ELF2 E74 like ETS transcription factor 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ELF2provided by HGNC
Official Full Name: E74 like ETS transcription factor 2provided by HGNC
Primary source: HGNC:HGNC:3317
See related: Ensembl:ENSG00000109381 MIM:619798; AllianceGenome:HGNC:3317
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: EU32; NERF; NERF-2; NERF-1A; NERF-1B; NERF-1a,b
Summary: Enables DNA-binding transcription factor activity, RNA polymerase II-specific and sequence-specific double-stranded DNA binding activity. Involved in negative regulation of DNA-templated transcription; positive regulation of DNA-templated transcription; and regulation of transcription by RNA polymerase II. Located in cytosol and nuclear body. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in testis (RPKM 17.8), bone marrow (RPKM 13.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 4q31.1

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (139057220..139177915, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (142376821..142498515, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (139978374..140098372, complement)

Chromosome 4 - NC_000004.12 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: 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?

c-Myc-induced long noncoding RNA MIRE cooperates with hnRNPK to stabilize ELF2 mRNA and promotes clear cell renal cell carcinogenesis.
Title: c-Myc-induced long noncoding RNA MIRE cooperates with hnRNPK to stabilize ELF2 mRNA and promotes clear cell renal cell carcinogenesis.
Circ_0028007 Aggravates the Malignancy of Nasopharyngeal Carcinoma by Regulating miR-656-3p/ELF2 Axis.
Title: Circ_0028007 Aggravates the Malignancy of Nasopharyngeal Carcinoma by Regulating miR-656-3p/ELF2 Axis.
Mutations in eIF2B genes cause vanishing white matter disease due to translation defects.
Title: EIF2B2 mutations in vanishing white matter disease hypersuppress translation and delay recovery during the integrated stress response.
Our findings collectively support a potential role of triiodothyronine and its receptor in tumor growth inhibition through regulation of ELF2
Title: ChIP-on-chip analysis of thyroid hormone-regulated genes and their physiological significance.
PCAT7 contributed to the progression of nasopharyngeal carcinoma through regulating miR-134-5p/ELF2 signaling pathway.
Title: Long non-coding RNA PCAT7 regulates ELF2 signaling through inhibition of miR-134-5p in nasopharyngeal carcinoma.
Affinity of the CAL PDZ domain for the cystic fibrosis transmembrane conductance regulator (CFTR) C-terminus is much weaker than that of the NHERF1/NHERF2 domains, enabling wild-type CFTR to avoid premature entrapment in the lysosomal pathway.
Title: The relative binding affinities of PDZ partners for CFTR: a biochemical basis for efficient endocytic recycling.
ELF2 transactivates VCP promoter through binding to two motifs, with a predominant contribution of the upstream one.
Title: E74-like factor 2 transactivates valosin-containing protein gene, a gene involved in cancer growth.
Observational study of gene-environment interaction. (HuGE Navigator)
Title: Genetic polymorphisms in interferon pathway and response to interferon treatment in hepatitis B patients: A pilot study.
angiopoietin-1 regulates expression of NERF2 and its own receptor in hypoxic cells.
Title: NERF2, a member of the Ets family of transcription factors, is increased in response to hypoxia and angiopoietin-1: a potential mechanism for Tie2 regulation during hypoxia.
NERF/ELF-2 physically interacts with AML1 and mediates opposing effects on AML1-mediated transcription of the B cell-specific blk gene
Title: Isoforms of the Ets transcription factor NERF/ELF-2 physically interact with AML1 and mediate opposing effects on AML1-mediated transcription of the B cell-specific blk gene.

Submit: New GeneRIF Correction See all GeneRIFs (11)

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

SHGC-67356 (e-PCR)
- UniSTS:84483

SHGC-67623 (e-PCR)
- UniSTS:18081

RH93045 (e-PCR)
- UniSTS:91299

SHGC-149560 (e-PCR)
- UniSTS:177081

RH91402 (e-PCR)
- UniSTS:83900

Elf2 (e-PCR), detects polymorphism
- UniSTS:536518

RH18408 (e-PCR)
- UniSTS:9423

ELF2__7580 (e-PCR)
- UniSTS:466147

D2S1238 (e-PCR)
- UniSTS:55269

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-templated transcription	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
involved_in regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in chromatin	ISA Inferred from Sequence Alignment more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in nuclear body	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IC Inferred by Curator more info	PubMed

General protein information

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Preferred Names: ETS-related transcription factor Elf-2

Names: E74-like factor 2 (ets domain transcription factor); ets family transcription factor ELF2C; new Ets-related factor

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_001276457.2 → NP_001263386.1 ETS-related transcription factor Elf-2 isoform 3

See identical proteins and their annotated locations for NP_001263386.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) has an alternate exon in place of the first three exons, uses an alternate in-frame splice junction at the 5' end of an internal exon, and lacks an alternate in-frame exon compared to variant 1. Translation starts in the alternate exon, so the resulting isoform (3) has a shorter and distinct N-terminus, contains an alternate internal segment, and lacks an alternate internal segment compared to isoform 1.

