MAP1LC3B2
gene geneOn this page
Also known as ATG8G
Summary
MAP1LC3B2 (microtubule associated protein 1 light chain 3 beta 2, HGNC:34390) is a protein-coding gene on chromosome 12q24.22, encoding Microtubule-associated protein 1 light chain 3 beta 2 (A6NCE7). Ubiquitin-like modifier involved in formation of autophagosomal vacuoles (autophagosomes).
Predicted to enable microtubule binding activity; phosphatidylethanolamine binding activity; and ubiquitin protein ligase binding activity. Predicted to be involved in cellular response to nitrogen starvation and macroautophagy. Predicted to be located in several cellular components, including cytoplasmic vesicle; endomembrane system; and microtubule. Predicted to be active in autophagosome membrane.
Source: NCBI Gene 643246 — RefSeq curated summary.
At a glance
- Gene–disease (curated): hereditary predisposition to infections (Limited, GenCC)
- GWAS associations: 2
- Clinical variants (ClinVar): 22 total
- MANE Select transcript:
NM_001085481
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:34390 |
| Approved symbol | MAP1LC3B2 |
| Name | microtubule associated protein 1 light chain 3 beta 2 |
| Location | 12q24.22 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ATG8G |
| Ensembl gene | ENSG00000258102 |
| Ensembl biotype | protein_coding |
| OMIM | 620673 |
| Entrez | 643246 |
Gene structure
Transcript identifiers
Ensembl transcripts: 4 — 2 protein_coding_CDS_not_defined, 1 protein_coding, 1 retained_intron
ENST00000547114, ENST00000556529, ENST00000625301, ENST00000630062
RefSeq mRNA: 1 — MANE Select: NM_001085481
NM_001085481
CCDS: CCDS41841
Canonical transcript exons
ENST00000556529 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002522833 | 116575842 | 116576606 |
| ENSE00003771783 | 116559381 | 116559433 |
Expression profiles
Bgee: expression breadth ubiquitous, 133 present calls, max score 87.93.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.4365 / max 163.3760, expressed in 76 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 128230 | 0.1427 | 31 |
| 128231 | 0.0918 | 20 |
| 128237 | 0.0788 | 31 |
| 206916 | 0.0637 | 15 |
| 128229 | 0.0595 | 17 |
Top tissues by expression
134 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cerebellar hemisphere | UBERON:0002245 | 87.93 | gold quality |
| cerebellar cortex | UBERON:0002129 | 87.82 | gold quality |
| cerebellum | UBERON:0002037 | 87.76 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 87.71 | gold quality |
| blood | UBERON:0000178 | 85.85 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 83.40 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 82.39 | gold quality |
| left ovary | UBERON:0002119 | 81.02 | gold quality |
| gastrocnemius | UBERON:0001388 | 80.69 | gold quality |
| tibial nerve | UBERON:0001323 | 80.64 | gold quality |
| prefrontal cortex | UBERON:0000451 | 80.54 | gold quality |
| stromal cell of endometrium | CL:0002255 | 79.53 | gold quality |
| ovary | UBERON:0000992 | 79.32 | gold quality |
| right ovary | UBERON:0002118 | 79.20 | gold quality |
| muscle of leg | UBERON:0001383 | 78.68 | gold quality |
| sural nerve | UBERON:0015488 | 78.59 | gold quality |
| cortical plate | UBERON:0005343 | 78.42 | gold quality |
| skin of abdomen | UBERON:0001416 | 77.81 | gold quality |
| frontal cortex | UBERON:0001870 | 77.70 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 77.43 | gold quality |
| zone of skin | UBERON:0000014 | 77.01 | gold quality |
| primary visual cortex | UBERON:0002436 | 76.91 | gold quality |
| skin of leg | UBERON:0001511 | 76.70 | gold quality |
| omental fat pad | UBERON:0010414 | 76.64 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 76.59 | gold quality |
| granulocyte | CL:0000094 | 75.98 | gold quality |
| mucosa of stomach | UBERON:0001199 | 75.91 | gold quality |
| brain | UBERON:0000955 | 75.89 | gold quality |
| left uterine tube | UBERON:0001303 | 75.78 | gold quality |
| heart left ventricle | UBERON:0002084 | 75.77 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 16.15 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
27 targeting MAP1LC3B2, 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-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-6508-5P | 99.92 | 70.67 | 2465 |
| HSA-MIR-211-5P | 99.79 | 71.65 | 2440 |
| HSA-MIR-204-5P | 99.79 | 71.62 | 2439 |
| HSA-MIR-320A-3P | 99.77 | 69.73 | 2107 |
| HSA-MIR-320B | 99.77 | 69.73 | 2107 |
| HSA-MIR-320C | 99.77 | 69.73 | 2107 |
| HSA-MIR-320D | 99.77 | 69.73 | 2107 |
| HSA-MIR-4429 | 99.77 | 69.62 | 2111 |
| HSA-MIR-4679 | 99.76 | 69.19 | 1229 |
| HSA-MIR-518A-5P | 99.70 | 69.01 | 2209 |
| HSA-MIR-527 | 99.70 | 69.01 | 2209 |
| HSA-MIR-452-5P | 99.65 | 69.63 | 1762 |
| HSA-MIR-4676-3P | 99.65 | 69.31 | 1733 |
| HSA-MIR-892C-3P | 99.65 | 69.38 | 1745 |
| HSA-MIR-4328 | 99.57 | 71.06 | 4094 |
| HSA-MIR-6832-3P | 99.52 | 70.44 | 1726 |
| HSA-MIR-629-5P | 98.78 | 68.72 | 1032 |
| HSA-MIR-5197-3P | 98.71 | 67.05 | 1905 |
| HSA-MIR-432-5P | 98.00 | 68.13 | 989 |
| HSA-MIR-188-5P | 97.89 | 67.01 | 756 |
| HSA-MIR-203B-3P | 97.82 | 66.27 | 979 |
| HSA-MIR-483-3P | 97.77 | 64.95 | 731 |
| HSA-MIR-4708-5P | 97.77 | 67.82 | 831 |
| HSA-MIR-6866-3P | 97.38 | 66.94 | 748 |
| HSA-MIR-6874-5P | 95.73 | 64.94 | 545 |
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | map1lc3b | ENSDARG00000101127 |
| caenorhabditis_elegans | WBGENE00002981 |
Paralogs (6): GABARAPL2 (ENSG00000034713), MAP1LC3A (ENSG00000101460), GABARAPL1 (ENSG00000139112), MAP1LC3B (ENSG00000140941), GABARAP (ENSG00000170296), MAP1LC3C (ENSG00000197769)
Protein
Protein identifiers
Microtubule-associated protein 1 light chain 3 beta 2 — A6NCE7 (reviewed: A6NCE7)
Alternative names: Microtubule-associated proteins 1A/1B light chain 3 beta 2, Microtubule-associated proteins 1A/1B light chain 3B-like
All UniProt accessions (1): A6NCE7
UniProt curated annotations — full annotation on UniProt →
Function. Ubiquitin-like modifier involved in formation of autophagosomal vacuoles (autophagosomes). Plays a role in mitophagy which contributes to regulate mitochondrial quantity and quality by eliminating the mitochondria to a basal level to fulfill cellular energy requirements and preventing excess ROS production. In response to cellular stress and upon mitochondria fission, binds C-18 ceramides and anchors autophagolysosomes to outer mitochondrial membranes to eliminate damaged mitochondria. While LC3s are involved in elongation of the phagophore membrane, the GABARAP/GATE-16 subfamily is essential for a later stage in autophagosome maturation.
Subunit / interactions. 3 different light chains, LC1 (a cleavage product of MAP1B), LC2 (a cleavage product of MAP1A) and LC3 (produced by one of the MAP1LC3 genes), can associate with the MAP1A or MAP1B heavy chains.
