AP1G2

Summary

AP1G2 (adaptor related protein complex 1 subunit gamma 2, HGNC:556) is a protein-coding gene on chromosome 14q11.2, encoding AP-1 complex subunit gamma-like 2 (O75843). May function in protein sorting in late endosomes or multivesucular bodies (MVBs).

Adaptins are important components of clathrin-coated vesicles transporting ligand-receptor complexes from the plasma membrane or from the trans-Golgi network to lysosomes. The adaptin family of proteins is composed of four classes of molecules named alpha, beta-, beta prime- and gamma- adaptins. Adaptins, together with medium and small subunits, form a heterotetrameric complex called an adaptor, whose role is to promote the formation of clathrin-coated pits and vesicles. The protein encoded by this gene is a gamma-adaptin protein and it belongs to the adaptor complexes large subunits family. This protein along with the complex is thought to function at some trafficking step in the complex pathways between the trans-Golgi network and the cell surface.

Source: NCBI Gene 8906 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 157 total — 1 likely-pathogenic
• MANE Select transcript: NM_003917

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:556
Approved symbol	AP1G2
Name	adaptor related protein complex 1 subunit gamma 2
Location	14q11.2
Locus type	gene with protein product
Status	Approved
Aliases	G2AD
Ensembl gene	ENSG00000213983
Ensembl biotype	protein_coding
OMIM	603534
Entrez	8906

Gene structure

Transcript identifiers

Ensembl transcripts: 60 — 31 protein_coding, 23 retained_intron, 3 nonsense_mediated_decay, 3 protein_coding_CDS_not_defined

ENST00000308724, ENST00000397120, ENST00000460049, ENST00000465445, ENST00000535852, ENST00000553629, ENST00000553685, ENST00000553756, ENST00000554069, ENST00000554312, ENST00000554477, ENST00000554554, ENST00000554816, ENST00000554892, ENST00000554977, ENST00000554982, ENST00000555118, ENST00000555510, ENST00000555789, ENST00000555896, ENST00000555974, ENST00000556152, ENST00000556277, ENST00000556741, ENST00000556743, ENST00000556843, ENST00000556943, ENST00000556966, ENST00000557132, ENST00000557162, ENST00000557189, ENST00000557391, ENST00000557482, ENST00000557619, ENST00000888306, ENST00000888307, ENST00000888308, ENST00000888309, ENST00000888310, ENST00000888311, ENST00000888312, ENST00000888313, ENST00000888314, ENST00000888315, ENST00000888316, ENST00000888317, ENST00000888318, ENST00000888319, ENST00000912333, ENST00000912334, ENST00000912335, ENST00000912336, ENST00000912337, ENST00000912338, ENST00000912339, ENST00000912340, ENST00000912341, ENST00000941281, ENST00000941282, ENST00000941283

RefSeq mRNA: 8 — MANE Select: NM_003917 NM_001282474, NM_001282475, NM_001354673, NM_001354674, NM_001354675, NM_001354677, NM_001354681, NM_003917

CCDS: CCDS9602

Canonical transcript exons

ENST00000397120 — 22 exons

Exon	Start	End
ENSE00002488407	23567739	23567791
ENSE00003460029	23562288	23562415
ENSE00003465437	23562504	23562593
ENSE00003483848	23566064	23566160
ENSE00003499685	23560255	23560418
ENSE00003502754	23565606	23565701
ENSE00003522704	23564046	23564159
ENSE00003527193	23561962	23562066
ENSE00003539800	23567111	23567319
ENSE00003545373	23563380	23563502
ENSE00003549019	23563716	23563856
ENSE00003554714	23565119	23565199
ENSE00003572661	23565816	23565892
ENSE00003583660	23564562	23564660
ENSE00003599155	23559567	23559850
ENSE00003600326	23559938	23560036
ENSE00003608014	23561296	23561431
ENSE00003626531	23566562	23566686
ENSE00003646674	23563584	23563638
ENSE00003659132	23564333	23564388
ENSE00003668286	23566278	23566419
ENSE00003670253	23561512	23561635

Expression profiles

Bgee: expression breadth ubiquitous, 270 present calls, max score 99.27.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.5833 / max 187.9243, expressed in 1641 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
142489	10.4166	1594
142488	1.0277	618
142490	0.1390	60

