ITPRIP

Summary

ITPRIP (inositol 1,4,5-trisphosphate receptor interacting protein, HGNC:29370) is a protein-coding gene on chromosome 10q25.1, encoding Inositol 1,4,5-trisphosphate receptor-interacting protein (Q8IWB1). Enhances Ca(2+)-mediated inhibition of inositol 1,4,5-triphosphate receptor (ITPR) Ca(2+) release.

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.

Source: NCBI Gene 85450 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 112 total
• GTEx eGene: eQTL in 15 tissues, sQTL in 3 (q < 0.05)
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 1.14 (unconstrained)
• MANE Select transcript: NM_001272013
• Notable: 112 clinical variants but no curated precision-oncology (CIViC) evidence yet

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29370
Approved symbol	ITPRIP
Name	inositol 1,4,5-trisphosphate receptor interacting protein
Location	10q25.1
Locus type	gene with protein product
Status	Approved
Aliases	bA127L20.2, DANGER, D1A
Ensembl gene	ENSG00000148841
Ensembl biotype	protein_coding
OMIM	620205
Entrez	85450

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 14 protein_coding, 1 nonsense_mediated_decay

MANE Select: ENST00000337478

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 3, TSL 2: 1

ENST00000337478, ENST00000278071, ENST00000358187, ENST00000458723, ENST00000647721, ENST00000877295, ENST00000877296, ENST00000877297, ENST00000877298, ENST00000877299, ENST00000913746, ENST00000941388, ENST00000941389, ENST00001011633, ENST00001137751

RefSeq mRNA: 3 — MANE Select: NM_001272013 NM_001272012, NM_001272013, NM_033397

CCDS: CCDS7557

Canonical transcript exons

ENST00000337478 — 2 exons

Exon	Start	End
ENSE00001644973	104338246	104338465
ENSE00001690662	104309700	104316064

Expression profiles

Bgee: expression breadth ubiquitous, 180 present calls, max score 94.06.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 22.2154 / max 1162.7840, expressed in 1783 samples.

Highest expression (Bgee): stromal cell of endometrium, lower esophagus mucosa, skin of leg, skin of abdomen, atrium auricular region.

Genetic regulation across tissues (GTEx eQTL / sQTL)

ITPRIP is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 15 tissues and its splicing (sQTL) in 3 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

18 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Nerve Tibial	eqtl	1.1e-64	+0.51	10:104331337:G:A
Colon Sigmoid	eqtl	6.3e-08	+0.20	10:104331337:G:A
Artery Tibial	eqtl	1.8e-07	+0.17	10:104272455:T:C
Colon Transverse	eqtl	8.9e-06	+0.12	10:104344682:G:A
Brain Cortex	eqtl	8.0e-05	+0.21	10:104324598:C:A
Heart Left Ventricle	sqtl	1.0e-04	-0.46	10:104329624:T:G
Muscle Skeletal	eqtl	6.9e-04	+0.14	10:104329527:A:C
Brain Frontal Cortex BA9	eqtl	1.4e-03	+0.17	10:104338176:A:G
Cells EBV-transformed lymphocytes	eqtl	1.6e-03	-0.19	10:104321944:A:G
Testis	eqtl	4.8e-03	+0.19	10:104324598:C:A
Brain Caudate basal ganglia	eqtl	5.0e-03	+0.15	10:104336587:TCCAACCAAGTGATC:T
Brain Anterior cingulate cortex BA24	eqtl	7.0e-03	+0.18	10:104329527:A:C
Brain Amygdala	eqtl	1.3e-02	+0.22	10:104336587:TCCAACCAAGTGATC:T
Skin Not Sun Exposed Suprapubic	eqtl	1.3e-02	-0.13	10:104325081:G:A
Vagina	sqtl	1.4e-02	-2.22	10:104868495:C:T
Heart Atrial Appendage	sqtl	1.5e-02	-0.35	10:104329624:T:G
Artery Aorta	eqtl	1.8e-02	+0.25	10:105003871:T:G
Brain Hypothalamus	eqtl	1.9e-02	+0.17	10:104329624:T:G

FANTOM5 promoters

5 alternative TSS:

Promoter ID	TPM avg	Samples expressed
111313	19.5624	1781
111312	1.6937	774
111314	0.7716	406
111311	0.1693	71
111307	0.0183	4

Top tissues by expression

showing 100 of 253 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
stromal cell of endometrium	CL:0002255	94.06	gold quality
lower esophagus mucosa	UBERON:0035834	93.64	gold quality
skin of leg	UBERON:0001511	93.23	gold quality
skin of abdomen	UBERON:0001416	93.13	gold quality
right atrium auricular region	UBERON:0006631	93.11	gold quality
bone marrow cell	CL:0002092	91.79	gold quality
cardiac atrium	UBERON:0002081	91.66	gold quality
right lung	UBERON:0002167	91.45	gold quality
popliteal artery	UBERON:0002250	91.38	gold quality
tibial artery	UBERON:0007610	91.38	gold quality
esophagus mucosa	UBERON:0002469	91.36	gold quality
upper lobe of left lung	UBERON:0008952	90.89	gold quality
mucosa of stomach	UBERON:0001199	90.62	gold quality
aorta	UBERON:0000947	90.10	gold quality
ectocervix	UBERON:0012249	90.02	gold quality
sural nerve	UBERON:0015488	89.84	gold quality
zone of skin	UBERON:0000014	89.42	gold quality
upper lobe of lung	UBERON:0008948	89.27	gold quality
omental fat pad	UBERON:0010414	89.26	gold quality
ascending aorta	UBERON:0001496	89.22	gold quality
peritoneum	UBERON:0002358	89.16	gold quality
blood	UBERON:0000178	89.04	gold quality
thoracic aorta	UBERON:0001515	88.80	gold quality
esophagus	UBERON:0001043	88.66	gold quality
heart left ventricle	UBERON:0002084	88.34	gold quality
embryo	UBERON:0000922	87.77	gold quality
ganglionic eminence	UBERON:0004023	87.77	gold quality
left coronary artery	UBERON:0001626	87.73	gold quality
leukocyte	CL:0000738	87.69	gold quality
adipose tissue of abdominal region	UBERON:0007808	87.69	gold quality
monocyte	CL:0000576	87.62	gold quality
cardiac ventricle	UBERON:0002082	87.41	gold quality
gall bladder	UBERON:0002110	87.40	gold quality
heart	UBERON:0000948	87.33	gold quality
apex of heart	UBERON:0002098	87.24	gold quality
left ovary	UBERON:0002119	87.09	gold quality
smooth muscle tissue	UBERON:0001135	86.71	gold quality
right ovary	UBERON:0002118	86.31	gold quality
granulocyte	CL:0000094	86.11	gold quality
lower esophagus	UBERON:0013473	85.92	gold quality
lower esophagus muscularis layer	UBERON:0035833	85.92	gold quality
vagina	UBERON:0000996	85.87	gold quality
coronary artery	UBERON:0001621	85.72	gold quality
left lobe of thyroid gland	UBERON:0001120	85.54	gold quality
tibial nerve	UBERON:0001323	85.45	gold quality
descending thoracic aorta	UBERON:0002345	85.42	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	85.28	gold quality
bone marrow	UBERON:0002371	84.95	gold quality
vermiform appendix	UBERON:0001154	84.79	gold quality
subcutaneous adipose tissue	UBERON:0002190	84.47	gold quality
endocervix	UBERON:0000458	84.30	gold quality
uterine cervix	UBERON:0000002	84.12	gold quality
right coronary artery	UBERON:0001625	84.12	gold quality
body of uterus	UBERON:0009853	84.10	gold quality
thyroid gland	UBERON:0002046	83.95	gold quality
left uterine tube	UBERON:0001303	83.64	gold quality
right lobe of thyroid gland	UBERON:0001119	83.61	gold quality
hindlimb stylopod muscle	UBERON:0004252	83.15	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	82.91	gold quality
lung	UBERON:0002048	82.66	gold quality
adenohypophysis	UBERON:0002196	82.65	gold quality
left adrenal gland cortex	UBERON:0035825	82.20	gold quality
left adrenal gland	UBERON:0001234	81.77	gold quality
metanephros cortex	UBERON:0010533	81.20	gold quality
muscle layer of sigmoid colon	UBERON:0035805	81.06	gold quality
body of stomach	UBERON:0001161	80.46	gold quality
ovary	UBERON:0000992	80.42	gold quality
adrenal gland	UBERON:0002369	80.21	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	80.09	gold quality
right adrenal gland	UBERON:0001233	79.88	gold quality
adrenal cortex	UBERON:0001235	79.72	gold quality
minor salivary gland	UBERON:0001830	79.70	gold quality
gastrocnemius	UBERON:0001388	79.48	gold quality
islet of Langerhans	UBERON:0000006	79.30	gold quality
spleen	UBERON:0002106	79.06	gold quality
adipose tissue	UBERON:0001013	78.99	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	78.98	gold quality
right adrenal gland cortex	UBERON:0035827	78.90	gold quality
colonic epithelium	UBERON:0000397	78.73	gold quality
lymph node	UBERON:0000029	78.66	gold quality
cardiac muscle of right atrium	UBERON:0003379	78.63	gold quality
muscle of leg	UBERON:0001383	78.61	gold quality
mouth mucosa	UBERON:0003729	78.35	gold quality
ventricular zone	UBERON:0003053	78.23	gold quality
pituitary gland	UBERON:0000007	78.17	gold quality
caecum	UBERON:0001153	78.13	gold quality
stomach	UBERON:0000945	78.01	gold quality
left ventricle myocardium	UBERON:0006566	77.92	gold quality
upper leg skin	UBERON:0004262	77.44	gold quality
anatomical system	UBERON:0000467	76.71	gold quality
multicellular organism	UBERON:0000468	76.30	gold quality
material anatomical entity	UBERON:0000465	76.27	gold quality
saliva-secreting gland	UBERON:0001044	76.26	gold quality
cortex of kidney	UBERON:0001225	76.09	gold quality
female reproductive system	UBERON:0000474	75.49	gold quality
gingival epithelium	UBERON:0001949	75.40	silver quality
myometrium	UBERON:0001296	75.14	gold quality
small intestine Peyer’s patch	UBERON:0003454	75.08	gold quality
right lobe of liver	UBERON:0001114	74.45	gold quality
transverse colon	UBERON:0001157	74.25	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-GEOD-135922	yes	21.32
E-ANND-3	yes	9.88

