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

    Gene ID: 23588, updated on 2-Nov-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-like 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, Nov 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 22.9), kidney (RPKM 22.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See KLHDC2 in Genome Data Viewer
    Location:
    14q21.3
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (49768153..49786385)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (43973946..43992177)
    RS_2024_09 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 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

    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_2024_08

    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

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

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