PRR22

Summary

PRR22 (proline rich 22, HGNC:28354) is a protein-coding gene on chromosome 19p13.3, encoding Proline-rich protein 22 (Q8IZ63).

At a glance

• Clinical variants (ClinVar): 101 total
• MANE Select transcript: NM_001134316

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28354
Approved symbol	PRR22
Name	proline rich 22
Location	19p13.3
Locus type	gene with protein product
Status	Approved
Aliases	MGC24975
Ensembl gene	ENSG00000212123
Ensembl biotype	protein_coding
Entrez	163154

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000390672, ENST00000419421

RefSeq mRNA: 1 — MANE Select: NM_001134316 NM_001134316

CCDS: CCDS45933

Canonical transcript exons

ENST00000419421 — 3 exons

Exon	Start	End
ENSE00001622902	5784377	5784439
ENSE00001742088	5782960	5784053
ENSE00001774156	5784531	5784746

Expression profiles

Bgee: expression breadth ubiquitous, 156 present calls, max score 91.99.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1188 / max 109.6137, expressed in 3 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
178561	0.1188	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right testis	UBERON:0004534	91.99	gold quality
left testis	UBERON:0004533	91.77	gold quality
testis	UBERON:0000473	87.87	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	84.47	gold quality
right uterine tube	UBERON:0001302	83.09	gold quality
right lobe of liver	UBERON:0001114	79.00	gold quality
right lobe of thyroid gland	UBERON:0001119	74.80	gold quality
metanephros cortex	UBERON:0010533	74.56	gold quality
mucosa of transverse colon	UBERON:0004991	74.18	gold quality
left lobe of thyroid gland	UBERON:0001120	73.52	gold quality
skin of leg	UBERON:0001511	73.50	gold quality
skin of abdomen	UBERON:0001416	73.12	gold quality
small intestine Peyer’s patch	UBERON:0003454	73.05	gold quality
body of pancreas	UBERON:0001150	72.68	gold quality
minor salivary gland	UBERON:0001830	72.47	gold quality
granulocyte	CL:0000094	72.25	gold quality
body of stomach	UBERON:0001161	71.92	gold quality
left uterine tube	UBERON:0001303	71.81	gold quality
transverse colon	UBERON:0001157	71.73	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	71.65	gold quality
spleen	UBERON:0002106	71.59	gold quality
lower esophagus mucosa	UBERON:0035834	71.45	gold quality
thyroid gland	UBERON:0002046	71.21	gold quality
esophagus mucosa	UBERON:0002469	70.86	gold quality
apex of heart	UBERON:0002098	69.48	gold quality
zone of skin	UBERON:0000014	69.32	gold quality
small intestine	UBERON:0002108	69.06	gold quality
right frontal lobe	UBERON:0002810	68.45	gold quality
right ovary	UBERON:0002118	68.43	gold quality
mouth mucosa	UBERON:0003729	68.33	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.57

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Prr22	ENSMUSG00000090273
rattus_norvegicus	Prr22	ENSRNOG00000047295

Protein

Protein identifiers

Proline-rich protein 22 — Q8IZ63 (reviewed: Q8IZ63)

All UniProt accessions (2): K7EJN8, Q8IZ63

UniProt curated annotations — full annotation on UniProt →

RefSeq proteins (1): NP_001127788* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR031535	PRR22	Family

Pfam: PF15776

UniProt features (8 total): region of interest 3, compositionally biased region 2, chain 1, sequence variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IZ63-F1	52.46	0.01

