LMCD1
gene geneOn this page
Summary
LMCD1 (LIM and cysteine rich domains 1, HGNC:6633) is a protein-coding gene on chromosome 3p25.3, encoding LIM and cysteine-rich domains protein 1 (Q9NZU5). Transcriptional cofactor that restricts GATA6 function by inhibiting DNA-binding, resulting in repression of GATA6 transcriptional activation of downstream target genes.
This gene encodes a member of the LIM-domain family of zinc finger proteins. The encoded protein contains an N-terminal cysteine-rich domain and two C-terminal LIM domains. The presence of LIM domains suggests involvement in protein-protein interactions. The protein may act as a co-regulator of transcription along with other transcription factors. Alternate splicing results in multiple transcript variants of this gene.
Source: NCBI Gene 29995 — RefSeq curated summary.
At a glance
- GWAS associations: 10
- Clinical variants (ClinVar): 87 total — 1 pathogenic
- MANE Select transcript:
NM_014583
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:6633 |
| Approved symbol | LMCD1 |
| Name | LIM and cysteine rich domains 1 |
| Location | 3p25.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000071282 |
| Ensembl biotype | protein_coding |
| OMIM | 604859 |
| Entrez | 29995 |
Gene structure
Transcript identifiers
Ensembl transcripts: 12 — 10 protein_coding, 1 nonsense_mediated_decay, 1 retained_intron
ENST00000157600, ENST00000397386, ENST00000415597, ENST00000426878, ENST00000454244, ENST00000456506, ENST00000470776, ENST00000880274, ENST00000921338, ENST00000957327, ENST00000957328, ENST00000957329
RefSeq mRNA: 4 — MANE Select: NM_014583
NM_001278233, NM_001278234, NM_001278235, NM_014583
CCDS: CCDS33688, CCDS63532, CCDS63533, CCDS63534
Canonical transcript exons
ENST00000157600 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001651667 | 8567440 | 8574668 |
| ENSE00001864301 | 8501823 | 8501980 |
| ENSE00003470072 | 8537185 | 8537440 |
| ENSE00003473509 | 8565432 | 8565647 |
| ENSE00003643898 | 8548568 | 8548903 |
| ENSE00003735520 | 8532737 | 8532825 |
Expression profiles
Bgee: expression breadth ubiquitous, 257 present calls, max score 99.21.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 33.7936 / max 1017.8956, expressed in 1452 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 35186 | 24.2897 | 1313 |
| 35187 | 6.0778 | 1286 |
| 35188 | 1.9310 | 953 |
| 35189 | 0.8814 | 568 |
| 35190 | 0.5799 | 329 |
| 35185 | 0.0339 | 8 |
Top tissues by expression
283 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| hindlimb stylopod muscle | UBERON:0004252 | 99.21 | gold quality |
| ascending aorta | UBERON:0001496 | 99.19 | gold quality |
| thoracic aorta | UBERON:0001515 | 99.18 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 99.14 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 98.93 | gold quality |
| right lung | UBERON:0002167 | 98.75 | gold quality |
| biceps brachii | UBERON:0001507 | 98.50 | gold quality |
| aorta | UBERON:0000947 | 98.48 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 98.42 | gold quality |
| popliteal artery | UBERON:0002250 | 98.01 | gold quality |
| tibial artery | UBERON:0007610 | 98.00 | gold quality |
| body of tongue | UBERON:0011876 | 97.88 | gold quality |
| gastrocnemius | UBERON:0001388 | 97.73 | gold quality |
| muscle of leg | UBERON:0001383 | 97.65 | gold quality |
| vena cava | UBERON:0004087 | 97.58 | gold quality |
| triceps brachii | UBERON:0001509 | 97.49 | gold quality |
| omental fat pad | UBERON:0010414 | 97.34 | gold quality |