HPA expression

RNA tissue specificity: Tissue enhanced

showing 60 of 76 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM
Bone marrow	tissue	192.1
Vagina	tissue	41.5
Esophagus	tissue	34.9
Choroid plexus	tissue	26.9
Placenta	tissue	25.2
Heart muscle	tissue	24.3
Urinary bladder	tissue	22.1
Adipose tissue	tissue	19.8
Gallbladder	tissue	19.8
Smooth muscle	tissue	17.0
Appendix	tissue	15.9
Pituitary gland	tissue	15.7
Ovary	tissue	15.2
Thyroid gland	tissue	14.5
Lung	tissue	14.5
Skin 1	tissue	14.4
Cervix	tissue	14.3
Endometrium 1	tissue	14.3
Liver	tissue	12.4
Thymus	tissue	11.9
Adrenal gland	tissue	11.5
Tonsil	tissue	11.2
Spleen	tissue	10.4
Lymph node	tissue	9.7
Tongue	tissue	9.7
Prostate	tissue	9.1
Pancreas	tissue	8.9
Seminal vesicle	tissue	8.5
Fallopian tube	tissue	8.0
Parathyroid gland	tissue	7.6
Kidney	tissue	7.4
Testis	tissue	6.9
Breast	tissue	6.5
Salivary gland	tissue	6.1
Locus coeruleus	tissue	6.1
Hippocampus	tissue	6.1
Stomach 1	tissue	5.6
Superior colliculi	tissue	5.5
Cerebellum	tissue	5.4
Spinal cord	tissue	5.4
Nucleus accumbens	tissue	5.3
Rectum	tissue	4.7
Colon	tissue	4.1
Small intestine	tissue	4.1
Epididymis	tissue	3.5
Medulla oblongata	tissue	3.4
Skeletal muscle	tissue	3.3
Substantia nigra	tissue	3.3
Midbrain	tissue	3.2
Postcentral gyrus	tissue	3.1
Thalamus	tissue	2.9
Duodenum	tissue	2.9
Pons	tissue	2.7
Olfactory bulb	tissue	2.7
Cerebral cortex	tissue	2.6
Motor cortex	tissue	2.6
Corpus callosum	tissue	2.6
Hippocampal formation	tissue	2.6
Prefrontal cortex	tissue	2.5
Somatosensory cortex	tissue	2.5

Brain sub-regions (HPA Brain Atlas): detected in 189; highest nTPM — Blood vessel (40.7), Area parastriata, superior (17.9), Area postrema (12.2), Posterior thalamic nucleus (12.2), Anterior thalamic nucleus, ventral (11.0).

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): NR1I2

miRNA regulators (miRDB)

Targeting ITPRIP by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

showing 30 of 136 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-432-3P	100.00	67.86	705
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-4455	100.00	65.48	1587
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-4715-3P	99.98	66.03	670
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-2110	99.96	66.68	1930
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-515-5P	99.92	69.82	2343
HSA-MIR-519E-5P	99.92	69.62	2358
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-6783-3P	99.89	67.92	2059
HSA-MIR-1343-3P	99.89	66.78	1815
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-4271	99.88	68.32	2244
HSA-MIR-137-3P	99.87	74.74	2401
HSA-MIR-12119	99.87	68.35	1653
HSA-MIR-221-5P	99.86	65.45	1052
HSA-MIR-8073	99.86	65.21	1118
HSA-MIR-3663-3P	99.84	70.39	798
HSA-MIR-6079	99.84	68.54	1170
HSA-MIR-130B-5P	99.83	68.50	1888
HSA-MIR-4495	99.82	72.08	3080
HSA-MIR-6842-5P	99.80	67.54	1587
HSA-MIR-7110-5P	99.80	67.84	1712
HSA-MIR-6739-5P	99.80	67.87	2806

Functional genomics

gnomAD constraint: pLI 5.19e-10, LOEUF 1.14, missense Z 1.5 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000337478 — one region, missense o/e 0.89.

Literature-anchored findings (GeneRIF, showing 4)

• DANGER appears to allosterically modulate the sensitivity of IP(3) RtoCa(2+) inhibition, which likely alters IP(3)R-mediated Ca(2+) dynamics in cells where DANGER and IP(3)R are co-expressed (PMID:16990268)
• High DANGER expression is involved in high glucose-induced radioresistance through inhibiting DAPK-mediated anoikis in non-small cell lung cancer. (PMID:26769850)
• The suggested model of how long noncoding RNAs (lncI) TPRIP-1 orchestrates signal transduction for IFN production illustrates the essential role of lncRNAs in virus elimination. (PMID:29899107)
• ITPRIP promotes glioma progression by linking MYL9 to DAPK1 inhibition. (PMID:34111521)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	itprip	ENSDARG00000015576
danio_rerio	si:dkeyp-80c12.4	ENSDARG00000036479
mus_musculus	Itprip	ENSMUSG00000117975
rattus_norvegicus	Itprip	ENSRNOG00000046036
drosophila_melanogaster	CG7194	FBGN0035868
drosophila_melanogaster	cGlr2	FBGN0050424

Paralogs (9): CGAS (ENSG00000164430), MAB21L4 (ENSG00000172478), MAB21L3 (ENSG00000173212), MB21D2 (ENSG00000180611), MAB21L1 (ENSG00000180660), TMEM102 (ENSG00000181284), MAB21L2 (ENSG00000181541), ITPRIPL1 (ENSG00000198885), ITPRIPL2 (ENSG00000205730)

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:3042776) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 3 distinct phenotype terms.

Mouse phenotype (MP)	Records
abnormal cell physiology	1
increased cerebral infarct size	1
increased sensitivity to induced cell death	1

Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.

