RCN3
gene geneOn this page
Also known as RLP49
Summary
RCN3 (reticulocalbin 3, HGNC:21145) is a protein-coding gene on chromosome 19q13.33, encoding Reticulocalbin-3 (Q96D15). Probable molecular chaperone assisting protein biosynthesis and transport in the endoplasmic reticulum.
Enables calcium ion binding activity. Involved in several processes, including collagen biosynthetic process; positive regulation of peptidase activity; and regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction. Located in endoplasmic reticulum.
Source: NCBI Gene 57333 — RefSeq curated summary.
At a glance
- GWAS associations: 12
- Clinical variants (ClinVar): 63 total
- MANE Select transcript:
NM_020650
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:21145 |
| Approved symbol | RCN3 |
| Name | reticulocalbin 3 |
| Location | 19q13.33 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | RLP49 |
| Ensembl gene | ENSG00000142552 |
| Ensembl biotype | protein_coding |
| OMIM | 619032 |
| Entrez | 57333 |
Gene structure
Transcript identifiers
Ensembl transcripts: 14 — 13 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000270645, ENST00000593483, ENST00000593644, ENST00000597801, ENST00000598833, ENST00000892641, ENST00000892642, ENST00000892643, ENST00000933698, ENST00000933699, ENST00000956869, ENST00000956870, ENST00000956871, ENST00000956872
RefSeq mRNA: 1 — MANE Select: NM_020650
NM_020650
CCDS: CCDS12771
Canonical transcript exons
ENST00000270645 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000954871 | 49528467 | 49528714 |
| ENSE00000954872 | 49534193 | 49534395 |
| ENSE00000954873 | 49537033 | 49537205 |
| ENSE00000954874 | 49539119 | 49539179 |
| ENSE00000954875 | 49542553 | 49542752 |
| ENSE00001289910 | 49528003 | 49528058 |
| ENSE00003110008 | 49543106 | 49543633 |
Expression profiles
Bgee: expression breadth ubiquitous, 259 present calls, max score 99.20.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 44.6813 / max 1181.9112, expressed in 1165 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 177019 | 43.2823 | 1161 |
| 177020 | 1.3990 | 491 |
Top tissues by expression
285 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| stromal cell of endometrium | CL:0002255 | 99.20 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 97.81 | gold quality |
| ascending aorta | UBERON:0001496 | 97.36 | gold quality |
| thoracic aorta | UBERON:0001515 | 97.30 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 96.71 | gold quality |
| right coronary artery | UBERON:0001625 | 96.21 | gold quality |
| left coronary artery | UBERON:0001626 | 95.83 | gold quality |
| cartilage tissue | UBERON:0002418 | 95.79 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 95.72 | gold quality |
| endocervix | UBERON:0000458 | 95.71 | gold quality |
| coronary artery | UBERON:0001621 | 95.02 | gold quality |
| omental fat pad | UBERON:0010414 | 94.83 | gold quality |
| peritoneum | UBERON:0002358 | 94.77 | gold quality |
| right lobe of liver | UBERON:0001114 | 94.76 | gold quality |
| right ovary | UBERON:0002118 | 94.22 | gold quality |
| aorta | UBERON:0000947 | 94.21 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 93.84 | gold quality |
| calcaneal tendon | UBERON:0003701 | 93.76 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 93.62 | gold quality |
| body of uterus | UBERON:0009853 | 93.49 | gold quality |
| ectocervix | UBERON:0012249 | 93.29 | gold quality |
| transverse colon | UBERON:0001157 | 93.15 | gold quality |
| spleen | UBERON:0002106 | 93.12 | gold quality |
