SAMD4B
gene geneOn this page
Also known as FLJ10211MGC99832SMGBhSmaug2
Summary
SAMD4B (sterile alpha motif domain containing 4B, HGNC:25492) is a protein-coding gene on chromosome 19q13.2, encoding Protein Smaug homolog 2 (Q5PRF9). Has transcriptional repressor activity. It is a selective cancer dependency (DepMap: 21.3% of cell lines).
Enables RNA binding activity. Predicted to be involved in nuclear-transcribed mRNA poly(A) tail shortening. Predicted to act upstream of or within cerebellar neuron development. Located in cytosol.
Source: NCBI Gene 55095 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 98 total
- Cancer dependency (DepMap): dependent in 21.3% of screened cell lines
- MANE Select transcript:
NM_001384574
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25492 |
| Approved symbol | SAMD4B |
| Name | sterile alpha motif domain containing 4B |
| Location | 19q13.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ10211, MGC99832, SMGB, hSmaug2 |
| Ensembl gene | ENSG00000179134 |
| Ensembl biotype | protein_coding |
| OMIM | 619231 |
| Entrez | 55095 |
Gene structure
Transcript identifiers
Ensembl transcripts: 21 — 16 protein_coding, 4 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000314471, ENST00000594204, ENST00000595476, ENST00000596271, ENST00000596319, ENST00000596368, ENST00000598605, ENST00000598913, ENST00000599712, ENST00000600018, ENST00000601613, ENST00000610417, ENST00000863006, ENST00000863007, ENST00000863008, ENST00000863009, ENST00000936210, ENST00000936211, ENST00000936212, ENST00000936213, ENST00000961383
RefSeq mRNA: 30 — MANE Select: NM_001384574
NM_001303614, NM_001384565, NM_001384566, NM_001384568, NM_001384569, NM_001384570, NM_001384571, NM_001384573, NM_001384574, NM_001384575, NM_001384576, NM_001384577, NM_001384578, NM_001384580, NM_001384581, NM_001384582, NM_001384583, NM_001384584, NM_001384585, NM_001384586, NM_001384587, NM_001384588, NM_001384589, NM_001384590, NM_001384591, NM_001384592, NM_001384593, NM_001384594, NM_001384595, NM_018028
CCDS: CCDS33020, CCDS77295
Canonical transcript exons
ENST00000610417 — 14 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000341670 | 39369655 | 39370125 |
| ENSE00000705462 | 39375650 | 39375889 |
| ENSE00001141508 | 39356689 | 39357089 |
| ENSE00001233488 | 39378504 | 39378589 |
| ENSE00001233494 | 39377485 | 39377824 |
| ENSE00001233510 | 39376705 | 39376791 |
| ENSE00001510605 | 39354006 | 39354066 |
| ENSE00002445110 | 39383208 | 39383291 |
| ENSE00002504139 | 39380990 | 39381113 |
| ENSE00003194560 | 39342421 | 39342576 |
| ENSE00003485300 | 39379966 | 39380084 |
| ENSE00003663194 | 39380587 | 39380785 |
| ENSE00003716431 | 39383499 | 39385700 |
| ENSE00003789856 | 39376437 | 39376546 |
Expression profiles
Bgee: expression breadth ubiquitous, 267 present calls, max score 99.03.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.9176 / max 148.7481, expressed in 1789 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 175698 | 12.8597 | 1783 |
| 175699 | 1.0579 | 694 |
Top tissues by expression
289 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| lower esophagus mucosa | UBERON:0035834 | 99.03 | gold quality |
| adenohypophysis | UBERON:0002196 | 98.56 | gold quality |
| tibial nerve | UBERON:0001323 | 98.51 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 98.46 | gold quality |
| right frontal lobe | UBERON:0002810 | 98.37 | gold quality |
| ectocervix | UBERON:0012249 | 98.27 | gold quality |
| mucosa of stomach | UBERON:0001199 | 98.26 | gold quality |
| left ovary | UBERON:0002119 | 98.26 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 98.11 | gold quality |
| endocervix | UBERON:0000458 | 98.09 | gold quality |
| right ovary | UBERON:0002118 | 98.05 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 98.03 | gold quality |