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right hemisphere of cerebellum	UBERON:0014890	99.27	gold quality
cerebellar hemisphere	UBERON:0002245	99.13	gold quality
cerebellar cortex	UBERON:0002129	99.06	gold quality
granulocyte	CL:0000094	98.78	gold quality
adenohypophysis	UBERON:0002196	98.78	gold quality
pituitary gland	UBERON:0000007	98.61	gold quality
right uterine tube	UBERON:0001302	98.61	gold quality
right lobe of thyroid gland	UBERON:0001119	98.14	gold quality
left lobe of thyroid gland	UBERON:0001120	98.13	gold quality
cerebellum	UBERON:0002037	98.13	gold quality
lower esophagus mucosa	UBERON:0035834	98.07	gold quality
metanephros cortex	UBERON:0010533	98.04	gold quality
right frontal lobe	UBERON:0002810	97.95	gold quality
left ovary	UBERON:0002119	97.89	gold quality
right ovary	UBERON:0002118	97.82	gold quality
mucosa of transverse colon	UBERON:0004991	97.76	gold quality
minor salivary gland	UBERON:0001830	97.67	gold quality
body of pancreas	UBERON:0001150	97.63	gold quality
skin of abdomen	UBERON:0001416	97.49	gold quality
spleen	UBERON:0002106	97.48	gold quality
skin of leg	UBERON:0001511	97.41	gold quality
small intestine Peyer’s patch	UBERON:0003454	97.41	gold quality
thyroid gland	UBERON:0002046	97.17	gold quality
putamen	UBERON:0001874	97.04	gold quality
nucleus accumbens	UBERON:0001882	96.95	gold quality
lymph node	UBERON:0000029	96.88	gold quality
esophagus mucosa	UBERON:0002469	96.68	gold quality
caudate nucleus	UBERON:0001873	96.65	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	96.64	gold quality
mouth mucosa	UBERON:0003729	96.61	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

14 targeting AP1G2, 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-3913-5P	99.78	67.26	968
HSA-MIR-3122	99.50	66.33	821
HSA-MIR-6513-5P	99.43	67.81	1071
HSA-MIR-7974	99.24	65.48	1137
HSA-MIR-4687-5P	99.14	66.26	488
HSA-MIR-1233-5P	98.19	66.71	1201
HSA-MIR-6778-5P	98.19	66.59	1239
HSA-MIR-4768-3P	98.16	66.02	2330
HSA-MIR-3155A	98.16	66.09	965
HSA-MIR-3155B	98.16	66.09	965
HSA-MIR-1302	97.92	67.27	844
HSA-MIR-4298	97.26	66.59	765
HSA-MIR-27A-5P	97.01	65.63	528
HSA-MIR-1587	96.95	64.03	932

Literature-anchored findings (GeneRIF, showing 4)

• These results demonstrate that HBV exploits the multivesicular bodies machinery with the aid of gamma 2-adaptin. (PMID:17553870)
• gamma2-adaptin’s ubiquitin-interacting motif mediates a specific physical interaction with the ubiquitin ligase Nedd4 and promotes ubiquitination of gamma2-adaptin (PMID:18772139)
• Data show that gamma2-adaptin in MVB sorting specifically interacts with the ESCRT subunits Vps28 and CHMP2A. (PMID:20708039)
• Depletion of the gamma2 or mu1A (AP1M1) subunits of AP-1, but not of gamma1 (AP1G1), precludes Nef-mediated lysosomal degradation of CD4. (PMID:27909244)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	ap1g2	ENSDARG00000054337
mus_musculus	Ap1g2	ENSMUSG00000040701
rattus_norvegicus	Jph4	ENSRNOG00000025589
drosophila_melanogaster	AP-1gamma	FBGN0030089
caenorhabditis_elegans	apg-1	WBGENE00000158

Paralogs (4): AP4E1 (ENSG00000081014), AP1G1 (ENSG00000166747), AP2A2 (ENSG00000183020), AP2A1 (ENSG00000196961)

Protein

Protein identifiers

AP-1 complex subunit gamma-like 2 — O75843 (reviewed: O75843)

Alternative names: Gamma2-adaptin

All UniProt accessions (6): O75843, G3V2V9, G3V3Z2, G3V532, H0YJ08, H0YJ47

UniProt curated annotations — full annotation on UniProt →

Function. May function in protein sorting in late endosomes or multivesucular bodies (MVBs). (Microbial infection) Involved in MVB-assisted maturation of hepatitis B virus (HBV).

