PRR36

Summary

PRR36 (proline rich 36, HGNC:26172) is a protein-coding gene on chromosome 19p13.2, encoding Proline-rich protein 36 (Q9H6K5).

This gene encodes a large protein of unknown function that contains internal regions of low complexity sequence. Alternative splicing results in multiple transcript variants. The transcript structure of the protein-coding variant at this locus is conserved between human and mouse.

Source: NCBI Gene 80164 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 115 total
• MANE Select transcript: NM_001190467

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26172
Approved symbol	PRR36
Name	proline rich 36
Location	19p13.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000183248
Ensembl biotype	protein_coding
Entrez	80164

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000615988, ENST00000618550

RefSeq mRNA: 1 — MANE Select: NM_001190467 NM_001190467

CCDS: CCDS74276

Canonical transcript exons

ENST00000618550 — 6 exons

Exon	Start	End
ENSE00002244773	7868719	7869544
ENSE00003727080	7874286	7874390
ENSE00003729293	7873419	7873696
ENSE00003749474	7869715	7872756
ENSE00003757408	7872849	7872961
ENSE00003760182	7873197	7873299

Expression profiles

Bgee: expression breadth ubiquitous, 140 present calls, max score 94.59.

FANTOM5 (CAGE): breadth broad, TPM avg 4.7943 / max 230.0624, expressed in 635 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
178907	1.9421	449
178909	1.0099	367
178900	0.4824	283
178898	0.3948	227
178899	0.3862	213
178906	0.2958	170
178908	0.1614	76
178901	0.1216	53

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cortical plate	UBERON:0005343	94.59	gold quality
right hemisphere of cerebellum	UBERON:0014890	92.94	gold quality
cerebellar hemisphere	UBERON:0002245	91.66	gold quality
cerebellar cortex	UBERON:0002129	91.62	gold quality
ganglionic eminence	UBERON:0004023	91.59	gold quality
right frontal lobe	UBERON:0002810	90.88	gold quality
cerebellum	UBERON:0002037	89.66	gold quality
pituitary gland	UBERON:0000007	87.57	gold quality
anterior cingulate cortex	UBERON:0009835	87.33	gold quality
cingulate cortex	UBERON:0003027	87.26	gold quality
adenohypophysis	UBERON:0002196	86.88	gold quality
neocortex	UBERON:0001950	86.00	gold quality
prefrontal cortex	UBERON:0000451	85.93	gold quality
frontal cortex	UBERON:0001870	85.92	gold quality
Brodmann (1909) area 9	UBERON:0013540	84.89	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	84.71	gold quality
cerebral cortex	UBERON:0000956	84.01	gold quality
superior frontal gyrus	UBERON:0002661	83.80	gold quality
amygdala	UBERON:0001876	83.35	gold quality
entorhinal cortex	UBERON:0002728	83.34	silver quality
temporal lobe	UBERON:0001871	82.29	gold quality
nucleus accumbens	UBERON:0001882	82.19	gold quality
ventricular zone	UBERON:0003053	82.12	gold quality
brain	UBERON:0000955	81.85	gold quality
forebrain	UBERON:0001890	81.80	gold quality
telencephalon	UBERON:0001893	81.80	gold quality
CA1 field of hippocampus	UBERON:0003881	81.61	silver quality
postcentral gyrus	UBERON:0002581	81.40	gold quality
primary visual cortex	UBERON:0002436	80.24	gold quality
embryo	UBERON:0000922	79.96	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.79

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

17 targeting PRR36, 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-4685-5P	99.25	65.99	1563
HSA-MIR-6837-5P	99.25	65.47	1632
HSA-MIR-3196	98.96	63.91	326
HSA-MIR-6816-5P	98.46	64.35	364
HSA-MIR-3180	98.46	64.68	348
HSA-MIR-3180-3P	98.46	64.68	348
HSA-MIR-484	98.16	66.92	1074
HSA-MIR-3155A	98.16	66.09	965
HSA-MIR-3155B	98.16	66.09	965
HSA-MIR-3657	96.33	66.29	608
HSA-MIR-6726-5P	95.97	63.72	841
HSA-MIR-920	95.97	63.95	811
HSA-MIR-4300	95.85	64.56	1003
HSA-MIR-5591-5P	95.85	64.76	1002
HSA-MIR-744-5P	93.78	65.29	230
HSA-MIR-10396A-5P	93.49	65.54	172
HSA-MIR-4508	90.37	59.62	240

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	prr36a	ENSDARG00000069595
mus_musculus	Prr36	ENSMUSG00000064125
rattus_norvegicus	Prr36	ENSRNOG00000028892

Paralogs (1): BTBD8 (ENSG00000189195)

Protein

Protein identifiers

Proline-rich protein 36 — Q9H6K5 (reviewed: Q9H6K5)