Organism	UniProt	Identity	Method
Bos taurus	A7MB64	87.0%	Diamond
Takifugu rubripes	Q90XY5	56.7%	Diamond

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

Symbol	Type	Entrez
ITPRIP-AS1	ncRNA	101927472
LINC02620	ncRNA	101927523
GSTO2	protein-coding	119391
CFAP58	protein-coding	159686
MIR609	ncRNA	693194
CFAP43	protein-coding	80217
GSTO1	protein-coding	9446
CFAP58-DT	ncRNA	100505869
MIR4482	ncRNA	100616323

Protein

Protein identifiers

Inositol 1,4,5-trisphosphate receptor-interacting protein — Q8IWB1 (reviewed: Q8IWB1)

Alternative names: Protein DANGER

All UniProt accessions (2): Q8IWB1, X6RK76

UniProt curated annotations — full annotation on UniProt →

Function. Enhances Ca(2+)-mediated inhibition of inositol 1,4,5-triphosphate receptor (ITPR) Ca(2+) release.

Subunit / interactions. Interacts with ITPR.

Subcellular location. Cell membrane. Nucleus outer membrane.

Tissue specificity. Detected in brain where it is concentrated in cerebellar Purkinje cells (at protein level).

Similarity. Belongs to the ITPRIP family.

RefSeq proteins (3): NP_001258941, NP_001258942, NP_203755 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR024810	MAB21L/cGLR	Family
IPR026250	ITPRIP-like	Family
IPR046906	Mab-21_HhH/H2TH-like	Domain

Pfam: PF20266

UniProt features (10 total): topological domain 2, glycosylation site 2, signal peptide 1, chain 1, transmembrane region 1, region of interest 1, coiled-coil region 1, modified residue 1

Structure

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IWB1-F1	79.67	0.44

Human Protein Atlas

Protein class: Predicted membrane proteins

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): vesicles

Antibody reliability (HPA): IF uncertain

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (1)

Type	Positions
Phosphoserine	547

Glycosylation sites (2)

Type	Positions
N-linked (glcnac…) asparagine	27, 80

Function

Pathways and Gene Ontology

Reactome pathways

0 curated (TAS) of 0; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

MSigDB gene sets: 200 (showing top): GOBP_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY, MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, BILD_HRAS_ONCOGENIC_SIGNATURE, GOBP_NEGATIVE_REGULATION_OF_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY, GOBP_REGULATION_OF_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY_VIA_DEATH_DOMAIN_RECEPTORS, RICKMAN_TUMOR_DIFFERENTIATED_WELL_VS_POORLY_DN, GOBP_APOPTOTIC_SIGNALING_PATHWAY, GOBP_REGULATION_OF_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY, GOBP_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY_VIA_DEATH_DOMAIN_RECEPTORS, TGACATY_UNKNOWN, GOBP_NEGATIVE_REGULATION_OF_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY_VIA_DEATH_DOMAIN_RECEPTORS, GOBP_NEGATIVE_REGULATION_OF_APOPTOTIC_SIGNALING_PATHWAY, SENESE_HDAC1_TARGETS_UP, CAGCCTC_MIR4855P, MILI_PSEUDOPODIA_CHEMOTAXIS_DN

GO Molecular Function (2): protein kinase inhibitor activity (GO:0004860), protein binding (GO:0005515)

GO Cellular Component (3): nuclear outer membrane (GO:0005640), plasma membrane (GO:0005886), membrane (GO:0016020)

GO top-level categories

10 GO namespaces:

Category	Terms
protein kinase activity	1
kinase inhibitor activity	1
protein kinase regulator activity	1
binding	1
nuclear membrane	1
organelle outer membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
membrane	1
cell periphery	1
cellular anatomical structure	1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 1 of 5 annotations. The rest are phylogenetic / computational / electronic (IEA).

1 experimentally-supported GO terms:

GO term	NS	Evidence
membrane	CC	high-throughput assay

Protein interactions and networks

STRING

showing 15 of 678 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ITPRIP	TMX4	Q9H1E5	534
ITPRIP	GARIN5B	Q8N5Q1	498
ITPRIP	XPO6	Q96QU8	480
ITPRIP	OR4K5	Q8NGD3	475
ITPRIP	SPDYC	Q5MJ68	468
ITPRIP	SMPD4	Q9NXE4	459
ITPRIP	MB21D2	Q8IYB1	449
ITPRIP	SLC75A1	Q14728	439
ITPRIP	MDP1	Q86V88	399
ITPRIP	VRK2	Q86Y07	380
ITPRIP	CNNM4	Q6P4Q7	375
ITPRIP	NOP2	P46087	370
ITPRIP	ANO6	Q4KMQ2	370
ITPRIP	CNNM2	Q9H8M5	365
ITPRIP	NCR3LG1	Q68D85	361

