GGA2

Summary

GGA2 (golgi associated, gamma adaptin ear containing, ARF binding protein 2, HGNC:16064) is a protein-coding gene on chromosome 16p12.2, encoding ADP-ribosylation factor-binding protein GGA2 (Q9UJY4). Plays a role in protein sorting and trafficking between the trans-Golgi network (TGN) and endosomes.

This gene encodes a member of the Golgi-localized, gamma adaptin ear-containing, ARF-binding (GGA) family. This family includes ubiquitous coat proteins that regulate the trafficking of proteins between the trans-Golgi network and the lysosome. These proteins share an amino-terminal VHS domain which mediates sorting of the mannose 6-phosphate receptors at the trans-Golgi network. They also contain a carboxy-terminal region with homology to the ear domain of gamma-adaptins. This family member may play a significant role in cargo molecules regulation and clathrin-coated vesicle assembly.

Source: NCBI Gene 23062 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 137 total
• MANE Select transcript: NM_015044

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16064
Approved symbol	GGA2
Name	golgi associated, gamma adaptin ear containing, ARF binding protein 2
Location	16p12.2
Locus type	gene with protein product
Status	Approved
Aliases	VEAR, KIAA1080
Ensembl gene	ENSG00000103365
Ensembl biotype	protein_coding
OMIM	606005
Entrez	23062

Gene structure

Transcript identifiers

Ensembl transcripts: 18 — 6 protein_coding, 5 retained_intron, 4 nonsense_mediated_decay, 3 protein_coding_CDS_not_defined

ENST00000309859, ENST00000562117, ENST00000562944, ENST00000563047, ENST00000563494, ENST00000566547, ENST00000566651, ENST00000566685, ENST00000567201, ENST00000567339, ENST00000567468, ENST00000568799, ENST00000568922, ENST00000569182, ENST00000569189, ENST00000569300, ENST00000570111, ENST00000899394

RefSeq mRNA: 1 — MANE Select: NM_015044 NM_015044

CCDS: CCDS10611

Canonical transcript exons

ENST00000309859 — 17 exons

Exon	Start	End
ENSE00000677067	23482923	23483004
ENSE00000829607	23486015	23486152
ENSE00000829613	23474904	23475061
ENSE00000829614	23469996	23470165
ENSE00001187951	23468886	23468996
ENSE00001187989	23480645	23480770
ENSE00001188037	23463542	23467700
ENSE00003485499	23478883	23478911
ENSE00003495136	23510321	23510494
ENSE00003497726	23494303	23494378
ENSE00003523715	23486710	23486790
ENSE00003524831	23491677	23491800
ENSE00003589055	23488606	23488709
ENSE00003591070	23493360	23493458
ENSE00003610257	23478368	23478501
ENSE00003618270	23495694	23495778
ENSE00003671155	23479765	23479887

Expression profiles

Bgee: expression breadth ubiquitous, 293 present calls, max score 98.33.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 53.2955 / max 640.8888, expressed in 1818 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
156777	53.0430	1817
156775	0.2080	81
156776	0.0445	35

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
adrenal tissue	UBERON:0018303	98.33	gold quality
body of pancreas	UBERON:0001150	97.91	gold quality
tendon of biceps brachii	UBERON:0008188	97.77	gold quality
right lobe of thyroid gland	UBERON:0001119	97.33	gold quality
tonsil	UBERON:0002372	97.32	gold quality
left lobe of thyroid gland	UBERON:0001120	96.91	gold quality
lymph node	UBERON:0000029	96.85	gold quality
left ovary	UBERON:0002119	96.76	gold quality
thyroid gland	UBERON:0002046	96.51	gold quality
pancreas	UBERON:0001264	96.46	gold quality
right ovary	UBERON:0002118	96.31	gold quality
right hemisphere of cerebellum	UBERON:0014890	96.27	gold quality
right adrenal gland cortex	UBERON:0035827	96.08	gold quality
islet of Langerhans	UBERON:0000006	96.03	gold quality
cerebellar hemisphere	UBERON:0002245	95.95	gold quality
right uterine tube	UBERON:0001302	95.89	gold quality
vermiform appendix	UBERON:0001154	95.85	gold quality
left adrenal gland	UBERON:0001234	95.80	gold quality
cerebellar cortex	UBERON:0002129	95.80	gold quality
right adrenal gland	UBERON:0001233	95.78	gold quality
adenohypophysis	UBERON:0002196	95.71	gold quality
adrenal gland	UBERON:0002369	95.59	gold quality
left adrenal gland cortex	UBERON:0035825	95.54	gold quality
spleen	UBERON:0002106	95.48	gold quality
right lung	UBERON:0002167	95.45	gold quality
upper lobe of left lung	UBERON:0008952	95.32	gold quality
colonic epithelium	UBERON:0000397	95.19	gold quality
adrenal cortex	UBERON:0001235	95.17	gold quality
granulocyte	CL:0000094	94.92	gold quality
tendon	UBERON:0000043	94.92	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-CURD-122	yes	17.52
E-ANND-3	yes	11.09
E-CURD-88	yes	4.05
E-ENAD-17	no	317.04

