MARCHF3
gene geneOn this page
Also known as MGC48332MARCH-IIIRNF173
Summary
MARCHF3 (membrane associated ring-CH-type finger 3, HGNC:28728) is a protein-coding gene on chromosome 5q23.2, encoding E3 ubiquitin-protein ligase MARCHF3 (Q86UD3). E3 ubiquitin-protein ligase which may be involved in endosomal trafficking.
This gene encodes a member of the membrane-associated RING-CH (MARCH) family. The encoded protein is an E3 ubiquitin-protein ligase that may be involved in regulation of the endosomal transport pathway.
Source: NCBI Gene 115123 — RefSeq curated summary.
At a glance
- GWAS associations: 7
- Clinical variants (ClinVar): 37 total
- MANE Select transcript:
NM_178450
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:28728 |
| Approved symbol | MARCHF3 |
| Name | membrane associated ring-CH-type finger 3 |
| Location | 5q23.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC48332, MARCH-III, RNF173 |
| Ensembl gene | ENSG00000173926 |
| Ensembl biotype | protein_coding |
| OMIM | 613333 |
| Entrez | 115123 |
Gene structure
Transcript identifiers
Ensembl transcripts: 12 — 9 protein_coding, 2 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000308660, ENST00000502289, ENST00000504239, ENST00000506088, ENST00000515241, ENST00000892692, ENST00000892693, ENST00000892694, ENST00000928509, ENST00000928510, ENST00000928511, ENST00000968913
RefSeq mRNA: 1 — MANE Select: NM_178450
NM_178450
CCDS: CCDS4141
Canonical transcript exons
ENST00000308660 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001178483 | 126878185 | 126878394 |
| ENSE00001178489 | 126914930 | 126915134 |
| ENSE00001242174 | 127030350 | 127030558 |
| ENSE00001242185 | 126867714 | 126870791 |
| ENSE00003676575 | 126917984 | 126918227 |
Expression profiles
Bgee: expression breadth ubiquitous, 227 present calls, max score 91.95.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 16.5785 / max 337.6123, expressed in 1687 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 63209 | 15.3246 | 1632 |
| 63210 | 0.9670 | 567 |
| 63211 | 0.1993 | 56 |
| 63208 | 0.0489 | 10 |
| 63206 | 0.0339 | 14 |
| 63212 | 0.0049 | 2 |
Top tissues by expression
280 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| pancreatic ductal cell | CL:0002079 | 91.95 | silver quality |
| sperm | CL:0000019 | 91.10 | gold quality |
| left testis | UBERON:0004533 | 90.05 | gold quality |
| right testis | UBERON:0004534 | 89.71 | gold quality |
| skin of leg | UBERON:0001511 | 89.13 | gold quality |
| heart left ventricle | UBERON:0002084 | 88.61 | gold quality |
| testis | UBERON:0000473 | 88.56 | gold quality |
| cardiac ventricle | UBERON:0002082 | 88.32 | gold quality |
| skin of abdomen | UBERON:0001416 | 88.31 | gold quality |
| male germ cell | CL:0000015 | 88.00 | gold quality |
| apex of heart | UBERON:0002098 | 87.58 | gold quality |
| adrenal tissue | UBERON:0018303 | 87.22 | gold quality |
| right atrium auricular region | UBERON:0006631 | 87.21 | gold quality |
| zone of skin | UBERON:0000014 | 87.08 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 85.95 | gold quality |
| omental fat pad | UBERON:0010414 | 85.95 | gold quality |
| peritoneum | UBERON:0002358 | 85.90 | gold quality |
| heart | UBERON:0000948 | 85.85 | gold quality |
| rectum | UBERON:0001052 | 85.83 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 85.34 | gold quality |
| gall bladder | UBERON:0002110 | 85.29 | gold quality |
| heart right ventricle | UBERON:0002080 | 85.14 | gold quality |
| cardiac atrium | UBERON:0002081 | 85.10 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 84.83 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 84.82 | gold quality |
| cortical plate | UBERON:0005343 | 84.79 | gold quality |
| colonic mucosa | UBERON:0000317 | 84.34 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 84.05 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 83.46 | gold quality |