Subunit / interactions. May interact with AP1S1/Sigma1A-adaptin and AP1S2/Sigma1B-adaptin. Probably does not interact with APB1. Interacts (via GAE domain) with RABEP1, NECAP1, CLINT1 and AFTPH/aftiphilin. (Microbial infection) Interacts with HBV major surface antigen L. Interacts with HBV core protein C in a ubiquitin-dependent manner.

Subcellular location. Golgi apparatus membrane. Cytoplasmic vesicle membrane. Endosome membrane.

Tissue specificity. Expressed in all but one (skeletal muscle) tissues examined.

Similarity. Belongs to the adaptor complexes large subunit family.

RefSeq proteins (8): NP_001269403, NP_001269404, NP_001341602, NP_001341603, NP_001341604, NP_001341606, NP_001341610, NP_003908* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002553	Clathrin/coatomer_adapt-like_N	Domain
IPR008152	Clathrin_a/b/g-adaptin_app_Ig	Domain
IPR008153	GAE_dom	Domain
IPR011989	ARM-like	Homologous_superfamily
IPR013041	Clathrin_app_Ig-like_sf	Homologous_superfamily
IPR016024	ARM-type_fold	Homologous_superfamily
IPR017107	AP1_complex_gsu	Family
IPR050840	Adaptor_Complx_Large_Subunit	Family

Pfam: PF01602, PF02883

UniProt features (27 total): strand 10, sequence conflict 6, mutagenesis site 4, region of interest 2, chain 1, domain 1, turn 1, helix 1, sequence variant 1

Structure

Experimental structures (PDB)

4 structures.

PDB	Method	Resolution (Å)
3ZHF	X-RAY DIFFRACTION	1.7
2YMT	X-RAY DIFFRACTION	1.8
4BCX	X-RAY DIFFRACTION	2
2E9G	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O75843-F1	84.13	0.56

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Mutagenesis-validated functional residues (4):

Position	Phenotype
369	greatly diminishes interaction with ubiquitin; when associated with g-372.
372	greatly diminishes interaction with ubiquitin; when associated with g-369.
372	greatly diminishes interaction with ubiquitin; when associated with g-376.
376	greatly diminishes interaction with ubiquitin; when associated with g-372.

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-432720	Lysosome Vesicle Biogenesis
R-HSA-199991	Membrane Trafficking
R-HSA-199992	trans-Golgi Network Vesicle Budding
R-HSA-5653656	Vesicle-mediated transport

MSigDB gene sets: 233 (showing top): CREL_01, FREAC2_01, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, JAEGER_METASTASIS_DN, ENK_UV_RESPONSE_KERATINOCYTE_UP, GOBP_VACUOLAR_TRANSPORT, LINDGREN_BLADDER_CANCER_CLUSTER_3_DN, TGACCTY_ERR1_Q2, GOBP_VESICLE_MEDIATED_TRANSPORT, FOXO4_01, REACTOME_MEMBRANE_TRAFFICKING, TCF4_Q5, ONKEN_UVEAL_MELANOMA_UP, AML_Q6, MODULE_285

GO Biological Process (4): intracellular protein transport (GO:0006886), Golgi to vacuole transport (GO:0006896), vesicle-mediated transport (GO:0016192), protein transport (GO:0015031)

GO Molecular Function (2): clathrin-cargo adaptor activity (GO:0035615), protein binding (GO:0005515)

GO Cellular Component (15): Golgi membrane (GO:0000139), Golgi apparatus (GO:0005794), Golgi-associated vesicle (GO:0005798), endosome membrane (GO:0010008), membrane (GO:0016020), AP-1 adaptor complex (GO:0030121), transport vesicle (GO:0030133), synapse (GO:0045202), cytoplasm (GO:0005737), endosome (GO:0005768), endomembrane system (GO:0012505), membrane coat (GO:0030117), cytoplasmic vesicle membrane (GO:0030659), cytoplasmic vesicle (GO:0031410), intracellular vesicle (GO:0097708)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
trans-Golgi Network Vesicle Budding	1
Vesicle-mediated transport	1
Membrane Trafficking	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoplasmic vesicle	4
cytoplasm	3
endomembrane system	3
cellular anatomical structure	3
intracellular protein localization	2
transport	2
bounding membrane of organelle	2
intracellular membrane-bounded organelle	2
intracellular anatomical structure	2
protein transport	1
intracellular transport	1
post-Golgi vesicle-mediated transport	1
vacuolar transport	1
intercellular transport	1
cellular process	1
establishment of protein localization	1
clathrin binding	1
cargo adaptor activity	1
binding	1
Golgi apparatus	1
endosome	1
cytoplasmic vesicle membrane	1
clathrin coat of trans-Golgi network vesicle	1
clathrin adaptor complex	1
cell junction	1
vacuole	1
plasma membrane	1
coated membrane	1
membrane protein complex	1
vesicle membrane	1
intracellular vesicle	1
vesicle	1

