Hs00270400_cn

• Gene Symbol: FKBP1B
• Assay Reference Genome Location: Chr.2:24060822 on build GRCh38
• Cytoband: 2p23.3

Target Gene Details

• Entrez Gene ID: 2281
• Gene Name: FK506 binding protein 1B
• Gene Aliases: FKBP12.6, FKBP1L, OTK4, PKBP1L, PPIase
• Location: Chr.2:24033205-24067743 on Build GRCh38
• Assay Gene Location: Overlaps Intron 5 - Exon 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
FKBP1B	NM_001322963.1			NP_001309892.1
	NM_001322964.1			NP_001309893.1
	NM_004116.4			NP_004107.1
	NM_054033.3			NP_473374.1
	NR_136536.1
	NR_136538.1
	NR_136539.1
	XM_011532699.2			XP_011531001.1
	XM_017003593.1			XP_016859082.1
	XM_017003594.1			XP_016859083.1
	XM_017003595.1			XP_016859084.1
	XM_017003596.1			XP_016859085.1
	AF322070.1			AAK11191.1
	BC002614.1			AAH02614.1
	BF216711.1
	BF969580.1
	BI546013.1
	BM802489.1
	BU147063.1
	BU508033.1
	D38037.1			BAA07232.1
	L37086.1			AAC37581.1
	S69800.1			AAB30685.1
	S69815.1			AAB30684.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv997445	Chr.2:23357900 - 24374347 on Build GRCh38	Gain	MFSD2B ITSN2 UBXN2A LOC105374325 FAM228B PFN4 KLHL29 WDCP TP53I3 FAM228A SF3B6 FKBP1B ATAD2B
nsv997725	Chr.2:24052436 - 25123406 on Build GRCh38	Gain	ITSN2 DNAJC27-AS1 NCOA1 FAM228B PFN4 DNAJC27 CENPO TP53I3 FAM228A SF3B6 EFR3B FKBP1B PTRHD1 ADCY3

More Information

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

Panther Classification:

Molecular Function -

chaperone

Gene Ontology Categories:

Process(es)

protein peptidyl-prolyl isomerization
'de novo' protein folding
smooth muscle contraction
response to glucose
negative regulation of heart rate
regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum
regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion
release of sequestered calcium ion into cytosol by sarcoplasmic reticulum
neuronal action potential propagation
protein maturation by protein folding
insulin secretion
negative regulation of protein phosphatase type 2B activity
response to vitamin E
ion transmembrane transport
calcium-mediated signaling using intracellular calcium source
protein refolding
T cell proliferation
response to hydrogen peroxide
positive regulation of axon regeneration
negative regulation of release of sequestered calcium ion into cytosol
positive regulation of sequestering of calcium ion
regulation of cytosolic calcium ion concentration
response to redox state
regulation of ryanodine-sensitive calcium-release channel activity
negative regulation of ryanodine-sensitive calcium-release channel activity
chaperone-mediated protein folding
negative regulation of insulin secretion involved in cellular response to glucose stimulus
cell communication by electrical coupling involved in cardiac conduction
regulation of cardiac conduction

Function(s)

peptidyl-prolyl cis-trans isomerase activity
receptor binding
ryanodine-sensitive calcium-release channel activity
protein binding
FK506 binding
calcium channel inhibitor activity
cyclic nucleotide binding
ion channel binding