Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Orphanet	Ensembl
	HGNC	UniGene	Nucleotide	OMIM		UCSC

Home Page

FLASH GENE

Symbol

TUBA8

contributors: mct/npt - updated : 03-12-2009

HGNC name	tubulin, alpha 8
HGNC id	12410

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	PMGOH polymicrogyria with optic nerve hypoplasia
Location	22q11.21      Physical location : 18.593.452 - 18.614.498
Synonym name	tubulin, alpha-like 2
	tubulin alpha chain-like 2
Synonym symbol(s)	TUBAL2, TBA8

DNA

TYPE	functioning gene
STRUCTURE	20.94 kb     5 Exon(s)

10 Kb 5' upstream gene genomic sequence study

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_018943 5 - 2018 NP_061816 - 449 - Stanchi (2000)

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 Cardiovascular heart         Nervous brain forebrain cerebral cortex   highly Reproductive male system testis       Respiratory lung

tissue

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

cell lineage

cell lines

fluid/secretion

at STAGE

Text	widely expressed in developing neural structures (Abdollahi 2009)

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

interspecies

ortholog to murine Tuba8

Homologene

FAMILY

tubulin family

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytoskeleton,microtubule

basic FUNCTION	major constituent of microtubules
	may be playing a role in regulating mammalian brain development (Abdollahi 2009)
	participates in microtubule assembly in mammalian cells (Abdollahi 2009)
	implicated in a specific aspect of cerebral cortical development (Abdollahi 2009)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

PMGOH

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS