SBNO2
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Also known as FLJ00173StnoSno
Summary
SBNO2 (strawberry notch homolog 2, HGNC:29158) is a protein-coding gene on chromosome 19p13.3, encoding Protein strawberry notch homolog 2 (Q9Y2G9). Acts as a transcriptional coregulator, that can have both coactivator and corepressor functions.
Predicted to enable chromatin DNA binding activity and histone binding activity. Involved in several processes, including cellular response to interleukin-6; macrophage activation involved in immune response; and negative regulation of DNA-templated transcription. Predicted to be active in nucleus.
Source: NCBI Gene 22904 — RefSeq curated summary.
At a glance
- GWAS associations: 34
- Clinical variants (ClinVar): 351 total
- MANE Select transcript:
NM_014963
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29158 |
| Approved symbol | SBNO2 |
| Name | strawberry notch homolog 2 |
| Location | 19p13.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ00173, Stno, Sno |
| Ensembl gene | ENSG00000064932 |
| Ensembl biotype | protein_coding |
| OMIM | 615729 |
| Entrez | 22904 |
Gene structure
Transcript identifiers
Ensembl transcripts: 19 — 15 protein_coding, 4 retained_intron
ENST00000361757, ENST00000438103, ENST00000586109, ENST00000587024, ENST00000587655, ENST00000587673, ENST00000590176, ENST00000590446, ENST00000590998, ENST00000592222, ENST00000935175, ENST00000935176, ENST00000935177, ENST00000954690, ENST00000954691, ENST00000954692, ENST00000954693, ENST00000954694, ENST00000954695
RefSeq mRNA: 2 — MANE Select: NM_014963
NM_001100122, NM_014963
CCDS: CCDS45894, CCDS45895
Canonical transcript exons
ENST00000361757 — 32 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000655380 | 1109135 | 1109211 |
| ENSE00000655389 | 1112189 | 1112301 |
| ENSE00000655395 | 1114231 | 1114422 |
| ENSE00000892424 | 1109292 | 1109423 |
| ENSE00000892426 | 1109506 | 1109598 |
| ENSE00000892431 | 1111506 | 1111614 |
| ENSE00000892432 | 1111996 | 1112067 |
| ENSE00000892434 | 1112402 | 1112537 |
| ENSE00000892435 | 1112818 | 1112949 |
| ENSE00000892436 | 1113535 | 1113704 |
| ENSE00000892438 | 1116021 | 1116103 |
| ENSE00001678578 | 1174172 | 1174268 |
| ENSE00001692613 | 1147309 | 1147420 |
| ENSE00001795081 | 1149369 | 1149442 |
| ENSE00002286470 | 1154184 | 1154402 |
| ENSE00002810471 | 1107638 | 1108704 |
| ENSE00003477322 | 1108779 | 1108969 |
| ENSE00003517168 | 1119011 | 1119164 |
| ENSE00003518518 | 1123534 | 1123639 |
| ENSE00003528424 | 1123942 | 1124022 |
| ENSE00003549411 | 1122139 | 1122282 |
| ENSE00003561948 | 1122894 | 1123045 |
| ENSE00003585063 | 1111019 | 1111093 |
| ENSE00003602448 | 1110745 | 1110888 |
| ENSE00003615298 | 1116829 | 1116926 |
| ENSE00003615603 | 1119906 | 1120023 |
| ENSE00003631719 | 1122468 | 1122558 |
| ENSE00003647800 | 1127604 | 1127765 |
| ENSE00003656154 | 1122658 | 1122791 |
| ENSE00003657251 | 1119516 | 1119621 |
| ENSE00003657802 | 1109683 | 1109777 |
| ENSE00003659824 | 1117323 | 1117499 |
Expression profiles
Bgee: expression breadth ubiquitous, 134 present calls, max score 97.82.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 49.3719 / max 919.1965, expressed in 1818 samples.
