Gene Gene information from NCBI Gene database.
Entrez ID 9423
Gene name Netrin 1
Gene symbol NTN1
Synonyms (NCBI Gene)
MRMV4NET1NTN1L
Chromosome 17
Chromosome location 17p13.1
Summary Netrin is included in a family of laminin-related secreted proteins. The function of this gene has not yet been defined; however, netrin is thought to be involved in axon guidance and cell migration during development. Mutations and loss of expression o
miRNA miRNA information provided by mirtarbase database.
325
miRTarBase ID miRNA Experiments Reference
MIRT019443 hsa-miR-148b-3p Microarray 17612493
MIRT042477 hsa-miR-423-3p CLASH 23622248
MIRT036113 hsa-miR-1296-5p CLASH 23622248
MIRT715335 hsa-miR-6769a-3p HITS-CLIP 19536157
MIRT715334 hsa-miR-361-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
40
GO ID Ontology Definition Evidence Reference
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
GO:0001764 Process Neuron migration IEA
GO:0005515 Function Protein binding IPI 10102268, 19196994, 19721007, 20434207, 26190107, 28501620
GO:0005576 Component Extracellular region IDA 28945198
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601614 8029 ENSG00000065320
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O95631
Protein name Netrin-1 (Epididymis tissue protein Li 131P)
Protein function Netrins control guidance of CNS commissural axons and peripheral motor axons. Its association with either DCC or some UNC5 receptors will lead to axon attraction or repulsion, respectively. Binding to UNC5C might cause dissociation of UNC5C from
PDB 4URT , 6FKQ , 7NDG , 7NE0 , 7NE1
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00055 Laminin_N 51 283 Laminin N-terminal (Domain VI) Family
PF00053 Laminin_EGF 285 338 Laminin EGF domain Domain
PF00053 Laminin_EGF 341 401 Laminin EGF domain Domain
PF00053 Laminin_EGF 404 451 Laminin EGF domain Domain
PF01759 NTR 488 594 UNC-6/NTR/C345C module Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed in normal adult tissues with highest levels in heart, small intestine, colon, liver and prostate. Reduced expression in brain tumors and neuroblastomas. Expressed in epididymis (at protein level). {ECO:0000269|PubMed:2
Sequence
Sequence length 604
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Axon guidance   Netrin-1 signaling
DCC mediated attractive signaling
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
20
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
Mirror movements 4 Pathogenic rs1567750186, rs1567749982, rs1567750187 RCV000735954
RCV000735955
RCV000735956
★★★★☆
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
ATYPICAL FEMORAL FRACTURE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BRAIN EDEMA CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER 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 of pancreas Pancreatic adenocarcinoma BEFREE 27034160
★☆☆☆☆
Found in Text Mining only
Adult Medulloblastoma Medulloblastoma BEFREE 24812271
★☆☆☆☆
Found in Text Mining only
Agenesis of corpus callosum Agenesis Of Corpus Callosum HPO_DG
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 32711556 Associate
★☆☆☆☆
Found in Text Mining only
Amnesia Amnesia BEFREE 30804256
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 27034160
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm Aortic Aneurysm BEFREE 31035427
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm Thoracic Thoracic aortic aneurysm Pubtator 31035427 Associate
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm, Abdominal Aortic Aneurysm BEFREE 30479344
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 22231519, 23599441, 24122613, 24262644, 31801376
★☆☆☆☆
Found in Text Mining only