| peritoneum | UBERON:0002358 | 97.31 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 97.31 | gold quality |
| gluteal muscle | UBERON:0002000 | 97.09 | gold quality |
| saphenous vein | UBERON:0007318 | 97.05 | gold quality |
| right coronary artery | UBERON:0001625 | 97.03 | gold quality |
| left coronary artery | UBERON:0001626 | 97.00 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 96.95 | gold quality |
| upper lobe of lung | UBERON:0008948 | 96.89 | gold quality |
| gall bladder | UBERON:0002110 | 96.82 | gold quality |
| coronary artery | UBERON:0001621 | 96.73 | gold quality |
| left uterine tube | UBERON:0001303 | 96.55 | gold quality |
| muscle organ | UBERON:0001630 | 96.41 | gold quality |
| skeletal muscle organ | UBERON:0014892 | 96.41 | gold quality |
Single-cell (SCXA)
Detected in 7 experiment(s), a significant marker in 6.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ENAD-27 | yes | 313.24 |
| E-MTAB-10287 | yes | 67.51 |
| E-MTAB-6701 | yes | 27.17 |
| E-HCAD-11 | yes | 7.72 |
| E-GEOD-130148 | yes | 4.29 |
| E-ENAD-17 | no | 171.06 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): GATA6
miRNA regulators (miRDB)
35 targeting LMCD1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-4713-3P | 100.00 | 65.92 | 505 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-8087 | 99.90 | 69.55 | 1351 |
| HSA-MIR-765 | 99.84 | 68.24 | 2442 |
| HSA-MIR-1323 | 99.83 | 69.89 | 2471 |
| HSA-MIR-11181-3P | 99.75 | 66.38 | 2205 |
| HSA-MIR-548O-3P | 99.74 | 69.30 | 2228 |
| HSA-MIR-4261 | 99.59 | 70.30 | 3415 |
| HSA-MIR-510-3P | 99.54 | 70.06 | 2965 |
| HSA-MIR-147B-5P | 99.45 | 70.62 | 2432 |
| HSA-MIR-2392 | 99.43 | 67.50 | 708 |
| HSA-MIR-6505-3P | 99.34 | 67.39 | 1071 |
| HSA-MIR-7974 | 99.24 | 65.48 | 1137 |
| HSA-MIR-196A-3P | 99.19 | 67.34 | 1204 |
| HSA-MIR-4711-3P | 98.97 | 66.87 | 1020 |
| HSA-MIR-511-5P | 98.97 | 70.94 | 2268 |
| HSA-MIR-6830-3P | 98.62 | 68.07 | 1760 |
| HSA-MIR-1178-3P | 98.57 | 67.09 | 890 |
| HSA-MIR-599 | 98.32 | 66.99 | 1037 |
| HSA-MIR-6509-3P | 98.32 | 67.33 | 1343 |
| HSA-MIR-1304-3P | 98.29 | 66.44 | 1207 |
| HSA-MIR-2681-3P | 98.18 | 65.28 | 577 |
| HSA-MIR-1285-5P | 98.01 | 68.71 | 779 |
| HSA-MIR-4646-5P | 97.70 | 66.84 | 1692 |
| HSA-MIR-4715-5P | 97.62 | 67.47 | 506 |
| HSA-MIR-450B-3P | 97.56 | 66.12 | 512 |
| HSA-MIR-96-3P | 97.47 | 68.03 | 839 |
| HSA-MIR-4436B-5P | 96.71 | 68.37 | 1346 |
Literature-anchored findings (GeneRIF, showing 9)
- Together, our results suggest that LMCD1 mutations are potential oncogenic events in HCC metastasis to promote cell migration through the Rac1-signaling pathway. (PMID:21996735)
- The rs1800775 [1.31 (1.22-1.42); p = 3.41E-12] in the CETP gene and rs359027 [1.26 (1.16-1.36); p = 2.55E-08] in the LMCD1 gene were significantly associated with LHDLC levels (PMID:26879886)
- LIM and cysteine-rich domains 1 is required for thrombin-induced smooth muscle cell proliferation and promotes atherogenesis (PMID:29326163)
- LMCD1 promotes osteogenic differentiation of human bone marrow stem cells by regulating BMP signaling. (PMID:31501411)
- Skeletal muscle LMCD1 expression is reduced in patients with skeletal muscle disease. We analyzed gene expression data from muscle of patients with diverse muscle pathologies and identified LMCD1 as a gene strongly associated with skeletal muscle function. (PMID:31666122)
- LMCD1 acts as an activator of E2F1 in humans in the induction of CDC6 and IL-33 expression during development of vascular lesions. (PMID:32160773)
