ENSG00000176058
Homo sapiens | |
Features
| Gene ID: | ENSG00000176058 | | | | | Biological name : | TPRN | | | | | Synonyms : | Q4KMQ1 / taperin / TPRN | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 9 | | Strand: | -1 | | Band: | q34.3 | | Gene start: | 137191617 | | Gene end: | 137204193 | | | | | Corresponding Affymetrix probe sets: | 225891_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000327617
Ensembl peptide - ENSP00000387100
NCBI entrez gene - 286262
See in Manteia.
OMIM - 613354
RefSeq - NM_001128228
RefSeq Peptide - NP_001121700
swissprot - Q4KMQ1
swissprot - H3BLU1
Ensembl - ENSG00000176058
| | | | | Related genetic diseases (OMIM): | 613307 - Deafness, autosomal recessive 79, 613307 |
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)
| Q6NYC8 / PPP1R18 / protein phosphatase 1 regulatory subunit 18 | ENSG00000146112 | 18 |
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] |
Show
| | HP:0000407 | Hearing loss, sensorineural | "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators] |
Show
| | HP:0000408 | Hearing loss, sensorineural, progressive | |
Show
| | HP:0000750 | Impaired language development | |
Show
|
Interacting proteins (from Reactome)
No match
0 s.
|
