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    SUSD6 sushi domain containing 6 [ Homo sapiens (human) ]

    Gene ID: 9766, updated on 10-Dec-2024

    Summary

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    Official Symbol
    SUSD6provided by HGNC
    Official Full Name
    sushi domain containing 6provided by HGNC
    Primary source
    HGNC:HGNC:19956
    See related
    Ensembl:ENSG00000100647 MIM:616761; AllianceGenome:HGNC:19956
    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
    DRAGO; KIAA0247
    Summary
    Involved in DNA damage response. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in bone marrow (RPKM 26.4), appendix (RPKM 20.7) and 25 other tissues See more
    Orthologs
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    Genomic context

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    See SUSD6 in Genome Data Viewer
    Location:
    14q24.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (69611596..69715144)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (63819270..63922809)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (70078313..70181861)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene RPL24 pseudogene 3 Neighboring gene coiled-coil domain containing 177 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:70061623-70061793 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5882 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8638 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8639 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:70088656-70089156 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8640 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8641 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8642 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:70104475-70104987 Neighboring gene Sharpr-MPRA regulatory region 10837 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:70124416-70125196 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8643 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8644 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8645 Neighboring gene Sharpr-MPRA regulatory region 2331 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8646 Neighboring gene Sharpr-MPRA regulatory region 930 Neighboring gene Sharpr-MPRA regulatory region 8327 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr14:70207027-70208226 Neighboring gene uncharacterized LOC100289511 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8647 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8648 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:70233975-70234739 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8649 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:70237232-70238431 Neighboring gene serine and arginine rich splicing factor 5 Neighboring gene solute carrier family 10 member 1 Neighboring gene Sharpr-MPRA regulatory region 10266

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. A predicted protein, KIAA0247, is a cell cycle modulator in colorectal cancer cells under 5-FU treatment. Huang CJ, et al. J Transl Med, 2011 May 28. PMID 21619678, Free PMC Article
    2. KIAA0247 inhibits growth, migration, invasion of non-small-cell lung cancer through regulating the Notch pathway. Xu Y, et al. Cancer Sci, 2018 Apr. PMID 29451718, Free PMC Article
    3. Characterization of SVEP1, KIAA, and SRPX2 in an in vitro cell culture model of endotoxemia. Schwanzer-Pfeiffer D, et al. Cell Immunol, 2010. PMID 20236627
    4. KIAA0247 suppresses the proliferation, angiogenesis and promote apoptosis of human glioma through inactivation of the AKT and Stat3 signaling pathway. Tan Y, et al. Oncotarget, 2016 Dec 27. PMID 27893430, Free PMC Article
    5. DRAGO (KIAA0247), a new DNA damage-responsive, p53-inducible gene that cooperates with p53 as oncosuppressor. [Corrected]. Polato F, et al. J Natl Cancer Inst, 2014 Apr. PMID 24652652, Free PMC Article

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. KIAA0247 is a candidate prognostic biomarker and potential therapeutic target in NSCLC.
      Title: KIAA0247 inhibits growth, migration, invasion of non-small-cell lung cancer through regulating the Notch pathway.
    2. overexpression of KIAA0247 is able to inhibit phosphorylation of AKT and Stat3 in glioma cells, resulting in inactivation of the AKT and Stat3 signaling pathways, this ultimately decreases the expression of PCNA, CyclinD1, Bcl2 and VEGF.
      Title: KIAA0247 suppresses the proliferation, angiogenesis and promote apoptosis of human glioma through inactivation of the AKT and Stat3 signaling pathway.
    3. DRAGO (drug-activated gene overexpressed) KIAA0247 represents a new p53-dependent gene highly regulated in human cells and whose expression cooperates with p53 in tumor suppressor functions.
      Title: DRAGO (KIAA0247), a new DNA damage-responsive, p53-inducible gene that cooperates with p53 as oncosuppressor. [Corrected].
    4. This is the first description of a linkage between KIAA0247 and colorectal cancer.
      Title: A predicted protein, KIAA0247, is a cell cycle modulator in colorectal cancer cells under 5-FU treatment.
    5. gene silencing in umbilical vein endothelial cells causes decrease in monocyte chemoattractant protein-1 production during endotoxemia
      Title: Characterization of SVEP1, KIAA, and SRPX2 in an in vitro cell culture model of endotoxemia.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0247

    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 DNA damage response IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in DNA damage response IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    sushi domain-containing protein 6
    Names
    drug-activated gene overexpressed 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_014734.4 → NP_055549.1  sushi domain-containing protein 6 precursor

      See identical proteins and their annotated locations for NP_055549.1

      Status: VALIDATED

      Source sequence(s)
      AL355837, D87434, DC346928
      Consensus CDS
      CCDS9796.1
      UniProtKB/Swiss-Prot
      Q92537
      Related
      ENSP00000344424.4, ENST00000342745.5
      Conserved Domains (1) summary
      cd00033
      Location:42 → 103
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      69611596..69715144
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      63819270..63922809
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q92537.1 GenPept UniProtKB/Swiss-Prot:Q92537

    Gene LinkOut

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

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