PROSER2

Summary

PROSER2 (proline and serine rich 2, HGNC:23728) is a protein-coding gene on chromosome 10p14, encoding Proline and serine-rich protein 2 (Q86WR7).

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 157 total
• MANE Select transcript: NM_153256

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23728
Approved symbol	PROSER2
Name	proline and serine rich 2
Location	10p14
Locus type	gene with protein product
Status	Approved
Aliases	MGC35403
Ensembl gene	ENSG00000148426
Ensembl biotype	protein_coding
Entrez	254427

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 3 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000277570, ENST00000379200, ENST00000444604, ENST00000474155

RefSeq mRNA: 1 — MANE Select: NM_153256 NM_153256

CCDS: CCDS7085

Canonical transcript exons

ENST00000277570 — 4 exons

Exon	Start	End
ENSE00000985215	11869490	11872277
ENSE00001337502	11866531	11866783
ENSE00003546514	11851997	11852215
ENSE00003844226	11823356	11823470

Expression profiles

Bgee: expression breadth ubiquitous, 204 present calls, max score 99.08.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.2615 / max 135.9421, expressed in 1363 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
103900	5.6629	1330
103899	0.5909	327
205725	0.0078	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
pancreatic ductal cell	CL:0002079	99.08	gold quality
amniotic fluid	UBERON:0000173	89.70	gold quality
right lobe of liver	UBERON:0001114	88.75	gold quality
secondary oocyte	CL:0000655	88.23	gold quality
cartilage tissue	UBERON:0002418	88.05	gold quality
liver	UBERON:0002107	87.95	gold quality
epithelial cell of pancreas	CL:0000083	87.46	silver quality
lower esophagus mucosa	UBERON:0035834	87.34	gold quality
oocyte	CL:0000023	85.01	gold quality
esophagus squamous epithelium	UBERON:0006920	84.63	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	83.96	gold quality
endothelial cell	CL:0000115	83.66	gold quality
tibial nerve	UBERON:0001323	82.42	gold quality
gingival epithelium	UBERON:0001949	82.39	silver quality
tibia	UBERON:0000979	82.20	gold quality
metanephros cortex	UBERON:0010533	81.64	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	81.46	gold quality
kidney epithelium	UBERON:0004819	81.32	gold quality
right lung	UBERON:0002167	80.69	gold quality
upper lobe of left lung	UBERON:0008952	80.09	gold quality
gingiva	UBERON:0001828	80.00	silver quality
upper lobe of lung	UBERON:0008948	79.55	gold quality
buccal mucosa cell	CL:0002336	79.33	silver quality
esophagus mucosa	UBERON:0002469	78.61	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	78.39	gold quality
decidua	UBERON:0002450	78.39	gold quality
palpebral conjunctiva	UBERON:0001812	77.74	gold quality
sural nerve	UBERON:0015488	77.34	gold quality
bronchial epithelial cell	CL:0002328	77.28	gold quality
nasal cavity mucosa	UBERON:0001826	76.88	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.51

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

108 targeting PROSER2, 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-8485	100.00	77.57	4731
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-499A-5P	99.98	70.79	1323
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-4487	99.96	64.58	1252
HSA-MIR-128-3P	99.95	71.17	2484
HSA-MIR-216A-3P	99.95	71.19	2505
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-141-3P	99.94	72.79	2421
HSA-MIR-200A-3P	99.94	72.68	2420
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-1305	99.91	71.43	3443
HSA-MIR-3681-3P	99.88	70.46	2254
HSA-MIR-30A-3P	99.87	69.74	2928
HSA-MIR-30D-3P	99.87	69.92	2917
HSA-MIR-30E-3P	99.87	69.68	2942

Literature-anchored findings (GeneRIF, showing 1)

• New Function Annotation of PROSER2 in Pancreatic Ductal Adenocarcinoma. (PMID:38293943)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Proser2	ENSMUSG00000045319
rattus_norvegicus	Proser2	ENSRNOG00000045553

Paralogs (1): TMEM143 (ENSG00000161558)

Protein

Protein identifiers

Proline and serine-rich protein 2 — Q86WR7 (reviewed: Q86WR7)

All UniProt accessions (3): Q86WR7, D3DRR9, X6RHS9

Isoforms (2)

UniProt ID	Names	Canonical?
Q86WR7-1	1	yes
Q86WR7-2	2

RefSeq proteins (1): NP_694988* (*=MANE)

Domains & families (InterPro)

Pfam: PF15385

UniProt features (31 total): modified residue 17, compositionally biased region 7, region of interest 3, chain 1, splice variant 1, sequence variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q86WR7-F1	58.50	0.09

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 (17): 8, 43, 45, 146, 166, 167, 179, 212, 215, 252, 252, 312, 320, 320, 378, 400, 414

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 81 (showing top): CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, BASAKI_YBX1_TARGETS_UP, SENESE_HDAC3_TARGETS_DN, RAY_TUMORIGENESIS_BY_ERBB2_CDC25A_DN, WIERENGA_STAT5A_TARGETS_DN, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, CRX_NRL_DN.V1_UP, NRL_DN.V1_UP, chr10p14, GREB1_TARGET_GENES, ZFP91_TARGET_GENES, ZNF175_TARGET_GENES, ZNF197_TARGET_GENES, ZNF436_TARGET_GENES, ZNF766_TARGET_GENES

GO Biological Process (0):

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1

Protein interactions and networks

STRING

422 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PROSER2	FATE1	Q969F0	659
PROSER2	LRRC75B	Q2VPJ9	581
PROSER2	C15orf40	Q8WUR7	560
PROSER2	CD180	Q99467	539
PROSER2	CDC42EP4	Q9H3Q1	499
PROSER2	ECHDC3	Q96DC8	496
PROSER2	SYNGR4	O95473	460
PROSER2	FAM199X	Q6PEV8	451
PROSER2	TMEM220	Q6QAJ8	444
PROSER2	THEM6	Q8WUY1	436
PROSER2	CAMTA1	Q9Y6Y1	436
PROSER2	CCDC3	Q9BQI4	434
PROSER2	NUDT5	Q9UKK9	424
PROSER2	RTN4R	Q9BZR6	418
PROSER2	SERTAD2	Q14140	415

IntAct

29 interactions, top by confidence:

A	B	Type	Score
PDCD10	STK25	psi-mi:“MI:0914”(association)	0.980
STK25	STRN	psi-mi:“MI:0914”(association)	0.900
STK24	STK25	psi-mi:“MI:0914”(association)	0.890
CLIC1	TPRN	psi-mi:“MI:0914”(association)	0.670
IMP3	MPHOSPH10	psi-mi:“MI:0914”(association)	0.670
SLC25A43	HSPD1	psi-mi:“MI:0914”(association)	0.530
POT1	PROSER2	psi-mi:“MI:0915”(physical association)	0.510
MEMO1	PROSER2	psi-mi:“MI:0915”(physical association)	0.500
PKM	PROSER2	psi-mi:“MI:0217”(phosphorylation reaction)	0.440
EPS8	PROSER2	psi-mi:“MI:0915”(physical association)	0.370
PROSER2	YTHDC1	psi-mi:“MI:0915”(physical association)	0.370
ACTB	PROSER2	psi-mi:“MI:0915”(physical association)	0.370
Xpo1	IFT56	psi-mi:“MI:0914”(association)	0.350
PROSER2	VWA8	psi-mi:“MI:0914”(association)	0.350
ESR2		psi-mi:“MI:0914”(association)	0.350
STK25	ACACB	psi-mi:“MI:0914”(association)	0.350
KAT5	YEATS4	psi-mi:“MI:0914”(association)	0.350
CLIC3	CNOT4	psi-mi:“MI:0914”(association)	0.350
CLIC1	TPRN	psi-mi:“MI:0914”(association)	0.350
MEMO1	HMBOX1	psi-mi:“MI:0914”(association)	0.350
CLIC3	FKBP5	psi-mi:“MI:0914”(association)	0.350
SLC27A4	IPO5	psi-mi:“MI:0914”(association)	0.350
YWHAH	E2F8	psi-mi:“MI:2364”(proximity)	0.270
YWHAG	E2F8	psi-mi:“MI:2364”(proximity)	0.270
PROSER2	POT1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (92): PROSER2 (Affinity Capture-MS), PDCD10 (Affinity Capture-MS), PROSER2 (Affinity Capture-MS), STK24 (Affinity Capture-MS), STK25 (Affinity Capture-MS), PROSER2 (Affinity Capture-MS), STK26 (Affinity Capture-MS), ITFG2 (Affinity Capture-MS), NELFA (Affinity Capture-MS), RDH13 (Affinity Capture-MS), MTHFD2L (Affinity Capture-MS), KPTN (Affinity Capture-MS), PHF1 (Affinity Capture-MS), VWA8 (Affinity Capture-MS), CDKN2C (Affinity Capture-MS)

ESM2 similar proteins: A0A1B0GUS0, A0A5F9ZHS7, A7E346, A7MB34, A8MZG2, B2RU40, D4A9R4, O08574, O75593, P0C1Z6, P0CG20, Q0VG99, Q0ZCJ7, Q17QH7, Q29RM2, Q2KIS6, Q2M2S6, Q2M3G4, Q2NL68, Q32LE6, Q3U1J1, Q5JXC2, Q5R815, Q5SW24, Q61660, Q63247, Q6NZ36, Q6PBC9, Q6ZN01, Q6ZRI6, Q7TN08, Q7Z591, Q80VF6, Q86WR7, Q8BG26, Q8BP99, Q8BXQ8, Q8IYS4, Q8N9Y4, Q8NAV2

Diamond homologs: Q86WR7, Q8C5R2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	129
Likely benign	14
Benign	6

Top pathogenic / likely-pathogenic (0)

SpliceAI

1106 predictions. Top by Δscore:

Variant	Effect	Δscore
10:11846728:A:T	donor_gain	1.0000
10:11851985:T:A	acceptor_gain	1.0000
10:11851986:G:A	acceptor_gain	1.0000
10:11851994:TA:T	acceptor_loss	1.0000
10:11851994:TAGG:T	acceptor_gain	1.0000
10:11851995:A:AG	acceptor_gain	1.0000
10:11851995:AG:A	acceptor_gain	1.0000
10:11851995:AGGA:A	acceptor_gain	1.0000
10:11851996:G:GC	acceptor_gain	1.0000
10:11851996:GG:G	acceptor_gain	1.0000
10:11851996:GGA:G	acceptor_gain	1.0000
10:11851996:GGAG:G	acceptor_gain	1.0000
10:11851996:GGAGT:G	acceptor_gain	1.0000
10:11852211:CTTTG:C	donor_gain	1.0000
10:11852212:TTTG:T	donor_gain	1.0000
10:11852213:TTG:T	donor_gain	1.0000
10:11852214:TG:T	donor_gain	1.0000
10:11852215:GG:G	donor_gain	1.0000
10:11852216:G:GG	donor_gain	1.0000
10:11852216:GTGA:G	donor_loss	1.0000
10:11852217:T:A	donor_loss	1.0000
10:11866515:A:AG	acceptor_gain	1.0000
10:11866521:T:A	acceptor_gain	1.0000
10:11866526:TCTAG:T	acceptor_loss	1.0000
10:11866528:TA:T	acceptor_loss	1.0000
10:11866529:AG:A	acceptor_gain	1.0000
10:11866530:GG:G	acceptor_gain	1.0000
10:11866530:GGAT:G	acceptor_gain	1.0000
10:11866747:G:GT	donor_gain	1.0000
10:11866747:G:T	donor_gain	1.0000

AlphaMissense

2791 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:11870329:T:C	F411L	0.999
10:11870330:T:C	F411S	0.999
10:11870330:T:G	F411C	0.999
10:11870331:C:A	F411L	0.999
10:11870331:C:G	F411L	0.999
10:11870372:T:C	L425P	0.998
10:11870375:G:C	R426P	0.998
10:11870381:T:C	L428P	0.998
10:11870387:T:C	L430P	0.998
10:11866582:T:C	F64L	0.997
10:11866583:T:C	F64S	0.997
10:11866584:T:A	F64L	0.997
10:11866584:T:G	F64L	0.997
10:11866594:A:C	T68P	0.997
10:11870324:T:A	V409E	0.997
10:11870383:G:T	G429W	0.997
10:11870384:G:A	G429E	0.997
10:11866586:T:C	F65S	0.996
10:11869868:T:C	I257T	0.996
10:11870359:C:A	R421S	0.996
10:11870368:G:C	A424P	0.996
10:11870372:T:A	L425Q	0.996
10:11870384:G:T	G429V	0.996
10:11870387:T:A	L430Q	0.996
10:11869868:T:G	I257S	0.995
10:11866566:A:C	E58D	0.994
10:11866566:A:T	E58D	0.994
10:11866553:T:C	L54P	0.993
10:11866577:T:C	L62P	0.993
10:11866583:T:G	F64C	0.992

dbSNP variants (sampled 300 via entrez): RS1000041200 (10:11850182 T>C), RS1000092307 (10:11855790 T>C), RS1000148817 (10:11833509 G>A,T), RS1000183008 (10:11832671 G>C,T), RS1000186619 (10:11855533 G>A,C), RS1000224658 (10:11824248 G>T), RS1000226864 (10:11839324 C>T), RS1000354292 (10:11827743 A>C,G), RS1000369733 (10:11833721 G>A), RS1000433186 (10:11850362 C>A), RS1000482333 (10:11832243 A>G), RS1000518011 (10:11872451 A>G), RS1000582962 (10:11835346 T>C,G), RS1000628531 (10:11867758 G>C), RS1000656638 (10:11835121 A>G)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST002727_2	Breast cancer (survival)	2.000000e-06
GCST004599_5	Mean platelet volume	5.000000e-18
GCST010516_1	Fractures (paediatric)	7.000000e-09

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0000714	survival time

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression, decreases methylation	8
Tobacco Smoke Pollution	affects expression, decreases expression, increases expression	3
entinostat	increases expression, affects cotreatment	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Silver	increases expression	2
Cyclosporine	increases expression	2
FR900359	affects phosphorylation	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, increases expression, increases abundance	1
bisphenol A	affects cotreatment, decreases methylation	1
beta-lapachone	increases expression	1
sodium arsenite	decreases expression, increases expression	1
manganese chloride	decreases expression, increases abundance	1
coumarin	affects phosphorylation	1
methacrylaldehyde	affects cotreatment, increases expression, increases abundance	1
mercuric bromide	increases expression, affects cotreatment	1
di-n-butylphosphoric acid	affects expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
Sunitinib	increases expression	1
Zoledronic Acid	increases expression	1
Fulvestrant	decreases methylation, affects cotreatment	1
Leflunomide	increases expression	1
Acrolein	affects cotreatment, increases expression, increases abundance	1
Air Pollutants	affects cotreatment, increases abundance, increases expression	1
Amiodarone	increases expression	1
Benzo(a)pyrene	decreases methylation	1
Caffeine	decreases phosphorylation	1
Calcitriol	increases expression, affects cotreatment	1

Clinical trials (associated diseases)

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