Q99435 (NELL2_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 29, 2013.
Version 123.
History...
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Protein kinase C-binding protein NELL2 Alternative name(s): NEL-like protein 2 Nel-related protein 2 | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 816 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Subunit structure | Homotrimer. Binds to PKC beta-1 By similarity. |
| Subcellular location | Secreted By similarity. |
| Sequence similarities | Contains 6 EGF-like domains. Contains 1 laminin G-like domain. Contains 3 VWFC domains. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Secreted |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | EGF-like domain Repeat Signal |
| Ligand | Calcium |
| PTM | Disulfide bond Glycoprotein |
| Technical term | Complete proteome Direct protein sequencing Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | cell adhesion Non-traceable author statement. Source: UniProtKB |
| Cellular_component | extracellular region Non-traceable author statement. Source: UniProtKB |
| Molecular_function | calcium ion binding Non-traceable author statement. Source: UniProtKB structural molecule activityNon-traceable author statement. Source: UniProtKB |
| Complete GO annotation... | |
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| GFI1B | Q5VTD9 | 2 | EBI-946274,EBI-946212 |
Alternative products
| This entry describes 4 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q99435-1) 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. | ||||||
| Isoform 2 (identifier: Q99435-2) The sequence of this isoform differs from the canonical sequence as follows: 1-1: M → MSIRRLLILILKIGRRWTELIRTM | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 3 (identifier: Q99435-3) The sequence of this isoform differs from the canonical sequence as follows: 1-1: M → MGFPPLLKGQASATRSSLASCSWVVFFLSCLSRHAPEIEGGRRWTELIRTM | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 4 (identifier: Q99435-4) The sequence of this isoform differs from the canonical sequence as follows: 1-18: MESRVLLRTFCLIFGLGA → METGLGAPLFKAWLLIS |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||||
Molecule processing | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Signal peptide | 1 – 21 | 21 | Ref.7 | ||||||||
| Chain | 22 – 816 | 795 | Protein kinase C-binding protein NELL2 | PRO_0000007666 | |||||||
Regions | |||||||||||
| Domain | 64 – 228 | 165 | Laminin G-like | ||||||||
| Domain | 272 – 331 | 60 | VWFC 1 | ||||||||
| Domain | 397 – 439 | 43 | EGF-like 1 | ||||||||
| Domain | 440 – 481 | 42 | EGF-like 2; calcium-binding Potential | ||||||||
| Domain | 482 – 522 | 41 | EGF-like 3; calcium-binding Potential | ||||||||
| Domain | 523 – 553 | 31 | EGF-like 4 | ||||||||
| Domain | 555 – 601 | 47 | EGF-like 5; calcium-binding Potential | ||||||||
| Domain | 602 – 637 | 36 | EGF-like 6; calcium-binding Potential | ||||||||
| Domain | 638 – 693 | 56 | VWFC 2 | ||||||||
| Domain | 698 – 756 | 59 | VWFC 3 | ||||||||
Amino acid modifications | |||||||||||
| Glycosylation | 53 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 225 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 293 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 298 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 517 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 615 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 635 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Disulfide bond | 401 ↔ 413 | By similarity | |||||||||
| Disulfide bond | 407 ↔ 422 | By similarity | |||||||||
| Disulfide bond | 424 ↔ 438 | By similarity | |||||||||
| Disulfide bond | 444 ↔ 457 | By similarity | |||||||||
| Disulfide bond | 451 ↔ 466 | By similarity | |||||||||
| Disulfide bond | 468 ↔ 480 | By similarity | |||||||||
| Disulfide bond | 486 ↔ 499 | By similarity | |||||||||
| Disulfide bond | 493 ↔ 508 | By similarity | |||||||||
| Disulfide bond | 510 ↔ 521 | By similarity | |||||||||
| Disulfide bond | 525 ↔ 535 | By similarity | |||||||||
| Disulfide bond | 529 ↔ 541 | By similarity | |||||||||
| Disulfide bond | 543 ↔ 552 | By similarity | |||||||||
| Disulfide bond | 559 ↔ 572 | By similarity | |||||||||
| Disulfide bond | 566 ↔ 581 | By similarity | |||||||||
| Disulfide bond | 583 ↔ 600 | By similarity | |||||||||
| Disulfide bond | 606 ↔ 619 | By similarity | |||||||||
| Disulfide bond | 613 ↔ 628 | By similarity | |||||||||
| Disulfide bond | 630 ↔ 636 | By similarity | |||||||||
Natural variations | |||||||||||
| Alternative sequence | 1 – 18 | 18 | MESRV…FGLGA → METGLGAPLFKAWLLIS in isoform 4. | VSP_043869 | |||||||
| Alternative sequence | 1 | 1 | M → MSIRRLLILILKIGRRWTEL IRTM in isoform 2. | VSP_043801 | |||||||
| Alternative sequence | 1 | 1 | M → MGFPPLLKGQASATRSSLAS CSWVVFFLSCLSRHAPEIEG GRRWTELIRTM in isoform 3. | VSP_043802 | |||||||
| Natural variant | 5 | 1 | V → I. Corresponds to variant rs2658973 [ dbSNP | Ensembl ]. | VAR_048987 | |||||||
| Natural variant | 347 | 1 | N → D. Corresponds to variant rs17574839 [ dbSNP | Ensembl ]. | VAR_048988 | |||||||
| Natural variant | 631 | 1 | P → L. Corresponds to variant rs1050710 [ dbSNP | Ensembl ]. | VAR_048989 | |||||||
Experimental info | |||||||||||
| Sequence conflict | 353 | 1 | S → P in BAH12990. Ref.3 | ||||||||
| Sequence conflict | 454 | 1 | N → D in BAH12990. Ref.3 | ||||||||
| Sequence conflict | 489 | 1 | N → D in BAH14331. Ref.3 | ||||||||
| Sequence conflict | 636 | 1 | C → S in BAH14331. Ref.3 | ||||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Cloning and characterization of two novel human cDNAs (NELL1 and NELL2) encoding proteins with six EGF-like repeats." Watanabe T.K., Katagiri T., Suzuki M., Shimizu F., Fujiwara T., Kanemoto N., Nakamura Y., Hirai Y., Maekawa H., Takahashi E. Genomics 38:273-276(1996) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). Tissue: Brain. |
| [2] | "Biological functions of a novel human gene, hucep-12, which is specifically expressed in the central nervous system." Yoshimoto M., Yazaki M., Takayama K., Matsumoto K. Submitted (NOV-1996) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4). Tissue: Brain. |
| [3] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2; 3 AND 4). Tissue: Amygdala, Brain and Hippocampus. |
| [4] | "The finished DNA sequence of human chromosome 12." Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R. Gibbs R.A.Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [6] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Duodenum. |
| [7] | "Signal peptide prediction based on analysis of experimentally verified cleavage sites." Zhang Z., Henzel W.J. Protein Sci. 13:2819-2824(2004) [PubMed] [Europe PMC] [Abstract] Cited for: PROTEIN SEQUENCE OF 22-36 (ISOFORM 1). |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | 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. |
| IPI | IPI00015260. IPI00921881. IPI00922434. IPI01021725. |
| RefSeq | NP_001138579.1. NM_001145107.1. NP_001138580.1. NM_001145108.1. NP_001138581.1. NM_001145109.1. NP_001138582.1. NM_001145110.1. NP_006150.1. NM_006159.2. |
| UniGene | Hs.505326. |
3D structure databases | |
| ProteinModelPortal | Q99435. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q99435. 7 interactions. |
| MINT | MINT-2856232. |
| STRING | 9606.ENSP00000416341. |
Polymorphism databases | |
| DMDM | 2494289. |
Proteomic databases | |
| PaxDb | Q99435. |
| PRIDE | Q99435. |
Protocols and materials databases | |
| DNASU | 4753. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000333837; ENSP00000327988; ENSG00000184613. ENST00000395487; ENSP00000378866; ENSG00000184613. ENST00000429094; ENSP00000390680; ENSG00000184613. ENST00000437801; ENSP00000416341; ENSG00000184613. ENST00000452445; ENSP00000394612; ENSG00000184613. ENST00000549027; ENSP00000447927; ENSG00000184613. |
| GeneID | 4753. |
| KEGG | hsa:4753. |
| UCSC | uc001rof.3. human. uc001rog.2. human. uc010skz.1. human. uc010sla.1. human. |
Organism-specific databases | |
| CTD | 4753. |
| GeneCards | GC12M044981. |
| HGNC | HGNC:7751. NELL2. |
| HPA | HPA035715. |
| MIM | 602320. gene. |
| neXtProt | NX_Q99435. |
| PharmGKB | PA31553. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG253557. |
| HOGENOM | HOG000217920. |
| HOVERGEN | HBG004805. |
| InParanoid | Q99435. |
| OMA | DTICFNL. |
| OrthoDB | EOG44TP76. |
| PhylomeDB | Q99435. |
Gene expression databases | |
| ArrayExpress | Q99435. |
| Bgee | Q99435. |
| CleanEx | HS_NELL2. HS_NRP2. |
| Genevestigator | Q99435. |
| GermOnline | ENSG00000184613. Homo sapiens. |
Family and domain databases | |
| Gene3D | 2.60.120.200. 1 hit. |
| InterPro | IPR026823. cEGF. 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. [Graphical view] |
| Pfam | PF12662. cEGF. 1 hit. PF07645. EGF_CA. 2 hits. PF02210. Laminin_G_2. 1 hit. PF00093. VWC. 2 hits. [Graphical view] |
| SMART | SM00181. EGF. 2 hits. SM00179. EGF_CA. 3 hits. SM00282. LamG. 1 hit. SM00210. TSPN. 1 hit. SM00214. VWC. 3 hits. [Graphical view] |
| SUPFAM | SSF49899. ConA_like_lec_gl. 1 hit. |
| PROSITE | PS00010. ASX_HYDROXYL. 3 hits. PS00022. EGF_1. 1 hit. PS01186. EGF_2. 4 hits. PS50026. EGF_3. 6 hits. PS01187. EGF_CA. 3 hits. PS50025. LAM_G_DOMAIN. False negative. PS01208. VWFC_1. 2 hits. PS50184. VWFC_2. 3 hits. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | NELL2. human. |
| GenomeRNAi | 4753. |
| NextBio | 18320. |
| SOURCE | Search... |
Entry information
| Entry name | NELL2_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q99435 Secondary accession number(s): B7Z2U7 Q96JS2 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any 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. | ||||||||
Relevant documents
| Human chromosome 12 Human chromosome 12: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
