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NECAP2 NECAP endocytosis associated 2 [ Homo sapiens (human) ]

Gene ID: 55707, updated on 11-Apr-2024

Summary

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Official Symbol
NECAP2provided by HGNC
Official Full Name
NECAP endocytosis associated 2provided by HGNC
Primary source
HGNC:HGNC:25528
See related
Ensembl:ENSG00000157191 MIM:611624; AllianceGenome:HGNC:25528
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
Summary
This gene likely encodes a member of the adaptin-ear-binding coat-associated protein family. Studies of a similar protein in rat suggest a role in clathrin-mediated endocytosis. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]
Expression
Ubiquitous expression in lymph node (RPKM 34.8), spleen (RPKM 33.6) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
1p36.13
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (16440724..16460078)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (15882405..15901764)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (16767219..16786573)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein L22 pseudogene 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16706517-16707018 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16707019-16707518 Neighboring gene SUZ RNA binding domain containing 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16712076-16712576 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16712577-16713077 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16719513-16720419 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:16727910-16728085 Neighboring gene spermatogenesis associated 21 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:16764649-16764819 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 265 Neighboring gene long intergenic non-protein coding RNA 1772 Neighboring gene CROCC pseudogene 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16816921-16817565 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16817566-16818209 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 331 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 332 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16839913-16840418 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16840419-16840924 Neighboring gene RNA, U1 small nuclear 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. NECAP2 controls clathrin coat recruitment to early endosomes for fast endocytic recycling. Chamberland JP, et al. J Cell Sci, 2016 Jul 1. PMID 27206861
  2. Identification of a family of endocytic proteins that define a new alpha-adaptin ear-binding motif. Ritter B, et al. EMBO Rep, 2003 Nov. PMID 14555962, Free PMC Article
  3. Definition of the consensus motif recognized by gamma-adaptin ear domains. Mattera R, et al. J Biol Chem, 2004 Feb 27. PMID 14665628
  4. Characterization of long cDNA clones from human adult spleen. Hattori A, et al. DNA Res, 2000 Dec 31. PMID 11214971
  5. Perturbation of the mutated EGFR interactome identifies vulnerabilities and resistance mechanisms. Li J, et al. Mol Syst Biol, 2013 Nov 5. PMID 24189400, Free PMC Article

See all (40) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ10420

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in endocytosis ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in protein transport IEA
Inferred from Electronic Annotation
more info
  
involved_in vesicle-mediated transport IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
part_of clathrin vesicle coat IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of clathrin vesicle coat ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in clathrin-coated pit ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
adaptin ear-binding coat-associated protein 2
Names
adaptin-ear-binding coat-associated protein 2

NCBI Reference Sequences (RefSeq)

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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.

Genomic

  1. NG_047165.1 RefSeqGene

    Range
    5053..24407
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001145277.2 → NP_001138749.1  adaptin ear-binding coat-associated protein 2 isoform 2

    See identical proteins and their annotated locations for NP_001138749.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon in the 3' coding region compared to variant 1 that causes a frameshift. The resulting protein (isoform 2) has a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AK023545, BC018914, BM751287, BQ005870
    Consensus CDS
    CCDS44066.1
    UniProtKB/TrEMBL
    Q53FE5
    Related
    ENSP00000391942.2, ENST00000443980.6
    Conserved Domains (1) summary
    pfam07933
    Location:6 → 162
    DUF1681; Protein of unknown function (DUF1681)

  2. NM_001145278.2 → NP_001138750.1  adaptin ear-binding coat-associated protein 2 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 5' coding region compared to variant 1. This results in a shorter protein (isoform 3) compared to isoform 1.
    Source sequence(s)
    AK302227, BC018914, BM751287, BQ005870
    Consensus CDS
    CCDS44067.1
    UniProtKB/TrEMBL
    Q53FE5
    Related
    ENSP00000407091.2, ENST00000457722.6
    Conserved Domains (2) summary
    PRK14965
    Location:143 → 217
    PRK14965; DNA polymerase III subunits gamma and tau; Provisional
    pfam07933
    Location:6 → 136
    DUF1681; Protein of unknown function (DUF1681)

  3. NM_018090.5 → NP_060560.1  adaptin ear-binding coat-associated protein 2 isoform 1

    See identical proteins and their annotated locations for NP_060560.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes isoform 1.
    Source sequence(s)
    BC018914, BM751287, BQ005870
    Consensus CDS
    CCDS173.1
    UniProtKB/Swiss-Prot
    B4DY19, E9PGQ8, Q5VSU4, Q5VSU5, Q9H7L1, Q9H8L1, Q9NVZ3
    UniProtKB/TrEMBL
    Q53FE5
    Related
    ENSP00000338746.5, ENST00000337132.10
    Conserved Domains (2) summary
    pfam07933
    Location:6 → 162
    DUF1681; Protein of unknown function (DUF1681)
    cl26247
    Location:169 → 243
    DNA_pol3_delta2; DNA polymerase III, delta subunit

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    16440724..16460078
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047424715.1 → XP_047280671.1  adaptin ear-binding coat-associated protein 2 isoform X2

    UniProtKB/TrEMBL
    F6SKB8
    Related
    ENSP00000421335.1, ENST00000459640.5

  2. XM_047424713.1 → XP_047280669.1  adaptin ear-binding coat-associated protein 2 isoform X1

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_025791756.1 Reference GRCh38.p14 PATCHES

    Range
    244989..264343
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054332815.1 → XP_054188790.1  adaptin ear-binding coat-associated protein 2 isoform X2

    UniProtKB/TrEMBL
    F6SKB8

  2. XM_054332814.1 → XP_054188789.1  adaptin ear-binding coat-associated protein 2 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    15882405..15901764
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054337566.1 → XP_054193541.1  adaptin ear-binding coat-associated protein 2 isoform X2

    UniProtKB/TrEMBL
    F6SKB8

  2. XM_054337565.1 → XP_054193540.1  adaptin ear-binding coat-associated protein 2 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NVZ3.1 GenPept UniProtKB/Swiss-Prot:Q9NVZ3

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