ENSG00000123104
Homo sapiens | |
Features
| Gene ID: | ENSG00000123104 | | | | | Biological name : | ITPR2 | | | | | Synonyms : | inositol 1,4,5-trisphosphate receptor type 2 / ITPR2 / Q14571 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 12 | | Strand: | -1 | | Band: | p11.23 | | Gene start: | 26336515 | | Gene end: | 26833198 | | | | | Corresponding Affymetrix probe sets: | 202660_at (Human Genome U133 Plus 2.0 Array) 202662_s_at (Human Genome U133 Plus 2.0 Array) 211360_s_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000242737
Ensembl peptide - ENSP00000370744
Ensembl peptide - ENSP00000408287
Ensembl peptide - ENSP00000440548
NCBI entrez gene - 3709
See in Manteia.
OMIM - 600144
RefSeq - XM_017019269
RefSeq - NM_002223
RefSeq - XM_017019266
RefSeq - XM_017019267
RefSeq - XM_017019268
RefSeq Peptide - NP_002214
swissprot - H7C2X9
swissprot - F5GYT5
swissprot - Q14571
Ensembl - ENSG00000123104
| | | | | Related genetic diseases (OMIM): | 106190 - ?Anhidrosis, isolated, with normal sweat glands, 106190 |
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed
Ortholog prediction (from Ensembl)
Paralog prediction (from Ensembl)
Protein motifs (from Interpro)
Gene Ontology (GO)
Pathways (from Reactome)
Phenotype (from MGI, Zfin or HPO)
| HP:0000007 | Autosomal recessive inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| | HP:0000970 | Anhidrosis | "Inability to sweat." [HPO:curators] |
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| | HP:0002046 | Intolerance to heat and fever | |
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| | HP:0007459 | Generalized anhidrosis | |
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Interacting proteins (from Reactome)
| ENSG00000123104 | ITPR2 / Q14571 / inositol 1,4,5-trisphosphate receptor type 2 | / complex | | ENSG00000167323 | STIM1 / Q13586 / stromal interaction molecule 1 | / reaction | | ENSG00000168710 | AHCYL1 / O43865 / adenosylhomocysteinase like 1 | / complex / reaction | | ENSG00000096433 | ITPR3 / Q14573 / inositol 1,4,5-trisphosphate receptor type 3 | / complex | | ENSG00000150995 | ITPR1 / Q14643 / inositol 1,4,5-trisphosphate receptor type 1 | / complex |
1 s.
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