• Gene id: 57556

Gene Summary

• Gene Symbol: SEMA6A   Gene   UCSC   Ensembl
• Aliases: HT018, SEMA, SEMA6A1, SEMAQ, VIA
• Gene name: semaphorin 6A
• Alternate names: semaphorin-6A, SEMA6A-1, sema VIa, sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A, semaphorin 6A-1, semaphorin VIA,
• Gene location: 5q23.1 (116574822: 116443554)     Exons: 23     NC_000005.10
• Gene summary(Entrez): The transmembrane semaphorin SEMA6A is expressed in developing neural tissue and is required for proper development of the thalamocortical projection (Leighton et al., 2001 [PubMed 11242070]).[supplied by OMIM, Feb 2011]
• OMIM: 605885

Protein Summary

• Protein general information: Q9H2E6  
  • Name: Semaphorin 6A (Semaphorin VIA) (Sema VIA) (Semaphorin 6A 1) (SEMA6A 1)
  • Length: 1030  
  • Mass: 114395
• Sequence:

  MRSEALLLYFTLLHFAGAGFPEDSEPISISHGNYTKQYPVFVGHKPGRNTTQRHRLDIQMIMIMNGTLYIAARDH
  IYTVDIDTSHTEEIYCSKKLTWKSRQADVDTCRMKGKHKDECHNFIKVLLKKNDDALFVCGTNAFNPSCRNYKMD
  TLEPFGDEFSGMARCPYDAKHANVALFADGKLYSATVTDFLAIDAVIYRSLGESPTLRTVKHDSKWLKEPYFVQA
  VDYGDYIYFFFREIAVEYNTMGKVVFPRVAQVCKNDMGGSQRVLEKQWTSFLKARLNCSVPGDSHFYFNILQAVT
  DVIRINGRDVVLATFSTPYNSIPGSAVCAYDMLDIASVFTGRFKEQKSPDSTWTPVPDERVPKPRPGCCAGSSSL
  ERYATSNEFPDDTLNFIKTHPLMDEAVPSIFNRPWFLRTMVRYRLTKIAVDTAAGPYQNHTVVFLGSEKGIILKF
  LARIGNSGFLNDSLFLEEMSVYNSEKCSYDGVEDKRIMGMQLDRASSSLYVAFSTCVIKVPLGRCERYGKCKKTC
  IASRDPYCGWIKEGGACSHLSPNSRLTFEQDIERGNTDGLGDCHNSFVALNGHSSSLLPSTTTSDSTAQEGYESR
  GGMLDWKHLLDSPDSTDPLGAVSSHNHQDKKGVIRESYLKGHDQLVPVTLLAIAVILAFVMGAVFSGITVYCVCD
  HRRKDVAVVQRKEKELTHSRRGSMSSVTKLSGLFGDTQSKDPKPEAILTPLMHNGKLATPGNTAKMLIKADQHHL
  DLTALPTPESTPTLQQKRKPSRGSREWERNQNLINACTKDMPPMGSPVIPTDLPLRASPSHIPSVVVLPITQQGY
  QHEYVDQPKMSEVAQMALEDQAATLEYKTIKEHLSSKSPNHGVNLVENLDSLPPKVPQREASLGPPGASLSQTGL
  SKRLEMHHSSSYGVDYKRSYPTNSLTRSHQATTLKRNNTNSSNSSHLSRNQSFGRGDNPPPAPQRVDSIQVHSSQ
  PSGQAVTVSRQPSLNAYNSLTRSGLKRTPSLKPDVPPKPSFAPLSTSMKPNDACT

• Structural information:
  • Protein Domains: (24..51-)
    (/note="Sema-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00352"-)
  • Interpro: IPR002165  IPR016201  IPR001627  IPR036352  IPR027231   IPR015943  
  • Prosite: PS51004
  • STRING: ENSP00000257414
• Other Databases: GeneCards:  SEMA6A  Malacards:  SEMA6A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001755	neural crest cell migration	IBA	biological process
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0007411	axon guidance	IBA	biological process
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:2001224	positive regulation of neuron migration	IBA	biological process
GO:0005615	extracellular space	IBA	cellular component
GO:0030215	semaphorin receptor binding	IBA	molecular function
GO:0030335	positive regulation of cell migration	IBA	biological process
GO:0045499	chemorepellent activity	IBA	molecular function
GO:0030215	semaphorin receptor binding	IEA	molecular function
GO:0030154	cell differentiation	IEA	biological process
GO:0007399	nervous system development	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0035924	cellular response to vascular endothelial growth factor stimulus	IDA	biological process
GO:0070373	negative regulation of ERK1 and ERK2 cascade	IDA	biological process
GO:1900747	negative regulation of vascular endothelial growth factor signaling pathway	IDA	biological process
GO:1903671	negative regulation of sprouting angiogenesis	IDA	biological process
GO:0016525	negative regulation of angiogenesis	IGI	biological process
GO:0106089	negative regulation of cell adhesion involved in sprouting angiogenesis	IGI	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0007411	axon guidance	NAS	biological process
GO:0007399	nervous system development	NAS	biological process
GO:0007166	cell surface receptor signaling pathway	NAS	biological process
GO:0009887	animal organ morphogenesis	NAS	biological process
GO:0007010	cytoskeleton organization	NAS	biological process
GO:0016021	integral component of membrane	NAS	cellular component
GO:0006915	apoptotic process	NAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0030424	axon	NAS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04360	Axon guidance

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881