| lower esophagus | UBERON:0013473 | 98.03 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 98.03 | gold quality |
| skin of leg | UBERON:0001511 | 98.00 | gold quality |
| cingulate cortex | UBERON:0003027 | 98.00 | gold quality |
| right testis | UBERON:0004534 | 97.96 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 97.88 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 97.87 | gold quality |
| left uterine tube | UBERON:0001303 | 97.86 | gold quality |
| left testis | UBERON:0004533 | 97.83 | gold quality |
| popliteal artery | UBERON:0002250 | 97.82 | gold quality |
| tibial artery | UBERON:0007610 | 97.82 | gold quality |
| skin of abdomen | UBERON:0001416 | 97.81 | gold quality |
| body of uterus | UBERON:0009853 | 97.77 | gold quality |
| pituitary gland | UBERON:0000007 | 97.74 | gold quality |
| right uterine tube | UBERON:0001302 | 97.74 | gold quality |
| amygdala | UBERON:0001876 | 97.72 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 97.70 | gold quality |
| right coronary artery | UBERON:0001625 | 97.67 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 10.23 |
| E-GEOD-137537 | yes | 3.81 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
168 targeting SAMD4B, 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-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-6856-5P | 100.00 | 65.47 | 1298 |
| HSA-MIR-6758-5P | 100.00 | 66.21 | 1470 |
| HSA-MIR-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-MIR-548AT-5P | 99.96 | 70.83 | 2666 |
| HSA-MIR-4725-3P | 99.96 | 69.53 | 2520 |
| HSA-MIR-6780B-5P | 99.96 | 69.60 | 2562 |
| HSA-MIR-2110 | 99.96 | 66.68 | 1930 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-185-3P | 99.95 | 67.01 | 1743 |
| HSA-MIR-3910 | 99.95 | 71.13 | 2227 |
| HSA-MIR-3143 | 99.93 | 71.96 | 3104 |
| HSA-MIR-124-3P | 99.89 | 73.74 | 3043 |
| HSA-MIR-506-3P | 99.89 | 73.55 | 3057 |
| HSA-MIR-4271 | 99.88 | 68.32 | 2244 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 21.3% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 2)
- Results suggest that SAMD4B is a widely expressed gene involved in AP-1-, p53-and p21-mediated transcriptional signaling activity. (PMID:20510020)
- miR451 suppresses the malignant characteristics of colorectal cancer via targeting SAMD4B. (PMID:34109425)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | SAMD4B | ENSDARG00000086735 |
| mus_musculus | Samd4b | ENSMUSG00000109336 |
| rattus_norvegicus | Samd4b | ENSRNOG00000079475 |
| drosophila_melanogaster | smg | FBGN0016070 |
| caenorhabditis_elegans | WBGENE00022538 |
Paralogs (1): SAMD4A (ENSG00000020577)
Protein
Protein identifiers
Protein Smaug homolog 2 — Q5PRF9 (reviewed: Q5PRF9)
Alternative names: Sterile alpha motif domain-containing protein 4B
All UniProt accessions (6): Q5PRF9, M0QX45, M0QY61, M0QZ22, M0QZW7, M0R0X3
UniProt curated annotations — full annotation on UniProt →
Function. Has transcriptional repressor activity. Overexpression inhibits the transcriptional activities of AP-1, p53/TP53 and CDKN1A.
Subcellular location. Cytoplasm. Nucleus.
Tissue specificity. Widely expressed in embryonic and adult tissues.
Similarity. Belongs to the SMAUG family.
RefSeq proteins (30): NP_001290543, NP_001371494, NP_001371495, NP_001371497, NP_001371498, NP_001371499, NP_001371500, NP_001371502, NP_001371503, NP_001371504, NP_001371505, NP_001371506, NP_001371507, NP_001371509, NP_001371510, NP_001371511, NP_001371512, NP_001371513, NP_001371514, NP_001371515, NP_001371516, NP_001371517, NP_001371518, NP_001371519, NP_001371520, NP_001371521, NP_001371522, NP_001371523, NP_001371524, NP_060498 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001660 | SAM | Domain |
| IPR013761 | SAM/pointed_sf | Homologous_superfamily |