FANTOM5 promoters (19 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 177990 | 28.1658 | 1810 |
| 177972 | 8.9296 | 1356 |
| 177989 | 3.1602 | 1515 |
| 177974 | 1.8177 | 767 |
| 177971 | 1.5627 | 600 |
| 177973 | 1.3239 | 600 |
| 177982 | 1.2986 | 483 |
| 177987 | 1.0130 | 388 |
| 177975 | 0.6473 | 403 |
| 177976 | 0.4936 | 291 |
Top tissues by expression
134 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| blood | UBERON:0000178 | 97.82 | gold quality |
| spleen | UBERON:0002106 | 95.53 | gold quality |
| vermiform appendix | UBERON:0001154 | 95.41 | gold quality |
| left uterine tube | UBERON:0001303 | 95.26 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 94.94 | gold quality |
| granulocyte | CL:0000094 | 94.90 | gold quality |
| omental fat pad | UBERON:0010414 | 94.49 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 94.11 | gold quality |
| esophagus mucosa | UBERON:0002469 | 94.07 | gold quality |
| metanephros cortex | UBERON:0010533 | 93.93 | gold quality |
| minor salivary gland | UBERON:0001830 | 93.91 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 93.61 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 93.55 | gold quality |
| sural nerve | UBERON:0015488 | 93.50 | gold quality |
| skin of abdomen | UBERON:0001416 | 93.28 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 93.26 | gold quality |
| left adrenal gland | UBERON:0001234 | 93.17 | gold quality |
| adipose tissue | UBERON:0001013 | 93.15 | gold quality |
| zone of skin | UBERON:0000014 | 93.07 | gold quality |
| skin of leg | UBERON:0001511 | 93.07 | gold quality |
| right lung | UBERON:0002167 | 92.92 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 92.51 | gold quality |
| thoracic mammary gland | UBERON:0005200 | 92.48 | gold quality |
| vagina | UBERON:0000996 | 92.47 | gold quality |
| adenohypophysis | UBERON:0002196 | 92.36 | gold quality |
| endocervix | UBERON:0000458 | 92.26 | gold quality |
| ectocervix | UBERON:0012249 | 92.26 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 92.22 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 92.12 | gold quality |
| esophagus | UBERON:0001043 | 92.00 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 1.89 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): MITF, STAT1, STAT3, TAL1
miRNA regulators (miRDB)
42 targeting SBNO2, 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-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
| 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-124-3P | 99.89 | 73.74 | 3043 |
| HSA-MIR-506-3P | 99.89 | 73.55 | 3057 |
| HSA-MIR-6780A-5P | 99.88 | 66.69 | 2776 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-3663-3P | 99.84 | 70.39 | 798 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-448 | 99.79 | 72.37 | 2103 |
| HSA-MIR-1273H-5P | 99.77 | 66.32 | 2471 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
| HSA-MIR-12129 | 99.72 | 67.45 | 1311 |
| HSA-MIR-1200 | 99.71 | 70.42 | 1838 |
| HSA-MIR-5580-3P | 99.70 | 69.41 | 2052 |
| HSA-MIR-30B-3P | 99.70 | 65.76 | 2325 |
| HSA-MIR-3689A-3P | 99.70 | 65.73 | 2306 |
| HSA-MIR-3689B-3P | 99.70 | 65.71 | 2311 |
| HSA-MIR-3689C | 99.70 | 65.71 | 2311 |
| HSA-MIR-6779-5P | 99.70 | 65.76 | 2363 |
| HSA-MIR-6883-5P | 99.69 | 68.05 | 3785 |
| HSA-MIR-6731-5P | 99.28 | 67.42 | 2375 |
| HSA-MIR-8085 | 99.28 | 67.56 | 2362 |
| HSA-MIR-5582-5P | 99.27 | 71.42 | 1879 |
| HSA-MIR-4685-5P | 99.25 | 65.99 | 1563 |
| HSA-MIR-6837-5P | 99.25 | 65.47 | 1632 |
| HSA-MIR-661 | 99.09 | 65.94 | 2062 |
Literature-anchored findings (GeneRIF, showing 3)
- The SBNO2 is component of the pathways that contribute to the downstream anti-inflammatory effects of IL-10. (PMID:18025162)
- SBNO2 is a critical mediator of STAT3-driven hematological malignancies. (PMID:36630607)
- Study of Strawberry Notch homolog 1 and 2 expression in human glioblastoma. (PMID:36695974)
Cross-species orthologs
7 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | sbno2b | ENSDARG00000016188 |
| danio_rerio | sbno2a | ENSDARG00000098801 |
| mus_musculus | Sbno2 | ENSMUSG00000035673 |
| rattus_norvegicus | Sbno2 | ENSRNOG00000013987 |
| drosophila_melanogaster | CG3491 | FBGN0028887 |
| drosophila_melanogaster | sno | FBGN0265630 |
| caenorhabditis_elegans | WBGENE00002889 |
Paralogs (1): SBNO1 (ENSG00000139697)
Protein
Protein identifiers
Protein strawberry notch homolog 2 — Q9Y2G9 (reviewed: Q9Y2G9)
All UniProt accessions (4): Q9Y2G9, K7ENA9, K7ERL2, K7ES28
UniProt curated annotations — full annotation on UniProt →
Function. Acts as a transcriptional coregulator, that can have both coactivator and corepressor functions. Inhibits the DCSTAMP-repressive activity of TAL1, hence enhancing the access of the transcription factor MITF to the DC-STAMP promoter in osteoclast. Plays a role in bone homeostasis; required as a positive regulator in TNFSF11//RANKL-mediated osteoclast fusion via a DCSTAMP-dependent pathway. May also be required in the regulation of osteoblast differentiation. Involved in the transcriptional corepression of NF-kappaB in macrophages. Plays a role as a regulator in the pro-inflammatory cascade.
