PURG

Summary

PURG (purine rich element binding protein G, HGNC:17930) is a protein-coding gene on chromosome 8p12, encoding Purine-rich element-binding protein gamma (Q9UJV8).

The exact function of this gene is not known, however, its encoded product is highly similar to purine-rich element binding protein A. The latter is a DNA-binding protein which binds preferentially to the single strand of the purine-rich element termed PUR, and has been implicated in the control of both DNA replication and transcription. This gene lies in close proximity to the Werner syndrome gene, but on the opposite strand, on chromosome 8p11.

Source: NCBI Gene 29942 — RefSeq curated summary.

At a glance

• GWAS associations: 13
• Clinical variants (ClinVar): 45 total
• MANE Select transcript: NM_001323311

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17930
Approved symbol	PURG
Name	purine rich element binding protein G
Location	8p12
Locus type	gene with protein product
Status	Approved
Aliases	PURG-A, PURG-B
Ensembl gene	ENSG00000172733
Ensembl biotype	protein_coding
OMIM	618041
Entrez	29942

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000339382, ENST00000475541, ENST00000523392

RefSeq mRNA: 4 — MANE Select: NM_001323311 NM_001015508, NM_001323311, NM_001323312, NM_013357

CCDS: CCDS34878, CCDS6081

Canonical transcript exons

ENST00000523392 — 2 exons

Exon	Start	End
ENSE00002095643	31033078	31033356
ENSE00002102347	31030850	31032788

Expression profiles

Bgee: expression breadth ubiquitous, 173 present calls, max score 95.26.

FANTOM5 (CAGE): breadth broad, TPM avg 1.1146 / max 39.1747, expressed in 403 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
92645	1.1146	403

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sperm	CL:0000019	95.26	gold quality
middle temporal gyrus	UBERON:0002771	94.88	gold quality
Brodmann (1909) area 23	UBERON:0013554	94.63	gold quality
endothelial cell	CL:0000115	93.29	silver quality
cerebellar vermis	UBERON:0004720	91.41	gold quality
male germ cell	CL:0000015	91.34	gold quality
entorhinal cortex	UBERON:0002728	87.22	gold quality
postcentral gyrus	UBERON:0002581	86.46	gold quality
medial globus pallidus	UBERON:0002477	86.11	gold quality
parietal lobe	UBERON:0001872	86.02	gold quality
globus pallidus	UBERON:0001875	85.06	gold quality
superior frontal gyrus	UBERON:0002661	84.66	gold quality
primary visual cortex	UBERON:0002436	84.49	gold quality
superior vestibular nucleus	UBERON:0007227	83.77	gold quality
occipital lobe	UBERON:0002021	83.51	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	83.06	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	82.89	gold quality
medulla oblongata	UBERON:0001896	82.79	gold quality
cortical plate	UBERON:0005343	80.99	gold quality
lateral globus pallidus	UBERON:0002476	80.64	gold quality
ventral tegmental area	UBERON:0002691	79.99	silver quality
cerebellum	UBERON:0002037	79.76	gold quality
cerebellar cortex	UBERON:0002129	79.56	gold quality
temporal lobe	UBERON:0001871	79.51	gold quality
cerebellar hemisphere	UBERON:0002245	79.51	gold quality
right hemisphere of cerebellum	UBERON:0014890	78.73	gold quality
substantia nigra pars compacta	UBERON:0001965	78.34	silver quality
ventricular zone	UBERON:0003053	77.76	gold quality
ganglionic eminence	UBERON:0004023	77.70	gold quality
subthalamic nucleus	UBERON:0001906	77.63	silver quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.95

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

65 targeting PURG, 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-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-511-3P	99.99	68.85	1467
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-2110	99.96	66.68	1930
HSA-MIR-8082	99.95	67.27	1170
HSA-MIR-4778-3P	99.93	70.40	1818
HSA-MIR-454-3P	99.91	74.01	1925
HSA-MIR-130A-3P	99.90	73.31	1861
HSA-MIR-130B-3P	99.90	73.27	1850
HSA-MIR-301A-3P	99.90	73.15	1839
HSA-MIR-301B-3P	99.90	73.19	1836
HSA-MIR-3666	99.90	73.24	1833
HSA-MIR-4295	99.90	73.11	1838
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-4671-3P	99.88	72.46	1045
HSA-MIR-5003-3P	99.85	69.29	2517
HSA-MIR-202-3P	99.84	71.41	1290
HSA-MIR-8076	99.78	68.52	1170
HSA-MIR-7856-5P	99.75	69.99	2901
HSA-MIR-646	99.68	67.84	1645
HSA-MIR-587	99.64	70.86	2611
HSA-MIR-2113	99.58	71.22	1521
HSA-MIR-4524A-5P	99.57	71.73	1193

Literature-anchored findings (GeneRIF, showing 1)

• Distinct proteins encoded by alternative transcripts of the PURG gene, located contrapodal to WRN on chromosome 8, determined by differential termination/polyadenylation (PMID:12034829)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	purg	ENSDARG00000099187
mus_musculus	Purg	ENSMUSG00000049184
rattus_norvegicus	Purg	ENSRNOG00000015426
drosophila_melanogaster	Pur-alpha	FBGN0022361
caenorhabditis_elegans		WBGENE00004046
caenorhabditis_elegans		WBGENE00008976

Paralogs (2): PURB (ENSG00000146676), PURA (ENSG00000185129)

Protein

Protein identifiers

Purine-rich element-binding protein gamma — Q9UJV8 (reviewed: Q9UJV8)

All UniProt accessions (2): K7ENC1, Q9UJV8

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Nucleus.

Tissue specificity. Isoform 1 is expressed in testis and glioblastoma. Isoform 2 is expressed in fetal lung.

Similarity. Belongs to the PUR DNA-binding protein family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9UJV8-1	1, PURG-A	yes
Q9UJV8-2	2, PURG-B

RefSeq proteins (4): NP_001015508, NP_001310240, NP_001310241, NP_037489 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006628	PUR-bd_fam	Family

Pfam: PF04845

UniProt features (14 total): sequence variant 4, modified residue 3, region of interest 2, compositionally biased region 2, chain 1, DNA-binding region 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UJV8-F1	72.82	0.46

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 (3): 160, 163, 339

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 178 (showing top): TGGTGCT_MIR29A_MIR29B_MIR29C, CREL_01, ATACCTC_MIR202, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GGGTGGRR_PAX4_03, NFKB_Q6, NFKB_C, AML_Q6, TGCTGAY_UNKNOWN, WTGAAAT_UNKNOWN, chr8p12, CCCAGAG_MIR326, HAND1E47_01, ATGTCAC_MIR489

GO Biological Process (1): regulation of transcription by RNA polymerase II (GO:0006357)

GO Molecular Function (5): RNA polymerase II transcription regulatory region sequence-specific DNA binding (GO:0000977), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), RNA binding (GO:0003723), purine-rich negative regulatory element binding (GO:0032422), DNA binding (GO:0003677)

GO Cellular Component (2): nucleus (GO:0005634), synapse (GO:0045202)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
transcription cis-regulatory region binding	2
nucleic acid binding	2
regulation of DNA-templated transcription	1
transcription by RNA polymerase II	1
chromatin	1
RNA polymerase II transcription regulatory region sequence-specific DNA binding	1
DNA-binding transcription factor activity	1
regulation of transcription by RNA polymerase II	1
intracellular membrane-bounded organelle	1
cell junction	1

Protein interactions and networks

STRING

390 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PURG	KRTAP20-3	Q3LI60	697
PURG	TMEM69	Q5SWH9	464
PURG	TRMT13	Q9NUP7	429
PURG	TRMT9B	Q9P272	414
PURG	ZGRF1	Q86YA3	400
PURG	MCMDC2	Q4G0Z9	392
PURG	LONRF1	Q17RB8	382
PURG	PON1	P27169	375
PURG	FLYWCH1	Q4VC44	375
PURG	PRSS33	Q8NF86	369
PURG	TRMT11	Q7Z4G4	361
PURG	TTI2	Q6NXR4	359
PURG	EME2	A4GXA9	349
PURG	PRSS41	Q7RTY9	345
PURG	TBL3	Q12788	339

IntAct

6 interactions, top by confidence:

A	B	Type	Score
DSN1	ZWINT	psi-mi:“MI:0914”(association)	0.900
MIS12	ZWINT	psi-mi:“MI:0914”(association)	0.900
PURG	U2SURP	psi-mi:“MI:0914”(association)	0.530
PURG	ZNF320	psi-mi:“MI:0914”(association)	0.350
PURG	POLRMT	psi-mi:“MI:0914”(association)	0.350

BioGRID (223): PURG (Synthetic Growth Defect), PURG (Reconstituted Complex), CASC5 (Affinity Capture-MS), PURG (Affinity Capture-MS), PURG (Affinity Capture-MS), MRPL45 (Affinity Capture-MS), MIS12 (Affinity Capture-MS), SPC24 (Affinity Capture-MS), RPS16 (Affinity Capture-MS), LARP7 (Affinity Capture-MS), ZNF732 (Affinity Capture-MS), DDX27 (Affinity Capture-MS), NOP2 (Affinity Capture-MS), ZNF708 (Affinity Capture-MS), DDX21 (Affinity Capture-MS)

ESM2 similar proteins: F4JSE7, O88974, P35922, P51113, P53349, P55265, P55266, Q06787, Q13233, Q13905, Q15047, Q2KHP9, Q3ULM0, Q5E9J6, Q5NVC7, Q5R6Y9, Q5R9B4, Q62925, Q66JG9, Q69Z66, Q6A0A9, Q6AYH3, Q6GLC9, Q6ZM86, Q7Z699, Q80TJ7, Q80U40, Q80WE1, Q8N5Y2, Q8QFX1, Q8R4E6, Q8TEW8, Q8VDD9, Q8VZF6, Q8WWQ0, Q921C3, Q924S8, Q969K3, Q99KR6, Q99MU3

Diamond homologs: O35295, P42669, P86252, Q00577, Q68A21, Q6PAC9, Q6PHK6, Q8AVS4, Q8R4E6, Q94230, Q96QR8, Q9UJV8

SIGNOR signaling

0 interactions.

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	39
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

218 predictions. Top by Δscore:

Variant	Effect	Δscore
8:31033076:A:AC	donor_gain	0.9900
8:31033077:C:CC	donor_gain	0.9900
8:31033544:A:AC	donor_gain	0.9900
8:31033545:C:CC	donor_gain	0.9900
8:31033077:CAT:C	donor_gain	0.9800
8:31033545:CTT:C	donor_gain	0.9700
8:31032789:C:CC	acceptor_gain	0.9600
8:31033547:T:TA	donor_gain	0.9600
8:31033611:T:TA	donor_gain	0.9600
8:31033612:C:A	donor_gain	0.9600
8:31033073:CTCA:C	donor_loss	0.9500
8:31033074:TCA:T	donor_loss	0.9500
8:31033075:CA:C	donor_loss	0.9500
8:31033076:ACA:A	donor_loss	0.9500
8:31033077:C:CA	donor_loss	0.9500
8:31033070:GCACT:G	donor_loss	0.9400
8:31033071:CACT:C	donor_loss	0.9400
8:31033072:ACTCA:A	donor_loss	0.9400
8:31033076:ACAT:A	donor_gain	0.9400
8:31033077:CATC:C	donor_gain	0.9400
8:31033545:CTTCT:C	donor_gain	0.9300
8:31033069:GGCAC:G	donor_loss	0.9200
8:31033077:CA:C	donor_gain	0.8800
8:31033434:T:TA	donor_gain	0.8800
8:31033077:CATCA:C	donor_gain	0.8700
8:31033090:A:AC	donor_gain	0.8600
8:31032450:C:CT	acceptor_gain	0.8400
8:31032786:CAG:C	acceptor_gain	0.8300
8:31032444:CG:C	acceptor_gain	0.8200
8:31032789:C:CG	acceptor_loss	0.8200

