CIDEB
geneOn this page
Summary
CIDEB (cell death inducing DFFA like effector b, HGNC:1977) is a protein-coding gene on chromosome 14q12, encoding Lipid transferase CIDEB (Q9UHD4). Lipid transferase specifically expressed in hepatocytes, which promotes unilocular lipid droplet formation by mediating lipid droplet fusion.
Enables identical protein binding activity. Involved in lipid droplet fusion and positive regulation of apoptotic process. Acts upstream of or within apoptotic process. Located in cytosol and perinuclear region of cytoplasm. Is active in lipid droplet.
Source: NCBI Gene 27141 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 117 total
- MANE Select transcript:
NM_001393339
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:1977 |
| Approved symbol | CIDEB |
| Name | cell death inducing DFFA like effector b |
| Location | 14q12 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000136305 |
| Ensembl biotype | protein_coding |
| OMIM | 604441 |
| Entrez | 27141 |
Gene structure
Transcript identifiers
Ensembl transcripts: 24 — 22 protein_coding, 1 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000258807, ENST00000336557, ENST00000554411, ENST00000555471, ENST00000555817, ENST00000556756, ENST00000885634, ENST00000885635, ENST00000885636, ENST00000885637, ENST00000885638, ENST00000885639, ENST00000885640, ENST00000885641, ENST00000885642, ENST00000885643, ENST00000885644, ENST00000885645, ENST00000885646, ENST00000885647, ENST00000885648, ENST00000885649, ENST00000885650, ENST00000967605
RefSeq mRNA: 9 — MANE Select: NM_001393339
NM_001318807, NM_001393334, NM_001393335, NM_001393336, NM_001393337, NM_001393338, NM_001393339, NM_001393340, NM_014430
CCDS: CCDS32056
Canonical transcript exons
ENST00000554411 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000654428 | 24305947 | 24306137 |
| ENSE00000654429 | 24306374 | 24306523 |
| ENSE00000654430 | 24307371 | 24307515 |
| ENSE00002236572 | 24305187 | 24305765 |
| ENSE00002456528 | 24307818 | 24307977 |
Expression profiles
Bgee: expression breadth ubiquitous, 134 present calls, max score 98.37.
FANTOM5 (CAGE): breadth broad, TPM avg 6.1223 / max 800.5828, expressed in 771 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 142593 | 2.8201 | 570 |
| 142588 | 1.7297 | 83 |
| 142589 | 0.7156 | 69 |
| 142590 | 0.3889 | 195 |
| 142591 | 0.2928 | 163 |
| 142594 | 0.0947 | 41 |
| 142587 | 0.0464 | 14 |
| 142592 | 0.0341 | 12 |
Top tissues by expression
135 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right lobe of liver | UBERON:0001114 | 98.37 | gold quality |
| liver | UBERON:0002107 | 98.33 | gold quality |
| duodenum | UBERON:0002114 | 98.27 | gold quality |
| spleen | UBERON:0002106 | 95.77 | gold quality |
| granulocyte | CL:0000094 | 93.63 | gold quality |
| leukocyte | CL:0000738 | 92.55 | gold quality |
| monocyte | CL:0000576 | 92.54 | gold quality |
| blood | UBERON:0000178 | 92.11 | gold quality |
| adrenal tissue | UBERON:0018303 | 91.82 | gold quality |
| small intestine | UBERON:0002108 | 91.48 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 91.15 | gold quality |
| esophagus mucosa | UBERON:0002469 | 90.27 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 89.83 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 89.29 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 88.90 | gold quality |
