Human Gene NELL2 (ENST00000429094.7_7) from GENCODE V47lift37
  Description: neural EGFL like 2, transcript variant 3 (from RefSeq NM_001145108.2)
Gencode Transcript: ENST00000429094.7_7
Gencode Gene: ENSG00000184613.11_15
Transcript (Including UTRs)
   Position: hg19 chr12:44,902,061-45,270,098 Size: 368,038 Total Exon Count: 20 Strand: -
Coding Region
   Position: hg19 chr12:44,902,717-45,269,652 Size: 366,936 Coding Exon Count: 20 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:44,902,061-45,270,098)mRNA (may differ from genome)Protein (816 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: NELL2_HUMAN
DESCRIPTION: RecName: Full=Protein kinase C-binding protein NELL2; AltName: Full=NEL-like protein 2; AltName: Full=Nel-related protein 2; Flags: Precursor;
SUBUNIT: Homotrimer. Binds to PKC beta-1 (By similarity).
INTERACTION: Q5VTD9:GFI1B; NbExp=2; IntAct=EBI-946274, EBI-946212;
SUBCELLULAR LOCATION: Secreted (By similarity).
SIMILARITY: Contains 6 EGF-like domains.
SIMILARITY: Contains 1 laminin G-like domain.
SIMILARITY: Contains 3 VWFC domains.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: NELL2
Diseases sorted by gene-association score: tuberculous meningitis (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 47.65 RPKM in Brain - Frontal Cortex (BA9)
Total median expression: 266.31 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -182.80446-0.410 Picture PostScript Text
3' UTR -143.00656-0.218 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR008985 - ConA-like_lec_gl_sf
IPR013320 - ConA-like_subgrp
IPR000742 - EG-like_dom
IPR001881 - EGF-like_Ca-bd
IPR013032 - EGF-like_CS
IPR000152 - EGF-type_Asp/Asn_hydroxyl_site
IPR018097 - EGF_Ca-bd_CS
IPR001791 - Laminin_G
IPR001007 - VWF_C

Pfam Domains:
PF00008 - EGF-like domain
PF00093 - von Willebrand factor type C domain
PF02210 - Laminin G domain
PF07645 - Calcium-binding EGF domain
PF12661 - Human growth factor-like EGF
PF12662 - Complement Clr-like EGF-like
PF12947 - EGF domain

SCOP Domains:
49899 - Concanavalin A-like lectins/glucanases
57603 - FnI-like domain
57196 - EGF/Laminin
57184 - Growth factor receptor domain

ModBase Predicted Comparative 3D Structure on Q99435
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005509 calcium ion binding
GO:0005515 protein binding

Biological Process:
GO:0070050 neuron cellular homeostasis

Cellular Component:
GO:0005576 extracellular region
GO:0005623 cell


-  Descriptions from all associated GenBank mRNAs
  BC020544 - Homo sapiens NEL-like 2 (chicken), mRNA (cDNA clone MGC:21213 IMAGE:4399991), complete cds.
AK309825 - Homo sapiens cDNA, FLJ99866.
D83018 - Homo sapiens mRNA for nel-related protein 2, complete cds.
AK095637 - Homo sapiens cDNA FLJ38318 fis, clone FCBBF3023887, highly similar to Protein kinase C-binding protein NELL2 precursor.
AK315960 - Homo sapiens cDNA, FLJ78859 complete cds, highly similar to Protein kinase C-binding protein NELL2 precursor.
AK295125 - Homo sapiens cDNA FLJ56077 complete cds, highly similar to Protein kinase C-binding protein NELL2 precursor.
AK316058 - Homo sapiens cDNA, FLJ78957 complete cds, highly similar to Protein kinase C-binding protein NELL2 precursor.
AK299733 - Homo sapiens cDNA FLJ55521 complete cds, highly similar to Protein kinase C-binding protein NELL2 precursor.
AK299277 - Homo sapiens cDNA FLJ53170 complete cds, highly similar to Protein kinase C-binding protein NELL2 precursor.
D89629 - Homo sapiens hucep-12 mRNA for cerebral protein-12, complete cds.
KJ891689 - Synthetic construct Homo sapiens clone ccsbBroadEn_01083 NELL2 gene, encodes complete protein.
AK297521 - Homo sapiens cDNA FLJ60303 complete cds, highly similar to Protein kinase C-binding protein NELL2 precursor.
AK056082 - Homo sapiens cDNA FLJ31520 fis, clone NT2RI2000173, highly similar to PROTEIN KINASE C-BINDING PROTEIN NELL2 PRECURSOR.
AK055385 - Homo sapiens cDNA FLJ30823 fis, clone FEBRA2001659.
JD561938 - Sequence 542962 from Patent EP1572962.
JD090803 - Sequence 71827 from Patent EP1572962.
JD314738 - Sequence 295762 from Patent EP1572962.
JD154844 - Sequence 135868 from Patent EP1572962.
JD493939 - Sequence 474963 from Patent EP1572962.
JD172841 - Sequence 153865 from Patent EP1572962.
JD551516 - Sequence 532540 from Patent EP1572962.
JD298327 - Sequence 279351 from Patent EP1572962.
JD125199 - Sequence 106223 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q99435 (Reactome details) participates in the following event(s):

R-HSA-9010190 ROBO3 binds NELL2
R-HSA-428542 Regulation of commissural axon pathfinding by SLIT and ROBO
R-HSA-376176 Signaling by ROBO receptors
R-HSA-422475 Axon guidance
R-HSA-1266738 Developmental Biology

-  Other Names for This Gene
  Alternate Gene Symbols: B7Z2U7, B7Z5Q4, B7Z9J5, B7Z9U3, ENST00000429094.1, ENST00000429094.2, ENST00000429094.3, ENST00000429094.4, ENST00000429094.5, ENST00000429094.6, NELL2 , NELL2_HUMAN, NM_001145108, NRP2, Q96JS2, Q99435, uc319yas.1, uc319yas.2
UCSC ID: ENST00000429094.7_7
RefSeq Accession: NM_001145108.2
Protein: Q99435 (aka NELL2_HUMAN or NEL2_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.