SEMA5B (semaphorin 5B)

Gene

• Entrez ID: 54437
• Gene name: Semaphorin 5B
• Gene symbol: SEMA5B
• Synonyms (NCBI Gene): SEMAG, SemG
• 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

miRNA

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
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

Gene ontology (GO)

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
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

Other IDs

• MIM: 609298
• HGNC: 10737
• e!Ensembl: 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
  AKDTLYHVLYIGTESGTILKALSTASRSLHGCYLEELHVLPPGRREPLRSLRILHSARAL
  FVGLRDGVLRVPLERCAAYRSQGACLGARDPYCGWDGKQQRCSTLEDSSNMSLWTQNITA
  CPVRNVTRDGGFGPWSPWQPCEHLDGDNSGSCLCRARSCDSPRPRCGGLDCLGPAIHIAN
  CSRNGAWTPWSSWALCSTSCGIGFQVRQRSCSNPAPRHGGRICVGKSREERFCNENTPCP
  VPIFWASWGSWSKCSSNCGGGMQSRRRACENGNSCLGCGVEFKTCNPEGCPEVRRNTPWT
  PWLPVNVTQGGARQEQRFRFTCRAPLADPHGLQFGRRRTETRTCPADGSGSCDTDALVEV
  LLRSGSTSPHTVSGGWAAWGPWSSCSRDCELGFRVRKRTCTNPEPRNGGLPCVGDAAEYQ
  DCNPQACPVRGAWSCWTSWSPCSASCGGGHYQRTRSCTSPAPSPGEDICLGLHTEEALCA
  TQACPEGWSPWSEWSKCTDDGAQSRSRHCEELLPGSSACAGNSSQSRPCPYSEIPVILPA
  SSMEEATDCAGFNLIHLVATGISCFLGSGLLTLAVYLSCQHCQRQSQESTLVHPATPNHL
  HYKGGGTPKNEKYTPMEFKTLNKNNLIPDDRANFYPLQQTNVYTTTYYPSPLNKHSFRPE
  ASPGQRCFPNS

• Sequence length: 1151

Pathways

KEGG:

Axon guidance

Reactome:

Defective B3GALTL causes Peters-plus syndrome (PpS)
O-glycosylation of TSR domain-containing proteins

Associated diseases

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTAL ENAMEL HYPOPLASIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VESICOURETERAL REFLUX	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
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