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KLHL23 kelch like family member 23 [ Homo sapiens (human) ]

Gene ID: 151230, updated on 5-Mar-2024

Summary

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Official Symbol
KLHL23provided by HGNC
Official Full Name
kelch like family member 23provided by HGNC
Primary source
HGNC:HGNC:27506
See related
Ensembl:ENSG00000213160 AllianceGenome:HGNC:27506
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
DITHP
Expression
Ubiquitous expression in endometrium (RPKM 12.1), brain (RPKM 7.8) and 22 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
2q31.1
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (169733832..169751878)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (170213406..170231829)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (170590342..170608388)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene PHOSPHO2-KLHL23 readthrough Neighboring gene uncharacterized LOC124906089 Neighboring gene small nucleolar RNA SNORA51 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12083 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12084 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12085 Neighboring gene thioredoxin 1 pseudogene 7 Neighboring gene patched domain containing 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
  • 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. Downregulation of two novel genes in Sl/Sld and W(LacZ)/Wv mouse jejunum. Wouters MM, et al. Biochem Biophys Res Commun, 2006 Jul 28. PMID 16765319
  2. A novel missense variant in CUL3 shows altered binding ability to BTB-adaptor proteins leading to diverse phenotypes of CUL3-related disorders. Kato K, et al. J Hum Genet, 2021 May. PMID 33130828
  3. Update on the Kelch-like (KLHL) gene family. Dhanoa BS, et al. Hum Genomics, 2013 May 15. PMID 23676014, Free PMC Article
  4. Novel CUL3 Variant Causing Familial Hyperkalemic Hypertension Impairs Regulation and Function of Ubiquitin Ligase Activity. Chatrathi HE, et al. Hypertension, 2022 Jan. PMID 34878901, Free PMC Article
  5. Mapping the interactome of HPV E6 and E7 oncoproteins with the ubiquitin-proteasome system. Poirson J, et al. FEBS J, 2017 Oct. PMID 28786561

See all (24) 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

EBI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Readthrough PHOSPHO2-KLHL23

Readthrough gene: PHOSPHO2-KLHL23, Included gene: PHOSPHO2

Homology

Clone Names

  • MGC2610, FLJ37812, FLJ41460, MGC22679

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 

General protein information

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Preferred Names
kelch-like protein 23
Names
kelch-like 23

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_144711.6 → NP_653312.2  kelch-like protein 23

    See identical proteins and their annotated locations for NP_653312.2

    Status: VALIDATED

    Source sequence(s)
    AC009967, BC010437, BE326381, BJ990781
    UniProtKB/Swiss-Prot
    Q8N9B9, Q8NBE8, Q96FT8
    Related
    ENSP00000376419.2, ENST00000392647.7
    Conserved Domains (4) summary
    PHA03098
    Location:45 → 545
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:359 → 402
    Kelch; KELCH repeat [structural motif]
    cd18252
    Location:15 → 141
    BTB_POZ_KLHL23; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch-like protein 23 (KLHL23)
    cd18462
    Location:134 → 235
    BACK_KLHL23; BACK (BTB and C-terminal Kelch) domain found in Kelch-like protein 23 (KLHL23)

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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    169733832..169751878
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    170213406..170231829
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8NBE8.1 GenPept UniProtKB/Swiss-Prot:Q8NBE8

Gene LinkOut

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

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