MAEA

Summary

MAEA (macrophage erythroblast attacher, E3 ubiquitin ligase, HGNC:13731) is a protein-coding gene on chromosome 4p16.3, encoding E3 ubiquitin-protein transferase MAEA (Q7L5Y9). Core component of the CTLH E3 ubiquitin-protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1. It is a selective cancer dependency (DepMap: 32.0% of cell lines).

This gene encodes a protein that mediates the attachment of erythroblasts to macrophages. This attachment promotes terminal maturation and enucleation of erythroblasts, presumably by suppressing apoptosis. The encoded protein is an integral membrane protein with the N-terminus on the extracellular side and the C-terminus on the cytoplasmic side of the cell. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 10296 — RefSeq curated summary.

At a glance

• GWAS associations: 10
• Clinical variants (ClinVar): 57 total — 1 pathogenic
• Cancer dependency (DepMap): dependent in 32.0% of screened cell lines
• MANE Select transcript: NM_001017405

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:13731
Approved symbol	MAEA
Name	macrophage erythroblast attacher, E3 ubiquitin ligase
Location	4p16.3
Locus type	gene with protein product
Status	Approved
Aliases	EMP, GID9, p44EMLP, HLC-10
Ensembl gene	ENSG00000090316
Ensembl biotype	protein_coding
OMIM	606801
Entrez	10296

Gene structure

Transcript identifiers

Ensembl transcripts: 33 — 22 protein_coding, 4 retained_intron, 4 nonsense_mediated_decay, 3 protein_coding_CDS_not_defined

ENST00000264750, ENST00000303400, ENST00000502558, ENST00000503162, ENST00000503653, ENST00000503693, ENST00000505177, ENST00000505839, ENST00000506530, ENST00000508634, ENST00000509254, ENST00000509531, ENST00000510794, ENST00000510862, ENST00000512289, ENST00000512308, ENST00000512842, ENST00000513301, ENST00000514708, ENST00000515766, ENST00000868651, ENST00000868652, ENST00000868653, ENST00000868654, ENST00000868655, ENST00000868656, ENST00000926209, ENST00000926210, ENST00000926211, ENST00000926212, ENST00000926213, ENST00000967007, ENST00000967008

RefSeq mRNA: 6 — MANE Select: NM_001017405 NM_001017405, NM_001297430, NM_001297431, NM_001297432, NM_001297433, NM_005882

CCDS: CCDS33936, CCDS33937, CCDS75090, CCDS77887, CCDS77888

Canonical transcript exons

ENST00000303400 — 9 exons

Exon	Start	End
ENSE00001559530	1289891	1289982
ENSE00002041873	1339074	1340137
ENSE00003504244	1336861	1336994
ENSE00003575604	1332757	1332865
ENSE00003609062	1315397	1315600
ENSE00003609198	1338422	1338617
ENSE00003659530	1327627	1327703
ENSE00003675900	1322381	1322503
ENSE00003689873	1311979	1312161

Expression profiles

Bgee: expression breadth ubiquitous, 299 present calls, max score 96.58.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 40.8477 / max 339.9542, expressed in 1825 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
46550	40.8477	1825

Top tissues by expression

301 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
middle frontal gyrus	UBERON:0002702	96.58	gold quality
frontal pole	UBERON:0002795	96.49	gold quality
paraflocculus	UBERON:0005351	96.07	gold quality
endometrium epithelium	UBERON:0004811	96.02	gold quality
metanephros cortex	UBERON:0010533	95.98	gold quality
blood	UBERON:0000178	95.75	gold quality
mucosa of transverse colon	UBERON:0004991	95.63	gold quality
Brodmann (1909) area 10	UBERON:0013541	95.53	gold quality
adenohypophysis	UBERON:0002196	95.22	gold quality
right adrenal gland cortex	UBERON:0035827	95.22	gold quality
apex of heart	UBERON:0002098	95.07	gold quality
pituitary gland	UBERON:0000007	94.90	gold quality
transverse colon	UBERON:0001157	94.88	gold quality
left lobe of thyroid gland	UBERON:0001120	94.84	gold quality
middle temporal gyrus	UBERON:0002771	94.84	gold quality
right lobe of thyroid gland	UBERON:0001119	94.82	gold quality
right adrenal gland	UBERON:0001233	94.81	gold quality
left adrenal gland	UBERON:0001234	94.75	gold quality
spleen	UBERON:0002106	94.72	gold quality
left adrenal gland cortex	UBERON:0035825	94.66	gold quality
granulocyte	CL:0000094	94.60	gold quality
body of stomach	UBERON:0001161	94.56	gold quality
adrenal cortex	UBERON:0001235	94.52	gold quality
small intestine Peyer’s patch	UBERON:0003454	94.50	gold quality
lower esophagus mucosa	UBERON:0035834	94.49	gold quality
skin of leg	UBERON:0001511	94.38	gold quality
tibia	UBERON:0000979	94.36	gold quality
esophagus mucosa	UBERON:0002469	94.34	gold quality
thyroid gland	UBERON:0002046	94.27	gold quality
left uterine tube	UBERON:0001303	94.22	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.11
E-MTAB-7249	no	1963.45
E-MTAB-6524	no	92.00
E-CURD-112	no	2.59

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

47 targeting MAEA, 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-9-5P	100.00	72.28	2361
HSA-MIR-4455	100.00	65.48	1587
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-1236-3P	99.94	68.04	1695
HSA-MIR-539-5P	99.93	70.30	2855
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-3686	99.90	70.53	2432
HSA-MIR-579-3P	99.86	71.66	3628
HSA-MIR-5003-3P	99.85	69.29	2517
HSA-MIR-664B-3P	99.84	71.65	3590
HSA-MIR-139-5P	99.80	69.50	1399
HSA-MIR-2052	99.79	69.37	2031
HSA-MIR-26A-5P	99.78	73.52	2303
HSA-MIR-26B-5P	99.78	73.51	2305
HSA-MIR-4465	99.71	72.56	2096
HSA-MIR-3158-5P	99.65	67.51	1763
HSA-MIR-582-5P	99.47	70.79	2635
HSA-MIR-5697	99.39	67.74	1249
HSA-MIR-4786-3P	99.36	68.35	1390
HSA-MIR-6853-3P	99.36	70.79	1558
HSA-MIR-133A-3P	99.27	71.53	1270
HSA-MIR-133B	99.27	71.53	1270
HSA-MIR-5690	99.25	67.58	1012
HSA-MIR-6744-3P	99.22	64.41	972
HSA-MIR-6809-5P	99.13	68.45	1223
HSA-MIR-4757-5P	99.12	64.51	981

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 32.0% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 7)

• These results suggest that Emp undergoes dynamic rearrangements within the nuclear architecture that are correlated with cell division. (PMID:16510120)
• RanBPM, ARMC8alpha, ARMC8beta, Muskelin, p48EMLP, and p44CTLH form complexes in cells. (PMID:17467196)
• Emp expression correlates with erythroblastic island formation and has an important function for bone marrow hematopoiesis. (PMID:23566571)
• The MAEA gene polymorphism rs6815464 was associated with low hip bone mineral density in postmenopausal Japanese women. (PMID:30890479)
• MAEA gene polymorphism was independently associated with severe periodontitis (PMID:31005685)
• Common variants in MAEA gene contributed the susceptibility to osteoporosis in Han Chinese postmenopausal women. (PMID:33423677)
• E3 ligase MAEA-mediated ubiquitination and degradation of PHD3 promotes glioblastoma progression. (PMID:36882523)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	maea	ENSDARG00000053691
mus_musculus	Maea	ENSMUSG00000079562
rattus_norvegicus	Maea	ENSRNOG00000005397
drosophila_melanogaster	Kaz	FBGN0051357
caenorhabditis_elegans	maea-1	WBGENE00012366

Paralogs (2): RMND5B (ENSG00000145916), RMND5A (ENSG00000153561)

Protein

Protein identifiers

E3 ubiquitin-protein transferase MAEA — Q7L5Y9 (reviewed: Q7L5Y9)

Alternative names: Cell proliferation-inducing gene 5 protein, Erythroblast macrophage protein, Human lung cancer oncogene 10 protein, Macrophage erythroblast attacher, P44EMLP

All UniProt accessions (11): Q7L5Y9, B4DQT1, B4DVN3, D6R8Z3, D6RA86, D6RDW4, D6RE80, D6REW7, D6RIB6, D6RID6, E7ESC7

UniProt curated annotations — full annotation on UniProt →

Function. Core component of the CTLH E3 ubiquitin-protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1. MAEA and RMND5A are both required for catalytic activity of the CTLH E3 ubiquitin-protein ligase complex. MAEA is required for normal cell proliferation. The CTLH E3 ubiquitin-protein ligase complex is not required for the degradation of enzymes involved in gluconeogenesis, such as FBP1. Plays a role in erythroblast enucleation during erythrocyte maturation and in the development of mature macrophages. Mediates the attachment of erythroid cell to mature macrophages; this MAEA-mediated contact inhibits erythroid cell apoptosis. Participates in erythroblastic island formation, which is the functional unit of definitive erythropoiesis. Associates with F-actin to regulate actin distribution in erythroblasts and macrophages. May contribute to nuclear architecture and cells division events.