AlphaMissense

1037 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:31032427:A:G	L119P	1.000
8:31032439:A:G	L115P	1.000
8:31032463:A:G	L107P	1.000
8:31032463:A:T	L107H	1.000
8:31032469:A:G	L105P	1.000
8:31032477:C:A	K102N	1.000
8:31032477:C:G	K102N	1.000
8:31032479:T:C	K102E	1.000
8:31032516:T:A	E89D	1.000
8:31032516:T:G	E89D	1.000
8:31032517:T:A	E89V	1.000
8:31032518:C:T	E89K	1.000
8:31032520:G:T	A88D	1.000
8:31032521:C:G	A88P	1.000
8:31032523:A:C	I87R	1.000
8:31032523:A:T	I87K	1.000
8:31032525:C:A	K86N	1.000
8:31032525:C:G	K86N	1.000
8:31032527:T:C	K86E	1.000
8:31032529:A:C	L85R	1.000
8:31032529:A:G	L85P	1.000
8:31032529:A:T	L85Q	1.000
8:31032531:G:C	F84L	1.000
8:31032531:G:T	F84L	1.000
8:31032532:A:C	F84C	1.000
8:31032532:A:G	F84S	1.000
8:31032533:A:G	F84L	1.000
8:31032533:A:T	F84I	1.000
8:31032538:C:T	G82D	1.000
8:31032539:C:G	G82R	1.000

dbSNP variants (sampled 300 via entrez): RS1000099085 (8:31034236 T>C), RS1000107290 (8:31025504 T>A,G), RS1000178146 (8:31027236 T>C), RS1000252978 (8:31005911 A>G), RS1000308083 (8:31012849 T>C,G), RS1000377512 (8:31019930 G>A), RS1000442036 (8:31012499 C>A), RS1000503255 (8:31032714 A>G), RS1000542795 (8:31025188 A>C,G), RS1000605017 (8:31006176 T>G), RS1000651546 (8:31030685 A>G), RS1000759242 (8:30999749 C>A), RS1000785817 (8:30999675 C>T), RS1000897182 (8:31004204 A>T), RS1000944088 (8:31025710 G>A)

Disease associations

OMIM: gene MIM:618041 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

13 associations (top):

Study	Trait	p-value
GCST003518_18	Daytime sleep phenotypes	2.000000e-06
GCST004136_21	Methadone dose in opioid dependence	4.000000e-06
GCST005316_80	Intelligence (MTAG)	1.000000e-09
GCST006269_733	General cognitive ability	1.000000e-08
GCST006867_68	Type 2 diabetes	3.000000e-09
GCST007928_21	Medication use (diuretics)	4.000000e-09
GCST009379_83	Type 2 diabetes	2.000000e-09
GCST009524_286	Household income (MTAG)	4.000000e-09
GCST009602_81	Metabolic syndrome	3.000000e-08
GCST010659_15	Waist circumference	3.000000e-14
GCST010774_19	Essential hypertension (time to event)	3.000000e-08
GCST010988_292	Adult body size	2.000000e-11
GCST012489_90	Heel bone mineral density x serum urate levels interaction	7.000000e-09

EFO canonical traits (9, from GWAS)

EFO ID	Trait name
EFO:0007828	daytime rest measurement
EFO:0007907	methadone dose measurement
EFO:0004337	intelligence
EFO:0009928	Diuretic use measurement
EFO:0009695	household income
EFO:0000195	metabolic syndrome
EFO:0004918	age at diagnosis
EFO:0004531	urate measurement
EFO:0009270	heel bone mineral density

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs2725335	PURG, WRN		0.00	0

CTD chemical–gene interactions

19 total (human), top 19 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression, affects expression, decreases methylation, increases expression	9
trichostatin A	affects cotreatment, decreases expression, affects expression, increases expression	4
entinostat	decreases expression, affects cotreatment	2
Panobinostat	affects cotreatment, decreases expression	2
Benzo(a)pyrene	increases methylation, affects methylation, increases expression	2
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	affects splicing	1
sodium arsenite	decreases expression	1
butyraldehyde	increases expression	1
tebuconazole	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
Sunitinib	decreases expression	1
Arsenic Trioxide	increases expression	1
Diethylhexyl Phthalate	decreases expression	1
Fluorouracil	affects reaction, decreases expression	1
Oxygen	increases expression	1
Phenylmercuric Acetate	decreases expression, affects cotreatment	1
Tretinoin	increases expression	1
Lithium Chloride	decreases expression	1

Clinical trials (associated diseases)

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