|
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 |
|
| 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 |
|
| Sequence length |
1643 |
| Interactions |
View interactions |
|
|
| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Autism |
Benign; Uncertain significance |
rs117696080, rs12432103 |
RCV000722090 RCV000722091 |
| Autism spectrum disorder |
Uncertain significance; Likely benign |
rs1362976615, rs755709938 |
RCV003127265 RCV003127266 |
| NRXN3-associated neurodevelopmental disorder |
Uncertain significance |
rs769211538 |
RCV004799376 |
| NRXN3-related disorder |
Uncertain significance; Likely benign; Benign |
rs2510812714, rs969254493, rs760723868, rs61738630, rs369075241, rs780548844, rs34083173, rs10603296, rs374407933, rs772146074, rs764303359, rs2503399052, rs766184400, rs1248179449, rs139723044, rs771791112, rs1034245105, rs1036198630, rs1567817019, rs531244597, rs138817150, rs2097675391, rs140907035, rs778188448, rs371317781, rs141234557, rs773225464, rs202029628, rs556818436, rs367867090 View all (15 more) |
RCV003429083 RCV003391365 RCV003414572 RCV003980889 RCV003909387 RCV003921725 RCV003914697 RCV003974058 RCV003979459 RCV003899489 RCV003911407 RCV003911507 RCV003934529 RCV003931742 RCV003927307 RCV003949622 RCV003949629 RCV003949719 RCV003944461 RCV003914537 RCV003951400 RCV003934734 RCV003922315 RCV003924253 RCV003926833 RCV003932143 RCV003936825 RCV003944268 RCV003946773 RCV003967021 RCV003959857 |
|
| 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 |
| Carcinoma Non Small Cell Lung |
Associate |
22872573 |
| Central Nervous System Diseases |
Associate |
19557197 |
| Chromosomal Instability |
Associate |
23245376 |
| Congenital Abnormalities |
Associate |
18978678 |
| Depressive Disorder Major |
Inhibit |
32398672 |
| Developmental Disabilities |
Associate |
30559312, 37372397 |
| Facial Dysmorphism with Multiple Malformations |
Associate |
30076746 |
| Glioblastoma |
Associate |
35429411 |
| Graves Disease |
Associate |
23118423 |
| Hirschsprung Disease |
Associate |
29622757 |
| Hypertension |
Associate |
25189868 |
| Leukemia Myeloid Acute |
Associate |
30558617 |
| Leukemic Infiltration |
Associate |
30558617 |
| Mental Disorders |
Associate |
30076746, 30976086 |
| Nasopharyngeal Carcinoma |
Associate |
33038291 |
| Nerve Degeneration |
Associate |
30902061 |
| Obesity |
Associate |
19557197, 21552555, 21674055, 21688152, 21779088, 23349760, 23408508, 27771443 |
| Pancreatic Neoplasms |
Associate |
38049855 |
| Philadelphia Chromosome |
Associate |
37819686 |
| Precursor Cell Lymphoblastic Leukemia Lymphoma |
Associate |
37819686 |
| Schizophrenia |
Associate |
30076746, 30902061 |
| Substance Related Disorders |
Associate |
19557197, 30902061, 34647286, 34750790 |
| Tobacco Use Disorder |
Associate |
34647286, 34750790 |
| Voice Disorders |
Associate |
23245376 |
|