SEMA7A (semaphorin 7A (JohnMiltonHagen blood group))

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 8482
Gene name Semaphorin 7A (JohnMiltonHagen blood group)
Gene symbol SEMA7A
Synonyms (NCBI Gene)
CD108CDw108H-SEMA-K1H-Sema-LJMHPFIC11SEMAK1SEMAL
Chromosome 15
Chromosome location 15q24.1
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 lym
SNPs SNP information provided by dbSNP.
3
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (3)
SNP ID Visualize variation Clinical significance Consequence
rs55637216 C>T Affects Missense variant, coding sequence variant
rs56367230 G>A,C Affects Missense variant, coding sequence variant
rs387907241 C>A,T Affects Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
191
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (191)
miRTarBase ID miRNA Experiments Reference
MIRT040303 hsa-miR-615-3p CLASH 23622248
MIRT437947 hsa-miR-27a-3p ChIP-seqqRT-PCRLuciferase reporter assayWestern blot 24725595
MIRT437947 hsa-miR-27a-3p ChIP-seqqRT-PCRLuciferase reporter assayWestern blot 24725595
MIRT437947 hsa-miR-27a-3p ChIP-seqqRT-PCRLuciferase reporter assayWestern blot 24725595
MIRT437947 hsa-miR-27a-3p ChIP-seqqRT-PCRLuciferase reporter assayWestern blot 24725595
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0001649 Process Osteoblast differentiation HDA 16210410
GO:0001755 Process Neural crest cell migration IBA
GO:0005178 Function Integrin binding IBA
GO:0005178 Function Integrin binding IEA
GO:0005515 Function Protein binding IPI 17474147, 20727575
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
607961 10741 ENSG00000138623
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O75326
Protein name Semaphorin-7A (CDw108) (JMH blood group antigen) (John-Milton-Hargen human blood group Ag) (Semaphorin-K1) (Sema K1) (Semaphorin-L) (Sema L) (CD antigen CD108)
Protein 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 phosphorylatio
PDB 3NVQ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01403 Sema 77 → 472 Sema domain Family
PF01437 PSI 492 → 550 Plexin repeat Family
PF13895 Ig_2 545 → 628 Immunoglobulin domain Domain
Tissue specificity 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 cord, lung, heart, adrenal gland,
Sequence
Sequence length 666
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Axon guidance   Other semaphorin interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cholestasis, progressive familial intrahepatic, 11 Pathogenic rs200895370 RCV002248475
Show/Hide Unknown Diseases (16)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs28362914 RCV005935386
Cervical cancer Benign rs28362914 RCV005935387
Clear cell carcinoma of kidney Uncertain significance; Benign rs372161007, rs150179930 RCV005932650
RCV005938963
Colon adenocarcinoma Benign rs28362914 RCV005935385
Show/Hide Text Mining Associations (26)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 37543671
Arthritis Associate 31394943
Arthritis Rheumatoid Associate 16778393
Asthma Associate 24333536, 38022556
Atherosclerosis Associate 31990411
Carcinoma Renal Cell Associate 35955933
Colorectal Neoplasms Associate 38092774
Conjunctivitis Allergic Associate 24368924
Cytokine Release Syndrome Associate 34826456
Exanthema Associate 31394943