ZBTB21 zinc finger and BTB domain containing 21 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ZBTB21provided by HGNC
Official Full Name: zinc finger and BTB domain containing 21provided by HGNC
Primary source: HGNC:HGNC:13083
See related: Ensembl:ENSG00000173276 MIM:616485; AllianceGenome:HGNC:13083
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: ZNF295
Summary: Enables several functions, including DNA-binding transcription repressor activity, RNA polymerase II-specific; POZ domain binding activity; and methyl-CpG binding activity. Involved in negative regulation of transcription by RNA polymerase II. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in adrenal (RPKM 15.8), gall bladder (RPKM 5.4) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 21q22.3

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	21	NC_000021.9 (41986831..42010360, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	21	NC_060945.1 (40377057..40400598, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	21	NC_000021.8 (43406940..43430469, complement)

Chromosome 21 - NC_000021.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Genotyping was accomplished on Infinium Human610-QUAD version 1. In the ilSIRENTE population, genetic variants in ZNF295 and C2CD2 (rs928874 and rs1788355) on chromosome 21q22.3, were significantly associated with the 4-meter gait speed
Title: Genetic variants associated with physical performance and anthropometry in old age: a genome-wide association study in the ilSIRENTE cohort.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
ZNF295 may be involved in the bi-directional control of gene expression in concert with ZFP161
Title: Novel human BTB/POZ domain-containing zinc finger protein ZNF295 is directly associated with ZFP161.

Submit: New GeneRIF Correction

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

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

D21S1955 (e-PCR)
- UniSTS:5916

SGC44320 (e-PCR)
- UniSTS:13391

ZNF295_9637 (e-PCR)
- UniSTS:468819

Zfp295 (e-PCR), detects polymorphism
- UniSTS:259175

D21S399 (e-PCR)
- UniSTS:147868

G31145 (e-PCR)
- UniSTS:27564

RH93963 (e-PCR)
- UniSTS:91349

SHGC-51809 (e-PCR)
- UniSTS:48861

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 DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables POZ domain binding	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables methyl-CpG binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

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

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: zinc finger and BTB domain-containing protein 21

Names: zinc finger protein 295

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_001098402.2 → NP_001091872.1 zinc finger and BTB domain-containing protein 21 isoform L

See identical proteins and their annotated locations for NP_001091872.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) contains an alternate exon in the 5' UTR compared to variant 5. Variants 1, 2, and 5 encode the longer isoform (L).

Source sequence(s)

AB041014, BP230048

Consensus CDS

CCDS13678.1

UniProtKB/Swiss-Prot

Q5R2W1, Q5R2W2, Q6P4R0, Q9ULJ3

Related

ENSP00000308759.5, ENST00000310826.10

Conserved Domains (6) summary

sd00017
Location:548 → 569

ZF_C2H2; C2H2 Zn finger [structural motif]

sd00019
Location:911 → 931

ZF_C2H2; C2H2 Zn finger [structural motif]

cd18209
Location:12 → 123

BTB_POZ_ZBTB21_ZNF295; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in zinc finger and BTB domain-containing protein 21 (ZBTB21)

pfam00096
Location:670 → 692

zf-C2H2; Zinc finger, C2H2 type

pfam18450
Location:746 → 773

zf_C2H2_6; Zinc Finger domain

cd20908
Location:545 → 598

SUF4-like; N-terminal domain of Oryza sativa transcription factor SUPPRESSOR OF FRI 4 (OsSUF4), Arabidopsis thaliana SUF4 (AtSUF4), and similar proteins
NM_001098403.2 → NP_001091873.1 zinc finger and BTB domain-containing protein 21 isoform S

See identical proteins and their annotated locations for NP_001091873.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and lacks an in-frame segment in the coding region compared to variant 5. Variants 3 and 4 encode isoform S, which is shorter than isoform L.

Source sequence(s)

AB041015, BP230048

Consensus CDS

CCDS42934.1

UniProtKB/Swiss-Prot

Q9ULJ3

Related

ENSP00000381517.3, ENST00000398505.7

Conserved Domains (3) summary

smart00225
Location:31 → 120

BTB; Broad-Complex, Tramtrack and Bric a brac

sd00019
Location:710 → 730

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam00651
Location:20 → 120

BTB; BTB/POZ domain
NM_001320729.2 → NP_001307658.1 zinc finger and BTB domain-containing protein 21 isoform S

Status: VALIDATED

Description

Transcript Variant: This variant (4) differs in the 5' UTR and lacks an in-frame segment in the coding region compared to variant 1. Variants 3 and 4 encode isoform S, which is shorter than isoform L.

Source sequence(s)

AB041015, BC063290, BP230048

Consensus CDS

CCDS42934.1

UniProtKB/Swiss-Prot

Q9ULJ3

Conserved Domains (3) summary

smart00225
Location:31 → 120

BTB; Broad-Complex, Tramtrack and Bric a brac

sd00019
Location:710 → 730

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam00651
Location:20 → 120

BTB; BTB/POZ domain
NM_001320731.2 → NP_001307660.1 zinc finger and BTB domain-containing protein 21 isoform L

Status: VALIDATED

Description

Transcript Variant: This variant (5) represents the longest transcript. Variants 1, 2, and 5 encode the longer isoform (L).

