MBNL2
gene geneOn this page
Also known as MBLLMBLL39
Summary
MBNL2 (muscleblind like splicing regulator 2, HGNC:16746) is a protein-coding gene on chromosome 13q32.1, encoding Muscleblind-like protein 2 (Q5VZF2). Mediates pre-mRNA alternative splicing regulation.
This gene is a member of the muscleblind protein family which was initially described in Drosophila melanogaster. This gene encodes a C3H-type zinc finger protein that modulates alternative splicing of pre-mRNAs. Muscleblind proteins bind specifically to expanded dsCUG RNA but not to normal size CUG repeats and may thereby play a role in the pathophysiology of myotonic dystrophy. Several alternatively spliced transcript variants have been described but the full-length natures of only some have been determined.
Source: NCBI Gene 10150 — RefSeq curated summary.
At a glance
- GWAS associations: 11
- Clinical variants (ClinVar): 36 total
- MANE Select transcript:
NM_001382683
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16746 |
| Approved symbol | MBNL2 |
| Name | muscleblind like splicing regulator 2 |
| Location | 13q32.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MBLL, MBLL39 |
| Ensembl gene | ENSG00000139793 |
| Ensembl biotype | protein_coding |
| OMIM | 607327 |
| Entrez | 10150 |
Gene structure
Transcript identifiers
Ensembl transcripts: 21 — 20 protein_coding, 1 nonsense_mediated_decay
ENST00000343600, ENST00000345429, ENST00000376673, ENST00000397601, ENST00000449284, ENST00000469707, ENST00000679496, ENST00000685165, ENST00000692685, ENST00000704364, ENST00000704373, ENST00000899849, ENST00000899850, ENST00000899851, ENST00000899852, ENST00000899853, ENST00000899854, ENST00000899855, ENST00000944724, ENST00000944725, ENST00000944726
RefSeq mRNA: 45 — MANE Select: NM_001382683
NM_001306070, NM_001382649, NM_001382650, NM_001382651, NM_001382652, NM_001382653, NM_001382654, NM_001382656, NM_001382660, NM_001382661, NM_001382663, NM_001382666, NM_001382667, NM_001382668, NM_001382669, NM_001382670, NM_001382671, NM_001382672, NM_001382673, NM_001382674, NM_001382675, NM_001382676, NM_001382677, NM_001382678, NM_001382679, NM_001382680, NM_001382681, NM_001382682, NM_001382683, NM_001382684, NM_001382685, NM_001382686, NM_001382687, NM_001382688, NM_001382689, NM_001382690, NM_001382691, NM_001382692, NM_001382693, NM_001382694, NM_001382695, NM_001382696, NM_001382697, NM_144778, NM_207304
CCDS: CCDS76644, CCDS91823, CCDS91824, CCDS91825, CCDS9483, CCDS9484
Canonical transcript exons
ENST00000679496 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001366583 | 97346804 | 97347067 |
| ENSE00001654828 | 97343016 | 97343216 |
| ENSE00001719168 | 97334276 | 97334440 |
| ENSE00002718246 | 97275632 | 97276409 |
| ENSE00003541358 | 97357482 | 97357635 |
| ENSE00003639197 | 97391322 | 97394120 |
| ENSE00003915428 | 97222333 | 97222531 |
| ENSE00003991510 | 97365136 | 97365171 |
| ENSE00003991542 | 97356796 | 97356849 |
Expression profiles
Bgee: expression breadth ubiquitous, 292 present calls, max score 99.18.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 60.3827 / max 1519.6763, expressed in 1778 samples.
FANTOM5 promoters (9 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 135720 | 57.4061 | 1775 |
| 135718 | 1.5266 | 399 |
| 135722 | 0.4801 | 243 |
| 135723 | 0.4183 | 151 |
| 135726 | 0.2443 | 105 |
| 135724 | 0.1308 | 27 |
| 135733 | 0.0812 | 26 |
| 135721 | 0.0620 | 14 |
| 135725 | 0.0333 | 10 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| endothelial cell | CL:0000115 | 99.18 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 98.50 | gold quality |
| heart right ventricle | UBERON:0002080 | 98.44 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 98.43 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 98.35 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 98.34 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 98.29 | gold quality |
| pons | UBERON:0000988 | 98.26 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 98.14 | gold quality |
| cranial nerve II | UBERON:0000941 | 98.03 | gold quality |
| corpus callosum | UBERON:0002336 | 97.98 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 97.94 | gold quality |
| biceps brachii | UBERON:0001507 | 97.87 | gold quality |
| inferior olivary complex | UBERON:0002127 | 97.81 | gold quality |
| superficial temporal artery | UBERON:0001614 | 97.60 | gold quality |
| medulla oblongata | UBERON:0001896 | 97.60 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 97.40 | gold quality |
| postcentral gyrus | UBERON:0002581 | 97.38 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 97.36 | gold quality |
| parietal lobe | UBERON:0001872 | 97.34 | gold quality |
| periodontal ligament | UBERON:0008266 | 97.15 | gold quality |
| CA1 field of hippocampus | UBERON:0003881 | 97.12 | gold quality |
| cauda epididymis | UBERON:0004360 | 97.01 | gold quality |
| calcaneal tendon | UBERON:0003701 | 96.98 | gold quality |
| ventral tegmental area | UBERON:0002691 | 96.91 | gold quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 96.83 | gold quality |
| saphenous vein | UBERON:0007318 | 96.81 | gold quality |
| entorhinal cortex | UBERON:0002728 | 96.69 | gold quality |
| seminal vesicle | UBERON:0000998 | 96.60 | gold quality |
| occipital lobe | UBERON:0002021 | 96.58 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 10.04 |
| E-CURD-10 | no | 497.63 |
| E-GEOD-81608 | no | 4.67 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): GATA3
miRNA regulators (miRDB)
348 targeting MBNL2, 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-5193 | 100.00 | 67.26 | 1744 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-4510 | 100.00 | 66.60 | 2050 |
| HSA-MIR-6127 | 100.00 | 66.76 | 2188 |
| HSA-MIR-6129 | 100.00 | 66.46 | 2080 |
| HSA-MIR-6130 | 100.00 | 66.69 | 2012 |
| HSA-MIR-6133 | 100.00 | 66.48 | 2064 |
| HSA-MIR-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-7110-3P | 100.00 | 73.18 | 2486 |
Literature-anchored findings (GeneRIF, showing 12)
- MBNL proteins promote opposite splicing patterns for cardiac troponin T and insulin receptor alternative exons (PMID:15257297)
- MBNL1 and MBNL2 always co-distributed. Functional differences between MBNL1 and MBNL2 have not yet been found (PMID:19095965)
- solution structures of both tandem zinc finger (TZF) motifs, TZF12 (comprising ZF1 and ZF2) and TZF34 (ZF3 and ZF4), in MBNL2 (PMID:19177353)
- We propose that major pathological features of the myotonic dystrophy brain result from disruption of the MBNL2-mediated developmental splicing program (PMID:22884328)