Protein interactions and networks

STRING

1172 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
AP1G2	AP1S2	P56377	939
AP1G2	AP1S1	P61966	890
AP1G2	AP1B1	P78436	809
AP1G2	NEDD4	P46934	791
AP1G2	GOLPH3	Q9H4A6	788
AP1G2	AP1M1	Q9BXS5	777
AP1G2	CSNK2A2	P19784	752
AP1G2	SYNRG	Q9UMZ2	674
AP1G2	CSNK2A1	P19138	653
AP1G2	SUPT16H	Q9Y5B9	638
AP1G2	SSRP1	Q08945	634
AP1G2	AP1M2	Q9Y6Q5	604
AP1G2	AFTPH	Q6ULP2	546
AP1G2	CPNE1	Q99829	502
AP1G2	STXBP2	Q15833	494

IntAct

76 interactions, top by confidence:

A	B	Type	Score
AP1S2	AP1G1	psi-mi:“MI:0914”(association)	0.670
AP1S2	AP1G1	psi-mi:“MI:0914”(association)	0.660
AP1G2	S	psi-mi:“MI:0407”(direct interaction)	0.620
UPK3B	AP1G2	psi-mi:“MI:0914”(association)	0.560
AP1G2	UPK3B	psi-mi:“MI:0915”(physical association)	0.560
AAGAB	STXBP3	psi-mi:“MI:0914”(association)	0.530
THBS2	AP1G2	psi-mi:“MI:0914”(association)	0.530
EGFR	NDUFA4	psi-mi:“MI:0914”(association)	0.530
IL27RA	B4GALT5	psi-mi:“MI:0914”(association)	0.530
ZNRD2	MYO9A	psi-mi:“MI:0914”(association)	0.530
IL27RA	AP1G2	psi-mi:“MI:0914”(association)	0.530
DNAJC3	DEDD	psi-mi:“MI:0914”(association)	0.530
HLA-DRA	ENTPD6	psi-mi:“MI:0914”(association)	0.530
SLC1A5	GPR89A	psi-mi:“MI:0914”(association)	0.530
RABEP1	AP1G2	psi-mi:“MI:0915”(physical association)	0.510
AP1G2	RABEP1	psi-mi:“MI:0915”(physical association)	0.510
AP1G2	RABGEF1	psi-mi:“MI:0915”(physical association)	0.400
AP1G2	UBE2Z	psi-mi:“MI:0915”(physical association)	0.370
AP1G2	Ap1s1	psi-mi:“MI:0915”(physical association)	0.370
AP1G2	Ap1s2	psi-mi:“MI:0915”(physical association)	0.370
AP1G2	KDM1A	psi-mi:“MI:0915”(physical association)	0.370
AP1G2	PRMT6	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (105): CENPK (Two-hybrid), AP1G2 (Affinity Capture-MS), AP1G2 (Affinity Capture-MS), AP1G2 (Affinity Capture-MS), AP1G2 (Affinity Capture-MS), AP1G2 (Co-fractionation), AP1G2 (Two-hybrid), AP1G2 (Affinity Capture-MS), AP1G2 (Affinity Capture-MS), AP1G2 (Affinity Capture-MS), AP1G2 (Affinity Capture-MS), SYNRG (Affinity Capture-MS), RBM14-RBM4 (Affinity Capture-MS), AP1G2 (Affinity Capture-MS), AP1G2 (Affinity Capture-MS)

ESM2 similar proteins: A0A5F8AH41, A0AVI4, A7S641, O75843, P10937, P25235, P40935, P70345, Q06AU9, Q08DJ7, Q08DK0, Q0IJ33, Q14AI0, Q28647, Q28CM7, Q3V3N7, Q4R7D0, Q503C8, Q5FVF4, Q5R5N9, Q5RDY9, Q5XIL6, Q5ZI25, Q68F70, Q6IR55, Q6NWH5, Q6PD82, Q74ZJ1, Q7KNA0, Q7QIL2, Q80YU0, Q8CHY3, Q8CIM8, Q8IV36, Q8K304, Q8MRQ4, Q8NFJ9, Q8R1F6, Q8R307, Q8WW52

