ABCG4

Summary

ABCG4 (ATP binding cassette subfamily G member 4, HGNC:13884) is a protein-coding gene on chromosome 11q23.3, encoding ATP-binding cassette sub-family G member 4 (Q9H172). ATP-dependent transporter of the ATP-binding cassette (ABC) family that may be involved in the cellular efflux of sterols, in particular cholesterol and desmosterol (a cholesterol precursor), to high-density lipoprotein (HDL).

The protein encoded by this gene is a member of the ATP-binding cassette (ABC) transporter superfamily. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). The encoded protein is a member of the White subfamily and plays an important role in cellular cholesterol homeostasis. This protein functions as either a homodimer or as a heterodimer with another ABC subfamily protein such as ABCG1.

Source: NCBI Gene 64137 — RefSeq curated summary.

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 84 total — 10 pathogenic
• MANE Select transcript: NM_022169

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:13884
Approved symbol	ABCG4
Name	ATP binding cassette subfamily G member 4
Location	11q23.3
Locus type	gene with protein product
Status	Approved
Aliases	WHITE2
Ensembl gene	ENSG00000172350
Ensembl biotype	protein_coding
OMIM	607784
Entrez	64137

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 6 protein_coding, 2 retained_intron

ENST00000524604, ENST00000533694, ENST00000534402, ENST00000615496, ENST00000619701, ENST00000622721, ENST00000912114, ENST00000912115

RefSeq mRNA: 4 — MANE Select: NM_022169 NM_001142505, NM_001348191, NM_001348192, NM_022169

CCDS: CCDS8415

Canonical transcript exons

ENST00000619701 — 15 exons

Exon	Start	End
ENSE00001251316	119154026	119154143
ENSE00001251330	119149954	119150203
ENSE00003588165	119156872	119157014
ENSE00003715592	119154260	119154392
ENSE00003717826	119158234	119158332
ENSE00003724314	119160227	119160385
ENSE00003728178	119158829	119158929
ENSE00003729379	119154525	119154575
ENSE00003730256	119154770	119154915
ENSE00003734604	119160538	119160656
ENSE00003738908	119156329	119156452
ENSE00003739854	119156564	119156678
ENSE00003745547	119158557	119158725
ENSE00003745641	119149052	119149363
ENSE00003753110	119160881	119162653

Expression profiles

Bgee: expression breadth ubiquitous, 178 present calls, max score 88.71.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.4466 / max 40.7858, expressed in 130 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
117097	0.3195	114
117098	0.1271	62

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right hemisphere of cerebellum	UBERON:0014890	88.71	gold quality
cerebellar hemisphere	UBERON:0002245	88.00	gold quality
cerebellar cortex	UBERON:0002129	87.92	gold quality
cerebellum	UBERON:0002037	87.01	gold quality
right frontal lobe	UBERON:0002810	80.97	gold quality
prefrontal cortex	UBERON:0000451	80.89	gold quality
lateral nuclear group of thalamus	UBERON:0002736	80.82	gold quality
frontal cortex	UBERON:0001870	79.51	gold quality
oocyte	CL:0000023	78.95	gold quality
primary visual cortex	UBERON:0002436	78.82	gold quality
neocortex	UBERON:0001950	78.69	gold quality
secondary oocyte	CL:0000655	78.43	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	78.23	gold quality
Brodmann (1909) area 9	UBERON:0013540	77.69	gold quality
anterior cingulate cortex	UBERON:0009835	77.18	gold quality
cingulate cortex	UBERON:0003027	77.12	gold quality
cerebral cortex	UBERON:0000956	77.04	gold quality
occipital lobe	UBERON:0002021	76.74	gold quality
postcentral gyrus	UBERON:0002581	76.27	gold quality
Brodmann (1909) area 46	UBERON:0006483	76.09	gold quality
superior frontal gyrus	UBERON:0002661	75.91	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	75.87	gold quality
cerebellar vermis	UBERON:0004720	75.87	silver quality
entorhinal cortex	UBERON:0002728	75.82	gold quality
parietal lobe	UBERON:0001872	75.66	gold quality
Brodmann (1909) area 23	UBERON:0013554	75.36	silver quality
hypothalamus	UBERON:0001898	74.75	gold quality
middle temporal gyrus	UBERON:0002771	74.73	silver quality
buccal mucosa cell	CL:0002336	74.58	gold quality
telencephalon	UBERON:0001893	74.52	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.45

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): NR1H2, NR1H3, NR3C1

miRNA regulators (miRDB)

137 targeting ABCG4, 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-12118	100.00	65.88	1270
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-4713-3P	100.00	65.92	505
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-4715-3P	99.98	66.03	670
HSA-MIR-3173-3P	99.98	66.49	1217
HSA-MIR-6891-5P	99.98	66.53	1372
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-218-5P	99.93	72.22	2103
HSA-MIR-515-5P	99.92	69.82	2343
HSA-MIR-519E-5P	99.92	69.62	2358
HSA-MIR-106A-5P	99.90	73.94	2683
HSA-MIR-17-5P	99.89	73.83	2665
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-106B-5P	99.88	74.72	2795
HSA-MIR-20A-5P	99.88	74.76	2769
HSA-MIR-20B-5P	99.88	74.01	2621
HSA-MIR-519D-3P	99.88	73.97	2607
HSA-MIR-526B-3P	99.88	74.06	2587
HSA-MIR-93-5P	99.88	73.98	2606
HSA-MIR-4271	99.88	68.32	2244
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-4779	99.86	66.50	1583
HSA-MIR-4728-5P	99.85	69.39	4718

Literature-anchored findings (GeneRIF, showing 17)

• ABCG4 may be involved in macrophage lipid homeostasis. (PMID:11606068)
• Human and mouse orthologs of a new ATP-binding cassette gene, ABCG4: maps to human chromosome 11, is expressed abundantly in brain, and has alternatively-spliced isoforms (PMID:11856881)
• ABCG4 is expressed specifically in the brain and the eye. (PMID:12183068)
• ABCG1 and ABCG4 act in concert with ABCA1 to maximize the removal of excess cholesterol from cells and to generate cholesterol-rich lipoprotein particles (PMID:16902247)
• ABCG4 is highly expressed in microglia on alzheimer disease brain. (PMID:18508037)
• Human ABC transporters ABCG2 (BCRP) and ABCG4 (PMID:18668433)
• This study demonstreated that Abcg4 acts in concert with Abcg2 to efflux Abeta from the brain across the blood-brain barrier. (PMID:22391220)
• These results suggest that ABCA1, ABCG1, and ABCG4 are localized to distinct membrane meso-domains and disturb the meso-domain structures by reorganizing lipids on the plasma membrane (PMID:25302608)
• Study suggests that high ABCG4 expression is associated with poor prognosis in patients with non-small-cell lung cancer with advanced stages. (PMID:26270652)
• HUWE1 and NEDD4-1 are two E3 ligases that are fundamental enzymes in the post-translational regulation of ABCG1 and ABCG4 protein levels and cellular cholesterol export activity (PMID:26296893)
• ABCG1 and ABCG4 alter the distribution of gamma-secretase on the plasma membrane, leading to the decreased gamma-secretase activity and suppressed Abeta secretion (PMID:27196068)
• Both the full-length and the short isoforms of ABCG1 can dimerize with ABCG4, whereas the ABCG2 multidrug transporter is unable to form a heterodimer with ABCG4. (PMID:27228027)
• Modulation of miR-185-5p expression by EBV-miR-BART6 contributes to developmental differences in ABCG4 gene expression in human megakaryocytes (PMID:27816548)
• We show for the first time that Abcg4 may function in vivo to export Abeta at the BBB, in a process that can be antagonized by its putative natural ligand, desmosterol (and possibly cholesterol). (PMID:29042617)
• Intriguingly, DU-145 cells with stably depleted ABCG4 levels not only significantly delayed the development of the tumor but also greatly sensitized the tumor to a low dose of doxorubicin that resulted in complete tumor regression. Collectively, this data reinforces a novel function of ABCG4 in doxorubicin-mediated chemoresistance, and as a potential therapeutic target in drug-induced prostate cancer chemoresistance. (PMID:30834613)
• Alix serves as a co-factor for the interaction between the E3-ubiquitin ligase NEDD4-1 and the ABC transporter targets, ABCG1 and ABCG4. (PMID:31159502)
• Regulation of ABCG4 transporter expression by sterols and LXR ligands. (PMID:33141061)

