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

Summary

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 transcription, DNA-templated; and protein ubiquitination. Located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]
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

Location:: 3p25.2

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (12796680..12834803)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (12798170..12836312)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (12838179..12876302)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
Observational study of gene-disease association. (HuGE Navigator)
Title: Evaluation of CAND2 and WNT7a as candidate genes for congenital idiopathic clubfoot.
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.
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.

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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

SHGC-32188 (e-PCR)
- UniSTS:21429

WI-21041 (e-PCR)
- UniSTS:70105

RH93304 (e-PCR)
- UniSTS:86493

SHGC-76713 (e-PCR)
- UniSTS:81395

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)

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]
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_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

12796680..12834803

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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]
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

NC_060927.1 Alternate T2T-CHM13v2.0

Range

12798170..12836312

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054345757.1 → XP_054201732.1 cullin-associated NEDD8-dissociated protein 2 isoform X1
XM_054345756.1 → XP_054201731.1 cullin-associated NEDD8-dissociated protein 2 isoform X2