Subcellular location. Cytoplasmic vesicle. Autophagosome membrane. Endomembrane system. Cytoplasm. Cytoskeleton.
Post-translational modifications. The precursor molecule is cleaved by ATG4 (ATG4A, ATG4B, ATG4C or ATG4D) to expose the glycine at the C-terminus and form the cytosolic form, LC3-I. The processed form is then activated by APG7L/ATG7, transferred to ATG3 and conjugated to phosphatidylethanolamine (PE) phospholipid to form the membrane-bound form, LC3-II. During non-canonical autophagy, the processed form is conjugated to phosphatidylserine (PS) phospholipid. ATG4 proteins also mediate the delipidation of PE-conjugated forms. In addition, ATG4B and ATG4D mediate delipidation of ATG8 proteins conjugated to PS during non-canonical autophagy.
Similarity. Belongs to the ATG8 family.
RefSeq proteins (1): NP_001078950* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR004241 | Atg8-like | Family |
| IPR029071 | Ubiquitin-like_domsf | Homologous_superfamily |
Pfam: PF02991
UniProt features (5 total): lipid moiety-binding region 2, chain 1, propeptide 1, site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-A6NCE7-F1 | 92.12 | 0.80 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (1): 120–121 (cleavage; by atg4b)
Post-translational modifications (2): 120, 120
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 62 (showing top):
GOBP_VACUOLE_ORGANIZATION, GOCC_VACUOLAR_MEMBRANE, GOBP_MACROAUTOPHAGY, GOBP_ORGANELLE_ASSEMBLY, GOBP_CELLULAR_RESPONSE_TO_STARVATION, GOBP_AUTOPHAGOSOME_ORGANIZATION, GOBP_RESPONSE_TO_STARVATION, SASSON_RESPONSE_TO_GONADOTROPHINS_UP, GOCC_AUTOPHAGOSOME, GOCC_AUTOPHAGOSOME_MEMBRANE, chr12q24, GOMF_CYTOSKELETAL_PROTEIN_BINDING, GOMF_UBIQUITIN_LIKE_PROTEIN_LIGASE_BINDING, GOMF_LIPID_BINDING, GOMF_PHOSPHOLIPID_BINDING
GO Biological Process (6): autophagosome assembly (GO:0000045), mitophagy (GO:0000423), cellular response to nitrogen starvation (GO:0006995), autophagosome maturation (GO:0097352), autophagy of mitochondrion (GO:0000422), autophagy (GO:0006914)
GO Molecular Function (4): microtubule binding (GO:0008017), phosphatidylethanolamine binding (GO:0008429), ubiquitin protein ligase binding (GO:0031625), phospholipid binding (GO:0005543)
GO Cellular Component (8): autophagosome membrane (GO:0000421), microtubule (GO:0005874), endomembrane system (GO:0012505), cytoplasmic vesicle (GO:0031410), cytoplasm (GO:0005737), autophagosome (GO:0005776), cytoskeleton (GO:0005856), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| macroautophagy | 2 |
| vacuole | 2 |
| Atg12 activating enzyme activity | 1 |
| protein-phosphatidylethanolamide deconjugating activity | 1 |
| Atg12 conjugating enzyme activity | 1 |
| Atg12 ligase activity | 1 |
| organelle assembly | 1 |
| Atg1/ULK1 kinase complex assembly | 1 |
| autophagosome organization | 1 |
| autophagy of mitochondrion | 1 |
| cellular response to starvation | 1 |
| cellular response to nitrogen levels | 1 |
| protein-containing complex disassembly | 1 |
| autophagy | 1 |
| catabolic process | 1 |
| transmembrane transport | 1 |
