PROSER3

Summary

PROSER3 (proline and serine rich 3, HGNC:25204) is a protein-coding gene on chromosome 19q13.12, encoding Proline and serine-rich protein 3 (Q2NL68).

Located in centrosome.

Source: NCBI Gene 148137 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 89 total
• MANE Select transcript: NM_001367856

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25204
Approved symbol	PROSER3
Name	proline and serine rich 3
Location	19q13.12
Locus type	gene with protein product
Status	Approved
Aliases	FLJ30657
Ensembl gene	ENSG00000167595
Ensembl biotype	protein_coding
Entrez	148137

Gene structure

Transcript identifiers

Ensembl transcripts: 21 — 12 protein_coding, 3 protein_coding_CDS_not_defined, 3 nonsense_mediated_decay, 3 retained_intron

ENST00000301165, ENST00000396908, ENST00000421853, ENST00000444637, ENST00000536037, ENST00000536950, ENST00000537459, ENST00000539771, ENST00000542134, ENST00000542591, ENST00000544158, ENST00000544876, ENST00000545674, ENST00000600988, ENST00000601095, ENST00000620918, ENST00000646935, ENST00000696040, ENST00000696041, ENST00000696042, ENST00000696043

RefSeq mRNA: 11 — MANE Select: NM_001367856 NM_001039887, NM_001367856, NM_001395450, NM_001395451, NM_001395452, NM_001395453, NM_001395454, NM_001395455, NM_001395456, NM_001395457, NM_001395458

CCDS: CCDS46056, CCDS92595

Canonical transcript exons

ENST00000646935 — 11 exons

Exon	Start	End
ENSE00002209425	35767072	35768065
ENSE00002317811	35762253	35762356
ENSE00003585501	35762019	35762146
ENSE00003965863	35759789	35759991
ENSE00003965865	35759374	35759470
ENSE00003965867	35758176	35758226
ENSE00003965871	35768155	35768236
ENSE00003965873	35764854	35764936
ENSE00003965877	35766768	35766955
ENSE00003965878	35765034	35765176
ENSE00004282545	35768404	35771166

Expression profiles

Bgee: expression breadth ubiquitous, 174 present calls, max score 91.45.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.2353 / max 68.1138, expressed in 1763 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
175401	8.5081	1751
208786	0.3553	153
175400	0.2208	66
175402	0.1511	52

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
buccal mucosa cell	CL:0002336	91.45	gold quality
right uterine tube	UBERON:0001302	90.73	gold quality
left testis	UBERON:0004533	89.33	gold quality
right testis	UBERON:0004534	89.08	gold quality
sural nerve	UBERON:0015488	86.05	gold quality
stromal cell of endometrium	CL:0002255	85.81	gold quality
body of uterus	UBERON:0009853	85.29	gold quality
testis	UBERON:0000473	85.13	gold quality
right ovary	UBERON:0002118	85.11	gold quality
left ovary	UBERON:0002119	84.89	gold quality
left uterine tube	UBERON:0001303	84.81	gold quality
right lobe of thyroid gland	UBERON:0001119	84.51	gold quality
colonic epithelium	UBERON:0000397	84.42	gold quality
adenohypophysis	UBERON:0002196	84.26	gold quality
metanephros cortex	UBERON:0010533	83.64	gold quality
bone marrow cell	CL:0002092	83.48	gold quality
endocervix	UBERON:0000458	83.46	gold quality
ectocervix	UBERON:0012249	83.32	gold quality
left lobe of thyroid gland	UBERON:0001120	83.26	gold quality
pituitary gland	UBERON:0000007	83.07	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	82.62	gold quality
granulocyte	CL:0000094	82.33	gold quality
ventricular zone	UBERON:0003053	82.23	gold quality
muscle layer of sigmoid colon	UBERON:0035805	82.20	gold quality
lower esophagus muscularis layer	UBERON:0035833	82.14	gold quality
lower esophagus	UBERON:0013473	82.13	gold quality
tibial nerve	UBERON:0001323	81.72	gold quality
thyroid gland	UBERON:0002046	81.67	gold quality
body of stomach	UBERON:0001161	81.52	gold quality
transverse colon	UBERON:0001157	81.50	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.34

Regulation

Is transcription factor: no

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	proser3	ENSDARG00000097591
mus_musculus	Proser3	ENSMUSG00000036864
rattus_norvegicus	Proser3	ENSRNOG00000024625

Protein

Protein identifiers

Proline and serine-rich protein 3 — Q2NL68 (reviewed: Q2NL68)

All UniProt accessions (12): A0A2R8Y8D9, A0A8Q3WKY3, A0A8Q3WKY6, A0A8Q3WKY7, C9JFW7, F5GXU6, F8W7U6, H0YFI8, M0QY86, M0QZ53, Q2NL68, S4R3L1

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome.

Isoforms (4)

UniProt ID	Names	Canonical?
Q2NL68-1	1	yes
Q2NL68-2	2
Q2NL68-3	3
Q2NL68-4	4

RefSeq proteins (11): NP_001034976, NP_001354785, NP_001382379, NP_001382380, NP_001382381, NP_001382382, NP_001382383, NP_001382384, NP_001382385, NP_001382386, NP_001382387 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR037646	PROSER3	Family

UniProt features (23 total): compositionally biased region 6, splice variant 6, region of interest 5, sequence variant 2, chain 1, modified residue 1, sequence conflict 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q2NL68-F1	58.43	0.11

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 (1): 408

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 67 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_DN, WANG_CLIM2_TARGETS_UP, GCANCTGNY_MYOD_Q6, CAGCTG_AP4_Q5, GOCC_MICROTUBULE_ORGANIZING_CENTER, AACWWCAANK_UNKNOWN, AP1_Q4_01, GOCC_CENTROSOME, TGANTCA_AP1_C, CREB_Q3, RGAGGAARY_PU1_Q6, AGCYRWTTC_UNKNOWN, MARSON_BOUND_BY_E2F4_UNSTIMULATED, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, AP4_Q6_01

GO Biological Process (0):

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

GO Cellular Component (3): centrosome (GO:0005813), cytoplasm (GO:0005737), cytoskeleton (GO:0005856)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1
centriole	1
microtubule organizing center	1
intracellular anatomical structure	1
cellular anatomical structure	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

574 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PROSER3	IQCC	Q4KMZ1	645
PROSER3	C19orf44	Q9H6X5	614
PROSER3	TMEM139	Q8IV31	528
PROSER3	GIGYF1	O75420	501
PROSER3	CCDC9B	Q6ZUT6	480
PROSER3	PELI3	Q8N2H9	479
PROSER3	LZTS2	Q9BRK4	467
PROSER3	C10orf88	Q9H8K7	430
PROSER3	CPAMD8	Q8IZJ3	402
PROSER3	MRPS24	P82668	399
PROSER3	DLGAP5	Q15398	386
PROSER3	CFAP97	Q9P2B7	386
PROSER3	ZZEF1	O43149	385
PROSER3	ETNK2	Q9NVF9	380
PROSER3	CCDC57	Q2TAC2	377

IntAct

36 interactions, top by confidence:

A	B	Type	Score
PROSER3	ZNF396	psi-mi:“MI:0915”(physical association)	0.560
PROSER3	IQCC	psi-mi:“MI:0915”(physical association)	0.560
PROSER3	SGF29	psi-mi:“MI:0915”(physical association)	0.560
PROSER3	NME7	psi-mi:“MI:0915”(physical association)	0.560
PROSER3	CCDC146	psi-mi:“MI:0915”(physical association)	0.560
PROSER3	CCHCR1	psi-mi:“MI:0915”(physical association)	0.560
PROSER3	CCDC57	psi-mi:“MI:0915”(physical association)	0.560
PROSER3	CDC23	psi-mi:“MI:0915”(physical association)	0.560
rep	SBNO1	psi-mi:“MI:0914”(association)	0.350
MIF	BLTP3B	psi-mi:“MI:0914”(association)	0.350
CEP128	CCDC66	psi-mi:“MI:2364”(proximity)	0.270
CEP135	CCDC66	psi-mi:“MI:2364”(proximity)	0.270
NINL	CCDC66	psi-mi:“MI:2364”(proximity)	0.270
ZNF396	PROSER3	psi-mi:“MI:0915”(physical association)	0.000
IQCC	PROSER3	psi-mi:“MI:0915”(physical association)	0.000
SGF29	PROSER3	psi-mi:“MI:0915”(physical association)	0.000
NME7	PROSER3	psi-mi:“MI:0915”(physical association)	0.000
CCDC146	PROSER3	psi-mi:“MI:0915”(physical association)	0.000
CCHCR1	PROSER3	psi-mi:“MI:0915”(physical association)	0.000
CCDC57	PROSER3	psi-mi:“MI:0915”(physical association)	0.000
CDC23	PROSER3	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (23): PROSER3 (Proximity Label-MS), PROSER3 (Proximity Label-MS), PROSER3 (Proximity Label-MS), PROSER3 (Proximity Label-MS), PROSER3 (Proximity Label-MS), PROSER3 (Two-hybrid), PROSER3 (Two-hybrid), PROSER3 (Two-hybrid), PROSER3 (Two-hybrid), CCDC57 (Two-hybrid), CCDC101 (Two-hybrid), ZNF396 (Two-hybrid), CCHCR1 (Two-hybrid), PROSER3 (Proximity Label-MS), PROSER3 (Affinity Capture-MS)

ESM2 similar proteins: A0A096LP49, A0A8V8TNH8, A0A8V8TPE2, A2VE02, A5D7I0, A6NDY2, A6NGG8, A6NIJ5, A6NNJ1, A8MXJ8, A8MYA2, B1ASB6, B2RW88, D6RGX4, O60269, P0C7V4, P0C7W8, P0C7W9, P0C7X0, P0DV75, P0DV76, Q2KIS6, Q2NL68, Q3SY00, Q4R736, Q4V8B5, Q5RCQ2, Q5SZB4, Q5VZ46, Q5XIK6, Q658T7, Q66JV7, Q6NS69, Q6PAC4, Q6ZMY3, Q76N32, Q7TSA6, Q7Z591, Q80VW7, Q80X53

Diamond homologs: Q2NL68, Q7TSA6

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	57
Likely benign	13
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

1760 predictions. Top by Δscore:

Variant	Effect	Δscore
19:35762018:GGT:G	acceptor_gain	1.0000
19:35762018:GGTAT:G	acceptor_gain	1.0000
19:35766763:TACA:T	acceptor_loss	1.0000
19:35766764:ACAGC:A	acceptor_loss	1.0000
19:35766765:CA:C	acceptor_loss	1.0000
19:35766766:A:AG	acceptor_gain	1.0000
19:35766766:AGCAT:A	acceptor_loss	1.0000
19:35766767:G:GG	acceptor_gain	1.0000
19:35766767:GC:G	acceptor_gain	1.0000
19:35766900:G:GT	donor_gain	1.0000
19:35766900:G:T	donor_gain	1.0000
19:35758224:CAGG:C	donor_loss	0.9900
19:35758225:AGGTG:A	donor_loss	0.9900
19:35758226:GGT:G	donor_loss	0.9900
19:35758227:G:GC	donor_loss	0.9900
19:35758228:T:A	donor_loss	0.9900
19:35759372:A:AG	acceptor_gain	0.9900
19:35759373:G:GG	acceptor_gain	0.9900
19:35759780:T:A	acceptor_gain	0.9900
19:35759787:A:AG	acceptor_gain	0.9900
19:35759788:G:GG	acceptor_gain	0.9900
19:35759987:GCCAA:G	donor_gain	0.9900
19:35759988:CCAAG:C	donor_loss	0.9900
19:35759990:AAG:A	donor_loss	0.9900
19:35759991:AGTA:A	donor_loss	0.9900
19:35759992:G:GG	donor_gain	0.9900
19:35759992:G:T	donor_loss	0.9900
19:35759993:T:A	donor_loss	0.9900
19:35759994:AA:A	donor_loss	0.9900
19:35762014:CACA:C	acceptor_loss	0.9900

