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Protein

Protein kinase C-binding protein NELL2

Gene

NELL2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

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).By similarity

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Ligandi

Calcium

Names & Taxonomyi

Protein namesi
Recommended name:
Protein kinase C-binding protein NELL2
Alternative name(s):
NEL-like protein 2
Nel-related protein 2
Gene namesi
Name:NELL2
Synonyms:NRP2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

HGNCiHGNC:7751. NELL2.

Subcellular locationi

  • Secreted By similarity

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Organism-specific databases

DisGeNETi4753.
OpenTargetsiENSG00000184613.
PharmGKBiPA31553.

Polymorphism and mutation databases

BioMutaiNELL2.
DMDMi2494289.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 21Add BLAST21
ChainiPRO_000000766622 – 816Protein kinase C-binding protein NELL2Add BLAST795

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi53N-linked (GlcNAc...)Sequence analysis1
Glycosylationi225N-linked (GlcNAc...)Sequence analysis1
Glycosylationi293N-linked (GlcNAc...)Sequence analysis1
Glycosylationi298N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi401 ↔ 413PROSITE-ProRule annotation
Disulfide bondi407 ↔ 422PROSITE-ProRule annotation
Disulfide bondi424 ↔ 438PROSITE-ProRule annotation
Disulfide bondi444 ↔ 457PROSITE-ProRule annotation
Disulfide bondi451 ↔ 466PROSITE-ProRule annotation
Disulfide bondi468 ↔ 480PROSITE-ProRule annotation
Disulfide bondi486 ↔ 499PROSITE-ProRule annotation
Disulfide bondi493 ↔ 508PROSITE-ProRule annotation
Disulfide bondi510 ↔ 521PROSITE-ProRule annotation
Glycosylationi517N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi525 ↔ 535PROSITE-ProRule annotation
Disulfide bondi529 ↔ 541PROSITE-ProRule annotation
Disulfide bondi543 ↔ 552PROSITE-ProRule annotation
Disulfide bondi559 ↔ 572PROSITE-ProRule annotation
Disulfide bondi566 ↔ 581PROSITE-ProRule annotation
Disulfide bondi583 ↔ 600PROSITE-ProRule annotation
Disulfide bondi606 ↔ 619PROSITE-ProRule annotation
Disulfide bondi613 ↔ 628PROSITE-ProRule annotation
Glycosylationi615N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi630 ↔ 636PROSITE-ProRule annotation
Glycosylationi635N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ99435.
PeptideAtlasiQ99435.
PRIDEiQ99435.

PTM databases

iPTMnetiQ99435.
PhosphoSitePlusiQ99435.

Expressioni

Gene expression databases

BgeeiENSG00000184613.
CleanExiHS_NELL2.
HS_NRP2.
ExpressionAtlasiQ99435. baseline and differential.
GenevisibleiQ99435. HS.

Organism-specific databases

HPAiHPA035715.

Interactioni

Subunit structurei

Homotrimer. Binds to PKC beta-1 (By similarity).By similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
GFI1BQ5VTD92EBI-946274,EBI-946212

Protein-protein interaction databases

BioGridi110828. 33 interactors.
DIPiDIP-49927N.
IntActiQ99435. 9 interactors.
MINTiMINT-2856232.
STRINGi9606.ENSP00000416341.

Structurei

3D structure databases

ProteinModelPortaliQ99435.
SMRiQ99435.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini64 – 228Laminin G-likeAdd BLAST165
Domaini272 – 331VWFC 1PROSITE-ProRule annotationAdd BLAST60
Domaini397 – 439EGF-like 1PROSITE-ProRule annotationAdd BLAST43
Domaini440 – 481EGF-like 2; calcium-bindingPROSITE-ProRule annotationAdd BLAST42
Domaini482 – 522EGF-like 3; calcium-bindingPROSITE-ProRule annotationAdd BLAST41
Domaini523 – 553EGF-like 4PROSITE-ProRule annotationAdd BLAST31
Domaini555 – 601EGF-like 5; calcium-bindingPROSITE-ProRule annotationAdd BLAST47
Domaini602 – 637EGF-like 6; calcium-bindingPROSITE-ProRule annotationAdd BLAST36
Domaini638 – 693VWFC 2PROSITE-ProRule annotationAdd BLAST56
Domaini698 – 756VWFC 3PROSITE-ProRule annotationAdd BLAST59

Sequence similaritiesi

Contains 6 EGF-like domains.PROSITE-ProRule annotation
Contains 1 laminin G-like domain.Curated
Contains 3 VWFC domains.PROSITE-ProRule annotation

Keywords - Domaini

EGF-like domain, Repeat, Signal

Phylogenomic databases

eggNOGiENOG410IR7C. Eukaryota.
ENOG410XSZA. LUCA.
GeneTreeiENSGT00810000125439.
HOGENOMiHOG000217920.
HOVERGENiHBG004805.
InParanoidiQ99435.
OMAiSHHPHTE.
OrthoDBiEOG091G01DI.
PhylomeDBiQ99435.
TreeFamiTF323325.

