PJA2

Summary

PJA2 (praja ring finger ubiquitin ligase 2, HGNC:17481) is a protein-coding gene on chromosome 5q21.3, encoding E3 ubiquitin-protein ligase Praja-2 (O43164). Has E2-dependent E3 ubiquitin-protein ligase activity.

Enables protein kinase A catalytic subunit binding activity; protein kinase A regulatory subunit binding activity; and ubiquitin protein ligase activity. Involved in several processes, including proteasome-mediated ubiquitin-dependent protein catabolic process; regulation of macrophage activation; and regulation of signal transduction. Located in centriolar satellite; cytoplasm; and plasma membrane.

Source: NCBI Gene 9867 — RefSeq curated summary.

At a glance

• GWAS associations: 7
• Clinical variants (ClinVar): 117 total
• MANE Select transcript: NM_014819

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17481
Approved symbol	PJA2
Name	praja ring finger ubiquitin ligase 2
Location	5q21.3
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0438, Neurodap1, PRAJA2
Ensembl gene	ENSG00000198961
Ensembl biotype	protein_coding
OMIM	619341
Entrez	9867

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 11 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000361189, ENST00000361557, ENST00000512822, ENST00000881292, ENST00000881293, ENST00000881294, ENST00000881295, ENST00000922494, ENST00000922495, ENST00000946044, ENST00000946045, ENST00000946046

RefSeq mRNA: 1 — MANE Select: NM_014819 NM_014819

CCDS: CCDS4099

Canonical transcript exons

ENST00000361189 — 10 exons

Exon	Start	End
ENSE00000759856	109344190	109344311
ENSE00000759857	109344705	109344819
ENSE00000759860	109368561	109368746
ENSE00000759861	109378204	109379254
ENSE00000972081	109362840	109363022
ENSE00000972082	109355915	109356026
ENSE00001381127	109409842	109409974
ENSE00001482294	109334722	109337356
ENSE00002307544	109383403	109383520
ENSE00003621528	109381503	109381703

Expression profiles

Bgee: expression breadth ubiquitous, 294 present calls, max score 99.10.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 32.3991 / max 1406.6542, expressed in 1799 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
62900	19.1487	1768
62902	10.7983	1692
62901	0.8034	429
62898	0.7978	339
62897	0.6316	280
62896	0.2193	109

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cortical plate	UBERON:0005343	99.10	gold quality
cauda epididymis	UBERON:0004360	98.94	gold quality
postcentral gyrus	UBERON:0002581	98.90	gold quality
parietal lobe	UBERON:0001872	98.88	gold quality
frontal pole	UBERON:0002795	98.82	gold quality
calcaneal tendon	UBERON:0003701	98.75	gold quality
Brodmann (1909) area 46	UBERON:0006483	98.65	gold quality
prefrontal cortex	UBERON:0000451	98.58	gold quality
orbitofrontal cortex	UBERON:0004167	98.58	gold quality
pons	UBERON:0000988	98.57	gold quality
caput epididymis	UBERON:0004358	98.55	gold quality
superior vestibular nucleus	UBERON:0007227	98.52	gold quality
Brodmann (1909) area 10	UBERON:0013541	98.49	gold quality
entorhinal cortex	UBERON:0002728	98.43	gold quality
superior frontal gyrus	UBERON:0002661	98.40	gold quality
corpus epididymis	UBERON:0004359	98.35	gold quality
middle frontal gyrus	UBERON:0002702	98.30	gold quality
superficial temporal artery	UBERON:0001614	98.23	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	98.23	gold quality
corpus callosum	UBERON:0002336	98.19	gold quality
Brodmann (1909) area 9	UBERON:0013540	98.12	gold quality
cranial nerve II	UBERON:0000941	98.02	gold quality
dorsal root ganglion	UBERON:0000044	97.96	gold quality
trigeminal ganglion	UBERON:0001675	97.84	gold quality
cerebral cortex	UBERON:0000956	97.82	gold quality
CA1 field of hippocampus	UBERON:0003881	97.82	gold quality
frontal cortex	UBERON:0001870	97.81	gold quality
neocortex	UBERON:0001950	97.71	gold quality
telencephalon	UBERON:0001893	97.63	gold quality
substantia nigra pars compacta	UBERON:0001965	97.63	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-HCAD-35	yes	39.38
E-ANND-3	yes	9.31

