 | gold quality |
| ovary | UBERON:0000992 | 75.61 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 75.58 | gold quality |
| prostate gland | UBERON:0002367 | 75.51 | gold quality |
| lower esophagus | UBERON:0013473 | 75.51 | gold quality |
| right ovary | UBERON:0002118 | 75.25 | gold quality |
| hypothalamus | UBERON:0001898 | 74.94 | gold quality |
| superficial temporal artery | UBERON:0001614 | 74.89 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 74.80 | silver quality |
| tibialis anterior | UBERON:0001385 | 74.52 | silver quality |
| bone marrow | UBERON:0002371 | 74.41 | gold quality |
Single-cell (SCXA)
Detected in 7 experiment(s), a significant marker in 6.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-100618 | yes | 238.18 |
| E-MTAB-9067 | yes | 194.94 |
| E-HCAD-35 | yes | 41.03 |
| E-CURD-119 | yes | 27.19 |
| E-HCAD-25 | yes | 21.71 |
| E-ANND-3 | yes | 5.05 |
| E-CURD-10 | no | 58.76 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
147 targeting SFMBT2, 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-5193 | 100.00 | 67.26 | 1744 |
| HSA-MIR-6856-5P | 100.00 | 65.47 | 1298 |
| HSA-MIR-6758-5P | 100.00 | 66.21 | 1470 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-4481 | 100.00 | 66.42 | 1669 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-4715-3P | 99.98 | 66.03 | 670 |
| HSA-LET-7F-2-3P | 99.98 | 70.98 | 2588 |
| HSA-MIR-1185-1-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-1185-2-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-7152-3P | 99.97 | 67.47 | 849 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-545-3P | 99.95 | 70.74 | 2783 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-6508-5P | 99.92 | 70.67 | 2465 |
| HSA-MIR-1305 | 99.91 | 71.43 | 3443 |
| HSA-MIR-3529-3P | 99.90 | 73.55 | 3045 |
| HSA-MIR-3671 | 99.90 | 73.04 | 3897 |
Literature-anchored findings (GeneRIF, showing 9)
- SFMBT2 may regulate cell growth via epigenetic regulation of HOXB13 gene expression in prostate cancer cells. (PMID:23385818)
- Findings suggest that regulation of SFMBT2 may provide a new therapeutic strategy to control prostate cancer metastasis as well as being a potential biomarker of metastatic prostate cancer. (PMID:27340776)
- we revealed that SFMBT2 intervention by siRNA contributed to the catabolic phenotype of human chondrocytes mediated by NF-kB pathway. (PMID:30133133)
- The present study identified Scmlike with four malignant brain tumor domains 2 (SFMBT2) as a novel regulator of SOX9 expression. (PMID:30272322)
- Circular RNA SFMBT2 Inhibits the Proliferation and Metastasis of Glioma Cells Through Mir-182-5p/Mtss1 Pathway. (PMID:32729377)
- CircSFMBT2 facilitates vascular smooth muscle cell proliferation by targeting miR-331-3p/HDAC5. (PMID:33166591)
- Circ-SFMBT2 facilitates the malignant growth of acute myeloid leukemia cells by modulating miR-582-3p/ZBTB20 pathway. (PMID:34825699)
- [Effects of circ-SFMBT2 on Proliferation, Migration and Invasion of Acute Myeloid Leukemia Cells by Regulating miR-491-5p/HOXA9 Axis]. (PMID:38071034)
- Acetylation- and ubiquitination-regulated SFMBT2 acts as a tumor suppressor in clear cell renal cell carcinoma. (PMID:38734627)
Cross-species orthologs
7 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | sfmbt2 | ENSDARG00000045519 |
| mus_musculus | Sfmbt2 | ENSMUSG00000061186 |
| rattus_norvegicus | Sfmbt2 | ENSRNOG00000029235 |
| drosophila_melanogaster | l(3)mbt | FBGN0002441 |
| drosophila_melanogaster | Sfmbt | FBGN0032475 |
| caenorhabditis_elegans | lin-61 | WBGENE00003041 |
| caenorhabditis_elegans | mbtr-1 | WBGENE00021661 |
Paralogs (18): SCMH1 (ENSG00000010803), MBTD1 (ENSG00000011258), SCML1 (ENSG00000047634), L3MBTL2 (ENSG00000100395), SCML2 (ENSG00000102098), PHC1 (ENSG00000111752), THAP10 (ENSG00000129028), PHC2 (ENSG00000134686), SAMD1 (ENSG00000141858), SCML4 (ENSG00000146285), L3MBTL4 (ENSG00000154655), SFMBT1 (ENSG00000163935), PHC3 (ENSG00000173889), L3MBTL1 (ENSG00000185513), SAMD7 (ENSG00000187033), SAMD11 (ENSG00000187634), L3MBTL3 (ENSG00000198945), SAMD13 (ENSG00000203943)
Protein
Protein identifiers
Scm-like with four MBT domains protein 2 — Q5VUG0 (reviewed: Q5VUG0)
All UniProt accessions (9): Q5VUG0, A0A669KBL2, A0A804HJD5, A0A804HJE9, A0A804HK46, A0A804HKS4, A0A804HLD5, Q5T980, Q5T981
UniProt curated annotations — full annotation on UniProt →
Function. Transcriptional repressor of HOXB13 gene.
Subunit / interactions. Interacts with YY1. Interacts with methylated histones H3K9me2 and H4K20me2, but not with H3K4me2, nor H3K9Ac.
Subcellular location. Nucleus.
RefSeq proteins (5): NP_001018049, NP_001025051, NP_001374818, NP_001374819, NP_001374820 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001660 | SAM | Domain |
| IPR004092 | Mbt | Domain |
| IPR013761 | SAM/pointed_sf | Homologous_superfamily |
| IPR021987 | SLED | Domain |
| IPR037604 | Scm-like-4MBT1/2_SAM | Domain |
| IPR038348 | SLED_sf | Homologous_superfamily |
| IPR047353 | MBT_SFMBT2_rpt1 | Repeat |
| IPR047354 | MBT_SFMBT2_rpt3 | Repeat |
| IPR047355 | MBT_SFMBT2_rpt4 | Repeat |
| IPR050548 | PcG_chromatin_remod_factors | Family |
Pfam: PF00536, PF02820, PF12140
UniProt features (24 total): compositionally biased region 5, repeat 4, helix 4, strand 4, turn 2, region of interest 2, chain 1, sequence variant 1, domain 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 1WJR | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q5VUG0-F1 | 76.55 | 0.50 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 187 (showing top):
GTGCCTT_MIR506, THEODOROU_MAMMARY_TUMORIGENESIS, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_5, YAMAZAKI_TCEB3_TARGETS_UP, GRYDER_PAX3FOXO1_ENHANCERS_IN_TADS, PACHER_TARGETS_OF_IGF1_AND_IGF2_UP, VECCHI_GASTRIC_CANCER_ADVANCED_VS_EARLY_UP, GOMF_CHROMATIN_BINDING, GOCC_NUCLEAR_SPECK, GOCC_NUCLEAR_BODY, GOCC_RIBONUCLEOPROTEIN_GRANULE, MASSARWEH_TAMOXIFEN_RESISTANCE_UP, GOMF_HISTONE_BINDING, BOYLAN_MULTIPLE_MYELOMA_PCA3_UP, ROVERSI_GLIOMA_COPY_NUMBER_DN
GO Biological Process (3): negative regulation of gene expression (GO:0010629), negative regulation of DNA-templated transcription (GO:0045892), regulation of DNA-templated transcription (GO:0006355)
GO Molecular Function (4): chromatin binding (GO:0003682), transcription corepressor activity (GO:0003714), histone binding (GO:0042393), protein binding (GO:0005515)
GO Cellular Component (6): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytosol (GO:0005829), aggresome (GO:0016235), nuclear body (GO:0016604), nuclear speck (GO:0016607)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| regulation of gene expression | 2 |
| DNA-templated transcription | 2 |
| binding | 2 |
| cellular anatomical structure | 2 |
| gene expression | 1 |
| negative regulation of macromolecule biosynthetic process | 1 |
| regulation of DNA-templated transcription | 1 |
| negative regulation of RNA biosynthetic process | 1 |
| regulation of RNA biosynthetic process | 1 |
| transcription coregulator activity | 1 |
| negative regulation of DNA-templated transcription | 1 |
| protein binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cytoplasm | 1 |
| inclusion body | 1 |
| nucleoplasm | 1 |
| intracellular membraneless organelle | 1 |
| nuclear ribonucleoprotein granule | 1 |
Protein interactions and networks
STRING
778 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SFMBT2 | SLC38A4 | Q969I6 | 717 |
| SFMBT2 | JADE1 | Q6IE81 | 663 |
| SFMBT2 | SMOC1 | Q9H4F8 | 628 |
| SFMBT2 | DLK1 | P15803 | 572 |
| SFMBT2 | YY1 | P25490 | 552 |
| SFMBT2 | H3C1 | P02295 | 521 |
| SFMBT2 | H3-7 | Q5TEC6 | 521 |
| SFMBT2 | H3C14 | Q71DI3 | 520 |
| SFMBT2 | H3-5 | Q6NXT2 | 520 |
| SFMBT2 | H3-4 | Q16695 | 520 |
| SFMBT2 | H3-3A | P06351 | 518 |
| SFMBT2 | TSSC4 | Q9Y5U2 | 518 |
| SFMBT2 | PHLDA2 | Q53GA4 | 448 |
| SFMBT2 | IGF2R | P11717 | 439 |
| SFMBT2 | SNRPN | P14648 | 427 |
IntAct
41 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PHC1 | CBX4 | psi-mi:“MI:0914”(association) | 0.790 |
| PHC1 | SFMBT2 | psi-mi:“MI:0915”(physical association) | 0.740 |
| SFMBT2 | SIAH1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SFMBT2 | UBE2O | psi-mi:“MI:0915”(physical association) | 0.560 |
| SFMBT2 | SLF2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SFMBT2 | L3MBTL3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TFAP4 | SFMBT2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SFMBT2 | SCMH1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LYPLA1 | SFMBT2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SFMBT2 | SCML2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SFMBT2 | SCML1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KDM1A | SFMBT2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| PHC1 | CBX6 | psi-mi:“MI:0914”(association) | 0.350 |
| SFMBT2 | DCD | psi-mi:“MI:0914”(association) | 0.350 |
| KLHL22 | TRAV18 | psi-mi:“MI:0914”(association) | 0.350 |
| UBE2O | SFMBT2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| SFMBT2 | SLF2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| SFMBT2 | L3MBTL3 | psi-mi:“MI:0915”(physical association) | 0.000 |
| TFAP4 | SFMBT2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| SFMBT2 | SCML1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| SCMH1 | SFMBT2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| SFMBT2 | PHC1 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (42): SFMBT2 (Affinity Capture-RNA), SFMBT2 (Affinity Capture-RNA), SFMBT2 (Biochemical Activity), SFMBT2 (Affinity Capture-MS), SFMBT2 (Affinity Capture-RNA), SFMBT2 (Affinity Capture-RNA), SFMBT2 (Two-hybrid), SFMBT2 (Two-hybrid), SFMBT2 (Two-hybrid), SFMBT2 (Two-hybrid), SFMBT2 (Two-hybrid), SFMBT2 (Two-hybrid), SFMBT2 (Two-hybrid), SFMBT2 (Two-hybrid), SFMBT2 (Two-hybrid)
ESM2 similar proteins: A0JNA8, A2AFR3, A2AWP8, F1LXF1, O15034, O94844, O94967, O95267, P11274, P28028, Q01826, Q08BT5, Q14161, Q14CM0, Q15139, Q3UGM2, Q3UHE1, Q4R4I0, Q5R5M3, Q5VUG0, Q5XIS9, Q60611, Q62101, Q66H91, Q68FF6, Q6NZQ4, Q6PAJ1, Q6PB44, Q6ZW49, Q6ZWH5, Q80U28, Q8BWW9, Q8BZ03, Q8CGF6, Q8TCU6, Q8VDD9, Q8VI24, Q96GD3, Q9BZ71, Q9BZL6
Diamond homologs: A2A5N8, B1B1A0, D3YUG0, D3YXK1, D3ZWK4, E1C2V1, O02274, O60284, O95251, P39769, P59178, P70047, P70475, P78364, P97500, Q01538, Q05BQ5, Q1JQD9, Q1RNF8, Q29L50, Q32N90, Q3MIF2, Q4V7W5, Q5DTW2, Q5R737, Q5SVQ0, Q5VUG0, Q5VXD3, Q64028, Q6DIN3, Q6P5G3, Q6SPE9, Q6SPF0, Q7Z3H4, Q80TY4, Q810T5, Q8BLB7, Q8C8Y5, Q8CFC2, Q8CHP6
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 16 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 |
|---|---|---|---|
| Regulation of PTEN gene transcription | 5 | 89.2× | 8e-08 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
149 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 123 |
| Likely benign | 8 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
5779 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 10:7163907:TATC:T | acceptor_gain | 1.0000 |
| 10:7163908:ATCCT:A | acceptor_loss | 1.0000 |
| 10:7163909:TC:T | acceptor_gain | 1.0000 |
| 10:7163909:TCCTG:T | acceptor_loss | 1.0000 |
| 10:7163910:CC:C | acceptor_gain | 1.0000 |
| 10:7163910:CCTGC:C | acceptor_loss | 1.0000 |
| 10:7163911:C:CA | acceptor_loss | 1.0000 |
| 10:7163911:C:CC | acceptor_gain | 1.0000 |
| 10:7163912:T:G | acceptor_loss | 1.0000 |
| 10:7171935:T:TA | donor_gain | 1.0000 |
| 10:7172155:TTTC:T | acceptor_gain | 1.0000 |
| 10:7172157:TC:T | acceptor_gain | 1.0000 |
| 10:7172158:CC:C | acceptor_gain | 1.0000 |
| 10:7172159:C:CA | acceptor_loss | 1.0000 |
| 10:7172160:T:C | acceptor_loss | 1.0000 |
| 10:7172491:ATACC:A | donor_loss | 1.0000 |
| 10:7172492:TACCT:T | donor_loss | 1.0000 |
| 10:7172493:ACCTC:A | donor_gain | 1.0000 |
| 10:7172494:C:A | donor_loss | 1.0000 |
| 10:7172494:CCTCC:C | donor_gain | 1.0000 |
| 10:7172496:T:TA | donor_gain | 1.0000 |
| 10:7172497:C:A | donor_gain | 1.0000 |
| 10:7172533:T:TA | donor_gain | 1.0000 |
| 10:7172657:ATAGG:A | acceptor_gain | 1.0000 |
| 10:7172658:TAGG:T | acceptor_gain | 1.0000 |
| 10:7172659:AGG:A | acceptor_gain | 1.0000 |
| 10:7172660:GG:G | acceptor_gain | 1.0000 |
| 10:7172661:GCTG:G | acceptor_loss | 1.0000 |
| 10:7172662:C:CC | acceptor_gain | 1.0000 |
| 10:7172663:T:G | acceptor_loss | 1.0000 |
AlphaMissense
5851 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 10:7163791:G:C | F888L | 1.000 |
| 10:7163791:G:T | F888L | 1.000 |
| 10:7163793:A:G | F888L | 1.000 |
| 10:7163804:A:T | V884D | 1.000 |
| 10:7163825:A:G | L877S | 1.000 |
| 10:7163834:G:T | A874D | 1.000 |
| 10:7163835:C:G | A874P | 1.000 |
| 10:7163841:C:G | G872R | 1.000 |
| 10:7163841:C:T | G872R | 1.000 |
| 10:7163849:A:G | L869P | 1.000 |
| 10:7163882:A:G | L858P | 1.000 |
| 10:7163885:A:G | L857P | 1.000 |
| 10:7163888:A:G | L856P | 1.000 |
| 10:7163891:A:G | L855P | 1.000 |
| 10:7163900:C:A | G852V | 1.000 |
| 10:7163900:C:T | G852D | 1.000 |
| 10:7163901:C:A | G852C | 1.000 |
| 10:7163901:C:G | G852R | 1.000 |
| 10:7171000:C:A | W824C | 1.000 |
| 10:7171000:C:G | W824C | 1.000 |
| 10:7171002:A:G | W824R | 1.000 |
