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Aliases for NELL2 Gene

Aliases for NELL2 Gene

  • Neural EGFL Like 2 2 3 5
  • NEL-Like Protein 2 3 4
  • NRP2 3 4
  • Protein Kinase C-Binding Protein NELL2 3
  • Neural Epidermal Growth Factor-Like 2 3
  • NEL-Related Protein 2 3
  • Nel-Related Protein 2 4
  • Nel (Chicken)-Like 2 2
  • NEL-Like 2 (Chicken) 2

External Ids for NELL2 Gene

Previous GeneCards Identifiers for NELL2 Gene

  • GC12M044981
  • GC12M044801
  • GC12M044618
  • GC12M043188
  • GC12M041929

Summaries for NELL2 Gene

Entrez Gene Summary for NELL2 Gene

  • 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 different isoforms exist, and at least one isoform appears to be a secreted protein. Studies in mouse suggest that this protein plays a role in neural cell growth and differentiation as well as in oncogenesis. [provided by RefSeq, Feb 2009]

GeneCards Summary for NELL2 Gene

NELL2 (Neural EGFL Like 2) is a Protein Coding gene. Diseases associated with NELL2 include Tuberculous Meningitis. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is NELL1.

UniProtKB/Swiss-Prot for NELL2 Gene

  • Required for neuron survival through the modulation of MAPK pathways (By similarity). Involved in the regulation of hypothalamic GNRH secretion and the control of puberty (By similarity).

Gene Wiki entry for NELL2 Gene

Additional gene information for NELL2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NELL2 Gene

Genomics for NELL2 Gene

Regulatory Elements for NELL2 Gene

Enhancers for NELL2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12H044832 0.9 Ensembl ENCODE dbSUPER 31.4 +87.2 87249 4.4 SPI1 NELL2 GC12M044833 GC12M044826
GH12H044846 1.5 FANTOM5 Ensembl ENCODE dbSUPER 17.2 +73.9 73900 2.3 PKNOX1 BATF EED SCRT2 ETV6 RUNX3 IKZF2 CREM SCRT1 HLF NELL2 DBX2 GC12M044833 GC12M044853
GH12H044874 1.4 Ensembl ENCODE dbSUPER 16.4 +45.9 45851 2.4 SIN3A ZNF76 KLF17 ZNF2 ZEB1 GLIS2 ZNF366 SCRT2 KLF7 EGR2 NELL2 DBX2 RACGAP1P ENSG00000201788 GC12M044881 GC12M044853
GH12H045230 1.9 FANTOM5 Ensembl ENCODE dbSUPER 7.4 -311.8 -311822 5.7 PKNOX1 ARNT SIN3A FEZF1 BRCA1 FOS RUNX3 DEK JUNB PPARG LINC00938 NELL2 ANO6 PLEKHA8P1 ENSG00000278351
GH12H044889 0.7 ENCODE 19.9 +31.9 31884 1.1 TAL1 JUN CHAMP1 FOSL1 TCF12 GATA2 NCOR1 FOS NFE2 TRIM24 NELL2 DBX2 GC12M044881 ENSG00000201788 GC12M044877
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NELL2 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the NELL2 gene promoter:

Genomic Locations for NELL2 Gene

Genomic Locations for NELL2 Gene
chr12:44,508,275-44,921,848
(GRCh38/hg38)
Size:
413,574 bases
Orientation:
Minus strand
chr12:44,902,058-45,315,631
(GRCh37/hg19)

Genomic View for NELL2 Gene

Genes around NELL2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NELL2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NELL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NELL2 Gene

Proteins for NELL2 Gene

  • Protein details for NELL2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99435-NELL2_HUMAN
    Recommended name:
    Protein kinase C-binding protein NELL2
    Protein Accession:
    Q99435
    Secondary Accessions:
    • B7Z2U7
    • B7Z5Q4
    • B7Z9J5
    • B7Z9U3
    • Q96JS2

    Protein attributes for NELL2 Gene

    Size:
    816 amino acids
    Molecular mass:
    91346 Da
    Quaternary structure:
    • Homotrimer. Binds to PKC beta-1 (By similarity).

    Alternative splice isoforms for NELL2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NELL2 Gene

Post-translational modifications for NELL2 Gene

  • Glycosylation at posLast=5353, Asn225, Asn293, Asn298, posLast=517517, posLast=615615, and Asn635
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for NELL2
  • Santa Cruz Biotechnology (SCBT) Antibodies for NELL2

No data available for DME Specific Peptides for NELL2 Gene

Domains & Families for NELL2 Gene

Gene Families for NELL2 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for NELL2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with NELL2: view

No data available for UniProtKB/Swiss-Prot for NELL2 Gene

Function for NELL2 Gene

Molecular function for NELL2 Gene

GENATLAS Biochemistry:
chicken nel-like 2 homolog with a wide and weak expression,expressed in adult and fetal brain and hemopoietic cells (nucleated peripheral blood cells) but not in B cell at an earlier stage of development,potentially playing an oncogenic role in these cells,involved in the growth and differentiation of neural cells
UniProtKB/Swiss-Prot Function:
Required for neuron survival through the modulation of MAPK pathways (By similarity). Involved in the regulation of hypothalamic GNRH secretion and the control of puberty (By similarity).

Phenotypes From GWAS Catalog for NELL2 Gene

Gene Ontology (GO) - Molecular Function for NELL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 16713569
genes like me logo Genes that share ontologies with NELL2: view
genes like me logo Genes that share phenotypes with NELL2: view

Animal Models for NELL2 Gene

MGI Knock Outs for NELL2:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for NELL2 Gene

Localization for NELL2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NELL2 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NELL2 gene
Compartment Confidence
extracellular 4
plasma membrane 3
cytoskeleton 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 1
cytosol 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for NELL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005623 cell IEA --
genes like me logo Genes that share ontologies with NELL2: view

Pathways & Interactions for NELL2 Gene

SuperPathways for NELL2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for NELL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070050 neuron cellular homeostasis ISS --
genes like me logo Genes that share ontologies with NELL2: view

No data available for Pathways by source and SIGNOR curated interactions for NELL2 Gene

Drugs & Compounds for NELL2 Gene

No Compound Related Data Available

Transcripts for NELL2 Gene

Unigene Clusters for NELL2 Gene

NEL-like 2 (chicken):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NELL2 Gene

No ASD Table

Relevant External Links for NELL2 Gene

GeneLoc Exon Structure for
NELL2
ECgene alternative splicing isoforms for
NELL2

Expression for NELL2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NELL2 Gene

mRNA differential expression in normal tissues according to GTEx for NELL2 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x8.5), Brain - Cortex (x7.2), Brain - Anterior cingulate cortex (BA24) (x7.1), and Brain - Hippocampus (x6.1).

Protein differential expression in normal tissues from HIPED for NELL2 Gene

This gene is overexpressed in Cerebrospinal fluid (59.1) and Vitreous humor (9.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for NELL2 Gene



Protein tissue co-expression partners for NELL2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NELL2 Gene:

NELL2

SOURCE GeneReport for Unigene cluster for NELL2 Gene:

Hs.505326

Evidence on tissue expression from TISSUES for NELL2 Gene

  • Nervous system(5)
  • Intestine(4.2)
genes like me logo Genes that share expression patterns with NELL2: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for NELL2 Gene

Orthologs for NELL2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for NELL2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NELL2 34 33
  • 97.2 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NELL2 34 33
  • 94 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 94 (a)
OneToMany
-- 34
  • 90 (a)
OneToMany
cow
(Bos Taurus)
Mammalia NELL2 33 34
  • 92.69 (n)
oppossum
(Monodelphis domestica)
Mammalia NELL2 34
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nell2 33 16 34
  • 86.37 (n)
rat
(Rattus norvegicus)
Mammalia Nell2 33
  • 85.92 (n)
chicken
(Gallus gallus)
Aves NELL2 33 34
  • 81.37 (n)
lizard
(Anolis carolinensis)
Reptilia NELL2 34
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nell2 33
  • 77.64 (n)
Str.15716 33
African clawed frog
(Xenopus laevis)
Amphibia nell2-prov 33
zebrafish
(Danio rerio)
Actinopterygii nell2b 33 34
  • 67.21 (n)
NELL2A 34
  • 54 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11077 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 30 (a)
OneToMany
Species where no ortholog for NELL2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NELL2 Gene

ENSEMBL:
Gene Tree for NELL2 (if available)
TreeFam:
Gene Tree for NELL2 (if available)

Paralogs for NELL2 Gene

Paralogs for NELL2 Gene

genes like me logo Genes that share paralogs with NELL2: view

Variants for NELL2 Gene

Sequence variations from dbSNP and Humsavar for NELL2 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs1000003235 -- 44,797,245(+) GAAAG(A/G)CATGG intron-variant
rs1000006198 -- 44,589,889(+) GCATA(A/T)CACTA intron-variant
rs1000018460 -- 44,564,966(+) TCTCA(C/T)AGTGT intron-variant
rs1000018909 -- 44,887,766(+) ATTTT(C/G)TCCCA intron-variant
rs1000020888 -- 44,536,006(+) TATAT(A/G)TAACT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NELL2 Gene

Variant ID Type Subtype PubMed ID
nsv983484 CNV duplication 23825009
nsv983317 CNV duplication 23825009
nsv958665 CNV deletion 24416366
nsv832394 CNV loss 17160897
nsv687 CNV insertion 18451855
nsv526438 CNV loss 19592680
nsv1144618 CNV deletion 24896259
nsv1051285 CNV loss 25217958
nsv1049818 CNV gain 25217958
nsv1049080 CNV loss 25217958
esv3629376 CNV loss 21293372
esv3629375 CNV loss 21293372
esv3629373 CNV loss 21293372
esv3629372 CNV loss 21293372
esv3629371 CNV loss 21293372
esv3549143 CNV deletion 23714750
esv3439749 CNV insertion 20981092
esv3411422 CNV insertion 20981092
esv3406805 CNV insertion 20981092
esv3352095 CNV insertion 20981092
esv3345257 CNV insertion 20981092
esv3327195 CNV insertion 20981092
esv3309428 CNV mobile element insertion 20981092
esv3303344 CNV mobile element insertion 20981092
esv2762978 CNV loss 21179565
esv2762976 CNV gain 21179565
esv2745835 CNV deletion 23290073
esv2745834 CNV deletion 23290073
esv2745833 CNV deletion 23290073
esv2745832 CNV deletion 23290073
esv2745831 CNV deletion 23290073
esv2672049 CNV deletion 23128226
esv2604257 CNV insertion 19546169
esv2457498 CNV deletion 19546169
esv1923023 CNV deletion 18987734
esv1571217 CNV insertion 17803354
esv1004421 CNV deletion 20482838
dgv288e199 CNV deletion 23128226
dgv287e199 CNV deletion 23128226

Variation tolerance for NELL2 Gene

Residual Variation Intolerance Score: 26.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.80; 58.33% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NELL2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NELL2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NELL2 Gene

Disorders for NELL2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for NELL2 Gene - From: GeneCards

Disorder Aliases PubMed IDs
tuberculous meningitis
  • tb meningitis
- elite association - COSMIC cancer census association via MalaCards
Search NELL2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for NELL2

Genetic Association Database (GAD)
NELL2
Human Genome Epidemiology (HuGE) Navigator
NELL2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NELL2
genes like me logo Genes that share disorders with NELL2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NELL2 Gene

Publications for NELL2 Gene

  1. Cloning and characterization of two novel human cDNAs (NELL1 and NELL2) encoding proteins with six EGF-like repeats. (PMID: 8975702) Watanabe TK … Takahashi Ei (Genomics 1996) 2 3 4 60
  2. NELL2 function in the protection of cells against endoplasmic reticulum stress. (PMID: 25537860) Kim DY … Lee BJ (Molecules and cells 2015) 2 3 60
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  5. Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PMID: 15340161) Zhang Z … Henzel WJ (Protein science : a publication of the Protein Society 2004) 3 4 60

Products for NELL2 Gene

Sources for NELL2 Gene

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