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    DENND2C DENN domain containing 2C [ Homo sapiens (human) ]

    Gene ID: 163259, updated on 17-Jun-2019

    Summary

    Official Symbol
    DENND2Cprovided by HGNC
    Official Full Name
    DENN domain containing 2Cprovided by HGNC
    Primary source
    HGNC:HGNC:24748
    See related
    Ensembl:ENSG00000175984
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    dJ1156J9.1
    Expression
    Biased expression in esophagus (RPKM 11.0), skin (RPKM 6.6) and 10 other tissues See more
    Orthologs

    Genomic context

    See DENND2C in Genome Data Viewer
    Location:
    1p13.2
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (114582850..114670049, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (115127155..115212732, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378913 Neighboring gene uncharacterized LOC105378914 Neighboring gene BCAS2 pre-mRNA processing factor Neighboring gene adenosine monophosphate deaminase 1 Neighboring gene RNA, 7SL, cytoplasmic 432, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • 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

    Pathways from BioSystems

    • Membrane Trafficking, organism-specific biosystem (from REACTOME)
      Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
    • RAB GEFs exchange GTP for GDP on RABs, organism-specific biosystem (from REACTOME)
      RAB GEFs exchange GTP for GDP on RABs, organism-specific biosystemHuman cells have more than 60 RAB proteins that are key regulators of intracellular membrane trafficking. These small GTPases contribute to trafficking specificity by localizing to the membranes of d...
    • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
      Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Potential readthrough

    Included gene: BCAS2

    Potential readthrough

    Included gene: AMPD1

    Homology

    Clone Names

    • FLJ37099, DKFZp686G0351, DKFZp686N1631, DKFZp779P1149

    General protein information

    Preferred Names
    DENN domain-containing protein 2C
    Names
    DENN/MADD domain containing 2C
    RP5-1156J9.1

    NCBI Reference Sequences (RefSeq)

    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.

    mRNA and Protein(s)

    1. NM_001256404.2NP_001243333.1  DENN domain-containing protein 2C isoform 1

      See identical proteins and their annotated locations for NP_001243333.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer variant and it encodes the longer protein (isoform 1).
      Source sequence(s)
      AL096773, AL133382, AL390241, BX647950
      Consensus CDS
      CCDS58018.1
      UniProtKB/Swiss-Prot
      Q68D51
      Related
      ENSP00000376955.1, ENST00000393274.6
      Conserved Domains (3) summary
      smart00801
      Location:815881
      dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
      smart00800
      Location:487576
      uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
      pfam02141
      Location:586770
      DENN; DENN (AEX-3) domain
    2. NM_198459.4NP_940861.3  DENN domain-containing protein 2C isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks several exons in the 5' UTR and in the coding region, compared to variant 1. The resulting protein (isoform 2) is shorter when it is compared to isoform 1.
      Source sequence(s)
      AL133382, AL390241, BC063894, BX647950, DB071246
      Consensus CDS
      CCDS875.1
      UniProtKB/Swiss-Prot
      Q68D51
      Related
      ENSP00000376957.3, ENST00000393276.7
      Conserved Domains (3) summary
      smart00801
      Location:758824
      dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
      smart00800
      Location:430519
      uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
      pfam02141
      Location:529713
      DENN; DENN (AEX-3) domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

      Range
      114582850..114670049 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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