IntAct

Human interaction partners of ITPRIP in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

6 partners by confidence:

Partner	Interaction type	MIscore	Records
PGRMC2	physical association	0.670	3
RASSF3	physical association	0.560	3
SGTB	physical association	0.560	3
NLGN3	physical association	0.540	5
CACYBP	physical association	0.400	1
PPP5C	physical association	0.400	1

BioGRID (99 interactions; top human partners by supporting records): RASSF1 (Affinity Capture-MS; 4 records), CD1B (Affinity Capture-MS; 3 records), ASIC4 (Affinity Capture-MS; 2 records), HTR3A (Affinity Capture-MS; 2 records), HTR3C (Affinity Capture-MS; 2 records), MAS1 (Affinity Capture-MS; 2 records), NCEH1 (Affinity Capture-MS; 2 records), NLGN3 (Two-hybrid; 2 records), NRROS (Affinity Capture-MS; 2 records), PGRMC2 (Two-hybrid; 2 records), PLTP (Affinity Capture-MS; 2 records), PSMC5 (Affinity Capture-MS; 2 records), TCTN2 (Affinity Capture-MS; 2 records), ATG14 (Affinity Capture-MS), ATP1B4 (Affinity Capture-MS)

Disease & clinical

Genetic variants

Variant evidence for ITPRIP: 112 ClinVar records (0 pathogenic / likely pathogenic); 1 GWAS association.

ClinVar

112 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	103
Likely benign	7
Benign	0

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 19 predictions of 325):

Position(s)	Effect	Δscore	Sites
10:104316065–104316066	acceptor_loss	1.0000	6
10:104338244–104338245	donor_loss	0.9900	5
10:104338244	donor_loss	0.9700
10:104316073	acceptor_gain	0.9600
10:104338140	donor_gain	0.9600
10:104338241	donor_loss	0.9100
10:104338243	donor_loss	0.9000
10:104338148	donor_gain	0.8700
10:104338177	donor_gain	0.8200
10:104337840	donor_gain	0.7800

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.

4 prognostic cancer types:

Cancer	Prognostic	p-value
Kidney Renal Clear Cell Carcinoma (TCGA)	favorable	2.58e-05
Rectum Adenocarcinoma (validation)	favorable	0.000176
Kidney Renal Clear Cell Carcinoma (validation)	favorable	0.000414
Stomach Adenocarcinoma (TCGA)	unfavorable	0.000584

Disease associations

OMIM: gene MIM:620205 | disease phenotypes:

GWAS associations

1 associations:

Study	Trait	p-value
GCST90002395_575	Mean platelet volume	6e-10

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

68 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases expression, affects expression, increases abundance, affects cotreatment, increases methylation	4
Valproic Acid	affects cotreatment, increases expression, decreases expression	4
Estradiol	increases expression, affects cotreatment	3
potassium chromate(VI)	affects cotreatment, increases expression, decreases expression	2
Air Pollutants	affects cotreatment, decreases expression, increases abundance, affects expression	2
Benzo(a)pyrene	affects methylation, increases expression, increases methylation	2
Ozone	affects cotreatment, decreases expression, increases abundance, affects expression	2
Cyclosporine	increases expression	2
Aflatoxin B1	increases expression, increases methylation	2
Asbestos, Crocidolite	affects expression	2
aristolochic acid I	increases expression	1
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
bisphenol F	affects cotreatment, decreases expression	1
ginger extract	affects cotreatment, affects expression, increases abundance	1
methylmercuric chloride	increases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, decreases expression, increases abundance	1
trichostatin A	increases expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
dodecyldimethylamine oxide	increases expression	1
beta-lapachone	increases expression	1
afimoxifene	increases expression, affects reaction	1
sulforaphane	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
sodium arsenite	affects cotreatment, decreases expression, increases abundance	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	1
didecyldimethylammonium	increases expression	1
methacrylaldehyde	affects cotreatment, decreases expression, increases abundance	1
epigallocatechin gallate	affects cotreatment, increases expression	1
di-n-butylphosphoric acid	affects expression	1

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.