ITPRIP

protein-coding

inositol 1,4,5-trisphosphate receptor interacting protein

Gene summary

This gene encodes a membrane-associated protein that binds the inositol 1,4,5-trisphosphate receptor (ITPR). The encoded protein enhances the sensitivity of ITPR to intracellular calcium signaling. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]

Previous symbols:

KIAA1754

MANE transcript

NM_001272013.2

Inheritance

—

ClinVar variants

U:106B:7

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.99

Max pathogenic AF

—

Genomic locus

chr10:104,309,698-104,338,465

External References & Databases

Ensembl (ENSG00000148841)

Transcript & Mutation Effects

hg38 • Region Span ~28.8 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 ITPRIP variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 110

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001272013.2. 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		2
missense			105 clinvar	5 clinvar		110
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	106	7	0	113

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 30 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001272013.2	RefSeq	NP_001258942.1	1	MANE Select
ENST00000337478.3	Ensembl	ENSP00000337178.1	1	MANE Select
NM_001272012.2	RefSeq	NP_001258941.1	1	Standard
NM_033397.4	RefSeq	NP_203755.1	1	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

protein binding

Cellular Component

plasma membrane
membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000278071
Coding exons: 1
Length: 26269
Individuals with no LoFs: 125682
Homozygous LoFs: 1
Heterozygous LoFs: 65
Defined: 125748
p: 0.000262

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.563	332	362	0.917	0.0000242	3566
Missense (PolyPhen)		90	98.714	0.91173		1075
Synonymous	-0.979	185	169	1.10	0.0000121	1138
Loss of Function	0.0467	16	16.2	0.987	8.66e-7	159

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00031	0.00031	rare
Latino/Admixed American	0.00020	0.00020	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00016	0.00016	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00018	0.00018	rare
South Asian	0.0011	0.00098	notable
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Enhances Ca(2+)-mediated inhibition of inositol 1,4,5- triphosphate receptor (ITPR) Ca(2+) release. {ECO:0000269|PubMed:16990268}.;

Recessive Scores

pRec: 0.132

Intolerance Scores

LoFtool: 0.619
RVIS EVS: -0.55
RVIS percentile EVS: 19.86

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.496

Gene Damage Prediction

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