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    NELL2 neural EGFL like 2 [ Homo sapiens (human) ]

    Gene ID: 4753, updated on 28-Oct-2024

    Summary

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    Official Symbol
    NELL2provided by HGNC
    Official Full Name
    neural EGFL like 2provided by HGNC
    Primary source
    HGNC:HGNC:7751
    See related
    Ensembl:ENSG00000184613 MIM:602320; AllianceGenome:HGNC:7751
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NRP2
    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 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]
    Expression
    Biased expression in brain (RPKM 55.4), duodenum (RPKM 9.0) and 5 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NELL2 in Genome Data Viewer
    Location:
    12q12
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (44508275..44921848, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (44466949..44872599, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (44902058..45307772, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene transmembrane protein 117 Neighboring gene IQ motif containing F1 pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:44702016-44702516 Neighboring gene uncharacterized LOC124902922 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6221 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6222 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6223 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:44860659-44860854 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:44896667-44897166 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:44896165-44896666 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:45270221-45270722 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:45270723-45271222 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_28669 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6224 Neighboring gene uncharacterized LOC105369742 Neighboring gene Rac GTPase activating protein 1 pseudogene 1 Neighboring gene DBX2 antisense RNA 1 Neighboring gene developing brain homeobox 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. In vitro guidance of retinal axons by a tectal lamina-specific glycoprotein Nel. Jiang Y, et al. Mol Cell Neurosci, 2009 Jun. PMID 19249368, Free PMC Article
    2. iTRAQ-based quantitative proteomic analysis of cerebrospinal fluid reveals NELL2 as a potential diagnostic biomarker of tuberculous meningitis. Yang Y, et al. Int J Mol Med, 2015 May. PMID 25760060
    3. NELL2 modulates cell proliferation and apoptosis via ERK pathway in the development of benign prostatic hyperplasia. Liu J, et al. Clin Sci (Lond), 2021 Jul 16. PMID 34195782
    4. The neuronal EGF-related genes NELL1 and NELL2 are expressed in hemopoietic cells and developmentally regulated in the B lineage. Luce MJ, et al. Gene, 1999 Apr 29. PMID 10231576
    5. NELL2 function in the protection of cells against endoplasmic reticulum stress. Kim DY, et al. Mol Cells, 2015. PMID 25537860, Free PMC Article

    See all (37) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Conformational Change of the Hairpin-like-structured Robo2 Ectodomain Allows NELL1/2 Binding.
      Title: Conformational Change of the Hairpin-like-structured Robo2 Ectodomain Allows NELL1/2 Binding.
    2. NELL2 modulates cell proliferation and apoptosis via ERK pathway in the development of benign prostatic hyperplasia.
      Title: NELL2 modulates cell proliferation and apoptosis via ERK pathway in the development of benign prostatic hyperplasia.
    3. Anoctamin 5 promotes osteosarcoma development by increasing degradation of Nel-like proteins 1 and 2.
      Title: Anoctamin 5 promotes osteosarcoma development by increasing degradation of Nel-like proteins 1 and 2.
    4. results suggest that Robo2 functions as a receptor for NELL1/2, particularly under circumstances where Robo2 undergoes proteolytic digestion
      Title: Robo2 contains a cryptic binding site for neural EGFL-like (NELL) protein 1/2.
    5. CSF NELL2 is a potential diagnostic biomarker for TBM.
      Title: iTRAQ-based quantitative proteomic analysis of cerebrospinal fluid reveals NELL2 as a potential diagnostic biomarker of tuberculous meningitis.
    6. CpG islands in the NELL1 and NELL2 promoters are hypermethylated in renal cell carcinoma.NELL1 and NELL2 protein expression is downregulated in clear cell renal carcinoma.
      Title: Expression and regulatory effects on cancer cell behavior of NELL1 and NELL2 in human renal cell carcinoma.
    7. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables heparin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables identical protein binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein kinase C binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in commissural neuron axon guidance IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in fertilization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in neuron cellular homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular region ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    protein kinase C-binding protein NELL2
    Names
    NEL-like protein 2
    NEL-related protein 2
    neural epidermal growth factor-like 2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001145107.2 → NP_001138579.1  protein kinase C-binding protein NELL2 isoform a

      See identical proteins and their annotated locations for NP_001138579.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AC079033, AK299733, D83018, DB316660
      Consensus CDS
      CCDS44863.1
      UniProtKB/TrEMBL
      B7Z625
      Related
      ENSP00000416341.2, ENST00000437801.6
      Conserved Domains (5) summary
      smart00179
      Location:605 → 639
      EGF_CA; Calcium-binding EGF-like domain
      smart00210
      Location:79 → 264
      TSPN; Thrombospondin N-terminal -like domains
      pfam07645
      Location:652 → 683
      EGF_CA; Calcium-binding EGF domain
      pfam12947
      Location:536 → 571
      EGF_3; EGF domain
      cl17735
      Location:324 → 380
      VWC; von Willebrand factor type C domain

