SMIM1
gene geneOn this page
Also known as Vel
Summary
SMIM1 (small integral membrane protein 1 (Vel blood group), HGNC:44204) is a protein-coding gene on chromosome 1p36.32, encoding Small integral membrane protein 1 (B2RUZ4). Regulator of red blood cell formation.
This gene encodes a small, conserved protein that participates in red blood cell formation. The encoded protein is localized to the cell membrane and is the antigen for the Vel blood group. Alternative splicing results in different transcript variants that encode the same protein.
Source: NCBI Gene 388588 — RefSeq curated summary.
At a glance
- GWAS associations: 27
- Clinical variants (ClinVar): 11 total
- MANE Select transcript:
NM_001288583
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:44204 |
| Approved symbol | SMIM1 |
| Name | small integral membrane protein 1 (Vel blood group) |
| Location | 1p36.32 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | Vel |
| Ensembl gene | ENSG00000235169 |
| Ensembl biotype | protein_coding |
| OMIM | 615242 |
| Entrez | 388588 |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 11 protein_coding
ENST00000444870, ENST00000452264, ENST00000561886, ENST00000642557, ENST00000863967, ENST00000863968, ENST00000863969, ENST00000863970, ENST00000863971, ENST00000966426, ENST00000966427
RefSeq mRNA: 4 — MANE Select: NM_001288583
NM_001163724, NM_001288583, NM_001379690, NM_001379691
CCDS: CCDS57966
Canonical transcript exons
ENST00000642557 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001646997 | 3773063 | 3773181 |
| ENSE00001760122 | 3775299 | 3775483 |
| ENSE00003823375 | 3775795 | 3775956 |
| ENSE00003825847 | 3772749 | 3772788 |
Expression profiles
Bgee: expression breadth ubiquitous, 168 present calls, max score 92.84.
FANTOM5 (CAGE): breadth broad, TPM avg 3.0967 / max 154.6030, expressed in 883 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 327 | 1.3378 | 325 |
| 325 | 1.2119 | 553 |
| 326 | 0.5469 | 297 |
Top tissues by expression
244 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right testis | UBERON:0004534 | 92.84 | gold quality |
| left testis | UBERON:0004533 | 92.28 | gold quality |
| right atrium auricular region | UBERON:0006631 | 91.88 | gold quality |
| cardiac atrium | UBERON:0002081 | 90.73 | gold quality |
| testis | UBERON:0000473 | 90.02 | gold quality |
| parotid gland | UBERON:0001831 | 88.58 | gold quality |
| apex of heart | UBERON:0002098 | 87.83 | gold quality |
| adenohypophysis | UBERON:0002196 | 85.33 | gold quality |
| blood | UBERON:0000178 | 84.90 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 84.21 | gold quality |
| right lobe of liver | UBERON:0001114 | 84.15 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 84.15 | gold quality |
| pituitary gland | UBERON:0000007 | 83.57 | gold quality |
| bone marrow | UBERON:0002371 | 82.99 | gold quality |
| bone marrow cell | CL:0002092 | 82.38 | gold quality |
| heart | UBERON:0000948 | 81.62 | gold quality |
| pancreatic ductal cell | CL:0002079 | 81.50 | silver quality |
| heart left ventricle | UBERON:0002084 | 81.40 | gold quality |
| kidney epithelium | UBERON:0004819 | 81.31 | gold quality |
| cardiac ventricle | UBERON:0002082 | 81.15 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 81.06 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 80.80 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 79.99 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 79.66 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 79.59 | gold quality |
| minor salivary gland | UBERON:0001830 | 79.55 | gold quality |
| upper arm skin | UBERON:0004263 | 79.38 | gold quality |
| body of pancreas | UBERON:0001150 | 78.95 | gold quality |
| left ovary | UBERON:0002119 | 78.79 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 78.76 | gold quality |
Single-cell (SCXA)
Detected in 15 experiment(s), a significant marker in 12.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-9388 | yes | 330.54 |
