ENSG00000109927
Homo sapiens | |
Features
| Gene ID: | ENSG00000109927 | | | | | Biological name : | TECTA | | | | | Synonyms : | O75443 / TECTA / tectorin alpha | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 11 | | Strand: | 1 | | Band: | q23.3 | | Gene start: | 121101173 | | Gene end: | 121191493 | | | | | Corresponding Affymetrix probe sets: | 221296_at (Human Genome U133 Plus 2.0 Array) 236904_x_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000496274
Ensembl peptide - ENSP00000264037
Ensembl peptide - ENSP00000376543
Ensembl peptide - ENSP00000493855
NCBI entrez gene - 7007
See in Manteia.
OMIM - 602574
RefSeq - NM_005422
RefSeq Peptide - NP_005413
swissprot - O75443
Ensembl - ENSG00000109927
| | | | | Related genetic diseases (OMIM): | 601543 - Deafness, autosomal dominant 8/12, 601543 | | | 603629 - Deafness, autosomal recessive 21, 603629 |
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: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: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:0000407 | Hearing loss, sensorineural | "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators] |
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Interacting proteins (from Reactome)
No match
1 s.
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