| medial globus pallidus | UBERON:0002477 | 83.26 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-10042 | yes | 24.58 |
| E-GEOD-135922 | yes | 9.48 |
| E-HCAD-25 | yes | 4.77 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
127 targeting MARCHF3, 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-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-3667-3P | 99.99 | 67.17 | 1636 |
| HSA-MIR-223-3P | 99.99 | 70.14 | 1140 |
| HSA-MIR-4534 | 99.99 | 66.58 | 1907 |
| HSA-MIR-6077 | 99.99 | 68.04 | 2299 |
| HSA-MIR-103A-3P | 99.98 | 69.14 | 1595 |
| HSA-MIR-107 | 99.98 | 69.14 | 1595 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-1229-3P | 99.97 | 66.49 | 906 |
| HSA-MIR-8075 | 99.97 | 67.20 | 962 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-96-5P | 99.95 | 72.80 | 2140 |
| HSA-MIR-144-3P | 99.94 | 73.98 | 2698 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-548AE-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-548AQ-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-548AH-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AM-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-6508-5P | 99.92 | 70.67 | 2465 |
| HSA-MIR-12133 | 99.92 | 71.82 | 2006 |
| HSA-MIR-5680 | 99.91 | 69.83 | 3421 |
| HSA-MIR-1271-5P | 99.91 | 71.99 | 1972 |
Literature-anchored findings (GeneRIF, showing 3)
- LPS activation of TLR4 significantly increased MARCH3 expression and that siRNA against MARCH3 prevented the decrease in FcgammaRIIb following LPS treatment. (PMID:26694610)
- Report shows that silencing MARCH3 protects the endothelial barrier and upregulates OCLN in MARCH3-depleted cells. MARCH3 silencing results in the strengthening of cell-cell contacts and inactivates FoxO1. (PMID:27616439)
- RNF173 suppresses RAF/MEK/ERK signaling to regulate invasion and metastasis via GRB2 ubiquitination in Hepatocellular Carcinoma. (PMID:37626338)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | zgc:158785 | ENSDARG00000062959 |
| mus_musculus | Marchf3 | ENSMUSG00000032656 |
| rattus_norvegicus | Marchf3 | ENSRNOG00000023013 |
| caenorhabditis_elegans | marc-3 | WBGENE00007643 |
Paralogs (6): MARCHF2 (ENSG00000099785), MARCHF9 (ENSG00000139266), MARCHF4 (ENSG00000144583), MARCHF1 (ENSG00000145416), MARCHF8 (ENSG00000165406), MARCHF11 (ENSG00000183654)
Protein
Protein identifiers
E3 ubiquitin-protein ligase MARCHF3 — Q86UD3 (reviewed: Q86UD3)
Alternative names: Membrane-associated RING finger protein 3, Membrane-associated RING-CH protein III, RING finger protein 173, RING-type E3 ubiquitin transferase MARCHF3
All UniProt accessions (1): Q86UD3
UniProt curated annotations — full annotation on UniProt →
Function. E3 ubiquitin-protein ligase which may be involved in endosomal trafficking. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfer the ubiquitin to targeted substrates.
Subunit / interactions. Interacts with MARCHF2 and STX6.
Subcellular location. Cytoplasmic vesicle membrane. Early endosome membrane.
Domain organisation. The RING-CH-type zinc finger domain is required for E3 ligase activity.
Pathway. Protein modification; protein ubiquitination.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q86UD3-1 | 1 | yes |
| Q86UD3-2 | 2 |
RefSeq proteins (1): NP_848545* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001841 | Znf_RING | Domain |
| IPR011016 | Znf_RING-CH | Domain |
| IPR013083 | Znf_RING/FYVE/PHD | Homologous_superfamily |
Pfam: PF12906
UniProt features (17 total): binding site 8, transmembrane region 2, modified residue 2, splice variant 2, chain 1, sequence variant 1, zinc finger region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q86UD3-F1 | 71.56 | 0.34 |
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 (8): 113; 116; 71; 74; 87; 89; 97; 100
Post-translational modifications (2): 237, 243
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 186 (showing top):
GSE45365_NK_CELL_VS_BCELL_DN, TAATAAT_MIR126, PEREZ_TP63_TARGETS, GOBP_VESICLE_MEDIATED_TRANSPORT, TAL1ALPHAE47_01, DOANE_BREAST_CANCER_CLASSES_DN, TGTGTGA_MIR377, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, ONDER_CDH1_TARGETS_2_UP, BOYAULT_LIVER_CANCER_SUBCLASS_G1_UP, AACTTT_UNKNOWN, PEREZ_TP53_AND_TP63_TARGETS, LIU_CMYB_TARGETS_UP, GOBP_IMPORT_INTO_CELL, LIU_VMYB_TARGETS_UP
GO Biological Process (2): endocytosis (GO:0006897), protein ubiquitination (GO:0016567)
GO Molecular Function (6): ubiquitin-protein transferase activity (GO:0004842), zinc ion binding (GO:0008270), ubiquitin protein ligase activity (GO:0061630), protein binding (GO:0005515), transferase activity (GO:0016740), metal ion binding (GO:0046872)
GO Cellular Component (6): lysosome (GO:0005764), endosome (GO:0005768), early endosome membrane (GO:0031901), membrane (GO:0016020), cytoplasmic vesicle membrane (GO:0030659), cytoplasmic vesicle (GO:0031410)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cytoplasmic vesicle | 2 |
| vesicle budding from membrane | 1 |
| membrane invagination | 1 |
| vesicle-mediated transport | 1 |
| import into cell | 1 |
| protein modification by small protein conjugation | 1 |
| ubiquitin-like protein transferase activity | 1 |
| transition metal ion binding | 1 |
| ubiquitin-protein transferase activity | 1 |
| ubiquitin-like protein ligase activity | 1 |
| binding | 1 |
| catalytic activity | 1 |
| cation binding | 1 |
| lytic vacuole | 1 |
| endomembrane system | 1 |
| early endosome | 1 |
| endosome membrane | 1 |
| cellular anatomical structure | 1 |
| vesicle membrane | 1 |
| cytoplasm | 1 |
| intracellular vesicle | 1 |
Protein interactions and networks
STRING
644 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MARCHF3 | STX6 | O43752 | 907 |
| MARCHF3 | TGOLN2 | O43493 | 777 |
| MARCHF3 | MARCHF10 | Q8NA82 | 627 |
| MARCHF3 | SPMIP10 | Q6ZNM6 | 573 |
| MARCHF3 | C5orf63 | A6NC05 | 570 |
| MARCHF3 | TFRC | P02786 | 563 |
| MARCHF3 | MARCHF7 | Q9H992 | 489 |
| MARCHF3 | MINAR2 | P59773 | 432 |
| MARCHF3 | HSPB3 | Q12988 | 428 |
| MARCHF3 | GRAMD2B | Q96HH9 | 404 |
| MARCHF3 | MARCHF5 | Q9NX47 | 398 |
| MARCHF3 | TMEM215 | Q68D42 | 388 |
| MARCHF3 | VAMP3 | Q15836 | 367 |
| MARCHF3 | LRP2BP | Q9P2M1 | 357 |
| MARCHF3 | ISOC1 | Q96CN7 | 350 |
IntAct
136 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| DLG1 | MARCHF3 | psi-mi:“MI:0915”(physical association) | 0.610 |
| MARCHF3 | DLG1 | psi-mi:“MI:0407”(direct interaction) | 0.610 |
| MARCHF3 | APOL2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MARCHF3 | FATE1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| UBE2K | MARCHF3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MARCHF3 | DLG2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| MARCHF3 | DLG4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| MARCHF3 | MAGI3 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| MARCHF3 | DLG3 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| MARCHF3 | SNTA1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| MARCHF3 | SNX27 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| MARCHF3 | MAGI2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| MARCHF3 | LNX2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| MARCHF3 | SNTB1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| MARCHF3 | PDZD7 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| MARCHF3 | PTPN3 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| MARCHF3 | SYNJ2BP | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| MARCHF3 | MAST2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| MARCHF3 | MAGI1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| MARCHF3 | GORASP2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| MARCHF3 | SCRIB | psi-mi:“MI:0407”(direct interaction) | 0.440 |
BioGRID (55): MARCH3 (Two-hybrid), MARCH3 (Two-hybrid), BAG2 (Affinity Capture-MS), ILF3 (Affinity Capture-MS), TFRC (Affinity Capture-MS), TMEM201 (Affinity Capture-MS), RNFT1 (Affinity Capture-MS), NDUFS2 (Affinity Capture-MS), TNFRSF10B (Affinity Capture-MS), ITCH (Affinity Capture-MS), NOTCH2 (Affinity Capture-MS), NCSTN (Affinity Capture-MS), SLC3A2 (Affinity Capture-MS), ENDOD1 (Affinity Capture-MS), ATF6B (Affinity Capture-MS)
ESM2 similar proteins: A0A571BF63, A0JMQ9, A0JN69, A1L1R5, E7EZI4, O41933, P0C7U3, P33279, P40145, P97490, Q0IH10, Q0VD59, Q11122, Q1L8G6, Q1LVZ2, Q28EX7, Q28GL3, Q28IK8, Q32L65, Q3UF64, Q4R8E0, Q5I0I2, Q5M7Z0, Q5PQ35, Q5RAG4, Q5T0T0, Q5XH39, Q5XIE5, Q68FA7, Q6NRX0, Q6NTV1, Q6NZ21, Q6NZQ8, Q6ZPS6, Q6ZUJ8, Q803Q4, Q86UD3, Q8BGN6, Q8BPQ7, Q8BRX9
Diamond homologs: A0JN69, A6NNE9, A6P320, F4JKK0, O60103, O60337, P40318, P90489, P90495, Q0IH10, Q0P496, Q0VD59, Q1LVZ2, Q28EX7, Q32L65, Q3TZ87, Q5I0I2, Q5PQ35, Q5R9W1, Q5T0T0, Q5XIE5, Q5XIV2, Q68FA7, Q6NZQ8, Q6ZQ89, Q80TE3, Q86UD3, Q86YJ5, Q8BRX9, Q8CBH7, Q8TCQ1, Q99M02, Q9DBD2, Q9P0N8, Q9P2E8, Q0X0A5, Q28IK8, Q3KNM2, Q3ZC24, Q5R9W2
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| Ub:E2 | “up-regulates activity” | MARCHF3 | ubiquitination |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 87 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Assembly and cell surface presentation of NMDA receptors | 8 | 36.2× | 4e-09 |
| Neurexins and neuroligins | 10 | 35.2× | 3e-11 |
| Protein-protein interactions at synapses | 6 | 28.5× | 4e-06 |
| Antigen processing: Ubiquitination & Proteasome degradation | 9 | 6.0× | 3e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| establishment or maintenance of epithelial cell apical/basal polarity | 9 | 63.0× | 5e-12 |
| protein localization to synapse | 6 | 55.4× | 2e-07 |
| receptor clustering | 6 | 45.1× | 4e-07 |
| regulation of postsynaptic membrane neurotransmitter receptor levels | 6 | 35.8× | 2e-06 |
| protein-containing complex assembly | 9 | 12.3× | 3e-06 |
| protein K48-linked ubiquitination | 6 | 12.2× | 5e-04 |
| cell-cell adhesion | 8 | 9.8× | 1e-04 |
| chemical synaptic transmission | 7 | 6.5× | 3e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
37 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 31 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1651 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 5:126917983:CCT:C | donor_gain | 1.0000 |
| 5:126918006:C:CT | donor_gain | 1.0000 |
| 5:126918006:CTA:C | donor_gain | 1.0000 |
| 5:126918007:T:TT | donor_gain | 1.0000 |
| 5:126918054:A:AC | donor_gain | 1.0000 |
| 5:126918055:C:CC | donor_gain | 1.0000 |
| 5:126878183:A:AC | donor_gain | 0.9900 |
| 5:126878184:C:CC | donor_gain | 0.9900 |
| 5:126878390:AGCCA:A | acceptor_gain | 0.9900 |
| 5:126878399:CAGG:C | acceptor_gain | 0.9900 |
| 5:126913301:T:TA | donor_gain | 0.9900 |
| 5:126914924:A:AC | donor_gain | 0.9900 |
| 5:126914925:C:CC | donor_gain | 0.9900 |
| 5:126917978:TACTA:T | donor_loss | 0.9900 |
| 5:126917979:ACTAC:A | donor_loss | 0.9900 |
| 5:126917981:TAC:T | donor_loss | 0.9900 |
| 5:126917982:ACCTC:A | donor_loss | 0.9900 |
| 5:126917983:C:CA | donor_loss | 0.9900 |
| 5:126918008:A:AC | donor_gain | 0.9900 |
| 5:126918009:C:CC | donor_gain | 0.9900 |
| 5:126918029:T:TA | donor_gain | 0.9900 |
| 5:126918045:G:A | donor_gain | 0.9900 |
| 5:126918224:CCAT:C | acceptor_gain | 0.9900 |
| 5:126918225:CAT:C | acceptor_gain | 0.9900 |
| 5:126918225:CATC:C | acceptor_gain | 0.9900 |
| 5:126918228:C:CC | acceptor_gain | 0.9900 |
| 5:126870791:CCT:C | acceptor_loss | 0.9800 |
| 5:126870792:CTG:C | acceptor_loss | 0.9800 |
| 5:126878184:CTA:C | donor_gain | 0.9800 |
| 5:126878391:GCCA:G | acceptor_gain | 0.9800 |
AlphaMissense
