Gene Gene information from NCBI Gene database.
Entrez ID 79625
Gene name Neuron derived neurotrophic factor
Gene symbol NDNF
Synonyms (NCBI Gene)
C4orf31HH25NORD
Chromosome 4
Chromosome location 4q27
miRNA miRNA information provided by mirtarbase database.
116
miRTarBase ID miRNA Experiments Reference
MIRT655970 hsa-miR-6865-3p HITS-CLIP 23824327
MIRT655969 hsa-miR-1224-3p HITS-CLIP 23824327
MIRT655968 hsa-miR-6892-3p HITS-CLIP 23824327
MIRT655967 hsa-miR-3183 HITS-CLIP 23824327
MIRT655966 hsa-miR-4723-3p HITS-CLIP 23824327
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 IDA 24706764
GO:0001764 Process Neuron migration IDA 20969804
GO:0002931 Process Response to ischemia IEA
GO:0005539 Function Glycosaminoglycan binding IEA
GO:0005539 Function Glycosaminoglycan binding ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616506 26256 ENSG00000173376
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8TB73
Protein name Protein NDNF (Neuron-derived neurotrophic factor)
Protein function Secretory protein that plays a role in various cellular processes (PubMed:20969804, PubMed:24706764, PubMed:31883645). Acts as a chemorepellent acting on gonadotropin-releasing hormone (GnRH) expressing neurons regulating their migration to the
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10179 DUF2369 291 383 Uncharacterised conserved protein (DUF2369) Family
Tissue specificity TISSUE SPECIFICITY: Expressed in neurons along the gonadotropin-releasing hormone (GnRH) expressing neurons migratory route. {ECO:0000269|PubMed:31883645}.
Sequence
MVLLHWCLLWLLFPLSSRTQKLPTRDEELFQMQIRDKAFFHDSSVIPDGAEISSYLFRDT
PKRYFFVVEEDNTPLSVTVTPCDAPLEWKLSLQELPEDRSGEGSGDLEPLEQQKQQIINE
EGTELFSYKGNDVEYFISSSSPSGLYQLDLLSTEKDTHFKVYATTTPESDQPYPELPYDP
RVDVTSLGRTTVTLAWKPSPTASLLKQPIQYCVVINKEHNFKSLCAVEAKLSADDAFMMA
PKPGLDFSPFDFAHFGFPSDNSGKERSFQAKPSPKLGRHVYSRPKVDIQKICIGNKNIFT
VSDLKPDTQYYFDVFVVNINSNMSTAYVGTFARTKEEAKQKTVELKDGKITDVFVKRKGA
KFLRFAPVSSHQKVTFFIHSCLD
AVQIQVRRDGKLLLSQNVEGIQQFQLRGKPKAKYLVR
LKGNKKGASMLKILATTRPTKQSFPSLPEDTRIKAFDKLRTCSSATVAWLGTQERNKFCI
YKKEVDDNYNEDQKKREQNQCLGPDIRKKSEKVLCKYFHSQNLQKAVTTETIKGLQPGKS
YLLDVYVIGHGGHSVKYQSKVVKTRKFC
Sequence length 568
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
12
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
Hypogonadotropic hypogonadism 25 with anosmia Likely pathogenic; Pathogenic rs2476439283, rs1727077385, rs1726901153, rs1726871489 RCV002290153
RCV001034704
RCV001034705
RCV001034706
★★★★☆
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
ENDOMETRIOSIS CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYPOGONADOTROPIC HYPOGONADISM Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYPOPITUITARISM Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
IDIOPATHIC GROWTH HORMONE DEFICIENCY Disgenet
★★☆☆☆
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
cervical cancer Cervical Cancer BEFREE 29572178
★☆☆☆☆
Found in Text Mining only
Cervix carcinoma Cervix carcinoma BEFREE 29572178
★☆☆☆☆
Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma Renal Carcinoma BEFREE 30867731
★☆☆☆☆
Found in Text Mining only
Diabetic Nephropathies Diabetic neuropathy Pubtator 36092962 Associate
★☆☆☆☆
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
Germ cell tumor Tumor BEFREE 28893722
★☆☆☆☆
Found in Text Mining only
Kallmann syndrome Kallmann Syndrome Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Malignant tumor of cervix Cervical Tumor BEFREE 29572178
★☆☆☆☆
Found in Text Mining only
Myocardial Infarction Myocardial Infarction BEFREE 31287219
★☆☆☆☆
Found in Text Mining only