Cross-species orthologs

15 orthologs

Organism	Symbol	Gene ID
danio_rerio	abcg4a	ENSDARG00000061047
danio_rerio	abcg4b	ENSDARG00000078068
mus_musculus	Abcg4	ENSMUSG00000032131
rattus_norvegicus	Abcg4	ENSRNOG00000008862
drosophila_melanogaster	st	FBGN0003515
drosophila_melanogaster	w	FBGN0003996
drosophila_melanogaster	Atet	FBGN0020762
drosophila_melanogaster	CG4822	FBGN0031220
drosophila_melanogaster	CG31689	FBGN0031449
drosophila_melanogaster	CG9663	FBGN0031516
drosophila_melanogaster	CG31121	FBGN0051121
drosophila_melanogaster	CG32091	FBGN0052091
caenorhabditis_elegans		WBGENE00006522
caenorhabditis_elegans		WBGENE00015479
caenorhabditis_elegans		WBGENE00017179

Paralogs (4): ABCG2 (ENSG00000118777), ABCG5 (ENSG00000138075), ABCG8 (ENSG00000143921), ABCG1 (ENSG00000160179)

Protein

Protein identifiers

ATP-binding cassette sub-family G member 4 — Q9H172 (reviewed: Q9H172)

All UniProt accessions (2): E9PJ00, Q9H172

UniProt curated annotations — full annotation on UniProt →

Function. ATP-dependent transporter of the ATP-binding cassette (ABC) family that may be involved in the cellular efflux of sterols, in particular cholesterol and desmosterol (a cholesterol precursor), to high-density lipoprotein (HDL). May play an important role in the removal of amyloid-beta peptides from brain, in a process that can be antagonized by desmosterol. However it is unclear whether ABCG4 can directly transport amyloid-beta peptides or whether peptide export may be facilitated due to changes in the membrane lipid environment. Induces apoptosis in various cells.

Subunit / interactions. Half-transporter that forms a functional transporter via homo- or heterodimerization. Homodimer. Heterodimers with ABCG1.

Subcellular location. Cell membrane. Cytoplasmic vesicle membrane. Endosome membrane.

Tissue specificity. Expressed specifically in the brain and the eye.

Induction. Protein expression is stabilized by cellular cholesterol status and cholesterol synthesis intermediates desmosterol, lathosterol and lanosterol.

Miscellaneous. Whether ABCG4 is an LXR target gene, is still under debate. Studies performed in monocytes, and in one astrocyte cell line indicated that ABCG4 expression could be up-regulated by oxysterols and other LXR ligands. However, subsequent observations in a number of different cell types (primary mouse cells, oligodendrocytes and neuron-like cell lines) have not confirmed this observation.

Similarity. Belongs to the ABC transporter superfamily. ABCG family. Eye pigment precursor importer (TC 3.A.1.204) subfamily.

Isoforms (4)

UniProt ID	Names	Canonical?
Q9H172-1	1, B	yes
Q9H172-2	2, T3, T4
Q9H172-3	3, M, T1
Q9H172-4	4, T2

RefSeq proteins (4): NP_001135977, NP_001335120, NP_001335121, NP_071452* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003439	ABC_transporter-like_ATP-bd	Domain
IPR003593	AAA+_ATPase	Domain
IPR013525	ABC2_TM	Domain
IPR017871	ABC_transporter-like_CS	Conserved_site
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR043926	ABCG_dom	Domain
IPR050352	ABCG_transporters	Family

Pfam: PF00005, PF01061, PF19055

Catalyzed reactions (Rhea), 2 shown:

• cholesterol(in) + ATP + H2O = cholesterol(out) + ADP + phosphate + H(+) (RHEA:39051)
• desmosterol(in) + ATP + H2O = desmosterol(out) + ADP + phosphate + H(+) (RHEA:67932)

UniProt features (23 total): topological domain 7, transmembrane region 6, splice variant 3, domain 2, chain 1, binding site 1, glycosylation site 1, sequence variant 1, mutagenesis site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H172-F1	83.69	0.58

Functional residue map

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

Ligand- & substrate-binding residues (1): 102–109

Glycosylation sites (1): 422

Mutagenesis-validated functional residues (1):

Position	Phenotype
108	abrogates atpase activity. induces a dominant-negative effect on abcg1 atp-activity. does not affect subcellular localiz

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-1369062	ABC transporters in lipid homeostasis
R-HSA-382551	Transport of small molecules
R-HSA-382556	ABC-family protein mediated transport

MSigDB gene sets: 181 (showing top): GOBP_CELLULAR_RESPONSE_TO_LIPOPROTEIN_PARTICLE_STIMULUS, BENPORATH_ES_WITH_H3K27ME3, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, GOBP_RESPONSE_TO_PEPTIDE, GOBP_STEROL_HOMEOSTASIS, GOBP_POSITIVE_REGULATION_OF_CHOLESTEROL_EFFLUX, GOBP_REGULATION_OF_CHOLESTEROL_EFFLUX, GOBP_POSITIVE_REGULATION_OF_STEROL_TRANSPORT, GOBP_POSITIVE_REGULATION_OF_ALCOHOL_BIOSYNTHETIC_PROCESS, GGGTGGRR_PAX4_03, GOBP_POSITIVE_REGULATION_OF_LIPID_TRANSPORT, KEGG_ABC_TRANSPORTERS, GOBP_ORGANIC_HYDROXY_COMPOUND_TRANSPORT, GOBP_LIPID_HOMEOSTASIS, GOBP_CHOLESTEROL_EFFLUX

GO Biological Process (10): regulation of DNA-templated transcription (GO:0006355), positive regulation of cholesterol efflux (GO:0010875), cholesterol efflux (GO:0033344), cholesterol homeostasis (GO:0042632), positive regulation of cholesterol biosynthetic process (GO:0045542), transmembrane transport (GO:0055085), cellular response to high density lipoprotein particle stimulus (GO:0071403), cellular response to leukemia inhibitory factor (GO:1990830), lipid transport (GO:0006869), sterol transport (GO:0015918)

GO Molecular Function (10): ATP binding (GO:0005524), ATP hydrolysis activity (GO:0016887), ABC-type sterol transporter activity (GO:0034041), identical protein binding (GO:0042802), protein homodimerization activity (GO:0042803), protein heterodimerization activity (GO:0046982), nucleotide binding (GO:0000166), protein binding (GO:0005515), protein dimerization activity (GO:0046983), ABC-type transporter activity (GO:0140359)

GO Cellular Component (6): plasma membrane (GO:0005886), endosome membrane (GO:0010008), cytoplasmic vesicle (GO:0031410), endosome (GO:0005768), membrane (GO:0016020), cytoplasmic vesicle membrane (GO:0030659)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
ABC-family protein mediated transport	1
Transport of small molecules	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
transport	2
protein binding	2
protein dimerization activity	2
cytoplasmic vesicle	2
DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
regulation of cholesterol efflux	1
positive regulation of cholesterol transport	1
cholesterol efflux	1
cholesterol transport	1
sterol homeostasis	1
cholesterol biosynthetic process	1
regulation of cholesterol biosynthetic process	1
positive regulation of cholesterol metabolic process	1
positive regulation of sterol biosynthetic process	1
positive regulation of alcohol biosynthetic process	1
cellular process	1
cellular response to lipoprotein particle stimulus	1
cellular response to cytokine stimulus	1
response to leukemia inhibitory factor	1
lipid localization	1
lipid transport	1
organic hydroxy compound transport	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
ribonucleoside triphosphate phosphatase activity	1
ATP-dependent activity	1
ATPase-coupled lipid transmembrane transporter activity	1
ABC-type transporter activity	1
identical protein binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
binding	1
ATPase-coupled transmembrane transporter activity	1
membrane	1
cell periphery	1
endosome	1
cytoplasmic vesicle membrane	1
bounding membrane of organelle	1

