PLXNC1 (plexin C1)

Gene

• Entrez ID: 10154
• Gene name: Plexin C1
• Gene symbol: PLXNC1
• Synonyms (NCBI Gene): CD232, PLXN-C1, VESPR
• Chromosome: 12
• Chromosome location: 12q22
• Summary: This gene encodes a member of the plexin family. Plexins are transmembrane receptors for semaphorins, a large family of proteins that regulate axon guidance, cell motility and migration, and the immune response. The encoded protein and its ligand regulate

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016344	hsa-miR-193b-3p	Microarray	20304954
MIRT017321	hsa-miR-335-5p	Microarray	18185580
MIRT029051	hsa-miR-26b-5p	Microarray	19088304
MIRT622677	hsa-miR-299-5p	HITS-CLIP	23824327
MIRT622676	hsa-miR-8485	HITS-CLIP	23824327
MIRT622675	hsa-miR-603	HITS-CLIP	23824327
MIRT622674	hsa-miR-105-5p	HITS-CLIP	23824327
MIRT622673	hsa-miR-7853-5p	HITS-CLIP	23824327
MIRT622672	hsa-miR-4719	HITS-CLIP	23824327
MIRT136439	hsa-miR-19a-3p	HITS-CLIP	22473208
MIRT136440	hsa-miR-19b-3p	HITS-CLIP	22473208
MIRT622677	hsa-miR-299-5p	HITS-CLIP	23824327
MIRT622676	hsa-miR-8485	HITS-CLIP	23824327
MIRT622675	hsa-miR-603	HITS-CLIP	23824327
MIRT622674	hsa-miR-105-5p	HITS-CLIP	23824327
MIRT622673	hsa-miR-7853-5p	HITS-CLIP	23824327
MIRT622672	hsa-miR-4719	HITS-CLIP	23824327
MIRT1243915	hsa-let-7a	CLIP-seq
MIRT1243916	hsa-let-7b	CLIP-seq
MIRT1243917	hsa-let-7c	CLIP-seq
MIRT1243918	hsa-let-7d	CLIP-seq
MIRT1243919	hsa-let-7e	CLIP-seq
MIRT1243920	hsa-let-7f	CLIP-seq
MIRT1243921	hsa-let-7g	CLIP-seq
MIRT1243922	hsa-let-7i	CLIP-seq
MIRT1243923	hsa-miR-1294	CLIP-seq
MIRT1243924	hsa-miR-202	CLIP-seq
MIRT1243925	hsa-miR-21	CLIP-seq
MIRT1243926	hsa-miR-371b-3p	CLIP-seq
MIRT1243927	hsa-miR-4276	CLIP-seq
MIRT1243928	hsa-miR-4458	CLIP-seq
MIRT1243929	hsa-miR-4500	CLIP-seq
MIRT1243930	hsa-miR-4796-3p	CLIP-seq
MIRT1243931	hsa-miR-485-3p	CLIP-seq
MIRT1243932	hsa-miR-520g	CLIP-seq
MIRT1243933	hsa-miR-520h	CLIP-seq
MIRT1243934	hsa-miR-590-5p	CLIP-seq
MIRT1243935	hsa-miR-656	CLIP-seq
MIRT1243936	hsa-miR-98	CLIP-seq
MIRT2072081	hsa-miR-374c	CLIP-seq
MIRT2072082	hsa-miR-605	CLIP-seq
MIRT2072083	hsa-miR-655	CLIP-seq
MIRT2072084	hsa-miR-659	CLIP-seq
MIRT2299132	hsa-miR-15a	CLIP-seq
MIRT2299133	hsa-miR-15b	CLIP-seq
MIRT2299134	hsa-miR-16	CLIP-seq
MIRT2299135	hsa-miR-195	CLIP-seq
MIRT2299136	hsa-miR-424	CLIP-seq
MIRT2299137	hsa-miR-4468	CLIP-seq
MIRT2299138	hsa-miR-497	CLIP-seq
MIRT2299139	hsa-miR-545	CLIP-seq
MIRT2299140	hsa-miR-548p	CLIP-seq
MIRT2392725	hsa-miR-3065-5p	CLIP-seq
MIRT2392726	hsa-miR-409-3p	CLIP-seq
MIRT2392727	hsa-miR-421	CLIP-seq
MIRT2392728	hsa-miR-4684-3p	CLIP-seq
