• Gene id: 10371

Gene Summary

• Gene Symbol: SEMA3A   Gene   UCSC   Ensembl
• Aliases: COLL1, HH16, Hsema-I, Hsema-III, SEMA1, SEMAD, SEMAIII, SEMAL, SemD, coll-1
• Gene name: semaphorin 3A
• Alternate names: semaphorin-3A, collapsin 1, sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A, semaphorin D, semaphorin III, semaphorin L,
• Gene location: 7q21.11 (74433958: 74409283)     Exons: 15     NC_000015.10
• Gene summary(Entrez): This gene is a member of the semaphorin family and encodes a protein with an Ig-like C2-type (immunoglobulin-like) domain, a PSI domain and a Sema domain. This secreted protein can function as either a chemorepulsive agent, inhibiting axonal outgrowth, or
• OMIM: 603961

Protein Summary

• Protein general information: Q14563  
  • Name: Semaphorin 3A (Semaphorin III) (Sema III)
  • Length: 771  
  • Mass: 88,889
• Sequence:

  MGWLTRIVCLFWGVLLTARANYQNGKNNVPRLKLSYKEMLESNNVITFNGLANSSSYHTFLLDEERSRLYVGAKD
  HIFSFDLVNIKDFQKIVWPVSYTRRDECKWAGKDILKECANFIKVLKAYNQTHLYACGTGAFHPICTYIEIGHHP
  EDNIFKLENSHFENGRGKSPYDPKLLTASLLIDGELYSGTAADFMGRDFAIFRTLGHHHPIRTEQHDSRWLNDPK
  FISAHLISESDNPEDDKVYFFFRENAIDGEHSGKATHARIGQICKNDFGGHRSLVNKWTTFLKARLICSVPGPNG
  IDTHFDELQDVFLMNFKDPKNPVVYGVFTTSSNIFKGSAVCMYSMSDVRRVFLGPYAHRDGPNYQWVPYQGRVPY
  PRPGTCPSKTFGGFDSTKDLPDDVITFARSHPAMYNPVFPMNNRPIVIKTDVNYQFTQIVVDRVDAEDGQYDVMF
  IGTDVGTVLKVVSIPKETWYDLEEVLLEEMTVFREPTAISAMELSTKQQQLYIGSTAGVAQLPLHRCDIYGKACA
  ECCLARDPYCAWDGSACSRYFPTAKRRTRRQDIRNGDPLTHCSDLHHDNHHGHSPEERIIYGVENSSTFLECSPK
  SQRALVYWQFQRRNEERKEEIRVDDHIIRTDQGLLLRSLQQKDSGNYLCHAVEHGFIQTLLKVTLEVIDTEHLEE
  LLHKDDDGDGSKTKEMSNSMTPSQKVWYRDFMQLINHPNLNTMDEFCEQVWKRDRKQRRQRPGHTPGNSNKWKHL
  QENKKGRNRRTHEFERAPRSV

