ENSG00000152591
Homo sapiens | |
Features
| Gene ID: | ENSG00000152591 | | | | | Biological name : | DSPP | | | | | Synonyms : | dentin sialophosphoprotein / DSPP / Q9NZW4 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 4 | | Strand: | 1 | | Band: | q22.1 | | Gene start: | 87608529 | | Gene end: | 87616910 | | | | | Corresponding Affymetrix probe sets: | 221681_s_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000382213
Ensembl peptide - ENSP00000282478
NCBI entrez gene - 1834
See in Manteia.
OMIM - 125485
RefSeq - NM_014208
RefSeq Peptide - NP_055023
swissprot - Q9NZW4
Ensembl - ENSG00000152591
| | | | | Related genetic diseases (OMIM): | 125420 - Dentin dysplasia, type II, 125420 | | | 125490 - Dentinogenesis imperfecta, Shields type II, 125490 | | | 125500 - Dentinogenesis imperfecta, Shields type III, 125500 | | | 605594 - Deafness, autosomal dominant 39, with dentinogenesis, 605594 |
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)
No match
Protein motifs (from Interpro)
No match
Gene Ontology (GO)
Pathways (from Reactome)
Phenotype (from MGI, Zfin or HPO)
| HP:0000006 | Autosomal dominant 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
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| | HP:0000360 | Tinnitus | "Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation." [Cochrane:ab005233] |
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| | HP:0000694 | Shell teeth | |
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| | HP:0000700 | Periapical radiolucencies | |
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| | HP:0000703 | Dentinogenesis imperfecta | |
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| | HP:0003771 | Pulp stones | |
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| | HP:0005101 | High-frequency hearing loss | |
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| | HP:0008619 | Hearing loss, sensorineural, bilateral | |
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| | HP:0011060 | Dentinogenesis imperfecta limited to primary teeth | "`Developmental dysplasia` of `dentin` (FMA:55628) affecting only the `primary dentition` (FMA:55655)." [HPO:ibailleulforestier] |
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Interacting proteins (from Reactome)
| ENSG00000138448 | ITGAV / P06756 / integrin subunit alpha V | / complex / reaction | | ENSG00000150093 | ITGB1 / P05556 / integrin subunit beta 1 | / reaction / complex |
0 s.
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