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FLASH GENE

Symbol

SEMA4A

contributors: mct/npt - updated : 17-01-2015

HGNC name	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
HGNC id	10729

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CORD10 retinal cone-rod dystrophy 10 RP35 retinitis pigmentosa 35
Location	1q22      Physical location : 156.119.734 - 156.147.541
Synonym name	semaphorin B
Synonym symbol(s)	SEMB, SEMAB, FLJ12287, RP11-54H19.2, RP35, CORD10

DNA

TYPE	functioning gene
STRUCTURE	27.81 kb     15 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_001193300 15 - 3304 NP_001180229 - 761 - 2003 12563299 NM_001193301 15 - 3229 NP_001180230 - 761 - 2003 12563299 NM_022367 15 - 3313 NP_071762 - 761 - 2003 12563299 NM_001193302 13 - 2999 NP_001180231 - 629 - 2003 12563299

EXPRESSION

Type

widely

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 mouth       highly Endocrine thyroid       highly Lymphoid/Immune thymus       highly Visual eye retina

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic         Epithelial barrier lining retinal pigment epithelium (RPE)     Epithelial sensory visual ganglion cell layer   Nervous central

cells

System Cell Pubmed Species Stage Rna symbol Lymphoid/Immune B cell

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	one SEMA domain
	one Ig domain c2 type
	transmembrane domain

HOMOLOGY

Homologene

FAMILY

semaphorin family

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION	inhibition of axonal extension by providing local signals to specify territories inaccessible for growing axons
	involved in the activation of T cells through interactions with TIM2
	playing a crucial role for the differentiation of CD4+ T-cells
	enhancing T-cell activation
	critically involved in the development of myocarditis and dilated cardiomyopathy
	seem to function in the reciprocal stimulation of T cells and antigen-presenting cells (APCs)
	SEMA4A and IFNG expressed in Th1 cells play a critical role in enhancing neurite outgrowth from cortical neurons
	activates a specialized and restricted genetic program in macrophages able to sustain angiogenesis and participates in their recruitment and activation in inflammatory injuries
	regulates two distinct endosomal-sorting pathways that are critical for photoreceptor survival and phototransduction during the transition between daylight and darkness
	is an important regulator of Th2-driven lung pathophysiology
	essential role in photoreceptor survival
	importance of the SEMA4A protein conformation in retina homeostasis
	important regulator of peripheral T and B-cell mediated immune responses
	role played by SEMA4A in the network of spatially and temporally regulated cues underpinning T cell development in the thymus
	is involved in neural patterning and has been implicated in modulating immune function, with haematopoietic cell expression restricted to CD4+ and CD8+ T cells, natural killer cells and dendritic cells

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	plays a role in RAB11FIP2-mediated endosomal sorting in retinal pigment epithelial cells to support photoreceptor function
	SEMA4A and the Treg-cell-expressed receptor NRP1 interact both in vitro, to potentiate Treg-cell function and survival, and in vivo, at inflammatory sites

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CORD10 , RP35

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional   amplification     microduplication associated to behavioural and emotional disturbances including general anxiety disorder, mood disorders, and intellectual disability

Susceptibility

to light exposure, oxidative stress, and ER stress, which may be involved in the progression and pathology of RP

Variant & Polymorphism other	mutations in SEMA4A may cause susceptibility to light exposure, oxidative stress, and ER stress, which may be involved in the progression and pathology of RP

Candidate gene
Marker
Therapy target	potential therapeutic target for autoimmune myocarditis

ANIMAL & CELL MODELS

Sema4A-deficient mice exhibit marked photoreceptor degeneration