Diamond homologs: A0A0G2JV04, A3LXQ8, F4KAU9, O01498, O14964, O43747, O60784, O75843, O75886, O88512, O88746, O93436, P22892, P70297, Q0V8S0, Q5R5M2, Q68FJ8, Q6P5E6, Q8BMI3, Q8R0H9, Q92783, Q960X8, Q99LI8, Q9JJ50, Q9NZ52, Q9UJY4, Q9UJY5, O95782, P17426, Q12028, Q84K16, Q8I8U2, Q8LPK4, Q8LPL6, Q99128, Q9UU81, Q9ZUI6, O94973, P17427, P18484

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
NEDD4	“up-regulates activity”	AP1G2	monoubiquitination
NEDD4	“up-regulates activity”	AP1G2	polyubiquitination
AP1G2	“up-regulates activity”	NEDD4	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 79 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
Nef-mediates down modulation of cell surface receptors by recruiting them to clathrin adapters	7	92.5×	6e-11
The role of Nef in HIV-1 replication and disease pathogenesis	7	92.5×	6e-11
Host Interactions of HIV factors	7	49.0×	7e-09
Lysosome Vesicle Biogenesis	5	34.0×	1e-05
trans-Golgi Network Vesicle Budding	6	31.7×	2e-06
Golgi Associated Vesicle Biogenesis	5	20.9×	9e-05
HIV Infection	7	17.4×	5e-06
MHC class II antigen presentation	8	14.9×	2e-06

GO biological processes:

GO term	Partners	Fold	FDR
melanosome assembly	5	68.2×	5e-06
platelet dense granule organization	5	51.9×	8e-06
vesicle-mediated transport	9	13.3×	7e-06
intracellular protein transport	9	9.0×	8e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	124
Likely benign	8
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
916555	NM_003917.5(AP1G2):c.464G>A (p.Arg155His)	Likely pathogenic

SpliceAI

4002 predictions. Top by Δscore:

Variant	Effect	Δscore
14:23559846:GGGGC:G	acceptor_gain	1.0000
14:23559847:GGGC:G	acceptor_gain	1.0000
14:23559848:GGC:G	acceptor_gain	1.0000
14:23559849:GC:G	acceptor_gain	1.0000
14:23559849:GCCTA:G	acceptor_loss	1.0000
14:23559850:CC:C	acceptor_gain	1.0000
14:23559851:C:CC	acceptor_gain	1.0000
14:23559857:A:AC	acceptor_gain	1.0000
14:23559932:GCTCA:G	donor_loss	1.0000
14:23559933:CTCA:C	donor_loss	1.0000
14:23559934:TCA:T	donor_loss	1.0000
14:23559935:CAC:C	donor_loss	1.0000
14:23559936:ACCTT:A	donor_loss	1.0000
14:23559937:C:A	donor_loss	1.0000
14:23560251:AAACC:A	donor_loss	1.0000
14:23560252:AACCT:A	donor_loss	1.0000
14:23560254:C:CG	donor_loss	1.0000
14:23560414:GGGAG:G	acceptor_gain	1.0000
14:23560415:GGAG:G	acceptor_gain	1.0000
14:23560416:GAG:G	acceptor_gain	1.0000
14:23560417:AG:A	acceptor_gain	1.0000
14:23560418:GC:G	acceptor_loss	1.0000
14:23560419:C:CC	acceptor_gain	1.0000
14:23560424:G:GC	acceptor_gain	1.0000
14:23561290:GCTTA:G	donor_loss	1.0000
14:23561295:C:CA	donor_loss	1.0000
14:23561428:AGGC:A	acceptor_gain	1.0000
14:23561437:A:T	acceptor_gain	1.0000
14:23561508:TCAC:T	donor_loss	1.0000
14:23561509:CA:C	donor_loss	1.0000