Subunit / interactions. Interacts with TAL1; this interaction inhibits TAL1 occupancy of the DCSTAMP promoter, leading to the activation of the DCSTAMP promoter by the transcription factor MITF.
Tissue specificity. Detected in macrophages. IL10 regulates expression in a STAT3-dependent way.
Induction. Up-regulated by interleukin IL6 and soluble interleukin receptor IL6R in astrocytes.
Similarity. Belongs to the SBNO family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9Y2G9-1 | 1 | yes |
| Q9Y2G9-3 | 2 |
RefSeq proteins (2): NP_001093592, NP_055778* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR026741 | SNO | Family |
| IPR026937 | SBNO_Helicase_C_dom | Domain |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
| IPR039187 | SNO_AAA | Domain |
| IPR057332 | SBNO_a/b_dom | Domain |
Pfam: PF13871, PF13872, PF25373
UniProt features (15 total): sequence conflict 5, region of interest 4, compositionally biased region 4, chain 1, splice variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9Y2G9-F1 | 68.13 | 0.28 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 197 (showing top):
GOBP_MYELOID_CELL_DIFFERENTIATION, GOBP_BONE_TRABECULA_MORPHOGENESIS, GOBP_INFLAMMATORY_RESPONSE, GOBP_RESPONSE_TO_PEPTIDE, GOBP_CELLULAR_RESPONSE_TO_LIPID, CROONQUIST_NRAS_SIGNALING_DN, GOBP_MACROPHAGE_ACTIVATION_INVOLVED_IN_IMMUNE_RESPONSE, GOBP_CELLULAR_RESPONSE_TO_BIOTIC_STIMULUS, MODULE_45, GAUSSMANN_MLL_AF4_FUSION_TARGETS_A_UP, GOBP_MYELOID_LEUKOCYTE_DIFFERENTIATION, MODULE_16, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_CELL_ACTIVATION_INVOLVED_IN_IMMUNE_RESPONSE, GTGCCTT_MIR506
GO Biological Process (16): macrophage activation involved in immune response (GO:0002281), bone mineralization (GO:0030282), osteoclast differentiation (GO:0030316), negative regulation of DNA-templated transcription (GO:0045892), positive regulation of transcription by RNA polymerase II (GO:0045944), regulation of inflammatory response (GO:0050727), bone trabecula morphogenesis (GO:0061430), cellular response to lipopolysaccharide (GO:0071222), cellular response to interleukin-11 (GO:0071348), cellular response to interleukin-6 (GO:0071354), osteoclast fusion (GO:0072675), cellular response to leukemia inhibitory factor (GO:1990830), ossification (GO:0001503), regulation of DNA-templated transcription (GO:0006355), cell differentiation (GO:0030154), multinuclear osteoclast differentiation (GO:0072674)
GO Molecular Function (2): chromatin DNA binding (GO:0031490), histone binding (GO:0042393)
GO Cellular Component (1): nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular response to cytokine stimulus | 3 |
| DNA-templated transcription | 2 |
| myeloid cell activation involved in immune response | 1 |
| leukocyte activation involved in immune response | 1 |
| immune response | 1 |
| macrophage activation | 1 |
| ossification | 1 |
| biomineral tissue development | 1 |
| myeloid leukocyte differentiation | 1 |
| regulation of DNA-templated transcription | 1 |
| negative regulation of RNA biosynthetic process | 1 |
| regulation of transcription by RNA polymerase II | 1 |
| transcription by RNA polymerase II | 1 |
| positive regulation of DNA-templated transcription | 1 |
| inflammatory response | 1 |
| regulation of defense response | 1 |
| regulation of response to external stimulus | 1 |
| trabecula morphogenesis | 1 |
| response to lipopolysaccharide | 1 |
