SEMA6D - semaphorin 6D Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 80031

About SEMA6D

Cytogenetic location: 15q21.1 Genomic coordinates (GRCh38): 15:47,184,089-47,774,228 (from NCBI)

This gene has 17 transcripts (splice variants), 205 orthologues and 19 paralogues. Broad expression in small intestine (RPKM 13.9), placenta (RPKM 10.4) and 19 other tissues.

Summary

Semaphorins are a large family, including both secreted and membrane associated proteins, many of which have been implicated as inhibitors or chemorepellents in axon pathfinding, fasciculation and branching, and target selection. All semaphorins possess a semaphorin (Sema) domain and a PSI domain (found in plexins, semaphorins and integrins) in the N-terminal extracellular portion. Additional sequence motifs C-terminal to the semaphorin domain allow classification into distinct subfamilies. Results demonstrate that transmembrane semaphorins, like the secreted ones, can act as repulsive axon guidance cues. This gene encodes a class 6 vertebrate transmembrane semaphorin that demonstrates alternative splicing. Several transcript variants have been identified and expression of the distinct encoded isoforms is thought to be regulated in a tissue- and development-dependent manner. [provided by RefSeq, Nov 2010]

SEMA6D Products (9)

mRNA Protein Name
NM_001198999.2 NP_001185928.1 semaphorin-6D isoform 1 precursor
NM_001358351.3 NP_001345280.1 semaphorin-6D isoform 4 precursor
NM_001358352.2 NP_001345281.1 semaphorin-6D isoform 7 precursor
NM_020858.2 NP_065909.1 semaphorin-6D isoform 1 precursor
NM_024966.3 NP_079242.2 semaphorin-6D isoform 6 precursor
NM_153616.2 NP_705869.1 semaphorin-6D isoform 2 precursor
NM_153617.2 NP_705870.1 semaphorin-6D isoform 3 precursor
NM_153618.2 NP_705871.1 semaphorin-6D isoform 4 precursor
NM_153619.1 NP_705872.1 semaphorin-6D isoform 5 precursor
Biological Process GO Annotation Evidence References Source
involved in negative regulation of axon extension IDA
IDA: Inferred from direct assay
12110693 GOA
Cellular Component GO Annotation Evidence References Source
located in cell surface IMP
IMP: Inferred from mutant phenotype
12110693 GOA
located in cytoplasm IMP
IMP: Inferred from mutant phenotype
12110693 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

SEMA6D Protein Structure

Sema

Sema: Sema domain (65 - 475)

PSI

PSI: Plexin repeat (514 - 551)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1073 a.a.
Protein Preferred Names Protein Names

semaphorin-6D

  • sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D

Related Diseases

Diseases Alias
Cone-Rod Dystrophy 10
  • CORD10

  • Dystrophy, Cone-Rod, Type 10

Inflammatory Bowel Disease
  • Inflammatory Bowel Diseases

  • Bowel Disease, Inflammatory

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
Canis familiaris SEMA6D VGNC VGNC:46004
Bos taurus SEMA6D VGNC VGNC:34444
Mus musculus SEMA6D MGD MGI:2387661
Felis catus SEMA6D VGNC VGNC:65001
Macaca mulatta SEMA6D VGNC VGNC:77250
Rattus norvegicus SEMA6D RGD RGD:1310910
Others SEMA6D NCBI