Gene Gene information from NCBI Gene database.
Entrez ID 57556
Gene name Semaphorin 6A
Gene symbol SEMA6A
Synonyms (NCBI Gene)
HT018SEMASEMA6A1SEMAQVIA
Chromosome 5
Chromosome location 5q23.1
Summary 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]
miRNA miRNA information provided by mirtarbase database.
175
miRTarBase ID miRNA Experiments Reference
MIRT047836 hsa-miR-30c-5p CLASH 23622248
MIRT052939 hsa-miR-27a-3p Luciferase reporter assayqRT-PCRWestern blot 22184411
MIRT052940 hsa-miR-27b-3p ELISALuciferase reporter assayqRT-PCR 22184411
MIRT052939 hsa-miR-27a-3p Luciferase reporter assayqRT-PCRWestern blot 22184411
MIRT052940 hsa-miR-27b-3p Luciferase reporter assay 24177325
Transcription factors Transcription factors information provided by TRRUST V2 database.
3
Transcription factor Regulation Reference
NANOG Unknown 17671748
POU5F1 Unknown 17671748
SOX2 Unknown 17671748
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
GO ID Ontology Definition Evidence Reference
GO:0001755 Process Neural crest cell migration IBA
GO:0005515 Function Protein binding IPI 10993894, 32302524
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IEA
GO:0006915 Process Apoptotic process NAS 10993894
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605885 10738 ENSG00000092421
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H2E6
Protein name Semaphorin-6A (Semaphorin VIA) (Sema VIA) (Semaphorin-6A-1) (SEMA6A-1)
Protein function Cell surface receptor for PLXNA2 that plays an important role in cell-cell signaling. Required for normal granule cell migration in the developing cerebellum. Promotes reorganization of the actin cytoskeleton and plays an important role in axon
PDB 6WTS
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01403 Sema 61 480 Sema domain Family
PF01437 PSI 514 569 Plexin repeat Family
Sequence
MRSEALLLYFTLLHFAGAGFPEDSEPISISHGNYTKQYPVFVGHKPGRNTTQRHRLDIQM
IMIMNGTLYIAARDHIYTVDIDTSHTEEIYCSKKLTWKSRQADVDTCRMKGKHKDECHNF
IKVLLKKNDDALFVCGTNAFNPSCRNYKMDTLEPFGDEFSGMARCPYDAKHANVALFADG
KLYSATVTDFLAIDAVIYRSLGESPTLRTVKHDSKWLKEPYFVQAVDYGDYIYFFFREIA
VEYNTMGKVVFPRVAQVCKNDMGGSQRVLEKQWTSFLKARLNCSVPGDSHFYFNILQAVT
DVIRINGRDVVLATFSTPYNSIPGSAVCAYDMLDIASVFTGRFKEQKSPDSTWTPVPDER
VPKPRPGCCAGSSSLERYATSNEFPDDTLNFIKTHPLMDEAVPSIFNRPWFLRTMVRYRL
TKIAVDTAAGPYQNHTVVFLGSEKGIILKFLARIGNSGFLNDSLFLEEMSVYNSEKCSYD

GVEDKRIMGMQLDRASSSLYVAFSTCVIKVPLGRCERYGKCKKTCIASRDPYCGWIKEGG
ACSHLSPNSRLTFEQDIERGNTDGLGDCH
NSFVALNGHSSSLLPSTTTSDSTAQEGYESR
GGMLDWKHLLDSPDSTDPLGAVSSHNHQDKKGVIRESYLKGHDQLVPVTLLAIAVILAFV
MGAVFSGITVYCVCDHRRKDVAVVQRKEKELTHSRRGSMSSVTKLSGLFGDTQSKDPKPE
AILTPLMHNGKLATPGNTAKMLIKADQHHLDLTALPTPESTPTLQQKRKPSRGSREWERN
QNLINACTKDMPPMGSPVIPTDLPLRASPSHIPSVVVLPITQQGYQHEYVDQPKMSEVAQ
MALEDQAATLEYKTIKEHLSSKSPNHGVNLVENLDSLPPKVPQREASLGPPGASLSQTGL
SKRLEMHHSSSYGVDYKRSYPTNSLTRSHQATTLKRNNTNSSNSSHLSRNQSFGRGDNPP
PAPQRVDSIQVHSSQPSGQAVTVSRQPSLNAYNSLTRSGLKRTPSLKPDVPPKPSFAPLS
TSMKPNDACT
Sequence length 1030
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Axon guidance  
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Delayed puberty, self-limited Likely pathogenic rs2532375845 RCV003312987
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Carcinoma Hepatocellular Associate 40248062
Carcinoma Renal Cell Stimulate 36739418
Glioblastoma Associate 26014517
Glioma Associate 26223576
Granulomatosis with Polyangiitis Associate 23740775
Lung Neoplasms Inhibit 31527696
Melanoma Associate 35440004
Mucocutaneous Lymph Node Syndrome Associate 28886140
Neoplasms Associate 24553122, 26014517, 35440004, 36739418
Neoplasms Inhibit 31527696