ATP13A1

Summary

ATP13A1 (ATPase 13A1, HGNC:24215) is a protein-coding gene on chromosome 19p13.11, encoding Endoplasmic reticulum transmembrane helix translocase (Q9HD20). Endoplasmic reticulum translocase required to remove mitochondrial transmembrane proteins mistargeted to the endoplasmic reticulum.

Enables membrane protein dislocase activity. Involved in extraction of mislocalized protein from ER membrane. Located in membrane.

Source: NCBI Gene 57130 — RefSeq curated summary.

At a glance

• GWAS associations: 16
• Clinical variants (ClinVar): 232 total — 1 pathogenic
• MANE Select transcript: NM_020410

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24215
Approved symbol	ATP13A1
Name	ATPase 13A1
Location	19p13.11
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1825, FLJ31858, CGI-152
Ensembl gene	ENSG00000105726
Ensembl biotype	protein_coding
OMIM	619118
Entrez	57130

Gene structure

Transcript identifiers

Ensembl transcripts: 30 — 18 protein_coding, 10 retained_intron, 2 protein_coding_CDS_not_defined

ENST00000291503, ENST00000357324, ENST00000455627, ENST00000467160, ENST00000469641, ENST00000471063, ENST00000473243, ENST00000474955, ENST00000487364, ENST00000491221, ENST00000492774, ENST00000496082, ENST00000497156, ENST00000497556, ENST00000497762, ENST00000888076, ENST00000888077, ENST00000888078, ENST00000888079, ENST00000888080, ENST00000888081, ENST00000940130, ENST00000940131, ENST00000940132, ENST00000940133, ENST00000940134, ENST00000940135, ENST00000940136, ENST00000954190, ENST00000954191

RefSeq mRNA: 1 — MANE Select: NM_020410 NM_020410

CCDS: CCDS32970

Canonical transcript exons

ENST00000357324 — 26 exons

Exon	Start	End
ENSE00001480977	19663271	19663676
ENSE00001481013	19655528	19655654
ENSE00001481028	19656660	19656766
ENSE00001481031	19656847	19656916
ENSE00001481040	19659601	19659791
ENSE00001481041	19659898	19659987
ENSE00003479500	19653784	19653894
ENSE00003481871	19653969	19654144
ENSE00003482295	19649567	19649663
ENSE00003483740	19647414	19647528
ENSE00003484750	19645874	19645985
ENSE00003492559	19645647	19645790
ENSE00003495910	19654543	19654700
ENSE00003502220	19655878	19655933
ENSE00003507359	19646205	19646347
ENSE00003509769	19656054	19656183
ENSE00003517033	19647599	19647759
ENSE00003537479	19657336	19657408
ENSE00003573667	19655316	19655453
ENSE00003576730	19647129	19647325
ENSE00003582526	19656994	19657149
ENSE00003592899	19652595	19652720
ENSE00003632576	19655119	19655239
ENSE00003639883	19651689	19651797
ENSE00003643678	19645198	19645532
ENSE00003689671	19649741	19649940

Expression profiles

Bgee: expression breadth ubiquitous, 266 present calls, max score 96.12.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 32.8610 / max 216.9651, expressed in 1814 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
180165	32.8610	1814

