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FLASH GENE

Symbol

SEMA6B

contributors: mct - updated : 25-08-2020

HGNC name	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B
HGNC id	10739

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	EPM11 epilepsy, progressive myoclonic, 11
Location	19p13.3      Physical location : 4.542.599 - 4.558.503
Synonym name	semaphorin RS, short form
Synonym symbol(s)	SEMAN, MAZ, SEMAZ, SEMA-VIB, SEM-SEMA-Y

DNA

TYPE	functioning gene
STRUCTURE	38.90 kb     17 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_032108 17 - 3862 NP_115484 95.3 888 - 2004 15177567 being a type I transmembrane protein SEMA6B1 - splicing 2005 57.5 517 - 2004 15177567 lacking the 3' portion of exon 12 through the 5' portion of exon 16 of variant SEMA6B3, a sequence that includes the stop codon used by SEMA6B3 having a different C-terminal sequence than SEMA6B3 lacking a transmembrane domain and is thought to be secreted SEMA6B2 - splicing 2500 74.6 682 - 2004 15177567 lacking 1305 nt that are present within the last exon (16) of variant SEMA6B3, a sequence that includes the stop codon used by SEMA6B3 having a transmembrane domain SEMA6Ba - - - - - localized to the endoplasmic reticulum and plasma membrane, in breast cancer 2013 23665584 has a novel splice junction, created by the usage of alternative donor and acceptor splice sites internal to the exon 17 lacks the cytoplasmic tail, crucial for triggering the reverse signaling described for the transmembrane semaphorins

EXPRESSION

Type	restricted

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       lowly Digestive intestine small intestine     highly   stomach       moderately Nervous brain forebrain cerebral cortex   highly Homo sapiens Adult   brain hindbrain cerebellum     Homo sapiens Skin/Tegument skin       moderately

tissue

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

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron Homo sapiens Nervous Purkinje cell Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text	fetal eyes

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

a SEMA domain

conjugated

GlycoP

HOMOLOGY

interspecies	ortholog to rattus Sema6b
	ortholog to murine Sema6b
	homolog to drosophila sema-1a
	homolog to C. elegans mab-20

Homologene

FAMILY

semaphorins axon-guidance family

CATEGORY

transcription factor , signaling , receptor membrane

SUBCELLULAR LOCALIZATION	extracellular
	plasma membrane
text	integral to membrane
	type I membrane protein

basic FUNCTION	acting as an axon guidance inhibitor
	may play a role in both peripheral and central nervous system development

CELLULAR PROCESS

nucleotide, transcription

PHYSIOLOGICAL PROCESS

development

text	neurogenesis

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

repressed by

PPARs

Other

ATRA treatment (all-trans-retinoic acid)

ASSOCIATED DISORDERS

corresponding disease(s)

EPM11

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   downregulated in glioblastoma cell lines (treated by ATRA)

Susceptibility

Variant & Polymorphism

Candidate gene
Marker	reliable biomarker for diagnosis, evaluation and gene-targeted therapy of gastric cancer
Therapy target

ANIMAL & CELL MODELS