ENSG00000109927
Homo sapiens domain TECTA extracellular membrane zona pellucida inhibitor-like protein autosomal inheritance egf-like vwfc von willebrand factor type d trypsin cysteine rich nido uncharacterised cysteine-rich conserved site tila alpha-tectorin serine protease superfamily c-terminal
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 ) nitrogen compound metabolic process biosynthetic process cellular metabolic process primary metabolic process organic substance metabolic process cell adhesion system process nitrogen compound metabolic process biosynthetic process cellular metabolic process primary metabolic process organic substance metabolic process cell adhesion system process nitrogen compound metabolic process biosynthetic process cellular metabolic process primary metabolic process organic substance metabolic process cell adhesion system process nitrogen compound metabolic process biosynthetic process cellular metabolic process primary metabolic process organic substance metabolic process cell adhesion system process nitrogen compound metabolic process biosynthetic process cellular metabolic process primary metabolic process organic substance metabolic process cell adhesion system process nitrogen compound metabolic process biosynthetic process cellular metabolic process primary metabolic process organic substance metabolic process cell adhesion system process nitrogen compound metabolic process biosynthetic process cellular metabolic process primary metabolic process organic substance metabolic process cell adhesion system process nitrogen compound metabolic process biosynthetic process cellular metabolic process primary metabolic process organic substance metabolic process cell adhesion system process nitrogen compound metabolic process biosynthetic process cellular metabolic process primary metabolic process organic substance metabolic process cell adhesion system process nitrogen compound metabolic process biosynthetic process cellular metabolic process primary metabolic process organic substance metabolic process cell adhesion system process nitrogen compound menitrogen compound metabolic process biosynthetic processbiosynthetic process cellular metabolic pcellular metabolic process primary metabolic prprimary metabolic process organic substance meorganic substance metabolic process cell adhesioncell adhesion system processsystem process extracellular matrix structural constituent protein binding extracellular matrix structural constituent protein binding extracellular matrix structural constituent protein binding extracellular matrix structural constituent protein binding extracellular matrix structural constituent protein binding extracellular matrix structural constituent protein binding extracellular matrix structural constituent protein binding extracellular matrix structural constituent protein binding extracellular matrix structural constituent protein binding extracellular matrix structural constituent protein binding extracellular matrix structural constituentextracellular matrix structural constituent protein bindingprotein binding extracellular region cell membrane organelle extracellular region cell membrane organelle extracellular region cell membrane organelle extracellular region cell membrane organelle extracellular region cell membrane organelle extracellular region cell membrane organelle extracellular region cell membrane organelle extracellular region cell membrane organelle extracellular region cell membrane organelle extracellular region cell membrane organelle extracellular regionextracellular region cellcell membranemembrane organelleorganelle
Pathways (from Reactome )
Phenotype (from MGI , Zfin or HPO ) Autosomal recessive inheritance Abnormality of the ears Autosomal recessive inheritance Abnormality of the ears Autosomal recessive inheritance Abnormality of the ears Autosomal recessive inheritance Abnormality of the ears Autosomal recessive inheritance Abnormality of the ears Autosomal recessive inheritance Abnormality of the ears Autosomal recessive inheritance Abnormality of the ears Autosomal recessive inheritance Abnormality of the ears Autosomal recessive inheritance Abnormality of the ears Autosomal recessive inheritance Abnormality of the ears Autosomal recessive inheritanceAutosomal recessive inheritance Abnormality of the earsAbnormality of the ears 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
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