| E-MTAB-8205 | yes | 201.64 |
| E-HCAD-4 | yes | 160.47 |
| E-HCAD-6 | yes | 60.21 |
| E-CURD-112 | yes | 52.86 |
| E-MTAB-10042 | yes | 45.35 |
| E-HCAD-10 | yes | 30.29 |
| E-GEOD-134144 | yes | 29.46 |
| E-MTAB-3929 | yes | 26.23 |
| E-MTAB-9221 | yes | 12.21 |
| E-ANND-3 | yes | 11.30 |
| E-HCAD-9 | yes | 7.85 |
| E-MTAB-9067 | no | 3.23 |
| E-MTAB-9801 | no | 2.74 |
| E-MTAB-9467 | no | 1.11 |
Regulation
Is transcription factor: no
Literature-anchored findings (GeneRIF, showing 14)
- A cohort of 70 Vel- individuals was found to be uniformly homozygous for a 17 nucleotide deletion in the coding sequence of SMIM1. (PMID:23505126)
- Loss of SMIM1 is associated with reduction in red blood cell formation. (PMID:23563606)
- Loss of SMIM1 is associated with reduction in red blood cell formation. (PMID:23563608)
- Weak Vel expression levels are caused by multiple genetic factors in SMIM1 and probably also by other genetic or environmental factors. (PMID:25647324)
- SMIM1 carries the Vel antigen as a type II membrane protein with a predicted C-terminal extracellular domain of only 3-12 amino acids (PMID:26452714)
- Alleles that initially entered the population have been maintained within the population. The c.64_80del null allele of SMIM1 is one such allele, thus having implications for transfusion medicine and child or maternal health. (PMID:26666208)
- Among the 448 samples analysed, 10 (2.23%) harboured the 17 bp deletion of the gene SMIM1, and all were heterozygote for the SMIM1*64_80 del allele. (PMID:27328373)
- rs1175550G and to a lesser extent rs143702418C independently increase SMIM1 and Vel antigen expression. (PMID:28084402)
- the present study demonstrated that although the SMIM1*64_80del allele is responsible for some variation of Vel phenotype in this donor population, Vel expression is also controlled by molecular changes in SMIM1 intron 2. (PMID:29517970)
- Identification of a novel single-nucleotide mutation in SMIM1 gene that results in low Vel antigen expression. (PMID:31218697)
- Dimerization of small integral membrane protein 1 promotes cell surface presentation of the Vel blood group epitope. (PMID:31879955)
- SMIM1, carrier of the Vel blood group, is a tail-anchored transmembrane protein and readily forms homodimers in a cell-free system. (PMID:32301496)
- SMIM1 missense mutations exert their effect on wild type Vel expression late in erythroid differentiation. (PMID:33128268)
- SMIM1 absence is associated with reduced energy expenditure and excess weight. (PMID:38906141)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Smim1 | ENSMUSG00000078350 |
| rattus_norvegicus | Smim1 | ENSRNOG00000080057 |
Protein
Protein identifiers
Small integral membrane protein 1 — B2RUZ4 (reviewed: B2RUZ4)
Alternative names: Vel blood group antigen
All UniProt accessions (4): B2RUZ4, A0A2R8Y7R4, H3BS66, M4WDD3
UniProt curated annotations — full annotation on UniProt →
Function. Regulator of red blood cell formation.
Subunit / interactions. Homooligomer; disulfide-linked.
Subcellular location. Cell membrane.
Tissue specificity. Highly expressed in the bone marrow and expressed at lower levels in non-hematopoietic tissues. Highly expressed in erythroleukemia cell lines. Up-regulated in CD34+ hematopoietic progenitors cultured toward red blood cells.
Domain organisation. The extracellular domain carries the Vel antigen.
Polymorphism. SMIM1 is responsible for the Vel blood group system (VEL) [MIM:615264]. The Vel antigen is present on red blood cells from all people except rare Vel-negative individuals who can form antibodies to Vel in response to transfusion or pregnancy. These antibodies may cause severe hemolytic reactions in blood recipients. In most cases, Vel-negative individuals are homozygous for a 17-nucleotide frameshift deletion in exon 3. In some cases, Vel-negative are heterozygous for the 17-nucleotide frameshift deletion and a missense variant at position 51.
Similarity. Belongs to the SMIM1 family.
RefSeq proteins (4): NP_001157196, NP_001275512, NP_001366619, NP_001366620 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR031744 | SMIM1 | Family |
Pfam: PF15875
UniProt features (21 total): mutagenesis site 7, modified residue 5, topological domain 2, sequence variant 2, region of interest 2, chain 1, transmembrane region 1, compositionally biased region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-B2RUZ4-F1 | 70.79 | 0.23 |
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 (5): 22, 27, 1, 6, 17
Mutagenesis-validated functional residues (7):
| Position | Phenotype |
|---|---|
| 6 | no effect on cell membrane localization; when associated with a-17; a-22 and a-27. no effect on cell surface expression |
| 17 | no effect on cell membrane localization; when associated with a-6; a-22 and a-27. no effect on cell surface expression o |
| 22 | no effect on cell membrane localization; when associated with a-6; a-17 and a-27. no effect on cell surface expression o |
| 27 | no effect on cell membrane localization; when associated with a-6; a-17 and a-22. no effect on cell surface expression o |
| 35 | no effect on cell surface expression of the vel antigen; when associated with s-43. |
| 43 | no effect on cell surface expression of the vel antigen; when associated with s-35. |
| 76–78 | loss of cell-surface expression of the vel antigen. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 52 (showing top):
GOBP_MYELOID_CELL_DIFFERENTIATION, GOBP_MYELOID_CELL_HOMEOSTASIS, GOBP_MYELOID_CELL_DEVELOPMENT, GOBP_ERYTHROCYTE_HOMEOSTASIS, GOCC_CELL_SURFACE, CHANDRAN_METASTASIS_DN, GUO_HEX_TARGETS_DN, GOBP_MULTICELLULAR_ORGANISMAL_LEVEL_HOMEOSTASIS, GOBP_ERYTHROCYTE_DEVELOPMENT, GOBP_HOMEOSTATIC_PROCESS, GOMF_PROTEIN_DIMERIZATION_ACTIVITY, GOMF_PROTEIN_HOMODIMERIZATION_ACTIVITY, GOBP_HOMEOSTASIS_OF_NUMBER_OF_CELLS, chr1p36, CHYLA_CBFA2T3_TARGETS_DN
GO Biological Process (0):
GO Molecular Function (2): protein homodimerization activity (GO:0042803), protein binding (GO:0005515)
GO Cellular Component (3): plasma membrane (GO:0005886), cell surface (GO:0009986), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| identical protein binding | 1 |
| protein dimerization activity | 1 |
| binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
Protein interactions and networks
STRING
212 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SMIM1 | HDX | Q7Z353 | 572 |
| SMIM1 | SMIM3 | Q9BZL3 | 530 |
| SMIM1 | NME7 | Q9Y5B8 | 463 |
| SMIM1 | SMIM2 | Q9BVW6 | 446 |
| SMIM1 | PRRT4 | C9JH25 | 430 |
| SMIM1 | DOK3 | Q7L591 | 388 |
| SMIM1 | ATP6AP1L | Q52LC2 | 388 |
| SMIM1 | EFCAB8 | A8MWE9 | 377 |
| SMIM1 | MTG1 | Q9BT17 | 366 |
| SMIM1 | NPL | Q9BXD5 | 348 |
| SMIM1 | VPS37A | Q8NEZ2 | 343 |
| SMIM1 | TRO | Q12816 | 325 |
| SMIM1 | GATA1 | P15976 | 323 |
| SMIM1 | RHCE | P18577 | 318 |
| SMIM1 | KEL | P23276 | 314 |
IntAct
172 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SMIM1 | TMX2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SMIM1 | LHFPL5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SMIM1 | HACD2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SMIM1 | CYB561 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SMIM1 | COMT | psi-mi:“MI:0915”(physical association) | 0.560 |
| SMIM1 | LRRC4C | psi-mi:“MI:0915”(physical association) | 0.560 |
