SEMA6B
Semaphorin-6B
Also known as: SEM-SEMA-Z, SEM6B_HUMAN, SEMA-VIB, SEMAN, semaZ
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9H3T3
- Gene
- SEMA6B
- Ensembl
- ENSG00000167680
- Chromosome
- 19
- Canonical length
- 888 aa
- Protein class
- Disease related genes, Human disease related genes, Plasma proteins, Predicted membrane proteins
OverviewNCBI Gene
This gene encodes a member of the semaphorin family, a group of proteins characterized by the presence of a conserved semaphorin (sema) domain. Whereas some semaphorins are transmembrane proteins, others are secreted. Semaphorins play a major role in axon guidance. The protein encoded by this gene may be involved in both peripheral and central nervous system development. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
888 residues, UniProt reviewed canonical sequence.
>Q9H3T3|SEMA6B
1 MQTPRASPPR PALLLLLLLL GGAHGLFPEE PPPLSVAPRD YLNHYPVFVG SGPGRLTPAE
61 GADDLNIQRV LRVNRTLFIG DRDNLYRVEL EPPTSTELRY QRKLTWRSNP SDINVCRMKG
121 KQEGECRNFV KVLLLRDEST LFVCGSNAFN PVCANYSIDT LQPVGDNISG MARCPYDPKH
181 ANVALFSDGM LFTATVTDFL AIDAVIYRSL GDRPTLRTVK HDSKWFKEPY FVHAVEWGSH
241 VYFFFREIAM EFNYLEKVVV SRVARVCKND VGGSPRVLEK QWTSFLKARL NCSVPGDSHF
301 YFNVLQAVTG VVSLGGRPVV LAVFSTPSNS IPGSAVCAFD LTQVAAVFEG RFREQKSPES
361 IWTPVPEDQV PRPRPGCCAA PGMQYNASSA LPDDILNFVK THPLMDEAVP SLGHAPWILR
421 TLMRHQLTRV AVDVGAGPWG NQTVVFLGSE AGTVLKFLVR PNASTSGTSG LSVFLEEFET
481 YRPDRCGRPG GGETGQRLLS LELDAASGGL LAAFPRCVVR VPVARCQQYS GCMKNCIGSQ
541 DPYCGWAPDG SCIFLSPGTR AAFEQDVSGA STSGLGDCTG LLRASLSEDR AGLVSVNLLV
601 TSSVAAFVVG AVVSGFSVGW FVGLRERREL ARRKDKEAIL AHGAGEAVLS VSRLGERRAQ
661 GPGGRGGGGG GGAGVPPEAL LAPLMQNGWA KATLLQGGPH DLDSGLLPTP EQTPLPQKRL
721 PTPHPHPHAL GPRAWDHGHP LLPASASSSL LLLAPARAPE QPPAPGEPTP DGRLYAARPG
781 RASHGDFPLT PHASPDRRRV VSAPTGPLDP ASAADGLPRP WSPPPTGSLR RPLGPHAPPA
841 ATLRRTHTFN SGEARPGDRH RGCHARPGTD LAHLLPYGGA DRTAPPVPLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SEMA6B can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 1
- Mean surface accessibility (rSASA)
- 0.41
- Highest tissue expression
- 71 nTPM
Expression across tissuesHPA
Tissue
- hippocampal formation: 71 nTPM
- cerebral cortex: 69 nTPM
- amygdala: 60 nTPM
- basal ganglia: 51 nTPM
- cerebellum: 38 nTPM
- spleen: 29 nTPM
Single-cell type
- monocytes: 175 nCPM
- vascular endothelial cells: 85 nCPM
- macrophages: 58 nCPM
- retinal amacrine cells: 58 nCPM
- neutrophils: 56 nCPM
- cdc: 45 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- cerebral cortex: 214 nTPM
- hippocampal formation: 203 nTPM
- amygdala: 157 nTPM
- thalamus: 130 nTPM
- basal ganglia: 118 nTPM
- white matter: 98 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SEMA6B.
Disease | AllUniProt
Conditions SEMA6B is implicated in, by any mechanism.
- Epilepsy, progressive myoclonic 11 (EPM11) MIM:618876
Disease | GeneticClinVar
27 pathogenic / likely-pathogenic of 350 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Epilepsy, progressive myoclonic, 11
- See cases
- Epilepsy with myoclonic atonic seizures
- Intellectual disability
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.46
- gnomAD pLI
- 0.06
- gnomAD missense Z
- 2.22
- DepMap mean gene effect
- -0.18
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- axon guidance
- central nervous system development
- hippocampus development
- neural crest cell migration
- positive regulation of cell migration
- semaphorin-plexin signaling pathway
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SEMA6B as an antibody target. Whether an autoantibody or antibody against SEMA6B could matter depends on whether native SEMA6B is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SEMA6B is annotated at the cell surface, where native SEMA6B is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label SEMA6B as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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