Subunit / interactions. Identified in the CTLH complex that contains GID4, RANBP9 and/or RANBP10, MKLN1, MAEA, RMND5A (or alternatively its paralog RMND5B), GID8, ARMC8, WDR26 and YPEL5. Within this complex, MAEA, RMND5A (or alternatively its paralog RMND5B), GID8, WDR26, and RANBP9 and/or RANBP10 form the catalytic core, while GID4, MKLN1, ARMC8 and YPEL5 have ancillary roles. Interacts with F-actin.

Subcellular location. Cytoplasm. Nucleus. Nucleoplasm. Nucleus matrix. Cell membrane. Cytoskeleton.

Tissue specificity. Detected at macrophage membranes (at protein level). Ubiquitous.

Post-translational modifications. Autoubiquitinated as component of the CTLH E3 ubiquitin-protein ligase complex (in vitro).

Domain organisation. The expected RING-type zinc finger domain is highly divergent and most of the expected Cys residues are not conserved. Still, the protein is required for CTLH complex E3 ubiquitin-protein transferase activity. In addition, the conserved Cys-314 in this highly divergent region is required for ubiquitination by the yeast GID complex, suggesting a direct role in catalyzing ubiquitination.

Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Isoforms (5)

UniProt ID	Names	Canonical?
Q7L5Y9-1	1	yes
Q7L5Y9-2	2
Q7L5Y9-3	3
Q7L5Y9-4	4
Q7L5Y9-5	5

RefSeq proteins (6): NP_001017405, NP_001284359, NP_001284360, NP_001284361, NP_001284362, NP_005873 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006594	LisH	Conserved_site
IPR006595	CTLH_C	Domain
IPR013144	CRA_dom	Domain
IPR024964	CTLH/CRA	Domain
IPR044063	ZF_RING_GID	Domain
IPR045098	Fyv10_fam	Family

Pfam: PF10607

UniProt features (50 total): helix 22, splice variant 6, sequence conflict 6, turn 4, strand 4, domain 2, chain 1, sequence variant 1, zinc finger region 1, region of interest 1, site 1, modified residue 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
8PJN	ELECTRON MICROSCOPY	3.4

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q7L5Y9-F1	91.80	0.81

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): 314 (essential for ubiquitin ligase activity)

Post-translational modifications (1): 28

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-9861718	Regulation of pyruvate metabolism
R-HSA-1428517	Aerobic respiration and respiratory electron transport
R-HSA-1430728	Metabolism
R-HSA-70268	Pyruvate metabolism

MSigDB gene sets: 203 (showing top): GSE45365_NK_CELL_VS_CD8_TCELL_DN, GOBP_MYELOID_CELL_DIFFERENTIATION, AHRARNT_01, GOBP_MYELOID_CELL_HOMEOSTASIS, GCM_GSPT1, GOBP_MYELOID_CELL_DEVELOPMENT, GOBP_ERYTHROCYTE_HOMEOSTASIS, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, TGACCTY_ERR1_Q2, YY1_Q6, GOBP_ANATOMICAL_STRUCTURE_MATURATION, MODULE_239, YY1_02, MORF_CTBP1, GOBP_CELL_MATURATION

GO Biological Process (9): cytoskeleton organization (GO:0007010), cell adhesion (GO:0007155), regulation of mitotic cell cycle (GO:0007346), negative regulation of myeloid cell apoptotic process (GO:0033033), proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161), erythrocyte maturation (GO:0043249), enucleate erythrocyte development (GO:0048822), cell division (GO:0051301), erythrocyte development (GO:0048821)

GO Molecular Function (7): actin binding (GO:0003779), zinc ion binding (GO:0008270), ubiquitin protein ligase activity (GO:0061630), ubiquitin-protein transferase activity (GO:0004842), protein binding (GO:0005515), transferase activity (GO:0016740), metal ion binding (GO:0046872)