| left adrenal gland | UBERON:0001234 | 88.65 | gold quality |
| adrenal gland | UBERON:0002369 | 88.37 | gold quality |
| right adrenal gland | UBERON:0001233 | 88.28 | gold quality |
| left ovary | UBERON:0002119 | 87.97 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 87.60 | gold quality |
| kidney | UBERON:0002113 | 87.55 | gold quality |
| ovary | UBERON:0000992 | 87.36 | gold quality |
| right ovary | UBERON:0002118 | 87.33 | gold quality |
| cortex of kidney | UBERON:0001225 | 86.89 | gold quality |
| bone marrow | UBERON:0002371 | 86.81 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 86.14 | gold quality |
| bone marrow cell | CL:0002092 | 85.87 | gold quality |
| skin of abdomen | UBERON:0001416 | 85.85 | gold quality |
| zone of skin | UBERON:0000014 | 85.65 | gold quality |
| skin of leg | UBERON:0001511 | 85.54 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 3.26 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): CTCF
miRNA regulators (miRDB)
35 targeting CIDEB, 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-2110 | 99.96 | 66.68 | 1930 |
| HSA-MIR-4731-5P | 99.89 | 67.23 | 2537 |
| HSA-MIR-4271 | 99.88 | 68.32 | 2244 |
| HSA-MIR-6756-5P | 99.82 | 67.97 | 2466 |
| HSA-MIR-4307 | 99.82 | 70.45 | 3374 |
| HSA-MIR-6766-5P | 99.68 | 67.70 | 2325 |
| HSA-MIR-5093 | 99.67 | 69.26 | 2291 |
| HSA-MIR-3202 | 99.66 | 67.70 | 2737 |
| HSA-MIR-4310 | 99.59 | 68.84 | 2527 |
| HSA-MIR-4728-3P | 99.47 | 68.94 | 981 |
| HSA-MIR-3612 | 99.45 | 66.02 | 1333 |
| HSA-MIR-650 | 99.45 | 65.77 | 1309 |
| HSA-MIR-4316 | 99.37 | 65.75 | 1360 |
| HSA-MIR-4505 | 99.27 | 67.81 | 2678 |
| HSA-MIR-5787 | 99.22 | 67.86 | 2628 |
| HSA-MIR-491-5P | 99.13 | 65.98 | 1468 |
| HSA-MIR-661 | 99.09 | 65.94 | 2062 |
| HSA-MIR-4695-5P | 99.06 | 64.87 | 1151 |
| HSA-MIR-3145-3P | 98.85 | 69.07 | 2031 |
| HSA-MIR-4700-5P | 98.63 | 67.43 | 1915 |
| HSA-MIR-4450 | 98.26 | 68.35 | 725 |
| HSA-MIR-12126 | 98.09 | 64.82 | 637 |
| HSA-MIR-637 | 97.91 | 64.05 | 1517 |
| HSA-MIR-6728-5P | 97.79 | 66.33 | 891 |
| HSA-MIR-6783-5P | 97.67 | 67.21 | 1528 |
| HSA-MIR-3127-5P | 97.52 | 65.24 | 786 |
| HSA-MIR-6069 | 97.45 | 65.88 | 357 |
| HSA-MIR-194-3P | 97.36 | 65.96 | 1027 |
| HSA-MIR-215-3P | 97.02 | 68.01 | 1209 |
| HSA-MIR-4695-3P | 96.71 | 67.21 | 836 |
Literature-anchored findings (GeneRIF, showing 14)
- A novel mechanism for the cell-specific transcription of the human CIDE-B gene, which involves epigenetic and genetic control at separate respective promoters is reported. (PMID:16248853)
- PGC-1alpha plays an important role in partitioning cytoplasmic TG toward the VLDL secretory compartments and promoting VLDL secretion via transcriptional induction of CideB. (PMID:20551328)
- CIDE proteins expression correlate with tumor and survival characteristics in patients with renal cell carcinoma. (PMID:23475172)
- this work highlights CIDEB’s role in lipid droplet (LD) fusion, and presents a new model system to study the PGC-1alpha/CIDEB pathway’s role in LD dynamics and the VLDL pathway. (PMID:24161736)
- Authors found CIDEB to be an essential cofactor for hepatitis C virus entry into hepatocytes. (PMID:24829338)
- these data revealed that Cideb plays an important role in controlling intestinal chylomicron lipidation. (PMID:24831470)
- CIDEB can act as an anti-HCV host factor and contribute to altered triglyceride homeostasis. (PMID:24980280)
- CIDEB downregulation may contribute to HCV-induced hepatic steatosis (PMID:26865724)
- this study shows that C5a signaling induces apoptosis in brain vascular endothelial cells in experimental lupus through activation of CIDEB (PMID:27213693)
- CIDEB interacts with the HCV NS5A protein, and the N terminus of CIDEB and the domain I of NS5A are involved in this interaction. (PMID:27282740)
- High Cideb expression is associated with Ulcerative Colitis. (PMID:28719542)
- The Differential Expression of Cide Family Members is Associated with Nafld Progression from Steatosis to Steatohepatitis. (PMID:31097771)
- Association of CIDEB gene promoter methylation with overweight or obesity in adults. (PMID:35475772)
- Germline Mutations in CIDEB and Protection against Liver Disease. (PMID:35939579)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | cideb | ENSDARG00000012640 |
| mus_musculus | Cideb | ENSMUSG00000022219 |
| rattus_norvegicus | Cideb | ENSRNOG00000020377 |
| drosophila_melanogaster | Drep2 | FBGN0028408 |
Paralogs (3): DFFA (ENSG00000160049), CIDEA (ENSG00000176194), CIDEC (ENSG00000187288)
Protein
Protein identifiers
Lipid transferase CIDEB — Q9UHD4 (reviewed: Q9UHD4)
Alternative names: Cell death activator CIDE-B, Cell death-inducing DFFA-like effector B
All UniProt accessions (2): Q9UHD4, G3V4E2
UniProt curated annotations — full annotation on UniProt →
Function. Lipid transferase specifically expressed in hepatocytes, which promotes unilocular lipid droplet formation by mediating lipid droplet fusion. Lipid droplet fusion promotes their enlargement, restricting lipolysis and favoring lipid storage. Localizes on the lipid droplet surface, at focal contact sites between lipid droplets, and mediates atypical lipid droplet fusion by promoting directional net neutral lipid transfer from the smaller to larger lipid droplets. The transfer direction may be driven by the internal pressure difference between the contacting lipid droplet pair. Promotes lipid exchange and lipid droplet fusion in both small and large lipid droplet-containing hepatocytes. In addition to its role in lipid droplet fusion, also involved in cytoplasmic vesicle biogenesis and transport. Required for very-low-density lipoprotein (VLDL) lipidation and maturation. Probably involved in the biogenesis of VLDL transport vesicles by forming a COPII vesicle coat and facilitating the formation of endoplasmic reticulum-derived large vesicles. Also involved in sterol-regulated export of the SCAP-SREBP complex, composed of SCAP, SREBF1/SREBP1 and SREBF2/SREBP2, by promoting loading of SCAP-SREBP into COPII vesicles. May also activate apoptosis. (Microbial infection) Involved in Hepatatis C virus (HCV) assembly and required for HCV entry into hepatocytes.
Subunit / interactions. Interacts with DFFA. Interacts with DFFB; inhibited by DFFB. Interacts with APOB. Interacts with PREB/SEC12; facilitating loading of SCAP-SREBP into COPII vesicles. (Microbial infection) Interacts (via N-terminus) with HCV non-structural protein 5A (via N-terminus); this interaction seems to regulate the association of HCV particles with ApoE.
Subcellular location. Lipid droplet. Endoplasmic reticulum membrane. Golgi apparatus. Cytoplasmic vesicle. COPI-coated vesicle.
Tissue specificity. Highly expressed in liver and small intestine and, at lower levels, in colon, kidney and spleen.
Similarity. Belongs to the CIDE family.
