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    DIP2C disco interacting protein 2 homolog C [ Homo sapiens (human) ]

    Gene ID: 22982, updated on 10-Dec-2024

    Summary

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    Official Symbol
    DIP2Cprovided by HGNC
    Official Full Name
    disco interacting protein 2 homolog Cprovided by HGNC
    Primary source
    HGNC:HGNC:29150
    See related
    Ensembl:ENSG00000151240 MIM:611380; AllianceGenome:HGNC:29150
    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
    Also known as
    KIAA0934
    Summary
    This gene encodes a member of the disco-interacting protein homolog 2 family. The protein shares strong similarity with a Drosophila protein which interacts with the transcription factor disco and is expressed in the nervous system. [provided by RefSeq, Oct 2008]
    Expression
    Ubiquitous expression in kidney (RPKM 7.7), brain (RPKM 6.6) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DIP2C in Genome Data Viewer
    Location:
    10p15.3
    Exon count:
    44
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (274201..689668, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (267399..686466, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (320141..735608, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene zinc finger MYND-type containing 11 Neighboring gene uncharacterized LOC107984190 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr10:294268-295467 Neighboring gene uncharacterized LOC107984191 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:310208-311407 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr10:315279-315788 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr10:315789-316297 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2891 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2892 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:354363-355312 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:360487-360986 Neighboring gene RNA, 5S ribosomal pseudogene 298 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:369502-370701 Neighboring gene uncharacterized LOC124902362 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr10:390524-391723 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr10:409736-410935 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:415094-416033 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:418775-419282 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:461462-462661 Neighboring gene RNA, 7SL, cytoplasmic 754, pseudogene Neighboring gene nonconserved acetylation island sequence 51 enhancer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:537143-537670 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:545619-546565 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr10:552897-553476 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:560455-560955 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:569578-570078 Neighboring gene NANOG hESC enhancer GRCh37_chr10:579126-579627 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:587680-588180 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:602477-603050 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:603051-603624 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:616513-617372 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:617373-618230 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:665809-666308 Neighboring gene uncharacterized LOC124902361 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:671345-672137 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:672138-672929 Neighboring gene uncharacterized LOC101930421 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:675079-676038 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:678070-679004 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:685662-686568 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:696476-697298 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:709923-710450 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:717375-717875 Neighboring gene DIP2C antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:735983-736918 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:745902-746402 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:746403-746903 Neighboring gene microRNA 5699 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:771745-772245 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:791683-792184 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:792185-792684 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:805871-806370 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:833618-834539 Neighboring gene HNF4 motif-containing MPRA enhancer 225 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:855234-855734 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:855735-856235 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:860653-861153 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:860152-860652 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:879525-879763 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_17861 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:908856-909700 Neighboring gene La ribonucleoprotein 4B Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2063 Neighboring gene keratinocyte proline-rich protein-like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2062 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2061 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2060 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2059 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:989167-989668 Neighboring gene LARP4B divergent transcript Neighboring gene Sharpr-MPRA regulatory region 2332 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:1036121-1037016 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:1050745-1051244 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:1054558-1055058 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:1055059-1055559 Neighboring gene GTP binding protein 4 Neighboring gene isopentenyl-diphosphate delta isomerase 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay. Ha T, et al. Am J Med Genet A, 2024 Jul. PMID 38421105,
    2. DIP2C polymorphisms are implicated in susceptibility and clinical phenotypes of autism spectrum disorder. Li Y, et al. Psychiatry Res, 2022 Oct. PMID 35987071
    3. DIP2C expression in breast cancer and its clinical significance. Li J, et al. Pathol Res Pract, 2017 Nov. PMID 28964575
    4. Loss of DIP2C in RKO cells stimulates changes in DNA methylation and epithelial-mesenchymal transition. Larsson C, et al. BMC Cancer, 2017 Jul 17. PMID 28716088, Free PMC Article
    5. A genome wide association study of plasma uric acid levels in obese cases and never-overweight controls. Li WD, et al. Obesity (Silver Spring), 2013 Sep. PMID 23703922, Free PMC Article