- consistent with a central and negative regulatory role for MBNL proteins in pluripotency, their knockdown significantly enhances the expression of key pluripotency genes and the formation of induced pluripotent stem cells during somatic cell reprogramming (PMID:23739326)
- both MBNL1 and MBNL2 are involved in the regulation of Tau exon 2 splicing and the mis-splicing of Tau in DM1 is due to the combined inactivation of both (PMID:24440524)
- Sense DMPK RNA foci clearly co-localize with MBNL1 and MBNL2 proteins and accumulate in myotonic dystrophy 1 tissues during development. (PMID:26339785)
- Low MBNL2 expression is associated with hepatocellular carcinoma growth and invasion. (PMID:27564110)
- Functional depletion of the alternative splicing factors Muscleblind-like (MBNL 1 and 2) is at the basis of the neuromuscular disease myotonic dystrophy type 1 (DM1). Here, we screen for miRNAs that regulate MBNL1 and MBNL2 in HeLa cells. We thus identify miR-23b and miR-218, and confirm that they downregulate MBNL proteins in this cell line. (PMID:29946070)
- MBNL2 induction was critical for hypoxia adaptation by controlling the transcript abundance of hypoxia response genes, such as vascular endothelial growth factor A (VEGFA) MBNL2 depletion reduced the proliferation and migration of cancer cells, demonstrating an important role of MBNL2 as cancer driver. (PMID:32127384)
- SNPs in SNCA, MCCC1, DLG2, GBF1 and MBNL2 are associated with Parkinson’s disease in southern Chinese population. (PMID:32652860)
- MBNL2 Regulates DNA Damage Response via Stabilizing p21. (PMID:33466733)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mbnl2 | ENSDARG00000018460 |
| mus_musculus | Mbnl2 | ENSMUSG00000022139 |
| rattus_norvegicus | Mbnl2 | ENSRNOG00000010737 |
| drosophila_melanogaster | mbl | FBGN0265487 |
| caenorhabditis_elegans | WBGENE00019347 |
Paralogs (3): MBNL3 (ENSG00000076770), ZC3H10 (ENSG00000135482), MBNL1 (ENSG00000152601)
Protein
Protein identifiers
Muscleblind-like protein 2 — Q5VZF2 (reviewed: Q5VZF2)
Alternative names: Muscleblind-like protein 1, Muscleblind-like protein-like, Muscleblind-like protein-like 39
All UniProt accessions (9): Q5VZF2, A0A7P0T9I3, A0A8I5KU79, A0A8I5KYZ5, A0A994J506, A0A994J509, A2A3S3, O95205, Q5JSC0
UniProt curated annotations — full annotation on UniProt →
Function. Mediates pre-mRNA alternative splicing regulation. Acts either as activator or repressor of splicing on specific pre-mRNA targets. Inhibits cardiac troponin-T (TNNT2) pre-mRNA exon inclusion but induces insulin receptor (IR) pre-mRNA exon inclusion in muscle. Antagonizes the alternative splicing activity pattern of CELF proteins. RNA-binding protein that binds to 5’ACACCC-3’ core sequence, termed zipcode, within the 3’UTR of ITGA3. Binds to CUG triplet repeat expansion in myotonic dystrophy muscle cells by sequestering the target RNAs. Together with RNA binding proteins RBPMS and RBFOX2, activates vascular smooth muscle cells alternative splicing events. Regulates NCOR2 alternative splicing. Seems to regulate expression and localization of ITGA3 by transporting it from the nucleus to cytoplasm at adhesion plaques. May play a role in myotonic dystrophy pathophysiology (DM).
Subunit / interactions. Interacts with ITGA3.
Subcellular location. Nucleus. Cytoplasm.
Tissue specificity. Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.