| process utilizing autophagic mechanism | 1 |
| tubulin binding | 1 |
| phospholipid binding | 1 |
| ubiquitin-like protein ligase binding | 1 |
| lipid binding | 1 |
| vacuolar membrane | 1 |
| autophagosome | 1 |
| microtubule cytoskeleton | 1 |
| polymeric cytoskeletal fiber | 1 |
| plasma membrane | 1 |
| cytoplasm | 1 |
| intracellular vesicle | 1 |
| intracellular anatomical structure | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
1085 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MAP1LC3B2 | SQSTM1 | Q13501 | 644 |
| MAP1LC3B2 | ATG5 | Q9H1Y0 | 611 |
| MAP1LC3B2 | ATG3 | Q9NT62 | 591 |
| MAP1LC3B2 | ATG12 | O94817 | 577 |
| MAP1LC3B2 | ATG7 | O95352 | 541 |
| MAP1LC3B2 | NBR1 | Q14596 | 529 |
| MAP1LC3B2 | ATG4A | Q8WYN0 | 487 |
| MAP1LC3B2 | CALCOCO2 | Q13137 | 487 |
| MAP1LC3B2 | BECN1 | Q14457 | 479 |
| MAP1LC3B2 | ATG16L1 | Q676U5 | 452 |
| MAP1LC3B2 | ATG9A | Q7Z3C6 | 450 |
| MAP1LC3B2 | ATG10 | Q9H0Y0 | 439 |
| MAP1LC3B2 | ATG13 | O75143 | 438 |
| MAP1LC3B2 | DIMT1 | Q9UNQ2 | 433 |
| MAP1LC3B2 | BNIP3L | O60238 | 427 |
IntAct
23 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TSPAN3 | MAP1LC3B2 | psi-mi:“MI:0914”(association) | 0.530 |
| SLC9A6 | MAP1LC3B2 | psi-mi:“MI:0914”(association) | 0.530 |
| ATG3 | MAP1LC3B2 | psi-mi:“MI:0914”(association) | 0.530 |
| TNFRSF10A | MAP1LC3B2 | psi-mi:“MI:0914”(association) | 0.350 |
| RUSF1 | MAP1LC3B2 | psi-mi:“MI:0914”(association) | 0.350 |
| RETREG1 | MAP1LC3B2 | psi-mi:“MI:0914”(association) | 0.350 |
| ATG3 | MAP1LC3B2 | psi-mi:“MI:0914”(association) | 0.350 |
| NUFIP1 | MAP1LC3B2 | psi-mi:“MI:0914”(association) | 0.350 |
| KIF3A | MAP1LC3B2 | psi-mi:“MI:0914”(association) | 0.350 |
| MAP1LC3B | MAP1LC3B2 | psi-mi:“MI:0914”(association) | 0.350 |
| ATG10 | MAP1LC3B2 | psi-mi:“MI:0914”(association) | 0.350 |
| Npc1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| CAV1 | MAP1LC3B2 | psi-mi:“MI:0914”(association) | 0.350 |
| SNX33 | MAP1LC3B2 | psi-mi:“MI:0914”(association) | 0.350 |
| TPX2 | MAP1LC3B2 | psi-mi:“MI:0914”(association) | 0.350 |
| ATG4B | MAP1LC3B2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (26): MAP1LC3B2 (Affinity Capture-MS), MAP1LC3B2 (Affinity Capture-MS), MAP1LC3B2 (Affinity Capture-MS), MAP1LC3B2 (Affinity Capture-MS), MAP1LC3B2 (Affinity Capture-MS), MAP1LC3B2 (Affinity Capture-MS), MAP1LC3B2 (Affinity Capture-MS), MAP1LC3B2 (Affinity Capture-MS), MAP1LC3B2 (Affinity Capture-MS), MAP1LC3B2 (Affinity Capture-MS), MAP1LC3B2 (Affinity Capture-MS), MAP1LC3B2 (Affinity Capture-Western), MAP1LC3B2 (Affinity Capture-MS), MAP1LC3B2 (Affinity Capture-MS), MAP1LC3B2 (Affinity Capture-MS)
ESM2 similar proteins: A1CQS1, A1D3N4, A2XXR7, A2YAG8, A2YS06, A6NCE7, A6RPU4, A7KAL9, I1S1W5, J4UTT5, M1C146, M2SQA5, N4X184, O41515, P0CM28, P0CM29, P60519, P60520, P60521, P60522, Q0C804, Q0V3Y9, Q1E4K5, Q1SF86, Q2HJ23, Q2RBS4, Q2UBH5, Q2XPP5, Q4P2U6, Q4WJ27, Q69NP0, Q69RC4, Q6XVN8, Q6Z1D5, Q7XPR1, Q86CR8, Q8J282, Q8LEM4, Q8S924, Q8S925
Diamond homologs: A0A1B7XV12, A1CQS1, A1D3N4, A2QPN1, A2XXR7, A2YS06, A3GFU8, A4LA70, A5DWI6, A6NCE7, A6RPU4, A6ZKM4, A7E8H4, A7KAL9, A7TDU7, C4B4E4, I1S1W5, J4UTT5, M1C146, M2SQA5, N4X184, O41515, O94272, O95166, P0C075, P0CO54, P0CO55, P38182, P60517, P60518, P60519, P60520, P60521, P60522, P87068, Q09490, Q0C804, Q0V3Y9, Q0VGK0, Q1E4K5
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 16 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.
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| protein transport | 5 | 16.9× | 4e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
22 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 18 |
| Likely benign | 0 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
312 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:116575834:A:AG | acceptor_gain | 0.9900 |
| 12:116575835:A:G | acceptor_gain | 0.9900 |
| 12:116575840:A:AG | acceptor_gain | 0.9900 |
| 12:116575841:G:GG | acceptor_gain | 0.9900 |
| 12:116575841:GCCTT:G | acceptor_gain | 0.9900 |
| 12:116575831:T:TA | acceptor_gain | 0.9800 |
| 12:116575841:GC:G | acceptor_gain | 0.9800 |
| 12:116575841:GCC:G | acceptor_gain | 0.9800 |
| 12:116575838:ATAGC:A | acceptor_loss | 0.9700 |
| 12:116575840:A:AT | acceptor_loss | 0.9700 |
| 12:116575828:T:G | acceptor_loss | 0.9600 |
| 12:116575841:GCCT:G | acceptor_gain | 0.9600 |
| 12:116560178:C:G | donor_gain | 0.9300 |
| 12:116559430:GCGG:G | donor_gain | 0.8800 |
| 12:116559768:TCC:T | donor_gain | 0.8800 |
| 12:116560177:GC:G | donor_gain | 0.8800 |
| 12:116575837:A:G | acceptor_gain | 0.8800 |
| 12:116560178:C:CG | donor_gain | 0.8700 |
| 12:116559531:C:T | donor_gain | 0.8600 |
| 12:116575823:T:A | acceptor_loss | 0.8600 |
| 12:116575829:T:A | acceptor_gain | 0.8400 |
| 12:116559494:C:T | donor_gain | 0.8300 |
| 12:116568041:G:GG | donor_gain | 0.8200 |
| 12:116559610:G:GG | donor_gain | 0.8100 |
| 12:116559404:G:GT | donor_gain | 0.8000 |
| 12:116575839:TAGC:T | acceptor_gain | 0.7800 |
| 12:116576187:T:A | acceptor_gain | 0.7800 |
| 12:116559525:TG:T | donor_gain | 0.7700 |
| 12:116568040:A:AG | donor_gain | 0.7700 |
| 12:116571800:G:T | donor_gain | 0.7700 |
AlphaMissense
823 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:116576096:T:C | F52L | 0.993 |
| 12:116576098:C:A | F52L | 0.993 |
| 12:116576098:C:G | F52L | 0.993 |
| 12:116575990:A:C | R16S | 0.985 |
| 12:116575990:A:T | R16S | 0.985 |
| 12:116576264:T:C | F108L | 0.984 |
| 12:116576266:C:A | F108L | 0.984 |
| 12:116576266:C:G | F108L | 0.984 |
| 12:116575961:T:C | F7L | 0.982 |
| 12:116575963:C:A | F7L | 0.982 |
| 12:116575963:C:G | F7L | 0.982 |
| 12:116576095:G:C | K51N | 0.982 |
| 12:116576095:G:T | K51N | 0.982 |
| 12:116575989:G:C | R16T | 0.978 |
| 12:116576097:T:C | F52S | 0.978 |
| 12:116575966:G:C | K8N | 0.974 |
| 12:116575966:G:T | K8N | 0.974 |
| 12:116576032:A:C | K30N | 0.973 |
| 12:116576032:A:T | K30N | 0.973 |
| 12:116576043:T:A | I34K | 0.973 |
| 12:116576013:G:C | R24P | 0.972 |
| 12:116575989:G:T | R16I | 0.967 |
| 12:116576100:T:A | L53H | 0.966 |
| 12:116576130:T:C | L63P | 0.965 |
| 12:116576210:A:C | S90R | 0.965 |