- LMCD1 facilitates the induction of pluripotency via cell proliferation, metabolism, and epithelial-mesenchymal transition. (PMID:35842772)
- Critical Role of LMCD1 in Promoting Profibrotic Characteristics of Lung Myofibroblasts in Experimental and Scleroderma-Associated Lung Fibrosis. (PMID:36103378)
- LIM and Cysteine-Rich Domains 1 Promotes Transforming Growth Factor beta1-Induced Epithelial-Mesenchymal Transition in Human Kidney 2 Cells. (PMID:37039151)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | lmcd1 | ENSDARG00000002002 |
| mus_musculus | Lmcd1 | ENSMUSG00000057604 |
| rattus_norvegicus | Lmcd1 | ENSRNOG00000005690 |
| drosophila_melanogaster | Tes | FBGN0034223 |
| caenorhabditis_elegans | WBGENE00004112 | |
| caenorhabditis_elegans | WBGENE00015217 |
Paralogs (3): TES (ENSG00000135269), LIMD2 (ENSG00000136490), PRICKLE1 (ENSG00000139174)
Protein
Protein identifiers
LIM and cysteine-rich domains protein 1 — Q9NZU5 (reviewed: Q9NZU5)
Alternative names: Dyxin
All UniProt accessions (5): Q9NZU5, B4DEY6, C9IYS1, F8WB09, H7C3D2
UniProt curated annotations — full annotation on UniProt →
Function. Transcriptional cofactor that restricts GATA6 function by inhibiting DNA-binding, resulting in repression of GATA6 transcriptional activation of downstream target genes. Represses GATA6-mediated trans activation of lung- and cardiac tissue-specific promoters. Inhibits DNA-binding by GATA4 and GATA1 to the cTNC promoter. Plays a critical role in the development of cardiac hypertrophy via activation of calcineurin/nuclear factor of activated T-cells signaling pathway.
Subunit / interactions. Interacts with GATA1 and GATA4. Interacts with beta-dystroglycan. Interacts with GATA6.
Subcellular location. Cytoplasm. Nucleus.
Tissue specificity. Expressed in the heart (at protein level). Expressed in many tissues with highest abundance in skeletal muscle.
Domain organisation. The LIM zinc-binding domains and the Cys-rich region mediate interaction with GATA6.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9NZU5-1 | 1 | yes |
| Q9NZU5-2 | 2 |
RefSeq proteins (4): NP_001265162, NP_001265163, NP_001265164, NP_055398* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001781 | Znf_LIM | Domain |
| IPR010442 | PET_domain | Domain |
| IPR033724 | PET_testin | Domain |
| IPR047120 | Pk/Esn/Tes | Family |
Pfam: PF00412, PF06297
UniProt features (8 total): domain 3, chain 1, region of interest 1, compositionally biased region 1, modified residue 1, splice variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NZU5-F1 | 85.63 | 0.66 |
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 (1): 16
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-5683826 | Surfactant metabolism |
| R-HSA-392499 | Metabolism of proteins |
MSigDB gene sets: 179 (showing top):
GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_UP, ATF_B, GOBP_REGULATION_OF_CALCIUM_MEDIATED_SIGNALING, BERTUCCI_MEDULLARY_VS_DUCTAL_BREAST_CANCER_DN, GOZGIT_ESR1_TARGETS_DN, GAUSSMANN_MLL_AF4_FUSION_TARGETS_E_UP, CREB_Q4, GOBP_POSITIVE_REGULATION_OF_CALCIUM_MEDIATED_SIGNALING, SRF_C, ATF1_Q6, GOBP_MUSCLE_ADAPTATION, ENGELMANN_CANCER_PROGENITORS_UP, SCHAEFFER_PROSTATE_DEVELOPMENT_12HR_UP, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_UP, AAAGACA_MIR511
GO Biological Process (3): negative regulation of transcription by RNA polymerase II (GO:0000122), regulation of cardiac muscle hypertrophy (GO:0010611), positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)
