Hs00300564_cn

• Gene Symbol: ASTN2
• Assay Reference Genome Location: Chr.9:116698543 on build GRCh38
• Cytoband: 9q33.1

Target Gene Details

• Entrez Gene ID: 23245
• Gene Name: astrotactin 2
• Gene Aliases: bA67K19.1
• Location: Chr.9:116425225-117415039 on Build GRCh38
• Assay Gene Location: Within Intron 15

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ASTN2	NM_014010.4			NP_054729.3
	AB014534.1
	AF116574.1			AAF14357.1
	AK127350.1
	AK315025.1
	BC018759.2			AAH18759.2
	BC146756.1
	BX649176.1

Target Gene Details

• Entrez Gene ID: 22954
• Gene Name: tripartite motif containing 32
• Gene Aliases: BBS11, HT2A, LGMD2H, TATIP
• Location: Chr.9:116687302-116701300 on Build GRCh38
• Assay Gene Location: Within Exon 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TRIM32	NM_001099679.1	2	959	NP_001093149.1
	NM_012210.3	2	962	NP_036342.2
	XM_005251813.3	2	1008	XP_005251870.1
	XM_011518398.2	2	996	XP_011516700.1
	XM_017014486.1	3	1019	XP_016869975.1
	AK314264.1
	AX775779.1	2	931	CAE11589.1
	BC003154.1	2	931	AAH03154.1
	U18543.1	2	911	AAA86474.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv615255	Chr.9:116695698 - 116728293 on Build GRCh38	Loss	TRIM32 ASTN2
dgv7708n100	Chr.9:116663365 - 116741547 on Build GRCh38	Loss	TRIM32 ASTN2
nsv1047432	Chr.9:116633553 - 116739347 on Build GRCh38	Loss	TRIM32 ASTN2
nsv831702	Chr.9:116638034 - 116816486 on Build GRCh38	Gain	TRIM32 ASTN2
nsv1047284	Chr.9:116639065 - 116863135 on Build GRCh38	Loss	TRIM32 ASTN2
nsv1043149	Chr.9:116677781 - 116825537 on Build GRCh38	Loss	TRIM32 ASTN2
esv3573372	Chr.9:116559083 - 116722034 on Build GRCh38	Loss	ASTN2-AS1 TRIM32 ASTN2

More Information

• Set Membership: Intragenic, Exonic, Intronic, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

negative regulation of protein localization to cell surface
protein polyubiquitination
tissue homeostasis
actin ubiquitination
response to UV
protein ubiquitination
positive regulation of cell growth
positive regulation of cell migration
regulation of type I interferon production
negative regulation of viral transcription
response to tumor necrosis factor
protein ubiquitination involved in ubiquitin-dependent protein catabolic process
positive regulation of I-kappaB kinase/NF-kappaB signaling
innate immune response
fat cell differentiation
positive regulation of neuron differentiation
positive regulation of protein catabolic process
positive regulation of cell cycle
positive regulation of proteolysis
muscle cell cellular homeostasis
negative regulation of fibroblast proliferation
positive regulation of neurogenesis
positive regulation of sequence-specific DNA binding transcription factor activity
positive regulation of NF-kappaB transcription factor activity
positive regulation of striated muscle cell differentiation
axon development
negative regulation of viral release from host cell
negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage
positive regulation of tumor necrosis factor-mediated signaling pathway
positive regulation of interleukin-17-mediated signaling pathway
positive regulation of chemokine (C-C motif) ligand 20 production
positive regulation of cell motility

Function(s)

calcium ion binding
inositol 1,3,4,5 tetrakisphosphate binding
transcription coactivator activity
RNA binding
ubiquitin-protein transferase activity
protein binding
zinc ion binding
ligase activity
myosin binding
Tat protein binding
translation initiation factor binding
ubiquitin binding
protein self-association
ubiquitin protein ligase activity