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Aliases for SEMA7A Gene

Aliases for SEMA7A Gene

  • Semaphorin 7A (John Milton Hagen Blood Group) 2 3 5
  • Sema Domain, Immunoglobulin Domain (Ig), And GPI Membrane Anchor, (Semaphorin) 7A (JMH Blood Group) 2 3
  • Semaphorin 7A, GPI Membrane Anchor (John Milton Hagen Blood Group) 2 3
  • John-Milton-Hargen Human Blood Group Ag 3 4
  • JMH Blood Group Antigen 3 4
  • Semaphorin-K1 3 4
  • Semaphorin-L 3 4
  • Sema K1 3 4
  • Sema L 3 4
  • CDw108 3 4
  • SEMAL 3 4
  • CD108 3 4
  • Sema Domain, Immunoglobulin Domain (Ig), And GPI Membrane Anchor, (Semaphorin) 7A 2
  • Sema Domain, Immunoglobulin Domain (Ig), And GPI Membrane Anchor, 7A 3
  • John Milton Hagen Blood Group H-Sema K1 3
  • John Milton Hagen Blood Group 2
  • Semaphorin-7A 3
  • CD108 Antigen 4
  • H-SEMA-K1 3
  • H-Sema K1 2
  • H-Sema-L 3
  • SEMAK1 3
  • JMH 3

External Ids for SEMA7A Gene

Previous HGNC Symbols for SEMA7A Gene

  • SEMAL

Previous GeneCards Identifiers for SEMA7A Gene

  • GC15M070720
  • GC15M067816
  • GC15M072278
  • GC15M072418
  • GC15M072489
  • GC15M074701
  • GC15M051497

Summaries for SEMA7A Gene

Entrez Gene Summary for SEMA7A Gene

  • 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]

GeneCards Summary for SEMA7A Gene

SEMA7A (Semaphorin 7A (John Milton Hagen Blood Group)) is a Protein Coding gene. Diseases associated with SEMA7A include Blood Group, John Milton Hagen System and Chromosome 15Q24 Deletion Syndrome. Among its related pathways are Developmental Biology and Semaphorin Signaling. Gene Ontology (GO) annotations related to this gene include integrin binding. An important paralog of this gene is SEMA5B.

UniProtKB/Swiss-Prot for SEMA7A Gene

  • Plays an important role in integrin-mediated signaling and functions both in regulating cell migration and immune responses. Promotes formation of focal adhesion complexes, activation of the protein kinase PTK2/FAK1 and subsequent phosphorylation of MAPK1 and MAPK3. Promotes production of proinflammatory cytokines by monocytes and macrophages. Plays an important role in modulating inflammation and T-cell-mediated immune responses. Promotes axon growth in the embryonic olfactory bulb. Promotes attachment, spreading and dendrite outgrowth in melanocytes.

Gene Wiki entry for SEMA7A Gene

Additional gene information for SEMA7A Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SEMA7A Gene

Genomics for SEMA7A Gene

GeneHancer (GH) Regulatory Elements for SEMA7A Gene

Promoters and enhancers for SEMA7A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15J074412 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 658.6 +9.8 9775 22.6 HDGF PKNOX1 SMAD1 FOXA2 ARID4B SIN3A ZNF2 YY1 POLR2B ZNF207 SEMA7A ENSG00000260274 MAN2C1 EDC3 CLK3 LOC101929333 PML COMMD4 ENSG00000212279 UBL7-AS1
GH15J074380 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 17 +41.3 41298 24.1 ZFP64 IRF4 SLC30A9 E2F8 ZNF143 ZNF263 SP3 NFYC ZC3H11A MEF2D CYP11A1 EDC3 ENSG00000260274 CLK3 MAN2C1 COMMD4 LOC101929333 SEMA7A ENSG00000212279 LOXL1
GH15J074460 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE 11.8 -27.7 -27665 3.1 CLOCK FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 UBL7 PIR40033 UBL7-AS1 SIN3A CLK3 LOC101929333 MAN2C1 PML ENSG00000260274 ARID3B
GH15J074373 Promoter/Enhancer 2 FANTOM5 Ensembl ENCODE dbSUPER 12.6 +59.8 59755 2 PKNOX1 ARNT ARID4B SIN3A ZNF2 ZNF213 ZNF207 ZNF143 FOS KLF13 ENSG00000274937 CSK SEMA7A UBL7 UBL7-AS1 ARID3B ENSG00000212279 CYP11A1 SCAMP2 PPIAP46
GH15J074361 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 12 +68.1 68064 9 ATF1 SREBF2 ZFP64 SIN3A ZNF48 RARA SCRT2 RCOR1 ATF7 CREM CYP11A1 ENSG00000261821 CSK SEMA7A UBL7 UBL7-AS1 ENSG00000212279 ARID3B SCAMP5 PPIAP46
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SEMA7A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SEMA7A gene promoter:

