• Gene id: 8482

Gene Summary

• Gene Symbol: SEMA7A   Gene   UCSC   Ensembl
• Aliases: CD108, CDw108, H-SEMA-K1, H-Sema-L, JMH, SEMAK1, SEMAL
• Gene name: semaphorin 7A (John Milton Hagen blood group)
• Alternate names: semaphorin-7A, JMH blood group antigen, John Milton Hagen blood group H-Sema K1, john-Milton-Hargen human blood group Ag, sema K1, sema L, sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A (JMH blood group), sema domain, im,
• Gene location: 15q24.1 (26087280: 26096215)     Exons: 6     NC_000006.12
• Gene summary(Entrez): 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
• OMIM: 607961

Protein Summary

• Protein general information: O75326  
  • 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)
  • Length: 666  
  • Mass: 74,824
• Sequence:

  MTPPPPGRAAPSAPRARVPGPPARLGLPLRLRLLLLLWAAAASAQGHLRSGPRIFAVWKGHVGQDRVDFGQTEPH
  TVLFHEPGSSSVWVGGRGKVYLFDFPEGKNASVRTVNIGSTKGSCLDKRDCENYITLLERRSEGLLACGTNARHP
  SCWNLVNGTVVPLGEMRGYAPFSPDENSLVLFEGDEVYSTIRKQEYNGKIPRFRRIRGESELYTSDTVMQNPQFI
  KATIVHQDQAYDDKIYYFFREDNPDKNPEAPLNVSRVAQLCRGDQGGESSLSVSKWNTFLKAMLVCSDAATNKNF
  NRLQDVFLLPDPSGQWRDTRVYGVFSNPWNYSAVCVYSLGDIDKVFRTSSLKGYHSSLPNPRPGKCLPDQQPIPT
  ETFQVADRHPEVAQRVEPMGPLKTPLFHSKYHYQKVAVHRMQASHGETFHVLYLTTDRGTIHKVVEPGEQEHSFA
  FNIMEIQPFRRAAAIQTMSLDAERRKLYVSSQWEVSQVPLDLCEVYGGGCHGCLMSRDPYCGWDQGRCISIYSSE
  RSVLQSINPAEPHKECPNPKPDKAPLQKVSLAPNSRYYLSCPMESRHATYSWRHKENVEQSCEPGHQSPNCILFI
  ENLTAQQYGHYFCEAQEGSYFREAQHWQLLPEDGIMAEHLLGHACALAASLWLGVLPTLTLGLLVH

• Structural information:
  • Protein Domains: Sema. (53-490)
    Ig-like (544-629)
  • Interpro: IPR007110  IPR036179  IPR013783  IPR002165  IPR016201   IPR001627  IPR036352  IPR027231  IPR015943  
  • Prosite: PS50835 PS51004
  • PDB: 3NVQ
  • PDBsum: 3NVQ
  • STRING: ENSP00000261918
• Other Databases: GeneCards:  SEMA7A  Malacards:  SEMA7A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001649	osteoblast differentiation	IDA	biological process
GO:0001755	neural crest cell migration	IBA	biological process
GO:0005178	integrin binding	IBA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0006954	inflammatory response	IEA	biological process
GO:0006955	immune response	TAS	biological process
GO:0007229	integrin-mediated signaling pathway	IDA	biological process
GO:0009897	external side of plasma membrane	ISS	cellular component
GO:0009897	external side of plasma membrane	IBA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0021988	olfactory lobe development	IEA	biological process
GO:0030335	positive regulation of cell migration	IBA	biological process
GO:0031225	anchored component of membrane	IEA	cellular component
GO:0038191	neuropilin binding	IBA	molecular function
GO:0045773	positive regulation of axon extension	IDA	biological process
GO:0048675	axon extension	IEA	biological process
GO:0050727	regulation of inflammatory response	ISS	biological process
GO:0050727	regulation of inflammatory response	IBA	biological process
GO:0060907	positive regulation of macrophage cytokine production	ISS	biological process
GO:0060907	positive regulation of macrophage cytokine production	IBA	biological process
GO:0070374	positive regulation of ERK1 and ERK2 cascade	IDA	biological process
GO:0005615	extracellular space	IBA	cellular component
GO:0030215	semaphorin receptor binding	IBA	molecular function
GO:0045499	chemorepellent activity	IBA	molecular function
GO:0048843	negative regulation of axon extension involved in axon guidance	IBA	biological process
GO:0050919	negative chemotaxis	IBA	biological process
GO:0071526	semaphorin-plexin signaling pathway	IBA	biological process
GO:0001649	osteoblast differentiation	IDA	biological process
GO:0001755	neural crest cell migration	IBA	biological process
GO:0001934	positive regulation of protein phosphorylation	IEA	biological process
GO:0005178	integrin binding	IEA	molecular function
GO:0005178	integrin binding	IBA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0006954	inflammatory response	IEA	biological process
GO:0006955	immune response	TAS	biological process
GO:0007229	integrin-mediated signaling pathway	IEA	biological process
GO:0007229	integrin-mediated signaling pathway	IDA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0007399	nervous system development	IEA	biological process
GO:0009897	external side of plasma membrane	IEA	cellular component
GO:0009897	external side of plasma membrane	ISS	cellular component
GO:0009897	external side of plasma membrane	IBA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0021988	olfactory lobe development	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0030335	positive regulation of cell migration	IBA	biological process
GO:0031175	neuron projection development	IEA	biological process
GO:0031225	anchored component of membrane	IEA	cellular component
GO:0038191	neuropilin binding	IBA	molecular function
GO:0045773	positive regulation of axon extension	IEA	biological process
GO:0045773	positive regulation of axon extension	IDA	biological process
GO:0048675	axon extension	IEA	biological process
GO:0050727	regulation of inflammatory response	IEA	biological process
GO:0050727	regulation of inflammatory response	ISS	biological process
GO:0050727	regulation of inflammatory response	IBA	biological process
GO:0060907	positive regulation of macrophage cytokine production	IEA	biological process
GO:0060907	positive regulation of macrophage cytokine production	ISS	biological process
GO:0060907	positive regulation of macrophage cytokine production	IBA	biological process
GO:0070374	positive regulation of ERK1 and ERK2 cascade	IEA	biological process
GO:0070374	positive regulation of ERK1 and ERK2 cascade	IDA	biological process
GO:0005615	extracellular space	IBA	cellular component
GO:0030215	semaphorin receptor binding	IBA	molecular function
GO:0045499	chemorepellent activity	IBA	molecular function
GO:0048843	negative regulation of axon extension involved in axon guidance	IBA	biological process
GO:0050919	negative chemotaxis	IBA	biological process
GO:0071526	semaphorin-plexin signaling pathway	IBA	biological process
GO:0001649	osteoblast differentiation	IDA	biological process
GO:0001755	neural crest cell migration	IBA	biological process
GO:0005178	integrin binding	IBA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0006955	immune response	TAS	biological process
GO:0007229	integrin-mediated signaling pathway	IDA	biological process
GO:0009897	external side of plasma membrane	ISS	cellular component
GO:0009897	external side of plasma membrane	IBA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0030335	positive regulation of cell migration	IBA	biological process
GO:0038191	neuropilin binding	IBA	molecular function
GO:0045773	positive regulation of axon extension	IDA	biological process
GO:0050727	regulation of inflammatory response	ISS	biological process
GO:0050727	regulation of inflammatory response	IBA	biological process
GO:0060907	positive regulation of macrophage cytokine production	ISS	biological process
GO:0060907	positive regulation of macrophage cytokine production	IBA	biological process
GO:0070374	positive regulation of ERK1 and ERK2 cascade	IDA	biological process
GO:0005615	extracellular space	IBA	cellular component
GO:0030215	semaphorin receptor binding	IBA	molecular function
GO:0045499	chemorepellent activity	IBA	molecular function
GO:0048843	negative regulation of axon extension involved in axon guidance	IBA	biological process
GO:0050919	negative chemotaxis	IBA	biological process
GO:0071526	semaphorin-plexin signaling pathway	IBA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04360	Axon guidance

Diseases

Associated diseases	References
Congenital hypogonadotropic hypogonadism (CHH)	MIK: 24522099
Congenital hypogonadotropic hypogonadism	MIK: 24522099
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24522099	Congenital hypogonadotropic hypogonadism	SEMA3A (c.458A>G (p.Asn153Ser), c.1253A>G (p.Asn418Ser), and c.1303G>A (p.Val435Ile)), SEMA7A (c.442C>T (p.Arg148Trp) and c.1421G>A (p.Arg474Gln))	Finnish	50 Finnish HH patients (34 with Kallmann syndrome (KS; HH with hyposmia/anosmia) and 16 with normosmic HH (nHH))	Male infertility	SEMA3A  SEMA7A
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq