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

    Gene ID: 55707, updated on 3-Nov-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
    mouse all
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    Genomic context

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    See NECAP2 in Genome Data Viewer
    Location:
    1p36.13
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (16440724..16460078)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (15882405..15901764)
    RS_2024_09 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. Ubiquitin-assisted phase separation of dishevelled-2 promotes Wnt signalling. Vamadevan V, et al. J Cell Sci, 2022 Dec 15. PMID 36398662

    See all (45) 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)

    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

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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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    NEW Try the new Transcript table

    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_2024_08

    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

    Gene LinkOut

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