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

125 targeting GGA2, 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-8485	100.00	77.57	4731
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-MIR-6888-3P	99.97	65.95	1170
HSA-MIR-3605-5P	99.96	67.12	932
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-3910	99.95	71.13	2227
HSA-MIR-96-5P	99.95	72.80	2140
HSA-MIR-12133	99.92	71.82	2006
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-1271-5P	99.91	71.99	1972
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-205-5P	99.81	70.05	1557
HSA-MIR-4760-5P	99.80	69.88	1619
HSA-MIR-204-5P	99.79	71.62	2439
HSA-MIR-211-5P	99.79	71.65	2440
HSA-MIR-26A-5P	99.78	73.52	2303
HSA-MIR-26B-5P	99.78	73.51	2305
HSA-MIR-3913-5P	99.78	67.26	968
HSA-MIR-1273H-5P	99.77	66.32	2471
HSA-MIR-4319	99.76	69.83	2586
HSA-MIR-6885-3P	99.75	70.36	3187
HSA-MIR-3714	99.71	70.74	2671
HSA-MIR-4465	99.71	72.56	2096
HSA-MIR-30B-3P	99.70	65.76	2325

Literature-anchored findings (GeneRIF, showing 15)

• endocytosis and intracellular transport of memapsin 2, mediated by its cytosolic domain, may involve the binding of GGA1 and GGA2 (PMID:12135764)
• GGA proteins function with the phosphorylated ACDL in the memasin 2-recycling pathway from endosomes to trans Golgi on the way back to the cell surface. (PMID:15615712)
• Results demonstrate that cargo proteins contribute to the recruitment of GGA2 onto membranes and to the formation of GGA-positive clathrin-coated vesicles. (PMID:17451558)
• These results show that the dual roles of PI4P can promote specific GGA targeting and cargo recognition at the trans-Golgi network. (PMID:17494868)
• p56 tightly cooperates with the GGAs in the sorting of cathepsin D to lysosomes, probably by enabling the movement of GGA-containing transport carriers. (PMID:17596511)
• GGA2 is recruited to the trans-Golgi network independently of the other Golgi-localized, gamma-ear-containing, ARF-binding proteins and is required for the efficient sorting of lysosomal enzymes (PMID:18431031)
• GGA overexpression causes various sorting defects as measured by recycling of CD-MPR, internalization of transferrin receptor, and the subcellular localization of proteins like Tsg101, ubiquitin, and Hrs. (PMID:19788741)
• GGA2 mediates a vital function that cannot be compensated for by GGA1and/or GGA3. (PMID:22291915)
• These data indicate that clathrin is required for the function of AP-1- and GGA-coated carriers at the trans-Golgi network but may be dispensable for outward traffic en route to the plasma membrane. (PMID:24407285)
• full length alpha2B-AR associated with GGA2 but not GGA1, its third intracellular loop was found to directly interact with both GGA1 and GGA2. More interestingly, further mapping of interaction domains showed that the GGA1 hinge region and the GGA2 GAE domain bound to multiple subdomains of the loop. (PMID:27901063)
• PI4KIIIbeta interaction with the VHS domain of GGA2 affected PI4KIIIbeta localization. (PMID:28289207)
• Study shows that reduced expression of GGA3 resultes in accumulation of endocytosed EGFR within enlarged endosomes. GGA2 interacts with EGFR cytoplasmic domain to stabilize the receptor expression and promote cell growth. Finally, GGA2 was upregulated in 30.8% of human hepatocellular carcinomas and 23.3% of colorectal cancers. (PMID:29358589)
• Data suggest that overexpression of GGA2 in LUAD tumors results in the accumulation of EGFR protein and increased EGFR signaling, which helps drive tumor progression. (PMID:30578931)
• GGA2 and RAB13 are important specificity determinants for integrin activity-dependent traffic. (PMID:31076515)
• Inactivation of the three GGA genes in HeLa cells partially compromises lysosomal enzyme sorting. (PMID:33206455)

Cross-species orthologs

9 orthologs

Organism	Symbol	Gene ID
mus_musculus	Gga2	ENSMUSG00000030872
rattus_norvegicus	Gga2	ENSRNOG00000018599
drosophila_melanogaster	Stam	FBGN0027363
drosophila_melanogaster	Gga	FBGN0030141
drosophila_melanogaster	Wdfy2	FBGN0032246
drosophila_melanogaster	CG3529	FBGN0035995
caenorhabditis_elegans	stam-1	WBGENE00004109
caenorhabditis_elegans		WBGENE00008402
caenorhabditis_elegans		WBGENE00015561

Paralogs (10): WDFY1 (ENSG00000085449), GGA1 (ENSG00000100083), TOM1 (ENSG00000100284), STAM2 (ENSG00000115145), GGA3 (ENSG00000125447), STAM (ENSG00000136738), WDFY2 (ENSG00000139668), TOM1L1 (ENSG00000141198), TOM1L2 (ENSG00000175662), HGS (ENSG00000185359)

Protein

Protein identifiers

ADP-ribosylation factor-binding protein GGA2 — Q9UJY4 (reviewed: Q9UJY4)

Alternative names: Gamma-adaptin-related protein 2, Golgi-localized, gamma ear-containing, ARF-binding protein 2, VHS domain and ear domain of gamma-adaptin

All UniProt accessions (7): Q9UJY4, H3BMM6, H3BMN6, H3BPF4, H3BPI3, I3L263, I3L2C4

UniProt curated annotations — full annotation on UniProt →

Function. Plays a role in protein sorting and trafficking between the trans-Golgi network (TGN) and endosomes. Mediates the ARF-dependent recruitment of clathrin to the TGN and binds ubiquitinated proteins and membrane cargo molecules with a cytosolic acidic cluster-dileucine (DXXLL) motif. Mediates export of the GPCR receptor ADRA2B to the cell surface. Regulates retrograde transport of phosphorylated form of BACE1 from endosomes to the trans-Golgi network.

Subunit / interactions. Monomer. Interacts with NECAP1, TSG101, UBC and AFTPH/aftiphilin. Interacts with CNST. Interacts with GGA1 and GGA3. Binds to clathrin and activated ARFs, such as ARF1, ARF5 and ARF6. Binds RABEP1 and RABGEF1. Interacts with the type-I membrane proteins LRP3, M6PR/CD-MPR, IGF2R/CI-MPR and BACE1. Interacts (via N-terminal VHS domain) with SORL1/sorLA and SORT1 (via C-terminal cytosolic domain). Binds the accessory proteins CCDC91, P200, SYNRG, EPN4 and NECAP2. Interacts with ADRA2B. Interacts (via VHS domain) with PIK4B; the interaction is important for PIK4B location at the Golgi apparatus membrane.

Subcellular location. Golgi apparatus. trans-Golgi network membrane. Endosome membrane. Early endosome membrane.

Tissue specificity. Ubiquitously expressed.

Post-translational modifications. Ubiquitinated.

Domain organisation. The VHS domain functions as a recognition module for sorting signals composed of an acidic cluster followed by two leucines (DXXLL motif). The GAT domain is responsible for interaction with ARF-GTP, UBC and RABEP1. Required for recruitment to the TGN it prevents ARF-GTP hydrolysis. The unstructured hinge region contains clathrin-binding but no autoinhibitory (DXXLL) motifs. The GAE domain binds accessory proteins regulating GGAs function.

Similarity. Belongs to the GGA protein family.

RefSeq proteins (1): NP_055859* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002014	VHS_dom	Domain
IPR004152	GAT_dom	Domain
IPR008152	Clathrin_a/b/g-adaptin_app_Ig	Domain
IPR008153	GAE_dom	Domain
IPR008942	ENTH_VHS	Homologous_superfamily
IPR013041	Clathrin_app_Ig-like_sf	Homologous_superfamily
IPR027422	GGA1-3	Family
IPR038425	GAT_sf	Homologous_superfamily
IPR041198	GGA_N-GAT	Domain

Pfam: PF00790, PF02883, PF03127, PF18308

UniProt features (20 total): helix 8, domain 3, region of interest 3, chain 1, mutagenesis site 1, sequence conflict 1, compositionally biased region 1, modified residue 1, sequence variant 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
1MHQ	X-RAY DIFFRACTION	2.2

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UJY4-F1	72.68	0.41

Functional residue map

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

Post-translational modifications (1): 400

Mutagenesis-validated functional residues (1):

Position	Phenotype
349–353	partial loss of clathrin-binding.

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-8854214	TBC/RABGAPs
R-HSA-977225	Amyloid fiber formation

MSigDB gene sets: 308 (showing top): WANG_CLIM2_TARGETS_UP, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, MORI_IMMATURE_B_LYMPHOCYTE_UP, KEGG_LYSOSOME, GOBP_VESICLE_MEDIATED_TRANSPORT, REACTOME_MEMBRANE_TRAFFICKING, GOMF_GTPASE_BINDING, GOBP_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY, SHEDDEN_LUNG_CANCER_GOOD_SURVIVAL_A5, GTGCCTT_MIR506, WEI_MYCN_TARGETS_WITH_E_BOX, GOBP_GOLGI_TO_PLASMA_MEMBRANE_TRANSPORT

GO Biological Process (6): intracellular protein transport (GO:0006886), Golgi to plasma membrane transport (GO:0006893), protein localization to cell surface (GO:0034394), Golgi to plasma membrane protein transport (GO:0043001), protein transport (GO:0015031), vesicle-mediated transport (GO:0016192)

GO Molecular Function (4): small GTPase binding (GO:0031267), phosphatidylinositol binding (GO:0035091), ubiquitin binding (GO:0043130), protein binding (GO:0005515)

GO Cellular Component (8): Golgi apparatus (GO:0005794), trans-Golgi network (GO:0005802), endosome membrane (GO:0010008), clathrin-coated vesicle (GO:0030136), early endosome membrane (GO:0031901), endosome (GO:0005768), early endosome (GO:0005769), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Rab regulation of trafficking	1
Metabolism of proteins	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
intracellular protein localization	3
protein transport	2
transport	2
endomembrane system	2
endosome	2
intracellular transport	1
post-Golgi vesicle-mediated transport	1
vesicle-mediated transport to the plasma membrane	1
Golgi to plasma membrane transport	1
establishment of protein localization to plasma membrane	1
protein localization to plasma membrane	1
establishment of protein localization	1
cellular process	1
GTPase binding	1
anion binding	1
ubiquitin-like protein binding	1
binding	1
cytoplasm	1
intracellular membrane-bounded organelle	1
Golgi apparatus subcompartment	1
cytoplasmic vesicle membrane	1
bounding membrane of organelle	1
coated vesicle	1
early endosome	1
endosome membrane	1
cytoplasmic vesicle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1227 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GGA2	M6PR	P20645	889
GGA2	IGF2R	P11717	869
GGA2	CNST	Q6PJW8	819
GGA2	CLINT1	Q14677	798
GGA2	CLTCL1	P53675	790
GGA2	SORT1	Q99523	751
GGA2	CLTC	Q00610	642
GGA2	RABEP1	Q15276	608
GGA2	SYNRG	Q9UMZ2	600
GGA2	ARF1	P10947	567
GGA2	SLCO6A1	Q86UG4	531
GGA2	SORL1	Q92673	504
GGA2	GJC1	P36383	495
GGA2	CDKN2A	P42771	495
GGA2	SLC22A3	O75751	490

IntAct

83 interactions, top by confidence:

A	B	Type	Score
RABEP1	GGA2	psi-mi:“MI:0915”(physical association)	0.820
GGA2	RABEP1	psi-mi:“MI:0915”(physical association)	0.820
GGA2	RABEP1	psi-mi:“MI:0407”(direct interaction)	0.820
SORL1	GGA2	psi-mi:“MI:0915”(physical association)	0.770
GGA2	SORL1	psi-mi:“MI:0915”(physical association)	0.770
GGA2	SORL1	psi-mi:“MI:0407”(direct interaction)	0.770
GGA1	GGA2	psi-mi:“MI:0407”(direct interaction)	0.740
GGA2	GGA1	psi-mi:“MI:0407”(direct interaction)	0.740
GGA1	GGA2	psi-mi:“MI:0403”(colocalization)	0.740
GGA1	GGA2	psi-mi:“MI:0915”(physical association)	0.740
CA8	GGA2	psi-mi:“MI:0915”(physical association)	0.720
GGA2	CA8	psi-mi:“MI:0915”(physical association)	0.720
GGA2	SORT1	psi-mi:“MI:0915”(physical association)	0.700
SORT1	GGA2	psi-mi:“MI:0407”(direct interaction)	0.700
SPG21	GGA2	psi-mi:“MI:0915”(physical association)	0.670
GGA2	SPG21	psi-mi:“MI:0915”(physical association)	0.670

BioGRID (144): RNF11 (Protein-peptide), RNF11 (Reconstituted Complex), ARF1 (Reconstituted Complex), GGA2 (Two-hybrid), TOLLIP (Reconstituted Complex), GGA2 (Biochemical Activity), SPG21 (Two-hybrid), GGA2 (Two-hybrid), GGA2 (Two-hybrid), GGA2 (Two-hybrid), GGA2 (Affinity Capture-MS), GGA2 (Affinity Capture-Western), GGA2 (Two-hybrid), GGA1 (Affinity Capture-MS), RABEP1 (Affinity Capture-MS)

ESM2 similar proteins: A0A0G2JV04, B0V207, D3Z8X7, D3ZFJ3, D3ZND0, F1LM81, G9CGD6, O00499, O08539, O08839, O12940, O60308, O60784, O75674, O88746, P42567, P55194, Q05DH4, Q0GNC1, Q0IHV1, Q27J81, Q3B7M3, Q3UN70, Q4KLN4, Q505K2, Q5FVK6, Q5T0F9, Q5U3K5, Q66HA5, Q68EF0, Q6P1N0, Q6P5E6, Q6P9Q4, Q6P9Q6, Q80V31, Q80V94, Q8BMI3, Q8BRN9, Q8K1A6, Q8R0H9

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, A0JNJ1, A6QLK6, A7A261, E9Q634, O13154, O35179, O35180, O35964, O42287, O75791, O88811, O89100, O97902

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 44 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
Golgi Associated Vesicle Biogenesis	5	35.8×	5e-05

GO biological processes:

GO term	Partners	Fold	FDR
receptor-mediated endocytosis	5	29.2×	2e-04
intracellular protein transport	7	11.9×	3e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	105
Likely benign	7
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2940 predictions. Top by Δscore:

Variant	Effect	Δscore
16:23468884:A:AC	donor_gain	1.0000
16:23468885:C:CC	donor_gain	1.0000
16:23468993:TTGA:T	acceptor_gain	1.0000
16:23468997:C:CC	acceptor_gain	1.0000
16:23469001:C:CT	acceptor_gain	1.0000
16:23469991:CTCA:C	donor_loss	1.0000
16:23469992:TCA:T	donor_loss	1.0000
16:23469993:CA:C	donor_loss	1.0000
16:23469994:A:AG	donor_loss	1.0000
16:23470162:CTGC:C	acceptor_gain	1.0000
16:23470166:C:CC	acceptor_gain	1.0000
16:23470169:G:C	acceptor_gain	1.0000
16:23470169:G:GC	acceptor_gain	1.0000
16:23478366:A:AC	donor_gain	1.0000
16:23478367:C:CC	donor_gain	1.0000
16:23479763:A:AC	donor_gain	1.0000
16:23479764:C:CC	donor_gain	1.0000
16:23479779:T:TA	donor_gain	1.0000
16:23479885:AGA:A	acceptor_gain	1.0000
16:23479888:C:CC	acceptor_gain	1.0000
16:23480766:TTCCG:T	acceptor_gain	1.0000
16:23482918:CTTA:C	donor_loss	1.0000
16:23482919:TTACC:T	donor_loss	1.0000
16:23482920:TAC:T	donor_loss	1.0000
16:23482921:A:AC	donor_gain	1.0000
16:23482921:AC:A	donor_gain	1.0000
16:23482921:ACCG:A	donor_loss	1.0000
16:23482922:C:CA	donor_gain	1.0000
16:23482922:CC:C	donor_gain	1.0000
16:23482922:CCG:C	donor_gain	1.0000

AlphaMissense

3998 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:23467675:A:G	L586P	0.999
16:23491740:A:G	W138R	0.999
16:23491740:A:T	W138R	0.999
16:23493399:A:C	F104L	0.999
16:23493399:A:T	F104L	0.999
16:23493401:A:G	F104L	0.999
16:23491688:A:G	L155P	0.998
16:23493393:G:C	F106L	0.998
16:23493393:G:T	F106L	0.998
16:23493394:A:G	F106S	0.998
16:23493395:A:G	F106L	0.998
16:23486777:A:G	L198P	0.997
16:23491698:A:C	Y152D	0.997
16:23493375:T:A	K112N	0.997
16:23493375:T:G	K112N	0.997
16:23493382:A:G	L110P	0.997
16:23493391:A:G	L107P	0.997
16:23493454:A:G	L86P	0.997
16:23494320:C:G	A79P	0.997
16:23480743:A:G	L303P	0.996
16:23494310:G:T	A82D	0.996
16:23494345:C:A	K70N	0.996
16:23494345:C:G	K70N	0.996
16:23494355:A:C	L67R	0.996
16:23494355:A:G	L67P	0.996
16:23467682:A:C	Y584D	0.995
16:23468908:A:G	L570P	0.995
16:23486729:A:G	I214T	0.995
16:23491688:A:T	L155Q	0.995
16:23493376:T:A	K112I	0.995

dbSNP variants (sampled 300 via entrez): RS1000000592 (16:23498618 G>A), RS1000052242 (16:23510554 C>A), RS1000073036 (16:23489797 G>T), RS1000209509 (16:23463554 GTTTTA>G), RS1000210905 (16:23507182 C>T), RS1000241034 (16:23476840 C>T), RS1000279377 (16:23495303 C>T), RS1000293426 (16:23477108 C>T), RS1000452107 (16:23515163 T>A,C), RS1000486913 (16:23470695 G>A,C), RS1000505918 (16:23515688 T>A,C), RS1000533158 (16:23482567 G>A,C), RS1000540559 (16:23464590 G>A,T), RS1000656656 (16:23464878 G>A), RS1000684659 (16:23522399 C>T)

Disease associations

OMIM: gene MIM:606005 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

28 total (human), top 28 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression, affects expression	4
trichostatin A	affects cotreatment, decreases expression	3
bisphenol A	affects expression, increases expression	2
Benzo(a)pyrene	decreases expression, increases expression	2
GSK-J4	increases expression	1
mono-(2-ethylhexyl)phthalate	decreases methylation, increases abundance	1
afimoxifene	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
N,N,N’,N’-tetrakis(2-pyridylmethyl)ethylenediamine	decreases expression	1
perfluorooctane sulfonic acid	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
ICG 001	decreases expression	1
ON 01910	increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Arsenicals	increases methylation	1
Benzene	increases expression	1
Caffeine	decreases phosphorylation	1
Carbamazepine	affects expression	1
Coumestrol	increases expression	1
Diethylhexyl Phthalate	decreases methylation, increases abundance	1
Plant Extracts	affects cotreatment, increases expression	1
Potassium Dichromate	increases expression	1
Rotenone	decreases expression	1
Smoke	decreases expression	1
Thiram	decreases expression	1
Cadmium Chloride	decreases expression	1

Cellosaurus cell lines

4 cell lines: 4 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_AR70	HeLa-Mitotrap-GGA2-FKBP	Cancer cell line	Female
CVCL_F1B7	HeLa GGA2-/-	Cancer cell line	Female
CVCL_F1B9	HeLa GGA23-/-	Cancer cell line	Female
CVCL_F1BA	HeLa GGA123-/-	Cancer cell line	Female

Clinical trials (associated diseases)

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