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
granulocyte	CL:0000094	96.12	gold quality
spleen	UBERON:0002106	95.25	gold quality
right lobe of thyroid gland	UBERON:0001119	94.79	gold quality
small intestine Peyer’s patch	UBERON:0003454	94.71	gold quality
stromal cell of endometrium	CL:0002255	94.64	gold quality
right ovary	UBERON:0002118	94.42	gold quality
right hemisphere of cerebellum	UBERON:0014890	94.34	gold quality
left lobe of thyroid gland	UBERON:0001120	94.30	gold quality
lower esophagus mucosa	UBERON:0035834	94.18	gold quality
right uterine tube	UBERON:0001302	94.16	gold quality
left ovary	UBERON:0002119	94.08	gold quality
body of uterus	UBERON:0009853	94.00	gold quality
pituitary gland	UBERON:0000007	93.82	gold quality
cerebellar hemisphere	UBERON:0002245	93.68	gold quality
adenohypophysis	UBERON:0002196	93.63	gold quality
body of stomach	UBERON:0001161	93.50	gold quality
cerebellar cortex	UBERON:0002129	93.50	gold quality
mucosa of transverse colon	UBERON:0004991	93.47	gold quality
apex of heart	UBERON:0002098	93.42	gold quality
right frontal lobe	UBERON:0002810	93.42	gold quality
endocervix	UBERON:0000458	93.41	gold quality
skin of leg	UBERON:0001511	93.37	gold quality
lymph node	UBERON:0000029	93.29	gold quality
thyroid gland	UBERON:0002046	93.21	gold quality
metanephros cortex	UBERON:0010533	93.21	gold quality
transverse colon	UBERON:0001157	93.13	gold quality
mucosa of stomach	UBERON:0001199	93.09	gold quality
minor salivary gland	UBERON:0001830	93.09	gold quality
small intestine	UBERON:0002108	93.05	gold quality
body of pancreas	UBERON:0001150	92.93	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-MTAB-6142	no	31.71
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): YY1

miRNA regulators (miRDB)

9 targeting ATP13A1, 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-4447	99.85	67.81	2900
HSA-MIR-4699-3P	99.71	70.15	3142
HSA-MIR-4472	99.56	66.08	1478
HSA-MIR-5580-5P	99.38	66.96	1139
HSA-MIR-7109-5P	99.18	66.13	1057
HSA-MIR-541-3P	96.07	66.11	1271
HSA-MIR-654-5P	96.07	66.18	1280
HSA-MIR-4649-5P	93.02	63.85	141
HSA-MIR-6729-5P	93.02	62.76	138

Literature-anchored findings (GeneRIF, showing 3)

• The endoplasmic reticulum P5A-ATPase is a transmembrane helix dislocase. (PMID:32973005)
• The P5-type ATPase ATP13A1 modulates major histocompatibility complex I-related protein 1 (MR1)-mediated antigen presentation. (PMID:34968463)
• An ATP13A1-assisted topogenesis pathway for folding multi-spanning membrane proteins. (PMID:38723633)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	atp13a1	ENSDARG00000029931
mus_musculus	Atp13a1	ENSMUSG00000031862
rattus_norvegicus	Atp13a1	ENSRNOG00000010776
drosophila_melanogaster	CG6230	FBGN0027582
caenorhabditis_elegans		WBGENE00007514

Paralogs (21): ATP2C1 (ENSG00000017260), ATP1A2 (ENSG00000018625), ATP2B4 (ENSG00000058668), ATP2C2 (ENSG00000064270), ATP2B3 (ENSG00000067842), ATP2B1 (ENSG00000070961), ATP2A3 (ENSG00000074370), ATP12A (ENSG00000075673), ATP1A3 (ENSG00000105409), ATP4A (ENSG00000105675), ATP7B (ENSG00000123191), ATP13A4 (ENSG00000127249), ATP1A4 (ENSG00000132681), ATP13A3 (ENSG00000133657), ATP2B2 (ENSG00000157087), ATP13A2 (ENSG00000159363), ATP1A1 (ENSG00000163399), ATP7A (ENSG00000165240), ATP2A2 (ENSG00000174437), ATP13A5 (ENSG00000187527), ATP2A1 (ENSG00000196296)

Protein

Protein identifiers

Endoplasmic reticulum transmembrane helix translocase — Q9HD20 (reviewed: Q9HD20)

Alternative names: Endoplasmic reticulum P5A-ATPase

All UniProt accessions (2): Q9HD20, H7C3H2

UniProt curated annotations — full annotation on UniProt →

Function. Endoplasmic reticulum translocase required to remove mitochondrial transmembrane proteins mistargeted to the endoplasmic reticulum. Acts as a dislocase that mediates the ATP-dependent extraction of mislocalized mitochondrial transmembrane proteins from the endoplasmic reticulum membrane. Specifically binds mitochondrial tail-anchored transmembrane proteins: has an atypically large substrate-binding pocket that recognizes and binds moderately hydrophobic transmembranes with short hydrophilic lumenal domains.

Subcellular location. Endoplasmic reticulum membrane.

