ENSG00000164099
Homo sapiens | |
Features
| Gene ID: | ENSG00000164099 | | | | | Biological name : | PRSS12 | | | | | Synonyms : | P56730 / PRSS12 / serine protease 12 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 4 | | Strand: | -1 | | Band: | q26 | | Gene start: | 118280038 | | Gene end: | 118353003 | | | | | Corresponding Affymetrix probe sets: | 205515_at (Human Genome U133 Plus 2.0 Array) 213802_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000296498
NCBI entrez gene - 8492
See in Manteia.
OMIM - 606709
RefSeq - NM_003619
RefSeq Peptide - NP_003610
swissprot - P56730
Ensembl - ENSG00000164099
| | | | | Related genetic diseases (OMIM): | 249500 - Mental retardation, autosomal recessive 1, 249500 |
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)
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:0000486 | Strabismus | "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators] |
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| | HP:0000639 | Nystagmus | "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators] |
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| | HP:0001249 | Mental retardation | |
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| | HP:0003487 | Babinski sign | "Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract." [HPO:curators] |
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| | HP:0006801 | Hyperactive deep tendon reflexes | |
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Interacting proteins (from Reactome)
No match
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