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): TP63

miRNA regulators (miRDB)

193 targeting PJA2, 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-5011-5P	100.00	83.46	5820
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-3064-3P	100.00	70.09	1254
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-6798-5P	100.00	65.77	699
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-33A-5P	99.99	68.62	1055
HSA-MIR-33B-5P	99.99	68.58	1062
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-3617-3P	99.98	67.86	918
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-4789-5P	99.98	70.76	2721

Literature-anchored findings (GeneRIF, showing 8)

• praja2 is a novel cancer-related gene whose expression is linked to the histotype and mutational status of the thyroid tumor. (PMID:22948757)
• The RING ligase praja2 ubiquitylates and degrades Mob, a core component of NDR/LATS kinase and a positive regulator of the tumour-suppressor Hippo cascade. (PMID:23652010)
• Detection of PJA2-FER fusion mRNA is correlated with poor postoperative survival periods in non-small cell lung cancer. (PMID:23931849)
• praja2 regulates KSR1 stability and mitogenic signaling. (PMID:27195677)
• Proper ubiquitin chain assembly by PJA2 requires that Tat first binds its P-TEFb cofactor. (PMID:28345603)
• Praja2 suppresses the growth of gastric cancer by ubiquitylation of KSR1 and inhibiting MEK-ERK signal pathways. (PMID:33461174)
• Downregulation of praja2 restrains endocytosis and boosts tyrosine kinase receptors in kidney cancer. (PMID:38379085)
• Proximal protein landscapes of the type I interferon signaling cascade reveal negative regulation by PJA2. (PMID:38802340)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	pja2	ENSDARG00000100296
mus_musculus	Pja2	ENSMUSG00000024083
rattus_norvegicus	Pja2	ENSRNOG00000015528

Paralogs (1): PJA1 (ENSG00000181191)

Protein

Protein identifiers

E3 ubiquitin-protein ligase Praja-2 — O43164 (reviewed: O43164)

Alternative names: RING finger protein 131, RING-type E3 ubiquitin transferase Praja-2

All UniProt accessions (1): O43164

UniProt curated annotations — full annotation on UniProt →

Function. Has E2-dependent E3 ubiquitin-protein ligase activity. Responsible for ubiquitination of cAMP-dependent protein kinase type I and type II-alpha/beta regulatory subunits and for targeting them for proteasomal degradation. Essential for PKA-mediated long-term memory processes. Through the ubiquitination of MFHAS1, positively regulates the TLR2 signaling pathway that leads to the activation of the downstream p38 and JNK MAP kinases and promotes the polarization of macrophages toward the pro-inflammatory M1 phenotype. Plays a role in ciliogenesis by ubiquitinating OFD1.

Subunit / interactions. Binds ubiquitin-conjugating enzymes (E2s). In vitro, interacts with the ubiquitin-conjugating enzyme, UBE2D2. The phosphorylated form interacts with PRKAR1A, PRKAR2A and PRKAR2B. Binds the catalytic subunits of cAMP-dependent protein kinase. Interacts with MFHAS1. Interacts with TBC1D31; the interaction is direct and recruits PJA2 to centrosomes.

Subcellular location. Cytoplasm. Cell membrane. Endoplasmic reticulum membrane. Golgi apparatus membrane. Synapse. Postsynaptic density. Cytoskeleton. Microtubule organizing center. Centrosome.

Pathway. Protein modification; protein ubiquitination.