Protein interactions and networks

STRING

1674 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ABCG4	APOA1	P02647	708
ABCG4	APOE	P02649	666
ABCG4	ABCF3	Q9NUQ8	586
ABCG4	ABCF2	Q9UG63	554
ABCG4	ABCC5	O15440	530
ABCG4	ABCC1	P33527	518
ABCG4	CYP46A1	Q9Y6A2	505
ABCG4	APOA2	P02652	505
ABCG4	ABCC10	Q5T3U5	490
ABCG4	ABCC11	Q96J66	489
ABCG4	ABCD4	O14678	470
ABCG4	ABCC2	Q92887	459
ABCG4	XPR1	Q9UBH6	445
ABCG4	ABCC4	O15439	444
ABCG4	ABCC9	O60706	440

IntAct

22 interactions, top by confidence:

A	B	Type	Score
ABCG4	TMEM50A	psi-mi:“MI:0915”(physical association)	0.560
ABCG4	GPR152	psi-mi:“MI:0915”(physical association)	0.560
SGTB	ABCG4	psi-mi:“MI:0915”(physical association)	0.560
GPR152	ABCG4	psi-mi:“MI:0915”(physical association)	0.560
TMEM50A	ABCG4	psi-mi:“MI:0915”(physical association)	0.560
ABCG4	PLEKHF2	psi-mi:“MI:0915”(physical association)	0.560
ABCG4	WFS1	psi-mi:“MI:0915”(physical association)	0.560
ABCG4	ABCG1	psi-mi:“MI:0915”(physical association)	0.400
ABCG4	ABCG4	psi-mi:“MI:0915”(physical association)	0.400
ABCG4	ZDHHC17	psi-mi:“MI:0915”(physical association)	0.370
INSR	UBXN8	psi-mi:“MI:0914”(association)	0.350
INSR	RIMOC1	psi-mi:“MI:0914”(association)	0.350
ABCG4	SGTB	psi-mi:“MI:0915”(physical association)	0.000
ABCG4	PLEKHF2	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (7): ABCG4 (Two-hybrid), NEDD4 (Affinity Capture-Western), PDCD6IP (Affinity Capture-Western), GPR152 (Two-hybrid), PLEKHF2 (Two-hybrid), TMEM50A (Two-hybrid), SGTB (Two-hybrid)

ESM2 similar proteins: A0A0M3R8G1, A0A0M4FLW6, A9YWR6, B8ALI0, B8BDK8, B9FMX4, D3GE74, D3ZCM3, D4AYW0, O18866, O18867, O80946, P45843, P45844, P93025, Q00195, Q03041, Q03720, Q08460, Q12791, Q16280, Q28204, Q28718, Q5W274, Q62398, Q62976, Q64343, Q7XA72, Q84K47, Q8GU83, Q8H8V7, Q8RWI9, Q8RXN0, Q90ZC7, Q91WA9, Q93YS4, Q96290, Q9BG98, Q9C8J8, Q9C8K2

Diamond homologs: A0A059J0G5, A0A0M3R8G1, A0A0M4FLW6, A0A1U8QKX8, A2WSH0, A9YWR6, B8ALI0, B9G300, B9G5Y5, C7J6G6, D3GE74, D3ZCM3, F2PLH2, F2RSQ6, F2SHL1, H9BZ66, O24367, O80946, O81016, P10090, P25371, P45843, P45844, P58428, Q05360, Q08234, Q0JLC5, Q16928, Q17320, Q27256, Q2QV81, Q4GZT4, Q4WFQ4, Q54CG0, Q55DA0, Q55DR1, Q55DW4, Q55GB1, Q5MB13, Q64343