Domain organisation. Contains a large substrate-binding pocket that recognizes alpha-helical transmembranes, which alternately faces the endoplasmic reticulum lumen and cytosol, while remaining accessible to the lipid bilayer through a lateral opening. The translocase alternates between two conformations: inward-open (E1) and outward-open (E2) states. Undergoes a series of conformational changes with ATP-binding, phosphorylation of the Asp active site and subsequent dephosphorylation in a Post-Albers cycle (i.e., E1 -> E1-ATP -> E1P-ADP -> E1P -> E2P -> E2-Pi -> E1). A substrate transmembrane helix with a short, preferentially positively charged lumenal segment binds to the outward-open pocket and the E2P-to-E1 transition flips the transmembrane by a switch from the outward-open to inward-open conformation.

Similarity. Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type V subfamily.

Isoforms (3)

UniProt ID	Names	Canonical?
Q9HD20-1	A	yes
Q9HD20-2	B
Q9HD20-3	C

RefSeq proteins (1): NP_065143* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001757	P_typ_ATPase	Family
IPR006544	P-type_TPase_V	Family
IPR008250	ATPase_P-typ_transduc_dom_A_sf	Homologous_superfamily
IPR018303	ATPase_P-typ_P_site	PTM
IPR023214	HAD_sf	Homologous_superfamily
IPR023298	ATPase_P-typ_TM_dom_sf	Homologous_superfamily
IPR023299	ATPase_P-typ_cyto_dom_N	Homologous_superfamily
IPR036412	HAD-like_sf	Homologous_superfamily
IPR044492	P_typ_ATPase_HD_dom	Domain
IPR047820	P5A-type_ATPase	Family
IPR057255	2TM_P5A-ATPase	Domain
IPR059000	ATPase_P-type_domA	Domain

Pfam: PF00122, PF13246, PF23143

Catalyzed reactions (Rhea), 1 shown:

• [protein]-with a C-terminal TM segment(out) + ATP + H2O = [protein]-with a C-terminal TM segment(in) + ADP + phosphate + H(+) (RHEA:66168)

UniProt features (54 total): topological domain 11, transmembrane region 10, region of interest 8, binding site 8, modified residue 3, splice variant 3, sequence conflict 3, glycosylation site 2, initiator methionine 1, chain 1, compositionally biased region 1, active site 1, sequence variant 1, mutagenesis site 1

Structure

Experimental structures (PDB)

4 structures.

PDB	Method	Resolution (Å)
9JBR	ELECTRON MICROSCOPY	3.4
9JBZ	ELECTRON MICROSCOPY	3.67
9JBM	ELECTRON MICROSCOPY	3.83
9JBX	ELECTRON MICROSCOPY	3.87

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9HD20-F1	79.12	0.18

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): 533 (4-aspartylphosphate intermediate)

Ligand- & substrate-binding residues (8): 533–535; 533; 535; 626; 684; 749; 864–868; 864

Post-translational modifications (3): 2, 899, 905

Glycosylation sites (2): 287, 420

Mutagenesis-validated functional residues (1):

Position	Phenotype
533	loss of atpase activity.

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-936837	Ion transport by P-type ATPases
R-HSA-382551	Transport of small molecules
R-HSA-983712	Ion channel transport

MSigDB gene sets: 147 (showing top): GOBP_TRANSITION_METAL_ION_TRANSPORT, YY1_Q6, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_MEMBRANE, IRF_Q6, GOBP_MONOATOMIC_ION_HOMEOSTASIS, GOBP_LOCALIZATION_WITHIN_MEMBRANE, MILI_PSEUDOPODIA_CHEMOTAXIS_DN, ISRE_01, GOBP_TRANSMEMBRANE_TRANSPORT, YGCGYRCGC_UNKNOWN, GOBP_HOMEOSTATIC_PROCESS, GOBP_CHEMICAL_HOMEOSTASIS, GOCC_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK, chr19p13

GO Biological Process (7): intracellular calcium ion homeostasis (GO:0006874), protein transport (GO:0015031), monoatomic ion transmembrane transport (GO:0034220), transmembrane transport (GO:0055085), extraction of mislocalized protein from ER membrane (GO:0140569), manganese ion transmembrane transport (GO:0071421), monoatomic cation transmembrane transport (GO:0098655)

GO Molecular Function (11): ATP binding (GO:0005524), ABC-type manganese transporter activity (GO:0015410), P-type ion transporter activity (GO:0015662), ATP hydrolysis activity (GO:0016887), ATPase-coupled monoatomic cation transmembrane transporter activity (GO:0019829), metal ion binding (GO:0046872), membrane protein dislocase activity (GO:0140567), nucleotide binding (GO:0000166), transporter activity (GO:0005215), protein binding (GO:0005515), P-type transmembrane transporter activity (GO:0140358)

GO Cellular Component (3): endoplasmic reticulum membrane (GO:0005789), membrane (GO:0016020), endoplasmic reticulum (GO:0005783)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Ion channel transport	1
Transport of small molecules	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
transport	2
ATP-dependent activity	2
ATPase-coupled transmembrane transporter activity	2
intracellular monoatomic cation homeostasis	1
calcium ion homeostasis	1
intracellular protein localization	1
establishment of protein localization	1
monoatomic ion transport	1
transmembrane transport	1
cellular process	1
extraction of mislocalized protein from membrane	1
manganese ion transport	1
monoatomic cation transmembrane transport	1
monoatomic cation transport	1
monoatomic ion transmembrane transport	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
manganese ion transmembrane transporter activity	1
ATPase-coupled monoatomic cation transmembrane transporter activity	1
ABC-type transporter activity	1
P-type transmembrane transporter activity	1
ribonucleoside triphosphate phosphatase activity	1
monoatomic cation transmembrane transporter activity	1
active monoatomic ion transmembrane transporter activity	1
cation binding	1
protein carrier activity	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
molecular_function	1
binding	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
cellular anatomical structure	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

1960 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ATP13A1	ATAD1	Q8NBU5	478
ATP13A1	YJEFN3	A6XGL0	478
ATP13A1	MSTO1	Q9BUK6	459
ATP13A1	ZNF101	Q8IZC7	445
ATP13A1	GMIP	Q9P107	406
ATP13A1	PELO	Q9BRX2	400
ATP13A1	FBXO42	Q6P3S6	400
ATP13A1	ATP11C	Q8NB49	388
ATP13A1	NHLRC2	Q8NBF2	379
ATP13A1	DNAH1	Q9P2D7	375
ATP13A1	LDHA	P00338	373
ATP13A1	BORCS8	Q96FH0	366
ATP13A1	ZNF14	P17017	365
ATP13A1	SLC11A2	P49281	360
ATP13A1	ATP13A5	Q4VNC0	358

IntAct

164 interactions, top by confidence:

A	B	Type	Score
	DDR1	psi-mi:“MI:2364”(proximity)	0.670
NIPAL1	ESYT2	psi-mi:“MI:0914”(association)	0.640
CD27	TCAF2	psi-mi:“MI:0914”(association)	0.640
ATP13A1		psi-mi:“MI:0915”(physical association)	0.550
TGOLN2	DENND11	psi-mi:“MI:0914”(association)	0.530
BTN2A1	POTEF	psi-mi:“MI:0914”(association)	0.530
DLK1	TCAF2	psi-mi:“MI:0914”(association)	0.530
LRRTM1	UPK3BL1	psi-mi:“MI:0914”(association)	0.530
CD226	MEN1	psi-mi:“MI:0914”(association)	0.530
CCDC107	PLD2	psi-mi:“MI:0914”(association)	0.530
GABRG2	GPAA1	psi-mi:“MI:0914”(association)	0.530
RHEX	NOS1AP	psi-mi:“MI:0914”(association)	0.530
CD40	EXOC5	psi-mi:“MI:0914”(association)	0.530
CCR6	PODXL	psi-mi:“MI:0914”(association)	0.530
DLK1	SCAMP3	psi-mi:“MI:0914”(association)	0.530
C3orf18	SPAG9	psi-mi:“MI:0914”(association)	0.530
CD244	MTX2	psi-mi:“MI:0914”(association)	0.530
IL1R2	EXOC5	psi-mi:“MI:0914”(association)	0.530
EVA1C	STK25	psi-mi:“MI:0914”(association)	0.530
LDLRAD1	ADAM10	psi-mi:“MI:0914”(association)	0.530
OPALIN	BTAF1	psi-mi:“MI:0914”(association)	0.530
TMEM9	ESYT2	psi-mi:“MI:0914”(association)	0.530
GLP1R	ATP13A1	psi-mi:“MI:0915”(physical association)	0.510
ATP13A1	GLP1R	psi-mi:“MI:0915”(physical association)	0.510
ATP13A1	ZYG11B	psi-mi:“MI:0915”(physical association)	0.500
ATP13A1	AGTR1	psi-mi:“MI:0915”(physical association)	0.370
ATP13A1	BUD31	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (266): ATP13A1 (Affinity Capture-MS), ATP13A1 (Co-fractionation), ATP13A1 (Affinity Capture-MS), ATP13A1 (Proximity Label-MS), ATP13A1 (Proximity Label-MS), ZYG11B (Affinity Capture-MS), VCPIP1 (Affinity Capture-MS), ATP13A1 (Affinity Capture-MS), ATP13A1 (Affinity Capture-MS), ATP13A1 (Affinity Capture-MS), ATP13A1 (Affinity Capture-MS), ATP13A1 (Affinity Capture-MS), ATP13A1 (Affinity Capture-MS), ATP13A1 (Affinity Capture-RNA), ATP13A1 (Proximity Label-MS)

ESM2 similar proteins: A0A0B7P9G0, A0A0R4IMY7, A0JPA0, D3ZAA9, O35454, P0C1Q3, P0C588, P16067, P20594, P32232, P33402, P35525, P46197, P47823, P51432, P51788, Q01970, Q13144, Q14168, Q1LWG4, Q32PX9, Q3TWN3, Q3USB7, Q3V384, Q4U2V3, Q502J0, Q5EBA1, Q5U2P1, Q62688, Q66K14, Q69ZF7, Q6P4Q7, Q7L5N7, Q80YD1, Q8BYI6, Q8CIR4, Q8IYB8, Q8K394, Q8WV93, Q91WT9

Diamond homologs: A0R3Y2, B9QMJ0, O53114, P0A505, P35597, P9WPT0, P9WPT1, Q08853, Q12697, Q21286, Q27533, Q9EPE9, Q9HD20, Q9NQ11, O14072, P39986, P90747, Q4WYP6, Q9LT02, A0A143ZZK9, Q5XF89, Q95050, Q95JN5, Q9H7F0, Q04956, Q5ZWR1, Q93084, P32113, P77868, Q4A0G1, Q64446, Q8U9D9, Q8YPE9, Q98GX6, Q9A7X7, Q9R6X1, Q9SZC9, P13587, Q01896, Q12691

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
ATP13A1	up-regulates	Proliferation
ATP13A1	down-regulates	Apoptosis

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 221 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
SLC-mediated transmembrane transport	12	5.3×	2e-03
Transport of small molecules	17	3.2×	7e-03

GO biological processes:

GO term	Partners	Fold	FDR
post-Golgi vesicle-mediated transport	5	28.0×	8e-04
regulation of intracellular pH	5	16.0×	6e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	170
Likely benign	16
Benign	8

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	Pathogenic

SpliceAI

4211 predictions. Top by Δscore:

Variant	Effect	Δscore
19:19645533:C:CC	acceptor_gain	1.0000
19:19645786:GGGCC:G	acceptor_gain	1.0000
19:19645787:GGCC:G	acceptor_gain	1.0000
19:19645788:GCC:G	acceptor_gain	1.0000
19:19645788:GCCC:G	acceptor_loss	1.0000
19:19645789:CC:C	acceptor_gain	1.0000
19:19645789:CCC:C	acceptor_gain	1.0000
19:19645790:CCTG:C	acceptor_gain	1.0000
19:19645791:C:CA	acceptor_loss	1.0000
19:19645791:C:CC	acceptor_gain	1.0000
19:19645869:CTTA:C	donor_loss	1.0000
19:19645871:TA:T	donor_loss	1.0000
19:19645872:A:AC	donor_gain	1.0000
19:19645872:ACTTT:A	donor_loss	1.0000
19:19645873:C:CG	donor_gain	1.0000
19:19645873:CT:C	donor_gain	1.0000
19:19645873:CTT:C	donor_gain	1.0000
19:19645873:CTTT:C	donor_gain	1.0000
19:19645873:CTTTG:C	donor_gain	1.0000
19:19645982:CTGC:C	acceptor_gain	1.0000
19:19645983:TGC:T	acceptor_gain	1.0000
19:19645984:GC:G	acceptor_gain	1.0000
19:19645985:CC:C	acceptor_gain	1.0000
19:19645986:C:CC	acceptor_gain	1.0000
19:19645986:CT:C	acceptor_loss	1.0000
19:19645989:C:CT	acceptor_gain	1.0000
19:19646200:CTTA:C	donor_loss	1.0000
19:19646202:TAC:T	donor_loss	1.0000
19:19646203:A:AC	donor_gain	1.0000
19:19646203:ACT:A	donor_loss	1.0000

AlphaMissense

7797 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:19647247:A:G	L996P	1.000
19:19647262:A:G	L991P	1.000
19:19647292:A:G	L981P	1.000
19:19647304:C:A	G977V	1.000
19:19647304:C:T	G977D	1.000
19:19647305:C:A	G977C	1.000
19:19647305:C:G	G977R	1.000
19:19647452:G:T	A957E	1.000
19:19649576:C:G	A875P	1.000
19:19649584:A:G	L872P	1.000
19:19649595:G:C	D868E	1.000
19:19649595:G:T	D868E	1.000
19:19649596:T:A	D868V	1.000
19:19649596:T:C	D868G	1.000
19:19649596:T:G	D868A	1.000
19:19649597:C:G	D868H	1.000
19:19649598:G:C	N867K	1.000
19:19649598:G:T	N867K	1.000
19:19649605:C:T	G865D	1.000
19:19649611:C:T	G863E	1.000
19:19649612:C:A	G863W	1.000
19:19649620:A:G	L860P	1.000
19:19651778:T:A	D749V	1.000
19:19651779:C:G	D749H	1.000
19:19654080:A:C	F626L	1.000
19:19654080:A:T	F626L	1.000
19:19654082:A:G	F626L	1.000
19:19655176:T:A	D533V	1.000
19:19655176:T:G	D533A	1.000
19:19655203:G:T	A524D	1.000

dbSNP variants (sampled 300 via entrez): RS1000150060 (19:19650167 C>A,T), RS1000226553 (19:19662930 G>A), RS1000528365 (19:19648010 G>A), RS1000627132 (19:19646442 G>A), RS1000640291 (19:19652884 C>T), RS1000724517 (19:19657671 G>A,C), RS1000731578 (19:19646925 T>G), RS1000946122 (19:19662924 A>T), RS1001449706 (19:19660418 T>G), RS1001680153 (19:19662574 G>A,T), RS1001799155 (19:19656533 A>C,G), RS1001967531 (19:19651469 G>C,T), RS1002087172 (19:19647004 C>G,T), RS1002101009 (19:19662171 G>A,T), RS1002178084 (19:19665608 GAT>G)

Disease associations

OMIM: gene MIM:619118 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): breast ductal adenocarcinoma (MONDO:0005590)

Orphanet (0):

HPO phenotypes

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

GWAS associations

16 associations (top):

Study	Trait	p-value
GCST002671_14	Toenail selenium levels	5.000000e-06
GCST003486_3	Response to fenofibrate (LDL cholesterol levels)	2.000000e-08
GCST004603_196	Platelet count	6.000000e-21
GCST004607_19	Plateletcrit	4.000000e-31
GCST008103_10	Bipolar disorder	1.000000e-09
GCST008115_2	Bipolar I disorder	3.000000e-09
GCST008116_4	Bipolar II disorder	4.000000e-06
GCST010002_52	Refractive error	4.000000e-29
GCST011353_30	Serum alkaline phosphatase levels	8.000000e-11
GCST90002389_402	Lymphocyte percentage of white cells	7.000000e-16
GCST90002398_84	Neutrophil count	9.000000e-20
GCST90002399_232	Neutrophil percentage of white cells	2.000000e-11
GCST90002400_278	Plateletcrit	7.000000e-15
GCST90002400_279	Plateletcrit	2.000000e-36
GCST90002402_626	Platelet count	4.000000e-52
GCST90002407_371	White blood cell count	5.000000e-13

