PPDPFL

Summary

PPDPFL (pancreatic progenitor cell differentiation and proliferation factor like, HGNC:31745) is a protein-coding gene on chromosome 8q11.21, encoding Pancreatic progenitor cell differentiation and proliferation factor-like protein (Q8WWR9).

Predicted to be involved in cell differentiation.

Source: NCBI Gene 492307 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 3 total — 1 pathogenic
• MANE Select transcript: NM_001256597

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:31745
Approved symbol	PPDPFL
Name	pancreatic progenitor cell differentiation and proliferation factor like
Location	8q11.21
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000168333
Ensembl biotype	protein_coding
Entrez	492307

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 6 protein_coding

ENST00000303202, ENST00000399653, ENST00000517663, ENST00000522267, ENST00000957351, ENST00000957352

RefSeq mRNA: 4 — MANE Select: NM_001256597 NM_001007176, NM_001256596, NM_001256597, NM_001256598

CCDS: CCDS47854, CCDS59101, CCDS59102

Canonical transcript exons

ENST00000522267 — 5 exons

Exon	Start	End
ENSE00001151275	49074234	49074333
ENSE00001151282	49072787	49072885
ENSE00001155239	49074059	49074136
ENSE00001155248	49072344	49072482
ENSE00002116270	49075152	49076093

Expression profiles

Bgee: expression breadth ubiquitous, 136 present calls, max score 99.87.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 3.8611 / max 2682.3970, expressed in 52 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
88802	3.8517	51
88801	0.0094	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
tibialis anterior	UBERON:0001385	99.87	gold quality
deltoid	UBERON:0001476	99.72	gold quality
quadriceps femoris	UBERON:0001377	99.57	gold quality
vastus lateralis	UBERON:0001379	99.54	gold quality
biceps brachii	UBERON:0001507	99.40	gold quality
hindlimb stylopod muscle	UBERON:0004252	99.28	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	99.25	gold quality
skeletal muscle tissue	UBERON:0001134	98.95	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	98.38	gold quality
gastrocnemius	UBERON:0001388	97.59	gold quality
body of tongue	UBERON:0011876	97.26	gold quality
skeletal muscle organ	UBERON:0014892	96.79	gold quality
muscle of leg	UBERON:0001383	96.12	gold quality
muscle tissue	UBERON:0002385	89.11	gold quality
tongue	UBERON:0001723	87.94	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	85.00	gold quality
pharyngeal mucosa	UBERON:0000355	76.82	gold quality
superior surface of tongue	UBERON:0007371	74.11	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	71.09	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	66.53	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	61.39	gold quality
subcutaneous adipose tissue	UBERON:0002190	59.49	gold quality
spinal cord	UBERON:0002240	59.49	gold quality
synovial joint	UBERON:0002217	58.60	gold quality
skin of leg	UBERON:0001511	58.57	gold quality
tibial artery	UBERON:0007610	58.17	gold quality
popliteal artery	UBERON:0002250	58.12	gold quality
jejunum	UBERON:0002115	57.29	gold quality
skin of abdomen	UBERON:0001416	56.93	gold quality
minor salivary gland	UBERON:0001830	56.66	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.88

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

46 targeting PPDPFL, 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-4795-3P	100.00	74.62	4024
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-223-3P	99.99	70.14	1140
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-6888-3P	99.97	65.95	1170
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-3910	99.95	71.13	2227
HSA-MIR-3143	99.93	71.96	3104
HSA-MIR-10523-5P	99.91	69.22	2038
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-576-5P	99.84	70.46	2582
HSA-MIR-8076	99.78	68.52	1170
HSA-MIR-7856-5P	99.75	69.99	2901
HSA-MIR-494-3P	99.70	71.45	2795
HSA-MIR-379-3P	99.69	69.60	1524
HSA-MIR-411-3P	99.69	69.63	1524
HSA-MIR-1284	99.67	73.56	1353
HSA-MIR-7157-5P	99.66	69.33	1829
HSA-MIR-6762-3P	99.66	66.94	1188
HSA-MIR-4743-3P	99.62	68.12	2095
HSA-MIR-5003-5P	99.61	69.13	1624
HSA-MIR-4516	99.61	67.78	3390
HSA-MIR-4310	99.59	68.84	2527
HSA-MIR-4328	99.57	71.06	4094
HSA-MIR-1252-3P	99.55	67.71	2862
HSA-MIR-6740-3P	99.48	68.49	1392

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
danio_rerio	ppdpfa	ENSDARG00000007682
danio_rerio	ppdpfb	ENSDARG00000031317

Paralogs (1): PPDPF (ENSG00000125534)

Protein

Protein identifiers

Pancreatic progenitor cell differentiation and proliferation factor-like protein — Q8WWR9 (reviewed: Q8WWR9)

Alternative names: Exocrine differentiation and proliferation factor-like protein

All UniProt accessions (1): Q8WWR9

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the PPDPF family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q8WWR9-1	1	yes
Q8WWR9-2	2
Q8WWR9-3	3

RefSeq proteins (4): NP_001007177, NP_001243525, NP_001243526, NP_001243527 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026754	PPDPF	Family

Pfam: PF15060

UniProt features (3 total): splice variant 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8WWR9-F1	61.99	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 33 (showing top): chr8q11, FORTSCHEGGER_PHF8_TARGETS_UP, MIR1277_5P, MIR4795_3P, MIR3688_3P, MIR4311, MIR3119, MIR3910, MIR4310, MIR4668_3P, MIR580_5P, MIR7157_5P, MIR5003_5P, MIR379_3P_MIR411_3P, MIR4735_5P

GO Biological Process (2): cell differentiation (GO:0030154), multicellular organism development (GO:0007275)

GO Molecular Function (0):

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular developmental process	1
multicellular organismal process	1
anatomical structure development	1

Protein interactions and networks

STRING

198 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PPDPFL	LYPD2	Q6UXB3	485
PPDPFL	ASPNAT	Q8N9F0	462
PPDPFL	CFAP95	Q5VTT2	413
PPDPFL	NKX6-3	A6NJ46	399
PPDPFL	SPINK6	Q6UWN8	396
PPDPFL	PALM2AKAP2	Q9Y2D5	387
PPDPFL	SVOPL	Q8N434	348
PPDPFL	PPDPF	Q9H3Y8	331
PPDPFL	PCOLCE2	Q9UKZ9	316
PPDPFL	MYOZ3	Q8TDC0	312
PPDPFL	TMEM45B	Q96B21	299
PPDPFL	CPNE6	O95741	294
PPDPFL	TUSC3	Q13454	279
PPDPFL	ADAMTS8	Q9UP79	278
PPDPFL	ACTN3	Q08043	275

IntAct

2 interactions, top by confidence:

A	B	Type	Score
PPDPFL	PCBP4	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (1): PCBP4 (Affinity Capture-MS)

ESM2 similar proteins: A0A1I9LQ12, B1B5D5, B9DGG8, F4HV65, F4J8V5, F4JHN2, O64851, O64852, O82645, P0DO24, Q058N0, Q29PZ2, Q2NND9, Q4PSK3, Q5HZ09, Q5JKN2, Q5NB83, Q5T8I3, Q69P88, Q7XA83, Q84U09, Q8BQS4, Q8GRN0, Q8GY65, Q8GYX2, Q8L7S5, Q8L9W8, Q8S307, Q8S8I1, Q8WWR9, Q945P6, Q94AR4, Q94B71, Q966L3, Q9C593, Q9C690, Q9CA36, Q9CAI2, Q9FJF5, Q9FLX4

Diamond homologs: A4IGU9, B5DGK1, Q0IHF8, Q3ZCB6, Q5PR01, Q6PBI2, Q6PFP3, Q8AVU0, Q8WWR9, Q9CR37, Q9H3Y8, A8E653

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
662275	NC_000008.10:g.(?48270390)(49987806_?)del	Pathogenic

SpliceAI

569 predictions. Top by Δscore:

Variant	Effect	Δscore
8:49074563:TGGAG:T	donor_gain	1.0000
8:49074624:A:T	donor_gain	1.0000
8:49072480:TCGGT:T	donor_loss	0.9900
8:49072483:G:GG	donor_gain	0.9900
8:49072483:GT:G	donor_loss	0.9900
8:49072484:T:G	donor_loss	0.9900
8:49072883:GAA:G	donor_gain	0.9900
8:49072886:G:GG	donor_gain	0.9900
8:49074057:A:AG	acceptor_gain	0.9900
8:49074058:G:GG	acceptor_gain	0.9900
8:49074058:GA:G	acceptor_gain	0.9900
8:49074228:TAATA:T	acceptor_loss	0.9900
8:49074230:ATAGG:A	acceptor_loss	0.9900
8:49074231:TA:T	acceptor_loss	0.9900
8:49074232:AG:A	acceptor_gain	0.9900
8:49074233:GG:G	acceptor_gain	0.9900
8:49074233:GGGTT:G	acceptor_gain	0.9900
8:49074564:GGAGA:G	donor_gain	0.9900
8:49074628:GGTC:G	donor_gain	0.9900
8:49072786:GATT:G	acceptor_gain	0.9800
8:49072786:GATTA:G	acceptor_gain	0.9800
8:49074232:A:AG	acceptor_gain	0.9800
8:49074233:G:GG	acceptor_gain	0.9800
8:49074332:GG:G	donor_gain	0.9800
8:49074333:GG:G	donor_gain	0.9800
8:49072478:AATCG:A	donor_gain	0.9700
8:49072779:T:A	acceptor_gain	0.9700
8:49074331:TGGG:T	donor_loss	0.9700
8:49074332:GGGTG:G	donor_loss	0.9700
8:49074334:G:GA	donor_loss	0.9700

AlphaMissense

540 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:49074263:T:A	W55R	0.977
8:49074263:T:C	W55R	0.977
8:49072855:T:C	C9R	0.948
8:49072853:G:A	G8D	0.942
8:49072852:G:C	G8R	0.933
8:49072883:G:C	R18P	0.930
8:49072844:C:A	P5H	0.922
8:49072844:C:T	P5L	0.921
8:49072841:T:A	V4E	0.918
8:49072865:C:A	A12D	0.918
8:49072844:C:G	P5R	0.915
8:49074265:G:C	W55C	0.911
8:49074265:G:T	W55C	0.911
8:49072853:G:T	G8V	0.909
8:49072857:C:G	C9W	0.908
8:49072859:T:C	L10P	0.906
8:49072859:T:A	L10H	0.889
8:49074276:T:C	F59S	0.887
8:49072835:C:A	A2E	0.886
8:49074278:T:C	F60L	0.883
8:49074280:C:A	F60L	0.883
8:49074280:C:G	F60L	0.883
8:49072876:T:G	Y16D	0.881
8:49074275:T:C	F59L	0.870
8:49074277:T:A	F59L	0.870
8:49074277:T:G	F59L	0.870
8:49072877:A:C	Y16S	0.868
8:49074064:A:C	S21R	0.866
8:49074066:T:A	S21R	0.866
8:49074066:T:G	S21R	0.866

dbSNP variants (sampled 300 via entrez): RS1000054243 (8:49063837 G>A,C,T), RS1000360788 (8:49052898 A>C,G,T), RS1000531519 (8:49064160 C>T), RS1000571989 (8:49068429 T>C), RS1000772908 (8:49052631 A>C,G), RS1000900417 (8:49072826 A>G), RS1000903807 (8:49057095 C>T), RS1001136525 (8:49062962 A>G), RS1001201014 (8:49074728 T>A), RS1001215957 (8:49057931 C>T), RS1001412479 (8:49066520 C>T), RS1001703783 (8:49063690 C>T), RS1001853292 (8:49074073 T>C), RS1002181895 (8:49066805 G>A), RS1002220100 (8:49056313 A>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

1 associations (top):

Study	Trait	p-value
GCST012020_401	Serum metabolite levels	9.000000e-11

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

14 total (human), top 14 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Nickel	decreases expression	2
Aflatoxin B1	affects expression, increases methylation	2
hydroxyhydroquinone	decreases expression	1
sodium arsenite	increases expression	1
butyraldehyde	increases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
pentanal	increases expression	1
Poly(amidoamine)	increases expression	1
Benzo(a)pyrene	affects methylation	1
Lipopolysaccharides	affects response to substance, increases expression	1
Malathion	increases expression	1
Silicon Dioxide	decreases expression	1
Cyclosporine	increases expression	1
Okadaic Acid	decreases expression	1

Clinical trials (associated diseases)

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