Source sequence(s)

AB041014, AB041015, AJ003669, BC063290, CR933655

Consensus CDS

CCDS13678.1

UniProtKB/Swiss-Prot

Q5R2W1, Q5R2W2, Q6P4R0, Q9ULJ3

Related

ENSP00000381512.1, ENST00000398499.5

Conserved Domains (6) summary

sd00017
Location:548 → 569

ZF_C2H2; C2H2 Zn finger [structural motif]

sd00019
Location:911 → 931

ZF_C2H2; C2H2 Zn finger [structural motif]

cd18209
Location:12 → 123

BTB_POZ_ZBTB21_ZNF295; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in zinc finger and BTB domain-containing protein 21 (ZBTB21)

pfam00096
Location:670 → 692

zf-C2H2; Zinc finger, C2H2 type

pfam18450
Location:746 → 773

zf_C2H2_6; Zinc Finger domain

cd20908
Location:545 → 598

SUF4-like; N-terminal domain of Oryza sativa transcription factor SUPPRESSOR OF FRI 4 (OsSUF4), Arabidopsis thaliana SUF4 (AtSUF4), and similar proteins
NM_020727.5 → NP_065778.3 zinc finger and BTB domain-containing protein 21 isoform L

See identical proteins and their annotated locations for NP_065778.3

Status: VALIDATED

Description

Transcript Variant: This variant (2) contains two alternate exons in the 5' UTR compared to variant 5. Variants 1, 2, and 5 encode the longer isoform (L).

Source sequence(s)

AB041014, BC063290, BP230048

Consensus CDS

CCDS13678.1

UniProtKB/Swiss-Prot

Q5R2W1, Q5R2W2, Q6P4R0, Q9ULJ3

Related

ENSP00000381523.3, ENST00000398511.3

Conserved Domains (6) summary

sd00017
Location:548 → 569

ZF_C2H2; C2H2 Zn finger [structural motif]

sd00019
Location:911 → 931

ZF_C2H2; C2H2 Zn finger [structural motif]

cd18209
Location:12 → 123

BTB_POZ_ZBTB21_ZNF295; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in zinc finger and BTB domain-containing protein 21 (ZBTB21)

pfam00096
Location:670 → 692

zf-C2H2; Zinc finger, C2H2 type

pfam18450
Location:746 → 773

zf_C2H2_6; Zinc Finger domain

cd20908
Location:545 → 598

SUF4-like; N-terminal domain of Oryza sativa transcription factor SUPPRESSOR OF FRI 4 (OsSUF4), Arabidopsis thaliana SUF4 (AtSUF4), and similar proteins

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_000021.9 Reference GRCh38.p14 Primary Assembly

Range

41986831..42010360 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047440793.1 → XP_047296749.1 zinc finger and BTB domain-containing protein 21 isoform X2
XM_011529588.3 → XP_011527890.1 zinc finger and BTB domain-containing protein 21 isoform X1

See identical proteins and their annotated locations for XP_011527890.1

UniProtKB/Swiss-Prot

Q5R2W1, Q5R2W2, Q6P4R0, Q9ULJ3

Conserved Domains (6) summary

sd00017
Location:548 → 569

ZF_C2H2; C2H2 Zn finger [structural motif]

sd00019
Location:911 → 931

ZF_C2H2; C2H2 Zn finger [structural motif]

cd18209
Location:12 → 123

BTB_POZ_ZBTB21_ZNF295; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in zinc finger and BTB domain-containing protein 21 (ZBTB21)

pfam00096
Location:670 → 692

zf-C2H2; Zinc finger, C2H2 type

pfam18450
Location:746 → 773

zf_C2H2_6; Zinc Finger domain

cd20908
Location:545 → 598

SUF4-like; N-terminal domain of Oryza sativa transcription factor SUPPRESSOR OF FRI 4 (OsSUF4), Arabidopsis thaliana SUF4 (AtSUF4), and similar proteins
XM_047440788.1 → XP_047296744.1 zinc finger and BTB domain-containing protein 21 isoform X1

UniProtKB/Swiss-Prot

Q5R2W1, Q5R2W2, Q6P4R0, Q9ULJ3
XM_047440792.1 → XP_047296748.1 zinc finger and BTB domain-containing protein 21 isoform X2
XM_017028360.2 → XP_016883849.1 zinc finger and BTB domain-containing protein 21 isoform X1

UniProtKB/Swiss-Prot

Q5R2W1, Q5R2W2, Q6P4R0, Q9ULJ3

Conserved Domains (6) summary

sd00017
Location:548 → 569

ZF_C2H2; C2H2 Zn finger [structural motif]

sd00019
Location:911 → 931

ZF_C2H2; C2H2 Zn finger [structural motif]

cd18209
Location:12 → 123

BTB_POZ_ZBTB21_ZNF295; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in zinc finger and BTB domain-containing protein 21 (ZBTB21)

pfam00096
Location:670 → 692

zf-C2H2; Zinc finger, C2H2 type

pfam18450
Location:746 → 773

zf_C2H2_6; Zinc Finger domain

cd20908
Location:545 → 598

SUF4-like; N-terminal domain of Oryza sativa transcription factor SUPPRESSOR OF FRI 4 (OsSUF4), Arabidopsis thaliana SUF4 (AtSUF4), and similar proteins
XM_047440794.1 → XP_047296750.1 zinc finger and BTB domain-containing protein 21 isoform X2
XM_047440786.1 → XP_047296742.1 zinc finger and BTB domain-containing protein 21 isoform X1

UniProtKB/Swiss-Prot

Q5R2W1, Q5R2W2, Q6P4R0, Q9ULJ3
XM_047440795.1 → XP_047296751.1 zinc finger and BTB domain-containing protein 21 isoform X2
XM_047440790.1 → XP_047296746.1 zinc finger and BTB domain-containing protein 21 isoform X1

UniProtKB/Swiss-Prot

Q5R2W1, Q5R2W2, Q6P4R0, Q9ULJ3
XM_047440787.1 → XP_047296743.1 zinc finger and BTB domain-containing protein 21 isoform X1

UniProtKB/Swiss-Prot

Q5R2W1, Q5R2W2, Q6P4R0, Q9ULJ3
XM_047440796.1 → XP_047296752.1 zinc finger and BTB domain-containing protein 21 isoform X2
XM_047440791.1 → XP_047296747.1 zinc finger and BTB domain-containing protein 21 isoform X1

UniProtKB/Swiss-Prot

Q5R2W1, Q5R2W2, Q6P4R0, Q9ULJ3
XM_005261121.4 → XP_005261178.1 zinc finger and BTB domain-containing protein 21 isoform X1

See identical proteins and their annotated locations for XP_005261178.1

UniProtKB/Swiss-Prot

Q5R2W1, Q5R2W2, Q6P4R0, Q9ULJ3

Conserved Domains (6) summary

sd00017
Location:548 → 569

ZF_C2H2; C2H2 Zn finger [structural motif]

sd00019
Location:911 → 931

ZF_C2H2; C2H2 Zn finger [structural motif]

cd18209
Location:12 → 123

BTB_POZ_ZBTB21_ZNF295; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in zinc finger and BTB domain-containing protein 21 (ZBTB21)

pfam00096
Location:670 → 692

zf-C2H2; Zinc finger, C2H2 type

pfam18450
Location:746 → 773

zf_C2H2_6; Zinc Finger domain

cd20908
Location:545 → 598

SUF4-like; N-terminal domain of Oryza sativa transcription factor SUPPRESSOR OF FRI 4 (OsSUF4), Arabidopsis thaliana SUF4 (AtSUF4), and similar proteins
XM_047440797.1 → XP_047296753.1 zinc finger and BTB domain-containing protein 21 isoform X2
XM_047440789.1 → XP_047296745.1 zinc finger and BTB domain-containing protein 21 isoform X1

UniProtKB/Swiss-Prot

Q5R2W1, Q5R2W2, Q6P4R0, Q9ULJ3

Alternate T2T-CHM13v2.0

Genomic

NC_060945.1 Alternate T2T-CHM13v2.0

Range

40377057..40400598 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054324536.1 → XP_054180511.1 zinc finger and BTB domain-containing protein 21 isoform X2
XM_054324530.1 → XP_054180505.1 zinc finger and BTB domain-containing protein 21 isoform X1
XM_054324531.1 → XP_054180506.1 zinc finger and BTB domain-containing protein 21 isoform X1
XM_054324535.1 → XP_054180510.1 zinc finger and BTB domain-containing protein 21 isoform X2
XM_054324528.1 → XP_054180503.1 zinc finger and BTB domain-containing protein 21 isoform X1
XM_054324539.1 → XP_054180514.1 zinc finger and BTB domain-containing protein 21 isoform X2
XM_054324526.1 → XP_054180501.1 zinc finger and BTB domain-containing protein 21 isoform X1
XM_054324537.1 → XP_054180512.1 zinc finger and BTB domain-containing protein 21 isoform X2
XM_054324532.1 → XP_054180507.1 zinc finger and BTB domain-containing protein 21 isoform X1
XM_054324538.1 → XP_054180513.1 zinc finger and BTB domain-containing protein 21 isoform X2
XM_054324533.1 → XP_054180508.1 zinc finger and BTB domain-containing protein 21 isoform X1
XM_054324527.1 → XP_054180502.1 zinc finger and BTB domain-containing protein 21 isoform X1
XM_054324540.1 → XP_054180515.1 zinc finger and BTB domain-containing protein 21 isoform X2
XM_054324534.1 → XP_054180509.1 zinc finger and BTB domain-containing protein 21 isoform X1
XM_054324529.1 → XP_054180504.1 zinc finger and BTB domain-containing protein 21 isoform X1