SNRNP48
gene geneOn this page
Also known as FLJ32234dJ512B11.2dJ336K20B.1
Summary
SNRNP48 (small nuclear ribonucleoprotein U11/U12 subunit 48, HGNC:21368) is a protein-coding gene on chromosome 6p24.3, encoding U11/U12 small nuclear ribonucleoprotein 48 kDa protein (Q6IEG0). Likely involved in U12-type 5’ splice site recognition. It is a selective cancer dependency (DepMap: 36.4% of cell lines).
Predicted to enable zinc ion binding activity. Predicted to be involved in RNA splicing. Located in cytosol and nucleoplasm. Part of U12-type spliceosomal complex.
Source: NCBI Gene 154007 — RefSeq curated summary.
At a glance
- GWAS associations: 6
- Clinical variants (ClinVar): 62 total
- Cancer dependency (DepMap): dependent in 36.4% of screened cell lines
- MANE Select transcript:
NM_152551
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:21368 |
| Approved symbol | SNRNP48 |
| Name | small nuclear ribonucleoprotein U11/U12 subunit 48 |
| Location | 6p24.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ32234, dJ512B11.2, dJ336K20B.1 |
| Ensembl gene | ENSG00000168566 |
| Ensembl biotype | protein_coding |
| Entrez | 154007 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 4 protein_coding, 1 retained_intron, 1 nonsense_mediated_decay
ENST00000342415, ENST00000496946, ENST00000634363, ENST00000864978, ENST00000864979, ENST00000944524
RefSeq mRNA: 1 — MANE Select: NM_152551
NM_152551
CCDS: CCDS4502
Canonical transcript exons
ENST00000342415 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001152705 | 7601336 | 7601524 |
| ENSE00001154910 | 7595027 | 7595101 |
| ENSE00001154918 | 7594099 | 7594159 |
| ENSE00001154927 | 7593734 | 7593847 |
| ENSE00001154932 | 7590198 | 7590413 |
| ENSE00001428186 | 7608825 | 7611967 |
| ENSE00003550231 | 7605398 | 7605486 |
| ENSE00003551282 | 7606031 | 7606195 |
| ENSE00003572019 | 7602623 | 7602744 |
Expression profiles
Bgee: expression breadth ubiquitous, 244 present calls, max score 91.53.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.2232 / max 169.1686, expressed in 1794 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 65706 | 10.9125 | 1773 |
| 65705 | 3.3107 | 1476 |
Top tissues by expression
254 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| buccal mucosa cell | CL:0002336 | 91.53 | gold quality |
| tendon | UBERON:0000043 | 88.21 | gold quality |
| calcaneal tendon | UBERON:0003701 | 88.13 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 87.68 | silver quality |
| oviduct epithelium | UBERON:0004804 | 87.26 | gold quality |
| islet of Langerhans | UBERON:0000006 | 85.63 | gold quality |
| medial globus pallidus | UBERON:0002477 | 84.27 | gold quality |
| ileal mucosa | UBERON:0000331 | 83.98 | silver quality |
| cerebellar hemisphere | UBERON:0002245 | 83.28 | gold quality |
| adrenal tissue | UBERON:0018303 | 83.26 | gold quality |
| cerebellar cortex | UBERON:0002129 | 83.22 | gold quality |
| muscle of leg | UBERON:0001383 | 82.95 | gold quality |
| monocyte | CL:0000576 | 82.92 | gold quality |
| gastrocnemius | UBERON:0001388 | 82.87 | gold quality |
| leukocyte | CL:0000738 | 82.75 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 82.43 | gold quality |
| heart left ventricle | UBERON:0002084 | 82.40 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 82.38 | gold quality |
| right atrium auricular region | UBERON:0006631 | 82.34 | gold quality |
| cerebellum | UBERON:0002037 | 82.15 | gold quality |
| left ovary | UBERON:0002119 | 82.15 | gold quality |
| cardiac ventricle | UBERON:0002082 | 82.13 | gold quality |
| endothelial cell | CL:0000115 | 81.86 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 81.74 | gold quality |
| biceps brachii | UBERON:0001507 | 81.64 | gold quality |
