SEMA7A - semaphorin 7A (John Milton Hagen blood group) Gene

Also Known as JMH; CD108; SEMAL; CDw108; PFIC11; SEMAK1; H-Sema-L; H-SEMA-K1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 8482

About SEMA7A

Cytogenetic location: 15q24.1 Genomic coordinates (GRCh38): 15:74,409,289-74,433,958 (from NCBI)

This gene has 4 transcripts (splice variants), 1 gene allele, 202 orthologues, 19 paralogues and is associated with 2 phenotypes. Broad expression in testis (RPKM 25.1), spleen (RPKM 22.9) and 14 other tissues.

Summary

This gene encodes a member of the semaphorin family of proteins. The encoded preproprotein is proteolytically processed to generate the mature glycosylphosphatidylinositol (GPI)-anchored membrane glycoprotein. The encoded protein is found on activated lymphocytes and erythrocytes and may be involved in immunomodulatory and neuronal processes. The encoded protein carries the John Milton Hagen (JMH) blood group antigens. Mutations in this gene may be associated with reduced bone mineral density (BMD). Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]

SEMA7A Products (3)

mRNA Protein Name
NM_001146029.3 NP_001139501.1 semaphorin-7A isoform 2 precursor
NM_001146030.3 NP_001139502.1 semaphorin-7A isoform 3
NM_003612.5 NP_003603.1 semaphorin-7A isoform 1 preproprotein

Gene Ontology

  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
17474147 GOA
Biological Process GO Annotation Evidence References Source
involved in integrin-mediated signaling pathway IDA
IDA: Inferred from direct assay
12879062 GOA
involved in positive regulation of ERK1 and ERK2 cascade IDA
IDA: Inferred from direct assay
12879062 GOA
involved in positive regulation of axon extension IDA
IDA: Inferred from direct assay
12879062 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

SEMA7A Protein Structure

Sema

Sema: Sema domain (77 - 472)

PSI

PSI: Plexin repeat (493 - 527)

Ig_2

Ig_2: Immunoglobulin domain (554 - 619)

  • 0
  • 200
  • 400
  • 600
  • 666 a.a.
Protein Preferred Names Protein Names

semaphorin-7A

  • JMH blood group antigen

SEMA7A Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
SEMA7A O75326 PLXNC1 Homo sapiens O60486
ITC
20727575
Intra
SEMA7A O75326 PLXNC1 Homo sapiens O60486
X-Ray Diffraction
20727575
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant SEMA7A Proteins

Cat. No. Product Name Accession Purity
HY-P78033 Semaphorin-7A/SEMA7A Protein, Human (HEK293, His) O75326-1 (Q45-A648) ≥ 95%, as determined by Bis-Tris PAGE.

SEMA7A Antibodies

Cat. No. Product Name Application Reactivity
HY-P83487 Semaphorin 7A Antibody (YA3232) WB, IHC-P, FC, IP Human
HY-P83487A Semaphorin 7A Antibody (YA3232)(PBS only) WB, IHC-P, FC, IP Human
HY-P83857 Semaphorin 7A Antibody (YA3554) WB, ELISA Human
HY-P83857A Semaphorin 7A Antibody (YA3554)(PBS only) WB, ELISA Human

Related Diseases

Diseases Alias
Cholestasis, Progressive Familial Intrahepatic, 11

  • PFIC11
Blood Group, John Milton Hagen System

  • JMH

  • John Milton Hagen Blood Group System

  • Jmh Blood Group System

  • Blood Group, John-Milton-Hagen System

  • Blood Group System, John Milton Hagen
Chromosome 15q24 Deletion Syndrome

  • 15q24 Microdeletion Syndrome

  • Del(15)(Q24)

  • Monosomy 15q24

  • 15q24 Microdeletion

  • 15q24 Deletion

  • Interstitial Deletion Of Chromosome 15q24
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

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS12668 SEMA7A Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS17855 Sema7a Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS24324 Sema7a Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus SEMA7A VGNC VGNC:80850
Mus musculus SEMA7A MGD MGI:1306826
Macaca mulatta SEMA7A VGNC VGNC:99236
Bos taurus SEMA7A VGNC VGNC:53952
Canis familiaris SEMA7A VGNC VGNC:59128
Rattus norvegicus SEMA7A RGD RGD:1305192
Others SEMA7A NCBI