MIRT2432204	hsa-miR-3121-5p	CLIP-seq
MIRT2432205	hsa-miR-501-5p	CLIP-seq
MIRT1243915	hsa-let-7a	CLIP-seq
MIRT1243916	hsa-let-7b	CLIP-seq
MIRT1243917	hsa-let-7c	CLIP-seq
MIRT1243918	hsa-let-7d	CLIP-seq
MIRT1243919	hsa-let-7e	CLIP-seq
MIRT1243920	hsa-let-7f	CLIP-seq
MIRT1243921	hsa-let-7g	CLIP-seq
MIRT1243922	hsa-let-7i	CLIP-seq
MIRT1243923	hsa-miR-1294	CLIP-seq
MIRT2596004	hsa-miR-193a-3p	CLIP-seq
MIRT2596005	hsa-miR-193b	CLIP-seq
MIRT1243924	hsa-miR-202	CLIP-seq
MIRT1243925	hsa-miR-21	CLIP-seq
MIRT2596006	hsa-miR-2114	CLIP-seq
MIRT2596007	hsa-miR-221	CLIP-seq
MIRT2596008	hsa-miR-222	CLIP-seq
MIRT2596009	hsa-miR-3064-3p	CLIP-seq
MIRT2596010	hsa-miR-30a	CLIP-seq
MIRT2596011	hsa-miR-30b	CLIP-seq
MIRT2596012	hsa-miR-30c	CLIP-seq
MIRT2596013	hsa-miR-30d	CLIP-seq
MIRT2596014	hsa-miR-30e	CLIP-seq
MIRT2596015	hsa-miR-3176	CLIP-seq
MIRT2596016	hsa-miR-323-3p	CLIP-seq
MIRT2596017	hsa-miR-335	CLIP-seq
MIRT2596018	hsa-miR-3606	CLIP-seq
MIRT2596019	hsa-miR-3607-3p	CLIP-seq
MIRT2596020	hsa-miR-3686	CLIP-seq
MIRT2596021	hsa-miR-3922-3p	CLIP-seq
MIRT1243927	hsa-miR-4276	CLIP-seq
MIRT2596022	hsa-miR-4292	CLIP-seq
MIRT2596023	hsa-miR-4308	CLIP-seq
MIRT2596024	hsa-miR-4312	CLIP-seq
MIRT1243928	hsa-miR-4458	CLIP-seq
MIRT1243929	hsa-miR-4500	CLIP-seq
MIRT2596025	hsa-miR-4790-5p	CLIP-seq
MIRT1243931	hsa-miR-485-3p	CLIP-seq
MIRT1243934	hsa-miR-590-5p	CLIP-seq
MIRT2596026	hsa-miR-630	CLIP-seq
MIRT2596027	hsa-miR-643	CLIP-seq
MIRT2596028	hsa-miR-7	CLIP-seq
MIRT2596029	hsa-miR-892b	CLIP-seq
MIRT2596030	hsa-miR-921	CLIP-seq
MIRT1243936	hsa-miR-98	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002116	Component	Semaphorin receptor complex	IBA
GO:0005102	Function	Signaling receptor binding	TAS	9586637
GO:0005515	Function	Protein binding	IPI	20727575
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	NAS	9586637
GO:0005886	Component	Plasma membrane	TAS
GO:0007155	Process	Cell adhesion	TAS	9586637
GO:0007162	Process	Negative regulation of cell adhesion	IBA
GO:0007416	Process	Synapse assembly	IBA
GO:0008360	Process	Regulation of cell shape	IBA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0017154	Function	Semaphorin receptor activity	IBA
GO:0017154	Function	Semaphorin receptor activity	IEA
GO:0030334	Process	Regulation of cell migration	IBA
GO:0050772	Process	Positive regulation of axonogenesis	IBA
GO:0071526	Process	Semaphorin-plexin signaling pathway	IBA
GO:0071526	Process	Semaphorin-plexin signaling pathway	IEA
GO:0150053	Component	Cerebellar climbing fiber to Purkinje cell synapse	IEA
GO:1905806	Process	Regulation of synapse pruning	IEA

Other IDs

• MIM: 604259
• HGNC: 9106
• e!Ensembl: ENSG00000136040

Protein

• UniProt ID: O60486
• Protein name: Plexin-C1 (Virus-encoded semaphorin protein receptor) (CD antigen CD232)
• Protein function: Receptor for SEMA7A, for smallpox semaphorin A39R, vaccinia virus semaphorin A39R and for herpesvirus Sema protein. Binding of semaphorins triggers cellular responses leading to the rearrangement of the cytoskeleton and to secretion of IL6 and I
• PDB: 3KUZ, 3NVN, 3NVQ, 6VXK
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01437	PSI	454 → 507	Plexin repeat	Family
  PF01833	TIG	663 → 750	IPT/TIG domain	Domain
  PF01833	TIG	754 → 840	IPT/TIG domain	Domain
  PF08337	Plexin_cytopl	1012 → 1535	Plexin cytoplasmic RasGAP domain	Family

• Tissue specificity: TISSUE SPECIFICITY: Detected in heart, brain, lung, spleen and placenta. {ECO:0000269|PubMed:9586637}.
• Sequence:

  MEVSRRKAPPRPPRPAAPLPLLAYLLALAAPGRGADEPVWRSEQAIGAIAASQEDGVFVA
  SGSCLDQLDYSLEHSLSRLYRDQAGNCTEPVSLAPPARPRPGSSFSKLLLPYREGAAGLG
  GLLLTGWTFDRGACEVRPLGNLSRNSLRNGTEVVSCHPQGSTAGVVYRAGRNNRWYLAVA
  ATYVLPEPETASRCNPAASDHDTAIALKDTEGRSLATQELGRLKLCEGAGSLHFVDAFLW
  NGSIYFPYYPYNYTSGAATGWPSMARIAQSTEVLFQGQASLDCGHGHPDGRRLLLSSSLV
  EALDVWAGVFSAAAGEGQERRSPTTTALCLFRMSEIQARAKRVSWDFKTAESHCKEGDQP
  ERVQPIASSTLIHSDLTSVYGTVVMNRTVLFLGTGDGQLLKVILGENLTSNCPEVIYEIK
  EETPVFYKLVPDPVKNIYIYLTAGKEVRRIRVANCNKHKSCSECLTATDPHCGWCHSLQR
  CTFQGDCVHSENLENWLDISSGAKKCPKIQIIRSSKEKTTVTMVGSFSPRHSKCMVKNVD
  SSRELCQNKSQPNRTCTCSIPTRATYKDVSVVNVMFSFGSWNLSDRFNFTNCSSLKECPA
  CVETGCAWCKSARRCIHPFTACDPSDYERNQEQCPVAVEKTSGGGRPKENKGNRTNQALQ
  VFYIKSIEPQKVSTLGKSNVIVTGANFTRASNITMILKGTSTCDKDVIQVSHVLNDTHMK
  FSLPSSRKEMKDVCIQFDGGNCSSVGSLSYIALPHCSLIFPATTWISGGQNITMMGRNFD
  VIDNLIISHELKGNINVSEYCVATYCGFLAPSLKSSKVRTNVTVKLRVQDTYLDCGTLQY
  REDPRFTGYRVESEVDTELEVKIQKENDNFNISKKDIEITLFHGENGQLNCSFENITRNQ
  DLTTILCKIKGIKTASTIANSSKKVRVKLGNLELYVEQESVPSTWYFLIVLPVLLVIVIF
  AAVGVTRHKSKELSRKQSQQLELLESELRKEIRDGFAELQMDKLDVVDSFGTVPFLDYKH
  FALRTFFPESGGFTHIFTEDMHNRDANDKNESLTALDALICNKSFLVTVIHTLEKQKNFS
  VKDRCLFASFLTIALQTKLVYLTSILEVLTRDLMEQCSNMQPKLMLRRTESVVEKLLTNW
  MSVCLSGFLRETVGEPFYLLVTTLNQKINKGPVDVITCKALYTLNEDWLLWQVPEFSTVA
  LNVVFEKIPENESADVCRNISVNVLDCDTIGQAKEKIFQAFLSKNGSPYGLQLNEIGLEL
  QMGTRQKELLDIDSSSVILEDGITKLNTIGHYEISNGSTIKVFKKIANFTSDVEYSDDHC
  HLILPDSEAFQDVQGKRHRGKHKFKVKEMYLTKLLSTKVAIHSVLEKLFRSIWSLPNSRA
  PFAIKYFFDFLDAQAENKKITDPDVVHIWKTNSLPLRFWVNILKNPQFVFDIKKTPHIDG
  CLSVIAQAFMDAFSLTEQQLGKEAPTNKLLYAKDIPTYKEEVKSYYKAIRDLPPLSSSEM
  EEFLTQESKKHENEFNEEVALTEIYKYIVKYFDEILNKLERERGLEEAQKQLLHVKVLFD
  EKKKCKWM

• Sequence length: 1568

Pathways

KEGG:

Axon guidance

Reactome:

Other semaphorin interactions

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
Anophthalmia-microphthalmia syndrome	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASE	—	GWAS catalog	★★☆☆☆ 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
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONOTRUNCAL HEART MALFORMATIONS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEWY BODY DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1	Autoimmune Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2	Autoimmune Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	30327758	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	30327758	Stimulate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	39596507	Associate	★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Endometrioma	Endometrioma	CTD_human_DG	20864642		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	CTD_human_DG	20864642		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypothyroidism	Hypothyroidism	GWASCAT_DG	30595370		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	27609773		★☆☆☆☆ Found in Text Mining only
Lung Diseases, Interstitial	Lung Diseases	BEFREE	27609773		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	19462467, 30327758		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	17671519		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	18987670, 29514220		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	18987670	Inhibit	★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	18987670		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	18987670, 26370254		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	36419120	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	37853395	Associate	★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	31317324		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	27609773		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory Tract Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	31317324	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	25921176	Associate	★☆☆☆☆ Found in Text Mining only