PILRA

Summary

PILRA (paired immunoglobin like type 2 receptor alpha, HGNC:20396) is a protein-coding gene on chromosome 7q22.1, encoding Paired immunoglobulin-like type 2 receptor alpha (Q9UKJ1). Paired receptors consist of highly related activating and inhibitory receptors and are widely involved in the regulation of the immune system.

Cell signaling pathways rely on a dynamic interaction between activating and inhibiting processes. SHP-1-mediated dephosphorylation of protein tyrosine residues is central to the regulation of several cell signaling pathways. Two types of inhibitory receptor superfamily members are immunoreceptor tyrosine-based inhibitory motif (ITIM)-bearing receptors and their non-ITIM-bearing, activating counterparts. Control of cell signaling via SHP-1 is thought to occur through a balance between PILRalpha-mediated inhibition and PILRbeta-mediated activation. These paired immunoglobulin-like receptor genes are located in a tandem head-to-tail orientation on chromosome 7. This particular gene encodes the ITIM-bearing member of the receptor pair, which functions in the inhibitory role. Alternative splicing has been observed at this locus and three variants, each encoding a distinct isoform, are described.

Source: NCBI Gene 29992 — RefSeq curated summary.

At a glance

• GWAS associations: 8
• Clinical variants (ClinVar): 45 total
• MANE Select transcript: NM_013439

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20396
Approved symbol	PILRA
Name	paired immunoglobin like type 2 receptor alpha
Location	7q22.1
Locus type	gene with protein product
Status	Approved
Aliases	FDF03
Ensembl gene	ENSG00000085514
Ensembl biotype	protein_coding
OMIM	605341
Entrez	29992

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 5 protein_coding, 1 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000198536, ENST00000350573, ENST00000394000, ENST00000432297, ENST00000453419, ENST00000474013, ENST00000484934

RefSeq mRNA: 3 — MANE Select: NM_013439 NM_013439, NM_178272, NM_178273

CCDS: CCDS47660, CCDS5691, CCDS5692

Canonical transcript exons

ENST00000198536 — 7 exons

Exon	Start	End
ENSE00000824860	100389888	100390106
ENSE00001054840	100397879	100397912
ENSE00001375401	100373487	100373720
ENSE00001944756	100399785	100400096
ENSE00003630993	100374044	100374433
ENSE00003631920	100399291	100399340
ENSE00003684864	100399581	100399612

Expression profiles

Bgee: expression breadth ubiquitous, 217 present calls, max score 98.20.

FANTOM5 (CAGE): breadth broad, TPM avg 23.4130 / max 1314.9830, expressed in 471 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
79959	14.5127	414
79960	7.3766	331
79961	0.9270	170
79962	0.4226	167
79964	0.1286	69
204542	0.0265	12
79963	0.0191	11

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
monocyte	CL:0000576	98.20	gold quality
granulocyte	CL:0000094	98.07	gold quality
leukocyte	CL:0000738	97.89	gold quality
mononuclear cell	CL:0000842	97.84	gold quality
blood	UBERON:0000178	97.60	gold quality
cerebellar hemisphere	UBERON:0002245	89.84	gold quality
cerebellar cortex	UBERON:0002129	89.75	gold quality
right hemisphere of cerebellum	UBERON:0014890	89.74	gold quality
spleen	UBERON:0002106	88.64	gold quality
cerebellum	UBERON:0002037	88.37	gold quality
bone marrow	UBERON:0002371	87.96	gold quality
right lung	UBERON:0002167	87.86	gold quality
bone marrow cell	CL:0002092	87.26	gold quality
vermiform appendix	UBERON:0001154	87.01	gold quality
upper lobe of left lung	UBERON:0008952	86.82	gold quality
upper lobe of lung	UBERON:0008948	86.34	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	85.83	gold quality
right uterine tube	UBERON:0001302	85.68	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	84.79	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	83.34	gold quality
right coronary artery	UBERON:0001625	83.27	gold quality
decidua	UBERON:0002450	83.23	gold quality
omental fat pad	UBERON:0010414	82.90	gold quality
descending thoracic aorta	UBERON:0002345	82.88	gold quality
peritoneum	UBERON:0002358	82.84	gold quality
caecum	UBERON:0001153	82.76	gold quality
adenohypophysis	UBERON:0002196	82.59	gold quality
right frontal lobe	UBERON:0002810	82.18	gold quality
adipose tissue of abdominal region	UBERON:0007808	82.16	gold quality
left uterine tube	UBERON:0001303	82.09	gold quality

Single-cell (SCXA)

Detected in 11 experiment(s), a significant marker in 10.