GO Molecular Function (4): transcription corepressor activity (GO:0003714), zinc ion binding (GO:0008270), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (3): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Metabolism of proteins | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| negative regulation of DNA-templated transcription | 2 |
| cellular anatomical structure | 2 |
| regulation of transcription by RNA polymerase II | 1 |
| transcription by RNA polymerase II | 1 |
| cardiac muscle hypertrophy | 1 |
| regulation of muscle hypertrophy | 1 |
| regulation of muscle adaptation | 1 |
| calcineurin-NFAT signaling cascade | 1 |
| regulation of calcineurin-NFAT signaling cascade | 1 |
| positive regulation of calcineurin-mediated signaling | 1 |
| transcription coregulator activity | 1 |
| transition metal ion binding | 1 |
| binding | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
986 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| LMCD1 | DLX2 | Q07687 | 687 |
| LMCD1 | GATA6 | P78327 | 623 |
| LMCD1 | EIF1B | O60739 | 571 |
| LMCD1 | VSTM2B | A6NLU5 | 447 |
| LMCD1 | TNS1 | Q9HBL0 | 446 |
| LMCD1 | MRPS21 | P82921 | 434 |
| LMCD1 | RAB31 | Q13636 | 413 |
| LMCD1 | DCHS1 | Q96JQ0 | 407 |
| LMCD1 | TAF6L | Q9Y6J9 | 405 |
| LMCD1 | WNT3A | P56704 | 401 |
| LMCD1 | SSUH2 | Q9Y2M2 | 379 |
| LMCD1 | ROBO1 | Q9Y6N7 | 375 |
| LMCD1 | ECM1 | Q16610 | 372 |
| LMCD1 | HTR2B | P41595 | 371 |
| LMCD1 | LTA4H | P09960 | 359 |
IntAct
40 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CNOT3 | CNOT1 | psi-mi:“MI:0914”(association) | 0.740 |
| RABIF | LMCD1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TEKT4 | LMCD1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GPS1 | PXDNL | psi-mi:“MI:0914”(association) | 0.530 |
| MCRIP2 | CASC3 | psi-mi:“MI:0914”(association) | 0.530 |
| TPD52L1 | TPD52L2 | psi-mi:“MI:0914”(association) | 0.530 |
| LMCD1 | DUX4 | psi-mi:“MI:0915”(physical association) | 0.400 |
| LMCD1 | TCERG1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| LMCD1 | tyeA | psi-mi:“MI:0915”(physical association) | 0.370 |
| TRIM63 | LMCD1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| LMCD1 | SMURF2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| SHTN1 | psi-mi:“MI:0914”(association) | 0.350 | |
| AZU1 | UBA6 | psi-mi:“MI:0914”(association) | 0.350 |
| BCAS2 | ISY1-RAB43 | psi-mi:“MI:0914”(association) | 0.350 |
| DCTN3 | PSMG1 | psi-mi:“MI:0914”(association) | 0.350 |
| DDX28 | UBA6 | psi-mi:“MI:0914”(association) | 0.350 |
| DND1 | UBA6 | psi-mi:“MI:0914”(association) | 0.350 |
| GAB2 | UBA6 | psi-mi:“MI:0914”(association) | 0.350 |
| IL2RG | BBOX1 | psi-mi:“MI:0914”(association) | 0.350 |
| KIAA1191 | UBA6 | psi-mi:“MI:0914”(association) | 0.350 |
| LGALS9 | CYB5A | psi-mi:“MI:0914”(association) | 0.350 |
| LPXN | MED14 | psi-mi:“MI:0914”(association) | 0.350 |
| MARS2 | DDX39A | psi-mi:“MI:0914”(association) | 0.350 |
| MRPL49 | UBA6 | psi-mi:“MI:0914”(association) | 0.350 |
| MRPS23 | MYH7B | psi-mi:“MI:0914”(association) | 0.350 |
| NMNAT2 | TOMM40 | psi-mi:“MI:0914”(association) | 0.350 |
| NPPB | ACOT7 | psi-mi:“MI:0914”(association) | 0.350 |
| OSBPL11 | DNM1L | psi-mi:“MI:0914”(association) | 0.350 |
| PEX7 | UBA6 | psi-mi:“MI:0914”(association) | 0.350 |
| PPP4R2 | KRIT1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (29): LMCD1 (Two-hybrid), LMCD1 (Two-hybrid), LMCD1 (Proximity Label-MS), TEKT4 (Two-hybrid), RABIF (Two-hybrid), LMCD1 (Affinity Capture-MS), LMCD1 (Affinity Capture-MS), LMCD1 (Proximity Label-MS), LMCD1 (Affinity Capture-Western), LMCD1 (Affinity Capture-MS), NIPSNAP3A (Co-fractionation), GGA2 (Co-fractionation), PCTP (Co-fractionation), LMCD1 (Affinity Capture-MS), LMCD1 (Positive Genetic)
