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 protei... See more...

Aliases for NELL2 Gene

Aliases for NELL2 Gene

  • Neural EGFL Like 2 2 3 5
  • Protein Kinase C-Binding Protein NELL2 3 4
  • NEL-Like Protein 2 3 4
  • NRP2 3 4
  • 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 Pediatric Infratentorial Ependymoma and Pediatric Ependymoma. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is NELL1.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for NELL2 Gene

Genomics for NELL2 Gene

GeneHancer (GH) Regulatory Elements for NELL2 Gene

Promoters and enhancers for NELL2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J044874 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 542.9 +46.2 46248 4 CTCF ZNF10 ZIC2 REST ZBTB10 ZNF423 ZBTB26 TRIM28 SAP30 KLF7 NELL2 lnc-DBX2-3 DBX2 lnc-DBX2-5
GH12J044827 Enhancer 0.9 Ensembl ENCODE dbSUPER 31.4 +88.0 88047 16.4 ATF2 RAD51 CREB1 SRF ZNF513 MITF TOE1 SPI1 USF2 JUND NELL2 DBX2 lnc-DBX2-5 piR-39341-082 lnc-TMEM117-4
GH12J044846 Promoter/Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 17.3 +73.9 73899 2.3 SP1 MEF2C CBFB ZNF384 NR2C1 BATF IRF4 POU2F2 NR2F1 STAT5A NELL2 DBX2 lnc-DBX2-5 piR-39341-082 lnc-TMEM117-4
GH12J044889 Enhancer 0.7 ENCODE 19.9 +31.9 31884 1.1 NCOR1 NFIC FOSL1 TRIM24 ATF3 TAL1 STAT5A FOXM1 TCF12 GATA2 NELL2 DBX2 ENSG00000201788
GH12J045230 Enhancer 1.5 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 7.3 -311.8 -311822 5.7 TCF12 JUND TEAD4 FOS ZIC2 REST TRIM28 RELA EP300 SKI NELL2 ANO6 lnc-DBX2-4 PLEKHA8P1 ENSG00000278351
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NELL2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NELL2

Top Transcription factor binding sites by QIAGEN in the NELL2 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun

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)
Size:
413,574 bases
Orientation:
Minus strand

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 Asn53, Asn225, Asn293, Asn298, Asn517, Asn615, and Asn635
  • Modification sites at PhosphoSitePlus

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

Protein Domains for NELL2 Gene

Blocks:
  • Aspartic acid and asparagine hydroxylation site
  • EGF-like calcium-binding
  • Laminin G
  • von Willebrand factor, type C
  • Thrombospondin, N-terminal
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NELL2 Gene

GenScript: Design optimal peptide antigens:
  • Nel-related protein 2 (NELL2_HUMAN)
genes like me logo Genes that share domains with NELL2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for NELL2 Gene

Function for NELL2 Gene

Molecular function for NELL2 Gene

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).
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

Phenotypes From GWAS Catalog for NELL2 Gene

Gene Ontology (GO) - Molecular Function for NELL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005080 protein kinase C binding IBA 21873635
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IEA,IPI 16713569
GO:0008201 heparin binding IBA 21873635
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

  • Taconic Biosciences Mouse Models for NELL2

CRISPR 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
cytosol 2
endoplasmic reticulum 1
endosome 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 --
GO:0005737 cytoplasm IBA 21873635
genes like me logo Genes that share ontologies with NELL2: view

Pathways & Interactions for NELL2 Gene

PathCards logo

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

mRNA/cDNA for NELL2 Gene

5 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
20 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

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

Expression for NELL2 Gene

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



Protein tissue co-expression partners for NELL2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 31 30
  • 97.2 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NELL2 31 30
  • 94 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 94 (a)
OneToMany
-- 31
  • 90 (a)
OneToMany
cow
(Bos Taurus)
Mammalia NELL2 31 30
  • 92.69 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NELL2 31
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nell2 17 31 30
  • 86.37 (n)
rat
(Rattus norvegicus)
Mammalia Nell2 30
  • 85.92 (n)
chicken
(Gallus gallus)
Aves NELL2 31 30
  • 81.37 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NELL2 31
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nell2 30
  • 77.64 (n)
Str.15716 30
African clawed frog
(Xenopus laevis)
Amphibia nell2-prov 30
zebrafish
(Danio rerio)
Actinopterygii nell2b 31 30
  • 67.21 (n)
OneToMany
NELL2A 31
  • 54 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11077 30
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for NELL2: view image

Paralogs for NELL2 Gene

Paralogs for NELL2 Gene

(18) SIMAP similar genes for NELL2 Gene using alignment to 11 proteins:

  • NELL2_HUMAN
  • F8VRQ0_HUMAN
  • F8VVB6_HUMAN
  • F8VXR5_HUMAN
  • F8VZ72_HUMAN
  • F8W1A2_HUMAN
  • F8W1I8_HUMAN
  • H0YHY5_HUMAN
  • H0YI34_HUMAN
  • H0YIT4_HUMAN
  • L0R6L1_HUMAN
genes like me logo Genes that share paralogs with NELL2: view

Variants for NELL2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NELL2 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs1050710 - p.Pro631Leu
rs17574839 - p.Asn347Asp
rs2658973 - p.Val5Ile

Additional dbSNP identifiers (rs#s) for NELL2 Gene

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

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

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)

Additional Variant Information for NELL2 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for NELL2 Gene

MalaCards: The human disease database

(9) MalaCards diseases for NELL2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
pediatric infratentorial ependymoma
  • childhood infratentorial ependymoma
pediatric ependymoma
  • childhood ependymoma
malignant ependymoma
  • ependymal neoplasm
cerebral ventricle cancer
  • cerebral ventricle neoplasm
spinal cord ependymoma
  • ependymal neoplasm of the spinal cord
- elite association - COSMIC cancer census association via MalaCards
Search NELL2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for NELL2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 54
  2. NELL2 function in the protection of cells against endoplasmic reticulum stress. (PMID: 25537860) Kim DY … Lee BJ (Molecules and cells 2015) 2 3 54
  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 41 54
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54

Products for NELL2 Gene

Sources for NELL2 Gene