ENSG00000234438
Homo sapiens protein KBTBD13 btb poz domain ubiquitination difficulty climbing stairs muscle weakness kelch repeat type skp superfamily kelch-type beta propeller post-translational modification cytoplasm cytosol cul -ring ubiquitin ligase complex ubiquitin-protein transferase activity
Features Gene ID: ENSG00000234438 Biological name :KBTBD13 Synonyms : C9JR72 / / Possible biological names infered from orthology : Species: Homo sapiens Chr. number: 15 Strand: 1 Band: q22.31 Gene start: 65076816 Gene end: 65078192 Corresponding Affymetrix probe sets: Cross references: Ensembl peptide - ENSP00000388723390594
See in Manteia .
613727 NM_001101362 NP_001094832 C9JR72 ENSG00000234438 Related genetic diseases (OMIM): 609273 - Nemaline myopathy 6, autosomal dominant, 609273
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 cellular metabolic process primary metabolic process organic substance metabolic process nitrogen compound metabolic process cellular metabolic process primary metabolic process organic substance metabolic process nitrogen compound metabolic process cellular metabolic process primary metabolic process organic substance metabolic process nitrogen compound metabolic process cellular metabolic process primary metabolic process organic substance metabolic process nitrogen compound metabolic process cellular metabolic process primary metabolic process organic substance metabolic process nitrogen compound metabolic process cellular metabolic process primary metabolic process organic substance metabolic process nitrogen compound metabolic process cellular metabolic process primary metabolic process organic substance metabolic process nitrogen compound metabolic process cellular metabolic process primary metabolic process organic substance metabolic process nitrogen compound metabolic process cellular metabolic process primary metabolic process organic substance metabolic process nitrogen compound metabolic process cellular metabolic process primary metabolic process organic substance metabolic process nitrogen compound metabolic processnitrogen compound metabolic process cellular metabolic processcellular metabolic process primary metabolic processprimary metabolic process organic substance metabolic processorganic substance metabolic process catalytic activity, acting on a protein transferase activity protein binding catalytic activity, acting on a protein transferase activity protein binding catalytic activity, acting on a protein transferase activity protein binding catalytic activity, acting on a protein transferase activity protein binding catalytic activity, acting on a protein transferase activity protein binding catalytic activity, acting on a protein transferase activity protein binding catalytic activity, acting on a protein transferase activity protein binding catalytic activity, acting on a protein transferase activity protein binding catalytic activity, acting on a protein transferase activity protein binding catalytic activity, acting on a protein transferase activity protein binding catalytic activity, acting on a proteincatalytic activity, acting on a protein transferase activitytransferase activity protein bindingprotein binding cell protein-containing complex cell protein-containing complex cell protein-containing complex cell protein-containing complex cell protein-containing complex cell protein-containing complex cell protein-containing complex cell protein-containing complex cell protein-containing complex cell protein-containing complex cellcell protein-containing complexprotein-containing complex
Pathways (from Reactome )Phenotype (from MGI , Zfin or HPO ) Neurological abnormality Abnormality of musculature Pace of progression Abnormality of limbs Head and neck abnormality Neurological abnormality Abnormality of musculature Pace of progression Abnormality of limbs Head and neck abnormality Neurological abnormality Abnormality of musculature Pace of progression Abnormality of limbs Head and neck abnormality Neurological abnormality Abnormality of musculature Pace of progression Abnormality of limbs Head and neck abnormality Neurological abnormality Abnormality of musculature Pace of progression Abnormality of limbs Head and neck abnormality Neurological abnormality Abnormality of musculature Pace of progression Abnormality of limbs Head and neck abnormality Neurological abnormality Abnormality of musculature Pace of progression Abnormality of limbs Head and neck abnormality Neurological abnormality Abnormality of musculature Pace of progression Abnormality of limbs Head and neck abnormality Neurological abnormality Abnormality of musculature Pace of progression Abnormality of limbs Head and neck abnormality Neurological abnormality Abnormality of musculature Pace of progression Abnormality of limbs Head and neck abnormality Neurological abnormalityNeurological abnormality Abnormality of musculatureAbnormality of musculature Pace of progressionPace of progression Abnormality of limbsAbnormality of limbs Head and neck abnormalityHead and neck abnormality 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]
Show HP:0001288 Gait disturbance "The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease." [HPO:curators]
Show HP:0003198 Myopathy
Show HP:0003546 Exercise intolerance
Show HP:0003551 Difficulty climbing stairs
Show HP:0003552 Muscle stiffness
Show HP:0003677 Slow progression
Show HP:0003690 Limb muscle weakness "Weakness of the muscles of the arms and legs." [HPO:curators]
Show HP:0003722 Neck flexor weakness "Weakness of the muscles involved in neck flexion (sternocleidomastoid, longus capitus, longus colli, and scalenus anterior)." [HPO:curators]
Show HP:0003798 Nemaline bodies "Nemaline rods are abnormal bodies are abnormal that can occur in skeletal muscle fibers. THe rods can be observed on histological analysis of muscle biopsy tissue or upon electron microscopy, where they appear either as extensions of sarcomeric Z-lines, in random array without obvious attachment to Z-lines (often in areas devoid of sarcomeres) or in large clusters localized at the sarcolemma or intermyofibrillar spaces." [HPO:curators, pmid:11333380]
Show HP:0009046 Difficulty walking, running, climbing stairs
Show
Interacting proteins (from Reactome )No match
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