AlphaMissense

4594 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:35762032:T:C	F109L	0.996
19:35762033:T:C	F109S	0.996
19:35762034:C:A	F109L	0.996
19:35762034:C:G	F109L	0.996
19:35766868:G:C	W290C	0.996
19:35766868:G:T	W290C	0.996
19:35766866:T:A	W290R	0.995
19:35766866:T:C	W290R	0.995
19:35768172:T:C	F413L	0.995
19:35768174:C:A	F413L	0.995
19:35768174:C:G	F413L	0.995
19:35768173:T:C	F413S	0.990
19:35762033:T:G	F109C	0.989
19:35762101:T:A	W132R	0.988
19:35762101:T:C	W132R	0.988
19:35766867:G:C	W290S	0.985
19:35768173:T:G	F413C	0.984
19:35766870:G:C	R291P	0.981
19:35766879:G:C	R294P	0.979
19:35762021:A:C	Y105S	0.975
19:35762036:G:C	R110P	0.975
19:35762103:G:C	W132C	0.975
19:35762103:G:T	W132C	0.975
19:35768182:A:G	D416G	0.975
19:35762032:T:G	F109V	0.974
19:35768191:T:C	L419P	0.974
19:35766852:A:T	D285V	0.973
19:35762020:T:G	Y105D	0.972
19:35766858:T:A	L287Q	0.969
19:35766855:T:C	I286T	0.968

dbSNP variants (sampled 300 via entrez): RS1000309698 (19:35757631 T>C), RS1000338983 (19:35757363 CT>C), RS1000499931 (19:35759044 C>A,G,T), RS1000601652 (19:35771561 C>T), RS1000686022 (19:35766257 A>G), RS1000726103 (19:35758288 C>T), RS1001516589 (19:35768219 G>A,T), RS1001557310 (19:35757740 T>G), RS1001912609 (19:35769609 C>A,G,T), RS1002071043 (19:35764121 C>T), RS1002124267 (19:35762830 A>C,G), RS1002438245 (19:35771219 T>C,G), RS1002490209 (19:35767440 G>A), RS1002502974 (19:35756793 C>A,G), RS1002523005 (19:35767220 T>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

2 associations (top):

Study	Trait	p-value
GCST010703_277	Brain morphology (MOSTest)	2.000000e-15
GCST90000047_236	Age at first sexual intercourse	2.000000e-09

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004346	neuroimaging measurement
EFO:0009749	age at first sexual intercourse measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

25 total (human), top 25 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Cadmium Chloride	decreases expression, increases abundance, increases expression	3
aristolochic acid I	decreases expression	1
GSK-J4	decreases expression	1
dicrotophos	increases expression	1
bufotalin	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases expression	1
beta-lapachone	increases expression	1
sodium arsenite	increases expression	1
butyraldehyde	decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Zoledronic Acid	increases expression	1
Air Pollutants	increases abundance, increases expression	1
Benzo(a)pyrene	affects methylation	1
Cadmium	decreases expression, increases abundance	1
Caffeine	increases phosphorylation	1
Plant Extracts	affects cotreatment, decreases expression	1
Silicon Dioxide	increases expression	1
Smoke	decreases expression	1
Theophylline	increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Urethane	decreases expression	1
Aflatoxin B1	increases methylation	1
Acrylamide	decreases expression	1
Particulate Matter	increases abundance, increases expression	1

Clinical trials (associated diseases)

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