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

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	17474147	GOA

Biological Process GO Annotation	Evidence	Reference	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

PSI

Ig_2

0
200
400
600
666 a.a.

Protein Preferred Names

Protein Names

semaphorin-7A

JMH blood group antigen

SEMA7A Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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 (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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12668	SEMA7A Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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