| cellular response to molecule of bacterial origin | 1 |
| cellular response to lipid | 1 |
| cellular response to oxygen-containing compound | 1 |
| response to interleukin-11 | 1 |
| response to interleukin-6 | 1 |
| syncytium formation by cell-cell fusion | 1 |
| multinuclear osteoclast differentiation | 1 |
| response to leukemia inhibitory factor | 1 |
| multicellular organismal process | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| cellular developmental process | 1 |
| osteoclast differentiation | 1 |
| DNA binding | 1 |
| chromatin binding | 1 |
| protein binding | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
1044 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SBNO2 | VMP1 | Q96GC9 | 543 |
| SBNO2 | ETV3 | P41162 | 512 |
| SBNO2 | FAM174C | Q9BVV8 | 511 |
| SBNO2 | GAL3ST4 | Q96RP7 | 504 |
| SBNO2 | ARHGAP45 | Q92619 | 497 |
| SBNO2 | ARID5A | Q03989 | 455 |
| SBNO2 | C1GALT1C1 | Q96EU7 | 448 |
| SBNO2 | POLR2E | P19388 | 426 |
| SBNO2 | FBXL4 | Q9UKA2 | 425 |
| SBNO2 | MIDN | Q504T8 | 396 |
| SBNO2 | CBARP | Q8N350 | 396 |
| SBNO2 | EEF1A2 | P54266 | 390 |
| SBNO2 | SBNO1 | A3KN83 | 388 |
| SBNO2 | IL22RA2 | Q969J5 | 378 |
| SBNO2 | TPGS1 | Q6ZTW0 | 376 |
IntAct
6 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TCEAL1 | CHEK1 | psi-mi:“MI:0914”(association) | 0.530 |
| MYC | psi-mi:“MI:0914”(association) | 0.350 | |
| KLHL22 | TRAV18 | psi-mi:“MI:0914”(association) | 0.350 |
| AFG2A | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| AFG2B | MMP24OS | psi-mi:“MI:0914”(association) | 0.350 |
| SBNO2 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (17): SBNO2 (Affinity Capture-RNA), SBNO2 (Affinity Capture-RNA), SBNO2 (Proximity Label-MS), SBNO2 (Affinity Capture-MS), SBNO2 (Affinity Capture-RNA), SBNO2 (Affinity Capture-MS), SBNO2 (Affinity Capture-RNA), SBNO2 (Affinity Capture-MS), SBNO2 (Affinity Capture-MS), SBNO2 (Affinity Capture-MS), SBNO2 (Affinity Capture-MS), SBNO2 (Proximity Label-MS), SBNO2 (Proximity Label-MS), SBNO2 (Proximity Label-MS), SBNO2 (Proximity Label-MS)
ESM2 similar proteins: A0A0M5K865, A0A2H5RJD4, A0JND4, A4RKC3, A8N5E5, A8NS89, B0D0N9, B4IB36, B4QL99, B6K0N7, E9M7A1, F4IF36, F4JPP0, G4YRT1, G4YUT3, P06623, P09543, P0CV73, P93042, Q0E0Q3, Q0JLS6, Q0UI93, Q1LZE8, Q2H0G2, Q2M3Z7, Q2M3Z8, Q2M405, Q2M408, Q2QMH2, Q2R224, Q2VF19, Q43827, Q5M888, Q5RFD0, Q5RFL4, Q6FLD4, Q75EG6, Q7S8J7, Q803H0, Q810J8
Diamond homologs: A0JND4, A3KN83, A8JUV0, F4IF36, O01737, Q5BJL5, Q5F371, Q689Z5, Q7TNB8, Q9Y2G9, A1YVX4, A6H619, A8DZJ1, P41229, P41230, P47156, P58268, P58269, P58270, Q30DN6, Q38JA7, Q5F3R2, Q5XUN4, Q63625, Q6IQX0, Q80Y84, Q92782, Q92784, Q9BY66, Q9FNE9, Q9P1Y6, Q9QX66, Q9UGL1, Q9VMJ7
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
351 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 277 |
| Likely benign | 28 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
6130 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:1108702:TGC:T | acceptor_gain | 1.0000 |
| 19:1108702:TGCC:T | acceptor_loss | 1.0000 |
| 19:1108703:GCC:G | acceptor_loss | 1.0000 |
| 19:1108705:C:CC | acceptor_gain | 1.0000 |
| 19:1108776:CACC:C | donor_loss | 1.0000 |
| 19:1108777:A:AC | donor_gain | 1.0000 |
| 19:1108777:AC:A | donor_gain | 1.0000 |
| 19:1108778:C:CC | donor_gain | 1.0000 |
| 19:1108778:CC:C | donor_gain | 1.0000 |
| 19:1108778:CCCA:C | donor_gain | 1.0000 |
| 19:1108781:A:AC | donor_gain | 1.0000 |