Isoforms (2)

UniProt ID	Names	Canonical?
O43164-1	1	yes
O43164-2	2

RefSeq proteins (1): NP_055634* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001841	Znf_RING	Domain
IPR013083	Znf_RING/FYVE/PHD	Homologous_superfamily

Pfam: PF13639

UniProt features (29 total): modified residue 9, region of interest 7, compositionally biased region 6, sequence variant 3, initiator methionine 1, chain 1, zinc finger region 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O43164-F1	48.16	0.04

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 (9): 2, 196, 246, 253, 309, 323, 342, 389, 432

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-983168	Antigen processing: Ubiquitination & Proteasome degradation

MSigDB gene sets: 277 (showing top): GOBP_MEMORY, GOBP_REGULATION_OF_CELL_ACTIVATION, GOBP_COGNITION, GOBP_BEHAVIOR, GCM_GSPT1, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, GOBP_INFLAMMATORY_RESPONSE, REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION, REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_REGULATION_OF_MACROPHAGE_ACTIVATION, GOBP_POSITIVE_REGULATION_OF_MAPK_CASCADE, CAGCTG_AP4_Q5, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_POSITIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS

GO Biological Process (10): inflammatory response (GO:0006954), long-term memory (GO:0007616), obsolete regulation of protein kinase A signaling (GO:0010738), protein ubiquitination (GO:0016567), positive regulation of toll-like receptor 2 signaling pathway (GO:0034137), regulation of macrophage activation (GO:0043030), proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161), innate immune response (GO:0045087), positive regulation of JNK cascade (GO:0046330), positive regulation of p38MAPK cascade (GO:1900745)

GO Molecular Function (8): ubiquitin-protein transferase activity (GO:0004842), zinc ion binding (GO:0008270), protein kinase A catalytic subunit binding (GO:0034236), protein kinase A regulatory subunit binding (GO:0034237), ubiquitin protein ligase activity (GO:0061630), protein binding (GO:0005515), transferase activity (GO:0016740), metal ion binding (GO:0046872)

GO Cellular Component (14): Golgi membrane (GO:0000139), cytoplasm (GO:0005737), endoplasmic reticulum membrane (GO:0005789), centrosome (GO:0005813), plasma membrane (GO:0005886), postsynaptic density (GO:0014069), centriolar satellite (GO:0034451), ciliary basal body (GO:0036064), glutamatergic synapse (GO:0098978), endoplasmic reticulum (GO:0005783), Golgi apparatus (GO:0005794), cytoskeleton (GO:0005856), membrane (GO:0016020), synapse (GO:0045202)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Class I MHC mediated antigen processing & presentation	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
positive regulation of MAPK cascade	2
protein kinase A binding	2
microtubule organizing center	2
cytoplasm	2
endomembrane system	2
intracellular membrane-bounded organelle	2
defense response	1
memory	1
protein modification by small protein conjugation	1
toll-like receptor 2 signaling pathway	1
regulation of toll-like receptor 2 signaling pathway	1
positive regulation of pattern recognition receptor signaling pathway	1
regulation of leukocyte activation	1
macrophage activation	1
ubiquitin-dependent protein catabolic process	1
proteasomal protein catabolic process	1
immune response	1
defense response to symbiont	1
JNK cascade	1
regulation of JNK cascade	1
p38MAPK cascade	1
regulation of p38MAPK cascade	1
ubiquitin-like protein transferase activity	1
transition metal ion binding	1
protein kinase binding	1
ubiquitin-protein transferase activity	1
ubiquitin-like protein ligase activity	1
binding	1
catalytic activity	1
cation binding	1
Golgi apparatus	1
bounding membrane of organelle	1
intracellular anatomical structure	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
centriole	1
membrane	1
cell periphery	1

Protein interactions and networks

STRING

1490 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PJA2	MAGED1	Q9Y5V3	718
PJA2	MFHAS1	Q9Y4C4	646
PJA2	UBE2D2	P51669	560
PJA2	CDK5R1	Q15078	549
PJA2	UBE2H	P37286	546
PJA2	SIK2	Q9H0K1	541
PJA2	PRKACA	P17612	538
PJA2	PRKACG	P22612	526
PJA2	PRKACB	P22694	525
PJA2	LRRC47	Q8N1G4	487
PJA2	TRIP12	Q14669	484
PJA2	NDN	Q99608	484
PJA2	FERMT2	Q96AC1	469
PJA2	UBE2K	P27924	455
PJA2	DNAJC16	Q9Y2G8	449

IntAct

83 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
KSR2	POLR3A	psi-mi:“MI:0914”(association)	0.530
FAF2	PJA2	psi-mi:“MI:0914”(association)	0.530
ARRDC4	WWP2	psi-mi:“MI:0914”(association)	0.530
SPSB2	ARHGEF10	psi-mi:“MI:0914”(association)	0.530
SPSB4	ARHGEF10	psi-mi:“MI:0914”(association)	0.530
Cdk5r1	PJA2	psi-mi:“MI:0915”(physical association)	0.400
PRKAR2A	PJA2	psi-mi:“MI:0915”(physical association)	0.400
PJA2	UBE2D1	psi-mi:“MI:0915”(physical association)	0.370
UBE2D2	PJA2	psi-mi:“MI:0915”(physical association)	0.370
PJA2	UBE2D3	psi-mi:“MI:0915”(physical association)	0.370
PJA2	UBE2D4	psi-mi:“MI:0915”(physical association)	0.370
UBE2J1	PJA2	psi-mi:“MI:0915”(physical association)	0.370
UBE2L6	PJA2	psi-mi:“MI:0915”(physical association)	0.370
PJA2	UBE2N	psi-mi:“MI:0915”(physical association)	0.370
PJA2	UBE2W	psi-mi:“MI:0915”(physical association)	0.370
Xpo1	IFT56	psi-mi:“MI:0914”(association)	0.350
	PGRMC1	psi-mi:“MI:0914”(association)	0.350
	VWA8	psi-mi:“MI:0914”(association)	0.350
BVLF1	VWA8	psi-mi:“MI:0914”(association)	0.350
BFRF1A	SHTN1	psi-mi:“MI:0914”(association)	0.350
EGLN3	FAM168B	psi-mi:“MI:0914”(association)	0.350
RIPK4	VWA8	psi-mi:“MI:0914”(association)	0.350

BioGRID (214): PRKAR1A (Biochemical Activity), PRKAR2A (Biochemical Activity), UBE2D3 (Reconstituted Complex), PJA2 (Biochemical Activity), PJA2 (Affinity Capture-MS), PJA2 (Affinity Capture-RNA), PJA2 (Proximity Label-MS), PJA2 (Affinity Capture-MS), PJA2 (Affinity Capture-MS), PJA2 (Affinity Capture-MS), PJA2 (Affinity Capture-MS), PJA2 (Affinity Capture-MS), PJA2 (Affinity Capture-MS), KSR1 (Affinity Capture-Western), KSR1 (Reconstituted Complex)

ESM2 similar proteins: B3P773, B4HGK2, B4QT24, B8YIE8, F4I096, F4INW9, F4K1J4, O43164, O55176, O55777, P0C035, P0C1C6, P0C1C7, P53768, P70537, P70675, Q09382, Q2LAE1, Q3KQW6, Q4V7J0, Q5E9A0, Q5QNA6, Q5R4R1, Q5U2Y8, Q5XPJ6, Q63364, Q703I1, Q766Z3, Q80U04, Q80U59, Q84TX2, Q86UW6, Q8IYI0, Q8LFU0, Q8LFY8, Q8NG27, Q8TEP8, Q92628, Q94FL9, Q95RV2

Diamond homologs: O43164, O49691, O55176, O64763, O82353, P0C035, P0CH01, P0CH02, P0CH03, P38239, P87139, P93823, Q0II22, Q0WPW5, Q14B02, Q2HIJ8, Q3T0W3, Q570X5, Q5M974, Q5R4R1, Q63364, Q6AXU4, Q6AY01, Q6GPV5, Q6NKR1, Q7ZW78, Q80U04, Q84TF5, Q8GT74, Q8GT75, Q8GXF8, Q8NG27, Q8RXD3, Q8WVZ7, Q91YL2, Q94AK4, Q95K04, Q9BV68, Q9C1X4, Q9C7I1

SIGNOR signaling

9 interactions.