| pancreas | UBERON:0001264 | 81.52 | gold quality |
| endocervix | UBERON:0000458 | 81.48 | gold quality |
| right ovary | UBERON:0002118 | 81.46 | gold quality |
| heart | UBERON:0000948 | 81.42 | gold quality |
| cartilage tissue | UBERON:0002418 | 81.40 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 4.38 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
118 targeting SNRNP48, 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-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-493-5P | 99.96 | 72.47 | 2382 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-144-3P | 99.94 | 73.98 | 2698 |
| HSA-MIR-548AE-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-548AH-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AM-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AQ-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-6768-5P | 99.92 | 67.36 | 1942 |
| HSA-MIR-145-5P | 99.92 | 71.13 | 1836 |
| HSA-MIR-5195-3P | 99.92 | 70.92 | 1877 |
| HSA-MIR-1297 | 99.91 | 73.41 | 3162 |
| HSA-MIR-5680 | 99.91 | 69.83 | 3421 |
| HSA-MIR-329-3P | 99.91 | 66.56 | 1234 |
| HSA-MIR-362-3P | 99.91 | 66.38 | 1267 |
| HSA-MIR-10527-5P | 99.91 | 72.28 | 3754 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 36.4% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 2)
- RNA interference-induced knockdown of 48K led to reduced cell growth and the inhibition of U12-type splicing, as well as the activation of cryptic, U2-type splice sites, suggesting that 48K plays a critical role in U12-type intron recognition. (PMID:18347052)
- A model in which the U11-48K Zn finger stabilizes U11-5’ splice site base pairing and thus plays an important role during the minor spliceosome assembly. (PMID:19217400)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | snrnp48 | ENSDARG00000039989 |
| mus_musculus | Snrnp48 | ENSMUSG00000021431 |
| rattus_norvegicus | Snrnp48 | ENSRNOG00000013756 |
Paralogs (2): GTSF1L (ENSG00000124196), GTSF1 (ENSG00000170627)
Protein
Protein identifiers
U11/U12 small nuclear ribonucleoprotein 48 kDa protein — Q6IEG0 (reviewed: Q6IEG0)
All UniProt accessions (2): Q6IEG0, A0A0U1RQZ2
UniProt curated annotations — full annotation on UniProt →
Function. Likely involved in U12-type 5’ splice site recognition.
Subunit / interactions. Component of the U11/U12 snRNPs that are part of the U12-type spliceosome. Not found in the major spliceosome.
Subcellular location. Nucleus.
Domain organisation. The CHHC region interacts with the 5’ splice site of the U12-type intron.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q6IEG0-1 | 1 | yes |
| Q6IEG0-2 | 2 |
RefSeq proteins (1): NP_689764* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR022776 | TRM13/UPF0224_CHHC_Znf_dom | Domain |
| IPR036236 | Znf_C2H2_sf | Homologous_superfamily |
| IPR051591 | UPF0224_FAM112_RNA_Proc | Family |
Pfam: PF05253
UniProt features (38 total): helix 12, strand 7, binding site 4, compositionally biased region 3, cross-link 2, splice variant 2, sequence variant 2, turn 2, chain 1, zinc finger region 1, sequence conflict 1, region of interest 1
Structure
Experimental structures (PDB)
7 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9GCL | ELECTRON MICROSCOPY | 3 |
| 9GC0 | ELECTRON MICROSCOPY | 3.2 |
| 8Y6O | ELECTRON MICROSCOPY | 3.38 |
| 8R7N | ELECTRON MICROSCOPY | 3.4 |
| 9GBW | ELECTRON MICROSCOPY | 3.5 |
| 2VY4 | SOLUTION NMR | |
| 2VY5 | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6IEG0-F1 | 71.67 | 0.13 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (4): 58; 64; 74; 78
Post-translational modifications (2): 87, 104
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-72165 | mRNA Splicing - Minor Pathway |
| R-HSA-72172 | mRNA Splicing |