GO Cellular Component (13): ubiquitin ligase complex (GO:0000151), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), spindle (GO:0005819), actomyosin contractile ring (GO:0005826), cytosol (GO:0005829), cytoskeleton (GO:0005856), plasma membrane (GO:0005886), nuclear matrix (GO:0016363), GID complex (GO:0034657), actin cytoskeleton (GO:0015629), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Pyruvate metabolism	1
Metabolism	1
Aerobic respiration and respiratory electron transport	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	5
cellular process	2
erythrocyte development	2
nuclear lumen	2
intracellular membraneless organelle	2
organelle organization	1
mitotic cell cycle	1
regulation of cell cycle	1
myeloid cell apoptotic process	1
regulation of myeloid cell apoptotic process	1
negative regulation of apoptotic process	1
ubiquitin-dependent protein catabolic process	1
proteasomal protein catabolic process	1
cell maturation	1
enucleate erythrocyte differentiation	1
erythrocyte differentiation	1
myeloid cell development	1
cytoskeletal protein binding	1
transition metal ion binding	1
ubiquitin-protein transferase activity	1
ubiquitin-like protein ligase activity	1
ubiquitin-like protein transferase activity	1
binding	1
catalytic activity	1
cation binding	1
intracellular protein-containing complex	1
transferase complex	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
microtubule cytoskeleton	1
cortical actin cytoskeleton	1
cell division site	1
contractile ring	1
cytoplasm	1
membrane	1
cell periphery	1
ubiquitin ligase complex	1
cytoskeleton	1

Protein interactions and networks

STRING

1400 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MAEA	ARMC8	Q8IUR7	870
MAEA	VTN	P01141	810
MAEA	GID8	Q9NWU2	804
MAEA	WDR26	Q9H7D7	799
MAEA	GID4	Q8IVV7	787
MAEA	MKLN1	Q9UL63	756
MAEA	ICAM4	Q14773	734
MAEA	RANBP10	Q6VN20	707
MAEA	YPEL5	P62699	697
MAEA	RANBP9	Q96S59	632
MAEA	R3HDML	Q9H3Y0	596
MAEA	KCNK16	Q96T55	590
MAEA	RMND5A	Q9H871	582
MAEA	RMND5B	Q96G75	577
MAEA	GCC1	Q96CN9	571

IntAct

177 interactions, top by confidence:

A	B	Type	Score
ARMC8	HTRA2	psi-mi:“MI:0914”(association)	0.750
GID8	MAEA	psi-mi:“MI:0914”(association)	0.730
GID8	PGRMC2	psi-mi:“MI:0914”(association)	0.640
RANBP10	MAEA	psi-mi:“MI:0914”(association)	0.640
RANBP9	YPEL5	psi-mi:“MI:0914”(association)	0.640
CRIPTO	AIP	psi-mi:“MI:0914”(association)	0.640
CCDC120	AIP	psi-mi:“MI:0914”(association)	0.640
NDUFS6	NDUFS8	psi-mi:“MI:0914”(association)	0.640
PRG2	YPEL5	psi-mi:“MI:0914”(association)	0.640
CAMKV	AP3B1	psi-mi:“MI:0914”(association)	0.640
OSBPL5	NAGLU	psi-mi:“MI:0914”(association)	0.640
GID8	HTRA2	psi-mi:“MI:0914”(association)	0.610
NAPA	NBAS	psi-mi:“MI:0914”(association)	0.530
INSL6	POTEF	psi-mi:“MI:0914”(association)	0.530
JPH4	ZSWIM8	psi-mi:“MI:0914”(association)	0.530
GPS2	DCTN6	psi-mi:“MI:0914”(association)	0.530
PDGFD	DCTN6	psi-mi:“MI:0914”(association)	0.530
TIGD5	P4HA2	psi-mi:“MI:0914”(association)	0.530
GREM2	ZZEF1	psi-mi:“MI:0914”(association)	0.530
EMILIN3	ZZEF1	psi-mi:“MI:0914”(association)	0.530
PRICKLE3	SIAH2	psi-mi:“MI:0914”(association)	0.530
CBFA2T3	CBFA2T2	psi-mi:“MI:0914”(association)	0.530
BMP1	TLL1	psi-mi:“MI:0914”(association)	0.530
PRG3	ZNF324	psi-mi:“MI:0914”(association)	0.530

