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KBTBD2 kelch repeat and BTB domain containing 2 [ Homo sapiens (human) ]

Gene ID: 25948, updated on 24-Nov-2020

Summary

Official Symbol
KBTBD2provided by HGNC
Official Full Name
kelch repeat and BTB domain containing 2provided by HGNC
Primary source
HGNC:HGNC:21751
See related
Ensembl:ENSG00000170852
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
BKLHD1
Expression
Ubiquitous expression in gall bladder (RPKM 16.7), bone marrow (RPKM 14.7) and 25 other tissues See more
Orthologs

Genomic context

See KBTBD2 in Genome Data Viewer
Location:
7p14.3
Exon count:
6
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (32868172..32892144, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (32907778..32931468, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 997 Neighboring gene DPY19L1 pseudogene 2 Neighboring gene RP9 pseudogene Neighboring gene FKBP prolyl isomerase 9 Neighboring gene RNA, U6 small nuclear 388, pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

General protein information

Preferred Names
kelch repeat and BTB domain-containing protein 2
Names
BTB and kelch domain containing 1
BTB and kelch domain-containing protein 1
kelch repeat and BTB (POZ) domain containing 2

NCBI Reference Sequences (RefSeq)

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_015483.3NP_056298.2  kelch repeat and BTB domain-containing protein 2

    See identical proteins and their annotated locations for NP_056298.2

    Status: VALIDATED

    Source sequence(s)
    AC018648, BC037887
    Consensus CDS
    CCDS34614.1
    UniProtKB/Swiss-Prot
    Q8IY47
    UniProtKB/TrEMBL
    A0A024RA38
    Related
    ENSP00000302586.4, ENST00000304056.9
    Conserved Domains (4) summary
    PHA03098
    Location:23516
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:310366
    Kelch; KELCH repeat [structural motif]
    cd18270
    Location:5137
    BTB_POZ_KBTBD2_BKLHD1; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch repeat and BTB domain-containing protein 2 (KBTBD2)
    cd18479
    Location:128223
    BACK_KBTBD2; BACK (BTB and C-terminal Kelch) domain found in Kelch repeat and BTB domain-containing protein 2 (KBTBD2)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    32868172..32892144 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011515256.2XP_011513558.1  kelch repeat and BTB domain-containing protein 2 isoform X1

    See identical proteins and their annotated locations for XP_011513558.1

    UniProtKB/Swiss-Prot
    Q8IY47
    UniProtKB/TrEMBL
    A0A024RA38
    Conserved Domains (4) summary
    PHA03098
    Location:23516
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:310366
    Kelch; KELCH repeat [structural motif]
    cd18270
    Location:5137
    BTB_POZ_KBTBD2_BKLHD1; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch repeat and BTB domain-containing protein 2 (KBTBD2)
    cd18479
    Location:128223
    BACK_KBTBD2; BACK (BTB and C-terminal Kelch) domain found in Kelch repeat and BTB domain-containing protein 2 (KBTBD2)
  2. XM_005249696.2XP_005249753.1  kelch repeat and BTB domain-containing protein 2 isoform X1

    See identical proteins and their annotated locations for XP_005249753.1

    UniProtKB/Swiss-Prot
    Q8IY47
    UniProtKB/TrEMBL
    A0A024RA38
    Conserved Domains (4) summary
    PHA03098
    Location:23516
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:310366
    Kelch; KELCH repeat [structural motif]
    cd18270
    Location:5137
    BTB_POZ_KBTBD2_BKLHD1; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch repeat and BTB domain-containing protein 2 (KBTBD2)
    cd18479
    Location:128223
    BACK_KBTBD2; BACK (BTB and C-terminal Kelch) domain found in Kelch repeat and BTB domain-containing protein 2 (KBTBD2)
  3. XM_011515257.2XP_011513559.1  kelch repeat and BTB domain-containing protein 2 isoform X2

    See identical proteins and their annotated locations for XP_011513559.1

    Conserved Domains (4) summary
    PHA03098
    Location:27458
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:252308
    Kelch; KELCH repeat [structural motif]
    cd18479
    Location:70165
    BACK_KBTBD2; BACK (BTB and C-terminal Kelch) domain found in Kelch repeat and BTB domain-containing protein 2 (KBTBD2)
    cl38908
    Location:179
    BTB_POZ; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain superfamily
  4. XM_005249697.2XP_005249754.1  kelch repeat and BTB domain-containing protein 2 isoform X2

    See identical proteins and their annotated locations for XP_005249754.1

    Conserved Domains (4) summary
    PHA03098
    Location:27458
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:252308
    Kelch; KELCH repeat [structural motif]
    cd18479
    Location:70165
    BACK_KBTBD2; BACK (BTB and C-terminal Kelch) domain found in Kelch repeat and BTB domain-containing protein 2 (KBTBD2)
    cl38908
    Location:179
    BTB_POZ; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain superfamily
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