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AEBP2 AE binding protein 2 [ Homo sapiens (human) ]

Gene ID: 121536, updated on 1-Jun-2020

Summary

Official Symbol
AEBP2provided by HGNC
Official Full Name
AE binding protein 2provided by HGNC
Primary source
HGNC:HGNC:24051
See related
Ensembl:ENSG00000139154 MIM:617934
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
Expression
Ubiquitous expression in placenta (RPKM 7.9), thyroid (RPKM 7.0) and 25 other tissues See more
Orthologs

Genomic context

See AEBP2 in Genome Data Viewer
Location:
12p12.3
Exon count:
11
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (19404101..19522227)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (19592608..19675173)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene pleckstrin homology domain containing A5 Neighboring gene uncharacterized LOC112268092 Neighboring gene RNA, 7SL, cytoplasmic 67, pseudogene Neighboring gene serine and arginine rich splicing factor 11 pseudogene 1 Neighboring gene programmed cell death 5 pseudogene 1 Neighboring gene RNA, U6 small nuclear 254, pseudogene Neighboring gene eukaryotic translation elongation factor 1 alpha 1 pseudogene 4 Neighboring gene ribosomal protein L34 pseudogene 25 Neighboring gene uncharacterized LOC101928387 Neighboring gene RNA, U1 small nuclear 146, pseudogene

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

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of AE binding protein 2 (AEBP2) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC17922

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
DNA-binding transcription repressor activity, RNA polymerase II-specific IEA
Inferred from Electronic Annotation
more info
 
RNA polymerase II proximal promoter sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
transcription corepressor activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
chromatin organization IEA
Inferred from Electronic Annotation
more info
 
negative regulation of gene expression, epigenetic TAS
Traceable Author Statement
more info
 
negative regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
ESC/E(Z) complex IDA
Inferred from Direct Assay
more info
PubMed 
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
zinc finger protein AEBP2
Names
AE(adipocyte enhancer)-binding protein 2
adipocyte enhancer-binding protein 2

NCBI Reference Sequences (RefSeq)

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_001114176.2NP_001107648.1  zinc finger protein AEBP2 isoform b

    See identical proteins and their annotated locations for NP_001107648.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks a segment in the 3' coding region, compared to variant 1, which results in a protein (isoform B) with a longer and distinct C-terminus, compared to isoform A.
    Source sequence(s)
    AA195771, AC091805, BC015624, BC022220, DB244333
    Consensus CDS
    CCDS44841.1
    UniProtKB/Swiss-Prot
    Q6ZN18
    Related
    ENSP00000381840.3, ENST00000398864.7
    Conserved Domains (2) summary
    COG5048
    Location:215339
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:266286
    ZF_C2H2; C2H2 Zn finger [structural motif]
  2. NM_001267043.2NP_001253972.1  zinc finger protein AEBP2 isoform c

    See identical proteins and their annotated locations for NP_001253972.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and 5' coding region and represents the use of an alternate promotoer and also lacks a segment in the 3' coding region, compared to variant 1. These differences result in a protein (isoform C) with a shorter and distinct N-terminus and a longer and distinct C-terminus, compared to isoform A.
    Source sequence(s)
    AB209384, AK131410, BC015624, CX868393
    Consensus CDS
    CCDS58215.1
    UniProtKB/Swiss-Prot
    Q6ZN18
    Related
    ENSP00000354267.4, ENST00000360995.8
    Conserved Domains (2) summary
    COG5048
    Location:1123
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:5070
    ZF_C2H2; C2H2 Zn finger [structural motif]
  3. NM_001363736.2NP_001350665.1  zinc finger protein AEBP2 isoform d

    Status: VALIDATED

    Source sequence(s)
    AC091805
    Conserved Domains (2) summary
    COG5048
    Location:215339
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:266286
    ZF_C2H2; C2H2 Zn finger [structural motif]
  4. NM_153207.5NP_694939.2  zinc finger protein AEBP2 isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes isoform A.
    Source sequence(s)
    AA195771, AC091805, BC015624, BC022220, DB244333
    Consensus CDS
    CCDS44842.1
    UniProtKB/Swiss-Prot
    Q6ZN18
    Related
    ENSP00000266508.9, ENST00000266508.14
    Conserved Domains (2) summary
    COG5048
    Location:215339
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:266286
    ZF_C2H2; C2H2 Zn finger [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    19404101..19522227
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017018806.1XP_016874295.1  zinc finger protein AEBP2 isoform X3

    Related
    ENSP00000437983.1, ENST00000541908.5
    Conserved Domains (2) summary
    COG5048
    Location:18110
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:3757
    ZF_C2H2; C2H2 Zn finger [structural motif]
  2. XM_011520560.2XP_011518862.1  zinc finger protein AEBP2 isoform X2

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