Experiment	Marker?	Max mean expression
E-HCAD-4	yes	61.24
E-CURD-122	yes	41.70
E-MTAB-8142	yes	37.35
E-MTAB-9221	yes	26.26
E-CURD-112	yes	26.18
E-MTAB-6678	yes	25.08
E-MTAB-9467	yes	19.17
E-ANND-3	yes	15.51
E-MTAB-8498	yes	12.08
E-MTAB-9801	yes	7.01
E-MTAB-7381	no	234.19

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

9 targeting PILRA, 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-1277-5P	100.00	73.95	5056
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-552-5P	99.93	68.56	1583
HSA-MIR-2053	99.57	69.15	1635
HSA-MIR-4437	99.52	65.29	1266
HSA-MIR-136-5P	99.50	67.26	1153
HSA-MIR-5001-3P	98.91	67.28	1394
HSA-MIR-708-3P	97.50	68.67	1082

Literature-anchored findings (GeneRIF, showing 21)

• PILRalpha protein was successfully crystallized at 293 K using the sitting-drop vapour-diffusion method and the crystals diffracted to 1.3 A resolution. (PMID:18097101)
• The results demonstrate that cellular receptors for both gB and gD are required for HSV-1 infection and that PILRalpha plays an important role in HSV-1 infection as a coreceptor that associates with gB. (PMID:18358807)
• viral entry via PILRalpha appears to be conserved but that there is a PILRalpha preference among alphaherpesviruses (PMID:19244335)
• Insertional mutations of gB reduced cell fusion activity when PILRalpha was overexpressed much more than nectin-1. (PMID:19457990)
• These results suggest that PANP is involved in immune regulation as a ligand of the PILRalpha. (PMID:21241660)
• Data show that PILRalpha/ligand interactions require conserved PILRalpha arginine (Arg)-133 (mouse) and Arg-126 (human). (PMID:22396535)
• The authors show that the human ocular and highly neurovirulent HSV-1 strain McKrae enters substantially more efficiently into cells via the gB-specific human paired immunoglobulin-like type-2 receptor-alpha (hPILR-alpha). (PMID:22695228)
• The amino terminus of herpes simplex virus 1 gK is functionally and physically associated with the gB-PILRalpha protein complex and regulates membrane fusion of the viral envelope with cellular membranes during virus entry. (PMID:23302878)
• These results contribute our knowledge of the biological functions of HBVDNAPTP1 and provide novel data to aid in the further analysis of the regulatory mechanism of this protein. (PMID:24253495)
• We demonstrated that three residues (Y2, R95, and W108) presented on the surface of PILRalpha form the sialic acid binding site equivalent to those in siglecs but are arranged in a unique linear mode. (PMID:24843130)
• PILRalpha exhibits large conformational change to recognize simultaneously both the sTn O-glycan and the compact peptide structure constrained by proline residues (PMID:24889612)
• The interaction of NK cells with PILRalpha expressing targets lead to elevated IFNgamma secretion and cytotoxicity. In conclusion, PILRalpha is a novel NK activating ligand which binds and activates an unknown NK receptor expressed on a unique NK cell subset. (PMID:27029068)
• Data suggest that, although PILRA exhibits essentially the same recognition of different glycopeptides, slight modifications of linker sugar cause significant changes in a wide area of the binding interface, resulting in a reduction of binding affinity; analogs/fragments of gpb were used in these studies. (PILRA = paired immunoglobin like type 2 receptor alpha; gpb = envelope glycoprotein B, Herpes simplex virus type 1) (PMID:29046357)
• Exome-wide burden analysis revealed significant burden of variants in PILRA in patients with late-onset Alzheimer’s disease (PMID:29181857)
• Transcriptome wide association study results identified two novel genes as statistically significantly associated with nonobstructive azoospermia susceptibility: PILRA and ZNF676. (PMID:29202958)
• We propose that PILRA G78R protects individuals from Alzheimer’s disease risk via reduced inhibitory signaling in microglia and reduced microglial infection during HSV-1 recurrence. (PMID:30388101)
• Herpes simplex virus type 1 IgG are increased in Alzheimer’s disease patients with the protective R78 PILRA genotype. (PMID:31297637)
• Inhibitory Fcgamma Receptor and Paired Immunoglobulin Type 2 Receptor Alpha Genotypes in Alzheimer’s Disease. (PMID:34602489)
• The CD8alpha-PILRalpha interaction maintains CD8(+) T cell quiescence. (PMID:35617401)
• PILRA polymorphism modifies the effect of APOE4 and GM17 on Alzheimer’s disease risk. (PMID:35918447)
• New candidate SNPs for genetic association with Alzheimer’s disease: a linkage disequilibrium analysis for the FCGRIIB and PILRA genes. (PMID:38408113)

Cross-species orthologs

0 orthologs

Paralogs (1): PILRB (ENSG00000121716)

Protein

Protein identifiers

Paired immunoglobulin-like type 2 receptor alpha — Q9UKJ1 (reviewed: Q9UKJ1)

Alternative names: Cell surface receptor FDF03, Inhibitory receptor PILR-alpha

All UniProt accessions (3): Q9UKJ1, C9JGG1, C9JJ79

UniProt curated annotations — full annotation on UniProt →

Function. Paired receptors consist of highly related activating and inhibitory receptors and are widely involved in the regulation of the immune system. PILRA is thought to act as a cellular signaling inhibitory receptor by recruiting cytoplasmic phosphatases like PTPN6/SHP-1 and PTPN11/SHP-2 via their SH2 domains that block signal transduction through dephosphorylation of signaling molecules. Receptor for PIANP. (Microbial infection) Acts as an entry co-receptor for herpes simplex virus 1.

Subunit / interactions. Monomer. Interacts with PTPN6/SHP-1 and PTPN11/SHP-2 upon tyrosine phosphorylation. (Microbial infection) Interacts with herpes simplex virus 1 glycoprotein B.

Subcellular location. Cell membrane Cell membrane Secreted Secreted.

Tissue specificity. Predominantly detected in hemopoietic tissues and is expressed by monocytes, macrophages, and granulocytes, but not by lymphocytes. Also strongly expressed by dendritic cells (DC); preferentially by CD14+/CD1a- DC derived from CD34+ progenitors. Also expressed by CD11c+ blood and tonsil DC, but not by CD11c- DC precursors.

Post-translational modifications. According to PubMed:10660620, N- and O-glycosylated. According to PubMed:10903717, only N-glycosylated. Phosphorylated on tyrosine residues.

Domain organisation. Contains 2 copies of a cytoplasmic motif that is referred to as the immunoreceptor tyrosine-based inhibitor motif (ITIM). This motif is involved in modulation of cellular responses. The phosphorylated ITIM motif can bind the SH2 domain of several SH2-containing phosphatases. PTPN6 seems to bind predominantly to the first ITIM motif.

Isoforms (4)

UniProt ID	Names	Canonical?
Q9UKJ1-1	1	yes
Q9UKJ1-2	2
Q9UKJ1-3	3, FDF03-deltaTM
Q9UKJ1-4	4, FDF03-M14

RefSeq proteins (3): NP_038467, NP_840056, NP_840057 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003599	Ig_sub	Domain
IPR007110	Ig-like_dom	Domain
IPR013106	Ig_V-set	Domain
IPR013783	Ig-like_fold	Homologous_superfamily
IPR036179	Ig-like_dom_sf	Homologous_superfamily
IPR051694	Immunoregulatory_rcpt-like	Family

Pfam: PF07686

UniProt features (34 total): strand 10, splice variant 3, sequence conflict 3, turn 3, sequence variant 2, topological domain 2, helix 2, short sequence motif 2, signal peptide 1, chain 1, mutagenesis site 1, transmembrane region 1, domain 1, region of interest 1, glycosylation site 1

Structure

Experimental structures (PDB)

6 structures.

