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FLASH GENE

Symbol

TBL2

contributors: mct - updated : 30-06-2015

HGNC name	transducin (beta)-like 2
HGNC id	11586

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	7q11.23      Physical location : 72.983.278 - 72.993.013
Synonym name	beta transducin-like 2
	Williams-Beuren syndrome chromosome region 13
Synonym symbol(s)	BTRP, WBSCR13, WS-BETATRP, MGC134739

DNA

TYPE	functioning gene
STRUCTURE	9.74 kb     7 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_012453 7 splicing 3041 NP_036585 49.8 447 - 1999 10575226 - - - 5000 - - ubiquitous low 1999 10575226 variant 2 - splicing 1300 - 75 ubiquitous low 1999 10575226 exon 2'

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart         Digestive intestine small intestine     highly Endocrine pancreas         Nervous brain         Reproductive female system uterus cervix   highly   male system testis     highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum cardiac     Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text

placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminal transmembrane region
	four putative WD40 repeats, bipartite nuclear localization signal (NLS) and a consensus leucine zipper domain
	C-terminal WD40 domain

HOMOLOGY

interspecies

ortholog to murine Tbl2

Homologene

FAMILY

beta-transductin protein family

CATEGORY

regulatory , signaling

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,nucleus
text	TBL2 was predominantly mitochondrial

basic FUNCTION

intracellular signaling pathway

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

UBIAD1-TBL2 complex likely functions in oxidative/nitrosative stress, lipid metabolism

INTERACTION

DNA

RNA

small molecule

protein	interaction between UBIAD1 and TBL2 proteins (UBIAD1 was localized to both mitochondrial and non-mitochondrial membranes whereas TBL2 was predominantly mitochondrial)
	serves as a potential regulator of the EIF2AK3 pathway
	TBL2 interacts with PKR-like ER-resident kinase (EIF2AK3), and under ER stress, it mediates protein expression of activating transcription factor 4 (ATF4)
	under ER stress, TBL2 participates in ATF4 translation through its association with the mRNA

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       in Williams-Beuren syndrome with other genes

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS