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Gene

ITPR3

inositol 1,4,5-trisphosphate receptor type 3

Summary

Cytogenetic location
6p21.31
Coordinates
Chromosome 6: 33,621,322–33,696,562 (GRCh38)
Exons
58 exons across 75.2 kb
Protein
2,671 amino acids
Also known as
IP3R3
MANE Select transcript
ENST00000605930.3NM_002224.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

    • Charcot-Marie-Tooth Disease

      • One of 62 genes linked to it

        A group of inherited peripheral neuropathies causing progressive weakness and wasting of the distal muscles and loss of sensation, mainly in the feet and hands.

        • ClinGen rates the link definitive
        • 3 GenCC submitters rate it definitive or strong
        What knowing changes

        Genetic counseling, subtype-specific monitoring, physical therapy, orthotics, neurotoxic drug avoidance, gene-specific clinical trials, surveillance for associated features

    • Other Inborn Errors of Immunity

      • Immunodeficiency Disease

        One of 170 genes linked to it

        Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.

        • 1 GenCC submitter rates it definitive or strong
        What knowing changes

        HSCT for SCID and severe PIDs; immunoglobulin replacement (IVIG/SCIG) for antibody deficiencies; leniolisib (Joenja, FDA 2023) for APDS; gene therapy for ADA-SCID; abatacept for CTLA4/LRBA deficiency; prophylactic antibiotics; G-CSF for CGD

    How ITPR3 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 6, with a bracket where ITPR3 sits. ITPR3 and 27 genes near it on chromosome 6, from 33,158,942 to 34,158,941.Chromosome 66p21.31p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12q13q14.1q14.2q14.3q15q16.1q16.2q16.3q21q22.1q22.2q22.31q22.32q22.33q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q26q2733.2 Mb33.4 Mb33.6 Mb33.8 Mb34 MbCOL11A2: 33,162,681–33,192,802, reverse strandRXRB: 33,193,585–33,200,693, reverse strandRXRBSLC39A7: 33,200,305–33,204,439, forward strandSLC39A7HSD17B8: 33,204,631–33,206,831, forward strandHSD17B8RING1: 33,208,033–33,212,722, forward strandRING1VPS52: 33,250,272–33,272,047, reverse strandVPS52RPS18: 33,271,730–33,276,513, forward strandB3GALT4: 33,277,123–33,284,832, forward strandWDR46: 33,279,103–33,289,523, reverse strandPFDN6: 33,288,680–33,298,441, forward strandRGL2: 33,291,180–33,299,534, reverse strandTAPBP: 33,299,694–33,314,284, reverse strandZBTB22: 33,314,406–33,318,021, reverse strandZBTB22DAXX: 33,318,558–33,323,259, reverse strandDAXX: 33,321,386–33,329,286, reverse strandSMIM40: 33,323,628–33,329,279, reverse strandSMIM40KIFC1: 33,391,429–33,410,441, forward strandKIFC1PHF1: 33,410,360–33,416,453, forward strandPHF1CUTA: 33,416,442–33,418,381, reverse strandCUTASYNGAP1: 33,419,661–33,453,689, forward strandSYNGAP1ZBTB9: 33,453,970–33,457,544, forward strandZBTB9BAK1: 33,568,791–33,580,305, reverse strandBAK1ITPR3: 33,621,322–33,696,562, forward strandITPR3UQCC2: 33,690,635–33,711,748, reverse strandUQCC2IP6K3: 33,721,314–33,750,520, reverse strandIP6K3LEMD2: 33,771,202–33,789,173, reverse strandLEMD2MLN: 33,794,673–33,804,006, reverse strandMLNGRM4: 34,018,643–34,155,622, reverse strandGRM4Diagram of ITPR3: 58 exons on the forward strand of chromosome 6Exon 5: 1 known disease-causing siteExon 16: 1 known disease-causing siteExon 32: 1 known disease-causing siteExon 55: 1 known disease-causing siteExon 1: 33,621,322–33,621,691, 370 basesExon 2: 33,640,484–33,640,554, 71 basesExon 3: 33,655,766–33,655,887, 122 basesExon 4: 33,657,932–33,658,018, 87 basesExon 5: 33,658,670–33,658,828, 159 basesExon 6: 33,659,021–33,659,119, 99 basesExon 7: 33,659,466–33,659,549, 84 basesExon 8: 33,662,528–33,662,674, 147 basesExon 9: 33,662,911–33,663,006, 96 basesExon 10: 33,663,500–33,663,550, 51 basesExon 11: 33,663,738–33,663,880, 143 basesExon 12: 33,664,870–33,664,969, 100 basesExon 13: 33,665,053–33,665,213, 161 basesExon 14: 33,665,835–33,665,976, 142 basesExon 15: 33,667,129–33,667,290, 162 basesExon 16: 33,667,792–33,667,964, 173 basesExon 17: 33,668,515–33,668,634, 120 basesExon 18: 33,668,974–33,669,156, 183 basesExon 19: 33,670,325–33,670,576, 252 basesExon 20: 33,670,671–33,670,815, 145 basesExon 21: 33,671,165–33,671,306, 142 basesExon 22: 33,672,029–33,672,228, 200 basesExon 23: 33,673,591–33,673,720, 130 basesExon 24: 33,674,208–33,674,265, 58 basesExon 25: 33,675,691–33,675,856, 166 basesExon 26: 33,676,768–33,676,932, 165 basesExon 27: 33,677,015–33,677,089, 75 basesExon 28: 33,677,504–33,677,629, 126 basesExon 29: 33,678,421–33,678,543, 123 basesExon 30: 33,678,639–33,678,839, 201 basesExon 31: 33,679,882–33,680,133, 252 basesExon 32: 33,680,329–33,680,454, 126 basesExon 33: 33,680,555–33,680,680, 126 basesExon 34: 33,682,524–33,682,644, 121 basesExon 35: 33,683,207–33,683,397, 191 basesExon 36: 33,684,020–33,684,168, 149 basesExon 37: 33,684,357–33,684,465, 109 basesExon 38: 33,684,598–33,684,688, 91 basesExon 39: 33,684,774–33,684,943, 170 basesExon 40: 33,685,359–33,685,533, 175 basesExon 41: 33,685,643–33,685,827, 185 basesExon 42: 33,686,053–33,686,253, 201 basesExon 43: 33,686,409–33,686,519, 111 basesExon 44: 33,687,009–33,687,104, 96 basesExon 45: 33,687,226–33,687,327, 102 basesExon 46: 33,687,478–33,687,564, 87 basesExon 47: 33,688,057–33,688,167, 111 basesExon 48: 33,688,239–33,688,431, 193 basesExon 49: 33,688,656–33,688,781, 126 basesExon 50: 33,689,238–33,689,410, 173 basesExon 51: 33,690,034–33,690,198, 165 basesExon 52: 33,690,917–33,691,109, 193 basesExon 53: 33,691,615–33,691,719, 105 basesExon 54: 33,691,801–33,691,928, 128 basesExon 55: 33,692,728–33,692,893, 166 basesExon 56: 33,693,545–33,693,705, 161 basesExon 57: 33,694,924–33,695,085, 162 basesExon 58: 33,695,712–33,696,562, 851 bases1510152025303540455055585′3′

    Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

    Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

    Nearby genes from Ensembl release 116, on GRCh38.

    Exons make up 9.1 kb of the gene's 75.2 kb; 8,016 of those bases code for the protein.

    How a genome test reads ITPR3

    4

    positions in ITPR3 where ClinVar classes a change as pathogenic or likely pathogenic

    None of them falls in a region short reads find hard.

    A whole genome covers all 75.2 kb of ITPR3, introns included, not only the 9.1 kb of exons.

    Where this comes from

    • HGNC: the gene's symbol, name, other symbols and location.
    • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
    • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
    • The ACMG secondary findings list, SF v3.2.
    • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
    • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
    • Data release 2026.10.16-c6eea6bf.

    Cite this page

    APA

    Dante Labs. (n.d.). ITPR3 gene: inositol 1,4,5-trisphosphate receptor type 3. Retrieved 16 October 2026, from https://dantelabs.com/genes/itpr3

    Vancouver

    Dante Labs. ITPR3 gene: inositol 1,4,5-trisphosphate receptor type 3 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/itpr3

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