AlphaMissense

5066 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:23566634:C:T	G86D	0.998
14:23567117:A:C	F66L	0.998
14:23567117:A:T	F66L	0.998
14:23567119:A:G	F66L	0.998
14:23566625:C:T	G89E	0.997
14:23566626:C:A	G89W	0.997
14:23567154:A:G	L54P	0.997
14:23566626:C:G	G89R	0.996
14:23566626:C:T	G89R	0.996
14:23566635:C:G	G86R	0.996
14:23566642:C:A	K83N	0.996
14:23566642:C:G	K83N	0.996
14:23567115:C:T	G67E	0.996
14:23566381:G:T	A123D	0.995
14:23566414:A:G	L112P	0.995
14:23566613:A:G	L93P	0.995
14:23566678:G:C	C71W	0.995
14:23567241:C:G	R25P	0.995
14:23562005:C:G	A564P	0.994
14:23566622:G:T	A90D	0.994
14:23566680:A:G	C71R	0.994
14:23567118:A:C	F66C	0.994
14:23567283:A:G	L11P	0.994
14:23566623:C:G	A90P	0.993
14:23566628:A:G	L88P	0.992
14:23566644:T:C	K83E	0.992
14:23566670:A:G	L74P	0.992
14:23567133:C:A	G61V	0.992
14:23567149:A:C	Y56D	0.992
14:23567151:A:G	L55P	0.992

dbSNP variants (sampled 300 via entrez): RS1000020209 (14:23562724 G>A,C), RS1000021465 (14:23563336 G>T), RS1000130078 (14:23569116 C>A,T), RS1000175614 (14:23569344 G>A), RS1000255769 (14:23569757 A>G,T), RS1000310383 (14:23568726 C>A), RS1000478010 (14:23562893 C>A,T), RS1001303250 (14:23569495 CAAAG>C), RS1001432768 (14:23563269 T>G), RS1002394623 (14:23569181 C>A), RS1002910558 (14:23564245 G>A,C), RS1003067131 (14:23567521 C>T), RS1003140704 (14:23567735 T>C), RS1003308339 (14:23559561 C>G,T), RS1003363203 (14:23565994 G>A,T)

Disease associations

OMIM: gene MIM:603534 | disease phenotypes: MIM:189960

GenCC curated gene-disease

Mondo (1): esophageal atresia/tracheoesophageal fistula (MONDO:0008586)

Orphanet (1): Esophageal atresia (Orphanet:1199)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST001099_27	Sudden cardiac arrest	6.000000e-08
GCST006585_251	Blood protein levels	1.000000e-14

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004278	sudden cardiac arrest

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C531835	Esophageal atresia with or without tracheoesophageal fistula (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

42 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases abundance, increases expression	2
(+)-JQ1 compound	affects expression, increases expression	2
Air Pollutants	affects cotreatment, increases abundance, increases oxidation, increases expression	2
Smoke	decreases expression, increases abundance, increases expression	2
Tobacco Smoke Pollution	decreases expression, decreases methylation	2
Valproic Acid	decreases expression, increases methylation, affects expression	2
2,4,6-tribromophenol	decreases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
bisphenol A	decreases expression	1
glycidyl methacrylate	increases expression	1
potassium perchlorate	decreases expression	1
decabromobiphenyl ether	decreases expression	1
beta-lapachone	decreases expression	1
tetrabromobisphenol A	decreases expression	1
perfluorooctanoic acid	decreases expression	1
methacrylaldehyde	affects cotreatment, increases oxidation, increases abundance	1
perfluorooctane sulfonic acid	decreases expression	1
mono(2-ethyl-5-oxohexyl)phthalate	affects expression	1
CGP 52608	affects binding, increases reaction	1
perfluoro-n-nonanoic acid	decreases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
pentabrominated diphenyl ether 100	decreases expression	1
hexabrominated diphenyl ether 153	increases expression	1
jinfukang	increases expression, affects cotreatment	1
bis-N,N-dimethylamino-2-(N-methylpyrrolyl)methyl cyclopentadienyl titanium (IV)	increases expression	1
Temozolomide	increases expression	1
Sunitinib	increases expression	1
Acetaminophen	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_SC71	HAP1 AP1G2 (-)	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT03792360	PHASE1	WITHDRAWN	Adipose Derived SVF for Aero-digestive & Enterocutaneous Fistulae
NCT02033772	Not specified	COMPLETED	Prospective Data Collection of Patients < 6 Months of Age Undergoing Thoracoscopic Surgery
NCT02364843	Not specified	TERMINATED	A Physiological Study to Determine the Enteral Threonine Requirements in Infants Aged 1 to 6 Months
NCT03455881	Not specified	UNKNOWN	Phenotypic and Genetic Assessment of Tracheal and Esophageal Birth Defects in Patients
NCT03730454	Not specified	ACTIVE_NOT_RECRUITING	Transanastomotic Tube for Proximal Esophageal Atresia With Distal Tracheoesophageal Fistula Repair