Similarity. Belongs to the muscleblind family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q5VZF2-1 | 1 | yes |
| Q5VZF2-2 | 2 | |
| Q5VZF2-3 | 3 |
RefSeq proteins (45): NP_001292999, NP_001369578, NP_001369579, NP_001369580, NP_001369581, NP_001369582, NP_001369583, NP_001369585, NP_001369589, NP_001369590, NP_001369592, NP_001369595, NP_001369596, NP_001369597, NP_001369598, NP_001369599, NP_001369600, NP_001369601, NP_001369602, NP_001369603, NP_001369604, NP_001369605, NP_001369606, NP_001369607, NP_001369608, NP_001369609, NP_001369610, NP_001369611, NP_001369612, NP_001369613, NP_001369614, NP_001369615, NP_001369616, NP_001369617, NP_001369618, NP_001369619, NP_001369620, NP_001369621, NP_001369622, NP_001369623, NP_001369624, NP_001369625, NP_001369626, NP_659002, NP_997187 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000571 | Znf_CCCH | Domain |
| IPR054429 | Znf-CCCH_Muscleblind-like | Domain |
Pfam: PF00642, PF22628
UniProt features (24 total): strand 7, helix 7, zinc finger region 4, turn 2, splice variant 2, chain 1, sequence conflict 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2E5S | SOLUTION NMR | |
| 2RPP | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q5VZF2-F1 | 65.76 | 0.24 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 379 (showing top):
ATF_B, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, MULLIGHAN_NPM1_SIGNATURE_3_UP, FREAC2_01, FISCHER_G1_S_CELL_CYCLE, NKX25_02, AMIT_EGF_RESPONSE_60_HELA, GCANCTGNY_MYOD_Q6, TTTGTAG_MIR520D, TATTATA_MIR374, TAL1ALPHAE47_01, HNF1_Q6, CAGCTG_AP4_Q5, NKX61_01, CREB_Q4
GO Biological Process (3): mRNA processing (GO:0006397), RNA splicing (GO:0008380), regulation of RNA splicing (GO:0043484)
GO Molecular Function (5): RNA binding (GO:0003723), zinc ion binding (GO:0008270), sequence-specific double-stranded DNA binding (GO:1990837), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (3): nucleoplasm (GO:0005654), cytoplasm (GO:0005737), nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| RNA processing | 2 |
| cellular anatomical structure | 2 |
| mRNA metabolic process | 1 |
| RNA splicing | 1 |
| regulation of gene expression | 1 |
| regulation of primary metabolic process | 1 |
| nucleic acid binding | 1 |
| transition metal ion binding | 1 |
| double-stranded DNA binding | 1 |
| sequence-specific DNA binding | 1 |
| binding | 1 |
| cation binding | 1 |
| nuclear lumen | 1 |
| intracellular anatomical structure | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
1114 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MBNL2 | CNBP | P20694 | 972 |
| MBNL2 | CELF1 | Q92879 | 906 |
| MBNL2 | CLCN1 | P35523 | 901 |
| MBNL2 | QKI | Q96PU8 | 890 |
| MBNL2 | DMPK | Q09013 | 850 |
| MBNL2 | MBNL3 | Q9NUK0 | 646 |
| MBNL2 | CELF2 | O95319 | 646 |
| MBNL2 | CELF3 | Q5SZQ8 | 617 |
| MBNL2 | RBFOX2 | O43251 | 607 |
| MBNL2 | ADAR | P55265 | 603 |
| MBNL2 | CEBPD | P49716 | 598 |
| MBNL2 | ZNF609 | O15014 | 592 |
| MBNL2 | ATP2A1 | O14983 | 585 |
| MBNL2 | MBNL1 | Q9NR56 | 581 |
| MBNL2 | RBFOX1 | Q9NWB1 | 576 |
IntAct
4 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MBNL2 | ACOX1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| MBNL1 | MBNL2 | psi-mi:“MI:0914”(association) | 0.350 |
| MBNL2 | prmC | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (38): MBNL2 (Affinity Capture-RNA), MBNL2 (Affinity Capture-RNA), MBNL2 (Affinity Capture-MS), MBNL2 (Affinity Capture-MS), MBNL2 (Affinity Capture-MS), ACOX1 (Affinity Capture-MS), MBNL2 (Affinity Capture-MS), MBNL2 (Affinity Capture-MS), ACOX1 (Affinity Capture-MS), MBNL2 (Affinity Capture-RNA), MBNL2 (Two-hybrid), TIAL1 (Two-hybrid), MBNL2 (Proximity Label-MS), MBNL2 (Proximity Label-MS), MBNL2 (Proximity Label-MS)
ESM2 similar proteins: A0A8I6B1J2, A0AV96, A8XND8, B3M3R5, B3NGA1, B4HUE4, B4IX08, B4KX02, B4LFQ9, B4MM23, B4PIS2, B4QRJ0, F2Z3T4, G5EFF1, O01367, P16914, P31367, Q0V9L3, Q24312, Q32NN2, Q56V19, Q5R4F5, Q5R5P4, Q5VZF2, Q5W9D5, Q5W9D6, Q5W9D7, Q5ZKW9, Q66H68, Q6IRN2, Q6P0D0, Q6P104, Q6Q2B2, Q7JJZ8, Q7TSY6, Q8C181, Q8MSV2, Q8R003, Q8R205, Q91WT8
Diamond homologs: A0A8I6B1J2, A8XND8, F2Z3T4, O16011, Q0JD07, Q56V19, Q5R4F5, Q5VZF2, Q5ZKW9, Q6Q2B2, Q8C181, Q8R003, Q94250, Q9JKP5, Q9NR56, Q9NUK0
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
36 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 29 |
| Likely benign | 3 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2171 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 13:97334270:TTACA:T | acceptor_loss | 1.0000 |
| 13:97334271:TACA:T | acceptor_loss | 1.0000 |
| 13:97334273:CA:C | acceptor_loss | 1.0000 |
| 13:97334274:A:AG | acceptor_gain | 1.0000 |
| 13:97334274:AG:A | acceptor_gain | 1.0000 |
| 13:97334274:AGG:A | acceptor_gain | 1.0000 |
| 13:97334275:G:A | acceptor_loss | 1.0000 |
| 13:97334275:G:GA | acceptor_gain | 1.0000 |
| 13:97334275:GG:G | acceptor_gain | 1.0000 |
| 13:97334275:GGG:G | acceptor_gain | 1.0000 |
| 13:97334275:GGGCC:G | acceptor_gain | 1.0000 |
| 13:97334436:CAGTG:C | donor_gain | 1.0000 |
| 13:97334438:GTG:G | donor_gain | 1.0000 |
| 13:97334439:TGG:T | donor_loss | 1.0000 |
| 13:97334441:G:C | donor_loss | 1.0000 |
| 13:97334441:G:GG | donor_gain | 1.0000 |
| 13:97334442:TGA:T | donor_loss | 1.0000 |
| 13:97334443:GAG:G | donor_loss | 1.0000 |
| 13:97334444:AGTA:A | donor_loss | 1.0000 |
| 13:97343214:G:GT | donor_gain | 1.0000 |
| 13:97347065:ATGG:A | donor_loss | 1.0000 |
| 13:97347066:TGGTA:T | donor_loss | 1.0000 |
| 13:97347068:GTA:G | donor_loss | 1.0000 |
| 13:97347069:T:G | donor_loss | 1.0000 |
| 13:97356685:A:AG | acceptor_gain | 1.0000 |
| 13:97356685:AAT:A | acceptor_gain | 1.0000 |
| 13:97357477:TCTA:T | acceptor_loss | 1.0000 |
| 13:97357478:CTAG:C | acceptor_loss | 1.0000 |
| 13:97357480:A:AG | acceptor_gain | 1.0000 |
| 13:97357480:A:C | acceptor_loss | 1.0000 |
AlphaMissense
2558 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 13:97276272:T:A | W13R | 1.000 |
| 13:97276272:T:C | W13R | 1.000 |
| 13:97276273:G:C | W13S | 1.000 |
| 13:97276274:G:C | W13C | 1.000 |
| 13:97276274:G:T | W13C | 1.000 |
| 13:97276276:T:A | L14Q | 1.000 |
| 13:97276276:T:C | L14P | 1.000 |
| 13:97276284:G:A | E17K | 1.000 |
| 13:97276288:T:A | V18D | 1.000 |
| 13:97276290:T:A | C19S | 1.000 |
| 13:97276290:T:C | C19R | 1.000 |
| 13:97276291:G:A | C19Y | 1.000 |
| 13:97276291:G:C | C19S | 1.000 |
| 13:97276291:G:T | C19F | 1.000 |
| 13:97276292:C:G | C19W | 1.000 |
| 13:97276294:G:C | R20T | 1.000 |
| 13:97276294:G:T | R20I | 1.000 |
| 13:97276295:A:C | R20S | 1.000 |
| 13:97276295:A:T | R20S | 1.000 |
| 13:97276314:T:A | C27S | 1.000 |
| 13:97276314:T:C | C27R | 1.000 |
| 13:97276315:G:A | C27Y | 1.000 |
| 13:97276315:G:C | C27S | 1.000 |
| 13:97276315:G:T | C27F | 1.000 |
| 13:97276316:C:G | C27W | 1.000 |
| 13:97276335:T:A | C34S | 1.000 |
| 13:97276335:T:C | C34R | 1.000 |
| 13:97276336:G:A | C34Y | 1.000 |
| 13:97276336:G:C | C34S | 1.000 |
| 13:97276336:G:T | C34F | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000000735 (13:97141693 T>C), RS1000027850 (13:97364402 A>T), RS1000028168 (13:97150243 G>A), RS1000037784 (13:97270299 TATTA>T), RS1000037822 (13:97222287 A>G), RS1000057248 (13:97143758 A>G), RS1000060086 (13:97254498 C>T), RS1000081969 (13:97367080 C>T), RS1000084440 (13:97312996 T>C), RS1000086735 (13:97319801 G>A), RS1000093012 (13:97354067 C>T), RS1000094178 (13:97193460 A>T), RS1000118977 (13:97302822 C>A), RS1000128355 (13:97233033 T>A), RS1000185613 (13:97264058 G>A)
Disease associations
OMIM: gene MIM:607327 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
11 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001053_5 | Alcoholism (alcohol use disorder factor score) | 2.000000e-06 |
| GCST001054_4 | Alcoholism (alcohol dependence factor score) | 8.000000e-07 |
| GCST001762_447 | Obesity-related traits | 6.000000e-06 |
| GCST004524_1 | Energy expenditure (24h) | 6.000000e-07 |
| GCST004524_4 | Energy expenditure (24h) | 4.000000e-06 |
| GCST006630_41 | Diastolic blood pressure | 4.000000e-13 |
| GCST006940_179 | Neurociticism | 2.000000e-08 |
| GCST008661_1 | Lung function in heavy smokers (high FEV1 vs average FEV1) | 1.000000e-07 |
| GCST008758_89 | Pre-treatment viral load in HIV-1 infection | 3.000000e-18 |
| GCST009325_14 | Parkinson’s disease or first degree relation to individual with Parkinson’s disease | 1.000000e-09 |
| GCST010485_3 | Platelet reactivity in response to clopidogrel treatment | 6.000000e-06 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005108 | arm span |
| EFO:0006336 | diastolic blood pressure |
| EFO:0007660 | neuroticism measurement |
| EFO:0004314 | forced expiratory volume |
| EFO:0010125 | viral load |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
82 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| trichostatin A | affects cotreatment, increases expression, affects expression | 4 |
| sodium arsenite | affects cotreatment, increases abundance, increases expression, decreases expression | 4 |
| Valproic Acid | affects cotreatment, increases expression, decreases expression | 4 |
| Arsenic | increases expression, affects cotreatment, decreases expression, increases methylation, increases abundance | 3 |
| Benzo(a)pyrene | increases expression, affects methylation, decreases expression | 3 |
| Cyclosporine | increases expression | 3 |
| bisphenol A | affects cotreatment, decreases methylation, increases expression | 2 |
| entinostat | decreases expression, affects cotreatment | 2 |
| Air Pollutants | decreases expression, increases abundance | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 2 |
| Cadmium Chloride | increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| geldanamycin | increases expression | 1 |
| testosterone enanthate | affects expression | 1 |
| methylmercuric chloride | decreases expression, increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| methylselenic acid | increases expression | 1 |
| sodium arsenate | increases abundance, increases expression | 1 |
| nickel chloride | increases expression | 1 |
| zinc chromate | increases abundance, increases expression | 1 |
| manganese chloride | increases abundance, affects cotreatment, decreases expression | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression | 1 |
| N,N,N’,N’-tetrakis(2-pyridylmethyl)ethylenediamine | increases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| chromium hexavalent ion | increases abundance, increases expression | 1 |
| pentabromodiphenyl ether | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 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): alcohol dependence