A	Effect	B	Mechanism
Ub:E2	“up-regulates activity”	PJA2	ubiquitination
PJA2	“down-regulates quantity by destabilization”	PRKAR1A	polyubiquitination
PJA2	“down-regulates quantity by destabilization”	PRKAR2A	polyubiquitination
PJA2	“down-regulates quantity by destabilization”	PRKAR1B	polyubiquitination
PJA2	“down-regulates quantity by destabilization”	PRKAR2B	polyubiquitination
PJA2	“up-regulates activity”	MFHAS1	ubiquitination
PRKACA	“up-regulates activity”	PJA2	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 100 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
Antigen processing: Ubiquitination & Proteasome degradation	12	6.8×	7e-05
Membrane Trafficking	9	5.1×	4e-03
Vesicle-mediated transport	9	4.8×	5e-03

GO biological processes:

GO term	Partners	Fold	FDR
positive regulation of protein ubiquitination	5	12.4×	6e-03
Ras protein signal transduction	5	11.9×	6e-03
protein polyubiquitination	8	10.7×	2e-04
proteasome-mediated ubiquitin-dependent protein catabolic process	15	9.1×	5e-08
ubiquitin-dependent protein catabolic process	10	8.6×	8e-05
protein ubiquitination	11	5.3×	1e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	96
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1711 predictions. Top by Δscore:

Variant	Effect	Δscore
5:109337357:C:CC	acceptor_gain	1.0000
5:109344309:TAG:T	acceptor_gain	1.0000
5:109344703:A:AC	donor_gain	1.0000
5:109344703:ACC:A	donor_loss	1.0000
5:109344704:C:CC	donor_gain	1.0000
5:109344752:T:A	donor_gain	1.0000
5:109344815:GCAGT:G	acceptor_gain	1.0000
5:109344816:CAGT:C	acceptor_gain	1.0000
5:109344816:CAGTC:C	acceptor_gain	1.0000
5:109344817:AGT:A	acceptor_gain	1.0000
5:109344818:GT:G	acceptor_gain	1.0000
5:109344819:TCTG:T	acceptor_loss	1.0000
5:109344820:C:CC	acceptor_gain	1.0000
5:109344820:C:G	acceptor_loss	1.0000
5:109344821:T:A	acceptor_loss	1.0000
5:109355910:CATA:C	donor_loss	1.0000
5:109355911:ATACC:A	donor_loss	1.0000
5:109355912:TA:T	donor_loss	1.0000
5:109355913:A:AC	donor_gain	1.0000
5:109355913:ACCT:A	donor_gain	1.0000
5:109355914:C:CA	donor_loss	1.0000
5:109355914:C:CC	donor_gain	1.0000
5:109355914:CCT:C	donor_gain	1.0000
5:109355914:CCTC:C	donor_gain	1.0000
5:109355916:T:TA	donor_gain	1.0000
5:109356023:TAGG:T	acceptor_gain	1.0000
5:109356027:C:CC	acceptor_gain	1.0000
5:109362835:CATA:C	donor_loss	1.0000
5:109362837:TACCT:T	donor_loss	1.0000
5:109362838:ACCT:A	donor_gain	1.0000

AlphaMissense

4726 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:109337335:G:T	R675S	1.000
5:109337336:G:C	C674W	1.000
5:109337337:C:G	C674S	1.000
5:109337337:C:T	C674Y	1.000
5:109337338:A:G	C674R	1.000
5:109337338:A:T	C674S	1.000
5:109337343:G:C	P672R	1.000
5:109337343:G:T	P672H	1.000
5:109337344:G:A	P672S	1.000
5:109337345:G:C	C671W	1.000
5:109337346:C:A	C671F	1.000
5:109337346:C:G	C671S	1.000
5:109337346:C:T	C671Y	1.000
5:109337347:A:C	C671G	1.000
5:109337347:A:G	C671R	1.000
5:109337347:A:T	C671S	1.000
5:109337352:C:T	G669E	1.000
5:109337356:A:G	S668P	1.000
5:109344197:A:G	L665P	1.000
5:109344197:A:T	L665Q	1.000
5:109344199:C:A	W664C	1.000
5:109344199:C:G	W664C	1.000
5:109344200:C:G	W664S	1.000
5:109344201:A:C	W664G	1.000
5:109344201:A:G	W664R	1.000
5:109344201:A:T	W664R	1.000
5:109344209:A:T	V661D	1.000
5:109344211:A:C	C660W	1.000
5:109344212:C:A	C660F	1.000
5:109344212:C:G	C660S	1.000

dbSNP variants (sampled 300 via entrez): RS1000005311 (5:109335055 A>G,T), RS1000053205 (5:109410943 C>A), RS1000065359 (5:109335532 CCAGT>C), RS1000091196 (5:109364170 C>A,T), RS1000131894 (5:109365829 A>G), RS1000162242 (5:109382864 T>A,G), RS1000179750 (5:109385446 G>A,T), RS1000204081 (5:109395764 C>T), RS1000263675 (5:109354177 G>A), RS1000277780 (5:109343513 T>C), RS1000289645 (5:109391861 A>G), RS1000322100 (5:109352697 T>C), RS1000421876 (5:109398526 C>G), RS1000429159 (5:109346280 C>A,G), RS1000439373 (5:109386195 T>A,C)

Disease associations

OMIM: gene MIM:619341 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

7 associations (top):

Study	Trait	p-value
GCST006148_2	Frontotemporal dementia with GRN mutation	4.000000e-06
GCST006979_115	Heel bone mineral density	3.000000e-15
GCST008129_16	Body mass index	2.000000e-10
GCST010241_338	Apolipoprotein A1 levels	4.000000e-08
GCST010242_212	HDL cholesterol levels	7.000000e-09
GCST012048_3	Triglyceride levels	6.000000e-08
GCST012048_4	Triglyceride levels	3.000000e-07

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0009270	heel bone mineral density
EFO:0004340	body mass index
EFO:0004614	apolipoprotein A 1 measurement
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0004530	triglyceride measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects expression, decreases expression, increases expression	3
Cadmium Chloride	increases abundance, increases expression	3
Tunicamycin	increases expression	2
Cyclosporine	increases expression	2
Aflatoxin B1	decreases methylation	2
aristolochic acid I	decreases expression	1
FR900359	decreases phosphorylation	1
dicrotophos	decreases expression	1
methylselenic acid	increases expression	1
arsenite	affects binding, decreases reaction	1
zinc chromate	increases abundance, increases expression	1
aflatoxin B2	decreases methylation	1
methacrylaldehyde	affects cotreatment, increases oxidation	1
di-n-butylphosphoric acid	affects expression	1
chromium hexavalent ion	increases abundance, increases expression	1
chloropicrin	increases expression	1
K 7174	increases expression	1
(+)-JQ1 compound	increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Leflunomide	increases expression	1
Gemcitabine	increases expression	1
Acrolein	affects cotreatment, increases oxidation	1
Air Pollutants	increases abundance, decreases expression	1
Cadmium	increases abundance, increases expression	1
Caffeine	decreases phosphorylation	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Hydrogen Peroxide	affects expression	1
Indomethacin	decreases expression	1
Ozone	increases oxidation, affects cotreatment	1
Plant Extracts	affects cotreatment, increases expression	1

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_D9NL	Ubigene HEK293 PJA2 KO	Transformed cell line	Female

Clinical trials (associated diseases)

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