SEMA6B (semaphorin 6B)

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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 10501
• Gene name: Semaphorin 6B
• Gene symbol: SEMA6B
• Synonyms (NCBI Gene): EPM11, SEM-SEMA-Y, SEM-SEMA-Z, SEMA-VIB, SEMAN, semaZ
• Chromosome: 19
• Chromosome location: 19p13.3
• Summary: This gene encodes a member of the semaphorin family, a group of proteins characterized by the presence of a conserved semaphorin (sema) domain. Whereas some semaphorins are transmembrane proteins, others are secreted. Semaphorins play a major role in axon

miRNA Show/Hide all (80)

miRTarBase ID	miRNA	Experiments	Reference
MIRT031258	hsa-miR-19b-3p	Sequencing	20371350
MIRT653983	hsa-miR-129-1-3p	HITS-CLIP	23824327
MIRT653982	hsa-miR-129-2-3p	HITS-CLIP	23824327
MIRT653981	hsa-miR-4524b-3p	HITS-CLIP	23824327
MIRT653980	hsa-miR-7702	HITS-CLIP	23824327
MIRT653983	hsa-miR-129-1-3p	HITS-CLIP	23824327
MIRT653982	hsa-miR-129-2-3p	HITS-CLIP	23824327
MIRT653981	hsa-miR-4524b-3p	HITS-CLIP	23824327
MIRT653980	hsa-miR-7702	HITS-CLIP	23824327
MIRT1335501	hsa-miR-1273g	CLIP-seq
MIRT1335502	hsa-miR-1275	CLIP-seq
MIRT1335503	hsa-miR-1280	CLIP-seq
MIRT1335504	hsa-miR-2355-5p	CLIP-seq
MIRT1335505	hsa-miR-296-5p	CLIP-seq
MIRT1335506	hsa-miR-30a	CLIP-seq
MIRT1335507	hsa-miR-30b	CLIP-seq
MIRT1335508	hsa-miR-30c	CLIP-seq
MIRT1335509	hsa-miR-30d	CLIP-seq
MIRT1335510	hsa-miR-30e	CLIP-seq
MIRT1335511	hsa-miR-3150a-3p	CLIP-seq
MIRT1335512	hsa-miR-3175	CLIP-seq
MIRT1335513	hsa-miR-3180-5p	CLIP-seq
MIRT1335514	hsa-miR-323b-5p	CLIP-seq
MIRT1335515	hsa-miR-3612	CLIP-seq
MIRT1335516	hsa-miR-3649	CLIP-seq
MIRT1335517	hsa-miR-4286	CLIP-seq
MIRT1335518	hsa-miR-4447	CLIP-seq
MIRT1335519	hsa-miR-4472	CLIP-seq
MIRT1335520	hsa-miR-4474-3p	CLIP-seq
MIRT1335521	hsa-miR-4492	CLIP-seq
MIRT1335522	hsa-miR-4498	CLIP-seq
MIRT1335523	hsa-miR-4505	CLIP-seq
MIRT1335524	hsa-miR-4525	CLIP-seq
MIRT1335525	hsa-miR-4651	CLIP-seq
MIRT1335526	hsa-miR-4665-5p	CLIP-seq
MIRT1335527	hsa-miR-4685-5p	CLIP-seq
MIRT1335528	hsa-miR-4723-5p	CLIP-seq
MIRT1335529	hsa-miR-4728-5p	CLIP-seq
MIRT1335530	hsa-miR-4730	CLIP-seq
MIRT1335531	hsa-miR-4731-5p	CLIP-seq
MIRT1335532	hsa-miR-4797-5p	CLIP-seq
MIRT1335533	hsa-miR-608	CLIP-seq
MIRT1335534	hsa-miR-625	CLIP-seq
MIRT1335535	hsa-miR-637	CLIP-seq
MIRT1335536	hsa-miR-650	CLIP-seq
MIRT1335537	hsa-miR-658	CLIP-seq
MIRT1335538	hsa-miR-762	CLIP-seq
MIRT1335539	hsa-miR-876-3p	CLIP-seq
MIRT1335540	hsa-miR-939	CLIP-seq
MIRT2099180	hsa-miR-1224-3p	CLIP-seq
MIRT2099181	hsa-miR-187	CLIP-seq
MIRT2099182	hsa-miR-1976	CLIP-seq
MIRT2099183	hsa-miR-4707-5p	CLIP-seq
MIRT2099184	hsa-miR-4722-3p	CLIP-seq
MIRT2323965	hsa-miR-3614-3p	CLIP-seq
MIRT2323966	hsa-miR-3616-3p	CLIP-seq
MIRT2323967	hsa-miR-4436b-3p	CLIP-seq
MIRT2323968	hsa-miR-4721	CLIP-seq
MIRT2323969	hsa-miR-564	CLIP-seq
MIRT2323970	hsa-miR-639	CLIP-seq
MIRT2099180	hsa-miR-1224-3p	CLIP-seq
MIRT1335502	hsa-miR-1275	CLIP-seq
MIRT2099181	hsa-miR-187	CLIP-seq
MIRT2099182	hsa-miR-1976	CLIP-seq
MIRT1335513	hsa-miR-3180-5p	CLIP-seq
MIRT1335518	hsa-miR-4447	CLIP-seq
MIRT1335519	hsa-miR-4472	CLIP-seq
MIRT1335524	hsa-miR-4525	CLIP-seq
MIRT1335525	hsa-miR-4651	CLIP-seq
MIRT1335526	hsa-miR-4665-5p	CLIP-seq
MIRT1335527	hsa-miR-4685-5p	CLIP-seq
MIRT2099183	hsa-miR-4707-5p	CLIP-seq
MIRT2323968	hsa-miR-4721	CLIP-seq
MIRT2099184	hsa-miR-4722-3p	CLIP-seq
MIRT1335528	hsa-miR-4723-5p	CLIP-seq
MIRT1335529	hsa-miR-4728-5p	CLIP-seq
MIRT2323969	hsa-miR-564	CLIP-seq
MIRT1335533	hsa-miR-608	CLIP-seq
MIRT1335534	hsa-miR-625	CLIP-seq
MIRT2459094	hsa-miR-2861	CLIP-seq

