U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

BTBD16 BTB domain containing 16 [ Homo sapiens (human) ]

Gene ID: 118663, updated on 13-May-2022

Summary

Official Symbol
BTBD16provided by HGNC
Official Full Name
BTB domain containing 16provided by HGNC
Primary source
HGNC:HGNC:26340
See related
Ensembl:ENSG00000138152 AllianceGenome:HGNC:26340
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
C10orf87
Summary
This gene encodes a protein that contains a BTB/POZ domain. This domain mediates protein-protein interactions. A mutation in this gene may be associated with bipolar disorder. [provided by RefSeq, Sep 2016]
Expression
Biased expression in urinary bladder (RPKM 4.3), testis (RPKM 2.5) and 2 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See BTBD16 in Genome Data Viewer
Location:
10q26.13
Exon count:
16
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (122271296..122338159)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (123167581..123234437)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (124030811..124097674)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene transforming acidic coiled-coil containing protein 2 Neighboring gene Sharpr-MPRA regulatory regions 1076 and 11287 Neighboring gene uncharacterized LOC124902518 Neighboring gene Sharpr-MPRA regulatory region 8473 Neighboring gene RNA, U6 small nuclear 728, pseudogene Neighboring gene pleckstrin homology domain containing A1 Neighboring gene microRNA 3941

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

EBI GWAS Catalog

Description
Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Clone Names

  • FLJ25359, MGC129864, MGC129865

General protein information

Preferred Names
BTB/POZ domain-containing protein 16

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_051638.1 RefSeqGene

    Range
    5552..72426
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001318189.3NP_001305118.1  BTB/POZ domain-containing protein 16 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    BC109262, DB052430, DB338661
    UniProtKB/Swiss-Prot
    Q32M84
  2. NM_144587.5NP_653188.2  BTB/POZ domain-containing protein 16 isoform b

    See identical proteins and their annotated locations for NP_653188.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in an isoform (b) that is 1 aa shorter than isoform a.
    Source sequence(s)
    AK058088, DB052430
    Consensus CDS
    CCDS31301.1
    UniProtKB/Swiss-Prot
    Q32M84
    Related
    ENSP00000260723.4, ENST00000260723.6

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    122271296..122338159
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011539239.3XP_011537541.1  BTB/POZ domain-containing protein 16 isoform X1

  2. XM_011539241.3XP_011537543.1  BTB/POZ domain-containing protein 16 isoform X3

  3. XM_011539242.3XP_011537544.1  BTB/POZ domain-containing protein 16 isoform X4

  4. XM_011539240.3XP_011537542.1  BTB/POZ domain-containing protein 16 isoform X2

  5. XM_017015637.2XP_016871126.1  BTB/POZ domain-containing protein 16 isoform X5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    123167581..123234437
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)