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 31 (showing top): chr19p13, TOYOTA_TARGETS_OF_MIR34B_AND_MIR34C, MARTENS_TRETINOIN_RESPONSE_DN, ZNF436_TARGET_GENES, ZNF92_TARGET_GENES, HOEK_MONOCYTE_2011_2012_TIV_ADULT_1DY_DN, GSE17974_CTRL_VS_ACT_IL4_AND_ANTI_IL12_0.5H_CD4_TCELL_UP, PEREZ_TP53_TARGETS, CARRILLOREIXACH_HEPATOBLASTOMA_VS_NORMAL_DN, GSE2706_2H_VS_8H_R848_STIM_DC_DN, TGTTTGY_HNF3_Q6, GSE27786_BCELL_VS_MONO_MAC_DN, GSE29614_CTRL_VS_DAY3_TIV_FLU_VACCINE_PBMC_DN, GSE29614_DAY3_VS_DAY7_TIV_FLU_VACCINE_PBMC_UP, GSE29615_DAY3_VS_DAY7_LAIV_FLU_VACCINE_PBMC_DN

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

202 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PRR22	CATSPERD	Q86XM0	580
PRR22	TMEM247	A6NEH6	553
PRR22	ZNF514	Q96K75	479
PRR22	SLC25A41	Q8N5S1	478
PRR22	DUS3L	Q96G46	456
PRR22	YJU2B	P13994	447
PRR22	SPCS1	Q9Y6A9	403
PRR22	A0A0A6YYG8	A0A0A6YYG8	397
PRR22	GRPEL2	Q8TAA5	393
PRR22	ORMDL2	Q53FV1	392
PRR22	RFX2	P48378	392
PRR22	A0A0B4J2G0	A0A0B4J2G0	375
PRR22	GTF2IRD2B	Q6EKJ0	373
PRR22	N4BP2L2	Q92802	372
PRR22	MRPL51	Q4U2R6	371
PRR22	GTF2IRD2	Q86UP8	371

IntAct

6 interactions, top by confidence:

A	B	Type	Score
KRT8	PRR22	psi-mi:“MI:0915”(physical association)	0.400
PRR22	DDI1	psi-mi:“MI:0914”(association)	0.350
PRR22	nrdB	psi-mi:“MI:0915”(physical association)	0.000
PRR22	ubiF	psi-mi:“MI:0915”(physical association)	0.000
PRR22		psi-mi:“MI:0915”(physical association)	0.000

BioGRID (32): PRR22 (Two-hybrid), PRR22 (Two-hybrid), PRR22 (Two-hybrid), PRR22 (Two-hybrid), PRR22 (Two-hybrid), PRR22 (Two-hybrid), PRR22 (Two-hybrid), PRR22 (Two-hybrid), PRR22 (Two-hybrid), PRR22 (Two-hybrid), PRR22 (Two-hybrid), PRR22 (Two-hybrid), PRR22 (Two-hybrid), PRR22 (Two-hybrid), PRR22 (Two-hybrid)

ESM2 similar proteins: A2A9A2, A2D4R4, A2D649, A2T6H5, A2T7H5, D3YWE6, E9PYL2, O15054, O15353, O15417, O35126, O43365, P02831, P18111, P31260, P31310, P47902, P50548, P54259, P70459, P78411, P78413, P78414, P78415, P81066, P81067, P81068, Q08DG7, Q10571, Q2HJ78, Q2VWA4, Q3UHR0, Q5IS70, Q5NCY0, Q5TGY3, Q5U5X8, Q61572, Q64HY5, Q6PAL7, Q6PGH4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	92
Likely benign	7
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

475 predictions. Top by Δscore:

Variant	Effect	Δscore
19:5784529:AC:A	donor_gain	0.9500
19:5784530:CC:C	donor_gain	0.9500
19:5784586:AGCCC:A	donor_gain	0.9300
19:5784524:ATCGT:A	donor_loss	0.9200
19:5784525:TCGTA:T	donor_loss	0.9200
19:5784526:CGTAC:C	donor_loss	0.9200
19:5784528:TA:T	donor_loss	0.9200
19:5784529:ACCCA:A	donor_loss	0.9200
19:5784530:C:A	donor_loss	0.9200
19:5784536:G:C	donor_gain	0.9200
19:5784529:A:AC	donor_gain	0.9000
19:5784530:C:CC	donor_gain	0.9000
19:5784052:ACCTG:A	acceptor_loss	0.8700
19:5784054:CTGTG:C	acceptor_loss	0.8700
19:5784055:T:C	acceptor_loss	0.8700
19:5784056:G:C	acceptor_loss	0.8700
19:5784523:GATC:G	donor_loss	0.8500
19:5784376:CCTG:C	donor_gain	0.8300
19:5783965:CAGGG:C	donor_gain	0.8100
19:5784371:CGGTA:C	donor_loss	0.8000
19:5784372:GGTAC:G	donor_loss	0.8000
19:5784373:GTACC:G	donor_loss	0.8000
19:5784374:TACCT:T	donor_loss	0.8000
19:5784375:A:AC	donor_loss	0.8000
19:5784376:C:A	donor_loss	0.8000
19:5784377:C:A	donor_loss	0.8000
19:5784517:C:T	donor_gain	0.7900
19:5784054:C:CC	acceptor_gain	0.7800
19:5784378:T:A	donor_loss	0.7600
19:5784578:A:AC	donor_gain	0.7600

AlphaMissense

2691 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:5783997:A:G	W84R	0.995
19:5783997:A:T	W84R	0.995
19:5783995:C:A	W84C	0.993
19:5783995:C:G	W84C	0.993
19:5784020:T:C	D76G	0.992
19:5784022:G:C	F75L	0.992
19:5784022:G:T	F75L	0.992
19:5784024:A:G	F75L	0.992
19:5784030:A:G	C73R	0.990
19:5784023:A:G	F75S	0.988
19:5784002:A:T	I82N	0.987
19:5784023:A:C	F75C	0.986
19:5784009:A:C	Y80D	0.983
19:5784002:A:C	I82S	0.982
19:5784028:G:C	C73W	0.981
19:5784050:A:G	F66S	0.981
19:5783382:C:G	A289P	0.980
19:5784014:C:G	R78P	0.978
19:5783243:A:G	L335P	0.977
19:5783368:G:C	F293L	0.977
19:5783368:G:T	F293L	0.977
19:5783370:A:G	F293L	0.977
19:5784036:A:G	C71R	0.977
19:5783996:C:G	W84S	0.976
19:5784020:T:A	D76V	0.976
19:5784029:C:T	C73Y	0.976
19:5784035:C:T	C71Y	0.973
19:5783213:A:C	I345S	0.972
19:5784032:C:A	G72V	0.972
19:5783213:A:G	I345T	0.971

dbSNP variants (sampled 300 via entrez): RS1000014187 (19:5783656 G>A,T), RS1001565377 (19:5786289 C>G), RS1001804489 (19:5785683 G>A), RS1003477091 (19:5784919 C>A), RS1003526643 (19:5784774 G>A,C), RS1004542091 (19:5786585 T>C,G), RS1006360455 (19:5785861 T>A,G), RS1006886821 (19:5786039 T>C), RS1008353061 (19:5786204 C>T), RS1008374410 (19:5784302 C>G,T), RS1009055110 (19:5785292 G>A), RS1009250895 (19:5783229 A>G), RS1010212344 (19:5786117 A>T), RS1010474839 (19:5786030 C>A,G), RS1010500281 (19:5782684 C>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

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

17 total (human), top 17 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
aristolochic acid I	increases expression	1
dicrotophos	increases expression	1
beta-lapachone	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
sodium arsenite	decreases expression	1
butyraldehyde	decreases expression	1
ferrous chloride	decreases expression	1
abrine	increases expression	1
Temozolomide	increases expression	1
Sunitinib	increases expression	1
Benzo(a)pyrene	decreases methylation	1
Diazinon	decreases methylation	1
Rotenone	decreases expression	1
Silicon Dioxide	increases expression	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Valproic Acid	increases methylation	1

Clinical trials (associated diseases)

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