| 19:1108782:C:CC | donor_gain | 1.0000 |
| 19:1108782:CTTG:C | donor_gain | 1.0000 |
| 19:1108788:T:TA | donor_gain | 1.0000 |
| 19:1108791:T:A | donor_gain | 1.0000 |
| 19:1108796:T:A | donor_gain | 1.0000 |
| 19:1108967:TTC:T | acceptor_gain | 1.0000 |
| 19:1108967:TTCC:T | acceptor_loss | 1.0000 |
| 19:1108968:TC:T | acceptor_gain | 1.0000 |
| 19:1108968:TCCTG:T | acceptor_loss | 1.0000 |
| 19:1108969:CC:C | acceptor_gain | 1.0000 |
| 19:1108970:C:CC | acceptor_gain | 1.0000 |
| 19:1108970:CTGCG:C | acceptor_loss | 1.0000 |
| 19:1109287:CCTA:C | donor_loss | 1.0000 |
| 19:1109288:CTA:C | donor_loss | 1.0000 |
| 19:1109289:TA:T | donor_loss | 1.0000 |
| 19:1109290:A:AC | donor_gain | 1.0000 |
| 19:1109290:A:T | donor_loss | 1.0000 |
| 19:1109290:AC:A | donor_gain | 1.0000 |
| 19:1109291:C:CC | donor_gain | 1.0000 |
AlphaMissense
8894 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:1110861:C:G | R971P | 1.000 |
| 19:1112067:C:A | G877W | 1.000 |
| 19:1112199:A:G | L873P | 1.000 |
| 19:1112202:C:G | R872P | 1.000 |
| 19:1112220:G:T | A866D | 1.000 |
| 19:1112301:C:T | G839D | 1.000 |
| 19:1112432:A:G | W829R | 1.000 |
| 19:1112432:A:T | W829R | 1.000 |
| 19:1112834:A:G | F788S | 1.000 |
| 19:1112939:C:A | R753M | 1.000 |
| 19:1112939:C:G | R753T | 1.000 |
| 19:1119574:A:G | W439R | 1.000 |
| 19:1119574:A:T | W439R | 1.000 |
| 19:1119913:G:C | S420R | 1.000 |
| 19:1119913:G:T | S420R | 1.000 |
| 19:1119915:T:G | S420R | 1.000 |
| 19:1119953:A:G | L407P | 1.000 |
| 19:1122224:A:G | L355P | 1.000 |
| 19:1122234:A:C | Y352D | 1.000 |
| 19:1122538:A:G | L312P | 1.000 |
| 19:1122552:G:C | S307R | 1.000 |
| 19:1122552:G:T | S307R | 1.000 |
| 19:1122554:T:G | S307R | 1.000 |
| 19:1122659:A:G | W305R | 1.000 |
| 19:1122659:A:T | W305R | 1.000 |
| 19:1122724:C:T | G283D | 1.000 |
| 19:1108779:C:G | G1206R | 0.999 |
| 19:1108808:A:G | L1196P | 0.999 |
| 19:1108872:A:G | W1175R | 0.999 |
| 19:1108872:A:T | W1175R | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000011064 (19:1150998 C>A,T), RS1000034376 (19:1163923 C>T), RS1000042851 (19:1108824 G>A), RS1000059511 (19:1168569 C>G), RS1000090208 (19:1168734 C>T), RS1000091974 (19:1113148 C>G), RS1000107114 (19:1113249 C>T), RS1000118111 (19:1152861 C>A,T), RS1000142269 (19:1154999 TCAGA>T), RS1000166107 (19:1123711 C>A,T), RS1000174738 (19:1113953 G>A,T), RS1000176275 (19:1125979 G>A,C), RS1000234615 (19:1152655 C>G), RS1000277147 (19:1154884 G>C,T), RS1000339305 (19:1127962 C>T)
Disease associations
OMIM: gene MIM:615729 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
34 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000879_36 | Crohn’s disease | 8.000000e-12 |
| GCST004131_43 | Inflammatory bowel disease | 5.000000e-17 |
| GCST004132_20 | Crohn’s disease | 1.000000e-20 |
| GCST004611_144 | High light scatter reticulocyte count | 5.000000e-21 |
| GCST004612_91 | High light scatter reticulocyte percentage of red cells | 3.000000e-22 |
| GCST004619_105 | Reticulocyte fraction of red cells | 3.000000e-17 |
| GCST004622_70 | Reticulocyte count | 6.000000e-15 |
| GCST004628_32 | Immature fraction of reticulocytes | 1.000000e-16 |
| GCST005537_43 | Chronic inflammatory diseases (ankylosing spondylitis, Crohn’s disease, psoriasis, primary sclerosing cholangitis, ulcerative colitis) (pleiotropy) | 2.000000e-18 |
| GCST005973_16 | White blood cell count | 1.000000e-08 |
