ABTB2 ankyrin repeat and BTB domain containing 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ABTB2provided by HGNC
Official Full Name: ankyrin repeat and BTB domain containing 2provided by HGNC
Primary source: HGNC:HGNC:23842
See related: Ensembl:ENSG00000166016 MIM:621014; AllianceGenome:HGNC:23842
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: CCA3; ABTB2A; BTBD22
Summary: Predicted to enable protein heterodimerization activity. Predicted to act upstream of or within cellular response to toxic substance. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in kidney (RPKM 5.3), adrenal (RPKM 5.3) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11p13

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (34150987..34358010, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (34287990..34494746, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (34172534..34379557, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.

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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Vif	vif	HIV-1 Vif upregulates the expression of ankyrin repeat and BTB/POZ domain- containing protein 2 (ABTB2) in Vif-expression T cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH93895 (e-PCR)
- UniSTS:92702

RH92826 (e-PCR)
- UniSTS:88395

D11S4537 (e-PCR)
- UniSTS:40802

D11S4537 (e-PCR)
- UniSTS:28859

RH120755 (e-PCR)
- UniSTS:132835

D11S3333 (e-PCR)
- UniSTS:152575

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in cellular response to toxic substance	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: ankyrin repeat and BTB/POZ domain-containing protein 2

Names: ankyrin repeat and BTB (POZ) domain containing 2

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_145804.3 → NP_665803.2 ankyrin repeat and BTB/POZ domain-containing protein 2

See identical proteins and their annotated locations for NP_665803.2

Status: VALIDATED

Source sequence(s)

AC090469, AK291744, AL035079, AL050374

Consensus CDS

CCDS7890.2

UniProtKB/Swiss-Prot

A8K6S9, E9PRW7, Q52LD6, Q6MZW4, Q8N961, Q8NB44

Related

ENSP00000410157.2, ENST00000435224.3

Conserved Domains (8) summary

smart00225
Location:846 → 947

BTB; Broad-Complex, Tramtrack and Bric a brac

cd00204
Location:516 → 670

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 ...

cd14821
Location:947 → 991

SPOP_C_like; BACK-like Domain C-terminal to BTB in speckle-type POZ protein (SPOP) and similar proteins

pfam00651
Location:837 → 940

BTB; BTB/POZ domain

pfam12796
Location:526 → 633

Ank_2; Ankyrin repeats (3 copies)

pfam13637
Location:498 → 542

Ank_4; Ankyrin repeats (many copies)

sd00045
Location:524 → 565

ANK; ANK repeat [structural motif]

cl23907
Location:194 → 242

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 ...