Human Gene NECAP2 (ENST00000337132.10_4) from GENCODE V47lift37
  Description: NECAP endocytosis associated 2, transcript variant 1 (from RefSeq NM_018090.5)
Gencode Transcript: ENST00000337132.10_4
Gencode Gene: ENSG00000157191.20_10
Transcript (Including UTRs)
   Position: hg19 chr1:16,767,219-16,786,573 Size: 19,355 Total Exon Count: 8 Strand: +
Coding Region
   Position: hg19 chr1:16,767,257-16,785,385 Size: 18,129 Coding Exon Count: 8 

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 (chr1:16,767,219-16,786,573)mRNA (may differ from genome)Protein (263 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: NECP2_HUMAN
DESCRIPTION: RecName: Full=Adaptin ear-binding coat-associated protein 2; AltName: Full=NECAP endocytosis-associated protein 2; Short=NECAP-2;
FUNCTION: Involved in endocytosis (By similarity).
SUBUNIT: Interacts with AP1G1 and AP2A1 components of the adapter protein complexes AP-1 and AP-2. Interacts with the GAE domain proteins GGA1, GGA2 and GGA3 (By similarity).
SUBCELLULAR LOCATION: Cytoplasmic vesicle, clathrin-coated vesicle membrane (By similarity). Cell membrane (By similarity). Note=Colocalizes with AP-2 at the plasma membrane (By similarity).
DOMAIN: The WXXF motifs mediate binding of accessory proteins to the ear-domain of AP-1, GGAs and AP-2 through hydrophobic interactions. Selective binding to the GAE domains of AP-1 or to the alpha-ear domain of AP-2 is tuned by the acidic context surrounding the motif and the properties of the second residue of the motif itself (By similarity).
SIMILARITY: Belongs to the NECAP family.
SEQUENCE CAUTION: Sequence=BAB15758.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

-  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: NECAP2
Diseases sorted by gene-association score: cataract 8, multiple types (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  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: 50.94 RPKM in Spleen
Total median expression: 901.43 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 -13.3038-0.350 Picture PostScript Text
3' UTR -405.601188-0.341 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
IPR012466 - NECAP-1

Pfam Domains:
PF07933 - Protein of unknown function (DUF1681)

SCOP Domains:
50729 - PH domain-like

ModBase Predicted Comparative 3D Structure on Q9NVZ3
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
  Biological Process:
GO:0006897 endocytosis
GO:0015031 protein transport

Cellular Component:
GO:0005622 intracellular
GO:0005886 plasma membrane
GO:0005905 clathrin-coated pit
GO:0016020 membrane
GO:0030125 clathrin vesicle coat
GO:0030665 clathrin-coated vesicle membrane
GO:0031410 cytoplasmic vesicle


-  Descriptions from all associated GenBank mRNAs
  LF206699 - JP 2014500723-A/14202: Polycomb-Associated Non-Coding RNAs.
AK223344 - Homo sapiens mRNA for hypothetical protein FLJ10420 variant, clone: TST03519.
AK302227 - Homo sapiens cDNA FLJ53612 complete cds, highly similar to Adaptin ear-binding coat-associated protein 2.
AK300764 - Homo sapiens cDNA FLJ52763 complete cds, highly similar to Adaptin ear-binding coat-associated protein 2.
AK023545 - Homo sapiens cDNA FLJ13483 fis, clone PLACE1003886.
BC018914 - Homo sapiens NECAP endocytosis associated 2, mRNA (cDNA clone MGC:12597 IMAGE:4299890), complete cds.
BC017014 - Homo sapiens NECAP endocytosis associated 2, mRNA (cDNA clone MGC:8827 IMAGE:3848563), complete cds.
AK001282 - Homo sapiens cDNA FLJ10420 fis, clone NT2RP1000170.
AB463921 - Synthetic construct DNA, clone: pF1KB8357, Homo sapiens NECAP2 gene for NECAP endocytosis associated 2, without stop codon, in Flexi system.
AK024468 - Homo sapiens mRNA for FLJ00061 protein, partial cds.
AM393342 - Synthetic construct Homo sapiens clone IMAGE:100002517 for hypothetical protein (NECAP2 gene).
KJ894240 - Synthetic construct Homo sapiens clone ccsbBroadEn_03634 NECAP2 gene, encodes complete protein.
AK021938 - Homo sapiens cDNA FLJ11876 fis, clone HEMBA1007080.
MA442276 - JP 2018138019-A/14202: Polycomb-Associated Non-Coding RNAs.
LF357209 - JP 2014500723-A/164712: Polycomb-Associated Non-Coding RNAs.
MA592786 - JP 2018138019-A/164712: Polycomb-Associated Non-Coding RNAs.
JD323782 - Sequence 304806 from Patent EP1572962.
JD530859 - Sequence 511883 from Patent EP1572962.
JD418562 - Sequence 399586 from Patent EP1572962.
DQ587560 - Homo sapiens piRNA piR-54672, complete sequence.
JD088954 - Sequence 69978 from Patent EP1572962.
LF357204 - JP 2014500723-A/164707: Polycomb-Associated Non-Coding RNAs.
JD344629 - Sequence 325653 from Patent EP1572962.
JD272487 - Sequence 253511 from Patent EP1572962.
JD280640 - Sequence 261664 from Patent EP1572962.
JD368478 - Sequence 349502 from Patent EP1572962.
JD340394 - Sequence 321418 from Patent EP1572962.
JD187754 - Sequence 168778 from Patent EP1572962.
DQ586314 - Homo sapiens piRNA piR-53426, complete sequence.
JD477171 - Sequence 458195 from Patent EP1572962.
JD193339 - Sequence 174363 from Patent EP1572962.
JD119756 - Sequence 100780 from Patent EP1572962.
JD146171 - Sequence 127195 from Patent EP1572962.
JD075517 - Sequence 56541 from Patent EP1572962.
JD455615 - Sequence 436639 from Patent EP1572962.
JD334233 - Sequence 315257 from Patent EP1572962.
JD076570 - Sequence 57594 from Patent EP1572962.
JD222383 - Sequence 203407 from Patent EP1572962.
JD207236 - Sequence 188260 from Patent EP1572962.
JD273327 - Sequence 254351 from Patent EP1572962.
JD474117 - Sequence 455141 from Patent EP1572962.
JD197906 - Sequence 178930 from Patent EP1572962.
JD433232 - Sequence 414256 from Patent EP1572962.
JD042462 - Sequence 23486 from Patent EP1572962.
JD404123 - Sequence 385147 from Patent EP1572962.
MA592781 - JP 2018138019-A/164707: Polycomb-Associated Non-Coding RNAs.

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

Protein Q9NVZ3 (Reactome details) participates in the following event(s):

R-HSA-8856808 Recruitment of AP-2 complex and clathrin
R-HSA-8866283 ARBB recruits GPCRs into clathrin-coated pits
R-HSA-8867756 CLASP proteins and cargo are recruited to the nascent clathrin-coated pit
R-HSA-8856813 AAK1 phosphorylates AP-2 mu subunit at T156
R-HSA-8871194 RAB5 and GAPVD1 bind AP-2
R-HSA-8868658 HSPA8-mediated ATP hydrolysis promotes vesicle uncoating
R-HSA-8868659 Clathrin recruits auxilins to the clathrin-coated vesicle
R-HSA-8868661 Dynamin-mediated GTP hydrolysis promotes vesicle scission
R-HSA-8868660 Auxilin recruits HSPA8:ATP to the clathrin-coated vesicle
R-HSA-8868648 SYNJ hydrolyze PI(4,5)P2 to PI(4)P
R-HSA-8868071 Clathrin recruits PIK3C2A
R-HSA-8868230 SNX9 recruits components of the actin polymerizing machinery
R-HSA-8867754 F- and N- BAR domain proteins bind the clathrin-coated pit
R-HSA-8868236 BAR domain proteins recruit dynamin
R-HSA-8868072 Clathrin-associated PIK3C2A phosphorylates PI(4)P to PI(3,4)P2
R-HSA-8868651 Endophilins recruit synaptojanins to the clathrin-coated pit
R-HSA-8856828 Clathrin-mediated endocytosis
R-HSA-8856825 Cargo recognition for clathrin-mediated endocytosis
R-HSA-199991 Membrane Trafficking
R-HSA-5653656 Vesicle-mediated transport

-  Other Names for This Gene
  Alternate Gene Symbols: B4DY19, E9PGQ8, ENST00000337132.1, ENST00000337132.2, ENST00000337132.3, ENST00000337132.4, ENST00000337132.5, ENST00000337132.6, ENST00000337132.7, ENST00000337132.8, ENST00000337132.9, NECP2_HUMAN, NM_018090, Q5VSU4, Q5VSU5, Q9H7L1, Q9H8L1, Q9NVZ3, uc317urv.1, uc317urv.2
UCSC ID: ENST00000337132.10_4
RefSeq Accession: NM_018090.5
Protein: Q9NVZ3 (aka NECP2_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.