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BTBD11 BTB domain containing 11 [ Homo sapiens (human) ]

Gene ID: 121551, updated on 1-Jun-2020

Summary

Official Symbol
BTBD11provided by HGNC
Official Full Name
BTB domain containing 11provided by HGNC
Primary source
HGNC:HGNC:23844
See related
Ensembl:ENSG00000151136
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
ABTB2B
Expression
Biased expression in esophagus (RPKM 5.5), thyroid (RPKM 5.2) and 13 other tissues See more
Orthologs

Genomic context

See BTBD11 in Genome Data Viewer
Location:
12q23.3
Exon count:
21
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (107316749..107659642)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (107712197..108053419)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 11431 Neighboring gene SET pseudogene 7 Neighboring gene RNA, 5S ribosomal pseudogene 371 Neighboring gene ribosomal protein L17 pseudogene 38 Neighboring gene PWP1 homolog, endonuclein

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.
NHGRI GWA Catalog
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
NHGRI GWA Catalog
Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ33957, FLJ42845

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein heterodimerization activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
SMAD protein signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
ankyrin repeat and BTB/POZ domain-containing protein BTBD11
Names
ANK-repeat BTB domain containing protein
BTB (POZ) domain containing 11
BTB/POZ domain-containing protein 11

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.

Genomic

  1. NG_052621.1 RefSeqGene

    Range
    6267..347475
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001017523.2NP_001017523.1  ankyrin repeat and BTB/POZ domain-containing protein BTBD11 isoform b

    See identical proteins and their annotated locations for NP_001017523.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (b) lacks several coding exons and has an alternate 5'-terminal exon, compared to variant a. The encoded isoform (b) has a shorter and distinct N-terminus, as compared to isoform a.
    Source sequence(s)
    AK122818, AK127295
    Consensus CDS
    CCDS41827.1
    UniProtKB/Swiss-Prot
    A6QL63
    UniProtKB/TrEMBL
    B3KVD0
    Related
    ENSP00000349690.4, ENST00000357167.8
    Conserved Domains (3) summary
    cd00204
    Location:135288
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    sd00045
    Location:143184
    ANK; ANK repeat [structural motif]
    pfam00651
    Location:452559
    BTB; BTB/POZ domain
  2. NM_001018072.2NP_001018082.1  ankyrin repeat and BTB/POZ domain-containing protein BTBD11 isoform a

    See identical proteins and their annotated locations for NP_001018082.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (a) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AI638039, AK122818, AK124835, AK127012, BC027931
    Consensus CDS
    CCDS31893.1
    UniProtKB/Swiss-Prot
    A6QL63
    UniProtKB/TrEMBL
    B3KVD0, B3KXB0
    Related
    ENSP00000280758.5, ENST00000280758.10
    Conserved Domains (7) summary
    smart00225
    Location:9241022
    BTB; Broad-Complex, Tramtrack and Bric a brac
    cd00204
    Location:598751
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam00651
    Location:9151018
    BTB; BTB/POZ domain
    pfam12796
    Location:608716
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:580624
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:606647
    ANK; ANK repeat [structural motif]
    cl23907
    Location:200244
    H2A; Histone 2A; H2A is a subunit of the nucleosome. The nucleosome is an octamer containing two H2A, H2B, H3, and H4 subunits. The H2A subunit performs essential roles in maintaining structural integrity of the nucleosome, chromatin condensation, and binding ...
  3. NM_001347943.2NP_001334872.1  ankyrin repeat and BTB/POZ domain-containing protein BTBD11 isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (c) lacks an alternate in-frame segment compared to variant a. The resulting isoform (c) has the same N- and C-termini but is shorter compared to isoform a.
    Source sequence(s)
    AC007540, AC007649
    Consensus CDS
    CCDS86332.1
    UniProtKB/Swiss-Prot
    A6QL63
    Related
    ENSP00000413889.2, ENST00000420571.6
  4. NM_001347944.1NP_001334873.1  ankyrin repeat and BTB/POZ domain-containing protein BTBD11 isoform d

    Status: VALIDATED

    Description
    Transcript Variant: This variant (d) differs in the 5' UTR and coding sequence compared to variant a. The resulting isoform (d) has a shorter and distinct N-terminus compared to isoform a.
    Source sequence(s)
    AC007540, AC007649

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    107316749..107659642
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017018807.2XP_016874296.1  ankyrin repeat and BTB/POZ domain-containing protein BTBD11 isoform X1

  2. XM_011537910.3XP_011536212.1  ankyrin repeat and BTB/POZ domain-containing protein BTBD11 isoform X3

    Conserved Domains (7) summary
    smart00225
    Location:558656
    BTB; Broad-Complex, Tramtrack and Bric a brac
    cd00204
    Location:232385
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam00651
    Location:549652
    BTB; BTB/POZ domain
    pfam12796
    Location:242350
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:324385
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:240281
    ANK; ANK repeat [structural motif]
    cl06652
    Location:656704
    BACK_like; BTB-And-C-terminal-Kelch (BACK) domain and similar domains
  3. XM_011537909.2XP_011536211.1  ankyrin repeat and BTB/POZ domain-containing protein BTBD11 isoform X2

    Conserved Domains (6) summary
    smart00225
    Location:577675
    BTB; Broad-Complex, Tramtrack and Bric a brac
    cd00204
    Location:251404
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam00651
    Location:568671
    BTB; BTB/POZ domain
    pfam12796
    Location:261369
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:343404
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:259300
    ANK; ANK repeat [structural motif]
  4. XM_005268645.3XP_005268702.1  ankyrin repeat and BTB/POZ domain-containing protein BTBD11 isoform X4

    Conserved Domains (7) summary
    smart00225
    Location:547645
    BTB; Broad-Complex, Tramtrack and Bric a brac
    cd00204
    Location:221374
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam00651
    Location:538641
    BTB; BTB/POZ domain
    pfam12796
    Location:231339
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:313374
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:229270
    ANK; ANK repeat [structural motif]
    cl06652
    Location:645693
    BACK_like; BTB-And-C-terminal-Kelch (BACK) domain and similar domains

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_152322.2: Suppressed sequence

    Description
    NM_152322.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
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