STRBP

protein-coding

spermatid perinuclear RNA binding protein

Gene summary

Enables RNA binding activity. Predicted to be involved in cell differentiation and spermatogenesis. Predicted to act upstream of or within cell motility; mechanosensory behavior; and spermatid development. Located in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

ILF3L

MANE transcript

NM_018387.5

Inheritance

—

ClinVar variants

U:61B:1

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.08

Max pathogenic AF

—

Genomic locus

chr9:123,109,500-123,268,586

External References & Databases

Ensembl (ENSG00000165209)

Transcript & Mutation Effects

hg38 • Region Span ~159.1 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 STRBP variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 49

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_018387.5. 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			2 clinvar	1 clinvar		3
missense			52 clinvar			52
nonsense			2 clinvar			2
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)			4 clinvar			4
Total	0	0	61	1	0	62

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 60 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_018387.5	RefSeq	NP_060857.2	17	MANE Select
ENST00000348403.10	Ensembl	ENSP00000321347.7	17	MANE Select
NM_001171137.2	RefSeq	NP_001164608.1	16	Standard
NM_001376106.1	RefSeq	NP_001363035.1	17	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

multicellular organism development
spermatid development
mechanosensory behavior

Molecular Function

DNA binding
RNA binding
double-stranded RNA binding
single-stranded RNA binding
protein binding

Cellular Component

manchette
nucleus
cytoplasm

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000447404
Coding exons: 17
Length: 159077
Individuals with no LoFs: 125725
Homozygous LoFs: 0
Heterozygous LoFs: 7
Defined: 125732
p: 0.0000278

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	3.48	176	362	0.486	0.0000183	4367
Missense (PolyPhen)		49	149.61	0.32752		1824
Synonymous	1.33	113	132	0.853	0.00000713	1310
Loss of Function	5.06	3	35.6	0.0843	0.00000190	460

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00013	0.00012	rare
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.000026	0.000026	rare
South Asian	0	0.0	absent
Other	0.00035	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Involved in spermatogenesis and sperm function. Plays a role in regulation of cell growth. Binds to double-stranded DNA and RNA. Binds most efficiently to poly(I:C) RNA than to poly(dI:dC) DNA. Binds also to single-stranded poly(G) RNA. Binds non-specifically to the mRNA PRM1 3'-UTR and adenovirus VA RNA (By similarity). {ECO:0000250}.;

Recessive Scores

pRec: 0.111

Intolerance Scores

LoFtool: 0.289
RVIS EVS: -0.45
RVIS percentile EVS: 24.19

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Indispensability pred.: E
Indispensability score: 0.967

Gene Damage Prediction

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