PDB	Method	Resolution (Å)
3WUZ	X-RAY DIFFRACTION	1.3
4NFB	X-RAY DIFFRACTION	1.6
5XOF	X-RAY DIFFRACTION	1.96
5XO2	X-RAY DIFFRACTION	2.2
3WV0	X-RAY DIFFRACTION	2.3
9PD2	X-RAY DIFFRACTION	2.58

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UKJ1-F1	70.28	0.42

Antibody-complex structures (SAbDab): 1 — 9PD2

Functional residue map

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

Glycosylation sites (1): 100

Mutagenesis-validated functional residues (1):

Position	Phenotype
269	greatly diminishes interaction with ptpn6.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-198933	Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell

MSigDB gene sets: 172 (showing top): GSE45365_NK_CELL_VS_CD11B_DC_DN, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, MARTINEZ_RB1_TARGETS_DN, BLALOCK_ALZHEIMERS_DISEASE_UP, GNF2_S100A4, JAZAG_TGFB1_SIGNALING_VIA_SMAD4_UP, GNF2_HCK, DODD_NASOPHARYNGEAL_CARCINOMA_UP, VALK_AML_CLUSTER_5, GOMF_SIGNALING_RECEPTOR_BINDING, MARTINEZ_RB1_AND_TP53_TARGETS_UP, PETRETTO_HEART_MASS_QTL_CIS_UP, TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_GRANULOCYTE_DN, MULLIGHAN_MLL_SIGNATURE_1_UP, MGGAAGTG_GABP_B

GO Biological Process (1): signal transduction (GO:0007165)

GO Molecular Function (2): MHC class I protein binding (GO:0042288), protein binding (GO:0005515)

GO Cellular Component (4): plasma membrane (GO:0005886), extracellular exosome (GO:0070062), extracellular region (GO:0005576), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Adaptive Immune System	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
MHC protein binding	1
binding	1
membrane	1
cell periphery	1
extracellular vesicle	1

Protein interactions and networks

STRING

908 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PILRA	CD99L2	Q8TCZ2	968
PILRA	CD99	P14209	919
PILRA	GYPC	P04921	878
PILRA	LAIR1	Q6GTX8	825
PILRA	TNFRSF14	Q92956	818
PILRA	PTPN11	Q06124	774
PILRA	MAG	P20916	683
PILRA	KLRG1	Q96E93	682
PILRA	LILRB1	Q8NHL6	666
PILRA	NECTIN1	Q15223	646
PILRA	PIANP	Q8IYJ0	601
PILRA	CD300C	Q08708	593
PILRA	PILRB	Q9UKJ0	584
PILRA	ZCWPW1	Q9H0M4	574
PILRA	NECTIN2	Q92692	543

IntAct

44 interactions, top by confidence:

A	B	Type	Score
PILRA	NPDC1	psi-mi:“MI:0915”(physical association)	0.670
NPDC1	PILRA	psi-mi:“MI:0407”(direct interaction)	0.670
gB	PILRA	psi-mi:“MI:0915”(physical association)	0.580
PILRA	gB	psi-mi:“MI:0915”(physical association)	0.580
PTPN6	PILRA	psi-mi:“MI:0915”(physical association)	0.580
COLEC12	PILRA	psi-mi:“MI:0407”(direct interaction)	0.440
Cd99	PILRA	psi-mi:“MI:0407”(direct interaction)	0.440
PILRA	UL27	psi-mi:“MI:0915”(physical association)	0.400
PILRA	PIANP	psi-mi:“MI:0915”(physical association)	0.400
PILRA	SORCS1	psi-mi:“MI:0915”(physical association)	0.400
PILRA	APLP1	psi-mi:“MI:0915”(physical association)	0.400
PILRA	C4A	psi-mi:“MI:0915”(physical association)	0.400
PILRA	LILRB2	psi-mi:“MI:0915”(physical association)	0.400
FCAMR	PILRA	psi-mi:“MI:0915”(physical association)	0.400
FCGR1A	PILRA	psi-mi:“MI:0915”(physical association)	0.400
LILRA3	PILRA	psi-mi:“MI:0915”(physical association)	0.400
PILRA	MXRA5	psi-mi:“MI:0915”(physical association)	0.400
LILRB2	PILRA	psi-mi:“MI:0915”(physical association)	0.400
BTN3A2	PILRA	psi-mi:“MI:0915”(physical association)	0.400
PILRA	GP6	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (43): KIAA0319L (Affinity Capture-MS), PODXL (Affinity Capture-MS), NID2 (Affinity Capture-MS), TRIM68 (Affinity Capture-MS), SAR1B (Affinity Capture-MS), LRRTM4 (Affinity Capture-MS), B4GALNT3 (Affinity Capture-MS), B4GALNT4 (Affinity Capture-MS), LAMA4 (Affinity Capture-MS), PILRB (Affinity Capture-MS), B4GALNT4 (Affinity Capture-MS), NID2 (Affinity Capture-MS), PILRB (Affinity Capture-MS), TRIM68 (Affinity Capture-MS), LAMA4 (Affinity Capture-MS)

