Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
54437
Gene name Gene Name - the full gene name approved by the HGNC.
Semaphorin 5B
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SEMA5B
Synonyms (NCBI Gene) Gene synonyms aliases
SEMAG, SemG
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q21.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the semaphorin protein family which regulates axon growth during development of the nervous system. The encoded protein has a characteristic Sema domain near the N-terminus, through which semaphorins bind to plexin, and five
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT1335429 hsa-miR-2355-5p CLIP-seq
MIRT1335430 hsa-miR-3151 CLIP-seq
MIRT1335431 hsa-miR-3691-3p CLIP-seq
MIRT1335432 hsa-miR-382 CLIP-seq
MIRT1335433 hsa-miR-4265 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001755 Process Neural crest cell migration IBA
GO:0005886 Component Plasma membrane IBA
GO:0007399 Process Nervous system development IEA
GO:0007411 Process Axon guidance IBA
GO:0016020 Component Membrane IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
609298 10737 ENSG00000082684
Protein
UniProt ID Q9P283
Protein name Semaphorin-5B
Protein function May act as a positive axonal guidance cue.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01403 Sema 128 535 Sema domain Family
PF01437 PSI 555 602 Plexin repeat Family
PF00090 TSP_1 668 719 Thrombospondin type 1 domain Domain
PF00090 TSP_1 726 770 Thrombospondin type 1 domain Domain
PF00090 TSP_1 857 907 Thrombospondin type 1 domain Domain
PF00090 TSP_1 914 966 Thrombospondin type 1 domain Domain
PF00090 TSP_1 969 1013 Thrombospondin type 1 domain Domain
Sequence
MPCGFSPSPVAHHLVPGPPDTPAQQLRCGWTVGGWLLSLVRGLLPCLPPGARTAEGPIMV
LAGPLAVSLLLPSLTLLVSHLSSSQDVSSEPSSEQQLCALSKHPTVAFEDLQPWVSNFTY
PGARDFSQLALDPSGNQLIVGARNYLFRLSLANVSLLQATEWASSEDTRRSCQSKGKTEE
ECQNYVRVLIVAGRKVFMCGTNAFSPMCTSRQVGNLSRTIEKINGVARCPYDPRHNSTAV
ISSQGELYAATVIDFSGRDPAIYRSLGSGPPLRTAQYNSKWLNEPNFVAAYDIGLFAYFF
LRENAVEHDCGRTVYSRVARVCKNDVGGRFLLEDTWTTFMKARLNCSRPGEVPFYYNELQ
SAFHLPEQDLIYGVFTTNVNSIAASAVCAFNLSAISQAFNGPFRYQENPRAAWLPIANPI
PNFQCGTLPETGPNENLTERSLQDAQRLFLMSEAVQPVTPEPCVTQDSVRFSHLVVDLVQ
AKDTLYHVLYIGTESGTILKALSTASRSLHGCYLEELHVLPPGRREPLRSLRILH
SARAL
FVGLRDGVLRVPLERCAAYRSQGACLGARDPYCGWDGKQQRCSTLEDSSNMSLWTQNITA
CP
VRNVTRDGGFGPWSPWQPCEHLDGDNSGSCLCRARSCDSPRPRCGGLDCLGPAIHIAN
CSRNGAWTPWSSWALCSTSCGIGFQVRQRSCSNPAPRHGGRICVGKSREERFCNENTPCP
VPIFWASWGSWSKCSSNCGGGMQSRRRACENGNSCLGCGVEFKTCNPEGCPEVRRNTPWT
PWLPVNVTQGGARQEQRFRFTCRAPLADPHGLQFGRRRTETRTCPADGSGSCDTDALVEV
LLRSGSTSPHTVSGGWAAWGPWSSCSRDCELGFRVRKRTCTNPEPRNGGLPCVGDAAEYQ
DCNPQAC
PVRGAWSCWTSWSPCSASCGGGHYQRTRSCTSPAPSPGEDICLGLHTEEALCA
TQACPE
GWSPWSEWSKCTDDGAQSRSRHCEELLPGSSACAGNSSQSRPCPYSEIPVILPA
SSMEEATDCAGFNLIHLVATGISCFLGSGLLTLAVYLSCQHCQRQSQESTLVHPATPNHL
HYKGGGTPKNEKYTPMEFKTLNKNNLIPDDRANFYPLQQTNVYTTTYYPSPLNKHSFRPE
ASPGQRCFPNS
Sequence length 1151
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Axon guidance   Defective B3GALTL causes Peters-plus syndrome (PpS)
O-glycosylation of TSR domain-containing proteins
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Burkitt Lymphoma Associate 36354023
Diabetes Mellitus Type 2 Associate 36339449
Thromboangiitis Obliterans Associate 26829209