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FLASH GENE

Symbol

BAT2

contributors: - updated : 10-07-2006

HGNC name	HLA-B associated transcript 2
HGNC id	13918

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	6p21.33      Physical location : 2.874.021 - 31.605.553
Synonym name	large proline-rich protein BAT2
Synonym symbol(s)	D6S51E, D6S51, G2

DNA

TYPE	functioning gene
SPECIAL FEATURE	component of a cluster
STRUCTURE	16.00 kb     31 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

confirmed

regionally located

. localized in the vicinity of alpha and beta TNF genes

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant 1 - splicing 6750 228.7 2157 - Iris 31 exons variant 2 - splicing 6921 229 2157 - Iris 32 exons utilizing alternative splice sites in the coding region lacking 36 bases compared to variant 1 but maintaining the same reading frame

EXPRESSION

Type	restricted

constitutive of

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 Digestive intestine small intestine     moderately Lymphoid/Immune lymph node       highly Nervous nerve       moderately Reproductive female system ovary     moderately Skin/Tegument skin       moderately Visual eye       moderately

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular       moderately

cell lineage	cell of leukemic origin
cell lines
fluid/secretion	blood, lymph

at STAGE

physiological period

fetal

Text	umbilical cord

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	very rich proline containing a DEAD box (Asp-Glu-Ala-Asp)
	tracts of polyproline and charged aminoacids

conjugated

PhosphoP

HOMOLOGY

interspecies	ortholog to rattus Bat2 (90pc)
	ortholog to murine Bat2 (90.6pc)

Homologene

FAMILY

DEAD family

CATEGORY

protooncogene

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	acting as a putative helicase RNA, nuclear ATP dependent
	may play a role in the regulation of pre-mRNA splicing

CELLULAR PROCESS

nucleotide, RNA splicing

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

MHC

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

susceptibility gene for early onset IDDM (microsatellite repeats)

Variant & Polymorphism

Candidate gene	for the development of rheumatoid arthritis
Marker
Therapy target

ANIMAL & CELL MODELS