1632 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 5:126870753:C:A | W214C | 1.000 |
| 5:126870753:C:G | W214C | 1.000 |
| 5:126870755:A:G | W214R | 1.000 |
| 5:126870755:A:T | W214R | 1.000 |
| 5:126878193:A:G | W199R | 1.000 |
| 5:126878193:A:T | W199R | 1.000 |
| 5:126878225:A:G | L188P | 1.000 |
| 5:126878225:A:T | L188H | 1.000 |
| 5:126878234:A:G | L185P | 1.000 |
| 5:126878292:A:G | C166R | 1.000 |
| 5:126878294:A:G | L165P | 1.000 |
| 5:126878300:C:T | G163D | 1.000 |
| 5:126878312:G:T | A159D | 1.000 |
| 5:126878318:G:C | P157R | 1.000 |
| 5:126878324:A:T | I155K | 1.000 |
| 5:126878345:T:G | D148A | 1.000 |
| 5:126914964:A:G | F120S | 1.000 |
| 5:126914975:G:C | C116W | 1.000 |
| 5:126914976:C:A | C116F | 1.000 |
| 5:126914976:C:G | C116S | 1.000 |
| 5:126914976:C:T | C116Y | 1.000 |
| 5:126914977:A:G | C116R | 1.000 |
| 5:126914977:A:T | C116S | 1.000 |
| 5:126914984:A:C | C113W | 1.000 |
| 5:126914985:C:A | C113F | 1.000 |
| 5:126914985:C:G | C113S | 1.000 |
| 5:126914985:C:T | C113Y | 1.000 |
| 5:126914986:A:G | C113R | 1.000 |
| 5:126914986:A:T | C113S | 1.000 |
| 5:126915009:A:G | L105P | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000016749 (5:126887998 A>C,G), RS1000040125 (5:126894362 G>A,C), RS1000067227 (5:126937359 C>A,T), RS1000070993 (5:126980880 G>T), RS1000109485 (5:127000113 A>G), RS1000122980 (5:126917907 T>G), RS1000128944 (5:126926946 T>A), RS1000172122 (5:126928060 A>G), RS1000209011 (5:126872057 G>A), RS1000215133 (5:126869798 C>T), RS1000246442 (5:127013460 T>C), RS1000296600 (5:126880970 T>C), RS1000302519 (5:126881599 T>G), RS1000327086 (5:126899955 A>G), RS1000337602 (5:126874723 T>A,C,G)
Disease associations
OMIM: gene MIM:613333 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
7 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST008534_1 | Hearing loss in Charcot-Marie-Tooth disease 1A | 2.000000e-07 |
| GCST009240_392 | Serum metabolite levels (CMS) | 4.000000e-10 |
| GCST009242_200 | Serum metabolite levels | 2.000000e-06 |
| GCST009462_62 | Optic disc size | 1.000000e-08 |
| GCST009531_6 | Body fat percentage | 9.000000e-08 |
| GCST010436_4 | Type 2 diabetes | 1.000000e-07 |
| GCST90002387_307 | Immature fraction of reticulocytes | 2.000000e-10 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007800 | body fat percentage |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
40 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| (+)-JQ1 compound | increases expression | 4 |
| Valproic Acid | increases expression | 3 |
| entinostat | increases expression, affects cotreatment | 2 |
| Benzo(a)pyrene | increases methylation, increases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| Silicon Dioxide | increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| GSK-J4 | increases expression | 1 |
| aminomethylphosphonic acid (AMPA) | decreases expression | 1 |
| propionaldehyde | increases expression | 1 |
| bisphenol A | decreases expression | 1 |
| sodium arsenite | affects methylation | 1 |
| cobaltous chloride | decreases expression | 1 |
| butyraldehyde | increases expression | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| hydroquinone | increases expression | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression, decreases expression | 1 |
| abrine | increases expression | 1 |
| Grape Seed Proanthocyanidins | affects cotreatment, increases expression | 1 |
| dorsomorphin | increases expression, decreases expression, affects cotreatment | 1 |
| Dasatinib | decreases expression | 1 |
| Zoledronic Acid | increases expression | 1 |
| Arsenic Trioxide | decreases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Calcitriol | increases expression | 1 |
| Catechin | affects cotreatment, increases expression | 1 |
| Cytarabine | decreases expression | 1 |
| Lipopolysaccharides | 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.