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

Gene ID: 22982, updated on 5-Mar-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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Location:
10p15.3
Exon count:
44
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (274201..689668, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (267399..686466, complement)
105.20220307 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: 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. DIP2C polymorphisms are implicated in susceptibility and clinical phenotypes of autism spectrum disorder. Li Y, et al. Psychiatry Res, 2022 Oct. PMID 35987071
  2. DIP2C expression in breast cancer and its clinical significance. Li J, et al. Pathol Res Pract, 2017 Nov. PMID 28964575
  3. 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
  4. 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
  5. Cloning, genomic organization and expression pattern of a novel Drosophila gene, the disco-interacting protein 2 (dip2), and its murine homolog. Mukhopadhyay M, et al. Gene, 2002 Jun 26. PMID 12137943

See all (25) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. Observational study of gene-disease association. (HuGE Navigator)
    Title: Association of genetic variants with hemorrhagic stroke in Japanese individuals.
  8. 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)

Genotypes

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_2023_10

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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