EAF2 ELL associated factor 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: EAF2provided by HGNC
Official Full Name: ELL associated factor 2provided by HGNC
Primary source: HGNC:HGNC:23115
See related: Ensembl:ENSG00000145088 MIM:607659; AllianceGenome:HGNC:23115
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: U19; BM040; TRAITS
Summary: Enables transcription elongation factor activity. Involved in positive regulation of transcription by RNA polymerase II and regulation of transcription elongation by RNA polymerase II. Part of transcription elongation factor complex. Biomarker of prostate cancer. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in bone marrow (RPKM 6.9), lymph node (RPKM 6.3) and 18 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3q13.33

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (121835209..121886526)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (124555203..124606495)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (121554056..121605373)

Chromosome 3 - NC_000003.12 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: 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?

Mechanism of ELL-associated factor 2 and vasohibin 1 regulating invasion, migration, and angiogenesis in colorectal cancer.
Title: Mechanism of ELL-associated factor 2 and vasohibin 1 regulating invasion, migration, and angiogenesis in colorectal cancer.
CircEAF2 counteracts Epstein-Barr virus-positive diffuse large B-cell lymphoma progression via miR-BART19-3p/APC/beta-catenin axis.
Title: CircEAF2 counteracts Epstein-Barr virus-positive diffuse large B-cell lymphoma progression via miR-BART19-3p/APC/β-catenin axis.
Systematic expression analysis of EAF family reveals the importance of EAF2 in melanoma.
Title: Systematic expression analysis of EAF family reveals the importance of EAF2 in melanoma.
EAF2 frameshift mutation is associated with Colorectal Cancer.
Title: Candidate Tumor Suppressor Gene EAF2 is Mutated in Colorectal and Gastric Cancers.
Findings provide further evidence that ELL2 is a potential tumor suppressor frequently down-regulated in clinical prostate cancer specimens and provides new insights into regulation of ELL2 protein level by polyubiquitination and EAF2 binding.
Title: Regulation of ELL2 stability and polyubiquitination by EAF2 in prostate cancer cells.
Simultaneous inactivation of EAF2 and p53 can act to activate STAT3 and drive prostate tumorigenesis.
Title: EAF2 and p53 Co-Regulate STAT3 Activation in Prostate Cancer.
The results indicated that Eaf2 was able to effectively suppress H2O2induced apoptosis of HLE cells via inhibition of caspase 3 production and activation of Wnt3a signaling.
Title: Eaf2 protects human lens epithelial cells against oxidative stress‑induced apoptosis by Wnt signaling.
EZH2 promotes tumorigenesis and malignant progression in part by activating glycolysis through an EAF2-HIF1alpha signaling axis.
Title: EZH2 promotes metabolic reprogramming in glioblastomas through epigenetic repression of EAF2-HIF1α signaling.
Concurrent p53 nuclear staining and EAF2 downregulation was associated with high Gleason score In human prostate cancer specimens.
Title: Combined Loss of EAF2 and p53 Induces Prostate Carcinogenesis in Male Mice.
analysis showed that EAF2 and EAF1 are required for the recruitment and retention of Ku70/Ku80 to DNA damage sites and play a functional role in nonhomologous end-joining DNA repair. Findings provide evidence for EAF2 as a key factor mediating androgen protection of DNA damage via Ku70/Ku80 in prostate cancer cells.
Title: EAF2 regulates DNA repair through Ku70/Ku80 in the prostate.

Submit: New GeneRIF Correction See all GeneRIFs (22)

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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription elongation factor activity	IBA Inferred from Biological aspect of Ancestor more info
enables transcription elongation factor activity	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in epithelial cell proliferation involved in prostate gland development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cell growth	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of epithelial cell proliferation involved in prostate gland development	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of transcription elongation by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in transcription elongation by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in nuclear speck	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	TAS Traceable Author Statement more info
part_of super elongation complex	IEA Inferred from Electronic Annotation more info
part_of transcription elongation factor complex	IBA Inferred from Biological aspect of Ancestor more info
part_of transcription elongation factor complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: ELL-associated factor 2

Names: testosterone-regulated apoptosis inducer and tumor suppressor protein

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_001320041.2 → NP_001306970.1 ELL-associated factor 2 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate exon in the 5' region, resulting in a distinct 5' UTR and the use of a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1.

Source sequence(s)

AC119736, AF217516, AY049020, HY005912

UniProtKB/Swiss-Prot

Q96CJ1
NM_018456.6 → NP_060926.2 ELL-associated factor 2 isoform 1

See identical proteins and their annotated locations for NP_060926.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AY049020, HY005912

Consensus CDS

CCDS3006.1

UniProtKB/Swiss-Prot

Q96CJ1, Q9NZ82

Related

ENSP00000273668.2, ENST00000273668.7

Conserved Domains (1) summary

pfam09816
Location:17 → 115

EAF; RNA polymerase II transcription elongation factor

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

121835209..121886526

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047448576.1 → XP_047304532.1 ELL-associated factor 2 isoform X1
XM_017006861.2 → XP_016862350.1 ELL-associated factor 2 isoform X2

UniProtKB/Swiss-Prot

Q96CJ1
XM_047448577.1 → XP_047304533.1 ELL-associated factor 2 isoform X2
XM_005247618.4 → XP_005247675.1 ELL-associated factor 2 isoform X1

See identical proteins and their annotated locations for XP_005247675.1

Conserved Domains (1) summary

pfam09816
Location:48 → 124

EAF; RNA polymerase II transcription elongation factor
XM_017006863.2 → XP_016862352.1 ELL-associated factor 2 isoform X3

UniProtKB/TrEMBL

B4DWJ3

Related

ENSP00000410708.2, ENST00000451944.2

Conserved Domains (1) summary

pfam09816
Location:17 → 113

EAF; RNA polymerase II transcription elongation factor

Alternate T2T-CHM13v2.0

Genomic

NC_060927.1 Alternate T2T-CHM13v2.0

Range

124555203..124606495

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054347255.1 → XP_054203230.1 ELL-associated factor 2 isoform X1
XM_054347257.1 → XP_054203232.1 ELL-associated factor 2 isoform X2
XM_054347258.1 → XP_054203233.1 ELL-associated factor 2 isoform X2
XM_054347256.1 → XP_054203231.1 ELL-associated factor 2 isoform X1
XM_054347259.1 → XP_054203234.1 ELL-associated factor 2 isoform X3

UniProtKB/TrEMBL

B4DWJ3