WASH4P

pseudo

WASP family homolog 4, pseudogene, the group of Wiskott-Aldrich Syndrome protein family

Gene summary

Predicted to enable alpha-tubulin binding activity. Predicted to be involved in Arp2/3 complex-mediated actin nucleation; endosomal transport; and exocytosis. Predicted to be located in early endosome membrane. Predicted to be part of WASH complex. Predicted to be active in early endosome and recycling endosome. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

FAM39CP

MANE transcript

N/A

Inheritance

—

ClinVar variants

—

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.62

Max pathogenic AF

—

Genomic locus

chr16:14,381-18,068

External References & Databases

Ensembl (ENSG00000234769)

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 WASH4P variants in ClinVar

1 Conditions Cataloged

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript . 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
synonymous
missense
nonsense
start loss
frameshift
splice donor/acceptor (+/-2bp)
Total	0	0	0	0	0

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 0 of 0 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
No transcripts match your selected source or search query.

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

endosomal transport
Arp2/3 complex-mediated actin nucleation
retrograde transport, endosome to Golgi

Molecular Function

actin binding
alpha-tubulin binding

Cellular Component

early endosome
cytosol
early endosome membrane
recycling endosome
recycling endosome membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000326592
Coding exons: 10
Length: 5410
Individuals with no LoFs: 105753
Homozygous LoFs: 0
Heterozygous LoFs: 5
Defined: 105758
p: 0.0000236

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.342	132	121	1.09	0.00000705	2924
Missense (PolyPhen)		48	38.803	1.237		857
Synonymous	-1.05	58	48.7	1.19	0.00000292	905
Loss of Function	0.997	5	8.05	0.621	3.41e-7	224

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00023	0.00023	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0	0.0	absent
South Asian	0	0.0	absent
Other	0.00019	0.00019	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May act as a nucleation-promoting factor at the surface of endosomes, where it recruits and activates the Arp2/3 complex to induce actin polymerization, playing a key role in the fission of tubules that serve as transport intermediates during endosome sorting. {ECO:0000250|UniProtKB:A8K0Z3, ECO:0000250|UniProtKB:C4AMC7}.;

Essentials

Indispensability pred.: N
Indispensability score: 0.0443

Gene Damage Prediction

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