ITPRIPL1

protein-coding

ITPRIP like 1

Gene summary

Enables receptor ligand activity. Involved in negative regulation of T cell receptor signaling pathway. Located in membrane. Is active in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

KIAA1754L

MANE transcript

NM_001008949.3

Inheritance

—

ClinVar variants

U:92B:2

Top phenotype

Prostate cancer

gnomAD constraint

pLI —, LoF o/e 0.9

Max pathogenic AF

—

Genomic locus

chr2:96,325,317-96,330,517

External References & Databases

Ensembl (ENSG00000198885)

Transcript & Mutation Effects

hg38 • Region Span ~5.2 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 ITPRIPL1 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 89

not providedTotal: 3

Prostate cancerTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001008949.3. 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			1 clinvar			1
missense			91 clinvar	2 clinvar		93
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	92	2	0	94

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 17 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001008949.3	RefSeq	NP_001008949.1	2	MANE Select
ENST00000439118.3	Ensembl	ENSP00000389308.2	2	MANE Select
NM_001163523.2	RefSeq	NP_001156995.1	1	Standard
NM_001163524.1	RefSeq	NP_001156996.1	1	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

protein binding

Cellular Component

membrane
integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000361124
Coding exons: 1
Length: 3023
Individuals with no LoFs: 0
Homozygous LoFs: 0
Heterozygous LoFs: 0
Defined: 0
p: 0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.526	298	325	0.918	0.0000188	3700
Missense (PolyPhen)		129	129.21	0.99837		1532
Synonymous	1.73	105	130	0.807	0.00000681	1156
Loss of Function	0.392	16	17.8	0.900	0.00000115	178

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	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0	0.0	absent
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.100

Intolerance Scores

LoFtool: 0.986
RVIS EVS: 0.44
RVIS percentile EVS: 77.91

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0258