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	10
Likely pathogenic	0
Uncertain significance	57
Likely benign	5
Benign	3

Top pathogenic / likely-pathogenic (10)

Variant ID	HGVS	Classification
1341168	GRCh37/hg19 11q23.1-24.3(chr11:112375478-128785742)x3	Pathogenic
144588	GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3	Pathogenic
148379	GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3	Pathogenic
148508	GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	Pathogenic
150522	GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3	Pathogenic
3148862	GRCh37/hg19 11q23.3-25(chr11:116683755-134937416)x3	Pathogenic
4682793	GRCh37/hg19 11q23.3-24.2(chr11:115887338-126148523)x3	Pathogenic
57503	GRCh38/hg38 11q23.3-25(chr11:118789765-134998513)x3	Pathogenic
625659	GRCh37/hg19 11q23.3-25(chr11:116691675-134889485)	Pathogenic
687452	GRCh37/hg19 11q23.3-25(chr11:117830263-134938470)x3	Pathogenic

SpliceAI

2627 predictions. Top by Δscore:

Variant	Effect	Δscore
11:119149953:GGTC:G	acceptor_gain	1.0000
11:119150151:G:GG	donor_gain	1.0000
11:119150179:G:GT	donor_gain	1.0000
11:119150201:GGG:G	donor_gain	1.0000
11:119150202:GGG:G	donor_gain	1.0000
11:119154021:TGCA:T	acceptor_loss	1.0000
11:119154023:CAGGT:C	acceptor_loss	1.0000
11:119154024:AGGTT:A	acceptor_loss	1.0000
11:119154025:GGTT:G	acceptor_gain	1.0000
11:119154140:ACAGG:A	donor_loss	1.0000
11:119154144:G:T	donor_loss	1.0000
11:119154145:T:G	donor_loss	1.0000
11:119154250:A:AG	acceptor_gain	1.0000
11:119154251:T:G	acceptor_gain	1.0000
11:119154255:T:TA	acceptor_gain	1.0000
11:119154256:GCA:G	acceptor_loss	1.0000
11:119154257:CA:C	acceptor_loss	1.0000
11:119154258:A:AG	acceptor_gain	1.0000
11:119154258:A:AT	acceptor_loss	1.0000
11:119154258:AG:A	acceptor_gain	1.0000
11:119154258:AGG:A	acceptor_gain	1.0000
11:119154259:G:GA	acceptor_gain	1.0000
11:119154259:GG:G	acceptor_gain	1.0000
11:119154259:GGG:G	acceptor_gain	1.0000
11:119154259:GGGA:G	acceptor_gain	1.0000
11:119154381:G:GT	donor_gain	1.0000
11:119154389:GATG:G	donor_gain	1.0000
11:119154390:ATGGT:A	donor_loss	1.0000
11:119154391:TGGTG:T	donor_loss	1.0000
11:119154393:G:GG	donor_gain	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000152386 (11:119152120 G>A), RS1000326400 (11:119159100 G>C,T), RS1001093937 (11:119148942 G>A), RS1001151479 (11:119163159 G>T), RS1001193323 (11:119151648 T>G), RS1001491241 (11:119159496 T>C), RS1002039898 (11:119156266 G>GAC), RS1002065770 (11:119156571 T>C), RS1002709062 (11:119159154 T>G), RS1002868508 (11:119153056 A>G), RS1002920989 (11:119152721 C>T), RS1003126633 (11:119147743 G>C), RS1003149931 (11:119159396 A>G), RS1003281065 (11:119155058 C>T), RS1003410015 (11:119148217 C>A,T)

Disease associations

OMIM: gene MIM:607784 | disease phenotypes:

GenCC curated gene-disease

Mondo (2): prostate cancer (MONDO:0008315), RASopathy (MONDO:0021060)