RefSeq proteins (9): NP_001305736, NP_001380263, NP_001380264, NP_001380265, NP_001380266, NP_001380267, NP_001380268, NP_001380269, NP_055245 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003508 | CIDE-N_dom | Domain |
Pfam: PF02017
UniProt features (15 total): strand 7, sequence conflict 3, helix 2, chain 1, domain 1, turn 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 1D4B | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9UHD4-F1 | 73.40 | 0.11 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 177 (showing top):
GOBP_REGULATION_OF_TRIGLYCERIDE_METABOLIC_PROCESS, GNF2_GSTM1, GOBP_VESICLE_ORGANIZATION, GCANCTGNY_MYOD_Q6, GNF2_HPN, LUCAS_HNF4A_TARGETS_UP, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_PROTEIN_LIPID_COMPLEX_ASSEMBLY, chr14q12, GOBP_GLYCEROLIPID_METABOLIC_PROCESS, GOBP_REGULATION_OF_LIPID_METABOLIC_PROCESS, GOBP_ENDOPLASMIC_RETICULUM_TO_GOLGI_VESICLE_MEDIATED_TRANSPORT, GOBP_APOPTOTIC_SIGNALING_PATHWAY, GOCC_COATED_VESICLE, GNF2_LCAT
GO Biological Process (11): apoptotic process (GO:0006915), intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630), lipid storage (GO:0019915), response to nutrient levels (GO:0031667), very-low-density lipoprotein particle assembly (GO:0034379), positive regulation of apoptotic process (GO:0043065), COPII-coated vesicle cargo loading (GO:0090110), regulation of triglyceride metabolic process (GO:0090207), execution phase of apoptosis (GO:0097194), lipid droplet fusion (GO:0160077), intermembrane lipid transfer (GO:0120009)
GO Molecular Function (5): identical protein binding (GO:0042802), molecular adaptor activity (GO:0060090), phosphatidic acid binding (GO:0070300), lipid transfer activity (GO:0120013), protein binding (GO:0005515)
GO Cellular Component (11): endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), Golgi apparatus (GO:0005794), lipid droplet (GO:0005811), cytosol (GO:0005829), COPII vesicle coat (GO:0030127), COPI-coated vesicle (GO:0030137), perinuclear region of cytoplasm (GO:0048471), cytoplasm (GO:0005737), membrane (GO:0016020), cytoplasmic vesicle (GO:0031410)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cytoplasm | 5 |
| cellular anatomical structure | 4 |
| apoptotic process | 2 |
| binding | 2 |
| endomembrane system | 2 |
| intracellular membrane-bounded organelle | 2 |
| programmed cell death | 1 |
| apoptotic signaling pathway | 1 |
| execution phase of apoptosis | 1 |
| DNA damage response | 1 |
| intrinsic apoptotic signaling pathway | 1 |
| nutrient storage | 1 |
| response to stimulus | 1 |
| plasma lipoprotein particle assembly | 1 |
| regulation of apoptotic process | 1 |
| positive regulation of programmed cell death | 1 |
| vesicle cargo loading | 1 |
| intracellular transport | 1 |
| COPII-coated vesicle budding | 1 |
| triglyceride metabolic process | 1 |
| regulation of lipid metabolic process | 1 |
| cellular process | 1 |
| bleb assembly | 1 |
| lipid droplet organization | 1 |
| organelle fusion | 1 |
| lipid transport | 1 |
| membrane organization | 1 |
| protein binding | 1 |
| molecular_function | 1 |
| phospholipid binding | 1 |
| anion binding | 1 |
| transporter activity | 1 |
| lipid carrier activity | 1 |
| intermembrane lipid transfer | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| intracellular membraneless organelle | 1 |
| ER to Golgi transport vesicle membrane | 1 |
| vesicle coat | 1 |
Protein interactions and networks
STRING
943 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CIDEB | DFFA | O00273 | 937 |
| CIDEB | DFFB | O76075 | 904 |