Family and domain databases

Gene3Di2.60.120.200. 1 hit.
InterProiIPR013320. ConA-like_dom.
IPR001881. EGF-like_Ca-bd_dom.
IPR013032. EGF-like_CS.
IPR000742. EGF-like_dom.
IPR000152. EGF-type_Asp/Asn_hydroxyl_site.
IPR018097. EGF_Ca-bd_CS.
IPR009030. Growth_fac_rcpt_.
IPR001791. Laminin_G.
IPR001007. VWF_dom.
[Graphical view]
PfamiPF07645. EGF_CA. 4 hits.
PF02210. Laminin_G_2. 1 hit.
PF00093. VWC. 2 hits.
[Graphical view]
SMARTiSM00181. EGF. 6 hits.
SM00179. EGF_CA. 5 hits.
SM00282. LamG. 1 hit.
SM00210. TSPN. 1 hit.
SM00214. VWC. 3 hits.
SM00215. VWC_out. 2 hits.
[Graphical view]
SUPFAMiSSF49899. SSF49899. 1 hit.
SSF57184. SSF57184. 1 hit.
PROSITEiPS00010. ASX_HYDROXYL. 3 hits.
PS00022. EGF_1. 1 hit.
PS01186. EGF_2. 4 hits.
PS50026. EGF_3. 6 hits.
PS01187. EGF_CA. 3 hits.
PS01208. VWFC_1. 2 hits.
PS50184. VWFC_2. 3 hits.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q99435-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MESRVLLRTF CLIFGLGAVW GLGVDPSLQI DVLTELELGE STTGVRQVPG
60 70 80 90 100
LHNGTKAFLF QDTPRSIKAS TATAEQFFQK LRNKHEFTIL VTLKQTHLNS
110 120 130 140 150
GVILSIHHLD HRYLELESSG HRNEVRLHYR SGSHRPHTEV FPYILADDKW
160 170 180 190 200
HKLSLAISAS HLILHIDCNK IYERVVEKPS TDLPLGTTFW LGQRNNAHGY
210 220 230 240 250
FKGIMQDVQL LVMPQGFIAQ CPDLNRTCPT CNDFHGLVQK IMELQDILAK
260 270 280 290 300
TSAKLSRAEQ RMNRLDQCYC ERTCTMKGTT YREFESWIDG CKNCTCLNGT
310 320 330 340 350
IQCETLICPN PDCPLKSALA YVDGKCCKEC KSICQFQGRT YFEGERNTVY
360 370 380 390 400
SSSGVCVLYE CKDQTMKLVE SSGCPALDCP ESHQITLSHS CCKVCKGYDF
410 420 430 440 450
CSERHNCMEN SICRNLNDRA VCSCRDGFRA LREDNAYCED IDECAEGRHY
460 470 480 490 500
CRENTMCVNT PGSFMCICKT GYIRIDDYSC TEHDECITNQ HNCDENALCF
510 520 530 540 550
NTVGGHNCVC KPGYTGNGTT CKAFCKDGCR NGGACIAANV CACPQGFTGP
560 570 580 590 600
SCETDIDECS DGFVQCDSRA NCINLPGWYH CECRDGYHDN GMFSPSGESC
610 620 630 640 650
EDIDECGTGR HSCANDTICF NLDGGYDCRC PHGKNCTGDC IHDGKVKHNG
660 670 680 690 700
QIWVLENDRC SVCSCQNGFV MCRRMVCDCE NPTVDLFCCP ECDPRLSSQC
710 720 730 740 750
LHQNGETLYN SGDTWVQNCQ QCRCLQGEVD CWPLPCPDVE CEFSILPENE
760 770 780 790 800
CCPRCVTDPC QADTIRNDIT KTCLDEMNVV RFTGSSWIKH GTECTLCQCK
810
NGHICCSVDP QCLQEL
Length:816
Mass (Da):91,346
Last modified:May 1, 1997 - v1
Checksum:i89370B987DC7A324
GO
Isoform 2 (identifier: Q99435-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MSIRRLLILILKIGRRWTELIRTM

Note: No experimental confirmation available.
Show »
Length:839
Mass (Da):94,180
Checksum:iE7A4531EAB965749
GO
Isoform 3 (identifier: Q99435-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MGFPPLLKGQASATRSSLASCSWVVFFLSCLSRHAPEIEGGRRWTELIRTM

Note: No experimental confirmation available.
Show »
Length:866
Mass (Da):96,880
Checksum:i87C3D940EEC2BC68
GO
Isoform 4 (identifier: Q99435-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-18: MESRVLLRTFCLIFGLGA → METGLGAPLFKAWLLIS

Show »
Length:815
Mass (Da):91,167
Checksum:i907D0AC0BD4B85D1
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti353S → P in BAH12990 (PubMed:14702039).Curated1
Sequence conflicti454N → D in BAH12990 (PubMed:14702039).Curated1
Sequence conflicti489N → D in BAH14331 (PubMed:14702039).Curated1
Sequence conflicti636C → S in BAH14331 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0489875V → I.Corresponds to variant rs2658973dbSNPEnsembl.1
Natural variantiVAR_048988347N → D.Corresponds to variant rs17574839dbSNPEnsembl.1
Natural variantiVAR_048989631P → L.Corresponds to variant rs1050710dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0438691 – 18MESRV…FGLGA → METGLGAPLFKAWLLIS in isoform 4. 2 PublicationsAdd BLAST18
Alternative sequenceiVSP_0438011M → MSIRRLLILILKIGRRWTEL IRTM in isoform 2. 1 Publication1
Alternative sequenceiVSP_0438021M → MGFPPLLKGQASATRSSLAS CSWVVFFLSCLSRHAPEIEG GRRWTELIRTM in isoform 3. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D83018 mRNA. Translation: BAA11681.1.
D89629 mRNA. Translation: BAB46925.1.
AK295125 mRNA. Translation: BAH11983.1.
AK299277 mRNA. Translation: BAH12990.1.
AK315960 mRNA. Translation: BAH14331.1.
AK316058 mRNA. Translation: BAH14429.1.
AC018923 Genomic DNA. No translation available.
AC025253 Genomic DNA. No translation available.
AC079033 Genomic DNA. No translation available.
AC079825 Genomic DNA. No translation available.
AC090012 Genomic DNA. No translation available.
CH471111 Genomic DNA. Translation: EAW57873.1.
BC020544 mRNA. Translation: AAH20544.1.
CCDSiCCDS44863.1. [Q99435-3]
CCDS44864.1. [Q99435-4]
CCDS53781.1. [Q99435-2]
CCDS8746.1. [Q99435-1]
RefSeqiNP_001138579.1. NM_001145107.1. [Q99435-3]
NP_001138580.1. NM_001145108.1. [Q99435-1]
NP_001138581.1. NM_001145109.1. [Q99435-4]
NP_001138582.1. NM_001145110.1. [Q99435-2]
NP_006150.1. NM_006159.2. [Q99435-1]
XP_005268962.1. XM_005268905.3. [Q99435-1]
XP_011536698.1. XM_011538396.1. [Q99435-1]
UniGeneiHs.505326.

Genome annotation databases

EnsembliENST00000333837; ENSP00000327988; ENSG00000184613. [Q99435-2]
ENST00000395487; ENSP00000378866; ENSG00000184613. [Q99435-4]
ENST00000429094; ENSP00000390680; ENSG00000184613. [Q99435-1]
ENST00000437801; ENSP00000416341; ENSG00000184613. [Q99435-3]
ENST00000452445; ENSP00000394612; ENSG00000184613. [Q99435-1]
ENST00000549027; ENSP00000447927; ENSG00000184613. [Q99435-4]
GeneIDi4753.
KEGGihsa:4753.
UCSCiuc001rof.4. human. [Q99435-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D83018 mRNA. Translation: BAA11681.1.
D89629 mRNA. Translation: BAB46925.1.
AK295125 mRNA. Translation: BAH11983.1.
AK299277 mRNA. Translation: BAH12990.1.
AK315960 mRNA. Translation: BAH14331.1.
AK316058 mRNA. Translation: BAH14429.1.
AC018923 Genomic DNA. No translation available.
AC025253 Genomic DNA. No translation available.
AC079033 Genomic DNA. No translation available.
AC079825 Genomic DNA. No translation available.
AC090012 Genomic DNA. No translation available.
CH471111 Genomic DNA. Translation: EAW57873.1.
BC020544 mRNA. Translation: AAH20544.1.
CCDSiCCDS44863.1. [Q99435-3]
CCDS44864.1. [Q99435-4]
CCDS53781.1. [Q99435-2]
CCDS8746.1. [Q99435-1]
RefSeqiNP_001138579.1. NM_001145107.1. [Q99435-3]
NP_001138580.1. NM_001145108.1. [Q99435-1]
NP_001138581.1. NM_001145109.1. [Q99435-4]
NP_001138582.1. NM_001145110.1. [Q99435-2]
NP_006150.1. NM_006159.2. [Q99435-1]
XP_005268962.1. XM_005268905.3. [Q99435-1]
XP_011536698.1. XM_011538396.1. [Q99435-1]
UniGeneiHs.505326.

