Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol KIAA1549 contributors: mct/npt - updated : 04-12-2020
HGNC name KIAA1549
HGNC id 22219
Corresponding disease
RP86 retinitis pigmentosa 86
Location 7q34      Physical location : 138.516.128 - 138.666.064
Synonym name hypothetical protein LOC57670
Synonym symbol(s) FLJ11731, FLJ38703, FLJ40644
DNA
TYPE functioning gene
STRUCTURE 88.44 kb     19 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
19 - 12379 - 1934 - 2018 30120214
- - 12427 - 1950 - 2018 30120214
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
Homologene
FAMILY
CATEGORY unknown/unspecified
SUBCELLULAR LOCALIZATION     plasma membrane
    intracellular
intracellular,cytoplasm,cytoskeleton,microtubule
basic FUNCTION unknown
CELLULAR PROCESS
PHYSIOLOGICAL PROCESS
PATHWAY
metabolism
signaling
a component
INTERACTION
DNA
RNA
small molecule
protein
cell & other
REGULATION
ASSOCIATED DISORDERS
corresponding disease(s) RP86
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral fusion      
Tandem duplication at 7q34 leading to a fusion between KIAA1549 and BRAF occurs in the majority of Pilocytic astrocytomas (Jones 2009)
tumoral fusion      
KIAA1549-BRAF fusion gene in cells forming microvascular proliferations in pilocytic astrocytoma
tumoral fusion      
fusions involving the BRAF and KIAA1549 genes are found in nearly 80p100 of cerebellar grade I astrocytomas but only 50–55p100 of non-cerebellar grade I cases
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS