Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	10501
Gene name	Semaphorin 6B
Gene symbol	SEMA6B
Synonyms (NCBI Gene)	EPM11SEM-SEMA-YSEM-SEMA-ZSEMA-VIBSEMANsemaZ
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

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

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

MIM	HGNC	e!Ensembl
608873	10739	ENSG00000167680

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

Interactions

View interactions

	KEGG
	Axon guidance

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)

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
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 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability	Likely pathogenic	rs1490417837	RCV002267124	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (18)

Phenotype Name	Clinical Significance	Source	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.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT NON-SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ 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, Disgenet	★★★★★ ★★☆☆☆ 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

Show/Hide Text Mining Associations (22)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
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

SEMA6B (semaphorin 6B)