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Aliases for SEMA7A Gene

Aliases for SEMA7A Gene

  • Semaphorin 7A, GPI Membrane Anchor (John Milton Hagen Blood Group) 2 3
  • CDw108 3 4 6
  • SEMAL 3 4 6
  • Sema Domain, Immunoglobulin Domain (Ig), And GPI Membrane Anchor, (Semaphorin) 7A (JMH 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
  • SEMAK1 3 6
  • CD108 3 4
  • JMH 3 6
  • 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 K1 3
  • Semaphorin-7A 3
  • CD108 Antigen 4
  • Semaphorin L 3
  • H-Sema K1 2
  • H-SEMA-K1 3
  • H-Sema-L 3

External Ids for SEMA7A Gene

Previous Symbols for SEMA7A Gene

  • SEMAL

Summaries for SEMA7A Gene

Entrez Gene Summary for SEMA7A Gene

  • The protein encoded by this gene binds to cell surfaces through a glycosylphosphatidylinositol (GPI) linkage. The encoded glycoprotein is found on activated lymphocytes and erythrocytes. This protein may be involved in immunomodulatory and neuronal processes. Defects in this gene can result in loss of bone mineral density (BMD). Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2009]

GeneCards Summary for SEMA7A Gene

SEMA7A (Semaphorin 7A, GPI Membrane Anchor (John Milton Hagen Blood Group)) is a Protein Coding gene. Diseases associated with SEMA7A include exotropia and paroxysmal nocturnal hemoglobinuria. Among its related pathways are L1CAM interactions and L1CAM interactions. GO annotations related to this gene include receptor activity and integrin binding. An important paralog of this gene is SEMA6C.

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

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

Genomics for SEMA7A Gene

Genomic Location for SEMA7A Gene

Start:
74,409,289 bp from pter
End:
74,434,467 bp from pter
Size:
25,179 bases
Orientation:
Minus strand

Genomic View for SEMA7A Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SEMA7A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SEMA7A Gene

Regulatory Elements 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

Proteomics data for SEMA7A Gene at MOPED

Post-translational modifications for SEMA7A Gene

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn105, Asn157, Asn258, Asn330, and Asn602

Other Protein References for SEMA7A Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for SEMA7A Gene

Domains for SEMA7A Gene

Gene Families for SEMA7A Gene

HGNC:
  • CD :CD molecules
  • bloodgroup :Blood group antigens
  • IGD :Immunoglobulin superfamily / Immunoglobulin-like domain containing
  • SEMA :Semaphorins

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
Domain:
  • Contains 1 Ig-like C2-type (immunoglobulin-like) domain.:
    • O75326
  • Contains 1 PSI domain.:
    • O75326
  • Contains 1 Sema domain.:
    • O75326
Family:
  • Belongs to the semaphorin family.:
    • O75326
genes like me logo Genes that share domains with SEMA7A: view

Function for SEMA7A Gene

Molecular function for SEMA7A Gene

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
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.

Gene Ontology (GO) - Molecular Function for SEMA7A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004872 receptor activity IEA --
GO:0005178 integrin binding IEA --
GO:0005515 protein binding IPI 17474147
genes like me logo Genes that share ontologies with SEMA7A: view

Phenotypes for SEMA7A Gene

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

Animal Models for SEMA7A Gene

MGI Knock Outs for SEMA7A:

miRNA for SEMA7A Gene

miRTarBase miRNAs that target SEMA7A

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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
Jensen Localization Image for SEMA7A Gene COMPARTMENTS Subcellular localization image for SEMA7A gene
Compartment Confidence
plasma membrane 5
cytosol 1
endoplasmic reticulum 1
extracellular 1
golgi apparatus 1
lysosome 1
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for SEMA7A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0009897 external side of plasma membrane ISS --
GO:0016020 membrane IDA 16210410
GO:0031225 anchored component of membrane IEA --
genes like me logo Genes that share ontologies with SEMA7A: view

Pathways for SEMA7A Gene

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

Pathways by source for SEMA7A Gene

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

Gene Ontology (GO) - Biological Process for SEMA7A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001649 osteoblast differentiation IDA 16210410
GO:0001934 positive regulation of protein phosphorylation IEA --
GO:0006954 inflammatory response IEA --
GO:0006955 immune response TAS 9721204
GO:0007229 integrin-mediated signaling pathway IDA 12879062
genes like me logo Genes that share ontologies with SEMA7A: view

Compounds for SEMA7A Gene

(1) Novoseek inferred chemical compound relationships for SEMA7A Gene

Compound -log(P) Hits PubMed IDs
tyrosine 0 1
genes like me logo Genes that share compounds with SEMA7A: view

Transcripts for SEMA7A Gene

Unigene Clusters for SEMA7A Gene

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

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 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 (5.0) and Brain - Spinal cord (cervical c-1) (4.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SEMA7A Gene

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.
genes like me logo Genes that share expressions with SEMA7A: view

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 35
  • 98.59 (n)
  • 98.04 (a)
SEMA7A 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SEMA7A 35
  • 86.7 (n)
  • 84.19 (a)
SEMA7A 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SEMA7A 35
  • 89.18 (n)
  • 90.44 (a)
SEMA7A 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sema7a 35
  • 87.88 (n)
  • 89.59 (a)
Sema7a 16
Sema7a 36
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SEMA7A 36
  • 62 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SEMA7A 36
  • 63 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sema7a 35
  • 87.53 (n)
  • 89.44 (a)
chicken
(Gallus gallus)
Aves SEMA7A 35
  • 58.8 (n)
  • 49.5 (a)
SEMA7A 36
  • 47 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SEMA7A 36
  • 29 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sema7a 35
  • 46.21 (n)
  • 33.84 (a)
zebrafish
(Danio rerio)
Actinopterygii sema7a 35
  • 46.29 (n)
  • 38 (a)
SEMA7A 36
  • 30 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Sema-1a 36
  • 15 (a)
OneToMany
Sema-1b 36
  • 16 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea mab-20 36
  • 17 (a)
OneToMany
smp-1 36
  • 18 (a)
OneToMany
smp-2 36
  • 18 (a)
OneToMany
Species with no ortholog for SEMA7A:
  • 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)

Paralogs for SEMA7A Gene

Paralogs for SEMA7A Gene

Selected SIMAP similar genes for SEMA7A Gene using alignment to 3 proteins:

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

Variants for SEMA7A Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for SEMA7A Gene

O75326-SEM7A_HUMAN
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 Sequence Context AA Info Type MAF
rs885738 -- 74,413,536(-) GGGGA(A/G)CAGAA intron-variant
rs885739 -- 74,413,438(-) TGGGA(A/G)GTGAG intron-variant
rs1046146 -- 74,414,602(+) CGGTG(A/G)ACGGC reference, synonymous-codon
rs1370485 -- 74,428,945(+) GGCCC(G/T)CCATC intron-variant, upstream-variant-2KB
rs1437655 -- 74,433,482(-) CTGGC(A/T)GCCAG intron-variant

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

Variant ID Type Subtype PubMed ID
dgv2406n71 CNV Loss 21882294
nsv904353 CNV Gain 21882294
nsv904354 CNV Gain+Loss 21882294
dgv2407n71 CNV Gain 21882294
esv2749879 CNV Deletion 23290073
dgv2408n71 CNV Gain 21882294
dgv2409n71 CNV Loss 21882294
dgv2410n71 CNV Gain 21882294
dgv2411n71 CNV Loss 21882294
nsv904369 CNV Gain 21882294
dgv2412n71 CNV Loss 21882294
nsv904371 CNV Loss 21882294
nsv904373 CNV Loss 21882294
dgv2413n71 CNV Loss 21882294
esv24909 CNV Loss 19812545

Relevant External Links for SEMA7A Gene

HapMap Linkage Disequilibrium report
SEMA7A
Human Gene Mutation Database (HGMD)
SEMA7A

Disorders for SEMA7A Gene

(1) OMIM Diseases for SEMA7A Gene (607961)

(1) University of Copenhagen DISEASES for SEMA7A Gene

(2) Novoseek inferred disease relationships for SEMA7A Gene

Disease -log(P) Hits PubMed IDs
melanoma 8.16 1
tumors 0 1

Relevant External Links for SEMA7A

Genetic Association Database (GAD)
SEMA7A
Human Genome Epidemiology (HuGE) Navigator
SEMA7A
genes like me logo Genes that share disorders with SEMA7A: view

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

Publications for SEMA7A Gene

  1. Molecular cloning of a glycosylphosphatidylinositol-anchored molecule CDw108. (PMID: 10201933) Yamada A. … Itoh K. (J. Immunol. 1999) 3 4 23
  2. Characterization of the human leukocyte GPI-anchored glycoprotein CDw108 and its relation to other similar molecules. (PMID: 10416131) Angelisova P. … Horejsi V. (Immunobiology 1999) 3 4 23
  3. Human semaphorin K1 is glycosylphosphatidylinositol-linked and defines a new subfamily of viral-related semaphorins. (PMID: 9712866) Xu X. … Luo Y. (J. Biol. Chem. 1998) 3 4 23
  4. Semaphorin 7A promotes axon outgrowth through integrins and MAPKs. (PMID: 12879062) Pasterkamp R.J. … Kolodkin A.L. (Nature 2003) 3 4 23
  5. The molecular diversity of Sema7A, the semaphorin that carries the JMH blood group antigens. (PMID: 17207242) Seltsam A. … Blasczyk R. (Transfusion 2007) 3 4 23

Products for SEMA7A Gene

Sources for SEMA7A Gene

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