| CIDEB | LAMP1 | P11279 | 871 |
| CIDEB | APOB | P04114 | 789 |
| CIDEB | PLIN1 | O60240 | 729 |
| CIDEB | FAS | P25445 | 629 |
| CIDEB | CASP3 | P42574 | 601 |
| CIDEB | AOC3 | Q16853 | 599 |
| CIDEB | MTTP | P55157 | 551 |
| CIDEB | LAMP2 | P13473 | 545 |
| CIDEB | EEA1 | Q15075 | 544 |
| CIDEB | KLRG1 | Q96E93 | 540 |
| CIDEB | PTPRC | P08575 | 528 |
| CIDEB | IFNG | P01579 | 526 |
| CIDEB | PLIN2 | Q99541 | 521 |
IntAct
225 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CIDEB | CIDEB | psi-mi:“MI:0915”(physical association) | 0.700 |
| CIDEB | MVB12A | psi-mi:“MI:0915”(physical association) | 0.560 |
| TBX2 | CIDEB | psi-mi:“MI:0915”(physical association) | 0.560 |
| FUNDC2 | CIDEB | psi-mi:“MI:0915”(physical association) | 0.560 |
| SMARCC1 | CIDEB | psi-mi:“MI:0915”(physical association) | 0.560 |
| NFU1 | CIDEB | psi-mi:“MI:0915”(physical association) | 0.560 |
| CIDEB | RHBDD2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| COL10A1 | CIDEB | psi-mi:“MI:0915”(physical association) | 0.560 |
| SCO2 | CIDEB | psi-mi:“MI:0915”(physical association) | 0.560 |
| MEST | CIDEB | psi-mi:“MI:0915”(physical association) | 0.560 |
| SPG21 | CIDEB | psi-mi:“MI:0915”(physical association) | 0.560 |
| TEX44 | CIDEB | psi-mi:“MI:0915”(physical association) | 0.560 |
| TIMM17B | CIDEB | psi-mi:“MI:0915”(physical association) | 0.560 |
| ABHD16A | CIDEB | psi-mi:“MI:0915”(physical association) | 0.560 |
| CLCN1 | CIDEB | psi-mi:“MI:0915”(physical association) | 0.560 |
| PPIF | CIDEB | psi-mi:“MI:0915”(physical association) | 0.560 |
| DHRSX | CIDEB | psi-mi:“MI:0915”(physical association) | 0.560 |
| TSR1 | CIDEB | psi-mi:“MI:0915”(physical association) | 0.560 |
| PBX3 | CIDEB | psi-mi:“MI:0915”(physical association) | 0.560 |
| PDHX | CIDEB | psi-mi:“MI:0915”(physical association) | 0.560 |
| PISD | CIDEB | psi-mi:“MI:0915”(physical association) | 0.560 |
| CAND2 | CIDEB | psi-mi:“MI:0915”(physical association) | 0.560 |
| SCO1 | CIDEB | psi-mi:“MI:0915”(physical association) | 0.560 |
| FKBP8 | CIDEB | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (81): MVB12A (Affinity Capture-MS), MVB12A (Affinity Capture-MS), CIDEB (Affinity Capture-RNA), CIDEB (Two-hybrid), CIDEB (Two-hybrid), CIDEB (Two-hybrid), CIDEB (Two-hybrid), CIDEB (Two-hybrid), CIDEB (Two-hybrid), CIDEB (Two-hybrid), CIDEB (Two-hybrid), CIDEB (Two-hybrid), CIDEB (Two-hybrid), CIDEB (Two-hybrid), CIDEB (Two-hybrid)
ESM2 similar proteins: A0A8M9QN10, A1BPI0, A2ARM1, A2CI97, A2CI98, A2CJ06, C9JE40, O15055, O43147, O54943, O70173, O70303, O70361, O95238, P0C2N6, P0C6P5, P56645, P59025, P59729, P97433, Q0P4K8, Q3TD16, Q5EB20, Q5PQS0, Q5SSZ5, Q5VUB5, Q6IRN0, Q6P4K6, Q76I79, Q7TSI1, Q80TQ5, Q80UW3, Q810F8, Q8C8C1, Q8CCC3, Q8CJE2, Q8N1W1, Q8ND61, Q8TB24, Q8WWF5
Diamond homologs: F1MN90, O00273, O54786, O60543, O70302, O70303, P56198, Q3T191, Q5XI33, Q96AQ7, Q9UHD4
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 65 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 |
|---|---|---|---|
| Aerobic respiration and respiratory electron transport | 6 | 14.8× | 5e-04 |
| Respiratory electron transport | 5 | 13.2× | 3e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
117 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 98 |
| Likely benign | 2 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
667 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 14:24306134:CACT:C | acceptor_gain | 1.0000 |
| 14:24306136:CT:C | acceptor_gain | 1.0000 |
| 14:24306370:TTACC:T | donor_loss | 1.0000 |
| 14:24306371:TACC:T | donor_loss | 1.0000 |