| 12:116576212:C:A | S90R | 0.965 |
| 12:116576212:C:G | S90R | 0.965 |
| 12:116576297:T:C | F119L | 0.965 |
| 12:116576299:C:A | F119L | 0.965 |
| 12:116576299:C:G | F119L | 0.965 |
dbSNP variants (sampled 300 via entrez): RS1000336060 (12:116575037 G>A), RS1000783233 (12:116570481 T>C), RS1000845966 (12:116569230 A>G), RS1000880112 (12:116575337 C>T), RS1000880255 (12:116572735 C>G), RS1001126441 (12:116557769 G>A), RS1001513692 (12:116558059 C>A,T), RS1001611485 (12:116575676 T>A,C), RS1001948422 (12:116576979 A>G), RS1002061746 (12:116564973 T>G), RS1002154336 (12:116571170 C>G), RS1002222283 (12:116570009 G>A,T), RS1002229646 (12:116576041 G>A,T), RS1002398521 (12:116570011 G>A,C), RS1002414506 (12:116558721 C>T)
Disease associations
OMIM: gene MIM:620673 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| hereditary predisposition to infections | Limited | Autosomal dominant |
Mondo (1): (MONDO:0015979)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002875_60 | Diisocyanate-induced asthma | 2.000000e-06 |
| GCST006988_116 | Blond vs. brown/black hair color | 2.000000e-10 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006995 | response to diisocyanate |
| EFO:0003924 | hair color |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
34 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases reaction, increases expression, affects expression, decreases expression | 4 |
| aristolochic acid I | increases expression | 1 |
| ginger extract | decreases expression, increases abundance | 1 |
| triphenyl phosphate | affects expression | 1 |
| astaxanthine | decreases reaction, increases expression | 1 |
| trichostatin A | affects expression | 1 |
| beta-lapachone | increases expression | 1 |
| sodium arsenite | increases expression | 1 |
| potassium chromate(VI) | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| chromium hexavalent ion | increases expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| trovafloxacin | decreases reaction, increases expression | 1 |
| 2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one | decreases reaction, increases expression | 1 |
| K 7174 | increases expression | 1 |
| 3-(4-methylphenylsulfonyl)-2-propenenitrile | decreases reaction, increases expression | 1 |
| abrine | increases expression | 1 |
| licochalcone B | increases expression | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Arsenic Trioxide | increases expression | 1 |
| Leflunomide | increases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Acetylcysteine | decreases reaction, increases expression | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Benzo(a)pyrene | affects methylation, decreases methylation | 1 |
| Cisplatin | affects cotreatment, decreases expression | 1 |
| Diquat | increases expression | 1 |
| Oils, Volatile | decreases expression, increases abundance | 1 |
| Silver | increases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_E0H0 | Ubigene HeLa MAP1LC3B2 KO | Cancer cell line | Female |
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.