| IPR037093 | PHAT_dom_sf | Homologous_superfamily |
| IPR037634 | Smaug_SAM | Domain |
| IPR050897 | SMAUG/VTS1_RNA-bind | Family |
| IPR058599 | PHAT_Smg/ZCCHC2-like | Domain |
Pfam: PF00536, PF26034
UniProt features (25 total): modified residue 13, compositionally biased region 7, region of interest 3, chain 1, domain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q5PRF9-F1 | 65.47 | 0.36 |
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 (13): 172, 271, 278, 279, 281, 407, 555, 557, 563, 592, 600, 602, 628
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 193 (showing top):
GOBP_REGULATION_OF_MRNA_CATABOLIC_PROCESS, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_NEGATIVE_REGULATION_OF_TRANSLATION, GOBP_TRANSLATION, GOBP_POST_TRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION, GOMF_TRANSLATION_REGULATOR_ACTIVITY, GOBP_REGULATION_OF_CATABOLIC_PROCESS, GOBP_POSITIVE_REGULATION_OF_CATABOLIC_PROCESS, GCM_NUMA1, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS, GOBP_NUCLEAR_TRANSCRIBED_MRNA_CATABOLIC_PROCESS_DEADENYLATION_DEPENDENT_DECAY, KUUSELO_PANCREATIC_CANCER_19Q13_AMPLIFICATION, GOBP_NUCLEAR_TRANSCRIBED_MRNA_POLY_A_TAIL_SHORTENING, GCM_NF2, CCCAGAG_MIR326
GO Biological Process (3): nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289), negative regulation of translation (GO:0017148), regulation of mRNA stability (GO:0043488)
GO Molecular Function (4): RNA binding (GO:0003723), mRNA binding (GO:0003729), translation repressor activity (GO:0030371), protein binding (GO:0005515)
GO Cellular Component (4): P-body (GO:0000932), nucleus (GO:0005634), cytosol (GO:0005829), cytoplasm (GO:0005737)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay | 1 |
| nuclear-transcribed mRNA catabolic process | 1 |
| translation | 1 |
| regulation of translation | 1 |
| negative regulation of gene expression | 1 |
| negative regulation of protein metabolic process | 1 |
| regulation of RNA stability | 1 |
| regulation of mRNA catabolic process | 1 |
| nucleic acid binding | 1 |
| RNA binding | 1 |
| negative regulation of translation | 1 |
| translation regulator activity | 1 |
| binding | 1 |
| cytoplasmic ribonucleoprotein granule | 1 |
| intracellular membrane-bounded organelle | 1 |
| cytoplasm | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
1050 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SAMD4B | NANOS1 | Q8WY41 | 722 |
| SAMD4B | EIF4ENIF1 | Q9NRA8 | 580 |
| SAMD4B | USH1G | Q495M9 | 494 |
| SAMD4B | ANK2 | Q01484 | 490 |
| SAMD4B | ANK1 | P16157 | 470 |
| SAMD4B | ANK3 | Q12955 | 470 |
| SAMD4B | CEBPZOS | A8MTT3 | 453 |
| SAMD4B | E9PNW1 | E9PNW1 | 425 |
| SAMD4B | GOLGA3 | Q08378 | 409 |
| SAMD4B | TMEM63C | Q9P1W3 | 406 |
| SAMD4B | WDR5B | Q86VZ2 | 406 |
| SAMD4B | RNPC3 | Q96LT9 | 396 |
| SAMD4B | PUM2 | Q8TB72 | 380 |
| SAMD4B | C1QTNF12 | Q5T7M4 | 378 |
| SAMD4B | CAPN9 | O14815 | 375 |
IntAct
74 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SAMD4B | YWHAQ | psi-mi:“MI:0914”(association) | 0.850 |
| SAMD4B | YWHAG | psi-mi:“MI:0914”(association) | 0.840 |
| YWHAQ | WDR62 | psi-mi:“MI:0914”(association) | 0.830 |
| SAMD4B | YWHAZ | psi-mi:“MI:0915”(physical association) | 0.760 |
| SAMD4B | YWHAE | psi-mi:“MI:0915”(physical association) | 0.740 |
| YWHAG | BLTP3B | psi-mi:“MI:0914”(association) | 0.640 |
| YWHAH | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.610 |
| YWHAB | BLTP3B | psi-mi:“MI:0914”(association) | 0.610 |
| YWHAH | BLTP3B | psi-mi:“MI:0914”(association) | 0.570 |
| LRRC8E | SAMD4B | psi-mi:“MI:0915”(physical association) | 0.560 |
| CCDC179 | SAMD4B | psi-mi:“MI:0915”(physical association) | 0.560 |
| SAMD4B | psi-mi:“MI:0915”(physical association) | 0.560 | |