| R-HSA-72203 | Processing of Capped Intron-Containing Pre-mRNA |
| R-HSA-8953854 | Metabolism of RNA |
MSigDB gene sets: 88 (showing top):
MIDORIKAWA_AMPLIFIED_IN_LIVER_CANCER, chr6p24, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, REACTOME_PROCESSING_OF_CAPPED_INTRON_CONTAINING_PRE_MRNA, GOBP_PROTEIN_RNA_COMPLEX_ORGANIZATION, GOBP_RNA_SPLICING, LIAO_METASTASIS, REACTOME_MRNA_SPLICING, GOBP_RIBONUCLEOPROTEIN_COMPLEX_BIOGENESIS, MILI_PSEUDOPODIA_CHEMOTAXIS_DN, REACTOME_METABOLISM_OF_RNA, GOCC_PRECATALYTIC_SPLICEOSOME, MARSON_BOUND_BY_E2F4_UNSTIMULATED
GO Biological Process (2): mRNA processing (GO:0006397), RNA splicing (GO:0008380)
GO Molecular Function (3): zinc ion binding (GO:0008270), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (5): nucleoplasm (GO:0005654), U12-type spliceosomal complex (GO:0005689), cytosol (GO:0005829), nucleus (GO:0005634), spliceosomal complex (GO:0005681)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| mRNA Splicing | 1 |
| Processing of Capped Intron-Containing Pre-mRNA | 1 |
| Metabolism of RNA | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| RNA processing | 2 |
| cellular anatomical structure | 2 |
| mRNA metabolic process | 1 |
| transition metal ion binding | 1 |
| binding | 1 |
| cation binding | 1 |
| nuclear lumen | 1 |
| spliceosomal complex | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear protein-containing complex | 1 |
| ribonucleoprotein complex | 1 |
Protein interactions and networks
STRING
1408 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SNRNP48 | RNPC3 | Q96LT9 | 809 |
| SNRNP48 | SNRNP25 | Q9BV90 | 809 |
| SNRNP48 | SNRNP35 | Q16560 | 784 |
| SNRNP48 | ZMAT5 | Q9UDW3 | 709 |
| SNRNP48 | ZCRB1 | Q8TBF4 | 686 |
| SNRNP48 | PDCD7 | Q8N8D1 | 643 |
| SNRNP48 | GTSF1 | Q8WW33 | 515 |
| SNRNP48 | ZRSR2 | Q15696 | 513 |
| SNRNP48 | SNRPC | P09234 | 465 |
| SNRNP48 | CWC25 | Q9NXE8 | 428 |
| SNRNP48 | PCMTD2 | Q9NV79 | 422 |
| SNRNP48 | CENATAC | Q86UT8 | 419 |
| SNRNP48 | TMEM44 | Q2T9K0 | 413 |
| SNRNP48 | GTSF1L | Q9H1H1 | 407 |
| SNRNP48 | SAYSD1 | Q9NPB0 | 397 |
| SNRNP48 | RUFY4 | Q6ZNE9 | 397 |
IntAct
56 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SNRPE | GEMIN2 | psi-mi:“MI:0914”(association) | 0.770 |
| ZRSR2 | SF3B1 | psi-mi:“MI:0914”(association) | 0.730 |
| SNRPD2 | GEMIN2 | psi-mi:“MI:0914”(association) | 0.710 |
| SNRPG | GEMIN2 | psi-mi:“MI:0914”(association) | 0.710 |
| SNRPB | PRMT5 | psi-mi:“MI:0914”(association) | 0.670 |
| SF3B1 | SAP18 | psi-mi:“MI:0914”(association) | 0.640 |
| ZCRB1 | SF3B1 | psi-mi:“MI:0914”(association) | 0.640 |
| SNRNP48 | ENKD1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SNRNP48 | CDCA7L | psi-mi:“MI:0915”(physical association) | 0.560 |
| UBASH3A | SNRNP48 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SNRNP48 | SPRED1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SNRPE | PRMT5 | psi-mi:“MI:0914”(association) | 0.530 |
| SNRPN | PRMT5 | psi-mi:“MI:0914”(association) | 0.530 |
| ZCRB1 | DKC1 | psi-mi:“MI:0914”(association) | 0.530 |
| ZMAT5 | DENND4B | psi-mi:“MI:0914”(association) | 0.530 |
| SNRPE | SNRPGP15 | psi-mi:“MI:0914”(association) | 0.530 |
| SNRPF | SNRPGP15 | psi-mi:“MI:0914”(association) | 0.530 |
| ELOVL6 | SNRNP48 | psi-mi:“MI:0915”(physical association) | 0.400 |
| Rab11fip1 | ZKSCAN1 | psi-mi:“MI:0914”(association) | 0.350 |
| NCBP3 | RSL1D1 | psi-mi:“MI:0914”(association) | 0.350 |
| SNRPGP15 | GEMIN2 | psi-mi:“MI:0914”(association) | 0.350 |
| SNRPF | GEMIN2 | psi-mi:“MI:0914”(association) | 0.350 |
| ZRSR2 | U2SURP | psi-mi:“MI:0914”(association) | 0.350 |
| SNRNP35 | SNRNP48 | psi-mi:“MI:0914”(association) | 0.350 |
