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

Gene ID: 4753, updated on 7-Jun-2020

Summary

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
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

Genomic context

See NELL2 in Genome Data Viewer
Location:
12q12
Exon count:
26
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (44508275..44921848, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (44902058..45307711, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene transmembrane protein 117 Neighboring gene zinc finger protein 75B, pseudogene Neighboring gene IQ motif containing F1 pseudogene Neighboring gene uncharacterized LOC105369742 Neighboring gene Rac GTPase activating protein 1 pseudogene 1 Neighboring gene developing brain homeobox 2

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
heparin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase C binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
neuron cellular homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular region IEA
Inferred from Electronic Annotation
more info
 

General protein information

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)

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_001145107.1NP_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)
    AK299733, D83018, DB316660
    Consensus CDS
    CCDS44863.1
    UniProtKB/Swiss-Prot
    Q99435
    UniProtKB/TrEMBL
    B7Z625
    Related
    ENSP00000416341.2, ENST00000437801.6
    Conserved Domains (5) summary
    smart00179
    Location:605639
    EGF_CA; Calcium-binding EGF-like domain
    smart00210
    Location:79264
    TSPN; Thrombospondin N-terminal -like domains
    pfam07645
    Location:652683
    EGF_CA; Calcium-binding EGF domain
    pfam12947
    Location:536571
    EGF_3; EGF domain
    cl17735
    Location:324380
    VWC; von Willebrand factor type C domain
  2. NM_001145108.2NP_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
    Q99435
    UniProtKB/TrEMBL
    A0A024R0X1
    Related
    ENSP00000390680.2, ENST00000429094.6
    Conserved Domains (5) summary
    smart00179
    Location:555589
    EGF_CA; Calcium-binding EGF-like domain
    smart00210
    Location:29214
    TSPN; Thrombospondin N-terminal -like domains
    pfam07645
    Location:602633
    EGF_CA; Calcium-binding EGF domain
    pfam12947
    Location:486521
    EGF_3; EGF domain
    cl17735
    Location:274330
    VWC; von Willebrand factor type C domain
  3. NM_001145109.1NP_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, DC314160
    Consensus CDS
    CCDS44864.1
    UniProtKB/Swiss-Prot
    Q99435
    Related
    ENSP00000378866.2, ENST00000395487.6
    Conserved Domains (5) summary
    smart00179
    Location:554588
    EGF_CA; Calcium-binding EGF-like domain
    smart00210
    Location:28213
    TSPN; Thrombospondin N-terminal -like domains
    pfam07645
    Location:601632
    EGF_CA; Calcium-binding EGF domain
    pfam12947
    Location:485520
    EGF_3; EGF domain
    cl17735
    Location:273329
    VWC; von Willebrand factor type C domain
  4. NM_001145110.1NP_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)
    AK295125, AK316058, D83018, DB316660
    Consensus CDS
    CCDS53781.1
    UniProtKB/Swiss-Prot
    Q99435
    Related
    ENSP00000327988.4, ENST00000333837.8
    Conserved Domains (5) summary
    smart00179
    Location:578612
    EGF_CA; Calcium-binding EGF-like domain
    smart00210
    Location:52237
    TSPN; Thrombospondin N-terminal -like domains
    pfam07645
    Location:625656
    EGF_CA; Calcium-binding EGF domain
    pfam12947
    Location:509544
    EGF_3; EGF domain
    cl17735
    Location:297353
    VWC; von Willebrand factor type C domain
  5. NM_006159.2NP_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
    Q99435
    UniProtKB/TrEMBL
    A0A024R0X1
    Related
    ENSP00000394612.2, ENST00000452445.6
    Conserved Domains (5) summary
    smart00179
    Location:555589
    EGF_CA; Calcium-binding EGF-like domain
    smart00210
    Location:29214
    TSPN; Thrombospondin N-terminal -like domains
    pfam07645
    Location:602633
    EGF_CA; Calcium-binding EGF domain
    pfam12947
    Location:486521
    EGF_3; EGF domain
    cl17735
    Location:274330
    VWC; von Willebrand factor type C domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011538396.1XP_011536698.1  protein kinase C-binding protein NELL2 isoform X3

    See identical proteins and their annotated locations for XP_011536698.1

    UniProtKB/Swiss-Prot
    Q99435
    UniProtKB/TrEMBL
    A0A024R0X1
    Conserved Domains (5) summary
    smart00179
    Location:555589
    EGF_CA; Calcium-binding EGF-like domain
    smart00210
    Location:29214
    TSPN; Thrombospondin N-terminal -like domains
    pfam07645
    Location:602633
    EGF_CA; Calcium-binding EGF domain
    pfam12947
    Location:486521
    EGF_3; EGF domain
    cl17735
    Location:274330
    VWC; von Willebrand factor type C domain
  2. XM_017019344.1XP_016874833.1  protein kinase C-binding protein NELL2 isoform X2

  3. XM_005268905.3XP_005268962.1  protein kinase C-binding protein NELL2 isoform X3

    See identical proteins and their annotated locations for XP_005268962.1

    UniProtKB/Swiss-Prot
    Q99435
    UniProtKB/TrEMBL
    A0A024R0X1
    Conserved Domains (5) summary
    smart00179
    Location:555589
    EGF_CA; Calcium-binding EGF-like domain
    smart00210
    Location:29214
    TSPN; Thrombospondin N-terminal -like domains
    pfam07645
    Location:602633
    EGF_CA; Calcium-binding EGF domain
    pfam12947
    Location:486521
    EGF_3; EGF domain
    cl17735
    Location:274330
    VWC; von Willebrand factor type C domain
  4. XM_017019343.1XP_016874832.1  protein kinase C-binding protein NELL2 isoform X2

  5. XM_017019341.2XP_016874830.1  protein kinase C-binding protein NELL2 isoform X1

  6. XM_017019342.2XP_016874831.1  protein kinase C-binding protein NELL2 isoform X2

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