EFO canonical traits (9, from GWAS)

EFO ID	Trait name
EFO:0007804	LDL cholesterol change measurement
EFO:0004309	platelet count
EFO:0007985	platelet crit
EFO:0009963	bipolar I disorder
EFO:0009964	bipolar II disorder
EFO:0004533	alkaline phosphatase measurement
EFO:0007993	lymphocyte percentage of leukocytes
EFO:0004833	neutrophil count
EFO:0007990	neutrophil percentage of leukocytes

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D018270	Carcinoma, Ductal, Breast	C04.557.470.200.025.232.500; C04.557.470.615.132.500; C04.588.180.390; C17.800.090.500.390

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 — P5 P-type ATPases: Mn²⁺-ATPases

CTD chemical–gene interactions

29 total (human), top 29 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases expression, decreases methylation, increases expression	3
Valproic Acid	increases expression, increases methylation	3
Air Pollutants	decreases expression, increases abundance, increases expression	2
Smoke	increases abundance, increases expression, decreases expression	2
aristolochic acid I	increases expression	1
FR900359	decreases phosphorylation	1
dicrotophos	increases expression	1
sodium arsenite	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
bisphenol B	increases expression	1
abrine	increases expression	1
Grape Seed Proanthocyanidins	decreases expression, affects cotreatment	1
bis-N,N-dimethylamino-2-(N-methylpyrrolyl)methyl cyclopentadienyl titanium (IV)	decreases expression	1
Temozolomide	increases expression	1
Acetaminophen	increases expression	1
Benzo(a)pyrene	increases mutagenesis	1
Caffeine	increases phosphorylation	1
Catechin	affects cotreatment, decreases expression	1
Cisplatin	decreases expression	1
Doxorubicin	decreases expression	1
Ivermectin	decreases expression	1
Nickel	increases expression	1
Quercetin	increases expression	1
Ribonucleotides	affects binding	1
Thiram	decreases expression	1
Tretinoin	increases expression	1
Aflatoxin B1	decreases methylation	1
Asbestos, Crocidolite	decreases expression	1
Particulate Matter	decreases expression, increases abundance	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT03414970	PHASE3	ACTIVE_NOT_RECRUITING	Hypofractionated Radiation Therapy After Mastectomy in Preventing Recurrence in Patients With Stage IIa-IIIa Breast Cancer
NCT00461344	PHASE2	TERMINATED	Docetaxel + Doxorubicin as Neoadjuvant Chemotherapy in Patients With Breast Cancer
NCT07499999	PHASE2	NOT_YET_RECRUITING	Randomized Double-Blind Phase II Trial of Baby Exemestane Versus Baby Tamoxifen in Post-Menopausal Women at High Risk for Breast Cancer
NCT00637364	PHASE1/PHASE2	SUSPENDED	High Intensity Focused Ultrasound Tumor Treatment for Pancreatic Cancer Pain
NCT02779855	PHASE1/PHASE2	COMPLETED	Talimogene Laherparepvec in Combination With Neoadjuvant Chemotherapy in Triple Negative Breast Cancer
NCT01753908	EARLY_PHASE1	COMPLETED	Broccoli Sprout Extract in Treating Patients With Breast Cancer
NCT01796041	EARLY_PHASE1	COMPLETED	Intraoperative Imaging of Breast Cancer With Indocyanine Green
NCT01208974	Not specified	ACTIVE_NOT_RECRUITING	Nipple-Areola Complex (NAC) Irradiation After Nipple-Sparing Mastectomy and Reconstruction
NCT01875198	Not specified	TERMINATED	Oncologic Impact of Splenectomy-omitting Radical Pancreatectomy in Well-selected Left-sided Pancreatic Cancer
NCT03543397	Not specified	UNKNOWN	MRI in Ductal Carcinoma in Situ (DCIS)
NCT03834532	Not specified	COMPLETED	Living Well After Breast Surgery