Hs01233236_cn

• Gene Symbol: SPTBN2
• Assay Reference Genome Location: Chr.11:66689883 on build GRCh38
• Cytoband: 11q13.2

Target Gene Details

• Entrez Gene ID: 6712
• Gene Name: spectrin beta, non-erythrocytic 2
• Gene Aliases: GTRAP41, SCA5, SCAR14
• Location: Chr.11:66682496-66729361 on Build GRCh38
• Assay Gene Location: Within Exon 34

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SPTBN2	NM_006946.2	28	5943	NP_008877.1
	XM_005274192.4	29	6605	XP_005274249.1
	XM_005274193.3	28	6379	XP_005274250.1
	XM_006718669.3	27	8292	XP_006718732.1
	XM_006718671.3	29	6005	XP_006718734.1
	XM_017018174.1	29	6697	XP_016873663.1
	XM_017018175.1	29	6326	XP_016873664.1
	XM_017018176.1	29	6046	XP_016873665.1
	XM_017018177.1	28	6235	XP_016873666.1
	XM_017018178.1	28	5918	XP_016873667.1
	AB008567.1	28	5943
	AF026487.1	2	176	AAC79502.1
	BC139788.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv518919	Chr.11:66641938 - 66700998 on Build GRCh38	Loss	SPTBN2 RBM4 RBM14-RBM4 RBM4B
nsv522277	Chr.11:66466552 - 66726354 on Build GRCh38	Loss	LOC101928069 CTSF ACTN3 SPTBN2 BBS1 DPP3 RBM4 PELI3 ZDHHC24 CCS CCDC87 RBM14-RBM4 RBM14 RBM4B

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

MAPK cascade
ER to Golgi vesicle-mediated transport
cytoskeleton organization
axon guidance
synapse assembly
vesicle-mediated transport
antigen processing and presentation of exogenous peptide antigen via MHC class II
cerebellar Purkinje cell layer morphogenesis
adult behavior
multicellular organism growth
positive regulation of GTPase activity
actin filament capping
cellular response to ethanol
cell-cell adhesion

Function(s)

actin binding
Ras guanyl-nucleotide exchange factor activity
structural constituent of cytoskeleton
phospholipid binding
cadherin binding involved in cell-cell adhesion