| SMIM1 | STING1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SMIM1 | NDUFAF2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SMIM1 | HSD17B13 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SMIM1 | SLC26A11 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SMIM1 | ANKS6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SMIM1 | STX1A | psi-mi:“MI:0915”(physical association) | 0.560 |
| SMIM1 | MFF | psi-mi:“MI:0915”(physical association) | 0.560 |
| SMIM1 | CD74 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SMIM1 | BCL2L13 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SMIM1 | BIK | psi-mi:“MI:0915”(physical association) | 0.560 |
| SMIM1 | NAALAD2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SDC3 | SMIM1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SMIM1 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| SMIM1 | CREB3L1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SMIM1 | TMPRSS2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SMIM1 | AQP6 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (62): SMIM1 (Two-hybrid), SMIM1 (Two-hybrid), SMIM1 (Two-hybrid), SMIM1 (Two-hybrid), SMIM1 (Two-hybrid), SMIM1 (Two-hybrid), SMIM1 (Two-hybrid), SMIM1 (Two-hybrid), SMIM1 (Two-hybrid), SMIM1 (Two-hybrid), SMIM1 (Two-hybrid), SMIM1 (Two-hybrid), SMIM1 (Two-hybrid), SMIM1 (Two-hybrid), SMIM1 (Two-hybrid)
ESM2 similar proteins: A4IG66, B2RUZ4, B3DHH5, F1NVK6, F1Q930, O70367, O76024, O77770, O95772, P02683, P0C8K7, P42857, P56695, P84889, Q0P4Z1, Q15053, Q1JPG0, Q28DG6, Q2TBG9, Q4QQM5, Q4R5Q3, Q56JY4, Q5BLE2, Q5M836, Q5RF46, Q5XJS0, Q5ZKK0, Q62092, Q6GR21, Q6IQA2, Q6NRB7, Q6P606, Q7L4E1, Q7Z3D4, Q8BG50, Q8BK03, Q8BXV2, Q8IUW5, Q8K2J7, Q8NAN2
Diamond homologs: B2RUZ4, B3DHH5, P0C8K7
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
11 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 8 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
642 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:3773169:C:T | donor_gain | 0.9900 |
| 1:3773180:GG:G | donor_gain | 0.9900 |
| 1:3773181:GG:G | donor_gain | 0.9900 |
| 1:3773181:GGTAA:G | donor_loss | 0.9900 |
| 1:3773182:GTAA:G | donor_loss | 0.9900 |
| 1:3773183:T:A | donor_loss | 0.9900 |
| 1:3773653:G:GT | donor_gain | 0.9900 |
| 1:3773677:G:GT | donor_gain | 0.9900 |
| 1:3773725:C:G | donor_gain | 0.9900 |
| 1:3775297:A:AG | acceptor_gain | 0.9900 |
| 1:3775298:G:GG | acceptor_gain | 0.9900 |
| 1:3775387:A:T | donor_gain | 0.9900 |
| 1:3775405:G:GG | donor_gain | 0.9900 |
| 1:3773182:G:GG | donor_gain | 0.9800 |
| 1:3773184:AAGT:A | donor_loss | 0.9800 |
| 1:3773739:A:T | donor_gain | 0.9800 |
| 1:3775298:GT:G | acceptor_gain | 0.9800 |
| 1:3775298:GTGA:G | acceptor_gain | 0.9800 |
| 1:3773724:GCTGG:G | donor_gain | 0.9700 |
| 1:3773646:G:GT | donor_gain | 0.9600 |
| 1:3775298:GTGAA:G | acceptor_gain | 0.9600 |
| 1:3772866:GC:G | donor_gain | 0.9500 |
| 1:3773753:G:GA | donor_gain | 0.9500 |
| 1:3773750:G:GA | donor_gain | 0.9400 |
| 1:3775793:AG:A | acceptor_gain | 0.9400 |
| 1:3775794:GG:G | acceptor_gain | 0.9400 |
| 1:3772839:C:T | donor_gain | 0.9200 |
| 1:3773179:CGG:C | donor_gain | 0.9200 |
| 1:3773180:GGG:G | donor_gain | 0.9200 |
| 1:3773637:TC:T | donor_gain | 0.9200 |
AlphaMissense
471 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:3775883:G:C | G67R | 0.908 |
| 1:3775884:G:A | G67D | 0.896 |
| 1:3775865:T:A | W61R | 0.877 |
| 1:3775865:T:C | W61R | 0.877 |
| 1:3775412:G:C | W13C | 0.860 |
| 1:3775412:G:T | W13C | 0.860 |
| 1:3775896:G:A | G71D | 0.850 |
| 1:3775874:T:C | F64L | 0.822 |
| 1:3775876:C:A | F64L | 0.822 |
| 1:3775876:C:G | F64L | 0.822 |
| 1:3775895:G:C | G71R | 0.816 |
| 1:3775893:C:A | T70K | 0.765 |
| 1:3775886:T:G | Y68D | 0.747 |
| 1:3775840:G:C | K52N | 0.742 |
| 1:3775840:G:T | K52N | 0.742 |
| 1:3775851:G:A | G56D | 0.723 |
| 1:3775898:T:G | Y72D | 0.721 |
| 1:3775862:T:C | F60L | 0.714 |
| 1:3775864:C:A | F60L | 0.714 |
| 1:3775864:C:G | F60L | 0.714 |
| 1:3775410:T:A | W13R | 0.706 |
| 1:3775410:T:C | W13R | 0.706 |
| 1:3775895:G:T | G71C | 0.693 |
| 1:3775875:T:C | F64S | 0.673 |
| 1:3775893:C:G | T70R | 0.669 |
| 1:3775857:C:A | A58D | 0.666 |
| 1:3775883:G:T | G67C | 0.663 |
| 1:3775884:G:T | G67V | 0.663 |
| 1:3775886:T:C | Y68H | 0.658 |
| 1:3775896:G:T | G71V | 0.642 |
dbSNP variants (sampled 300 via entrez): RS1000308514 (1:3772261 C>T), RS1001074497 (1:3771965 C>A), RS1001232288 (1:3773192 G>A), RS1001263621 (1:3773512 C>G,T), RS1002088396 (1:3770981 A>G), RS1002229863 (1:3774464 C>T), RS1002280807 (1:3774685 C>G,T), RS1002280963 (1:3776008 C>A,G,T), RS1002886403 (1:3775167 T>C), RS1003825750 (1:3776220 G>A,C), RS1003835618 (1:3776402 G>C), RS1004033438 (1:3771083 G>C), RS1004171101 (1:3774419 G>A), RS1004489578 (1:3771297 G>A,C), RS1004827898 (1:3775258 A>C,G)
Disease associations
OMIM: gene MIM:615242 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): breast ductal adenocarcinoma (MONDO:0005590)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
27 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004601_1 | Red blood cell count | 9.000000e-13 |
| GCST004605_1 | Mean corpuscular hemoglobin concentration | 1.000000e-43 |
| GCST004611_101 | High light scatter reticulocyte count | 1.000000e-49 |
| GCST004612_191 | High light scatter reticulocyte percentage of red cells | 2.000000e-43 |
| GCST004619_15 | Reticulocyte fraction of red cells | 3.000000e-34 |
| GCST004621_1 | Red cell distribution width | 1.000000e-17 |
| GCST004622_99 | Reticulocyte count | 2.000000e-42 |
| GCST004628_1 | Immature fraction of reticulocytes | 3.000000e-27 |
| GCST006804_195 | Red cell distribution width | 5.000000e-12 |
| GCST010083_47 | Hemoglobin levels | 1.000000e-28 |
| GCST90002383_142 | Hematocrit | 9.000000e-10 |
| GCST90002384_523 | Hemoglobin | 2.000000e-33 |
| GCST90002385_597 | High light scatter reticulocyte count | 8.000000e-85 |
| GCST90002385_598 | High light scatter reticulocyte count | 2.000000e-17 |
| GCST90002386_302 | High light scatter reticulocyte percentage of red cells | 5.000000e-72 |
| GCST90002386_303 | High light scatter reticulocyte percentage of red cells | 5.000000e-16 |
| GCST90002387_188 | Immature fraction of reticulocytes | 1.000000e-38 |
| GCST90002391_52 | Mean corpuscular hemoglobin concentration | 8.000000e-93 |
| GCST90002392_147 | Mean corpuscular volume | 7.000000e-20 |
| GCST90002397_168 | Mean spheric corpuscular volume | 6.000000e-80 |
| GCST90002403_29 | Red blood cell count | 3.000000e-24 |
| GCST90002404_424 | Red cell distribution width | 4.000000e-46 |
| GCST90002404_450 | Red cell distribution width | 5.000000e-42 |
| GCST90002405_587 | Reticulocyte count | 9.000000e-79 |
| GCST90002405_588 | Reticulocyte count | 1.000000e-16 |
| GCST90002406_126 | Reticulocyte fraction of red cells | 1.000000e-64 |
| GCST90002406_127 | Reticulocyte fraction of red cells | 5.000000e-15 |
EFO canonical traits (6, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004305 | erythrocyte count |
| EFO:0004528 | mean corpuscular hemoglobin concentration |
| EFO:0007986 | reticulocyte count |
| EFO:0009188 | Red cell distribution width |
| EFO:0004509 | hemoglobin measurement |
| EFO:0004348 | hematocrit |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D018270 | Carcinoma, Ductal, Breast | C04.557.470.200.025.232.500; C04.557.470.615.132.500; C04.588.180.390; C17.800.090.500.390 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
24 total (human), top 24 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Air Pollutants | decreases expression, increases abundance, increases expression | 2 |
| Particulate Matter | decreases expression, decreases reaction, increases abundance, increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| afuresertib | increases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| propionaldehyde | increases expression | 1 |
| ICG 001 | increases expression | 1 |
| abrine | decreases expression | 1 |
| 2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide | decreases expression, decreases reaction | 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 | increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Vehicle Emissions | decreases expression, decreases reaction | 1 |
| Benzo(a)pyrene | affects methylation, decreases methylation | 1 |
| Caffeine | increases phosphorylation | 1 |
| Copper | affects abundance | 1 |
| Smoke | decreases expression, increases abundance | 1 |
| Thiram | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Urethane | decreases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Okadaic Acid | decreases expression | 1 |
| S-Nitrosoglutathione | increases expression | 1 |
Clinical trials (associated diseases)
11 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT03414970 | PHASE3 | ACTIVE_NOT_RECRUITING | Hypofractionated Radiation Therapy After Mastectomy in Preventing Recurrence in Patients With Stage IIa-IIIa Breast Cancer |
| NCT00461344 | PHASE2 | TERMINATED | Docetaxel + Doxorubicin as Neoadjuvant Chemotherapy in Patients With Breast Cancer |
| NCT07499999 | PHASE2 | NOT_YET_RECRUITING | Randomized Double-Blind Phase II Trial of Baby Exemestane Versus Baby Tamoxifen in Post-Menopausal Women at High Risk for Breast Cancer |
| NCT00637364 | PHASE1/PHASE2 | SUSPENDED | High Intensity Focused Ultrasound Tumor Treatment for Pancreatic Cancer Pain |
| NCT02779855 | PHASE1/PHASE2 | COMPLETED | Talimogene Laherparepvec in Combination With Neoadjuvant Chemotherapy in Triple Negative Breast Cancer |
| NCT01753908 | EARLY_PHASE1 | COMPLETED | Broccoli Sprout Extract in Treating Patients With Breast Cancer |
| NCT01796041 | EARLY_PHASE1 | COMPLETED | Intraoperative Imaging of Breast Cancer With Indocyanine Green |
| NCT01208974 | Not specified | ACTIVE_NOT_RECRUITING | Nipple-Areola Complex (NAC) Irradiation After Nipple-Sparing Mastectomy and Reconstruction |
| NCT01875198 | Not specified | TERMINATED | Oncologic Impact of Splenectomy-omitting Radical Pancreatectomy in Well-selected Left-sided Pancreatic Cancer |
| NCT03543397 | Not specified | UNKNOWN | MRI in Ductal Carcinoma in Situ (DCIS) |
| NCT03834532 | Not specified | COMPLETED | Living Well After Breast Surgery |
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.