NELL2 (neural EGFL like 2)

Gene Gene information from NCBI Gene database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID 4753
Gene name Neural EGFL like 2
Gene symbol NELL2
Synonyms (NCBI Gene)
NRP2
Chromosome 12
Chromosome location 12q12
Summary The protein encoded by this gene is a glycoprotein containing several von Willebrand factor C domains and epidermal growth factor (EGF)-like domains. The encoded protein acts as a homotrimer and is found in the cytoplasm. Several variants encoding a few d
miRNA miRNA information provided by mirtarbase database.
63
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all (63)
miRTarBase ID miRNA Experiments Reference
MIRT717768 hsa-miR-4695-5p HITS-CLIP 19536157
MIRT717767 hsa-miR-4779 HITS-CLIP 19536157
MIRT717766 hsa-miR-6729-3p HITS-CLIP 19536157
MIRT717765 hsa-miR-6801-3p HITS-CLIP 19536157
MIRT717764 hsa-miR-6810-3p HITS-CLIP 19536157
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all (1)
Transcription factor Regulation Reference
E2F1 Unknown 23829315
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
17
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all (17)
GO ID Ontology Definition Evidence Reference
GO:0005080 Function Protein kinase C binding IBA
GO:0005509 Function Calcium ion binding IDA 32198364
GO:0005509 Function Calcium ion binding IEA
GO:0005515 Function Protein binding IPI 16713569, 21653829, 26586761, 32198364, 32296183, 32499443, 32814053
GO:0005576 Component Extracellular region IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
602320 7751 ENSG00000184613
Protein Protein information from UniProt database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q99435
Protein name Protein kinase C-binding protein NELL2 (NEL-like protein 2) (Nel-related protein 2)
Protein function Plays multiple roles in neural tissues, regulates neuronal proliferation, survival, differentiation, polarization, as well as axon guidance and synaptic functions. Plays an important role in axon development during neuronal differentiation throu
PDB 6POG
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02210 Laminin_G_2 95 → 211 Laminin G domain Domain
PF00093 VWC 274 → 330 von Willebrand factor type C domain Family
PF07645 EGF_CA 440 → 480 Calcium-binding EGF domain Domain
PF07645 EGF_CA 482 → 522 Calcium-binding EGF domain Domain
PF07645 EGF_CA 555 → 600 Calcium-binding EGF domain Domain
PF07645 EGF_CA 602 → 640 Calcium-binding EGF domain Domain
PF00093 VWC 700 → 755 von Willebrand factor type C domain Family
Sequence 
MESRVLLRTFCLIFGLGAVWGLGVDPSLQIDVLTELELGESTTGVRQVPGLHNGTKAFLF
QDTPRSIKASTATAEQFFQKLRNKHEFTILVTLKQTHLNSGVILSIHHLDHRYLELESSG
HRNEVRLHYRSGSHRPHTEVFPYILADDKWHKLSLAISASHLILHIDCNKIYERVVEKPS
TDLPLGTTFWLGQRNNAHGYFKGIMQDVQLLVMPQGFIAQCPDLNRTCPTCNDFHGLVQK
IMELQDILAKTSAKLSRAEQRMNRLDQCYCERTCTMKGTTYREFESWIDGCKNCTCLNGT
IQCETLICPNPDCPLKSALAYVDGKCCKECKSICQFQGRTYFEGERNTVYSSSGVCVLYE
CKDQTMKLVESSGCPALDCPESHQITLSHSCCKVCKGYDFCSERHNCMENSICRNLNDRA
VCSCRDGFRALREDNAYCEDIDECAEGRHYCRENTMCVNTPGSFMCICKTGYIRIDDYSC
TEHDECITNQHNCDENALCFNTVGGHNCVCKPGYTGNGTTCKAFCKDGCRNGGACIAANV
CACPQGFTGPSCETDIDECSDGFVQCDSRANCINLPGWYHCECRDGYHDNGMFSPSGESC
EDIDECGTGRHSCANDTICFNLDGGYDCRCPHGKNCTGDCIHDGKVKHNGQIWVLENDRC
SVCSCQNGFVMCRRMVCDCENPTVDLFCCPECDPRLSSQCLHQNGETLYNSGDTWVQNCQ
QCRCLQGEVDCWPLPCPDVECEFSILPENECCPRCVTDPCQADTIRNDITKTCLDEMNVV
RFTGSSWIKHGTECTLCQCKNGHICCSVDPQCLQEL
Sequence length 816
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
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)
Show/Hide Unknown Diseases (1)
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
SCOLIOSIS — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (45)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 28000859
★★★★★
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm Abdominal Aortic aneurysm Pubtator 29439675 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma Pubtator 11803583 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Benign Prostatic Hyperplasia Benign Prostatic Hyperplasia BEFREE 11304808
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 40133552 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 25726761 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 19765808
★★★★★
★☆☆☆☆
Found in Text Mining only
Chronic eosinophilic leukemia Eosinophilic Leukemia BEFREE 17917967
★★★★★
★☆☆☆☆
Found in Text Mining only
Colon Carcinoma Colon Carcinoma BEFREE 28742689
★★★★★
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 28742689
★★★★★
★☆☆☆☆
Found in Text Mining only