ITPRIPL2

Summary

ITPRIPL2 (ITPRIP like 2, HGNC:27257) is a protein-coding gene on chromosome 16p12.3, encoding Inositol 1,4,5-trisphosphate receptor-interacting protein-like 2 (Q3MIP1).

Predicted to be located in membrane.

Source: NCBI Gene 162073 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 77 total
• MANE Select transcript: NM_001034841

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:27257
Approved symbol	ITPRIPL2
Name	ITPRIP like 2
Location	16p12.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ22994, MGC126798, MGC126800, LOC162073, D1C
Ensembl gene	ENSG00000205730
Ensembl biotype	protein_coding
Entrez	162073

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 1 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000381440, ENST00000566735

RefSeq mRNA: 1 — MANE Select: NM_001034841 NM_001034841

CCDS: CCDS32395

Canonical transcript exons

ENST00000381440 — 1 exons

Exon	Start	End
ENSE00001488612	19113964	19121629

Expression profiles

Bgee: expression breadth ubiquitous, 252 present calls, max score 99.14.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.3787 / max 137.0440, expressed in 1687 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
152988	11.6579	1678
152987	0.7208	521

Top tissues by expression

255 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
tendon of biceps brachii	UBERON:0008188	99.14	gold quality
visceral pleura	UBERON:0002401	99.07	gold quality
esophagus squamous epithelium	UBERON:0006920	98.73	gold quality
parietal pleura	UBERON:0002400	98.49	gold quality
tibia	UBERON:0000979	98.46	gold quality
upper arm skin	UBERON:0004263	98.34	gold quality
epithelial cell of pancreas	CL:0000083	98.25	gold quality
layer of synovial tissue	UBERON:0007616	98.19	gold quality
germinal epithelium of ovary	UBERON:0001304	97.97	gold quality
saphenous vein	UBERON:0007318	97.89	gold quality
synovial joint	UBERON:0002217	97.38	gold quality
palpebral conjunctiva	UBERON:0001812	97.22	gold quality
urethra	UBERON:0000057	97.04	gold quality
buccal mucosa cell	CL:0002336	96.96	gold quality
pericardium	UBERON:0002407	96.80	gold quality
gingival epithelium	UBERON:0001949	96.74	gold quality
nipple	UBERON:0002030	96.72	gold quality
nasal cavity epithelium	UBERON:0005384	96.54	gold quality
skin of hip	UBERON:0001554	96.43	gold quality
gingiva	UBERON:0001828	96.31	gold quality
epithelium of mammary gland	UBERON:0003244	96.03	gold quality
mammary duct	UBERON:0001765	96.01	gold quality
pylorus	UBERON:0001166	95.78	gold quality
upper leg skin	UBERON:0004262	95.75	gold quality
cardiac muscle of right atrium	UBERON:0003379	95.70	gold quality
lower lobe of lung	UBERON:0008949	95.49	gold quality
trachea	UBERON:0003126	95.35	gold quality
mucosa of paranasal sinus	UBERON:0005030	95.20	gold quality
ileal mucosa	UBERON:0000331	95.11	gold quality
cauda epididymis	UBERON:0004360	95.11	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-GEOD-83139	yes	7.74
E-ANND-3	yes	5.88

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

255 targeting ITPRIPL2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4455	100.00	65.48	1587
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-3925-3P	100.00	69.95	1237
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-196A-5P	100.00	68.16	684
HSA-MIR-196B-5P	100.00	68.16	681
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-6888-3P	99.97	65.95	1170
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-302E	99.96	70.74	2669

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Itpripl2	ENSMUSG00000095115
rattus_norvegicus	Itpripl2	ENSRNOG00000069633

Paralogs (9): ITPRIP (ENSG00000148841), CGAS (ENSG00000164430), MAB21L4 (ENSG00000172478), MAB21L3 (ENSG00000173212), MB21D2 (ENSG00000180611), MAB21L1 (ENSG00000180660), TMEM102 (ENSG00000181284), MAB21L2 (ENSG00000181541), ITPRIPL1 (ENSG00000198885)

Protein

Protein identifiers

Inositol 1,4,5-trisphosphate receptor-interacting protein-like 2 — Q3MIP1 (reviewed: Q3MIP1)

All UniProt accessions (1): Q3MIP1

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

Similarity. Belongs to the ITPRIP family.

RefSeq proteins (1): NP_001030013* (*=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 (8 total): topological domain 2, sequence variant 2, signal peptide 1, chain 1, transmembrane region 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q3MIP1-F1	79.78	0.46

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): 139

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 191 (showing top): PICCALUGA_ANGIOIMMUNOBLASTIC_LYMPHOMA_UP, JAATINEN_HEMATOPOIETIC_STEM_CELL_UP, ZHAN_MULTIPLE_MYELOMA_CD1_VS_CD2_UP, chr16p12, GINESTIER_BREAST_CANCER_20Q13_AMPLIFICATION_UP, MEISSNER_NPC_HCP_WITH_H3_UNMETHYLATED, MEISSNER_BRAIN_HCP_WITH_H3K4ME3_AND_H3K27ME3, CHICAS_RB1_TARGETS_SENESCENT, LINSLEY_MIR16_TARGETS, KATSANOU_ELAVL1_TARGETS_UP, PEDERSEN_METASTASIS_BY_ERBB2_ISOFORM_4, FORTSCHEGGER_PHF8_TARGETS_DN, CSR_EARLY_UP.V1_UP, GSE5503_MLN_DC_VS_SPLEEN_DC_ACTIVATED_ALLOGENIC_TCELL_UP, E2F2_TARGET_GENES

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (1): membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	1

Protein interactions and networks

STRING

652 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ITPRIPL2	MB21D2	Q8IYB1	462
ITPRIPL2	SLC75A1	Q14728	450
ITPRIPL2	FAM227A	F5H4B4	447
ITPRIPL2	TMX4	Q9H1E5	425
ITPRIPL2	TTC24	A2A3L6	403
ITPRIPL2	EPM2AIP1	Q7L775	396
ITPRIPL2	TMEM167A	Q8TBQ9	392
ITPRIPL2	TENT4B	Q8NDF8	381
ITPRIPL2	TENT5D	Q8NEK8	378
ITPRIPL2	MAB21L4	Q08AI8	375
ITPRIPL2	PPP1R16A	Q96I34	374
ITPRIPL2	SCRN3	Q0VDG4	370
ITPRIPL2	ZNF658	Q5TYW1	368
ITPRIPL2	MAB21L3	Q8N8X9	365
ITPRIPL2	DHRS13	Q6UX07	359

IntAct

32 interactions, top by confidence:

A	B	Type	Score
VWCE	HSPA5	psi-mi:“MI:0914”(association)	0.640
CHRNA4	FZD6	psi-mi:“MI:0914”(association)	0.530
KCNA2	FADS1	psi-mi:“MI:0914”(association)	0.530
LDLRAD1	ADAM10	psi-mi:“MI:0914”(association)	0.530
PCDHAC2	TMEM223	psi-mi:“MI:0914”(association)	0.530
SLC30A2	ESYT2	psi-mi:“MI:0914”(association)	0.530
Magoh	TRAPPC13	psi-mi:“MI:0914”(association)	0.350
Iqgap3	SRGAP3	psi-mi:“MI:0914”(association)	0.350
Ccn1	SRGAP3	psi-mi:“MI:0914”(association)	0.350
MYH6	BDP1	psi-mi:“MI:0914”(association)	0.350
	TMEM223	psi-mi:“MI:0914”(association)	0.350
Npc1	ESYT2	psi-mi:“MI:0914”(association)	0.350
TTYH1	TMEM223	psi-mi:“MI:0914”(association)	0.350
CHRNA4	TMEM223	psi-mi:“MI:0914”(association)	0.350
SLC4A8	ABCC4	psi-mi:“MI:0914”(association)	0.350
GP9	ESYT2	psi-mi:“MI:0914”(association)	0.350
CHRNA1	ESYT2	psi-mi:“MI:0914”(association)	0.350
PIGH	ILVBL	psi-mi:“MI:0914”(association)	0.350
TTMP	NBAS	psi-mi:“MI:0914”(association)	0.350
TMEM9B	NBAS	psi-mi:“MI:0914”(association)	0.350
AQP3	UBXN8	psi-mi:“MI:0914”(association)	0.350
ZDHHC12	FAAH	psi-mi:“MI:0914”(association)	0.350
CHRNB1	CLGN	psi-mi:“MI:0914”(association)	0.350
GNB1	MYO9A	psi-mi:“MI:0914”(association)	0.350
POPDC2	FZD6	psi-mi:“MI:0914”(association)	0.350
SCN3B	NBAS	psi-mi:“MI:0914”(association)	0.350
SLC1A3	DDX11L8	psi-mi:“MI:0914”(association)	0.350
SLC30A7	ESYT2	psi-mi:“MI:0914”(association)	0.350
SLC39A12	ESYT2	psi-mi:“MI:0914”(association)	0.350