ESM2 similar proteins: A6NJW9, O02757, P01730, P01731, P01732, P05541, P07725, P09793, P0DSE1, P10300, P10747, P10966, P15530, P16003, P16004, P16410, P30433, P30434, P31041, P31042, P31043, P31783, P33705, P33706, P40259, P41688, P42069, P42072, P50283, P79184, P79336, Q08338, Q08340, Q28071, Q2YFS1, Q2YFS2, Q2YFS3, Q3LRV9, Q495A1, Q5JXA9

Diamond homologs: Q2YFS1, Q2YFS2, Q2YFS3, Q9UKJ0, Q9UKJ1

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 26 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
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell	9	41.3×	1e-11
Adaptive Immune System	6	9.4×	7e-04

GO biological processes:

GO term	Partners	Fold	FDR
immune response-regulating signaling pathway	5	108.4×	1e-07
adaptive immune response	5	20.1×	2e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	31
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

795 predictions. Top by Δscore:

Variant	Effect	Δscore
7:100373716:GCCTA:G	donor_gain	1.0000
7:100374432:GG:G	donor_gain	1.0000
7:100374433:GG:G	donor_gain	1.0000
7:100397876:CAGGT:C	acceptor_loss	1.0000
7:100397878:G:GA	acceptor_loss	1.0000
7:100399278:T:TA	acceptor_gain	1.0000
7:100399285:A:AG	acceptor_gain	1.0000
7:100399286:T:G	acceptor_gain	1.0000
7:100399287:A:AG	acceptor_gain	1.0000
7:100399287:ACAG:A	acceptor_gain	1.0000
7:100399287:ACAGG:A	acceptor_gain	1.0000
7:100399288:C:G	acceptor_gain	1.0000
7:100399288:CAGG:C	acceptor_loss	1.0000
7:100399289:A:AG	acceptor_gain	1.0000
7:100399289:AG:A	acceptor_gain	1.0000
7:100399289:AGG:A	acceptor_gain	1.0000
7:100399290:G:GC	acceptor_gain	1.0000
7:100399290:GG:G	acceptor_gain	1.0000
7:100399290:GGG:G	acceptor_gain	1.0000
7:100399290:GGGA:G	acceptor_gain	1.0000
7:100399290:GGGAA:G	acceptor_gain	1.0000
7:100399337:GAAG:G	donor_gain	1.0000
7:100399338:AAGG:A	donor_loss	1.0000
7:100399339:AGGT:A	donor_loss	1.0000
7:100399340:GGTG:G	donor_loss	1.0000
7:100399341:G:A	donor_loss	1.0000
7:100399341:G:GG	donor_gain	1.0000
7:100399771:G:A	acceptor_gain	1.0000
7:100373721:G:GG	donor_gain	0.9900
7:100374431:AGGG:A	donor_loss	0.9900

AlphaMissense

1948 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:100374136:T:C	F53L	0.967
7:100374138:C:A	F53L	0.967
7:100374138:C:G	F53L	0.967
7:100374314:T:C	I112T	0.963
7:100374349:T:C	F124L	0.963
7:100374351:C:A	F124L	0.963
7:100374351:C:G	F124L	0.963
7:100374142:T:C	F55L	0.957
7:100374144:C:A	F55L	0.957
7:100374144:C:G	F55L	0.957
7:100374131:T:C	I51T	0.953
7:100374190:T:A	W71R	0.939
7:100374190:T:C	W71R	0.939
7:100374185:T:C	I69T	0.920
7:100374205:T:C	F76L	0.908
7:100374207:C:A	F76L	0.908
7:100374207:C:G	F76L	0.908
7:100374192:G:C	W71C	0.902
7:100374192:G:T	W71C	0.902
7:100374282:G:C	W101C	0.898
7:100374282:G:T	W101C	0.898
7:100374220:T:C	F81L	0.895
7:100374222:C:A	F81L	0.895
7:100374222:C:G	F81L	0.895
7:100374280:T:A	W101R	0.894
7:100374280:T:C	W101R	0.894
7:100374314:T:G	I112S	0.894
7:100374409:G:T	G144W	0.876
7:100374336:C:A	D119E	0.870
7:100374336:C:G	D119E	0.870

dbSNP variants (sampled 300 via entrez): RS1000039701 (7:100384295 A>G), RS1000274849 (7:100372887 G>A), RS1000469471 (7:100392041 G>A), RS1000511546 (7:100386370 G>A), RS1000569901 (7:100394877 AG>A), RS1000579468 (7:100380391 C>T), RS1000682657 (7:100371121 A>G), RS1000893457 (7:100378557 G>T), RS1001075755 (7:100393932 G>A,C), RS1001282396 (7:100371351 G>T), RS1001313425 (7:100371111 A>G), RS1001501443 (7:100376832 GCTTA>G), RS1001527487 (7:100381836 C>A), RS1001532090 (7:100393689 G>A), RS1001563381 (7:100393283 CAA>C,CA,CAAA)

Disease associations

OMIM: gene MIM:605341 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

8 associations (top):

Study	Trait	p-value
GCST003219_48	Advanced age-related macular degeneration	5.000000e-09
GCST006585_438	Blood protein levels	0.000000e+00
GCST006585_493	Blood protein levels	0.000000e+00
GCST010002_259	Refractive error	3.000000e-16
GCST010702_48	Subcortical volume (MOSTest)	6.000000e-10
GCST010703_289	Brain morphology (MOSTest)	6.000000e-15
GCST010796_3292	Electrocardiogram morphology (amplitude at temporal datapoints)	4.000000e-08
GCST90002404_296	Red cell distribution width	3.000000e-14

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:1001492	atrophic macular degeneration
EFO:0004346	neuroimaging measurement
EFO:0004327	electrocardiography
EFO:0009188	Red cell distribution width

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	decreases expression, affects cotreatment, increases abundance	2
Benzo(a)pyrene	affects methylation, decreases expression	2
aristolochic acid I	increases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases expression	1
sulforaphane	increases expression	1
tobacco tar	decreases expression, decreases reaction	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	1
potassium chromate(VI)	increases expression	1
diallyl disulfide	decreases expression, decreases reaction	1
ferrous chloride	decreases expression	1
nickel sulfate	increases expression	1
allyl sulfide	decreases expression, decreases reaction	1
di-n-butylphosphoric acid	affects expression	1
chromium hexavalent ion	increases expression	1
abrine	increases expression	1
licochalcone B	increases expression	1
bisphenol S	affects cotreatment, decreases expression	1
jinfukang	affects cotreatment, decreases expression	1
(+)-JQ1 compound	decreases expression	1
Zoledronic Acid	increases expression	1
Acetaminophen	increases expression	1
Arsenic	affects cotreatment, decreases expression, increases abundance	1
Azathioprine	decreases expression	1
Cisplatin	affects cotreatment, decreases expression	1
Demecolcine	increases expression	1
Dexamethasone	decreases expression, affects cotreatment	1
Diazinon	decreases methylation	1
Formaldehyde	increases expression	1
Indomethacin	affects cotreatment, decreases expression	1

Clinical trials (associated diseases)

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