| rep | CPNE3 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (64): SNRNP48 (Affinity Capture-MS), SNRNP48 (Affinity Capture-MS), SNRNP48 (Affinity Capture-MS), SNRNP48 (Affinity Capture-MS), SNRNP48 (Affinity Capture-MS), SNRNP48 (Affinity Capture-MS), SNRNP48 (Affinity Capture-MS), SNRNP48 (Affinity Capture-MS), SNRNP48 (Affinity Capture-MS), SNRNP48 (Affinity Capture-MS), SNRNP48 (Affinity Capture-MS), SNRNP48 (Affinity Capture-MS), SNRNP48 (Affinity Capture-MS), SNRNP48 (Affinity Capture-MS), SNRNP48 (Two-hybrid)
ESM2 similar proteins: A0AUP1, A4II15, A7MCB7, E1C760, F6RRD7, F7AEX0, P14629, P78316, Q1L8X2, Q28DG8, Q2IA00, Q3T071, Q3U155, Q3ZCI6, Q4R6T7, Q4R8R3, Q4R8V8, Q4V7N4, Q5PQS7, Q5R939, Q5RA37, Q5XI65, Q5ZIH9, Q5ZIM6, Q6DFL5, Q6IEG0, Q6PBE2, Q6PII3, Q7SYB2, Q7ZXA8, Q80VN0, Q8C6C7, Q8C9J3, Q8CIL4, Q8IXW5, Q8R3N1, Q8R3N6, Q8VYD3, Q93VM9, Q95JM8
Diamond homologs: Q6IEG0, Q9D361
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 46 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 |
|---|---|---|---|
| Metabolism of non-coding RNA | 7 | 143.3× | 2e-13 |
| mRNA Splicing - Minor Pathway | 12 | 86.7× | 2e-19 |
| snRNP Assembly | 8 | 54.6× | 1e-11 |
| SARS-CoV-2 modulates host translation machinery | 7 | 50.6× | 4e-10 |
| mRNA Splicing | 11 | 39.0× | 3e-14 |
| CHD1 and CHD2 subfamily | 11 | 38.6× | 3e-14 |
| mRNA Polyadenylation | 13 | 36.8× | 2e-16 |
| RNA Polymerase II Transcription Termination | 5 | 35.4× | 1e-06 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| U2-type prespliceosome assembly | 10 | 148.6× | 2e-18 |
| spliceosomal snRNP assembly | 8 | 110.7× | 1e-13 |
| spliceosomal complex assembly | 6 | 86.0× | 1e-09 |
| mRNA splicing, via spliceosome | 16 | 34.9× | 4e-19 |
| RNA splicing | 14 | 29.4× | 6e-16 |
| mRNA processing | 5 | 9.4× | 4e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
62 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 49 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1792 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:7590348:G:GT | donor_gain | 1.0000 |
| 6:7593722:T:TA | acceptor_gain | 1.0000 |
| 6:7593731:T:G | acceptor_gain | 1.0000 |
| 6:7593731:TAGG:T | acceptor_loss | 1.0000 |
| 6:7593843:AAGAG:A | donor_loss | 1.0000 |
| 6:7593845:G:GT | donor_gain | 1.0000 |
| 6:7593845:GAG:G | donor_gain | 1.0000 |
| 6:7593846:AGG:A | donor_loss | 1.0000 |
| 6:7593847:GGT:G | donor_loss | 1.0000 |
| 6:7594155:TTTGA:T | donor_gain | 1.0000 |
| 6:7594156:TTGA:T | donor_gain | 1.0000 |
| 6:7594157:TGA:T | donor_gain | 1.0000 |
| 6:7594157:TGAG:T | donor_loss | 1.0000 |
| 6:7594158:GA:G | donor_gain | 1.0000 |
| 6:7594158:GAG:G | donor_gain | 1.0000 |
| 6:7594159:AGTA:A | donor_loss | 1.0000 |
| 6:7594160:G:C | donor_loss | 1.0000 |
| 6:7594160:G:GG | donor_gain | 1.0000 |
| 6:7594161:T:G | donor_loss | 1.0000 |
| 6:7594162:AA:A | donor_loss | 1.0000 |
| 6:7595023:ACAG:A | acceptor_loss | 1.0000 |
| 6:7595024:CA:C | acceptor_loss | 1.0000 |
| 6:7595025:A:AG | acceptor_gain | 1.0000 |
| 6:7595025:A:T | acceptor_loss | 1.0000 |
| 6:7595026:G:GG | acceptor_gain | 1.0000 |
| 6:7595026:GATAA:G | acceptor_gain | 1.0000 |
| 6:7595098:CAAAG:C | donor_loss | 1.0000 |
| 6:7595100:AA:A | donor_gain | 1.0000 |
| 6:7595100:AAG:A | donor_loss | 1.0000 |
| 6:7595101:AGT:A | donor_loss | 1.0000 |
AlphaMissense
2260 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:7602686:G:C | R220T | 1.000 |
| 6:7602687:A:C | R220S | 1.000 |
| 6:7602687:A:T | R220S | 1.000 |
| 6:7602689:G:C | R221T | 1.000 |
| 6:7602690:A:C | R221S | 1.000 |
| 6:7602690:A:T | R221S | 1.000 |
| 6:7602705:A:C | R226S | 1.000 |
| 6:7602705:A:T | R226S | 1.000 |
| 6:7602664:G:C | A213P | 0.999 |
| 6:7602674:G:C | R216P | 0.999 |
| 6:7602676:G:C | D217H | 0.999 |
| 6:7602678:T:A | D217E | 0.999 |
| 6:7602678:T:G | D217E | 0.999 |
| 6:7602684:A:C | K219N | 0.999 |