BioGRID (23): ITPRIPL2 (Affinity Capture-MS), ITPRIPL2 (Affinity Capture-MS), ITPRIPL2 (Affinity Capture-MS), ITPRIPL2 (Affinity Capture-MS), ITPRIPL2 (Affinity Capture-MS), ITPRIPL2 (Affinity Capture-MS), ITPRIPL2 (Affinity Capture-MS), ITPRIPL2 (Affinity Capture-MS), ITPRIPL2 (Affinity Capture-MS), ITPRIPL2 (Affinity Capture-MS), ITPRIPL2 (Affinity Capture-MS), ITPRIPL2 (Affinity Capture-MS), ITPRIPL2 (Affinity Capture-MS), ITPRIPL2 (Affinity Capture-MS), ITPRIPL2 (Affinity Capture-MS)

ESM2 similar proteins: A1L515, A4D2P6, A6QQD2, A8VU90, E1BDF2, O75808, O88995, P0CG25, P22083, Q0IIA6, Q2TA57, Q3B7L1, Q3MIP1, Q3U5Q7, Q3UR50, Q3UR97, Q3UV16, Q400G9, Q5BKX5, Q5EBM0, Q5GH72, Q5SZI1, Q5TM19, Q5U4P2, Q62994, Q659K9, Q6PRD1, Q7Z736, Q861W0, Q86UR1, Q8BNN1, Q8C0R7, Q8CG70, Q8IUW3, Q8IVL6, Q8N398, Q8NAG6, Q8NCW0, Q8R2H1, Q8VCE9

Diamond homologs: Q3MIP1, Q3UV16

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 45 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

GO biological processes:

GO term	Partners	Fold	FDR
regulation of membrane potential	5	31.2×	1e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	69
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

378 predictions. Top by Δscore:

Variant	Effect	Δscore
16:19114065:TCC:T	donor_gain	0.9600
16:19114111:G:GT	donor_gain	0.9500
16:19114123:GG:G	donor_gain	0.9300
16:19114124:GG:G	donor_gain	0.9300
16:19115881:G:T	donor_gain	0.9100
16:19121437:A:G	donor_gain	0.8700
16:19114080:C:A	donor_gain	0.8400
16:19121540:TTG:T	donor_gain	0.8400
16:19114073:ACAGG:A	donor_gain	0.8200
16:19115602:GCTC:G	donor_gain	0.8100
16:19114133:C:T	donor_gain	0.8000
16:19114046:G:GT	donor_gain	0.7800
16:19114069:A:AG	donor_gain	0.7800
16:19114070:G:GG	donor_gain	0.7800
16:19121373:A:AG	acceptor_gain	0.7800
16:19121374:G:GG	acceptor_gain	0.7800
16:19115305:G:GA	donor_gain	0.7700
16:19119238:GACT:G	donor_gain	0.7600
16:19114053:A:T	donor_gain	0.7500
16:19115536:C:G	donor_gain	0.7400
16:19114112:A:T	donor_gain	0.7300
16:19115304:T:TA	donor_gain	0.7200
16:19115551:G:GT	donor_gain	0.7200
16:19116409:A:T	donor_gain	0.7200
16:19117581:TCC:T	donor_gain	0.7200
16:19115754:A:T	donor_gain	0.7100
16:19114052:G:GT	donor_gain	0.7000
16:19121541:TGG:T	donor_gain	0.6900
16:19115552:A:T	donor_gain	0.6800
16:19115959:TGGCA:T	donor_gain	0.6500

