SEMA6B - semaphorin 6B Gene

Homo sapiens

Also known as EPM11; SEMAN; semaZ; SEMA-VIB; SEM-SEMA-Y; SEM-SEMA-Z

Gene ID: 10501 | Gene type: protein coding

About SEMA6B

Cytogenetic location: 19p13.3 Genomic coordinates (GRCh38): 19:4,542,593-4,559,684 (from NCBI)

This gene has 5 transcripts (splice variants), 262 orthologues, 19 paralogues and is associated with 1 phenotype. Broad expression in brain (RPKM 18.7), spleen (RPKM 8.6) and 15 other tissues.

Summary

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]

SEMA6B Products(1)

mRNA	Protein	Name
NM_032108.4	NP_115484.2	semaphorin-6B precursor

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32302524	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in central nervous system development	IMP IMP: Inferred from mutant phenotype	32169168	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SEMA6B Protein Structure

Sema

PSI

0
200
400
600
800
888 a.a.

Protein Preferred Names

Protein Names

semaphorin-6B

sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B

Related Diseases

Diseases

Alias

Epilepsy, Progressive Myoclonic, 11

EPM11	Epilepsy, Progressive Myoclonic 11
Epilepsy, Progressive Myoclonic, Type 11

Epilepsy

Epilepsy Syndrome	Epileptic Syndrome
Epilepsies	Symptomatic Epilepsies
Post Traumatic Epilepsy	Traumatic Epilepsy
Traumatic Epileptic	Epilepsy Due To Hippocampal Sclerosis
Epilepsy With Ammon'S Horn Sclerosis	Epilepsy Due To Cortical Dysplasia
Epilepsy Due To Neuronal Migration Disorders

Diffuse Glomerulonephritis

Glomerulonephritis Diffuse

Kallmann Syndrome

Hypogonadism With Anosmia	Kallman'S Syndrome
Anosmic Hypogonadism	Anosmic Idiopathic Hypogonadotropic Hypogonadism
Hypogonadotropic Hypogonadism And Anosmia	Hypogonadotropic Hypogonadism-Anosmia Syndrome
Olfacto-Genital Pathological Sequence	Familial Hypogonadism With Anosmia
Kallman Syndrome	Dysplasia Olfactogenitalis Of De Morsier
Kallmann'S Syndrome	Congenital Hypogonadotropic Hypogonadism With Anosmia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12666	SEMA6B Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	SEMA6B	MGD	MGI:1202889
Felis catus	SEMA6B	VGNC	VGNC:65000
Canis familiaris	SEMA6B	VGNC	VGNC:46002
Bos taurus	SEMA6B	VGNC	VGNC:34442
Rattus norvegicus	SEMA6B	RGD	RGD:69278

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