Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	54437
Gene name	Semaphorin 5B
Gene symbol	SEMA5B
Synonyms (NCBI Gene)	SEMAGSemG
Chromosome	3
Chromosome location	3q21.1
Summary	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

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miRTarBase ID	miRNA	Experiments
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
MIRT1335434	hsa-miR-4296	CLIP-seq
MIRT1335435	hsa-miR-4322	CLIP-seq
MIRT1335436	hsa-miR-4447	CLIP-seq
MIRT1335437	hsa-miR-4472	CLIP-seq
MIRT1335438	hsa-miR-4488	CLIP-seq
MIRT1335439	hsa-miR-4697-5p	CLIP-seq
MIRT1335440	hsa-miR-491-5p	CLIP-seq
MIRT1335441	hsa-miR-499a-5p	CLIP-seq
MIRT2459089	hsa-miR-1202	CLIP-seq
MIRT2459090	hsa-miR-3194-5p	CLIP-seq
MIRT2459091	hsa-miR-361-3p	CLIP-seq
MIRT2459092	hsa-miR-3679-3p	CLIP-seq
MIRT2459093	hsa-miR-3972	CLIP-seq

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GO ID	Ontology	Definition	Evidence
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
GO:0030154	Process	Cell differentiation	IEA
GO:0030215	Function	Semaphorin receptor binding	IBA
GO:0030215	Function	Semaphorin receptor binding	IEA
GO:0030335	Process	Positive regulation of cell migration	IBA
GO:0045499	Function	Chemorepellent activity	IBA
GO:0048675	Process	Axon extension	IBA
GO:0048675	Process	Axon extension	IEA
GO:0050908	Process	Detection of light stimulus involved in visual perception	IEA
GO:0050919	Process	Negative chemotaxis	IEA
GO:0071526	Process	Semaphorin-plexin signaling pathway	IBA
GO:0097485	Process	Neuron projection guidance	IEA
GO:1990138	Process	Neuron projection extension	IEA

MIM	HGNC	e!Ensembl
609298	10737	ENSG00000082684

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	857 → 907	Thrombospondin type 1 domain	Domain
PF00090	TSP_1	668 → 719	Thrombospondin type 1 domain	Domain
PF00090	TSP_1	914 → 966	Thrombospondin type 1 domain	Domain
PF00090	TSP_1	726 → 770	Thrombospondin type 1 domain	Domain
PF00090	TSP_1	969 → 1013	Thrombospondin type 1 domain	Domain

Sequence

MPCGFSPSPVAHHLVPGPPDTPAQQLRCGWTVGGWLLSLVRGLLPCLPPGARTAEGPIMV
LAGPLAVSLLLPSLTLLVSHLSSSQDVSSEPSSEQQLCALSKHPTVAFEDLQPWVSNFTY
PGARDFSQLALDPSGNQLIVGARNYLFRLSLANVSLLQATEWASSEDTRRSCQSKGKTEE
ECQNYVRVLIVAGRKVFMCGTNAFSPMCTSRQVGNLSRTIEKINGVARCPYDPRHNSTAV
ISSQGELYAATVIDFSGRDPAIYRSLGSGPPLRTAQYNSKWLNEPNFVAAYDIGLFAYFF
LRENAVEHDCGRTVYSRVARVCKNDVGGRFLLEDTWTTFMKARLNCSRPGEVPFYYNELQ
SAFHLPEQDLIYGVFTTNVNSIAASAVCAFNLSAISQAFNGPFRYQENPRAAWLPIANPI
PNFQCGTLPETGPNENLTERSLQDAQRLFLMSEAVQPVTPEPCVTQDSVRFSHLVVDLVQ
AKDTLYHVLYIGTESGTILKALSTASRSLHGCYLEELHVLPPGRREPLRSLRILHSARAL
FVGLRDGVLRVPLERCAAYRSQGACLGARDPYCGWDGKQQRCSTLEDSSNMSLWTQNITA
CPVRNVTRDGGFGPWSPWQPCEHLDGDNSGSCLCRARSCDSPRPRCGGLDCLGPAIHIAN
CSRNGAWTPWSSWALCSTSCGIGFQVRQRSCSNPAPRHGGRICVGKSREERFCNENTPCP
VPIFWASWGSWSKCSSNCGGGMQSRRRACENGNSCLGCGVEFKTCNPEGCPEVRRNTPWT
PWLPVNVTQGGARQEQRFRFTCRAPLADPHGLQFGRRRTETRTCPADGSGSCDTDALVEV
LLRSGSTSPHTVSGGWAAWGPWSSCSRDCELGFRVRKRTCTNPEPRNGGLPCVGDAAEYQ
DCNPQACPVRGAWSCWTSWSPCSASCGGGHYQRTRSCTSPAPSPGEDICLGLHTEEALCA
TQACPEGWSPWSEWSKCTDDGAQSRSRHCEELLPGSSACAGNSSQSRPCPYSEIPVILPA
SSMEEATDCAGFNLIHLVATGISCFLGSGLLTLAVYLSCQHCQRQSQESTLVHPATPNHL
HYKGGGTPKNEKYTPMEFKTLNKNNLIPDDRANFYPLQQTNVYTTTYYPSPLNKHSFRPE
ASPGQRCFPNS

Sequence length

1151

Interactions

View interactions

KEGG Pathway	Reactome Pathway
Axon guidance	Defective B3GALTL causes Peters-plus syndrome (PpS)
	O-glycosylation of TSR domain-containing proteins

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal. Show/Hide Unknown Diseases (11)
ALZHEIMER DISEASE	—	GWAS catalog	39998322	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	27790247	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANCER	—	GWAS catalog	27790247	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	27790247	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTAL ENAMEL HYPOPLASIA	—	GWAS catalog	35172313	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS	—	GWAS catalog	27790247	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL CANCER	—	GWAS catalog	21642993	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL CARCINOMA	—	GWAS catalog	21642993	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	GWAS catalog	27790247	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	GWAS catalog	27790247	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VESICOURETERAL REFLUX	—	GWAS catalog	33597122	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (14)
Atrial Fibrillation	Atrial Fibrillation	GWASCAT_DG	27790247		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	36354023	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carpal Tunnel Syndrome	Carpal Tunnel Syndrome	BEFREE	29424359		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	GWASCAT_DG	27790247		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	GWASCAT_DG	27790247		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	GWASCAT_DG	27790247		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	GWASCAT_DG	27790247		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	36339449	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	GWASCAT_DG	21642993		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	GWASCAT_DG	27790247		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	GWASDB_DG	21642993		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	GWASCAT_DG	27790247		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thromboangiitis Obliterans	Thromboangiitis obliterans	Pubtator	26829209	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

SEMA5B (semaphorin 5B)

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