Gene Gene information from NCBI Gene database.
Entrez ID 9369
Gene name Neurexin 3
Gene symbol NRXN3
Synonyms (NCBI Gene)
C14orf60
Chromosome 14
Chromosome location 14q24.3-q31.1
Summary This gene encodes a member of a family of proteins that function in the nervous system as receptors and cell adhesion molecules. Extensive alternative splicing and the use of alternative promoters results in multiple transcript variants and protein isofor
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs531047390 A>G Pathogenic Genic upstream transcript variant, intron variant
rs768341004 G>A,C Likely-pathogenic Downstream transcript variant, genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
329
miRTarBase ID miRNA Experiments Reference
MIRT016059 hsa-miR-374b-5p Sequencing 20371350
MIRT049473 hsa-miR-92a-3p CLASH 23622248
MIRT682431 hsa-miR-1910-3p HITS-CLIP 23706177
MIRT682430 hsa-miR-6511a-5p HITS-CLIP 23706177
MIRT682429 hsa-miR-4257 HITS-CLIP 23706177
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
30
GO ID Ontology Definition Evidence Reference
GO:0001525 Process Angiogenesis IEA
GO:0001525 Process Angiogenesis ISS
GO:0004888 Function Transmembrane signaling receptor activity NAS 18923512
GO:0005515 Function Protein binding IPI 32296183
GO:0005886 Component Plasma membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600567 8010 ENSG00000021645
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9HDB5
Protein name Neurexin-3-beta (Neurexin III-beta) [Cleaved into: Neurexin-3-beta, soluble form; Neurexin-3-beta, C-terminal fragment (NRXN3-CTF)]
Protein function Neuronal cell surface protein that may be involved in cell recognition and cell adhesion. May mediate intracellular signaling (By similarity). Functions as part of a trans-synaptic complex by binding to cerebellins and postsynaptic GRID1. This i
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02210 Laminin_G_2 117 236 Laminin G domain Domain
PF01034 Syndecan 554 634 Syndecan domain Family
Tissue specificity TISSUE SPECIFICITY: Expressed in the blood vessel walls (at protein level). {ECO:0000269|PubMed:19926856}.
Sequence
MHLRIHARRSPPRRPAWTLGIWFLFWGCIVSSVWSSSNVASSSSTSSSPGSHSQHEHHFH
GSKHHSVPISIYRSPVSLRGGHAGATYIFGKSGGLILYTWPANDRPSTRSDRLAVGFSTT
VKDGILVRIDSAPGLGDFLQLHIEQGKIGVVFNIGTVDISIKEERTPVNDGKYHVVRFTR
NGGNATLQVDNWPVNEHYPTGRQLTIFNTQAQIAIGGKDKGRLFQGQLSGLYYDGL
KVLN
MAAENNPNIKINGSVRLVGEVPSILGTTQTTSMPPEMSTTVMETTTTMATTTTRKNRSTA
SIQPTSDDLVSSAECSSDDEDFVECEPSTGGELVIPLLVEDPLATPPIATRAPSITLPPT
FRPLLTIIETTKDSLSMTSEAGLPCLSDQGSDGCDDDGLVISGYGSGETFDSNLPPTDDE
DFYTTFSLVTDKSLSTSIFEGGYKAHAPKWESKDFRPNKVSETSRTTTTSLSPELIRFTA
SSSSGMVPKLPAGKMNNRDLKPQPDIVLLPLPTAYELDSTKLKSPLITSPMFRNVPTANP
TEPGIRRVPGASEVIRESSSTTGMVVGIVAAAALCILILLYAMYKYRNRDEGSYQVDETR
NYISNSAQSNGTLMKEKQQSSKSGHKKQKNKDRE
YYV
Sequence length 637
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y4C0
Protein name Neurexin-3 (Neurexin III-alpha) (Neurexin-3-alpha)
Protein function Neuronal cell surface protein that may be involved in cell recognition and cell adhesion. May mediate intracellular signaling (By similarity).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02210 Laminin_G_2 55 184 Laminin G domain Domain
PF02210 Laminin_G_2 287 413 Laminin G domain Domain
PF02210 Laminin_G_2 475 619 Laminin G domain Domain
PF00008 EGF 647 678 EGF-like domain Domain
PF02210 Laminin_G_2 713 843 Laminin G domain Domain
PF02210 Laminin_G_2 899 1027 Laminin G domain Domain
PF02210 Laminin_G_2 1122 1241 Laminin G domain Domain
PF01034 Syndecan 1560 1626 Syndecan domain Family
Tissue specificity TISSUE SPECIFICITY: Expressed in the blood vessel walls (at protein level). Highly expressed in brain, lung, and pancreas; a lower level of expression is detectable in heart, placenta, liver, and kidney, whereas no expression can be observed in skeletal m
Sequence
MSSTLHSVFFTLKVSILLGSLLGLCLGLEFMGLPNQWARYLRWDASTRSDLSFQFKTNVS
TGLLLYLDDGGVCDFLCLSLVDGRVQLRFSMDCAETAVLSNKQVNDSSWHFLMVSRDRLR
TVLMLDGEGQSGELQPQRPYMDVVSDLFLGGVPTDIRPSALTLDGVQAMPGFKGLILDLK
YGNS
EPRLLGSRGVQMDAEGPCGERPCENGGICFLLDGHPTCDCSTTGYGGKLCSEDVSQ
DPGLSHLMMSEQAREENVATFRGSEYLCYDLSQNPIQSSSDEITLSFKTWQRNGLILHTG
KSADYVNLALKDGAVSLVINLGSGAFEAIVEPVNGKFNDNAWHDVKVTRNLRQVTISVDG
ILTTTGYTQEDYTMLGSDDFFYVGGSPSTADLPGSPVSNNFMGCLKEVVYKNN
DIRLELS
RLARIADTKMKIYGEVVFKCENVATLDPINFETPEAYISLPKWNTKRMGSISFDFRTTEP
NGLILFTHGKPQERKDARSQKNTKVDFFAVELLDGNLYLLLDMGSGTIKVKATQKKANDG
EWYHVDIQRDGRSGTISVNSRRTPFTASGESEILDLEGDMYLGGLPENRAGLILPTELWT
AMLNYGYVGCIRDLFIDGR
SKNIRQLAEMQNAAGVKSSCSRMSAKQCDSYPCKNNAVCKD
GWNRFICDCTGTGYWGRT
CEREASILSYDGSMYMKIIMPMVMHTEAEDVSFRFMSQRAYG
LLVATTSRDSADTLRLELDGGRVKLMVNLDCIRINCNSSKGPETLYAGQKLNDNEWHTVR
VVRRGKSLKLTVDDDVAEGTMVGDHTRLEFHNIETGIMTEKRYISVVPSSFIGHLQSLMF
NGL
LYIDLCKNGDIDYCELKARFGLRNIIADPVTFKTKSSYLSLATLQAYTSMHLFFQFK
TTSPDGFILFNSGDGNDFIAVELVKGYIHYVFDLGNGPNVIKGNSDRPLNDNQWHNVVIT
RDNSNTHSLKVDTKVVTQVINGAKNLDLKGDLYMAGLAQGMYSNLPKLVASRDGFQGCLA
SVDLNGR
LPDLINDALHRSGQIERGCEGPSTTCQEDSCANQGVCMQQWEGFTCDCSMTSY
SGNQCNDPGATYIFGKSGGLILYTWPANDRPSTRSDRLAVGFSTTVKDGILVRIDSAPGL
GDFLQLHIEQGKIGVVFNIGTVDISIKEERTPVNDGKYHVVRFTRNGGNATLQVDNWPVN
EHYPTGRQLTIFNTQAQIAIGGKDKGRLFQGQLSGLYYDGL
KVLNMAAENNPNIKINGSV
RLVGEVPSILGTTQTTSMPPEMSTTVMETTTTMATTTTRKNRSTASIQPTSDDLVSSAEC
SSDDEDFVECEPSTTGGELVIPLLVEDPLATPPIATRAPSITLPPTFRPLLTIIETTKDS
LSMTSEAGLPCLSDQGSDGCDDDGLVISGYGSGETFDSNLPPTDDEDFYTTFSLVTDKSL
STSIFEGGYKAHAPKWESKDFRPNKVSETSRTTTTSLSPELIRFTASSSSGMVPKLPAGK
MNNRDLKPQPDIVLLPLPTAYELDSTKLKSPLITSPMFRNVPTANPTEPGIRRVPGASEV
IRESSSTTGMVVGIVAAAALCILILLYAMYKYRNRDEGSYQVDETRNYISNSAQSNGTLM
KEKQQS
SKSGHKKQKNKDREYYV
Sequence length 1643
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Cell adhesion molecules   Neurexins and neuroligins
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
44
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 Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Relative macrocephaly Pathogenic rs1057519451 RCV000416434
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Short stature Pathogenic rs1057519451 RCV000416434
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 23301059
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 23301059
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 30902061 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis, Sporadic Lateral Sclerosis BEFREE 27052956
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorder Autism Pubtator 22209245, 22543975, 30559312, 37372397 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders Autism Spectrum Disorder BEFREE 21647150, 22209245, 23393157
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders Autism Spectrum Disorder GENOMICS_ENGLAND_DG 30076746
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autistic Disorder Autism Pubtator 21647150, 22209245, 30076746, 30902061, 37372397 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autistic Disorder Autism BEFREE 22209245, 30076746, 30902061
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autistic Disorder Autism GENOMICS_ENGLAND_DG 22209245
★★☆☆☆
Found in Text Mining + Unknown/Other Associations