| left ovary | UBERON:0002119 | 93.12 | gold quality |
| tibial nerve | UBERON:0001323 | 92.77 | gold quality |
| apex of heart | UBERON:0002098 | 92.62 | gold quality |
| right atrium auricular region | UBERON:0006631 | 92.61 | gold quality |
| tendon | UBERON:0000043 | 92.59 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 92.10 | gold quality |
| popliteal artery | UBERON:0002250 | 92.04 | gold quality |
Single-cell (SCXA)
Detected in 7 experiment(s), a significant marker in 7.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-10287 | yes | 103.86 |
| E-HCAD-1 | yes | 74.85 |
| E-MTAB-8410 | yes | 38.75 |
| E-HCAD-10 | yes | 29.19 |
| E-ANND-3 | yes | 19.57 |
| E-CURD-112 | yes | 18.09 |
| E-MTAB-5061 | yes | 11.93 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
32 targeting RCN3, 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-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-3119 | 99.92 | 71.34 | 2390 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-137-3P | 99.87 | 74.74 | 2401 |
| HSA-MIR-221-5P | 99.86 | 65.45 | 1052 |
| HSA-MIR-8073 | 99.86 | 65.21 | 1118 |
| HSA-MIR-6842-5P | 99.80 | 67.54 | 1587 |
| HSA-MIR-7110-5P | 99.80 | 67.84 | 1712 |
| HSA-MIR-6764-5P | 99.75 | 67.89 | 2304 |
| HSA-MIR-6887-3P | 99.66 | 67.83 | 1778 |
| HSA-MIR-24-3P | 99.59 | 69.97 | 1934 |
| HSA-MIR-1915-3P | 99.58 | 66.79 | 1988 |
| HSA-MIR-1275 | 99.47 | 67.90 | 2749 |
| HSA-MIR-6791-5P | 99.16 | 65.92 | 1844 |
| HSA-MIR-4292 | 99.16 | 65.57 | 1767 |
| HSA-MIR-6884-5P | 99.10 | 64.50 | 1987 |
| HSA-MIR-485-5P | 99.10 | 64.78 | 1889 |
| HSA-MIR-661 | 99.09 | 65.94 | 2062 |
| HSA-MIR-5001-5P | 99.05 | 66.76 | 1972 |
| HSA-MIR-3196 | 98.96 | 63.91 | 326 |
| HSA-MIR-4755-3P | 98.77 | 65.59 | 1915 |
| HSA-MIR-1227-5P | 98.65 | 65.32 | 1549 |
| HSA-MIR-9903 | 98.47 | 66.70 | 748 |
| HSA-MIR-3180 | 98.46 | 64.68 | 348 |
| HSA-MIR-3180-3P | 98.46 | 64.68 | 348 |
| HSA-MIR-6816-5P | 98.46 | 64.35 | 364 |
| HSA-MIR-6829-3P | 97.45 | 64.31 | 1137 |
| HSA-MIR-2467-5P | 97.36 | 67.71 | 991 |
| HSA-MIR-6836-3P | 97.08 | 64.99 | 712 |
| HSA-MIR-6762-5P | 96.55 | 64.62 | 972 |
Literature-anchored findings (GeneRIF, showing 6)
- Autoactivation & secretion of rat PACE4 was increased upon co-expression with recombinant human RCN-3. Selective and transient association of RCN-3 with the precursor of PACE4 plays an important role in the biosynthesis of PACE4. (PMID:16433634)
- RCN3 expression in systemic sclerosis was not statistically significantly different to healthy controls. (PMID:27468573)
- Study identified reticulocalbin-3 (RCN-3) as a common molecule down-regulated by aldosterone (Aldo), galectin-3 and cardiotrophin-1 - key factors in the cardiac remodeling induced by Aldo associated with cardiac hypertrophy and fibrosis. Moreover, RCN-3 emerges as a new potential negative regulator of collagen production. (PMID:28939891)
- genome-wide association study in US: Data suggest, among white subjects, an SNP in RCN3 (rs34459162) and a missense mutation in GCKR (rs1260236) are associated with serum levels of glycated albumin; among black subjects, an intergenic SNP in PRKCA (rs2438321) is associated with fructosamine levels and intronic variant in PRKCA (rs59443763) is associated with glycated albumin levels. (GCKR = glucokinase regulatory protein) (PMID:29844224)
- Rcn3 Suppression Was Responsible for Partial Relief of Emphysema as Shown by Specific Type II Alveolar Epithelial Cell Rcn3 CKO Mouse Model. (PMID:33531801)