ESM2 similar proteins: A0JMY5, A2YEZ6, A3BDI8, A6QLA0, A9YUB1, B1AY10, D4A4T9, E0X9N4, O74853, P40798, P47226, P53971, Q09YN8, Q0D5B9, Q108U9, Q12986, Q15326, Q17QE2, Q18034, Q29RL2, Q2IBC3, Q2LAP6, Q2QLA1, Q2QLG8, Q4R7U2, Q54BK0, Q5PXT2, Q5R966, Q5RD91, Q5U2P3, Q5ZA07, Q5ZML4, Q67YE6, Q6DIR5, Q6IDS6, Q6NUA0, Q6ZNB6, Q7ZXE9, Q8N6M9, Q8R5C8
Diamond homologs: A0A1L8F1M4, A0M8R4, A0M8S5, A0M8U6, A1Z6W3, A8WH69, O43294, O43900, P47226, Q00PK1, Q04650, Q07DW1, Q07DX3, Q07DY3, Q07DZ4, Q07E27, Q07E40, Q07E51, Q09YI0, Q09YJ2, Q09YK3, Q09YL5, Q09YN8, Q108U9, Q174I2, Q17QE2, Q28FG2, Q292U2, Q292U5, Q2IBA3, Q2IBC3, Q2IBH0, Q2LAP6, Q2QL92, Q2QLA1, Q2QLB2, Q2QLC3, Q2QLE3, Q2QLF4, Q2QLG8
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
87 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 66 |
| Likely benign | 6 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1526995 | GRCh37/hg19 3p26.1-25.3(chr3:6842555-10153209) | Pathogenic |
SpliceAI
1069 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:8501978:AAGG:A | donor_loss | 1.0000 |
| 3:8501979:AGGTG:A | donor_loss | 1.0000 |
| 3:8501980:GGT:G | donor_loss | 1.0000 |
| 3:8501981:GTGA:G | donor_loss | 1.0000 |
| 3:8548563:CCTA:C | acceptor_loss | 1.0000 |
| 3:8548564:CTAG:C | acceptor_loss | 1.0000 |
| 3:8548565:TAG:T | acceptor_loss | 1.0000 |
| 3:8548566:A:AG | acceptor_gain | 1.0000 |
| 3:8548566:A:G | acceptor_loss | 1.0000 |
| 3:8548566:AG:A | acceptor_gain | 1.0000 |
| 3:8548567:G:GG | acceptor_gain | 1.0000 |
| 3:8548567:GG:G | acceptor_gain | 1.0000 |
| 3:8548898:GAA:G | donor_gain | 1.0000 |
| 3:8548900:ATAC:A | donor_gain | 1.0000 |
| 3:8548900:ATACG:A | donor_loss | 1.0000 |
| 3:8548901:TAC:T | donor_gain | 1.0000 |
| 3:8548901:TACG:T | donor_loss | 1.0000 |
| 3:8548902:ACGT:A | donor_loss | 1.0000 |
| 3:8548903:CGTA:C | donor_loss | 1.0000 |
| 3:8548904:G:C | donor_loss | 1.0000 |
| 3:8548904:G:GG | donor_gain | 1.0000 |
| 3:8548905:T:TG | donor_loss | 1.0000 |
| 3:8548906:A:AT | donor_loss | 1.0000 |
| 3:8501978:AAG:A | donor_gain | 0.9900 |
| 3:8501981:G:GG | donor_gain | 0.9900 |
| 3:8501982:T:A | donor_loss | 0.9900 |
| 3:8537440:GGTAA:G | donor_loss | 0.9900 |
| 3:8537441:G:C | donor_loss | 0.9900 |
| 3:8537442:T:TC | donor_loss | 0.9900 |
| 3:8548566:AGG:A | acceptor_gain | 0.9900 |
AlphaMissense
2383 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:8537390:T:C | F113L | 1.000 |
| 3:8537392:T:A | F113L | 1.000 |
| 3:8537392:T:G | F113L | 1.000 |
| 3:8537411:T:A | W120R | 1.000 |
| 3:8537411:T:C | W120R | 1.000 |
| 3:8537413:G:C | W120C | 1.000 |
| 3:8537413:G:T | W120C | 1.000 |
| 3:8537192:T:C | C47R | 0.999 |
| 3:8537262:G:A | G70D | 0.999 |
| 3:8537336:A:G | K95E | 0.999 |
| 3:8537338:G:C | K95N | 0.999 |
| 3:8537338:G:T | K95N | 0.999 |
| 3:8537340:G:T | R96M | 0.999 |
| 3:8537341:G:C | R96S | 0.999 |
| 3:8537341:G:T | R96S | 0.999 |
| 3:8537391:T:C | F113S | 0.999 |
| 3:8537405:T:G | Y118D | 0.999 |
| 3:8548577:T:G | Y133D | 0.999 |
| 3:8548662:T:C | L161P | 0.999 |
| 3:8548770:G:A | G197E | 0.999 |
| 3:8565478:T:A | V257D | 0.999 |
| 3:8565531:T:C | C275R | 0.999 |
| 3:8565562:T:C | L285P | 0.999 |
| 3:8565594:T:C | C296R | 0.999 |
| 3:8565630:T:C | C308R | 0.999 |
| 3:8565632:C:G | C308W | 0.999 |
| 3:8537193:G:A | C47Y | 0.998 |
| 3:8537194:C:G | C47W | 0.998 |
| 3:8537202:G:A | C50Y | 0.998 |
