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

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Epilepsy with myoclonic atonic seizures	Likely pathogenic	rs2145342338	RCV002266027
Epilepsy, progressive myoclonic, 11	Likely pathogenic; Pathogenic	rs2145347825, rs1418798663, rs2512183344, rs2512182831, rs1977106116, rs1977105425, rs1443687532	RCV002052231 RCV003128301 RCV003131419 RCV005254769 RCV001093611 RCV001093612 RCV001093613
Intellectual disability	Likely pathogenic	rs1490417837	RCV002267124
See cases	Pathogenic	rs747115338	RCV001810519

Show/Hide Unknown Diseases (12)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Colon adenocarcinoma	Uncertain significance	rs769299847	RCV005929508
Congenital cerebellar hypoplasia	Uncertain significance	rs1279041694	RCV001258007
Familial cancer of breast	Conflicting classifications of pathogenicity	rs142864702	RCV005933361
Gastric cancer	Conflicting classifications of pathogenicity	rs142864702	RCV005933364
Germ cell tumor of testis	Uncertain significance	rs769299847	RCV005929509
Grade I preterm intraventricular hemorrhage	Uncertain significance	rs1279041694	RCV000779641
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	rs142864702	RCV005933362
Isolated unilateral hemispheric cerebellar hypoplasia	Uncertain significance	rs1279041694	RCV000779641
Malignant tumor of esophagus	Conflicting classifications of pathogenicity	rs142864702	RCV005933363
Optic atrophy	Benign; Likely benign; Conflicting classifications of pathogenicity	rs564925636, rs540853448, rs142864702	RCV004818271 RCV004818273 RCV004818443
Retinal dystrophy	Benign; Likely benign; Conflicting classifications of pathogenicity	rs189240925, rs149379013, rs199618903, rs142864702, rs547783583, rs373521467	RCV004818254 RCV004818257 RCV004818275 RCV004818442 RCV004818453 RCV004818454
SEMA6B-related disorder	Benign; Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	rs2304213, rs1027914512, rs564925636, rs540853448, rs528232558, rs552864142, rs764521530, rs1478740739, rs139071474, rs145677334, rs148753710, rs2512189804, rs777541301, rs150994490, rs2512182634 View all (7 more)	RCV003980820 RCV003963746 RCV003918968 RCV003936664 RCV003918977 RCV003918978 RCV003420875 RCV003412210 RCV003919144 RCV003907310 RCV003919810 RCV003929823 RCV003909618 RCV003959579 RCV003951641 RCV003921961 RCV003954374 RCV003954599 RCV003935960 RCV003916085 RCV003978390 RCV003950742

Show/Hide Text Mining Associations (24)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acute On Chronic Liver Failure	Associate	39267780
Ataxia	Associate	34092044
Cardiovascular Diseases	Associate	32887275
Cognition Disorders	Associate	36719163
Developmental Disabilities	Associate	34092044, 36719163
Disease	Associate	38091987
Epilepsies Myoclonic	Associate	34092044, 36719163
Epilepsy	Associate	36719163
Hepatitis C Chronic	Stimulate	30592759
Hypertension Portal	Associate	34962102
Infantile Epileptic Dyskinetic Encephalopathy	Associate	36719163
Inflammation	Associate	39267780
Lymphatic Metastasis	Associate	23781008
Myoclonic Epilepsies Progressive	Associate	33798445, 36719163
Myoclonus	Associate	34092044, 36719163
Neoplasm Invasiveness	Associate	36604653
Neoplasm Metastasis	Associate	23781008
Neoplasms	Associate	23781008, 36761753, 37155149
Prickle1 Related Progressive Myoclonic Epilepsy with Ataxia	Associate	36719163
Seizures	Associate	36719163
Status Epilepticus	Associate	36719163
Stomach Neoplasms	Associate	23781008
Thyroid Neoplasms	Associate	33125690, 37854594
Thyroid Neoplasms	Stimulate	37155149

SEMA6B (semaphorin 6B)