All UniProt accessions (2): A0A096LNU1, Q9H6K5

UniProt curated annotations — full annotation on UniProt →

Isoforms (2)

UniProt ID	Names	Canonical?
Q9H6K5-1	1	yes
Q9H6K5-2	2

RefSeq proteins (1): NP_001177396* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR027907	BTBD8_C	Domain

Pfam: PF15363

UniProt features (40 total): compositionally biased region 30, region of interest 6, chain 1, modified residue 1, splice variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H6K5-F1	42.56	0.00

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): 1310

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 40 (showing top): chr19p13, GSE13762_CTRL_VS_125_VITAMIND_DAY12_DC_UP, DOANE_BREAST_CANCER_ESR1_UP, MIKKELSEN_MEF_HCP_WITH_H3K27ME3, KIM_ALL_DISORDERS_OLIGODENDROCYTE_NUMBER_CORR_UP, CHARAFE_BREAST_CANCER_LUMINAL_VS_BASAL_UP, NFE2L2.V2, GSE10240_CTRL_VS_IL22_STIM_PRIMARY_BRONCHIAL_EPITHELIAL_CELLS_UP, GSE10240_IL22_VS_IL22_AND_IL17_STIM_PRIMARY_BRONCHIAL_EPITHELIAL_CELLS_DN, GSE13306_RA_VS_UNTREATED_MEM_CD4_TCELL_DN, GSE13411_NAIVE_VS_SWITCHED_MEMORY_BCELL_UP, MIR3180_MIR3180_3P, MIR6816_5P, MIR3196, GSE13485_CTRL_VS_DAY21_YF17D_VACCINE_PBMC_DN

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

584 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PRR36	EVI5L	Q96CN4	507
PRR36	BLTP3B	A0JNW5	506
PRR36	PCDHGB3	Q9Y5G1	505
PRR36	PCDHGB1	Q9Y5G3	478
PRR36	PCDHGA5	Q9Y5G8	478
PRR36	ARHGEF38	Q9NXL2	448
PRR36	PCDHGA4	Q9Y5G9	448
PRR36	PCDHGB2	Q9Y5G2	447
PRR36	PCDHGA6	Q9Y5G7	436
PRR36	PCDHGA2	Q9Y5H1	434
PRR36	PCDHGA3	Q9Y5H0	430
PRR36	PCDHGA1	Q9Y5H4	400
PRR36	LYPLA2	O95372	379
PRR36	RNPEP	Q9H4A4	362
PRR36	SPAG6	O75602	317

IntAct

14 interactions, top by confidence:

A	B	Type	Score
FBXW7	MYCBP2	psi-mi:“MI:0914”(association)	0.640
PRR36	DNAJB11	psi-mi:“MI:0915”(physical association)	0.400
ARHGAP21	PRR36	psi-mi:“MI:0915”(physical association)	0.400
PRR36	NPSR1	psi-mi:“MI:0915”(physical association)	0.370
APP	ESYT2	psi-mi:“MI:0914”(association)	0.350
FBXW7	MYCBP2	psi-mi:“MI:0914”(association)	0.350
FZR1	TK1	psi-mi:“MI:0914”(association)	0.350
ARHGAP21	CTNND1	psi-mi:“MI:0914”(association)	0.350
FZR1	CDK1	psi-mi:“MI:0914”(association)	0.350
FBXW7	KMT2D	psi-mi:“MI:0914”(association)	0.350
SERBP1	ZNF593	psi-mi:“MI:0914”(association)	0.350
SH3KBP1	ARHGAP10	psi-mi:“MI:0914”(association)	0.350

ESM2 similar proteins: A0A1B0GTH6, A0A1B0GUW6, A0A1D5RMD1, A1EGX6, A2AQH4, A4FU49, C4P6S0, E9PAV3, I3L273, J3KML8, O15027, P27546, P27816, P36225, P70670, Q32KG4, Q3UNH4, Q3V0E1, Q3V3Q4, Q4R729, Q4V7A4, Q5H9F3, Q5M7W5, Q5SW25, Q5SWP3, Q5VV67, Q5VYM1, Q66HG9, Q68DN1, Q6AZ54, Q7TSG5, Q7Z2K8, Q7Z434, Q810T2, Q8BUE7, Q8K4E0, Q8N1P7, Q8N3K9, Q8N5Q1, Q8TCU4

Diamond homologs: D3YUB6, D4A0X3, Q5XKL5, Q9H6K5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	102
Likely benign	9
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

993 predictions. Top by Δscore:

Variant	Effect	Δscore
19:7869709:CCTTA:C	donor_loss	1.0000
19:7869710:CTTAC:C	donor_loss	1.0000
19:7869711:TTACC:T	donor_loss	1.0000
19:7869712:TAC:T	donor_loss	1.0000
19:7869713:ACCT:A	donor_loss	1.0000
19:7869714:C:CT	donor_loss	1.0000
19:7872568:T:TA	donor_gain	1.0000
19:7872844:CGTA:C	donor_loss	1.0000
19:7872845:GTACC:G	donor_loss	1.0000
19:7872846:TACCT:T	donor_loss	1.0000
19:7872847:A:AG	donor_loss	1.0000
19:7872848:CCT:C	donor_gain	1.0000
19:7872848:CCTCT:C	donor_gain	1.0000
19:7872957:CTGGC:C	acceptor_gain	1.0000
19:7872962:C:CC	acceptor_gain	1.0000
19:7869540:CGCAC:C	acceptor_gain	0.9900
19:7869541:GCACC:G	acceptor_loss	0.9900
19:7869542:CAC:C	acceptor_gain	0.9900
19:7869543:AC:A	acceptor_gain	0.9900
19:7869543:ACC:A	acceptor_loss	0.9900
19:7869544:CC:C	acceptor_gain	0.9900
19:7869544:CCT:C	acceptor_loss	0.9900
19:7869545:C:CC	acceptor_gain	0.9900
19:7869546:T:G	acceptor_loss	0.9900
19:7869713:A:AC	donor_gain	0.9900
19:7869714:C:CC	donor_gain	0.9900
19:7872376:T:TA	donor_gain	0.9900
19:7872618:A:AC	donor_gain	0.9900
19:7872619:C:CC	donor_gain	0.9900
19:7872847:A:AC	donor_gain	0.9900

AlphaMissense

8221 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:7869063:C:A	W1337C	0.999
19:7869063:C:G	W1337C	0.999
19:7869065:A:G	W1337R	0.999
19:7869065:A:T	W1337R	0.999
19:7869099:G:C	F1325L	0.999
19:7869099:G:T	F1325L	0.999
19:7869101:A:G	F1325L	0.999
19:7869109:A:T	V1322D	0.999
19:7869118:A:T	I1319N	0.999
19:7869159:C:A	W1305C	0.999
19:7869159:C:G	W1305C	0.999
19:7869161:A:G	W1305R	0.999
19:7869161:A:T	W1305R	0.999
19:7869295:A:G	L1260P	0.999
19:7869118:A:C	I1319S	0.998
19:7869118:A:G	I1319T	0.998
19:7869039:G:C	F1345L	0.997
19:7869039:G:T	F1345L	0.997
19:7869041:A:G	F1345L	0.997
19:7869100:A:G	F1325S	0.997
19:7869113:A:G	S1321P	0.997
19:7869100:A:C	F1325C	0.996
19:7869151:A:G	L1308P	0.996
19:7869160:C:G	W1305S	0.996
19:7869292:A:G	L1261P	0.996
19:7869484:A:T	I1197N	0.996
19:7869064:C:G	W1337S	0.995
19:7869058:A:T	V1339E	0.994
19:7869102:G:C	S1324R	0.994
19:7869102:G:T	S1324R	0.994

dbSNP variants (sampled 300 via entrez): RS1000194495 (19:7871892 G>A), RS1000387364 (19:7872471 G>A), RS1000936084 (19:7873449 G>A), RS1001016938 (19:7875016 G>A), RS1001733842 (19:7874922 G>A,T), RS1001941065 (19:7875291 C>G,T), RS1002014758 (19:7874920 G>A,T), RS1002186090 (19:7874555 T>C), RS1002843544 (19:7869289 C>T), RS1003100345 (19:7873953 T>A,C,G), RS1003304969 (19:7869595 G>A), RS1004693591 (19:7872556 C>A,G,T), RS1004854662 (19:7872933 G>A,T), RS1005310282 (19:7869617 T>A,C), RS1005460780 (19:7876034 G>C)

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
GCST011346_36	Total cholesterol levels	6.000000e-16
GCST011347_56	Low density lipoprotein cholesterol levels	3.000000e-19

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004574	total cholesterol measurement
EFO:0004611	low density lipoprotein cholesterol measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

13 total (human), top 13 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
afuresertib	increases expression	1
6,7-dimethoxy-2-(pyrrolidin-1-yl)-N-(5-(pyrrolidin-1-yl)pentyl)quinazolin-4-amine	decreases expression	1
FR900359	increases phosphorylation	1
abrine	decreases expression	1
Vorinostat	decreases expression	1
Caffeine	increases phosphorylation	1
Carbamazepine	affects expression	1
Estradiol	decreases expression, affects cotreatment	1
Niclosamide	increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Triclosan	increases expression	1
Antirheumatic Agents	increases expression	1
Cadmium Chloride	decreases expression	1

Clinical trials (associated diseases)

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