BioGRID (235): MAEA (Affinity Capture-MS), MAEA (Affinity Capture-MS), MAEA (Affinity Capture-MS), MAEA (Affinity Capture-MS), MAEA (Affinity Capture-MS), MAEA (Affinity Capture-MS), MAEA (Affinity Capture-MS), MAEA (Affinity Capture-MS), MAEA (Affinity Capture-MS), RANBP9 (Co-fractionation), MAEA (Affinity Capture-MS), MAEA (Affinity Capture-MS), MAEA (Affinity Capture-MS), MAEA (Affinity Capture-MS), MAEA (Affinity Capture-MS)

ESM2 similar proteins: A0A2R8QFQ6, A0A2R8RWN9, A0JN27, D3Z7P3, F1LTR1, O15294, O60907, O89050, O94925, P13264, P56558, P81436, Q07G17, Q13042, Q13888, Q15303, Q27HV0, Q28D01, Q2TBV5, Q3ULA2, Q4R8H1, Q4R9A8, Q4VC33, Q5F398, Q5JUK3, Q5R532, Q5RB35, Q5RKJ1, Q5SP67, Q5SRY7, Q61527, Q62956, Q6GR10, Q6P1K8, Q7L5Y9, Q7RTP6, Q7SXR3, Q8C6G8, Q8CGY8, Q8CJ19

Diamond homologs: A1C9R2, A1CZJ5, A2R9P6, A4RK04, Q0CA25, Q0TYW1, Q1DTI6, Q2H991, Q3MHJ2, Q4R9A8, Q4VC33, Q4WTQ4, Q5AS80, Q5F398, Q5R532, Q5RKJ1, Q6GR10, Q7L5Y9, Q7S2X0, Q7SXR3, Q9M2V9, Q9URU9, Q6C435, Q32L52, E7FGY2, Q6PC55, Q9D7M1, Q9NWU2

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
Ub:E2	“up-regulates activity”	MAEA	ubiquitination

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 198 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
Regulation of pyruvate metabolism	10	41.1×	6e-12

Disease & clinical

Cancer significance

Clinical variants and AI predictions

ClinVar

57 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	42
Likely benign	2
Benign	2

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
979468	GRCh37/hg19 4p16.3-16.2(chr4:68345-5831521)x1	Pathogenic

SpliceAI

2641 predictions. Top by Δscore:

Variant	Effect	Δscore
4:1311975:CCA:C	acceptor_loss	1.0000
4:1311976:CA:C	acceptor_loss	1.0000
4:1311977:A:AG	acceptor_gain	1.0000
4:1311977:A:AT	acceptor_loss	1.0000
4:1311977:AG:A	acceptor_gain	1.0000
4:1311977:AGGT:A	acceptor_gain	1.0000
4:1311978:G:A	acceptor_gain	1.0000
4:1311978:G:GA	acceptor_gain	1.0000
4:1311978:GGT:G	acceptor_gain	1.0000
4:1311978:GGTG:G	acceptor_gain	1.0000
4:1311978:GGTGC:G	acceptor_gain	1.0000
4:1312157:GGAAG:G	donor_gain	1.0000
4:1312158:G:GT	donor_gain	1.0000
4:1312159:A:T	donor_gain	1.0000
4:1312159:AAGG:A	donor_loss	1.0000
4:1312160:AGGT:A	donor_loss	1.0000
4:1312162:G:GA	donor_loss	1.0000
4:1312163:T:A	donor_loss	1.0000
4:1315389:T:TA	acceptor_gain	1.0000
4:1315390:G:A	acceptor_gain	1.0000
4:1315597:CGAGG:C	donor_loss	1.0000
4:1315599:AG:A	donor_loss	1.0000
4:1315600:GG:G	donor_loss	1.0000
4:1315601:G:A	donor_loss	1.0000
4:1315602:T:G	donor_loss	1.0000
4:1322379:A:G	acceptor_gain	1.0000
4:1327622:CTCA:C	acceptor_loss	1.0000
4:1327623:TCA:T	acceptor_loss	1.0000
4:1327624:CAGA:C	acceptor_loss	1.0000
4:1327625:A:AG	acceptor_gain	1.0000