| SAMD4B | USP53 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SAMD4B | BCL2L10 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SAMD4B | RSRC2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SAMD4B | LRRC8E | psi-mi:“MI:0915”(physical association) | 0.560 |
| YWHAG | SHTN1 | psi-mi:“MI:0914”(association) | 0.560 |
| YWHAQ | IGLC7 | psi-mi:“MI:0914”(association) | 0.530 |
| YWHAB | SHTN1 | psi-mi:“MI:0914”(association) | 0.530 |
| YWHAZ | BLTP3B | psi-mi:“MI:0914”(association) | 0.530 |
| YWHAB | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.480 |
| YWHAQ | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.480 |
| SFN | SAMD4B | psi-mi:“MI:0915”(physical association) | 0.400 |
| SAMD4B | CFTR | psi-mi:“MI:0915”(physical association) | 0.370 |
| RGMA | BDP1 | psi-mi:“MI:0914”(association) | 0.350 |
| Nfyc | BDP1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (178): SAMD4B (Synthetic Growth Defect), SAMD4B (Proximity Label-MS), SAMD4B (Proximity Label-MS), SAMD4B (Proximity Label-MS), SAMD4B (Proximity Label-MS), SAMD4B (Affinity Capture-MS), SAMD4B (Affinity Capture-MS), SAMD4B (Affinity Capture-MS), SAMD4B (Affinity Capture-MS), SAMD4A (Affinity Capture-MS), PDP1 (Affinity Capture-MS), YWHAG (Affinity Capture-MS), YWHAE (Affinity Capture-MS), ACTA2 (Affinity Capture-MS), YWHAZ (Affinity Capture-MS)
ESM2 similar proteins: A0JNT9, A0JPP8, A1X157, O15169, O75145, O75335, P39880, P60469, Q07DZ5, Q08CF3, Q08E13, Q09YM8, Q2M1P5, Q2QLG9, Q2VUH7, Q32PN7, Q3TMW1, Q3UHC7, Q3UIL6, Q3UIW5, Q3UJV1, Q5DU25, Q5FWS6, Q5JU85, Q5PRF9, Q5XI59, Q5ZJ07, Q674X7, Q68UI8, Q69ZS8, Q6IPM2, Q6NZT2, Q6P402, Q6P730, Q6ZP65, Q80XS6, Q80Y83, Q8JZP9, Q8K1S6, Q8R4R9
Diamond homologs: B3NFQ7, B4HKJ7, B4QMP1, B5DF21, P60320, Q0IHW3, Q23972, Q4P965, Q4WJS2, Q5BGC4, Q5FWP2, Q5PRF9, Q6CHK0, Q758Y4, Q7RZQ3, Q80XS6, Q8CBY1, Q95LV5, Q9UPU9, J9VVN9, Q08831, Q5AI80, Q6BSL1, Q6CY29, Q6FM94, Q9P6R7, Q4IBN1
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 56 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 |
|---|---|---|---|
| Activation of BAD and translocation to mitochondria | 7 | 130.0× | 4e-12 |
| Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex | 7 | 114.7× | 6e-12 |
| SARS-CoV-1 targets host intracellular signalling and regulatory pathways | 7 | 114.7× | 6e-12 |
| Activation of BH3-only proteins | 7 | 84.8× | 6e-11 |
| RHO GTPases activate PKNs | 7 | 54.2× | 2e-09 |
| Intrinsic Pathway for Apoptosis | 7 | 50.0× | 3e-09 |
| FOXO-mediated transcription | 5 | 41.0× | 2e-06 |
| SARS-CoV-1-host interactions | 7 | 30.0× | 9e-08 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| protein targeting | 5 | 37.4× | 5e-05 |
| intracellular protein localization | 9 | 19.2× | 4e-07 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
98 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 82 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2409 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:39342574:GCG:G | donor_gain | 1.0000 |
| 19:39342574:GCGGT:G | donor_loss | 1.0000 |
| 19:39342575:CGGTG:C | donor_loss | 1.0000 |
| 19:39342577:G:GG | donor_gain | 1.0000 |
| 19:39342578:T:G | donor_loss | 1.0000 |
| 19:39357086:GCTG:G | donor_gain | 1.0000 |
| 19:39357088:TGGTG:T | donor_loss | 1.0000 |
| 19:39357089:GGTG:G | donor_loss | 1.0000 |
| 19:39357090:G:A | donor_loss | 1.0000 |
| 19:39357090:G:GG | donor_gain | 1.0000 |
| 19:39357091:TGA:T | donor_loss | 1.0000 |
| 19:39357092:GAG:G | donor_loss | 1.0000 |
| 19:39369652:TAGC:T | acceptor_loss | 1.0000 |
| 19:39369653:A:AG | acceptor_gain | 1.0000 |
| 19:39369653:AGCC:A | acceptor_loss | 1.0000 |
| 19:39369654:G:GG | acceptor_gain | 1.0000 |
| 19:39369654:GC:G | acceptor_gain | 1.0000 |
| 19:39369654:GCC:G | acceptor_gain | 1.0000 |
| 19:39369654:GCCA:G | acceptor_gain | 1.0000 |
| 19:39369976:A:G | donor_gain | 1.0000 |