| 14:24306372:A:AC | donor_gain | 1.0000 |
| 14:24306372:AC:A | donor_gain | 1.0000 |
| 14:24306372:ACC:A | donor_gain | 1.0000 |
| 14:24306372:ACCC:A | donor_loss | 1.0000 |
| 14:24306373:C:CC | donor_gain | 1.0000 |
| 14:24306373:CC:C | donor_gain | 1.0000 |
| 14:24306373:CCC:C | donor_gain | 1.0000 |
| 14:24306402:TGCAA:T | donor_gain | 1.0000 |
| 14:24306519:AATGC:A | acceptor_gain | 1.0000 |
| 14:24306520:ATGC:A | acceptor_gain | 1.0000 |
| 14:24306521:TGC:T | acceptor_gain | 1.0000 |
| 14:24306522:GC:G | acceptor_gain | 1.0000 |
| 14:24306523:CC:C | acceptor_gain | 1.0000 |
| 14:24306523:CCT:C | acceptor_loss | 1.0000 |
| 14:24306524:C:CC | acceptor_gain | 1.0000 |
| 14:24306528:CCAA:C | acceptor_gain | 1.0000 |
| 14:24306529:C:CT | acceptor_gain | 1.0000 |
| 14:24306529:C:T | acceptor_gain | 1.0000 |
| 14:24306530:A:T | acceptor_gain | 1.0000 |
| 14:24306531:A:AC | acceptor_gain | 1.0000 |
| 14:24306531:A:C | acceptor_gain | 1.0000 |
| 14:24306535:C:CT | acceptor_gain | 1.0000 |
| 14:24306536:A:T | acceptor_gain | 1.0000 |
| 14:24307365:A:AC | donor_gain | 1.0000 |
| 14:24307366:C:CC | donor_gain | 1.0000 |
| 14:24307366:CTTA:C | donor_gain | 1.0000 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000076387 (14:24308808 C>A), RS1000519268 (14:24309126 A>C), RS1000657788 (14:24313263 G>A), RS1001512399 (14:24310053 C>T), RS1001777583 (14:24312013 T>A,C), RS1001807949 (14:24308372 A>G), RS1002566053 (14:24313250 C>T), RS1003131748 (14:24307754 G>A), RS1003612742 (14:24308066 C>T), RS1003777466 (14:24304905 G>A), RS1003797456 (14:24305241 A>C,G), RS1003920918 (14:24305611 G>A,C,T), RS1004174576 (14:24304827 A>C), RS1004288668 (14:24310888 C>T), RS1004397389 (14:24305083 A>C,G)
Disease associations
OMIM: gene MIM:604441 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002371_1 | Parent of origin effect on language impairment (paternal) | 4.000000e-08 |
| GCST008163_14 | Height | 4.000000e-06 |
| GCST010206_7 | Anorectal malformation | 4.000000e-16 |
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 |
|---|---|---|
| Tetrachlorodibenzodioxin | affects cotreatment, decreases expression, increases expression | 3 |
| Cyclosporine | decreases expression | 3 |
| sodium arsenite | decreases expression, increases expression | 2 |
| Arsenic Trioxide | decreases expression, increases expression | 2 |
| Fluorouracil | increases expression | 2 |
| Silicon Dioxide | decreases expression | 2 |
| Aflatoxin B1 | decreases expression, affects expression | 2 |
| methyleugenol | decreases expression | 1 |
| propionaldehyde | decreases expression | 1 |
| VX-agent | increases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects cotreatment, decreases expression | 1 |
| 2,3-dimethoxy-1,4-naphthoquinone | decreases expression | 1 |
| usnic acid | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| pinostrobin | increases expression | 1 |
| Bortezomib | decreases expression | 1 |
| Rosiglitazone | decreases expression | 1 |
| Troglitazone | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Arsenic | affects cotreatment, decreases expression | 1 |
| Benzo(a)pyrene | decreases expression | 1 |
| Cadmium | decreases expression | 1 |
| Cisplatin | increases expression | 1 |
| Dimethylnitrosamine | decreases expression | 1 |
| Endosulfan | decreases expression, affects cotreatment | 1 |
| Estradiol | decreases expression | 1 |
| Fluorides | affects cotreatment, decreases expression | 1 |
| Folic Acid | affects expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): anorectal malformation, specific language impairment 5