SEMA6B - semaphorin 6B Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 10501

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

Sema: Sema domain (73 - 480)

PSI

PSI: Plexin repeat (525 - 562)

  • 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

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
Others SEMA6B NCBI