PPIG

protein-coding

peptidylprolyl isomerase G, the group of Cyclophilin peptidylprolyl isomerases|Spliceosomal C complex|Spliceosomal P complex

Gene summary

Enables peptidyl-prolyl cis-trans isomerase activity. Predicted to be involved in protein folding. Located in nuclear speck. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_004792.3

Inheritance

—

ClinVar variants

U:77B:7

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.17

Max pathogenic AF

—

Genomic locus

chr2:169,584,342-169,641,406

External References & Databases

Ensembl (ENSG00000138398)

Transcript & Mutation Effects

hg38 • Region Span ~57.1 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to PPIG variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 69

not providedTotal: 6

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_004792.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			3 clinvar	2 clinvar	3 clinvar	8
missense			69 clinvar	1 clinvar	1 clinvar	71
nonsense						0
start loss			1 clinvar			1
frameshift						0
splice donor/acceptor (+/-2bp)			4 clinvar			4
Total	0	0	77	3	4	84

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 66 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_004792.3	RefSeq	NP_004783.2	12	MANE Select
ENST00000260970.8	Ensembl	ENSP00000260970.3	12	MANE Select
ENST00000409714.7	Ensembl	ENSP00000386245.3	11	Standard
ENST00000409714.8	Ensembl	ENSP00000386245.3	11	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Methionine and cysteine metabolism

Biological Process

protein peptidyl-prolyl isomerization
RNA splicing
protein refolding

Molecular Function

RNA binding
peptidyl-prolyl cis-trans isomerase activity
protein binding
cyclosporin A binding
unfolded protein binding

Cellular Component

cytosol
nuclear matrix
nuclear speck

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000260970
Coding exons: 12
Length: 57067
Individuals with no LoFs: 125694
Homozygous LoFs: 0
Heterozygous LoFs: 51
Defined: 125745
p: 0.000203

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.72	289	384	0.753	0.0000200	5026
Missense (PolyPhen)		17	63.884	0.26611		776
Synonymous	-1.20	141	124	1.14	0.00000610	1252
Loss of Function	4.93	7	41.1	0.170	0.00000259	533

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00019	0.00018	rare
Latino/Admixed American	0.00056	0.00052	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00028	0.00027	rare
Finnish	0.000094	0.000092	rare
European (Non-Finnish)	0.00014	0.00014	rare
South Asian	0.00021	0.00020	rare
Other	0.00017	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: PPIase that catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and may therefore assist protein folding (PubMed:20676357). May be implicated in the folding, transport, and assembly of proteins. May play an important role in the regulation of pre-mRNA splicing. {ECO:0000269|PubMed:20676357}.;

Recessive Scores

pRec: 0.518

Intolerance Scores

LoFtool: 0.847
RVIS EVS: 0.02
RVIS percentile EVS: 55.69

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.818

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	High
Cancer	High	Medium	High