Gene ontology (GO) Show/Hide all (20)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001755	Process	Neural crest cell migration	IBA
GO:0005515	Function	Protein binding	IPI	32302524
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0007411	Process	Axon guidance	IBA
GO:0007411	Process	Axon guidance	IEA
GO:0007411	Process	Axon guidance	ISS
GO:0007417	Process	Central nervous system development	IEA
GO:0007417	Process	Central nervous system development	IMP	32169168
GO:0016020	Component	Membrane	IEA
GO:0021766	Process	Hippocampus development	IEA
GO:0021766	Process	Hippocampus development	ISS
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:0050919	Process	Negative chemotaxis	IEA
GO:0071526	Process	Semaphorin-plexin signaling pathway	IBA

Other IDs

• MIM: 608873
• HGNC: 10739
• e!Ensembl: ENSG00000167680

Protein

• UniProt ID: Q9H3T3
• Protein name: Semaphorin-6B (Semaphorin-Z) (Sema Z)
• Protein function: Functions as a cell surface repellent for mossy fibers of developing neurons in the hippocampus where it plays a role in axon guidance. May function through the PLXNA4 receptor expressed by mossy cell axons. ; FUNC
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01403	Sema	70 → 485	Sema domain	Family
  PF01437	PSI	525 → 578	Plexin repeat	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the brain in GABAergic neurons. {ECO:0000269|PubMed:32169168}.
• Sequence:

