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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	64218
Gene name	Semaphorin 4A
Gene symbol	SEMA4A
Synonyms (NCBI Gene)	CORD10RP35SEMABSEMB
Chromosome	1
Chromosome location	1q22
Summary	This gene encodes a member of the semaphorin family of soluble and transmembrane proteins. Semaphorins are involved in numerous functions, including axon guidance, morphogenesis, carcinogenesis, and immunomodulation. The encoded protein is a single-pass t

Show/Hide all (8)

SNP ID	Visualize variation	Clinical significance	Consequence
rs41265017	G>A	Pathogenic, benign, likely-benign	Coding sequence variant, missense variant
rs145993678	A>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant
rs149652495	T>C	Likely-pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs149711133	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, synonymous variant, 5 prime UTR variant, coding sequence variant
rs267607033	G>C	Pathogenic	Missense variant, coding sequence variant
rs267607034	T>G	Pathogenic	Missense variant, coding sequence variant
rs756475595	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1028250483	C>T	Likely-pathogenic	Coding sequence variant, missense variant

Show/Hide all (14)

miRTarBase ID	miRNA	Experiments	Reference
MIRT755953	hsa-miR-218-5p	Luciferase reporter assayqRT-PCRRNA-seq	38785931
MIRT1335038	hsa-miR-122	CLIP-seq
MIRT1335039	hsa-miR-3180-5p	CLIP-seq
MIRT1335040	hsa-miR-3622b-5p	CLIP-seq
MIRT1335041	hsa-miR-3659	CLIP-seq
MIRT1335042	hsa-miR-4433	CLIP-seq
MIRT1335043	hsa-miR-4653-3p	CLIP-seq
MIRT1335044	hsa-miR-665	CLIP-seq
MIRT1335045	hsa-miR-759	CLIP-seq
MIRT2323842	hsa-miR-1343	CLIP-seq
MIRT2323843	hsa-miR-3192	CLIP-seq
MIRT2323844	hsa-miR-4746-3p	CLIP-seq
MIRT2323845	hsa-miR-548u	CLIP-seq
MIRT2323846	hsa-miR-617	CLIP-seq

Show/Hide all (30)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001525	Process	Angiogenesis	IEA
GO:0001755	Process	Neural crest cell migration	IBA
GO:0002250	Process	Adaptive immune response	IEA
GO:0002292	Process	T cell differentiation involved in immune response	IEA
GO:0002376	Process	Immune system process	IEA
GO:0005515	Function	Protein binding	IPI	17318185
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0007399	Process	Nervous system development	IEA
GO:0007409	Process	Axonogenesis	IEA
GO:0007411	Process	Axon guidance	IBA
GO:0008360	Process	Regulation of cell shape	IEA
GO:0010594	Process	Regulation of endothelial cell migration	IEA
GO:0016020	Component	Membrane	IEA
GO:0016525	Process	Negative regulation of angiogenesis	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:0038191	Function	Neuropilin binding	IBA
GO:0045063	Process	T-helper 1 cell differentiation	IEA
GO:0045499	Function	Chemorepellent activity	IBA
GO:0050919	Process	Negative chemotaxis	IBA
GO:0071526	Process	Semaphorin-plexin signaling pathway	IBA
GO:0071526	Process	Semaphorin-plexin signaling pathway	IEA
GO:1904891	Process	Positive regulation of excitatory synapse assembly	IEA
GO:1904891	Process	Positive regulation of excitatory synapse assembly	ISS
GO:1905704	Process	Positive regulation of inhibitory synapse assembly	IEA
GO:1905704	Process	Positive regulation of inhibitory synapse assembly	ISS

MIM	HGNC	e!Ensembl
607292	10729	ENSG00000196189

Q9H3S1

Protein name

Semaphorin-4A (Semaphorin-B) (Sema B)

Protein function

Cell surface receptor for PLXNB1, PLXNB2, PLXNB3 and PLXND1 that plays an important role in cell-cell signaling (By similarity). Regulates glutamatergic and GABAergic synapse development (By similarity). Promotes the development of inhibitory sy

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01403	Sema	66 → 476	Sema domain	Family
PF01437	PSI	496 → 548	Plexin repeat	Family

Sequence

MALPALGLDPWSLLGLFLFQLLQLLLPTTTAGGGGQGPMPRVRYYAGDERRALSFFHQKG
LQDFDTLLLSGDGNTLYVGAREAILALDIQDPGVPRLKNMIPWPASDRKKSECAFKKKSN
ETQCFNFIRVLVSYNVTHLYTCGTFAFSPACTFIELQDSYLLPISEDKVMEGKGQSPFDP
AHKHTAVLVDGMLYSGTMNNFLGSEPILMRTLGSQPVLKTDNFLRWLHHDASFVAAIPST
QVVYFFFEETASEFDFFERLHTSRVARVCKNDVGGEKLLQKKWTTFLKAQLLCTQPGQLP
FNVIRHAVLLPADSPTAPHIYAVFTSQWQVGGTRSSAVCAFSLLDIERVFKGKYKELNKE
TSRWTTYRGPETNPRPGSCSVGPSSDKALTFMKDHFLMDEQVVGTPLLVKSGVEYTRLAV
ETAQGLDGHSHLVMYLGTTTGSLHKAVVSGDSSAHLVEEIQLFPDPEPVRNLQLAPTQGA
VFVGFSGGVWRVPRANCSVYESCVDCVLARDPHCAWDPESRTCCLLSAPNLNSWKQDMER
GNPEWACASGPMSRSLRPQSRPQIIKEVLAVPNSILELPCPHLSALASYYWSHGPAAVPE
ASSTVYNGSLLLIVQDGVGGLYQCWATENGFSYPVISYWVDSQDQTLALDPELAGIPREH
VKVPLTRVSGGAALAAQQSYWPHFVTVTVLFALVLSGALIILVASPLRALRARGKVQGCE
TLRPGEKAPLSREQHLQSPKECRTSASDVDADNNCLGTEVA

