KIAA0586 (GeneID: 9786) | Homo sapiens
Description: KIAA0586 [Source:HGNC Symbol;Acc:HGNC:19960]
Synonyms: JBTS23, Talpid3, SRTD14
Other ID(s): ENSG00000100578, HGNC:19960
Protein Accession Numbers: NP_001316875, ENST00000354386, NP_001231118, NP_001316872, ENST00000555397, NP_001231120, NP_001351629, ENST00000423743, NP_001316874, ENST00000261244, ENST00000556134, NP_001231122, NP_055564, ENST00000555203, NP_001316876, ENST00000354386.6, NP_001231119, NP_001316873, ENST00000555833, NP_001231121, NP_001351630, ENST00000554463
Statistics: ClinVar(276)
ClinVar Pathogenicity of Variations help

∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000261244 ENST00000354386 ENST00000423743 ENST00000554463 ENST00000555203 ENST00000555397 ENST00000555833 ENST00000556134 NP_001231118 NP_001231119 NP_001231120 You are here now! NP_001231121 NP_001231122 NP_001316872 NP_001316873 NP_001316874 NP_001316875 NP_001316876 NP_001351629 NP_001351630 You are here now! NP_055564


import_contactsClinVar Data
Variation ID filter_list Allele ID filter_list RS Number filter_list Variant Type filter_list Record filter_list Alteration filter_list Clinicial Sig. filter_list Last Update filter_list Phenotypes filter_list Cytogenetic filter_list Review Status filter_list RCV Acc.N. filter_list

healinggnomAD
Variant ID filter_list Transcript ID filter_list Alteration filter_list Annotation filter_list Allele C. filter_list Allele N. filter_list Allele F. filter_list rsNumber filter_list Flagsfilter_list Filter filter_list

placePost-translational Modifications (PTMs)
Gene Name filter_list ACC ID filter_list PTM Type filter_list Position filter_list Mod-rsd filter_list Site +/-7 Aa filter_list Mw_kd filter_list Site grpID filter_list

blur_onCatalogue of Somatic Mutations in Cancer (COSMIC)
Gene Name filter_list Transcript ID filter_list Sample name filter_list Primary Site filter_list Primary Histology filter_list Mutation ID filter_list Mutation CDS filter_list Mutation Aa filter_list Mutation Desc. filter_list FATHMM Prediction filter_list FATHMM Score filter_list Mutation Somatic Status filter_list PUBMED PMID filter_list Tumor Origin filter_list Position filter_list

chrome_reader_modedbSNP
Gene ID filter_list Transcript ID filter_list Consequence filter_list Position filter_list HGVSp filter_list Impact filter_list

format_align_centerProtein Domains (PFAM)
Pfam Domain filter_list Domain Name filter_list Description filter_list Positions filter_list Clan filter_list Clan Name filter_list Organism filter_list
NO RESULT FOUND
NO DOMAINS EXIST

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Hydrocephalus Nervous System Diseases ; 0.659 0.517
Majewski Syndrome Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.659 0.517
Saldino-Noonan Syndrome Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.659 0.517
Short Rib-Polydactyly Syndrome Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.659 0.517
Polydactyly Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.659 0.517
Craniofacial Abnormalities Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.659 0.517
Familial aplasia of the vermis Eye Diseases ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.659 0.517
Intellectual Disability Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ; 0.659 0.517
JOUBERT SYNDROME 23 N/A 0.659 0.517
Ciliopathies Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.659 0.517
Joubert syndrome with Jeune asphyxiating thoracic dystrophy N/A 0.659 0.517
NO RESULT FOUND
feedback