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

    Gene ID: 163259, updated on 27-Nov-2024

    Summary

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    Official Symbol
    DENND2Cprovided by HGNC
    Official Full Name
    DENN domain containing 2Cprovided by HGNC
    Primary source
    HGNC:HGNC:24748
    See related
    Ensembl:ENSG00000175984 AllianceGenome:HGNC:24748
    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
    Summary
    Enables guanyl-nucleotide exchange factor activity. Located in nucleoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in esophagus (RPKM 11.0), skin (RPKM 6.6) and 10 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DENND2C in Genome Data Viewer
    Location:
    1p13.2
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (114582850..114670049, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (114594305..114681497, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (115125471..115212670, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene pyruvate kinase M1/2 pseudogene 1 Neighboring gene uncharacterized LOC105378914 Neighboring gene BCAS2 pre-mRNA processing factor Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:115142450-115143649 Neighboring gene MPRA-validated peak379 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1221 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1547 Neighboring gene uncharacterized LOC124904354 Neighboring gene adenosine monophosphate deaminase 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. Common genetic variants on 1p13.2 associate with risk of autism. Xia K, et al. Mol Psychiatry, 2014 Nov. PMID 24189344
    2. Protein interaction discovery using parallel analysis of translated ORFs (PLATO). Zhu J, et al. Nat Biotechnol, 2013 Apr. PMID 23503679, Free PMC Article
    3. Family-wide characterization of the DENN domain Rab GDP-GTP exchange factors. Yoshimura S, et al. J Cell Biol, 2010 Oct 18. PMID 20937701, Free PMC Article
    4. Proximity interactions of the ubiquitin ligase Mind bomb 1 reveal a role in regulation of epithelial polarity complex proteins. Dho SE, et al. Sci Rep, 2019 Aug 28. PMID 31462741, Free PMC Article
    5. Matrix-screening reveals a vast potential for direct protein-protein interactions among RNA binding proteins. Lang B, et al. Nucleic Acids Res, 2021 Jul 9. PMID 34133714, Free PMC Article

    See all (17) 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

    EBI GWAS Catalog

    Description
    Common genetic variants on 1p13.2 associate with risk of autism.
    EBI GWAS Catalog

    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

    Potential readthrough

    Included gene: BCAS2

    Potential readthrough

    Included gene: AMPD1

    Homology

    Clone Names

    • FLJ37099, DKFZp686G0351, DKFZp686N1631, DKFZp779P1149

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables guanyl-nucleotide exchange factor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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

    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.

    mRNA and Protein(s)

    1. NM_001256404.2 → NP_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
      B1AL26, Q5TCX6, Q68D51, Q6P3R3
      Related
      ENSP00000376955.1, ENST00000393274.6
      Conserved Domains (3) summary
      smart00801
      Location:815 → 881
      dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
      smart00800
      Location:487 → 576
      uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
      pfam02141
      Location:586 → 770
      DENN; DENN (AEX-3) domain

    2. NM_198459.4 → NP_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:758 → 824
      dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
      smart00800
      Location:430 → 519
      uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
      pfam02141
      Location:529 → 713
      DENN; DENN (AEX-3) domain

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      114594305..114681497 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q68D51.2 GenPept UniProtKB/Swiss-Prot:Q68D51

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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