Sequence length

761

Interactions

View interactions

	KEGG		Reactome
	Axon guidance		Other semaphorin interactions

313

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cone-rod dystrophy 10	Pathogenic	rs267607034	RCV000003527
Helicoid peripapillary chorioretinal degeneration	Pathogenic	rs1249149946	RCV001199781
Retinal dystrophy	Likely pathogenic	rs2528301563	RCV003889623
Retinitis pigmentosa	Pathogenic	rs1653548589	RCV001199780
Retinitis pigmentosa 35	Pathogenic	rs267607034	RCV000003526

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Benign	rs144310352	RCV005914199
Colorectal cancer	Conflicting classifications of pathogenicity; Uncertain significance	rs146822426, rs559896573	RCV000417364 RCV000735958
Cone-rod dystrophy	Benign; Likely benign	rs199933282	RCV005625524
Cone-Rod Dystrophy, Recessive	Uncertain significance	rs768826705, rs75927380	RCV000283982 RCV000265075
Hepatocellular carcinoma	Benign; Likely benign	rs2075164	RCV005889769
Optic atrophy	Conflicting classifications of pathogenicity	rs146822426	RCV004815016
Polyp of colon	Uncertain significance	rs773687726	RCV000735959
Retinitis Pigmentosa, Recessive	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	rs201094714, rs41265017, rs2075164, rs149711133, rs12401573, rs373565051, rs577740555, rs56271605, rs562037528, rs151260330, rs144540956, rs772147085, rs772819214, rs199933282, rs886045368 View all (20 more)	RCV000339071 RCV000338889 RCV000275357 RCV000305936 RCV000271657 RCV000302172 RCV000262251 RCV000370666 RCV000331109 RCV000299558 RCV000311723 RCV000268481 RCV000378154 RCV000399874 RCV000322235 RCV000316223 RCV000295259 RCV000287890 RCV000305086 RCV000390167 RCV000385564 RCV000315222 RCV000280366 RCV000304839 RCV000263359 RCV000357563 RCV000348321 RCV000400151 RCV000363046 RCV000293634 RCV000402168 RCV000327816 RCV000342453 RCV000400190 RCV000346245 RCV000357509
Sarcoma	Benign; Likely benign	rs2075164	RCV005889770
SEMA4A-related disorder	Likely benign; Conflicting classifications of pathogenicity	rs761522614, rs377121800, rs777184442, rs757466000, rs202047148, rs141707567	RCV003971153 RCV003904055 RCV003957295 RCV003910760 RCV003970536 RCV003970508

Show/Hide Text Mining Associations (31)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	27484806
Amaurosis congenita of Leber type 1	Associate	16199541
Arthritis	Associate	26542940
Arthritis Rheumatoid	Stimulate	26303122
Arthritis Rheumatoid	Associate	26542940, 31876207, 32971928
Autoimmune Diseases	Associate	31876207, 32971928
Breast Neoplasms	Inhibit	28607365
Breast Neoplasms	Stimulate	30270262
Cerebral Small Vessel Diseases	Associate	31430377
Colitis Ulcerative	Inhibit	25978359
Color Vision Defects	Associate	28805479
Colorectal Neoplasms	Associate	25307848
Communicable Diseases	Associate	26303122
Cone Rod Dystrophies	Associate	16199541
Crohn Disease	Inhibit	25978359
Drug Related Side Effects and Adverse Reactions	Stimulate	29457657
HIV Seropositivity	Associate	29457657
Hypoxia	Associate	30270262
Hypoxia Brain	Stimulate	30270262
Inflammation	Associate	25978359
Inflammatory Bowel Diseases	Associate	25978359
Lung Neoplasms	Associate	37901456
Lupus Erythematosus Systemic	Associate	31876207
Multiple Sclerosis	Associate	29457657, 32971928
Neoplasms	Associate	30270262
Retinal Degeneration	Associate	16199541, 28805479
Retinal Diseases	Associate	16199541
Retinitis Pigmentosa	Associate	16199541, 28805479
Scleroderma Systemic	Associate	32971928
Squamous Cell Carcinoma of Head and Neck	Stimulate	34099645
Triple Negative Breast Neoplasms	Associate	28607365

SEMA4A (semaphorin 4A)