ZBTB11 zinc finger and BTB domain containing 11 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ZBTB11provided by HGNC
Official Full Name: zinc finger and BTB domain containing 11provided by HGNC
Primary source: HGNC:HGNC:16740
See related: Ensembl:ENSG00000066422 MIM:618181; AllianceGenome:HGNC:16740
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: MRT69; ZNF913; ZNF-U69274
Summary: Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of DNA-templated transcription. Located in nucleoplasm. Implicated in autosomal recessive intellectual developmental disorder 69. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in bone marrow (RPKM 8.1), testis (RPKM 5.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3q12.3

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (101648889..101677132, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (104361496..104389742, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (101367733..101395976, complement)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders.
Title: Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders.
Oncoprotein SET-associated transcription factor ZBTB11 triggers lung cancer metastasis.
Title: Oncoprotein SET-associated transcription factor ZBTB11 triggers lung cancer metastasis.
The BTB transcription factors ZBTB11 and ZFP131 maintain pluripotency by repressing pro-differentiation genes.
Title: The BTB transcription factors ZBTB11 and ZFP131 maintain pluripotency by repressing pro-differentiation genes.
Intellectual disability-associated factor Zbtb11 cooperates with NRF-2/GABP to control mitochondrial function.
Title: Intellectual disability-associated factor Zbtb11 cooperates with NRF-2/GABP to control mitochondrial function.
we report two ID families segregating ZBTB11 biallelic mutations disrupting Zn2+-binding motifs and provide functional evidence linking ZBTB11 dysfunction to this phenotype
Title: Biallelic missense variants in ZBTB11 can cause intellectual disability in humans.

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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

Associated conditions

Description	Tests
Intellectual developmental disorder, autosomal recessive 69 MedGen: C5193067 OMIM: 618383 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SGC38178 (e-PCR)
- UniSTS:78084

SHGC-77155 (e-PCR)
- UniSTS:52774

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
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in regulation of DNA-templated transcription	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in nucleolus	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: zinc finger and BTB domain-containing protein 11

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)

NM_014415.4 → NP_055230.2 zinc finger and BTB domain-containing protein 11

See identical proteins and their annotated locations for NP_055230.2

Status: VALIDATED

Source sequence(s)

AB208862, AC084198, AI636025, AK312859, BC028062, DA907277

Consensus CDS

CCDS2943.1

UniProtKB/Swiss-Prot

O95625, Q2NKP9

UniProtKB/TrEMBL

A0A994J7A5

Related

ENSP00000326200.4, ENST00000312938.5

Conserved Domains (4) summary

smart00225
Location:215 → 306

BTB; Broad-Complex, Tramtrack and Bric a brac

sd00017
Location:681 → 701

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam00651
Location:204 → 305

BTB; BTB/POZ domain

pfam13465
Location:900 → 923

zf-H2C2_2; Zinc-finger double domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

101648889..101677132 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011512689.3 → XP_011510991.1 zinc finger and BTB domain-containing protein 11 isoform X1

UniProtKB/TrEMBL

A0A8I5KRR0

Related

ENSP00000510736.1, ENST00000688910.1

Conserved Domains (4) summary

smart00225
Location:150 → 241

BTB; Broad-Complex, Tramtrack and Bric a brac

sd00017
Location:616 → 636

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam00651
Location:139 → 240

BTB; BTB/POZ domain

pfam13465
Location:835 → 858

zf-H2C2_2; Zinc-finger double domain
XM_011512690.3 → XP_011510992.1 zinc finger and BTB domain-containing protein 11 isoform X2

UniProtKB/TrEMBL

Q59H97

Conserved Domains (2) summary

sd00017
Location:397 → 417

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam13465
Location:616 → 639

zf-H2C2_2; Zinc-finger double domain

Alternate T2T-CHM13v2.0

Genomic

NC_060927.1 Alternate T2T-CHM13v2.0

Range

104361496..104389742 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054346169.1 → XP_054202144.1 zinc finger and BTB domain-containing protein 11 isoform X1
XM_054346170.1 → XP_054202145.1 zinc finger and BTB domain-containing protein 11 isoform X2