• Structural information:
  • Protein Domains: Sema. (31-514)
    Ig-like (580-664)
  • Interpro: IPR007110  IPR036179  IPR013783  IPR003599  IPR016201   IPR001627  IPR036352  IPR027231  IPR015943  
  • Prosite: PS50835 PS51004
  • DIP: 5744
  • STRING: ENSP00000265362
• Other Databases: GeneCards:  SEMA3A  Malacards:  SEMA3A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001755	neural crest cell migration	IBA	biological process
GO:0001764	neuron migration	ISS	biological process
GO:0002027	regulation of heart rate	IEA	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005615	extracellular space	IBA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0007411	axon guidance	TAS	biological process
GO:0007413	axonal fasciculation	IEA	biological process
GO:0010633	negative regulation of epithelial cell migration	IEA	biological process
GO:0021612	facial nerve structural organization	IEA	biological process
GO:0021637	trigeminal nerve structural organization	IEA	biological process
GO:0021675	nerve development	ISS	biological process
GO:0021772	olfactory bulb development	IMP	biological process
GO:0021785	branchiomotor neuron axon guidance	IEA	biological process
GO:0021828	gonadotrophin-releasing hormone neuronal migration to the hypothalamus	IEA	biological process
GO:0030215	semaphorin receptor binding	IBA	molecular function
GO:0030424	axon	IBA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0036486	ventral trunk neural crest cell migration	IEA	biological process
GO:0038191	neuropilin binding	ISS	molecular function
GO:0038191	neuropilin binding	IBA	molecular function
GO:0045499	chemorepellent activity	TAS	molecular function
GO:0048485	sympathetic nervous system development	TAS	biological process
GO:0048813	dendrite morphogenesis	IEA	biological process
GO:0048841	regulation of axon extension involved in axon guidance	IDA	biological process
GO:0048843	negative regulation of axon extension involved in axon guidance	IBA	biological process
GO:0048846	axon extension involved in axon guidance	ISS	biological process
GO:0048880	sensory system development	TAS	biological process
GO:0050919	negative chemotaxis	IEA	biological process
GO:0060385	axonogenesis involved in innervation	ISS	biological process
GO:0060666	dichotomous subdivision of terminal units involved in salivary gland branching	IEA	biological process
GO:0061549	sympathetic ganglion development	ISS	biological process
GO:0061551	trigeminal ganglion development	IEA	biological process
GO:0071526	semaphorin-plexin signaling pathway	TAS	biological process
GO:0097490	sympathetic neuron projection extension	ISS	biological process
GO:0097491	sympathetic neuron projection guidance	ISS	biological process
GO:1901166	neural crest cell migration involved in autonomic nervous system development	ISS	biological process
GO:1902285	semaphorin-plexin signaling pathway involved in neuron projection guidance	ISS	biological process
GO:1902287	semaphorin-plexin signaling pathway involved in axon guidance	IEA	biological process
GO:1903045	neural crest cell migration involved in sympathetic nervous system development	IEA	biological process
GO:1903375	facioacoustic ganglion development	IEA	biological process
GO:2000020	positive regulation of male gonad development	IEA	biological process
GO:2001224	positive regulation of neuron migration	IBA	biological process
GO:0001755	neural crest cell migration	IBA	biological process
GO:0001764	neuron migration	IEA	biological process
GO:0001764	neuron migration	ISS	biological process
GO:0002027	regulation of heart rate	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005615	extracellular space	IBA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0007399	nervous system development	IEA	biological process
GO:0007411	axon guidance	IEA	biological process
GO:0007411	axon guidance	TAS	biological process
GO:0007413	axonal fasciculation	IEA	biological process
GO:0008045	motor neuron axon guidance	IEA	biological process
GO:0010633	negative regulation of epithelial cell migration	IEA	biological process
GO:0021612	facial nerve structural organization	IEA	biological process
GO:0021637	trigeminal nerve structural organization	IEA	biological process
GO:0021675	nerve development	IEA	biological process
GO:0021675	nerve development	ISS	biological process
GO:0021772	olfactory bulb development	IMP	biological process
GO:0021785	branchiomotor neuron axon guidance	IEA	biological process
GO:0021828	gonadotrophin-releasing hormone neuronal migration to the hypothalamus	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0030215	semaphorin receptor binding	IEA	molecular function
GO:0030215	semaphorin receptor binding	IBA	molecular function
GO:0030424	axon	IEA	cellular component
GO:0030424	axon	IBA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0030517	negative regulation of axon extension	IEA	biological process
GO:0036486	ventral trunk neural crest cell migration	IEA	biological process
GO:0038191	neuropilin binding	IEA	molecular function
GO:0038191	neuropilin binding	ISS	molecular function
GO:0038191	neuropilin binding	IBA	molecular function
GO:0045499	chemorepellent activity	IEA	molecular function
GO:0045499	chemorepellent activity	TAS	molecular function
GO:0048485	sympathetic nervous system development	TAS	biological process
GO:0048813	dendrite morphogenesis	IEA	biological process
GO:0048841	regulation of axon extension involved in axon guidance	IEA	biological process
GO:0048841	regulation of axon extension involved in axon guidance	IDA	biological process
GO:0048843	negative regulation of axon extension involved in axon guidance	IEA	biological process
GO:0048843	negative regulation of axon extension involved in axon guidance	IBA	biological process
GO:0048846	axon extension involved in axon guidance	IEA	biological process
GO:0048846	axon extension involved in axon guidance	ISS	biological process
GO:0048880	sensory system development	TAS	biological process
GO:0050919	negative chemotaxis	IEA	biological process
GO:0060385	axonogenesis involved in innervation	IEA	biological process
GO:0060385	axonogenesis involved in innervation	ISS	biological process
GO:0060666	dichotomous subdivision of terminal units involved in salivary gland branching	IEA	biological process
GO:0061549	sympathetic ganglion development	IEA	biological process
GO:0061549	sympathetic ganglion development	ISS	biological process
GO:0061551	trigeminal ganglion development	IEA	biological process
GO:0071526	semaphorin-plexin signaling pathway	IEA	biological process
GO:0071526	semaphorin-plexin signaling pathway	TAS	biological process
GO:0097490	sympathetic neuron projection extension	IEA	biological process
GO:0097490	sympathetic neuron projection extension	ISS	biological process
GO:0097491	sympathetic neuron projection guidance	IEA	biological process
GO:0097491	sympathetic neuron projection guidance	ISS	biological process
GO:1901166	neural crest cell migration involved in autonomic nervous system development	IEA	biological process
GO:1901166	neural crest cell migration involved in autonomic nervous system development	ISS	biological process
GO:1902285	semaphorin-plexin signaling pathway involved in neuron projection guidance	IEA	biological process
GO:1902285	semaphorin-plexin signaling pathway involved in neuron projection guidance	ISS	biological process
GO:1902287	semaphorin-plexin signaling pathway involved in axon guidance	IEA	biological process
GO:1903045	neural crest cell migration involved in sympathetic nervous system development	IEA	biological process
GO:1903375	facioacoustic ganglion development	IEA	biological process
GO:2000020	positive regulation of male gonad development	IEA	biological process
GO:2001224	positive regulation of neuron migration	IEA	biological process
GO:2001224	positive regulation of neuron migration	IBA	biological process
GO:0001755	neural crest cell migration	IBA	biological process
GO:0001764	neuron migration	ISS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005615	extracellular space	IBA	cellular component
GO:0007411	axon guidance	TAS	biological process
GO:0021675	nerve development	ISS	biological process
GO:0021772	olfactory bulb development	IMP	biological process
GO:0030215	semaphorin receptor binding	IBA	molecular function
GO:0030424	axon	IBA	cellular component
GO:0038191	neuropilin binding	ISS	molecular function
GO:0038191	neuropilin binding	IBA	molecular function
GO:0045499	chemorepellent activity	TAS	molecular function
GO:0048485	sympathetic nervous system development	TAS	biological process
GO:0048841	regulation of axon extension involved in axon guidance	IDA	biological process
GO:0048843	negative regulation of axon extension involved in axon guidance	IBA	biological process
GO:0048846	axon extension involved in axon guidance	ISS	biological process
GO:0048880	sensory system development	TAS	biological process
GO:0060385	axonogenesis involved in innervation	ISS	biological process
GO:0061549	sympathetic ganglion development	ISS	biological process
GO:0071526	semaphorin-plexin signaling pathway	TAS	biological process
GO:0097490	sympathetic neuron projection extension	ISS	biological process
GO:0097491	sympathetic neuron projection guidance	ISS	biological process
GO:1901166	neural crest cell migration involved in autonomic nervous system development	ISS	biological process
GO:1902285	semaphorin-plexin signaling pathway involved in neuron projection guidance	ISS	biological process
GO:2001224	positive regulation of neuron migration	IBA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04360	Axon guidance

Diseases

Associated diseases	References
Blood pressure	GAD: 17903302
Cardiovascular disease	GAD: 17903301
Prion Diseases	GAD: 22210626
Alzheimer's disease	GAD: 19957197
Attention deficit hyperactivity disorder (ADHD)	GAD: 21784300
Hypogonadotropic hypogonadism	MIK: 24522099
Endometriosis	INFBASE: 26720585
Congenital hypogonadotropic hypogonadism	MIK: 24522099
Congenital hypogonadotropic hypogonadism	MIK: 24522099
Spermatogenic defects	MIK: 31037746

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
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 (34 with Kallmann syndrome (KS; HH with hyposmia/anosmia) and 16 with normosmic HH (nHH))	Male infertility	SEMA3A SEMA7A
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R