PIP

protein-coding

prolactin induced protein

Gene summary

Enables IgG binding activity; aspartic-type endopeptidase activity; and identical protein binding activity. Involved in several processes, including detection of chemical stimulus involved in sensory perception of bitter taste; negative regulation of T cell apoptotic process; and proteolysis. Located in nucleus and obsolete extracellular space. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_002652.3

Inheritance

—

ClinVar variants

U:13B:7

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.86

Max pathogenic AF

—

Genomic locus

chr7:143,132,077-143,139,739

External References & Databases

Transcript & Mutation Effects

hg38 • Region Span ~7.7 kb
Loading mutation effect viewer...

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 PIP variants in ClinVar

2 Conditions Cataloged
not specifiedTotal: 14
not providedTotal: 4

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_002652.3. 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.

EffectPLPVUSLBBSum
synonymous
2
clinvar
2
missense
11
clinvar
4
clinvar
1
clinvar
16
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
2
clinvar
2
Total00134320
Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 4 transcripts
Transcript IDSourceProtein IDCoding ExonsMANE Status
NM_002652.3RefSeqNP_002643.14MANE Select
ENST00000291009.4EnsemblENSP00000291009.34MANE Select
ENST00001091657.1EnsemblENSP00000761463.14Standard
ENST00001134719.1EnsemblENSP00000804803.14Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

  • Transport of small molecules
  • Miscellaneous transport and binding events

Biological Process

  • detection of chemical stimulus involved in sensory perception of bitter taste
  • retina homeostasis
  • proteolysis
  • positive regulation of gene expression
  • transmembrane transport

Molecular Function

  • actin binding
  • aspartic-type endopeptidase activity
  • protein binding
  • IgG binding
  • protein dimerization activity

Cellular Component

  • extracellular region
  • extracellular space
  • nucleus
  • extracellular exosome

gnomAD Constraint

Source: gnomAD

Gene type
protein_coding
Transcript type
protein_coding
Transcript
ENST00000291009
Coding exons
4
Length
7670
Individuals with no LoFs
125617
Homozygous LoFs
3
Heterozygous LoFs
116
Defined
125736
p
0.000473
Z-ScoreObservedExpectedObserved/ExpectedMutation RateTotal Possible
Missense-0.1898984.11.060.00000478952
Missense (PolyPhen)2726.8021.0074300
Synonymous-0.05103130.61.010.00000157284
Loss of Function0.31855.830.8583.45e-763

Population LoF Frequency

PopulationCAFp-valueStatus
African00.0absent
Latino/Admixed American00.0absent
Ashkenazi Jewish00.0absent
East Asian0.00140.0014notable
Finnish0.00200.0019notable
European (Non-Finnish)0.000330.00032rare
South Asian0.0000660.000065rare
Other0.00240.0023notable

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

LoFtool
0.666
RVIS EVS
1.06
RVIS percentile EVS
91.47

Essentials

Essential (CRISPR)
N
Essential (CRISPR2)
N
Essential (gene trap)
N
Indispensability pred.
N
Indispensability score
0.147

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium
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