1. Gene
  2. SEMA5B - semaphorin 5B Gene

SEMA5B - semaphorin 5B Gene

Homo sapiens

Also known as SemG; SEMAG

Gene ID: 54437 | Gene type: protein coding

About SEMA5B

Cytogenetic location: 3q21.1 Genomic coordinates (GRCh38): 3:122,909,082-123,028,605 (from NCBI)

This gene has 14 transcripts (splice variants), 269 orthologues and 19 paralogues. Broad expression in brain (RPKM 2.8), heart (RPKM 1.3) and 16 other tissues.

Summary

This gene encodes a member of the semaphorin protein family which regulates axon growth during development of the nervous system. The encoded protein has a characteristic Sema domain near the N-terminus, through which semaphorins bind to plexin, and five thrombospondin type 1 repeats in the C-terminal region of the protein. The protein product may be cleaved and exist as a secreted molecule (PMID: 19463192). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

SEMA5B Products(5)

mRNA Protein Name
NM_001031702.4 NP_001026872.2 semaphorin-5B isoform 1
NM_001256346.2 NP_001243275.1 semaphorin-5B isoform 1
NM_001256347.1 NP_001243276.1 semaphorin-5B isoform 2
NM_001256348.2 NP_001243277.1 semaphorin-5B isoform 3 precursor
NM_001410801.1 NP_001397730.1 semaphorin-5B isoform 4 precursor

SEMA5B Protein Structure

Sema

Sema: Sema domain (126 - 535)

PSI

PSI: Plexin repeat (555 - 602)

TSP_1

TSP_1: Thrombospondin type 1 domain (668 - 719)

TSP_1

TSP_1: Thrombospondin type 1 domain (727 - 770)

TSP_1

TSP_1: Thrombospondin type 1 domain (858 - 907)

TSP_1

TSP_1: Thrombospondin type 1 domain (915 - 964)

TSP_1

TSP_1: Thrombospondin type 1 domain (969 - 1010)

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Protein Preferred Names Protein Names

semaphorin-5B

sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B

Related Diseases

Diseases Alias
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
Rattus norvegicus SEMA5B RGD RGD:1308914
Canis familiaris SEMA5B VGNC VGNC:46000
Macaca mulatta SEMA5B VGNC VGNC:77170
Mus musculus SEMA5B MGD MGI:107555
Bos taurus SEMA5B VGNC VGNC:34440
Felis catus SEMA5B VGNC VGNC:64998