| 19:39376429:T:TA | acceptor_gain | 1.0000 |
| 19:39376434:A:G | acceptor_gain | 1.0000 |
| 19:39376436:GAT:G | acceptor_gain | 1.0000 |
| 19:39376436:GATGT:G | acceptor_gain | 1.0000 |
| 19:39376543:TCAGG:T | donor_loss | 1.0000 |
| 19:39376545:AGGTG:A | donor_loss | 1.0000 |
| 19:39376546:GG:G | donor_loss | 1.0000 |
| 19:39376547:GTG:G | donor_loss | 1.0000 |
| 19:39376548:T:G | donor_loss | 1.0000 |
| 19:39376570:G:T | donor_gain | 1.0000 |
AlphaMissense
4492 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:39356900:T:C | F3L | 1.000 |
| 19:39356902:C:A | F3L | 1.000 |
| 19:39356902:C:G | F3L | 1.000 |
| 19:39356942:T:A | W17R | 1.000 |
| 19:39356942:T:C | W17R | 1.000 |
| 19:39356956:G:C | E21D | 1.000 |
| 19:39356956:G:T | E21D | 1.000 |
| 19:39356958:A:C | Q22P | 1.000 |
| 19:39356967:C:A | A25D | 1.000 |
| 19:39356970:T:C | L26P | 1.000 |
| 19:39356973:T:C | L27P | 1.000 |
| 19:39356979:T:C | L29P | 1.000 |
| 19:39356982:T:C | L30P | 1.000 |
| 19:39357011:T:C | F40L | 1.000 |
| 19:39357012:T:C | F40S | 1.000 |
| 19:39357013:C:A | F40L | 1.000 |
| 19:39357013:C:G | F40L | 1.000 |
| 19:39357015:T:C | L41P | 1.000 |
| 19:39357027:T:C | L45P | 1.000 |
| 19:39357078:C:A | A62D | 1.000 |
| 19:39369706:T:C | L83P | 1.000 |
| 19:39369718:T:A | L87H | 1.000 |
| 19:39369718:T:C | L87P | 1.000 |
| 19:39369724:T:C | L89P | 1.000 |
| 19:39369727:T:A | L90H | 1.000 |
| 19:39369727:T:C | L90P | 1.000 |
| 19:39369759:T:C | Y101H | 1.000 |
| 19:39369759:T:G | Y101D | 1.000 |
| 19:39369772:T:C | L105P | 1.000 |
| 19:39369784:T:C | L109P | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000004715 (19:39387518 C>T), RS1000143167 (19:39352860 C>T), RS1000161518 (19:39351359 C>T), RS1000213780 (19:39375509 G>T), RS1000288087 (19:39368780 A>G), RS1000291759 (19:39381981 G>A), RS1000366314 (19:39363801 G>C), RS1000452786 (19:39352632 C>T), RS1000536828 (19:39387971 CTA>C), RS1000624244 (19:39383439 C>T), RS1000655322 (19:39383748 G>A), RS1000714486 (19:39352763 G>C,T), RS1000777245 (19:39358942 T>C), RS1000799107 (19:39341379 C>T), RS1000812754 (19:39376936 G>C)
Disease associations
OMIM: gene MIM:619231 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001762_907 | Obesity-related traits | 6.000000e-06 |
| GCST011352_11 | Alanine aminotransferase levels | 2.000000e-12 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0003940 | physical activity |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
27 total (human), top 27 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Acetaminophen | increases expression, decreases expression | 3 |
| Air Pollutants | affects expression, increases abundance, increases expression | 2 |
| FR900359 | affects phosphorylation | 1 |
| dicrotophos | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| sodium arsenite | increases expression | 1 |
| cobaltous chloride | increases expression | 1 |
| coumarin | affects phosphorylation | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| ICG 001 | decreases expression | 1 |
| abrine | increases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | decreases expression | 1 |
| Caffeine | affects phosphorylation | 1 |
| Doxorubicin | decreases expression | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Potassium Dichromate | decreases expression | 1 |
| Quercetin | increases phosphorylation | 1 |
| Ribonucleotides | affects binding | 1 |
| Smoke | decreases expression | 1 |
| Tetrachlorodibenzodioxin | affects expression | 1 |
| Dronabinol | increases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Ursodeoxycholic Acid | affects expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Gold Compounds | increases expression | 1 |
| Particulate Matter | increases abundance, increases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.