Genomic Locations for SEMA7A Gene

Genomic Locations for SEMA7A Gene
chr15:74,409,289-74,433,958
(GRCh38/hg38)
Size:
24,670 bases
Orientation:
Minus strand
chr15:74,701,630-74,726,808
(GRCh37/hg19)

Genomic View for SEMA7A Gene

Genes around SEMA7A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SEMA7A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SEMA7A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SEMA7A Gene

Proteins for SEMA7A Gene

  • Protein details for SEMA7A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75326-SEM7A_HUMAN
    Recommended name:
    Semaphorin-7A
    Protein Accession:
    O75326
    Secondary Accessions:
    • B4DDP7
    • F5H1S0
    • Q1XE81
    • Q1XE82
    • Q1XE83
    • Q1XE84
    • Q3MIY5

    Protein attributes for SEMA7A Gene

    Size:
    666 amino acids
    Molecular mass:
    74824 Da
    Quaternary structure:
    • Interacts with ITGA1 and ITGB1 (Probable). Interacts with PLXNC1.

    Three dimensional structures from OCA and Proteopedia for SEMA7A Gene

    Alternative splice isoforms for SEMA7A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SEMA7A Gene

Post-translational modifications for SEMA7A Gene

  • Glycosylation at posLast=602602, isoforms=2330, posLast=258258, isoforms=2157, and posLast=105105
  • Modification sites at PhosphoSitePlus

Other Protein References for SEMA7A Gene

No data available for DME Specific Peptides for SEMA7A Gene

Domains & Families for SEMA7A Gene

Gene Families for SEMA7A Gene

HGNC:
Human Protein Atlas (HPA):
  • Blood group antigen proteins
  • CD markers
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for SEMA7A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O75326

UniProtKB/Swiss-Prot:

SEM7A_HUMAN :
  • Belongs to the semaphorin family.
Family:
  • Belongs to the semaphorin family.
genes like me logo Genes that share domains with SEMA7A: view

Function for SEMA7A Gene

Molecular function for SEMA7A Gene

UniProtKB/Swiss-Prot Function:
Plays an important role in integrin-mediated signaling and functions both in regulating cell migration and immune responses. Promotes formation of focal adhesion complexes, activation of the protein kinase PTK2/FAK1 and subsequent phosphorylation of MAPK1 and MAPK3. Promotes production of proinflammatory cytokines by monocytes and macrophages. Plays an important role in modulating inflammation and T-cell-mediated immune responses. Promotes axon growth in the embryonic olfactory bulb. Promotes attachment, spreading and dendrite outgrowth in melanocytes.
UniProtKB/Swiss-Prot Induction:
Up-regulated in UV-irradiated fibroblasts, but not in UV-irradiated keratinocytes.
GENATLAS Biochemistry:
semaphorin 7A,74.8kDa,expressed in the placenta,spleen,thymus and gonadal tissues,ligand for the plexin C1,putative counterpart of the viral semaphorin VB

Phenotypes From GWAS Catalog for SEMA7A Gene

Gene Ontology (GO) - Molecular Function for SEMA7A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005178 integrin binding IBA --
GO:0005515 protein binding IPI 17474147
GO:0030215 semaphorin receptor binding IBA --
GO:0038191 neuropilin binding IBA --
GO:0045499 chemorepellent activity IBA --
genes like me logo Genes that share ontologies with SEMA7A: view
genes like me logo Genes that share phenotypes with SEMA7A: view

Animal Models for SEMA7A Gene

MGI Knock Outs for SEMA7A:

Animal Model Products

  • Taconic Biosciences Mouse Models for SEMA7A

miRNA for SEMA7A Gene

miRTarBase miRNAs that target SEMA7A

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SEMA7A Gene

Localization for SEMA7A Gene

Subcellular locations from UniProtKB/Swiss-Prot for SEMA7A Gene

Cell membrane; Lipid-anchor, GPI-anchor; Extracellular side. Note=Detected in a punctate pattern on the cell membrane of basal and supra-basal skin keratinocytes.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SEMA7A gene
Compartment Confidence
plasma membrane 5
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
cytosol 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SEMA7A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 NOT extracellular space IBA --
GO:0005886 plasma membrane TAS --
GO:0009897 external side of plasma membrane ISS --
GO:0016020 membrane HDA,IEA 16210410
GO:0031225 anchored component of membrane IEA --
genes like me logo Genes that share ontologies with SEMA7A: view

Pathways & Interactions for SEMA7A Gene

genes like me logo Genes that share pathways with SEMA7A: view

Pathways by source for SEMA7A Gene

1 KEGG pathway for SEMA7A Gene
1 Qiagen pathway for SEMA7A Gene

SIGNOR curated interactions for SEMA7A Gene

Activates:

Gene Ontology (GO) - Biological Process for SEMA7A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001649 osteoblast differentiation HDA 16210410
GO:0001755 neural crest cell migration IBA --
GO:0001934 positive regulation of protein phosphorylation IEA --
GO:0006954 inflammatory response IEA --
GO:0006955 immune response TAS 9721204
genes like me logo Genes that share ontologies with SEMA7A: view

Drugs & Compounds for SEMA7A Gene

(1) Drugs for SEMA7A Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with SEMA7A: view

Transcripts for SEMA7A Gene

mRNA/cDNA for SEMA7A Gene

Unigene Clusters for SEMA7A Gene

Semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SEMA7A Gene

No ASD Table

Relevant External Links for SEMA7A Gene

GeneLoc Exon Structure for
SEMA7A
ECgene alternative splicing isoforms for
SEMA7A

Expression for SEMA7A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SEMA7A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SEMA7A Gene

This gene is overexpressed in Spleen (x5.0) and Brain - Spinal cord (cervical c-1) (x4.0).

Protein differential expression in normal tissues from HIPED for SEMA7A Gene

This gene is overexpressed in Vitreous humor (39.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SEMA7A Gene



NURSA nuclear receptor signaling pathways regulating expression of SEMA7A Gene:

SEMA7A

SOURCE GeneReport for Unigene cluster for SEMA7A Gene:

Hs.24640

mRNA Expression by UniProt/SwissProt for SEMA7A Gene:

O75326-SEM7A_HUMAN
Tissue specificity: Detected in skin keratinocytes and on endothelial cells from skin blood vessels (at protein level). Expressed in fibroblasts, keratinocytes, melanocytes, placenta, testis, ovary, spleen, brain, spinal chord, lung, heart, adrenal gland, lymph nodes, thymus, intestine and kidney.

Evidence on tissue expression from TISSUES for SEMA7A Gene

  • Nervous system(4.9)
  • Blood(4.3)
genes like me logo Genes that share expression patterns with SEMA7A: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for SEMA7A Gene

Orthologs for SEMA7A Gene

This gene was present in the common ancestor of animals.

Orthologs for SEMA7A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SEMA7A 34 33
  • 98.59 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SEMA7A 34 33
  • 89.18 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Sema7a 16 34 33
  • 87.88 (n)
rat
(Rattus norvegicus)
Mammalia Sema7a 33
  • 87.53 (n)
cow
(Bos Taurus)
Mammalia SEMA7A 34 33
  • 86.7 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SEMA7A 34
  • 63 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SEMA7A 34
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves SEMA7A 34 33
  • 58.8 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SEMA7A 34
  • 29 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sema7a 33
  • 46.21 (n)
zebrafish
(Danio rerio)
Actinopterygii sema7a 33
  • 46.29 (n)
SEMA7A 34
  • 30 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Sema-1b 34
  • 16 (a)
OneToMany
Sema-1a 34
  • 15 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea smp-1 34
  • 18 (a)
OneToMany
smp-2 34
  • 18 (a)
OneToMany
mab-20 34
  • 17 (a)
OneToMany
Species where no ortholog for SEMA7A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SEMA7A Gene

ENSEMBL:
Gene Tree for SEMA7A (if available)
TreeFam:
Gene Tree for SEMA7A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SEMA7A: view image

Paralogs for SEMA7A Gene

Paralogs for SEMA7A Gene

(4) SIMAP similar genes for SEMA7A Gene using alignment to 3 proteins:

  • SEM7A_HUMAN
  • F5GYX3_HUMAN
  • H3BMF9_HUMAN
genes like me logo Genes that share paralogs with SEMA7A: view

Variants for SEMA7A Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for SEMA7A Gene

SEM7A_HUMAN-O75326
Genetic variations in SEMA7A define the John Milton Hagen blood group system (JMH) [MIM:614745]. Three different JMH phenotypes have been identified based on the presence or absence of the high-frequency JMH antigen: JMH-weak, JMH-negative, and JMH-variant. The JMH-weak and -negative phenotypes can be either acquired or inherited and are characterized by a reduction or complete loss of JMH expression on red blood cells. Individuals with the JMH-variant phenotype are usually JMH-positive and have alloantibodies compatible with JMH-negative red blood cells. The JMH-variant phenotype results from rare SEMA7A missense variants.

Sequence variations from dbSNP and Humsavar for SEMA7A Gene

SNP ID Clin Chr 15 pos Variation AA Info Type
rs387907241 affects, John Milton Hagen blood group system 74,414,893(-) C/A/T coding_sequence_variant, missense_variant
rs55637216 affects, John Milton Hagen blood group system 74,417,376(-) C/T coding_sequence_variant, missense_variant
rs56001514 affects, John Milton Hagen blood group system 74,411,926(-) G/A coding_sequence_variant, missense_variant
rs56204206 affects, John Milton Hagen blood group system 74,411,928(-) C/T coding_sequence_variant, missense_variant
rs56367230 affects, John Milton Hagen blood group system 74,417,377(-) G/A coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for SEMA7A Gene

Variant ID Type Subtype PubMed ID
dgv4623n54 CNV loss 21841781
dgv4624n54 CNV loss 21841781
dgv4625n54 CNV loss 21841781
dgv4626n54 CNV loss 21841781
esv24909 CNV loss 19812545
esv2749879 CNV deletion 23290073
nsv1121512 CNV deletion 24896259
nsv569974 CNV gain 21841781
nsv569976 CNV loss 21841781
nsv569979 CNV loss 21841781
nsv569982 CNV gain 21841781
nsv569987 CNV loss 21841781
nsv569990 CNV loss 21841781

Variation tolerance for SEMA7A Gene

Residual Variation Intolerance Score: 39.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.79; 47.42% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SEMA7A Gene

Human Gene Mutation Database (HGMD)
SEMA7A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SEMA7A

Disorders for SEMA7A Gene

MalaCards: The human disease database

(3) MalaCards diseases for SEMA7A Gene - From: HGMD, OMIM, GTR, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
blood group, john milton hagen system
  • jmh
chromosome 15q24 deletion syndrome
  • 15q24 microdeletion syndrome
hemoglobinuria
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SEMA7A

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SEMA7A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SEMA7A Gene

Publications for SEMA7A Gene

  1. Semaphorin 7a promotes spreading and dendricity in human melanocytes through beta1-integrins. (PMID: 17671519) Scott GA … Fricke AF (The Journal of investigative dermatology 2008) 3 4 22 58
  2. Semaphorin 7A initiates T-cell-mediated inflammatory responses through alpha1beta1 integrin. (PMID: 17377534) Suzuki K … Kikutani H (Nature 2007) 3 4 22 58
  3. The molecular diversity of Sema7A, the semaphorin that carries the JMH blood group antigens. (PMID: 17207242) Seltsam A … Blasczyk R (Transfusion 2007) 3 4 22 58
  4. Association study of semaphorin 7a (sema7a) polymorphisms with bone mineral density and fracture risk in postmenopausal Korean women. (PMID: 16372136) Koh JM … Kim SY (Journal of human genetics 2006) 3 22 44 58
  5. Semaphorin 7A promotes axon outgrowth through integrins and MAPKs. (PMID: 12879062) Pasterkamp RJ … Kolodkin AL (Nature 2003) 3 4 22 58

Products for SEMA7A Gene

Sources for SEMA7A Gene

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