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    CAND2 cullin associated and neddylation dissociated 2 (putative) [ Homo sapiens (human) ]

    Gene ID: 23066, updated on 3-Nov-2024

    Summary

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    Official Symbol
    CAND2provided by HGNC
    Official Full Name
    cullin associated and neddylation dissociated 2 (putative)provided by HGNC
    Primary source
    HGNC:HGNC:30689
    See related
    Ensembl:ENSG00000144712 MIM:610403; AllianceGenome:HGNC:30689
    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
    Tp120b; TIP120B
    Summary
    Predicted to enable TBP-class protein binding activity. Predicted to be involved in SCF complex assembly; positive regulation of DNA-templated transcription; and protein ubiquitination. Located in cytosol. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in heart (RPKM 9.1), testis (RPKM 8.9) and 16 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CAND2 in Genome Data Viewer
    Location:
    3p25.2
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (12796680..12834803)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (12798170..12836312)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (12838179..12876302)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:12779747-12780569 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19451 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14067 Neighboring gene transmembrane protein 40 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19452 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14068 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19453 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:12800761-12801346 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14069 Neighboring gene keratin 18 pseudogene 17 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:12845071-12845571 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14070 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:12855381-12855561 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:12871622-12872570 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:12881424-12882362 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:12882363-12883299 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19454 Neighboring gene ribosomal protein L32 Neighboring gene small nucleolar RNA, H/ACA box 7A Neighboring gene uncharacterized LOC124909346 Neighboring gene microtubule affinity regulating kinase 3 pseudogene 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 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. Muscle-specific Cand2 is translationally upregulated by mTORC1 and promotes adverse cardiac remodeling. Górska AA, et al. EMBO Rep, 2021 Dec 6. PMID 34605609, Free PMC Article
    2. Detecting epistasis within chromatin regulatory circuitry reveals CAND2 as a novel susceptibility gene for obesity. Dong SS, et al. Int J Obes (Lond), 2019 Mar. PMID 29717274, Free PMC Article
    3. USP9X deubiquitinates and stabilizes CDC123 to promote breast carcinogenesis through regulating cell cycle. Song N, et al. Mol Carcinog, 2023 Oct. PMID 37314216
    4. Evaluation of CAND2 and WNT7a as candidate genes for congenital idiopathic clubfoot. Shyy W, et al. Clin Orthop Relat Res, 2009 May. PMID 19159115, Free PMC Article
    5. Interplay between two myogenesis-related proteins: TBP-interacting protein 120B and MyoD. Suzuki H, et al. Gene, 2012 Aug 10. PMID 22613845

    See all (60) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Muscle-specific Cand2 is translationally upregulated by mTORC1 and promotes adverse cardiac remodeling.
      Title: Muscle-specific Cand2 is translationally upregulated by mTORC1 and promotes adverse cardiac remodeling.
    2. The work developed the tool and performed "interaction analyses within chromatin regulatory circuitry" (IACRC); analysis found CAND2 may be a novel obesity susceptibility gene.
      Title: Detecting epistasis within chromatin regulatory circuitry reveals CAND2 as a novel susceptibility gene for obesity.
    3. NEURL rs12415501 and CAND2 rs4642101 are significantly associated with postoperative atrial fibrillation susceptibility after coronary artery bypass grafting among Chinese population
      Title: NEURL rs6584555 and CAND2 rs4642101 contribute to postoperative atrial fibrillation: a prospective study among Chinese population.
    4. results suggest that MyoD and TIP120B potentiate each other at gene expression and post-translation levels, respectively, which may promote myogenesis cooperatively
      Title: Interplay between two myogenesis-related proteins: TBP-interacting protein 120B and MyoD.
    5. Based on these results it is unlikely CAND2 and WNT7a are the major genes that causes clubfoot.
      Title: Evaluation of CAND2 and WNT7a as candidate genes for congenital idiopathic clubfoot.
    6. Observational study of gene-disease association. (HuGE Navigator)
      Title: Evaluation of CAND2 and WNT7a as candidate genes for congenital idiopathic clubfoot.
    7. TIP120B is a specific substrate of KIAA10; both are highly expressed in human skeletal muscle, suggesting that KIAA10 may regulate TIP120B homeostasis specifically in this tissue.
      Title: Proteolytic targeting of transcriptional regulator TIP120B by a HECT domain E3 ligase.
    8. TIP120B was induced in C2C12 myoblasts when these cells differentiated into myotubes (TIP120B).
      Title: TBP-interacting protein 120B, which is induced in relation to myogenesis, binds to NOT3.
    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

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    integrase gag-pol HIV-1 IN is identified to have a physical interaction with Cullin-associated and neddylation-dissociated 2 (CAND2) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0667

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables TBP-class protein binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in SCF complex assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of DNA-templated transcription ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in protein ubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    cullin-associated NEDD8-dissociated protein 2
    Names
    TBP interacting protein
    TBP-interacting protein 120B
    TBP-interacting protein of 120 kDa B
    cullin-associated and neddylation-dissociated protein 2
    epididymis secretory sperm binding protein
    epididymis tissue protein Li 169
    p120 CAND2

    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_001162499.2 → NP_001155971.1  cullin-associated NEDD8-dissociated protein 2 isoform 1

      See identical proteins and their annotated locations for NP_001155971.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AB014567, BC136592, BX502783, DR001490, W44800
      Consensus CDS
      CCDS54554.1
      UniProtKB/Swiss-Prot
      B9EGM9, E9KL24, O75155
      UniProtKB/TrEMBL
      A0A384MDT0
      Related
      ENSP00000387641.2, ENST00000456430.6
      Conserved Domains (4) summary
      pfam08623
      Location:1058 → 1207
      TIP120; TATA-binding protein interacting (TIP20)
      pfam13513
      Location:150 → 202
      HEAT_EZ; HEAT-like repeat
      pfam13646
      Location:834 → 908
      HEAT_2; HEAT repeats
      sd00044
      Location:864 → 887
      HEAT; HEAT repeat [structural motif]

    2. NM_012298.3 → NP_036430.1  cullin-associated NEDD8-dissociated protein 2 isoform 2

      See identical proteins and their annotated locations for NP_036430.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) is missing two in-frame coding exons, and uses an alternate in-frame acceptor splice site at one of the coding exons, compared to variant 1. This results in a shorter isoform (2) lacking two internal protein segments compared to isoform 1.
      Source sequence(s)
      AB014567, BC136592, BX502783, DR001490, W44800
      Consensus CDS
      CCDS43053.1
      UniProtKB/TrEMBL
      A0A384MDT0
      Related
      ENSP00000295989.5, ENST00000295989.9
      Conserved Domains (3) summary
      pfam08623
      Location:941 → 1090
      TIP120; TATA-binding protein interacting (TIP20)
      pfam13646
      Location:741 → 815
      HEAT_2; HEAT repeats
      sd00044
      Location:701 → 725
      HEAT; HEAT repeat [structural motif]

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      12796680..12834803
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011533503.3 → XP_011531805.1  cullin-associated NEDD8-dissociated protein 2 isoform X1

      UniProtKB/TrEMBL
      A0A384MDT0
      Conserved Domains (4) summary
      pfam08623
      Location:1058 → 1136
      TIP120; TATA-binding protein interacting (TIP20)
      pfam13513
      Location:150 → 202
      HEAT_EZ; HEAT-like repeat
      pfam13646
      Location:834 → 908
      HEAT_2; HEAT repeats
      sd00044
      Location:864 → 887
      HEAT; HEAT repeat [structural motif]

    2. XM_011533504.3 → XP_011531806.1  cullin-associated NEDD8-dissociated protein 2 isoform X2

      UniProtKB/TrEMBL
      A0A384MDT0
      Conserved Domains (4) summary
      pfam08623
      Location:1034 → 1183
      TIP120; TATA-binding protein interacting (TIP20)
      pfam13513
      Location:126 → 178
      HEAT_EZ; HEAT-like repeat
      pfam13646
      Location:810 → 884
      HEAT_2; HEAT repeats
      sd00044
      Location:840 → 863
      HEAT; HEAT repeat [structural motif]

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      12798170..12836312
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054345757.1 → XP_054201732.1  cullin-associated NEDD8-dissociated protein 2 isoform X1

    2. XM_054345756.1 → XP_054201731.1  cullin-associated NEDD8-dissociated protein 2 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O75155.3 GenPept UniProtKB/Swiss-Prot:O75155

    Gene LinkOut

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

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