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FLASH GENE

Symbol

SEMA6A

contributors: mct/npt - updated : 15-11-2016

HGNC name	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A
HGNC id	10738

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	131.00 kb     19 Exon(s)

10 Kb 5' upstream gene genomic sequence study

text structure

two untranslated exons

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

text	two major transcripts 5 and 7kb

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant 1 19 - 6860 114.4 1030 - Prislei (2008)

EXPRESSION

Type

widely

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 Endocrine adrenal gland       highly Nervous brain hindbrain cerebellum       brain midbrain         brain diencephalon         spinal cord         Olfactory olfactory bulb         Reproductive female system placenta     highly Skin/Tegument skin       highly Visual eye

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Nervous central

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo

Text	highly in brain and kidney, developing neural tissue, fetal eyes

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	an extracellular semaphorin domain
	a transmembrane domain
	a long cytoplasmic tail containing an EVL binding site

conjugated

GlycoP

HOMOLOGY

interspecies

ortholog to murine Sema6a

Homologene

FAMILY

semaphorin family

CATEGORY

signaling , receptor membrane

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION	retrograde signaling
	having a novel function in the cytoskeleton and a playing a role in modulating tubulin isotype composition and microtubule dynamics
	mediate spatially regulated repulsion within the developing eye to promote eye vesicle cohesion
	SEMA6A and its receptor PLXNA2 control the ability of migrating granule cells to switch from one mode of migration to the other (tangentially in the external granule cell layer or radially)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

guidance signals in embryo and organogenesis

a component

INTERACTION

DNA

RNA

small molecule

protein	EMA/VASP
	semaphorin protein families
	interacting with PLXNA2 (semaphorin-plexin signaling modulates cell migration by controlling centrosome positioning)
	FARP1 serves as a specific effector of transmembrane SEMA6A and PLXNA4 signals to regulate lateral motor column (LMC) dendritic growth

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral   deletion     in certain forms of lung cancer

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

homozygous mice for an insertion in the semaphorin domain