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay.
      Title: De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay.
    2. DIP2C polymorphisms are implicated in susceptibility and clinical phenotypes of autism spectrum disorder.
      Title: DIP2C polymorphisms are implicated in susceptibility and clinical phenotypes of autism spectrum disorder.
    3. The data revealed DIP2C expression level decreased in breast cancer, especially in basal-like and HER-2 subtypes, and could be a valuable target for diagnosis on specific subtype of breast cancer
      Title: DIP2C expression in breast cancer and its clinical significance.
    4. Loss of DIP2C triggers substantial DNA methylation and gene expression changes, cellular senescence and epithelial-mesenchymal transition in cancer cells.
      Title: Loss of DIP2C in RKO cells stimulates changes in DNA methylation and epithelial-mesenchymal transition.
    5. DIP2C gene SNP rs877282 reached genome-wide significant association with plasma uric acid levels (P = 4.56 x 10(-8)).
      Title: A genome wide association study of plasma uric acid levels in obese cases and never-overweight controls.
    6. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    7. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    8. Observational study of gene-disease association. (HuGE Navigator)
      Title: Association of genetic variants with hemorrhagic stroke in Japanese individuals.
    9. This publication discusses the expression pattern and potential function of similar genes in Drosophila and mouse.
      Title: Cloning, genomic organization and expression pattern of a novel Drosophila gene, the disco-interacting protein 2 (dip2), and its murine homolog.
    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

    EBI GWAS Catalog

    Description
    A genome wide association study of plasma uric acid levels in obese cases and never-overweight controls.
    EBI GWAS Catalog
    An atlas of genetic influences on human blood metabolites.
    EBI GWAS Catalog
    Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
    EBI GWAS Catalog
    Genome-wide association study of Alzheimer's disease with psychotic symptoms.
    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

    Homology

    Clone Names

    • FLJ34444, FLJ44075

    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
    		  
    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
    disco-interacting protein 2 homolog C
    Names
    DIP2 disco-interacting protein 2 homolog C
    DIP2 homolog C

    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.

    mRNA and Protein(s)

    1. NM_014974.3 → NP_055789.1  disco-interacting protein 2 homolog C

      See identical proteins and their annotated locations for NP_055789.1

      Status: REVIEWED

      Source sequence(s)
      AB023151, AK311679, AL603831, BC035216, BC048327, BC063313, BX537672, N27959
      Consensus CDS
      CCDS7054.1
      UniProtKB/Swiss-Prot
      B4DPI5, Q5SS78, Q9Y2E4
      Related
      ENSP00000280886.6, ENST00000280886.12
      Conserved Domains (5) summary
      cd05905
      Location:341 → 905
      Dip2; Disco-interacting protein 2 (Dip2)
      COG0318
      Location:317 → 908
      CaiC; Acyl-CoA synthetase (AMP-forming)/AMP-acid ligase II [Lipid transport and metabolism, Secondary metabolites biosynthesis, transport and catabolism]
      pfam00501
      Location:976 → 1450
      AMP-binding; AMP-binding enzyme
      pfam06464
      Location:7 → 120
      DMAP_binding; DMAP1-binding Domain
      cl17068
      Location:993 → 1545
      AFD_class_I; Adenylate forming domain, Class I superfamily

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      274201..689668 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005252427.5 → XP_005252484.1  disco-interacting protein 2 homolog C isoform X4

      Conserved Domains (5) summary
      cd05905
      Location:341 → 905
      Dip2; Disco-interacting protein 2 (Dip2)
      COG0318
      Location:317 → 908
      CaiC; Acyl-CoA synthetase (AMP-forming)/AMP-acid ligase II [Lipid transport and metabolism, Secondary metabolites biosynthesis, transport and catabolism]
      pfam00501
      Location:976 → 1460
      AMP-binding; AMP-binding enzyme
      pfam06464
      Location:7 → 120
      DMAP_binding; DMAP1-binding Domain
      cl17068
      Location:993 → 1555
      AFD_class_I; Adenylate forming domain, Class I superfamily

    2. XM_005252426.4 → XP_005252483.1  disco-interacting protein 2 homolog C isoform X3

      Conserved Domains (5) summary
      cd05905
      Location:397 → 961
      Dip2; Disco-interacting protein 2 (Dip2)
      COG0318
      Location:373 → 964
      CaiC; Acyl-CoA synthetase (AMP-forming)/AMP-acid ligase II [Lipid transport and metabolism, Secondary metabolites biosynthesis, transport and catabolism]
      pfam00501
      Location:1032 → 1506
      AMP-binding; AMP-binding enzyme
      pfam06464
      Location:7 → 176
      DMAP_binding; DMAP1-binding Domain
      cl17068
      Location:1049 → 1601
      AFD_class_I; Adenylate forming domain, Class I superfamily

    3. XM_005252428.5 → XP_005252485.1  disco-interacting protein 2 homolog C isoform X1

      UniProtKB/TrEMBL
      A0A0U1RQW6
      Related
      ENSP00000489203.1, ENST00000634311.1
      Conserved Domains (5) summary
      cd05905
      Location:397 → 961
      Dip2; Disco-interacting protein 2 (Dip2)
      COG0318
      Location:373 → 964
      CaiC; Acyl-CoA synthetase (AMP-forming)/AMP-acid ligase II [Lipid transport and metabolism, Secondary metabolites biosynthesis, transport and catabolism]
      pfam00501
      Location:1032 → 1516
      AMP-binding; AMP-binding enzyme
      pfam06464
      Location:7 → 176
      DMAP_binding; DMAP1-binding Domain
      cl17068
      Location:1049 → 1611
      AFD_class_I; Adenylate forming domain, Class I superfamily

    4. XM_011519432.3 → XP_011517734.1  disco-interacting protein 2 homolog C isoform X6

      Conserved Domains (4) summary
      cd05905
      Location:234 → 798
      Dip2; Disco-interacting protein 2 (Dip2)
      COG0318
      Location:210 → 801
      CaiC; Acyl-CoA synthetase (AMP-forming)/AMP-acid ligase II [Lipid transport and metabolism, Secondary metabolites biosynthesis, transport and catabolism]
      pfam00501
      Location:869 → 1353
      AMP-binding; AMP-binding enzyme
      cl17068
      Location:886 → 1448
      AFD_class_I; Adenylate forming domain, Class I superfamily

    5. XM_011519431.3 → XP_011517733.1  disco-interacting protein 2 homolog C isoform X5

      Conserved Domains (5) summary
      cd05905
      Location:345 → 909
      Dip2; Disco-interacting protein 2 (Dip2)
      COG0318
      Location:321 → 912
      CaiC; Acyl-CoA synthetase (AMP-forming)/AMP-acid ligase II [Lipid transport and metabolism, Secondary metabolites biosynthesis, transport and catabolism]
      pfam00501
      Location:980 → 1454
      AMP-binding; AMP-binding enzyme
      pfam06464
      Location:32 → 124
      DMAP_binding; DMAP1-binding Domain
      cl17068
      Location:997 → 1549
      AFD_class_I; Adenylate forming domain, Class I superfamily

    6. XM_011519429.4 → XP_011517731.1  disco-interacting protein 2 homolog C isoform X2

      Conserved Domains (5) summary
      cd05905
      Location:401 → 965
      Dip2; Disco-interacting protein 2 (Dip2)
      COG0318
      Location:377 → 968
      CaiC; Acyl-CoA synthetase (AMP-forming)/AMP-acid ligase II [Lipid transport and metabolism, Secondary metabolites biosynthesis, transport and catabolism]
      pfam00501
      Location:1036 → 1510
      AMP-binding; AMP-binding enzyme
      pfam06464
      Location:32 → 180
      DMAP_binding; DMAP1-binding Domain
      cl17068
      Location:1053 → 1605
      AFD_class_I; Adenylate forming domain, Class I superfamily

    7. XM_011519433.4 → XP_011517735.1  disco-interacting protein 2 homolog C isoform X8

      Conserved Domains (2) summary
      pfam00501
      Location:297 → 781
      AMP-binding; AMP-binding enzyme
      cl17068
      Location:314 → 876
      AFD_class_I; Adenylate forming domain, Class I superfamily

    8. XM_005252430.4 → XP_005252487.3  disco-interacting protein 2 homolog C isoform X7

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      267399..686466 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054365264.1 → XP_054221239.1  disco-interacting protein 2 homolog C isoform X4

    2. XM_054365262.1 → XP_054221237.1  disco-interacting protein 2 homolog C isoform X3

    3. XM_054365260.1 → XP_054221235.1  disco-interacting protein 2 homolog C isoform X1

      UniProtKB/TrEMBL
      A0A0U1RQW6

    4. XM_054365266.1 → XP_054221241.1  disco-interacting protein 2 homolog C isoform X6

    5. XM_054365259.1 → XP_054221234.1  disco-interacting protein 2 homolog C isoform X9

    6. XM_054365261.1 → XP_054221236.1  disco-interacting protein 2 homolog C isoform X2

    7. XM_054365263.1 → XP_054221238.1  disco-interacting protein 2 homolog C isoform X10

    8. XM_054365265.1 → XP_054221240.1  disco-interacting protein 2 homolog C isoform X5

    9. XM_054365269.1 → XP_054221244.1  disco-interacting protein 2 homolog C isoform X8

    10. XM_054365267.1 → XP_054221242.1  disco-interacting protein 2 homolog C isoform X11

    11. XM_054365268.1 → XP_054221243.1  disco-interacting protein 2 homolog C isoform X12

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y2E4.2 GenPept UniProtKB/Swiss-Prot:Q9Y2E4

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