Source sequence(s)

AC093602, AF256222, BC065025, U43188

Consensus CDS

CCDS64063.1

UniProtKB/Swiss-Prot

Q15723

Related

ENSP00000368867.2, ENST00000379549.7

Conserved Domains (2) summary

smart00413
Location:118 → 200

ETS; erythroblast transformation specific domain

pfam12310
Location:20 → 48

Elf-1_N; Transcription factor protein N terminal
NM_001276458.3 → NP_001263387.1 ETS-related transcription factor Elf-2 isoform 4

See identical proteins and their annotated locations for NP_001263387.1

Status: VALIDATED

Description

Transcript Variant: This variant (4) has an alternate exon in place of the first three exons and compared to variant 1. Translation starts in the alternate exon, so the resulting isoform (4) has a shorter and distinct N-terminus compared to isoform 1.

Source sequence(s)

AC093602, AF256222, AK316455, U43188

Consensus CDS

CCDS64062.1

UniProtKB/TrEMBL

B7Z720

Related

ENSP00000426997.1, ENST00000510408.5

Conserved Domains (2) summary

smart00413
Location:135 → 217

ETS; erythroblast transformation specific domain

pfam12310
Location:20 → 48

Elf-1_N; Transcription factor protein N terminal
NM_001276459.3 → NP_001263388.1 ETS-related transcription factor Elf-2 isoform 5

See identical proteins and their annotated locations for NP_001263388.1

Status: VALIDATED

Description

Transcript Variant: This variant (5) has an alternate exon in place of the first three exons and lacks an alternate in-frame exon compared to variant 1. Translation starts in the alternate exon, so the resulting isoform (5) has a shorter and distinct N-terminus and lacks an alternate internal segment compared to isoform 1.

Source sequence(s)

AC093602, AF256222, BC034951, BI770157, U43188

UniProtKB/Swiss-Prot

Q15723

Conserved Domains (2) summary

pfam00178
Location:109 → 188

Ets; Ets-domain

pfam12310
Location:20 → 48

Elf-1_N; Transcription factor protein N terminal
NM_001331036.3 → NP_001317965.1 ETS-related transcription factor Elf-2 isoform 6

Status: VALIDATED

Source sequence(s)

AF256222, BC065025, BU621268, DA221737, U43188

Consensus CDS

CCDS82954.1

UniProtKB/Swiss-Prot

E9PCX3, Q15723, Q15724, Q15725, Q6P1K5

Related

ENSP00000510098.1, ENST00000686138.1

Conserved Domains (2) summary

smart00413
Location:207 → 289

ETS; erythroblast transformation specific domain

pfam12310
Location:3 → 108

Elf-1_N; Transcription factor protein N terminal
NM_001371324.1 → NP_001358253.1 ETS-related transcription factor Elf-2 isoform 1

Status: VALIDATED

Source sequence(s)

AC024032, AC093602

Consensus CDS

CCDS3744.1

Conserved Domains (2) summary

pfam00178
Location:198 → 277

Ets; Ets-domain

pfam12310
Location:3 → 108

Elf-1_N; Transcription factor protein N terminal
NM_001371336.1 → NP_001358265.1 ETS-related transcription factor Elf-2 isoform 7

Status: VALIDATED

Source sequence(s)

AC024032, AC093602

Conserved Domains (2) summary

pfam00178
Location:181 → 260

Ets; Ets-domain

pfam12310
Location:3 → 108

Elf-1_N; Transcription factor protein N terminal
NM_001371337.1 → NP_001358266.1 ETS-related transcription factor Elf-2 isoform 8

Status: VALIDATED

Source sequence(s)

AC024032, AC093602

UniProtKB/TrEMBL

B7Z8R4

Conserved Domains (1) summary

pfam00178
Location:94 → 173

Ets; Ets-domain
NM_001371338.1 → NP_001358267.1 ETS-related transcription factor Elf-2 isoform 9

Status: VALIDATED

Source sequence(s)

AC024032, AC093602

UniProtKB/TrEMBL

B7Z8R4

Conserved Domains (1) summary

pfam00178
Location:77 → 156

Ets; Ets-domain
NM_001371339.1 → NP_001358268.1 ETS-related transcription factor Elf-2 isoform 10

Status: VALIDATED

Source sequence(s)

AC024032, AC093602

UniProtKB/TrEMBL

B7Z8R4

Conserved Domains (1) summary

pfam00178
Location:65 → 144

Ets; Ets-domain
NM_006874.5 → NP_006865.1 ETS-related transcription factor Elf-2 isoform 2

See identical proteins and their annotated locations for NP_006865.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) has an alternate exon in place of the first three exons and uses an alternate in-frame splice junction at the 5' end of an internal exon compared to variant 1. Translation starts in the alternate exon, so the resulting isoform (2) has a shorter and distinct N-terminus and contains an alternate internal segment compared to isoform 1.

Source sequence(s)

AC093602, BC034951, U43188

Consensus CDS

CCDS3745.1

UniProtKB/Swiss-Prot

Q15723

Related

ENSP00000351458.2, ENST00000358635.7

Conserved Domains (2) summary

smart00413
Location:147 → 229

ETS; erythroblast transformation specific domain

pfam12310
Location:20 → 48

Elf-1_N; Transcription factor protein N terminal
NM_201999.3 → NP_973728.1 ETS-related transcription factor Elf-2 isoform 1

See identical proteins and their annotated locations for NP_973728.1

Status: VALIDATED

Description

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

Source sequence(s)

AC024032, AC093602

Consensus CDS

CCDS3744.1

UniProtKB/Swiss-Prot

Q15723

Related

ENSP00000377782.1, ENST00000394235.6

Conserved Domains (2) summary

pfam00178
Location:198 → 277

Ets; Ets-domain

pfam12310
Location:3 → 108

Elf-1_N; Transcription factor protein N terminal

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_000004.12 Reference GRCh38.p14 Primary Assembly

Range

139057220..139177915 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047449740.1 → XP_047305696.1 ETS-related transcription factor Elf-2 isoform X2
XM_047449741.1 → XP_047305697.1 ETS-related transcription factor Elf-2 isoform X3
XM_047449737.1 → XP_047305693.1 ETS-related transcription factor Elf-2 isoform X1

UniProtKB/Swiss-Prot

E9PCX3, Q15723, Q15724, Q15725, Q6P1K5
XM_005262805.3 → XP_005262862.1 ETS-related transcription factor Elf-2 isoform X4

Conserved Domains (2) summary

pfam00178
Location:169 → 248

Ets; Ets-domain

pfam12310
Location:3 → 108

Elf-1_N; Transcription factor protein N terminal
XM_047449733.1 → XP_047305689.1 ETS-related transcription factor Elf-2 isoform X1

UniProtKB/Swiss-Prot

E9PCX3, Q15723, Q15724, Q15725, Q6P1K5
XM_047449736.1 → XP_047305692.1 ETS-related transcription factor Elf-2 isoform X1

UniProtKB/Swiss-Prot

E9PCX3, Q15723, Q15724, Q15725, Q6P1K5

Related

ENSP00000368868.1, ENST00000379550.5
XM_047449738.1 → XP_047305694.1 ETS-related transcription factor Elf-2 isoform X2
XM_047449734.1 → XP_047305690.1 ETS-related transcription factor Elf-2 isoform X1

UniProtKB/Swiss-Prot

E9PCX3, Q15723, Q15724, Q15725, Q6P1K5
XM_047449739.1 → XP_047305695.1 ETS-related transcription factor Elf-2 isoform X2
XM_047449732.1 → XP_047305688.1 ETS-related transcription factor Elf-2 isoform X1

UniProtKB/Swiss-Prot

E9PCX3, Q15723, Q15724, Q15725, Q6P1K5
XM_011531711.3 → XP_011530013.1 ETS-related transcription factor Elf-2 isoform X5

See identical proteins and their annotated locations for XP_011530013.1

Conserved Domains (1) summary

smart00413
Location:103 → 185

ETS; erythroblast transformation specific domain
XM_047449742.1 → XP_047305698.1 ETS-related transcription factor Elf-2 isoform X5
XM_011531714.3 → XP_011530016.1 ETS-related transcription factor Elf-2 isoform X6

UniProtKB/TrEMBL

B7Z8R4

Conserved Domains (1) summary

pfam00178
Location:1 → 31

Ets; Ets-domain

Alternate T2T-CHM13v2.0

Genomic

NC_060928.1 Alternate T2T-CHM13v2.0

Range

142376821..142498515 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054349156.1 → XP_054205131.1 ETS-related transcription factor Elf-2 isoform X2
XM_054349157.1 → XP_054205132.1 ETS-related transcription factor Elf-2 isoform X3
XM_054349158.1 → XP_054205133.1 ETS-related transcription factor Elf-2 isoform X4
XM_054349151.1 → XP_054205126.1 ETS-related transcription factor Elf-2 isoform X1

UniProtKB/Swiss-Prot

E9PCX3, Q15723, Q15724, Q15725, Q6P1K5
XM_054349153.1 → XP_054205128.1 ETS-related transcription factor Elf-2 isoform X1

UniProtKB/Swiss-Prot

E9PCX3, Q15723, Q15724, Q15725, Q6P1K5
XM_054349154.1 → XP_054205129.1 ETS-related transcription factor Elf-2 isoform X2
XM_054349152.1 → XP_054205127.1 ETS-related transcription factor Elf-2 isoform X1

UniProtKB/Swiss-Prot

E9PCX3, Q15723, Q15724, Q15725, Q6P1K5
XM_054349155.1 → XP_054205130.1 ETS-related transcription factor Elf-2 isoform X2
XM_054349150.1 → XP_054205125.1 ETS-related transcription factor Elf-2 isoform X1

UniProtKB/Swiss-Prot

E9PCX3, Q15723, Q15724, Q15725, Q6P1K5
XM_054349159.1 → XP_054205134.1 ETS-related transcription factor Elf-2 isoform X5
XM_054349160.1 → XP_054205135.1 ETS-related transcription factor Elf-2 isoform X6

UniProtKB/TrEMBL

B7Z8R4