  MQTPRASPPRPALLLLLLLLGGAHGLFPEEPPPLSVAPRDYLNHYPVFVGSGPGRLTPAE
  GADDLNIQRVLRVNRTLFIGDRDNLYRVELEPPTSTELRYQRKLTWRSNPSDINVCRMKG
  KQEGECRNFVKVLLLRDESTLFVCGSNAFNPVCANYSIDTLQPVGDNISGMARCPYDPKH
  ANVALFSDGMLFTATVTDFLAIDAVIYRSLGDRPTLRTVKHDSKWFKEPYFVHAVEWGSH
  VYFFFREIAMEFNYLEKVVVSRVARVCKNDVGGSPRVLEKQWTSFLKARLNCSVPGDSHF
  YFNVLQAVTGVVSLGGRPVVLAVFSTPSNSIPGSAVCAFDLTQVAAVFEGRFREQKSPES
  IWTPVPEDQVPRPRPGCCAAPGMQYNASSALPDDILNFVKTHPLMDEAVPSLGHAPWILR
  TLMRHQLTRVAVDVGAGPWGNQTVVFLGSEAGTVLKFLVRPNASTSGTSGLSVFLEEFET
  YRPDRCGRPGGGETGQRLLSLELDAASGGLLAAFPRCVVRVPVARCQQYSGCMKNCIGSQ
  DPYCGWAPDGSCIFLSPGTRAAFEQDVSGASTSGLGDCTGLLRASLSEDRAGLVSVNLLV
  TSSVAAFVVGAVVSGFSVGWFVGLRERRELARRKDKEAILAHGAGEAVLSVSRLGERRAQ
  GPGGRGGGGGGGAGVPPEALLAPLMQNGWAKATLLQGGPHDLDSGLLPTPEQTPLPQKRL
  PTPHPHPHALGPRAWDHGHPLLPASASSSLLLLAPARAPEQPPAPGEPTPDGRLYAARPG
  RASHGDFPLTPHASPDRRRVVSAPTGPLDPASAADGLPRPWSPPPTGSLRRPLGPHAPPA
  ATLRRTHTFNSGEARPGDRHRGCHARPGTDLAHLLPYGGADRTAPPVP

• Sequence length: 888

Pathways

KEGG Pathway:

Axon guidance

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Epilepsy with myoclonic atonic seizures	Likely pathogenic	rs2145342338	RCV002266027	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy, progressive myoclonic, 11	Likely pathogenic; Pathogenic	rs2145347825, rs1418798663, rs2512183344, rs2512182831, rs1977106116, rs1977105425, rs1443687532	RCV002052231 RCV003128301 RCV003131419 RCV005254769 RCV001093611 RCV001093612 RCV001093613	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability	Likely pathogenic	rs1490417837	RCV002267124	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (18)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	39998322	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT NON-SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, Orphanet Disgenet, Orphanet	35604360	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	38538606	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	38538606	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBELLAR HYPOPLASIA/ATROPHY, EPILEPSY, AND GLOBAL DEVELOPMENTAL DELAY	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital cerebellar hypoplasia	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Germ cell tumor of testis	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Grade I preterm intraventricular hemorrhage	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Isolated unilateral hemispheric cerebellar hypoplasia	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic atrophy	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar Disgenet	—	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
progressive myoclonus epilepsy	—	ClinGen	32169168, 34017830, 34092044, 35573939, 35604360, 36719163, 36873942, 39419291, ClinGen report	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal dystrophy	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEMA6B-related disorder	Benign; Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (22)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Ataxia	Ataxia	Pubtator	34092044	Associate	★☆☆☆☆ Found in Text Mining only
Breast adenocarcinoma	Breast Adenocarcinoma	BEFREE	16525649		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	23665584		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular Diseases	Cardiovascular disease	Pubtator	32887275	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	36719163	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	34092044, 36719163	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsies Myoclonic	Myoclonic epilepsy	Pubtator	34092044, 36719163	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	36719163	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	11350127		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	11350127		★☆☆☆☆ Found in Text Mining only
Hepatitis C Chronic	Hepatitis c	Pubtator	30592759	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypertension Portal	Portal hypertension	Pubtator	34962102	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	23781008	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	23665584		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23665584		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21832283		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	29808722		★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	36719163	Associate	★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status epilepticus	Pubtator	36719163	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	23781008	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	33125690, 37854594	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	37155149	Stimulate	★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

KCNC1 2 shared diseasesProgressive myoclonic epilepsy, progressive myoclonus epilepsy 3 shared evidence sourcesDisgenet (Progressive myoclonic epilepsy), ClinGen (Progressive myoclonic epilepsy), ClinGen (progressive myoclonus epilepsy) Related via 2 shared diseases including Progressive myoclonic epilepsy, progressive myoclonus epilepsy — evidence mostly ClinGen. KCTD7 2 shared diseasesProgressive myoclonic epilepsy, progressive myoclonus epilepsy 3 shared evidence sourcesDisgenet (Progressive myoclonic epilepsy), ClinGen (Progressive myoclonic epilepsy), ClinGen (progressive myoclonus epilepsy) Related via 2 shared diseases including Progressive myoclonic epilepsy, progressive myoclonus epilepsy — evidence mostly ClinGen. SERPINI1 2 shared diseasesProgressive myoclonic epilepsy, progressive myoclonus epilepsy 2 shared evidence sourcesClinGen (Progressive myoclonic epilepsy), ClinGen (progressive myoclonus epilepsy) Related via 2 shared diseases including Progressive myoclonic epilepsy, progressive myoclonus epilepsy — evidence mostly ClinGen. SCARB2 2 shared diseasesProgressive myoclonic epilepsy, progressive myoclonus epilepsy 2 shared evidence sourcesClinGen (Progressive myoclonic epilepsy), ClinGen (progressive myoclonus epilepsy) Related via 2 shared diseases including Progressive myoclonic epilepsy, progressive myoclonus epilepsy — evidence mostly ClinGen. GOSR2 2 shared diseasesProgressive myoclonic epilepsy, progressive myoclonus epilepsy 3 shared evidence sourcesDisgenet (Progressive myoclonic epilepsy), ClinGen (Progressive myoclonic epilepsy), ClinGen (progressive myoclonus epilepsy) Related via 2 shared diseases including Progressive myoclonic epilepsy, progressive myoclonus epilepsy — evidence mostly ClinGen.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
KCNC1	2	["Progressive myoclonic epilepsy","progressive myoclonus epilepsy"]	0	[]	3	["Disgenet (Progressive myoclonic epilepsy)","ClinGen (Progressive myoclonic epilepsy)","ClinGen (progressive myoclonus epilepsy)"]
KCTD7	2	["Progressive myoclonic epilepsy","progressive myoclonus epilepsy"]	0	[]	3	["Disgenet (Progressive myoclonic epilepsy)","ClinGen (Progressive myoclonic epilepsy)","ClinGen (progressive myoclonus epilepsy)"]
SERPINI1	2	["Progressive myoclonic epilepsy","progressive myoclonus epilepsy"]	0	[]	2	["ClinGen (Progressive myoclonic epilepsy)","ClinGen (progressive myoclonus epilepsy)"]
SCARB2	2	["Progressive myoclonic epilepsy","progressive myoclonus epilepsy"]	0	[]	2	["ClinGen (Progressive myoclonic epilepsy)","ClinGen (progressive myoclonus epilepsy)"]
GOSR2	2	["Progressive myoclonic epilepsy","progressive myoclonus epilepsy"]	0	[]	3	["Disgenet (Progressive myoclonic epilepsy)","ClinGen (Progressive myoclonic epilepsy)","ClinGen (progressive myoclonus epilepsy)"]

Diseases Linked via Similar Genes

Hypertension Linked via 3 of 5 related genesSERPINI1, SCARB2, GOSR2 Neurodevelopmental disorder Linked via 1 of 5 related genesKCNC1 Non-specific syndromic intellectual disability Linked via 1 of 5 related genesKCNC1 complex neurodevelopmental disorder Linked via 1 of 5 related genesKCNC1 Neuronal ceroid lipofuscinosis Linked via 1 of 5 related genesKCTD7

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Hypertension	3	["SERPINI1","SCARB2","GOSR2"]
Neurodevelopmental disorder	1	["KCNC1"]
Non-specific syndromic intellectual disability	1	["KCNC1"]
complex neurodevelopmental disorder	1	["KCNC1"]
Neuronal ceroid lipofuscinosis	1	["KCTD7"]