| 10:7171002:A:T | W824R | 1.000 |
| 10:7171010:G:T | P821Q | 1.000 |
| 10:7367765:C:G | R107P | 1.000 |
| 10:7367811:A:G | W92R | 1.000 |
| 10:7367811:A:T | W92R | 1.000 |
| 10:7163796:C:G | A887P | 0.999 |
| 10:7163800:T:A | K885N | 0.999 |
| 10:7163800:T:G | K885N | 0.999 |
| 10:7163821:G:C | C878W | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000003150 (10:7342905 A>G), RS1000019145 (10:7377415 C>T), RS1000022720 (10:7399307 A>C,T), RS1000035936 (10:7311324 C>G), RS1000042445 (10:7249396 G>A,T), RS1000045888 (10:7225565 C>G), RS1000081700 (10:7299944 A>T), RS1000088771 (10:7189627 G>A,T), RS1000090588 (10:7160886 G>A,C), RS1000113852 (10:7270195 G>C), RS1000115108 (10:7370407 A>G), RS1000125328 (10:7267970 G>A), RS1000136377 (10:7305231 T>C), RS1000144770 (10:7302437 G>A), RS1000145567 (10:7296007 A>G)
Disease associations
OMIM: gene MIM:615392 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
6 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001526_18 | Fasting blood insulin (BMI interaction) | 3.000000e-06 |
| GCST007824_7 | Monoclonal gammopathy of undetermined significance | 7.000000e-06 |
| GCST007995_29 | Asthma (childhood onset) | 8.000000e-14 |
| GCST010266_8 | Femoral neck bone mineral density and trunk fat mass adjusted by trunk lean mass | 3.000000e-07 |
| GCST010268_3 | Femoral neck bone mineral density | 6.000000e-08 |
| GCST012490_304 | Femur bone mineral density x serum urate levels interaction | 9.000000e-10 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004340 | body mass index |
| EFO:0007785 | femoral neck bone mineral density |
| EFO:0004531 | urate measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
52 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression | 5 |
| trichostatin A | affects cotreatment, increases expression | 3 |
| sodium arsenite | increases abundance, decreases expression, affects cotreatment | 2 |
| entinostat | increases expression, affects cotreatment | 2 |
| belinostat | increases expression, affects cotreatment | 2 |
| Vorinostat | affects cotreatment, increases expression | 2 |
| Panobinostat | affects cotreatment, increases expression | 2 |
| Nickel | increases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| triphenyl phosphate | affects expression | 1 |
| propionaldehyde | increases expression | 1 |
| bisphenol A | affects cotreatment, increases methylation | 1 |
| butyraldehyde | increases expression | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| manganese chloride | decreases expression, increases abundance, affects cotreatment | 1 |
| benzo(e)pyrene | decreases methylation | 1 |
| potassium chromate(VI) | decreases expression | 1 |
| ferrous chloride | decreases expression | 1 |
| aflatoxin B2 | decreases methylation | 1 |
| pentanal | increases expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| perfluorohexanesulfonic acid | decreases expression | 1 |
| ormosil | affects binding, increases expression | 1 |
| 2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide | affects cotreatment, decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| jinfukang | decreases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
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): monoclonal gammopathy