- An Expanded Genome-Wide Association Study of Fructosamine Levels Identifies RCN3 as a Replicating Locus and Implicates FCGRT as the Effector Transcript. (PMID:34753797)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | rcn3 | ENSDARG00000037961 |
| mus_musculus | Rcn3 | ENSMUSG00000019539 |
| rattus_norvegicus | Rcn3 | ENSRNOG00000043007 |
| drosophila_melanogaster | scf | FBGN0025682 |
| caenorhabditis_elegans | WBGENE00019760 |
Paralogs (4): RCN1 (ENSG00000049449), SDF4 (ENSG00000078808), RCN2 (ENSG00000117906), CALU (ENSG00000128595)
Protein
Protein identifiers
Reticulocalbin-3 — Q96D15 (reviewed: Q96D15)
Alternative names: EF-hand calcium-binding protein RLP49
All UniProt accessions (4): Q96D15, M0QYB8, M0QZH0, M0QZU3
UniProt curated annotations — full annotation on UniProt →
Function. Probable molecular chaperone assisting protein biosynthesis and transport in the endoplasmic reticulum. Required for the proper biosynthesis and transport of pulmonary surfactant-associated protein A/SP-A, pulmonary surfactant-associated protein D/SP-D and the lipid transporter ABCA3. By regulating both the proper expression and the degradation through the endoplasmic reticulum-associated protein degradation pathway of these proteins plays a crucial role in pulmonary surfactant homeostasis. Has an anti-fibrotic activity by negatively regulating the secretion of type I and type III collagens. This calcium-binding protein also transiently associates with immature PCSK6 and regulates its secretion.
Subunit / interactions. Interacts with PCSK6 (immature form including the propeptide); probably involved in the maturation and the secretion of PCSK6.
Subcellular location. Endoplasmic reticulum lumen.
Tissue specificity. Widely expressed.
Post-translational modifications. Degraded by PCSK6 and other endoproteases including FURIN and PCSK5. N-glycosylated.
Induction. Down-regulated by aldosterone (at protein level). No effect at the transcript level.
Similarity. Belongs to the CREC family.
RefSeq proteins (1): NP_065701* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002048 | EF_hand_dom | Domain |
| IPR011992 | EF-hand-dom_pair | Homologous_superfamily |
| IPR018247 | EF_Hand_1_Ca_BS | Binding_site |
Pfam: PF13202, PF13499
UniProt features (46 total): binding site 29, domain 6, mutagenesis site 3, sequence conflict 2, signal peptide 1, chain 1, glycosylation site 1, sequence variant 1, region of interest 1, short sequence motif 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96D15-F1 | 82.89 | 0.58 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (29): 92; 94; 96; 101; 126; 128; 130; 132; 137; 176; 178; 180 …
Glycosylation sites (1): 140
Mutagenesis-validated functional residues (3):
| Position | Phenotype |
|---|---|
| 86 | decreased function in pcsk6 maturation and/or secretion. |
| 112 | decreased function in pcsk6 maturation and/or secretion. |
| 325–328 | decreased function in pcsk6 maturation and/or secretion. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 161 (showing top):
RRAGTTGT_UNKNOWN, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_LUNG_EPITHELIUM_DEVELOPMENT, GOBP_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GNF2_PTX3, AACWWCAANK_UNKNOWN, GOBP_LIPID_HOMEOSTASIS, GOBP_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY, GOBP_REGULATION_OF_HYDROLASE_ACTIVITY, GOBP_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION, GOBP_PHOSPHATIDYLINOSITOL_3_KINASE_PROTEIN_KINASE_B_SIGNAL_TRANSDUCTION, GOBP_REGULATION_OF_PEPTIDASE_ACTIVITY, GOBP_POSITIVE_REGULATION_OF_PEPTIDASE_ACTIVITY
