PLLP

protein-coding

plasmolipin, the group of MARVEL domain containing|Tetraspan junctional complex superfamily

Gene summary

Enables identical protein binding activity. Involved in myelin assembly and regulation of transcytosis. Located in myelin sheath and plasma membrane. Biomarker of schizophrenia. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

TM4SF11

MANE transcript

NM_015993.3

Inheritance

—

ClinVar variants

U:31B:1

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.56

Max pathogenic AF

—

Genomic locus

chr16:57,248,547-57,284,672

External References & Databases

Ensembl (ENSG00000102934)

Transcript & Mutation Effects

hg38 • Region Span ~36.1 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 PLLP variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 31

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_015993.3. 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						0
missense			30 clinvar	1 clinvar		31
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	31	1	0	32

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 19 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_015993.3	RefSeq	NP_057077.1	4	MANE Select
ENST00000219207.10	Ensembl	ENSP00000219207.5	4	MANE Select
ENST00000564018.1	Ensembl	ENSP00000463575.1	3	Standard
ENST00000569059.5	Ensembl	ENSP00000454656.1	3	Standard

Model Organisms & Knockout Phenotypes

Observed phenotypic effects in mouse and zebrafish models

Gene / Model	Organism	Observed Phenotype
pllp	Danio rerio	Structure: enterocyte Quality: mislocalised radially abnormal

Gene / Model

Organism

Observed Phenotype

pllp

Danio rerio

Structure: enterocyte

Quality: mislocalised radially

abnormal

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

ion transport
response to wounding
myelination

Molecular Function

protein binding
structural constituent of myelin sheath

Cellular Component

integral component of membrane
compact myelin
membrane raft

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000219207
Coding exons: 4
Length: 28596
Individuals with no LoFs: 125740
Homozygous LoFs: 0
Heterozygous LoFs: 7
Defined: 125747
p: 0.0000278

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.874	84	110	0.765	0.00000677	1142
Missense (PolyPhen)		26	38.321	0.67847		414
Synonymous	0.400	47	50.6	0.928	0.00000345	385
Loss of Function	1.10	4	7.17	0.558	3.06e-7	82

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000062	0.000062	rare
Latino/Admixed American	0.000029	0.000029	rare
Ashkenazi Jewish	0.000099	0.000099	rare
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.000018	0.000018	rare
South Asian	0.000065	0.000065	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Appears to be involved in myelination. Could also participate in ion transport events as addition of plasmolipin to lipid bilayers induces the formation of ion channels, which are voltage-dependent and K(+)-selective (By similarity). {ECO:0000250}.;

Recessive Scores

pRec: 0.125

Intolerance Scores

LoFtool: 0.138
RVIS EVS: -0.12
RVIS percentile EVS: 44.89

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.677

Gene Damage Prediction

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