| 6:7602684:A:T | K219N | 0.999 |
| 6:7602686:G:T | R220I | 0.999 |
| 6:7602688:A:G | R221G | 0.999 |
| 6:7602689:G:T | R221I | 0.999 |
| 6:7602691:C:A | R222S | 0.999 |
| 6:7602700:T:C | Y225H | 0.999 |
| 6:7602700:T:G | Y225D | 0.999 |
| 6:7602703:A:G | R226G | 0.999 |
| 6:7602704:G:C | R226T | 0.999 |
| 6:7602707:C:A | A227D | 0.999 |
| 6:7602711:G:C | K228N | 0.999 |
| 6:7602711:G:T | K228N | 0.999 |
| 6:7602716:T:A | V230D | 0.999 |
| 6:7605405:G:C | R242P | 0.999 |
| 6:7602677:A:C | D217A | 0.998 |
| 6:7602677:A:T | D217V | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000131141 (6:7602151 C>T), RS1000151217 (6:7590067 A>G), RS1000160496 (6:7602413 A>G), RS1000192638 (6:7597405 C>T), RS1000240935 (6:7601858 TG>T), RS1000313400 (6:7596241 G>A), RS1000409860 (6:7609431 T>G), RS1000454458 (6:7596498 T>A,C), RS1000601826 (6:7608429 C>T), RS1000844132 (6:7609685 A>G,T), RS1001154598 (6:7591008 G>A,C), RS1001221919 (6:7596114 A>T), RS1001352202 (6:7601812 C>G), RS1001454615 (6:7608836 G>T), RS1001483129 (6:7595775 G>A)
Disease associations
OMIM: gene `` | disease phenotypes: MIM:605676, MIM:607450
GenCC curated gene-disease
Mondo (2): arrhythmogenic cardiomyopathy with wooly hair and keratoderma (MONDO:0011581), arrhythmogenic right ventricular dysplasia 8 (MONDO:0011831)
Orphanet (1): Carvajal syndrome (Orphanet:65282)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
6 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001762_276 | Obesity-related traits | 9.000000e-06 |
| GCST008839_581 | Height | 2.000000e-12 |
| GCST009391_351 | Metabolite levels | 8.000000e-06 |
| GCST009391_912 | Metabolite levels | 7.000000e-06 |
| GCST012282_5 | BMI x environmental factors (excluding physical activity) interaction | 9.000000e-06 |
| GCST012283_3 | BMI x environmental factors (including physical activity) interaction | 7.000000e-07 |
EFO canonical traits (11, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005106 | body composition measurement |
| EFO:0010433 | triacylglycerol 56:6 measurement |
| EFO:0010442 | triacylglycerol 58:8 measurement |
| EFO:0004340 | body mass index |
| EFO:0006527 | smoking status measurement |
| EFO:0009374 | energy intake measurement |
| EFO:0009695 | household income |
| EFO:0010810 | protein intake measurement |
| EFO:0010811 | carbohydrate intake measurement |
| EFO:0011015 | educational attainment |
| EFO:0008002 | physical activity measurement |
MeSH disease descriptors (2)
| Descriptor | Name | Tree numbers |
|---|---|---|
| C564400 | Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 (supp.) | |
| C535581 | Cardiomyopathy dilated with woolly hair and keratoderma (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
19 total (human), top 19 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | decreases expression, increases expression | 4 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression, increases expression | 2 |
| Cyclosporine | decreases expression | 2 |
| TAK-243 | increases sumoylation | 1 |
| methylmercuric chloride | increases expression | 1 |
| trichostatin A | affects expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| versicolorin A | increases expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Bortezomib | increases expression | 1 |
| Benzo(a)pyrene | affects methylation, decreases methylation | 1 |
| Carbamazepine | affects expression | 1 |
| Ethyl Methanesulfonate | increases expression | 1 |
| Fluorouracil | decreases expression | 1 |
| Formaldehyde | increases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Aflatoxin B1 | increases methylation | 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): arrhythmogenic cardiomyopathy with wooly hair and keratoderma, arrhythmogenic right ventricular dysplasia 8