ENSG00000113555
Homo sapiens | |
Features
| Gene ID: | ENSG00000113555 | | | | | Biological name : | PCDH12 | | | | | Synonyms : | PCDH12 / protocadherin 12 / Q9NPG4 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 5 | | Strand: | -1 | | Band: | q31.3 | | Gene start: | 141943585 | | Gene end: | 141969741 | | | | | Corresponding Affymetrix probe sets: | 219656_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000231484
Ensembl peptide - ENSP00000429094
NCBI entrez gene - 51294
See in Manteia.
OMIM - 605622
RefSeq - NM_016580
RefSeq Peptide - NP_057664
swissprot - E5RJD4
swissprot - Q9NPG4
Ensembl - ENSG00000113555
| | | | | Related genetic diseases (OMIM): | 251280 - Microcephaly, seizures, spasticity, and brain calcification, 251280 |
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)
| PCDH18 / Q9HCL0 / protocadherin 18 | ENSG00000189184 | 34 | | O14917 / PCDH17 / protocadherin 17 | ENSG00000118946 | 29 | | PCDH19 / Q8TAB3 / protocadherin 19 | ENSG00000165194 | 28 | | PCDH10 / Q9P2E7 / protocadherin 10 | ENSG00000138650 | 27 | | PCDH8 / O95206 / protocadherin 8 | ENSG00000136099 | 25 | | O60330 / PCDHGA12 / protocadherin gamma subfamily A, 12 | ENSG00000253159 | 24 | | Q9Y5G5 / PCDHGA8 / protocadherin gamma subfamily A, 8 | ENSG00000253767 | 23 | | Q9Y5H2 / PCDHGA11 / protocadherin gamma subfamily A, 11 | ENSG00000253873 | 23 | | Q9Y5G6 / PCDHGA7 / protocadherin gamma subfamily A, 7 | ENSG00000253537 | 23 | | Q9Y5H1 / PCDHGA2 / protocadherin gamma subfamily A, 2 | ENSG00000081853 | 23 | | Q9Y5H3 / PCDHGA10 / protocadherin gamma subfamily A, 10 | ENSG00000253846 | 23 | | Q9Y5H0 / PCDHGA3 / protocadherin gamma subfamily A, 3 | ENSG00000254245 | 23 | | Q9Y5G8 / PCDHGA5 / protocadherin gamma subfamily A, 5 | ENSG00000253485 | 23 | | Q9Y5G7 / PCDHGA6 / protocadherin gamma subfamily A, 6 | ENSG00000253731 | 23 | | Q9Y5G9 / PCDHGA4 / protocadherin gamma subfamily A, 4 | ENSG00000262576 | 22 | | Q9Y5E8 / PCDHB15 / protocadherin beta 15 | ENSG00000113248 | 21 |
Protein motifs (from Interpro)
Gene Ontology (GO)
Pathways (from Reactome)
No match
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:0000252 | Microcephaly | "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators] |
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| | HP:0001263 | Developmental retardation | "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators] |
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| | HP:0002123 | Myoclonic seizures | "Myoclonic seizures are sudden, brief losses of consciousness and postural tone not associated with tonic muscular contractions. Myoclonic seizures may involve one body part or the entire body. In the latter case, the myoclonic seizure is accompanied by a violent fall but not by loss of consciousness." [HPO:curators] |
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| | HP:0002510 | Spastic tetraplegia | "Spastic paralysis affecting all four limbs." [HPO:curators] |
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| | HP:0003593 | Early onset | |
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| | HP:0005484 | Microcephaly, postnatal | |
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Interacting proteins (from Reactome)
No match
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