ITPR2
inositol 1,4,5-trisphosphate receptor type 2 | CFAP48, IP3R2

The protein encoded by this gene belongs to the inositol 1,4,5-triphosphate receptor family, whose members are second messenger intracellular calcium release channels. These proteins mediate a rise in cytoplasmic calcium in response to receptor activated production of inositol triphosphate. Inositol triphosphate receptor-mediated signaling is involved in many processes including cell migration, cell division, smooth muscle contraction, and neuronal signaling. This protein is a type 2 receptor that consists of a cytoplasmic amino-terminus that binds inositol triphosphate, six membrane-spanning helices that contribute to the ion pore, and a short cytoplasmic carboxy-terminus. A mutation in this gene has been associated with anhidrosis, suggesting that intracellular calcium release mediated by this protein is required for eccrine sweat production. [provided by RefSeq, Apr 2015]

Member of: DE-9 DE-9.8 Developmental clusters: GC4
Biological processes 48 terms
calcium channel activity (GO:0005262)calcium ion binding (GO:0005509)calcium ion transmembrane transport (GO:0070588)calcium ion transmembrane transporter activity (GO:0015085)calcium ion transmembrane transporter activity (GO:0015085)calcium ion transport (GO:0006816)calcium-mediated signaling (GO:0019722)cell cortex (GO:0005938)cellular response to cAMP (GO:0071320)cytoplasm (GO:0005737)endoplasmic reticulum (GO:0005783)endoplasmic reticulum membrane (GO:0005789)endoplasmic reticulum membrane (GO:0005789)endoplasmic reticulum membrane (GO:0005789)endoplasmic reticulum membrane (GO:0005789)inositol 1,4,5 trisphosphate binding (GO:0070679)inositol 1,4,5 trisphosphate binding (GO:0070679)inositol 1,4,5-trisphosphate-gated calcium channel activity (GO:0005220)inositol 1,4,5-trisphosphate-gated calcium channel activity (GO:0005220)inositol 1,4,5-trisphosphate-gated calcium channel activity (GO:0005220)inositol 1,4,5-trisphosphate-gated calcium channel activity (GO:0005220)intracellularly gated calcium channel activity (GO:0015278)membrane (GO:0016020)membrane (GO:0016020)monoatomic ion channel activity (GO:0005216)monoatomic ion transport (GO:0006811)phosphatidylinositol binding (GO:0035091)phosphatidylinositol binding (GO:0035091)plasma membrane (GO:0005886)plasma membrane (GO:0005886)platelet dense tubular network membrane (GO:0031095)platelet dense tubular network membrane (GO:0031095)protein binding (GO:0005515)release of sequestered calcium ion into cytosol (GO:0051209)release of sequestered calcium ion into cytosol (GO:0051209)release of sequestered calcium ion into cytosol (GO:0051209)response to hypoxia (GO:0001666)response to hypoxia (GO:0001666)sarcoplasmic reticulum (GO:0016529)sarcoplasmic reticulum (GO:0016529)sarcoplasmic reticulum membrane (GO:0033017)scaffold protein binding (GO:0097110)secretory granule membrane (GO:0030667)signal transduction (GO:0007165)signaling receptor complex (GO:0043235)transmembrane transport (GO:0055085)transmembrane transporter binding (GO:0044325)transport vesicle membrane (GO:0030658)
Expression (TPM)
ITPR2 — as a Regulated Gene

TFs regulating ITPR2 0 TFs

Transcription factors with Perturb-seq knockdown data for ITPR2. The Binding column indicates whether any binding evidence exists for this TF–gene pair (ChIP-seq or motif footprint peaks). The Mean coef is the average Perturb-seq regression coefficient across active gRNAs (positive = ITPR2 upregulated upon KD; negative = downregulated). The Outlier column indicates whether this gene is in the top or bottom 5% of all TF knockdown effects.

Data: Effect:
TF Mean coef Binding Outlier TF→Gene link

Elements linked to ITPR2

Open chromatin peaks (ATAC-seq) in the genomic neighbourhood of ITPR2, linked by TSS proximity or chromatin conformation (Multiome / HiCAR). Each element overlaps at least one TF ChIP-seq binding site — the TFs column shows how many distinct TFs bind that element.

Accessibility Element Dist. to TSS Link type TFs
chr12:26,195,307–26,196,297 298.4 kb Distal (>10kb) Multiome 353
chr12:26,679,082–26,679,573 185.0 kb Distal (>10kb) Multiome 121
chr12:26,831,973–26,834,292 339.1 kb Distal (>10kb) Multiome 945
chr12:26,884,786–26,885,430 390.8 kb Distal (>10kb) Multiome 412
chr12:26,937,248–26,939,182 444.0 kb Distal (>10kb) Multiome 853
chr12:27,013,686–27,014,988 520.2 kb Distal (>10kb) Multiome 864
chr12:27,021,899–27,022,924 528.3 kb Distal (>10kb) Multiome 783

Genome Browser

Genomic view of the ITPR2 locus showing ATAC-seq accessibility and RNA-seq expression across the ESC → DE time course, together with TF binding peaks and element-to-TSS loop connections.

chr12:26,185,307 – 27,032,924
Proximal 1 kb Distal 10 kb Multiome HiCAR ATAC-seq RNA-seq