GO Biological Process (9): protein secretion (GO:0009306), positive regulation of peptidase activity (GO:0010952), protein transport (GO:0015031), collagen biosynthetic process (GO:0032964), ERAD pathway (GO:0036503), surfactant homeostasis (GO:0043129), regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction (GO:0051896), phospholipid homeostasis (GO:0055091), lung epithelium development (GO:0060428)
GO Molecular Function (3): calcium ion binding (GO:0005509), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (2): endoplasmic reticulum (GO:0005783), endoplasmic reticulum lumen (GO:0005788)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| protein transport | 1 |
| secretion by cell | 1 |
| establishment of protein localization to extracellular region | 1 |
| protein localization to extracellular region | 1 |
| peptidase activity | 1 |
| positive regulation of proteolysis | 1 |
| positive regulation of hydrolase activity | 1 |
| regulation of peptidase activity | 1 |
| transport | 1 |
| intracellular protein localization | 1 |
| establishment of protein localization | 1 |
| biosynthetic process | 1 |
| collagen metabolic process | 1 |
| proteasomal protein catabolic process | 1 |
| response to endoplasmic reticulum stress | 1 |
| response to chemical | 1 |
| multicellular organismal-level chemical homeostasis | 1 |
| phosphatidylinositol 3-kinase/protein kinase B signal transduction | 1 |
| regulation of intracellular signal transduction | 1 |
| lipid homeostasis | 1 |
| lung development | 1 |
| epithelium development | 1 |
| metal ion binding | 1 |
| binding | 1 |
| cation binding | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| endoplasmic reticulum | 1 |
| intracellular organelle lumen | 1 |
Protein interactions and networks
STRING
582 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RCN3 | PRRG2 | O14669 | 495 |
| RCN3 | NOSIP | Q9Y314 | 452 |
| RCN3 | EIF3I | Q13347 | 423 |
| RCN3 | LURAP1 | Q96LR2 | 405 |
| RCN3 | FKBP9 | O95302 | 400 |
| RCN3 | RPL13A | P40429 | 376 |
| RCN3 | SRL | Q86TD4 | 376 |
| RCN3 | A0A087WVV2 | A0A087WVV2 | 371 |
| RCN3 | SH3BGRL3 | Q9H299 | 346 |
| RCN3 | FAM234B | A2RU67 | 339 |
| RCN3 | NARS2 | Q96I59 | 335 |
| RCN3 | RNF181 | Q9P0P0 | 327 |
| RCN3 | FKBP10 | Q96AY3 | 323 |
| RCN3 | PSMB2 | P31145 | 322 |
| RCN3 | CPN2 | P22792 | 308 |
IntAct
41 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RCN3 | SUFU | psi-mi:“MI:0915”(physical association) | 0.700 |
| SUFU | RCN3 | psi-mi:“MI:0915”(physical association) | 0.700 |
| MBD3 | RCN3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RCN3 | PACRGL | psi-mi:“MI:0915”(physical association) | 0.560 |
| PACRGL | RCN3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF417 | RCN3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DNAAF19 | RCN3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MYO15B | RCN3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NAA10 | RCN3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PIP | TBKBP1 | psi-mi:“MI:0914”(association) | 0.530 |
| RCN3 | STAT6 | psi-mi:“MI:0915”(physical association) | 0.370 |
| RCN3 | MKNK1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| RCN3 | PRUNE2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| RCN3 | HID1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| RCN3 | KLHL42 | psi-mi:“MI:0915”(physical association) | 0.370 |
| RCN3 | psi-mi:“MI:0915”(physical association) | 0.370 | |
| XRCC3 | DERL1 | psi-mi:“MI:0914”(association) | 0.350 |
| SNAP23 | psi-mi:“MI:0914”(association) | 0.350 | |
| EMID1 | NDUFS4 | psi-mi:“MI:0914”(association) | 0.350 |
| POMGNT2 | FAM83G | psi-mi:“MI:0914”(association) | 0.350 |
| RNASE3 | RNASEH1 | psi-mi:“MI:0914”(association) | 0.350 |
| SCCPDH | IPO5 | psi-mi:“MI:0914”(association) | 0.350 |
| SUFU | RCN3 | psi-mi:“MI:0915”(physical association) | 0.000 |
| MBD3 | RCN3 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (31): RCN3 (Two-hybrid), PACRGL (Two-hybrid), PRUNE2 (Two-hybrid), RCN3 (Two-hybrid), HID1 (Two-hybrid), KLHL42 (Two-hybrid), RCN3 (Affinity Capture-Western), RCN3 (Affinity Capture-MS), RCN3 (Affinity Capture-MS), RCN3 (Co-fractionation), RCN3 (Two-hybrid), RCN3 (Two-hybrid), RCN3 (Two-hybrid), CCDC103 (Two-hybrid), ZNF417 (Two-hybrid)
ESM2 similar proteins: A0A6I8RMG7, A0AVX7, A2VEI2, A4IG32, A5D7A0, B5X186, B5X4E0, I6L9G5, J3S9D9, O35783, O35887, O93390, O93434, P07214, P09486, P13213, P16975, P20112, P22676, P36377, P36378, P41044, P49257, P61022, P61023, P79881, Q05186, Q14257, Q15293, Q28BT4, Q2KJ39, Q3T0K1, Q4U471, Q5R767, Q5R7F0, Q5ZM44, Q62703, Q62902, Q6IP82, Q6IQP3
Diamond homologs: B5X186, B5X4E0, I6L9G5, J3S9D9, O35783, O35887, O43852, O93434, P02597, P04464, Q05186, Q14257, Q15293, Q28BT4, Q2KJ39, Q3T0K1, Q4U471, Q5RDD8, Q62703, Q66JA6, Q6IP82, Q6IQP3, Q6XLQ7, Q7SXV9, Q8BH97, Q8BP92, Q96D15, Q9FKW4, P42529, Q5ZKE5, Q03975, Q9M7R0
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
63 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 50 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1157 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:49528057:GG:G | donor_gain | 1.0000 |
| 19:49528058:GG:G | donor_gain | 1.0000 |
| 19:49528065:G:GT | donor_gain | 1.0000 |
| 19:49528695:G:GT | donor_gain | 1.0000 |
| 19:49528696:A:T | donor_gain | 1.0000 |
| 19:49528712:GGG:G | donor_gain | 1.0000 |
| 19:49528713:GG:G | donor_gain | 1.0000 |
| 19:49528713:GGG:G | donor_gain | 1.0000 |
| 19:49528714:GG:G | donor_gain | 1.0000 |
| 19:49528715:G:GG | donor_gain | 1.0000 |
| 19:49528715:G:T | donor_loss | 1.0000 |
| 19:49528716:T:A | donor_loss | 1.0000 |
| 19:49534191:AGGCG:A | acceptor_gain | 1.0000 |
| 19:49534192:GGCGG:G | acceptor_gain | 1.0000 |
| 19:49537028:CCCAG:C | acceptor_loss | 1.0000 |
| 19:49537031:A:AG | acceptor_gain | 1.0000 |
| 19:49537031:AG:A | acceptor_gain | 1.0000 |
| 19:49537032:G:GA | acceptor_gain | 1.0000 |
| 19:49537032:GG:G | acceptor_gain | 1.0000 |
| 19:49537032:GGT:G | acceptor_gain | 1.0000 |
| 19:49537032:GGTGA:G | acceptor_gain | 1.0000 |
| 19:49537201:TTGCT:T | donor_gain | 1.0000 |
| 19:49537202:TGCTG:T | donor_loss | 1.0000 |
| 19:49537203:GCT:G | donor_gain | 1.0000 |
| 19:49537204:CT:C | donor_gain | 1.0000 |
| 19:49537204:CTGT:C | donor_loss | 1.0000 |
| 19:49537205:TGTG:T | donor_loss | 1.0000 |
| 19:49537206:G:GG | donor_gain | 1.0000 |
| 19:49537206:GTG:G | donor_loss | 1.0000 |
| 19:49537207:T:A | donor_loss | 1.0000 |
AlphaMissense
2162 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:49542596:G:C | W241C | 1.000 |
| 19:49542596:G:T | W241C | 1.000 |
| 19:49542727:T:C | L285P | 1.000 |
| 19:49543152:T:C | F309S | 1.000 |
| 19:49543152:T:G | F309C | 1.000 |
| 19:49534255:T:C | L102P | 0.999 |
| 19:49537101:T:C | F172L | 0.999 |
| 19:49537102:T:C | F172S | 0.999 |
| 19:49537103:C:A | F172L | 0.999 |
| 19:49537103:C:G | F172L | 0.999 |
| 19:49537111:C:A | A175D | 0.999 |
| 19:49537150:T:C | L188P | 0.999 |
| 19:49539159:T:A | V220D | 0.999 |
| 19:49542594:T:A | W241R | 0.999 |
| 19:49542594:T:C | W241R | 0.999 |
| 19:49542618:T:C | F249L | 0.999 |
| 19:49542619:T:C | F249S | 0.999 |
| 19:49542619:T:G | F249C | 0.999 |
| 19:49542620:C:A | F249L | 0.999 |
| 19:49542620:C:G | F249L | 0.999 |
| 19:49542680:G:C | W269C | 0.999 |
| 19:49542680:G:T | W269C | 0.999 |
| 19:49542717:G:C | A282P | 0.999 |
| 19:49542723:C:G | H284D | 0.999 |
| 19:49543151:T:C | F309L | 0.999 |
| 19:49543153:T:A | F309L | 0.999 |
| 19:49543153:T:G | F309L | 0.999 |
| 19:49543160:A:C | S312R | 0.999 |
| 19:49543162:T:A | S312R | 0.999 |
| 19:49543162:T:G | S312R | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000196721 (19:49532378 T>G), RS1000248030 (19:49529403 A>G,T), RS1000356116 (19:49540893 G>A,T), RS1000376443 (19:49535002 C>T), RS1000930793 (19:49539382 A>C), RS1001179655 (19:49526866 C>T), RS1001584499 (19:49534640 A>G), RS1001660000 (19:49534392 C>A,G,T), RS1001804090 (19:49539878 A>C), RS1002056313 (19:49528301 C>A,T), RS1002122534 (19:49531229 G>A), RS1002168104 (19:49540201 G>T), RS1002188351 (19:49535229 A>G,T), RS1002463358 (19:49540392 G>A), RS1002665838 (19:49533231 C>G)
Disease associations
OMIM: gene MIM:619032 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
12 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000583_10 | Hematological and biochemical traits | 3.000000e-08 |
| GCST002539_91 | Schizophrenia | 5.000000e-08 |
| GCST004615_127 | Hemoglobin concentration | 1.000000e-11 |
| GCST006056_1 | Fructosamine levels | 5.000000e-09 |
| GCST006058_1 | Total glycated albumin levels | 4.000000e-08 |
| GCST008839_380 | Height | 4.000000e-10 |
| GCST010241_67 | Apolipoprotein A1 levels | 5.000000e-14 |
| GCST012619_1 | Fructosamine levels | 6.000000e-11 |
| GCST90002383_292 | Hematocrit | 4.000000e-13 |
| GCST90002384_461 | Hemoglobin | 1.000000e-10 |
| GCST90002397_437 | Mean spheric corpuscular volume | 2.000000e-11 |
| GCST90017143_1 | Fructosamine levels | 5.000000e-11 |
EFO canonical traits (6, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004747 | protein measurement |
| EFO:0004509 | hemoglobin measurement |
| EFO:0009303 | fructosamine measurement |
| EFO:0009305 | total glycated albumin |
| EFO:0004614 | apolipoprotein A 1 measurement |
| EFO:0004348 | hematocrit |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
43 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression, increases methylation | 6 |
| Air Pollutants | increases abundance, decreases expression, increases expression, affects expression | 3 |
| tobacco tar | decreases expression, decreases reaction | 2 |
| Benzo(a)pyrene | decreases expression, increases methylation | 2 |
| Tobacco Smoke Pollution | decreases expression, affects expression | 2 |
| Aflatoxin B1 | increases methylation, decreases expression | 2 |
| Particulate Matter | decreases expression, increases abundance, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| propionaldehyde | increases expression | 1 |
| bisphenol A | decreases expression | 1 |
| sodium arsenate | decreases expression | 1 |
| tris(2-butoxyethyl) phosphate | affects expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| sodium arsenite | increases expression | 1 |
| butyraldehyde | increases expression | 1 |
| benzo(e)pyrene | decreases methylation | 1 |
| diallyl disulfide | decreases expression, decreases reaction | 1 |
| pentanal | increases expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| entinostat | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| bisphenol B | increases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| bisphenol S | increases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Arsenic Trioxide | increases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Aldehydes | 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.