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ZBTB40 zinc finger and BTB domain containing 40 [ Homo sapiens (human) ]

Gene ID: 9923, updated on 23-Nov-2021

Summary

Official Symbol
ZBTB40provided by HGNC
Official Full Name
zinc finger and BTB domain containing 40provided by HGNC
Primary source
HGNC:HGNC:29045
See related
Ensembl:ENSG00000184677 MIM:612106
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
ZNF923
Expression
Ubiquitous expression in lymph node (RPKM 6.6), spleen (RPKM 6.6) and 25 other tissues See more
Orthologs
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Genomic context

See ZBTB40 in Genome Data Viewer
Location:
1p36.12
Exon count:
21
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (22428838..22531154)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (22778344..22857647)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene microRNA 4418 Neighboring gene uncharacterized LOC105376856 Neighboring gene Sharpr-MPRA regulatory region 2075 Neighboring gene EPH receptor A8 Neighboring gene Sharpr-MPRA regulatory region 15208

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

Associated conditions

Description Tests
Genome-wide association study link novel loci to endometriosis.
GeneReviews: Not available
Genome-wide association study using extreme truncate selection identifies novel genes affecting bone mineral density and fracture risk.
GeneReviews: Not available
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
GeneReviews: Not available
Multiple genetic loci for bone mineral density and fractures.
GeneReviews: Not available
Multistage genome-wide association meta-analyses identified two new loci for bone mineral density.
GeneReviews: Not available
Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0478, MGC133098

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables molecular_function ND
No biological Data available
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in bone mineralization NAS
Non-traceable Author Statement
more info
PubMed 
involved_in cellular response to DNA damage stimulus IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
zinc finger and BTB domain-containing protein 40

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_001083621.2NP_001077090.1  zinc finger and BTB domain-containing protein 40 isoform a

    See identical proteins and their annotated locations for NP_001077090.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Both variants 1 and 2 encode the same isoform (a).
    Source sequence(s)
    AK091019, AL035703, AL358788, BC114607, DA248977
    Consensus CDS
    CCDS224.1
    UniProtKB/Swiss-Prot
    Q9NUA8
    UniProtKB/TrEMBL
    B3KR52, Q1RMZ5
    Related
    ENSP00000384527.1, ENST00000404138.5
    Conserved Domains (6) summary
    smart00225
    Location:25113
    BTB; Broad-Complex, Tramtrack and Bric a brac
    COG5048
    Location:794970
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:838858
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00019
    Location:952970
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00651
    Location:19113
    BTB; BTB/POZ domain
    pfam13465
    Location:907932
    zf-H2C2_2; Zinc-finger double domain
  2. NM_001330398.2NP_001317327.1  zinc finger and BTB domain-containing protein 40 isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and lacks two alternate in-frame exons compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
    Source sequence(s)
    AL035703, AL358788
    Consensus CDS
    CCDS81278.1
    UniProtKB/TrEMBL
    F8WAI8
    Related
    ENSP00000363782.4, ENST00000374651.8
    Conserved Domains (6) summary
    COG5048
    Location:682858
    COG5048; FOG: Zn-finger [General function prediction only]
    COG5189
    Location:805919
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
    sd00017
    Location:726746
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00019
    Location:840858
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00651
    Location:19113
    BTB; BTB/POZ domain
    cl28408
    Location:150231
    UBQ; Ubiquitin homologues
  3. NM_014870.4NP_055685.3  zinc finger and BTB domain-containing protein 40 isoform a

    See identical proteins and their annotated locations for NP_055685.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same isoform (a).
    Source sequence(s)
    AL035703, BC114607, DA248977, DA787818
    Consensus CDS
    CCDS224.1
    UniProtKB/Swiss-Prot
    Q9NUA8
    UniProtKB/TrEMBL
    Q1RMZ5
    Related
    ENSP00000364798.4, ENST00000375647.5
    Conserved Domains (6) summary
    smart00225
    Location:25113
    BTB; Broad-Complex, Tramtrack and Bric a brac
    COG5048
    Location:794970
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:838858
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00019
    Location:952970
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00651
    Location:19113
    BTB; BTB/POZ domain
    pfam13465
    Location:907932
    zf-H2C2_2; Zinc-finger double domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    22428838..22531154
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011542499.2XP_011540801.1  zinc finger and BTB domain-containing protein 40 isoform X1

    See identical proteins and their annotated locations for XP_011540801.1

    UniProtKB/Swiss-Prot
    Q9NUA8
    Conserved Domains (6) summary
    smart00225
    Location:25113
    BTB; Broad-Complex, Tramtrack and Bric a brac
    COG5048
    Location:794970
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:838858
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00019
    Location:952970
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00651
    Location:19113
    BTB; BTB/POZ domain
    pfam13465
    Location:907932
    zf-H2C2_2; Zinc-finger double domain
  2. XM_024451297.1XP_024307065.1  zinc finger and BTB domain-containing protein 40 isoform X2

    Conserved Domains (6) summary
    COG5048
    Location:682858
    COG5048; FOG: Zn-finger [General function prediction only]
    COG5189
    Location:805919
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
    sd00017
    Location:726746
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00019
    Location:840858
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00651
    Location:19113
    BTB; BTB/POZ domain
    cl28408
    Location:150231
    UBQ; Ubiquitin homologues
  3. XM_011542500.2XP_011540802.1  zinc finger and BTB domain-containing protein 40 isoform X3

    Conserved Domains (4) summary
    COG5048
    Location:217393
    COG5048; FOG: Zn-finger [General function prediction only]
    COG5189
    Location:340454
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
    sd00017
    Location:261281
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00019
    Location:375392
    ZF_C2H2; C2H2 Zn finger [structural motif]

RNA

  1. XR_946804.1 RNA Sequence

  2. XR_946805.1 RNA Sequence

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