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

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

Homo sapiens

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

Gene ID: 8482 | Gene type: protein coding

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

SEMA7A Protein Structure

Sema

Sema: Sema domain (77 - 472)

PSI

PSI: Plexin repeat (493 - 527)

Ig_2

Ig_2: Immunoglobulin domain (554 - 619)

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  • 666 a.a.
Protein Preferred Names Protein Names

semaphorin-7A

JMH blood group antigen

Recombinant SEMA7A Proteins

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

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

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