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KLHDC2 kelch domain containing 2 [ Homo sapiens (human) ]

Gene ID: 23588, updated on 11-Apr-2024

Summary

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Official Symbol
KLHDC2provided by HGNC
Official Full Name
kelch domain containing 2provided by HGNC
Primary source
HGNC:HGNC:20231
See related
Ensembl:ENSG00000165516 MIM:611280; AllianceGenome:HGNC:20231
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
LCP; HCLP1; HCLP-1
Summary
Enables ubiquitin ligase-substrate adaptor activity. Involved in ubiquitin-dependent protein catabolic process via the C-end degron rule pathway. Located in nuclear body and nuclear membrane. Is active in Cul2-RING ubiquitin ligase complex and nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in thyroid (RPKM 22.9), kidney (RPKM 22.5) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
14q21.3
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (49768153..49786385)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (43973946..43992177)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (50234871..50253103)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene DNA polymerase epsilon 2, accessory subunit Neighboring gene RNA, U6atac small nuclear 30, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:50154169-50154930 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:50154931-50155690 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5703 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5704 Neighboring gene kelch domain containing 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:50184541-50185042 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5706 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5705 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5707 Neighboring gene nuclear export mediator factor Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr14:50288374-50289106 Neighboring gene RNA, U6 small nuclear 539, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8322 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5708 Neighboring gene RNA component of signal recognition particle 7SL3

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. C-Terminal End-Directed Protein Elimination by CRL2 Ubiquitin Ligases. Lin HC, et al. Mol Cell, 2018 May 17. PMID 29775578, Free PMC Article
  2. Differential subcellular localization and activity of kelch repeat proteins KLHDC1 and KLHDC2. Chin KT, et al. Mol Cell Biochem, 2007 Feb. PMID 16964437
  3. Recognition of the Diglycine C-End Degron by CRL2(KLHDC2) Ubiquitin Ligase. Rusnac DV, et al. Mol Cell, 2018 Dec 6. PMID 30526872, Free PMC Article
  4. Inhibition of LZIP-mediated transcription through direct interaction with a novel host cell factor-like protein. Zhou HJ, et al. J Biol Chem, 2001 Aug 3. PMID 11384994
  5. SELENOPROTEINS. CRL2 aids elimination of truncated selenoproteins produced by failed UGA/Sec decoding. Lin HC, et al. Science, 2015 Jul 3. PMID 26138980, Free PMC Article

See all (33) citations in PubMed

GeneRIFs: Gene References Into Functions

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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Replication interactions

Interaction Pubs
Knockdown of kelch domain containing 2 (KLHDC2) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells 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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables ubiquitin-like ligase-substrate adaptor activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein ubiquitination IEA
Inferred from Electronic Annotation
more info
  
involved_in ubiquitin-dependent protein catabolic process via the C-end degron rule pathway IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
part_of Cul2-RING ubiquitin ligase complex IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nuclear body IDA
Inferred from Direct Assay
more info
  
located_in nuclear membrane IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
is_active_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
kelch domain-containing protein 2
Names
hepatocellular carcinoma-associated antigen 33
host cell factor homolog LCP
host cell factor-like protein 1

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_014315.3 → NP_055130.1  kelch domain-containing protein 2

    See identical proteins and their annotated locations for NP_055130.1

    Status: VALIDATED

    Source sequence(s)
    AL591767, KF459555
    Consensus CDS
    CCDS9693.1
    UniProtKB/Swiss-Prot
    B3KPF9, Q6IAF0, Q86TY9, Q9Y2U9
    UniProtKB/TrEMBL
    G3V3U8
    Related
    ENSP00000298307.5, ENST00000298307.10
    Conserved Domains (3) summary
    PLN02193
    Location:29 → 296
    PLN02193; nitrile-specifier protein
    sd00038
    Location:218 → 265
    Kelch; KELCH repeat [structural motif]
    pfam13415
    Location:279 → 326
    Kelch_3; Galactose oxidase, central domain

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_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    49768153..49786385
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006720094.5 → XP_006720157.1  kelch domain-containing protein 2 isoform X1

    See identical proteins and their annotated locations for XP_006720157.1

    UniProtKB/TrEMBL
    G3V3U8
    Related
    ENSP00000451439.1, ENST00000554589.5
    Conserved Domains (3) summary
    PLN02193
    Location:29 → 296
    PLN02193; nitrile-specifier protein
    sd00038
    Location:218 → 265
    Kelch; KELCH repeat [structural motif]
    pfam13415
    Location:279 → 326
    Kelch_3; Galactose oxidase, central domain

  2. XM_011536610.2 → XP_011534912.1  kelch domain-containing protein 2 isoform X2

    Conserved Domains (3) summary
    PLN02193
    Location:59 → 241
    PLN02193; nitrile-specifier protein
    sd00038
    Location:146 → 193
    Kelch; KELCH repeat [structural motif]
    pfam13854
    Location:16 → 53
    Kelch_5; Kelch motif

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    43973946..43992177
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054375732.1 → XP_054231707.1  kelch domain-containing protein 2 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9Y2U9.1 GenPept UniProtKB/Swiss-Prot:Q9Y2U9

Gene LinkOut

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