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FLASH GENE

Symbol

TUBB2B

contributors: mct - updated : 03-06-2014

HGNC name	tubulin, beta 2B
HGNC id	30829

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CFEOM5 congenital fibrosis of the extraocular muscles 5 PMG2 polymicrogyria 2, asymetric
Location	6p25.2      Physical location : 3.224.495 - 3.227.968
Synonym name	class II beta-tubulin isotype
	tubulin, beta polypeptide paralog
Synonym symbol(s)	DKFZp566F223, FLJ98847, MGC8685, bA506K6.1, TUBB-PARALOG

DNA

TYPE	functioning gene
STRUCTURE	3.47 kb     4 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_178012 4 - 2019 NP_821080 - 445 - 2010 20191564

EXPRESSION

Type

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 Nervous brain hindbrain cerebellum   highly Mus musculus Fetal   brain limbic system hippocampus   highly Mus musculus Fetal

cells

System Cell Pubmed Species Stage Rna symbol Nervous Purkinje cell Mus musculus Fetal

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

Homologene

FAMILY

tubulin family

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytoskeleton,microtubule
	intracellular,nucleus

basic FUNCTION	required for neuronal migration (Jaglin 2009)
	different tubulin isotypes may be required for specialized microtubule functions
	critical role in migration/organization and axon guidance processes
	is a major isoform involved in cortical development

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

PMG2 , CFEOM5

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

brdp/brdp homozygous mouse mutants (mutation Tubb2b)are neonatal lethal and have a profoundly dysmorphic brain with a reduced neuroepithelium and ventriculomegaly