Orphanet (2): Familial prostate cancer (Orphanet:1331), RASopathy (Orphanet:536391)

HPO phenotypes

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

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST004627_18	Lymphocyte count	8.000000e-09
GCST004633_93	Neutrophil percentage of white cells	2.000000e-09
GCST90002393_446	Monocyte count	5.000000e-12
GCST90002394_353	Monocyte percentage of white cells	4.000000e-12
GCST90002399_70	Neutrophil percentage of white cells	5.000000e-15

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0004587	lymphocyte count
EFO:0007990	neutrophil percentage of leukocytes
EFO:0005091	monocyte count
EFO:0007989	monocyte percentage of leukocytes

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D011471	Prostatic Neoplasms	C04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: transporter — ABCG subfamily

CTD chemical–gene interactions

23 total (human), top 23 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, increases expression, increases methylation	2
propionaldehyde	increases expression	1
sodium arsenate	decreases expression, increases abundance	1
ethyl-p-hydroxybenzoate	decreases expression	1
butyraldehyde	increases expression	1
pentanal	increases expression	1
exemestane	increases expression	1
nutlin 3	increases expression, affects cotreatment	1
jinfukang	affects cotreatment, increases expression	1
Sunitinib	decreases expression	1
Aldehydes	increases expression	1
Arsenic	decreases expression, increases abundance	1
Camptothecin	increases expression	1
Cisplatin	affects cotreatment, increases expression	1
Dactinomycin	affects cotreatment, increases expression	1
Estradiol	affects cotreatment, increases expression	1
Lead	affects expression	1
Niclosamide	increases expression	1
Testosterone	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Vincristine	decreases expression, decreases response to substance	1
Aflatoxin B1	increases expression	1
Okadaic Acid	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00029224	PHASE4	COMPLETED	Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions
NCT00035997	PHASE4	COMPLETED	Open-label Trial on the Effect of I.V. Zoledronic Acid 4 mg on Bone Density in Hormone Sensitive Prostate Cancer Patients With Bone Metastasis
NCT00063609	PHASE4	COMPLETED	The Effect of Zoledronic Acid on Bone Loss in Prostate Cancer Patients Undergoing Androgen Deprivation Therapy
NCT00103623	PHASE4	SUSPENDED	The Plenaxis® Experience Study
NCT00106392	PHASE4	COMPLETED	A Safety and Efficacy Study of Prograf in the Prevention of Erectile Dysfunction After Radical Prostatectomy
NCT00185029	PHASE4	UNKNOWN	MR-Lymphography and Lymph Node Staging in Prostate Cancer
NCT00199485	PHASE4	COMPLETED	Angelica Sinensis for the Treatment of Hot Flashes in Men Undergoing LHRH Therapy for Prostate Cancer
NCT00219219	PHASE4	COMPLETED	Zoledronic Acid in the Prevention of Skeletal-related Events in Hormone Refractory and Hormone-sensitive Prostate Cancer Patients With Bone Metastases
NCT00219271	PHASE4	COMPLETED	Effect Of Zoledronic Acid On Circulating And Bone Marrow-Residing Prostate Cancer Cells In Patients With Clinically Localized Prostate Cancer
NCT00237146	PHASE4	COMPLETED	Study to Evaluate Zoledronic Acid on Quality of Life and Skeletal-related Events as Adjuvant Treatment in Patients With Hormone-naïve Prostate Cancer and Bone Metastasis Who Have Undergone Orchiectomy
NCT00242554	PHASE4	COMPLETED	Open-label Phase IV Clinical Trial to Evaluate the Safety and Tolerability of Zoledronic Acid in Patients With Prostate Cancer and Bone Metastases
NCT00280098	PHASE4	COMPLETED	Docetaxel in the Treatment of Hormone Refractory Prostate Cancer
NCT00293696	PHASE4	COMPLETED	Casodex/Zoladex Biomarkers in Localised Prostate Cancer
NCT00334139	PHASE4	COMPLETED	Effect of Zoledronic Acid on Bone Metabolism in Patients With Bone Metastasis and Prostate or Breast Cancer
NCT00375765	PHASE4	COMPLETED	Effects On Dihydrotestosterone Regulated Gene Expression In Benign Prostatic Hyperplasia Or Prostate Cancer
NCT00391690	PHASE4	COMPLETED	Evaluation of Bone Markers as Diagnostic Tools for Early Detection of Bone Metastases in Patients With High Risk Prostate Cancer
NCT00422708	PHASE4	COMPLETED	Local Anesthesia for Prostate Biopsy
NCT00526331	PHASE4	COMPLETED	Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy
NCT00590213	PHASE4	COMPLETED	Compare the Value of Prophylactic Versus Therapeutic Breast Radiotherapy in CASODEX
NCT00629330	PHASE4	TERMINATED	Dissemination of Prostate Cancer Screening to PCP’s in African American Communities
NCT00771966	PHASE4	COMPLETED	Radical Prostatectomy and Perioperative Fluid Therapy
NCT00805701	PHASE4	COMPLETED	Study Assessing The Efficacy And Safety Of Avodart (Dutasteride) At Improving Urinary Symptoms In Men With Prostate Cancer Who Are Undergoing Seed Implantation
NCT00859027	PHASE4	COMPLETED	Effect Of Risedronate On Bone Mass In Older Men Receiving Neoadjuvant Therapy For Prostate Cancer
NCT00906269	PHASE4	UNKNOWN	Can Hyperbaric Oxygen Improve Erectile Function Following Surgery for Prostate Cancer
NCT00953277	PHASE4	COMPLETED	Study of Nerve Reconstruction Using AVANCE in Subjects Who Undergo Robotic Assisted Prostatectomy for Treatment of Prostate Cancer
NCT00982800	PHASE4	COMPLETED	Does Postoperative Gabapentin Reduce Pain, Opioid Consumption and Anxiety and Have a Positive Effect on Health Related Quality of Life After Radical Prostatectomy?
NCT01083199	PHASE4	COMPLETED	Global Performance Evaluation of the AMS CONTINUUM™ Device
NCT01136226	PHASE4	COMPLETED	Evaluate Recovery of Testosterone for Patients Using Eligard
NCT01161563	PHASE4	COMPLETED	Randomized Crossover Trial to Assess the Tolerability of Gonadotropin Releasing Hormone (GnRH) Analogue Administration
NCT01230905	PHASE4	COMPLETED	Study to Monitor the Effects of Androgen Suppression Treatment on the Heart
NCT01296672	PHASE4	COMPLETED	3 Month Finasteride Challenge Test Can Significantly Improve the Performance of Screening for Prostate Cancer
NCT01365143	PHASE4	TERMINATED	Prospective Randomized Trial Comparing Robotic Versus Open Radical Prostatectomy
NCT01379742	PHASE4	UNKNOWN	Comparison of Between ThinSeed™ and OncoSeed™ for Permanent Prostate Brachytherapy
NCT01486563	PHASE4	COMPLETED	Hydroxyethyl Starch and Renal Function After Radical Prostatectomy
NCT01511874	PHASE4	COMPLETED	Efficacy and Safety Study of ELIGARD 22.5mg With Prostate Cancer
NCT01512472	PHASE4	TERMINATED	Firmagon (Degarelix) Intermittent Therapy
NCT01547416	PHASE4	COMPLETED	The Effect of Combined General/Epidural Anesthesia Versus General Anesthesia on Diaphragmatic Function
NCT01571544	PHASE4	COMPLETED	The Use of Thermal Suits as Preventing Hypothermia During Surgery
NCT01581749	PHASE4	UNKNOWN	Evaluation of Truebeam for Low-Intermediate Risk Prostate Cancer
NCT01649635	PHASE4	COMPLETED	Study of Cabazitaxel Combined With Prednisone and Prophylaxis of Neutropenia Complications in the Treatment of Patients With Metastatic Castration-resistant Prostate Cancer