| GCST006288_370 | Heel bone mineral density | 2.000000e-06 |
| GCST006288_670 | Heel bone mineral density | 5.000000e-18 |
| GCST006288_71 | Heel bone mineral density | 2.000000e-11 |
| GCST006979_737 | Heel bone mineral density | 2.000000e-65 |
| GCST007400_43 | Systemic lupus erythematosus | 9.000000e-06 |
| GCST007797_52 | Asthma onset (childhood vs adult) | 2.000000e-07 |
| GCST007800_104 | Asthma (childhood onset) | 1.000000e-12 |
| GCST007932_110 | Medication use (thyroid preparations) | 5.000000e-09 |
| GCST007995_8 | Asthma (childhood onset) | 2.000000e-08 |
| GCST012202_5 | Distal/Left-sided colorectal cancer | 2.000000e-08 |
| GCST90002382_498 | Eosinophil percentage of white cells | 3.000000e-10 |
| GCST90002385_302 | High light scatter reticulocyte count | 1.000000e-36 |
| GCST90002386_51 | High light scatter reticulocyte percentage of red cells | 1.000000e-37 |
| GCST90002387_222 | Immature fraction of reticulocytes | 5.000000e-35 |
| GCST90002388_26 | Lymphocyte count | 3.000000e-14 |
| GCST90002388_27 | Lymphocyte count | 2.000000e-14 |
| GCST90002388_28 | Lymphocyte count | 8.000000e-13 |
| GCST90002388_523 | Lymphocyte count | 3.000000e-32 |
| GCST90002388_524 | Lymphocyte count | 1.000000e-11 |
| GCST90002389_256 | Lymphocyte percentage of white cells | 2.000000e-12 |
EFO canonical traits (8, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007986 | reticulocyte count |
| EFO:0009270 | heel bone mineral density |
| EFO:0004847 | age at onset |
| EFO:0009933 | Thyroid preparation use measurement |
| EFO:0007991 | eosinophil percentage of leukocytes |
| EFO:0004587 | lymphocyte count |
| EFO:0007993 | lymphocyte percentage of leukocytes |
| EFO:0010701 | mean reticulocyte volume |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
41 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Air Pollutants | affects expression, increases abundance, increases expression | 2 |
| Benzo(a)pyrene | affects methylation | 2 |
| Nickel | increases expression | 2 |
| Ozone | affects expression, increases abundance, affects cotreatment, increases expression | 2 |
| aristolochic acid I | decreases expression, increases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| bisphenol F | increases methylation, affects cotreatment | 1 |
| TAK-243 | increases sumoylation | 1 |
| dicrotophos | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| propylparaben | increases expression | 1 |
| bisphenol A | affects cotreatment, increases methylation, decreases methylation | 1 |
| 2,2’-methylenebis(4-methyl-6-tert-butylphenol) | affects expression, affects response to substance | 1 |
| beta-lapachone | increases expression | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| methylparaben | increases expression | 1 |
| sodium arsenite | increases expression | 1 |
| aflatoxin B2 | increases methylation | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| ICG 001 | decreases expression | 1 |
| abrine | increases expression | 1 |
| bisphenol S | affects methylation | 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 |
| Aripiprazole | increases expression, affects cotreatment | 1 |
| Sunitinib | increases expression | 1 |
| Zoledronic Acid | increases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Arsenic | affects expression, affects methylation | 1 |
| Diazinon | 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): basal cell carcinoma