AlphaMissense

2625 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:1311995:T:C	L29P	1.000
4:1312006:T:C	F33L	1.000
4:1312008:T:A	F33L	1.000
4:1312008:T:G	F33L	1.000
4:1312009:C:A	R34S	1.000
4:1312010:G:C	R34P	1.000
4:1312021:A:G	K38E	1.000
4:1312023:G:C	K38N	1.000
4:1312023:G:T	K38N	1.000
4:1312034:G:C	R42P	1.000
4:1315524:G:C	R127P	1.000
4:1315542:T:C	L133P	1.000
4:1315545:T:C	L134P	1.000
4:1315569:C:A	A142D	1.000
4:1322433:T:C	L170P	1.000
4:1322458:C:G	C178W	1.000
4:1322465:T:A	W181R	1.000
4:1322465:T:C	W181R	1.000
4:1322466:G:C	W181S	1.000
4:1322467:G:C	W181C	1.000
4:1322467:G:T	W181C	1.000
4:1322490:T:A	L189H	1.000
4:1322490:T:C	L189P	1.000
4:1327697:C:A	A217D	1.000
4:1336903:T:C	F270L	1.000
4:1336905:C:A	F270L	1.000
4:1336905:C:G	F270L	1.000
4:1336964:T:C	L290P	1.000
4:1336972:G:C	G293R	1.000
4:1336973:G:A	G293D	1.000

dbSNP variants (sampled 300 via entrez): RS1000006042 (4:1336412 G>A), RS1000019708 (4:1327408 C>G,T), RS1000047985 (4:1312418 G>C,T), RS1000099982 (4:1312642 C>A,T), RS1000137395 (4:1303945 T>C,G), RS1000158158 (4:1331451 G>A), RS1000176598 (4:1293019 G>A,T), RS1000259395 (4:1325145 G>A), RS1000314311 (4:1318608 G>A), RS1000324120 (4:1318749 TC>T), RS1000342117 (4:1296462 C>A,G,T), RS1000430723 (4:1320758 C>A,G,T), RS1000482993 (4:1320614 C>T), RS1000523562 (4:1332193 A>C), RS1000653906 (4:1287932 T>C)

Disease associations

OMIM: gene MIM:606801 | 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
GCST001351_1	Type 2 diabetes	2.000000e-20
GCST001762_858	Obesity-related traits	2.000000e-06
GCST002128_3	Type 2 diabetes	2.000000e-07
GCST003400_35	Type 2 diabetes	1.000000e-12
GCST004894_48	Type 2 diabetes	1.000000e-08
GCST006626_39	Pulse pressure	1.000000e-10
GCST007847_14	Type 2 diabetes	1.000000e-24
GCST007847_87	Type 2 diabetes	7.000000e-10
GCST009379_153	Type 2 diabetes	9.000000e-18
GCST010118_34	Type 2 diabetes	3.000000e-16

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0005763	pulse pressure measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

25 total (human), top 25 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Air Pollutants	increases abundance, decreases expression, affects expression	2
Arsenic	affects methylation, decreases expression, increases abundance	2
Valproic Acid	increases expression, affects expression	2
Particulate Matter	decreases expression, increases abundance, increases expression	2
aristolochic acid I	increases expression	1
TAK-243	increases sumoylation	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases methylation	1
methylselenic acid	decreases expression	1
kojic acid	increases expression	1
sodium arsenite	decreases expression, increases abundance	1
ferrous chloride	decreases expression	1
7-(benzylamino)-1,3,4,8-tetrahydropyrrolo(4,3,2-de)quinolin-8(1H)-one	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Asbestos	affects expression	1
Atrazine	decreases expression	1
Benzo(a)pyrene	increases methylation	1
Diuron	affects expression	1
Doxorubicin	decreases expression	1
Ozone	affects expression, increases abundance	1
Plant Extracts	affects cotreatment, increases expression	1
Smoke	decreases expression	1
Aflatoxin B1	increases methylation	1
Cadmium Chloride	increases expression	1
Lactic Acid	decreases expression	1

Cellosaurus cell lines

6 cell lines: 6 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_D1NL	Abcam K-562 MAEA KO	Cancer cell line	Female
CVCL_D2K7	Abcam Raji MAEA KO	Cancer cell line	Male
CVCL_D8PL	Ubigene HCT 116 MAEA KO	Cancer cell line	Male
CVCL_E2BR	HAP1 MAEA (-) 1	Cancer cell line	Male
CVCL_E2BS	HAP1 MAEA (-) 2	Cancer cell line	Male
CVCL_UQ88	Abcam Jurkat MAEA KO	Cancer cell line	Male

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.