3D structure databases

ProteinModelPortaliQ99435.
SMRiQ99435.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110828. 33 interactors.
DIPiDIP-49927N.
IntActiQ99435. 9 interactors.
MINTiMINT-2856232.
STRINGi9606.ENSP00000416341.

PTM databases

iPTMnetiQ99435.
PhosphoSitePlusiQ99435.

Polymorphism and mutation databases

BioMutaiNELL2.
DMDMi2494289.

Proteomic databases

PaxDbiQ99435.
PeptideAtlasiQ99435.
PRIDEiQ99435.

Protocols and materials databases

DNASUi4753.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000333837; ENSP00000327988; ENSG00000184613. [Q99435-2]
ENST00000395487; ENSP00000378866; ENSG00000184613. [Q99435-4]
ENST00000429094; ENSP00000390680; ENSG00000184613. [Q99435-1]
ENST00000437801; ENSP00000416341; ENSG00000184613. [Q99435-3]
ENST00000452445; ENSP00000394612; ENSG00000184613. [Q99435-1]
ENST00000549027; ENSP00000447927; ENSG00000184613. [Q99435-4]
GeneIDi4753.
KEGGihsa:4753.
UCSCiuc001rof.4. human. [Q99435-1]

Organism-specific databases

CTDi4753.
DisGeNETi4753.
GeneCardsiNELL2.
HGNCiHGNC:7751. NELL2.
HPAiHPA035715.
MIMi602320. gene.
neXtProtiNX_Q99435.
OpenTargetsiENSG00000184613.
PharmGKBiPA31553.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IR7C. Eukaryota.
ENOG410XSZA. LUCA.
GeneTreeiENSGT00810000125439.
HOGENOMiHOG000217920.
HOVERGENiHBG004805.
InParanoidiQ99435.
OMAiSHHPHTE.
OrthoDBiEOG091G01DI.
PhylomeDBiQ99435.
TreeFamiTF323325.

Miscellaneous databases

ChiTaRSiNELL2. human.
GeneWikiiNELL2.
GenomeRNAii4753.
PROiQ99435.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000184613.
CleanExiHS_NELL2.
HS_NRP2.
ExpressionAtlasiQ99435. baseline and differential.
GenevisibleiQ99435. HS.

Family and domain databases

Gene3Di2.60.120.200. 1 hit.
InterProiIPR013320. ConA-like_dom.
IPR001881. EGF-like_Ca-bd_dom.
IPR013032. EGF-like_CS.
IPR000742. EGF-like_dom.
IPR000152. EGF-type_Asp/Asn_hydroxyl_site.
IPR018097. EGF_Ca-bd_CS.
IPR009030. Growth_fac_rcpt_.
IPR001791. Laminin_G.
IPR001007. VWF_dom.
[Graphical view]
PfamiPF07645. EGF_CA. 4 hits.
PF02210. Laminin_G_2. 1 hit.
PF00093. VWC. 2 hits.
[Graphical view]
SMARTiSM00181. EGF. 6 hits.
SM00179. EGF_CA. 5 hits.
SM00282. LamG. 1 hit.
SM00210. TSPN. 1 hit.
SM00214. VWC. 3 hits.
SM00215. VWC_out. 2 hits.
[Graphical view]
SUPFAMiSSF49899. SSF49899. 1 hit.
SSF57184. SSF57184. 1 hit.
PROSITEiPS00010. ASX_HYDROXYL. 3 hits.
PS00022. EGF_1. 1 hit.
PS01186. EGF_2. 4 hits.
PS50026. EGF_3. 6 hits.
PS01187. EGF_CA. 3 hits.
PS01208. VWFC_1. 2 hits.
PS50184. VWFC_2. 3 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiNELL2_HUMAN
AccessioniPrimary (citable) accession number: Q99435
Secondary accession number(s): B7Z2U7
, B7Z5Q4, B7Z9J5, B7Z9U3, Q96JS2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: May 1, 1997
Last modified: November 2, 2016
This is version 153 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.