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    DEPDC7 DEP domain containing 7 [ Homo sapiens (human) ]

    Gene ID: 91614, updated on 2-Nov-2024

    Summary

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    Official Symbol
    DEPDC7provided by HGNC
    Official Full Name
    DEP domain containing 7provided by HGNC
    Primary source
    HGNC:HGNC:29899
    See related
    Ensembl:ENSG00000121690 MIM:612294; AllianceGenome:HGNC:29899
    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
    TR2; dJ85M6.4
    Summary
    Predicted to be involved in intracellular signal transduction. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in liver (RPKM 15.2), testis (RPKM 15.0) and 9 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DEPDC7 in Genome Data Viewer
    Location:
    11p13
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (33015878..33033582)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (33151462..33169161)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (33037424..33055128)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene coiled-coil domain containing 73 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3226 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4566 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4567 Neighboring gene proline rich and Gla domain 4 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:32912708-32913282 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3227 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3228 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4568 Neighboring gene glutamine and serine rich 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:32968504-32968654 Neighboring gene uncharacterized LOC105376615 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:33022947-33023448 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4569 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4570 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3229 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3230 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:33060521-33061068 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3231 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4572 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr11:33071407-33071907 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr11:33082368-33083567 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:33089797-33090298 Neighboring gene t-complex 11 like 1 Neighboring gene long intergenic non-protein coding RNA 294 Neighboring gene phosphatidylinositol glycan anchor biosynthesis class C pseudogene 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 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. DEPDC7 inhibits cell proliferation, migration and invasion in hepatoma cells. Liao Z, et al. Oncol Lett, 2017 Dec. PMID 29344171, Free PMC Article
    2. Construction and Identification of the RNAi Recombinant Lentiviral Vector Targeting Human DEPDC7 Gene. Liao Z, et al. Interdiscip Sci, 2017 Sep. PMID 27016254
    3. Further evidence of DEPDC7 DNA hypomethylation in depression: A study in adult twins. Córdova-Palomera A, et al. Eur Psychiatry, 2015 Sep. PMID 25952135
    4. The Dishevelled, EGL-10 and pleckstrin (DEP) domain-containing protein DEPDC7 binds to CARMA2 and CARMA3 proteins, and regulates NF-κB activation. D'Andrea EL, et al. PLoS One, 2014. PMID 25541973, Free PMC Article
    5. A 7.5 Mb sequence-ready PAC contig and gene expression map of human chromosome 11p13-p14.1. Gawin B, et al. Genome Res, 1999 Nov. PMID 10568747, Free PMC Article

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. RNA interference (RNAi) recombinant lentiviral vector particle targeting DEPDC7 was constructed in order to knockdown its gene expression in human hepatocellular carcinoma cell line HepG2.
      Title: Construction and Identification of the RNAi Recombinant Lentiviral Vector Targeting Human DEPDC7 Gene.
    2. DEPDC7 hypomethylation in peripheral blood DNA may be associated with recent depressive symptomatology.
      Title: Further evidence of DEPDC7 DNA hypomethylation in depression: A study in adult twins.
    3. The study identified the DEP domain-containing protein DEPDC7 as cellular binding partner of CARMA2 and CARMA3 proteins.
      Title: The Dishevelled, EGL-10 and pleckstrin (DEP) domain-containing protein DEPDC7 binds to CARMA2 and CARMA3 proteins, and regulates NF-κB activation.
    Submit: New GeneRIF Correction

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    involved_in intracellular signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  

    General protein information

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    Preferred Names
    DEP domain-containing protein 7
    Names
    dJ85M6.4 (novel 58.3 KDA protein)
    novel 58.3 KDA protein

    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_001077242.2 → NP_001070710.1  DEP domain-containing protein 7 isoform 1

      See identical proteins and their annotated locations for NP_001070710.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the more frequently occurring transcript and it encodes the longer protein (isoform 1).
      Source sequence(s)
      AJ245600, BC030970
      Consensus CDS
      CCDS41632.1
      UniProtKB/Swiss-Prot
      G5E941, Q8N602, Q8NCU9, Q96QD5, Q9UGK5
      Related
      ENSP00000241051.3, ENST00000241051.8
      Conserved Domains (2) summary
      cd04405
      Location:194 → 427
      RhoGAP_BRCC3-like; RhoGAP_BRCC3-like: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of BRCC3-like proteins. This subgroup also contains two groups of closely related proteins, BRCC3 and DEPDC7, which both contain a C-terminal RhoGAP-like domain ...
      cd04446
      Location:39 → 133
      DEP_DEPDC4; DEP (Dishevelled, Egl-10, and Pleckstrin) domain found in DEPDC4-like proteins. DEPDC4 is a DEP domain containing protein of unknown function.

    2. NM_139160.3 → NP_631899.2  DEP domain-containing protein 7 isoform 2

      See identical proteins and their annotated locations for NP_631899.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) includes a different segment for the 5' UTR and 5' CDS, compared to variant 1. The resulting protein (isoform 2) has a shorter and distinct N-terminus when it is compared to isoform 1.
      Source sequence(s)
      AC107939, AJ245600, BC030970
      Consensus CDS
      CCDS41633.1
      UniProtKB/Swiss-Prot
      Q96QD5
      Related
      ENSP00000308971.3, ENST00000311388.7
      Conserved Domains (2) summary
      cd04405
      Location:185 → 418
      RhoGAP_BRCC3-like; RhoGAP_BRCC3-like: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of BRCC3-like proteins. This subgroup also contains two groups of closely related proteins, BRCC3 and DEPDC7, which both contain a C-terminal RhoGAP-like domain ...
      cd04446
      Location:30 → 124
      DEP_DEPDC4; DEP (Dishevelled, Egl-10, and Pleckstrin) domain found in DEPDC4-like proteins. DEPDC4 is a DEP domain containing protein of unknown function.

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      33015878..33033582
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      33151462..33169161
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96QD5.1 GenPept UniProtKB/Swiss-Prot:Q96QD5

    Gene LinkOut

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

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