    2. NM_001145108.2 → NP_001138580.1  protein kinase C-binding protein NELL2 isoform b precursor

      See identical proteins and their annotated locations for NP_001138580.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2 and 3 both encode isoform b.
      Source sequence(s)
      AL527608, BC020544, DA307194, DB316660
      Consensus CDS
      CCDS8746.1
      UniProtKB/Swiss-Prot
      B7Z2U7, B7Z5Q4, B7Z9J5, B7Z9U3, Q96JS2, Q99435
      UniProtKB/TrEMBL
      B7Z625
      Related
      ENSP00000390680.2, ENST00000429094.7
      Conserved Domains (5) summary
      smart00179
      Location:555 → 589
      EGF_CA; Calcium-binding EGF-like domain
      smart00210
      Location:29 → 214
      TSPN; Thrombospondin N-terminal -like domains
      pfam07645
      Location:602 → 633
      EGF_CA; Calcium-binding EGF domain
      pfam12947
      Location:486 → 521
      EGF_3; EGF domain
      cl17735
      Location:274 → 330
      VWC; von Willebrand factor type C domain

    3. NM_001145109.2 → NP_001138581.1  protein kinase C-binding protein NELL2 isoform c precursor

      See identical proteins and their annotated locations for NP_001138581.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (c) has a shorter and distinct N-terminus compared to isoform a.
      Source sequence(s)
      AK299277, D83018, DB316660
      Consensus CDS
      CCDS44864.1
      UniProtKB/TrEMBL
      F8VVB6
      Related
      ENSP00000378866.2, ENST00000395487.6
      Conserved Domains (5) summary
      smart00179
      Location:554 → 588
      EGF_CA; Calcium-binding EGF-like domain
      smart00210
      Location:28 → 213
      TSPN; Thrombospondin N-terminal -like domains
      pfam07645
      Location:601 → 632
      EGF_CA; Calcium-binding EGF domain
      pfam12947
      Location:485 → 520
      EGF_3; EGF domain
      cl17735
      Location:273 → 329
      VWC; von Willebrand factor type C domain

    4. NM_001145110.2 → NP_001138582.1  protein kinase C-binding protein NELL2 isoform d

      See identical proteins and their annotated locations for NP_001138582.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (d) has a shorter and distinct N-terminus compared to isoform a.
      Source sequence(s)
      AC079033, AK295125, AK316058, D83018, DB316660
      Consensus CDS
      CCDS53781.1
      UniProtKB/TrEMBL
      B7Z625
      Related
      ENSP00000327988.4, ENST00000333837.8
      Conserved Domains (5) summary
      smart00179
      Location:578 → 612
      EGF_CA; Calcium-binding EGF-like domain
      smart00210
      Location:52 → 237
      TSPN; Thrombospondin N-terminal -like domains
      pfam07645
      Location:625 → 656
      EGF_CA; Calcium-binding EGF domain
      pfam12947
      Location:509 → 544
      EGF_3; EGF domain
      cl17735
      Location:297 → 353
      VWC; von Willebrand factor type C domain

    5. NM_006159.2 → NP_006150.1  protein kinase C-binding protein NELL2 isoform b precursor

      See identical proteins and their annotated locations for NP_006150.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2 and 3 both encode isoform b.
      Source sequence(s)
      D83018, DA307194, DB316660
      Consensus CDS
      CCDS8746.1
      UniProtKB/Swiss-Prot
      B7Z2U7, B7Z5Q4, B7Z9J5, B7Z9U3, Q96JS2, Q99435
      UniProtKB/TrEMBL
      B7Z625
      Related
      ENSP00000394612.2, ENST00000452445.6
      Conserved Domains (5) summary
      smart00179
      Location:555 → 589
      EGF_CA; Calcium-binding EGF-like domain
      smart00210
      Location:29 → 214
      TSPN; Thrombospondin N-terminal -like domains
      pfam07645
      Location:602 → 633
      EGF_CA; Calcium-binding EGF domain
      pfam12947
      Location:486 → 521
      EGF_3; EGF domain
      cl17735
      Location:274 → 330
      VWC; von Willebrand factor type C domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      44508275..44921848 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011538396.2 → XP_011536698.1  protein kinase C-binding protein NELL2 isoform X1

      See identical proteins and their annotated locations for XP_011536698.1

      UniProtKB/Swiss-Prot
      B7Z2U7, B7Z5Q4, B7Z9J5, B7Z9U3, Q96JS2, Q99435
      UniProtKB/TrEMBL
      B7Z625
      Conserved Domains (5) summary
      smart00179
      Location:555 → 589
      EGF_CA; Calcium-binding EGF-like domain
      smart00210
      Location:29 → 214
      TSPN; Thrombospondin N-terminal -like domains
      pfam07645
      Location:602 → 633
      EGF_CA; Calcium-binding EGF domain
      pfam12947
      Location:486 → 521
      EGF_3; EGF domain
      cl17735
      Location:274 → 330
      VWC; von Willebrand factor type C domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      44466949..44872599 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054372112.1 → XP_054228087.1  protein kinase C-binding protein NELL2 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q99435.1 GenPept UniProtKB/Swiss-Prot:Q99435

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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