| 3:8537249:G:C | D66H | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000013945 (3:8558496 G>A), RS1000024491 (3:8517515 G>A,T), RS1000044408 (3:8530412 G>C), RS1000046859 (3:8558745 C>T), RS1000061280 (3:8537180 C>A,T), RS1000096185 (3:8521012 C>A), RS1000132759 (3:8523878 T>G), RS1000250846 (3:8511976 G>T), RS1000305109 (3:8552735 G>A), RS1000317627 (3:8558687 G>A), RS1000320582 (3:8530809 G>A), RS1000344940 (3:8504916 G>T), RS1000419409 (3:8524636 A>G), RS1000523605 (3:8554241 A>T), RS1000535834 (3:8560524 T>C)
Disease associations
OMIM: gene MIM:604859 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
10 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003094_1 | Mitral valve prolapse | 1.000000e-11 |
| GCST003391_3 | Low high density lipoprotein cholesterol levels | 2.000000e-10 |
| GCST004794_3 | Brain volume in infants (intracranial brain volume) | 9.000000e-07 |
| GCST004862_41 | Itch intensity from mosquito bite adjusted by bite size | 8.000000e-06 |
| GCST006616_3 | Uterine fibroid number (single vs multiple) | 9.000000e-07 |
| GCST007677_1 | Rumination (response to stress) | 3.000000e-06 |
| GCST009391_1203 | Metabolite levels | 6.000000e-06 |
| GCST010397_14 | Gut microbiota (bacterial taxa, rank normal transformation method) | 1.000000e-06 |
| GCST90002400_350 | Plateletcrit | 2.000000e-12 |
| GCST90002402_297 | Platelet count | 7.000000e-10 |
EFO canonical traits (10, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004612 | high density lipoprotein cholesterol measurement |
| EFO:0008369 | infant intracranial volume measurement |
| EFO:0008377 | mosquito bite reaction itch intensity measurement |
| EFO:0008378 | mosquito bite reaction size measurement |
| EFO:0009410 | uterine fibroid measurement |
| EFO:0009857 | ruminative stress response |
| EFO:0010418 | triacylglycerol 52:6 measurement |
| EFO:0007874 | gut microbiome measurement |
| EFO:0007985 | platelet crit |
| EFO:0004309 | platelet count |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
67 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Estradiol | affects expression, affects cotreatment, increases expression, decreases expression | 5 |
| Tetrachlorodibenzodioxin | affects cotreatment, increases expression | 5 |
| bisphenol A | decreases expression, increases expression | 4 |
| sodium arsenite | affects methylation, decreases expression, increases expression, increases stability | 4 |
| Cyclosporine | decreases expression, increases expression | 4 |
| Progesterone | affects cotreatment, increases expression | 3 |
| Valproic Acid | decreases methylation, increases expression | 3 |
| Resveratrol | affects cotreatment, decreases expression | 2 |
| Cadmium | increases expression | 2 |
| Silver | increases expression | 2 |
| Aflatoxin B1 | increases expression, increases methylation | 2 |
| Cadmium Chloride | increases expression | 2 |
| bisphenol F | increases expression | 1 |
| 2,4,6-tribromophenol | decreases expression | 1 |
| chloroacetaldehyde | decreases expression | 1 |
| cinnamaldehyde | decreases expression | 1 |
| tobacco tar | decreases expression | 1 |
| potassium chromate(VI) | decreases expression | 1 |
| triadimefon | decreases expression | 1 |
| ciglitazone | affects binding, increases expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| monomethylarsonous acid | increases expression | 1 |
| nutlin 3 | affects cotreatment, increases secretion | 1 |
| bisphenol B | increases expression | 1 |
| abrine | increases expression | 1 |
| MRK 003 | decreases expression | 1 |
| bisphenol S | increases expression | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Dasatinib | 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.