Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9369
Gene name Gene Name - the full gene name approved by the HGNC.
Neurexin 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NRXN3
Synonyms (NCBI Gene) Gene synonyms aliases
C14orf60
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q24.3-q31.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005886 Component Plasma membrane TAS
GO:0005887 Component Integral component of plasma membrane TAS
GO:0007158 Process Neuron cell-cell adhesion TAS 18923512
GO:0007411 Process Axon guidance TAS
GO:0007612 Process Learning IGI 22209245
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600567 8010 ENSG00000021645
Protein
UniProt ID 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 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Autism spectrum disorder Autism Spectrum Disorders rs724159978, rs75184679, rs119103221, rs9332964, rs121912562, rs1594344233, rs727504317, rs111033204, rs1801086, rs587784464, rs724159948, rs764659822, rs794727977, rs796052733, rs796052728
View all (51 more)
30076746
Autism Autistic Disorder rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699
View all (8 more)
22209245
Diabetes mellitus Diabetes Mellitus, Non-Insulin-Dependent rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237
View all (293 more)
30054458, 28566273
Macrocephaly Relative macrocephaly rs786204854, rs764333096, rs1557739557
Unknown
Disease term Disease name Evidence References Source
Diabetes Diabetes GWAS
Crohn Disease Crohn Disease GWAS
Breast Cancer Breast Cancer Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients GWAS, CBGDA
Hypertension Hypertension GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma Associate 23301059
Alzheimer Disease Associate 30902061
Autism Spectrum Disorder Associate 22209245, 22543975, 30559312, 37372397
Autistic Disorder Associate 21647150, 22209245, 30076746, 30902061, 37372397
Borderline Personality Disorder Associate 23245376
Brain Diseases Associate 24265751
Breast Neoplasms Associate 21688152
Carbon Monoxide Poisoning Associate 24265751
Carcinogenesis Associate 21688152, 23301059
Carcinoma Hepatocellular Associate 22997493