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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
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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. 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
  4. Interplay between two myogenesis-related proteins: TBP-interacting protein 120B and MyoD. Suzuki H, et al. Gene, 2012 Aug 10. PMID 22613845
  5. NEURL rs6584555 and CAND2 rs4642101 contribute to postoperative atrial fibrillation: a prospective study among Chinese population. Wei T, et al. Oncotarget, 2016 Jul 5. PMID 27203392, Free PMC Article

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)

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

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