AlphaMissense

3349 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:19114821:G:C	K120N	0.998
16:19114821:G:T	K120N	0.998
16:19115500:T:A	W347R	0.998
16:19115500:T:C	W347R	0.998
16:19114815:C:A	H118Q	0.997
16:19114815:C:G	H118Q	0.997
16:19115224:T:C	F255L	0.997
16:19115226:C:A	F255L	0.997
16:19115226:C:G	F255L	0.997
16:19114942:A:C	S161R	0.996
16:19114944:C:A	S161R	0.996
16:19114944:C:G	S161R	0.996
16:19114981:T:C	F174L	0.996
16:19114983:C:A	F174L	0.996
16:19114983:C:G	F174L	0.996
16:19115225:T:C	F255S	0.996
16:19115396:C:A	A312D	0.996
16:19114816:A:C	S119R	0.995
16:19114818:C:A	S119R	0.995
16:19114818:C:G	S119R	0.995
16:19114952:A:T	E164V	0.995
16:19115237:T:C	L259P	0.995
16:19115327:T:C	L289S	0.995
16:19115387:T:A	L309H	0.995
16:19115399:T:A	V313D	0.995
16:19114982:T:C	F174S	0.994
16:19115502:G:C	W347C	0.994
16:19115502:G:T	W347C	0.994
16:19115685:G:C	K408N	0.994
16:19115685:G:T	K408N	0.994

dbSNP variants (sampled 300 via entrez): RS1001106931 (16:19112311 G>A), RS1001245434 (16:19120213 C>G), RS1001349097 (16:19113590 A>G), RS1001413993 (16:19112026 CAACAAACA>C,CAACA,CAACAAACAAACA), RS1001842487 (16:19113947 A>G), RS1003332743 (16:19121254 A>G), RS1003814167 (16:19116619 A>T), RS1003842031 (16:19112016 A>G), RS1003851344 (16:19115128 G>A,T), RS1004592816 (16:19115323 A>C), RS1005045048 (16:19119362 T>G), RS1005082243 (16:19121205 T>C), RS1005527210 (16:19116838 C>G,T), RS1005813503 (16:19115897 A>G), RS1006055880 (16:19117866 G>A)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST007159_14	Corneal astigmatism	3.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:1002040	Corneal astigmatism

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases expression, increases expression, increases methylation, affects expression	5
trichostatin A	increases expression, affects cotreatment	2
Benzo(a)pyrene	affects methylation, increases expression	2
Phenylmercuric Acetate	increases expression, affects cotreatment	2
Smoke	decreases expression	2
Tobacco Smoke Pollution	decreases expression, increases expression	2
Tretinoin	increases expression	2
FR900359	decreases phosphorylation	1
alpha-pinene	affects cotreatment, decreases expression, increases abundance	1
bisphenol A	affects cotreatment, increases methylation	1
beta-lapachone	increases expression	1
arsenite	decreases reaction, affects binding	1
sodium arsenite	increases expression	1
butyraldehyde	decreases expression	1
methacrylaldehyde	affects cotreatment, decreases expression, increases abundance	1
2-palmitoylglycerol	increases expression	1
K 7174	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
belinostat	decreases expression	1
ICG 001	increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
bisphenol S	decreases expression, affects cotreatment	1
(+)-JQ1 compound	decreases expression	1
MT19c compound	decreases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	increases expression	1
Temozolomide	increases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Vorinostat	decreases expression	1
Leflunomide	increases expression	1
Acetaminophen	decreases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.