ERF ETS2 repressor factor [Homo sapiens (human)] - Gene

Summary

Official Symbol: ERFprovided by HGNC
Official Full Name: ETS2 repressor factorprovided by HGNC
Primary source: HGNC:HGNC:3444
See related: Ensembl:ENSG00000105722 MIM:611888; AllianceGenome:HGNC:3444
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PE2; CRS4; PE-2; CHYTS
Summary: ETS2 is a transcription factor and protooncogene involved in development, apoptosis, and the regulation of telomerase. The protein encoded by this gene binds to the ETS2 promoter and is a strong repressor of ETS2 transcription. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]
Expression: Ubiquitous expression in kidney (RPKM 13.9), fat (RPKM 12.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.2

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (42247569..42255128, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (45066943..45074502, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (42751721..42759280, complement)

Chromosome 19 - NC_000019.10 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 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?

Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis.
Title: Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis.
Activation of gamma-globin expression by LncRNA-mediated ERF promoter hypermethylation in beta-thalassemia.
Title: Activation of γ-globin expression by LncRNA-mediated ERF promoter hypermethylation in β-thalassemia.
The CIC-ERF co-deletion underlies fusion-independent activation of ETS family member, ETV1, to drive prostate cancer progression.
Title: The CIC-ERF co-deletion underlies fusion-independent activation of ETS family member, ETV1, to drive prostate cancer progression.
Cognitive, Behavioural, Speech, Language and Developmental Outcomes Associated with Pathogenic Variants in the ERF Gene.
Title: Cognitive, Behavioural, Speech, Language and Developmental Outcomes Associated with Pathogenic Variants in the ERF Gene.
Dissection of contiguous gene effects for deletions around ERF on chromosome 19.
Title: Dissection of contiguous gene effects for deletions around ERF on chromosome 19.
Deletion of ERF and CIC causes abnormal skull morphology and global developmental delay.
Title: Deletion of ERF and CIC causes abnormal skull morphology and global developmental delay.
Identification and analysis of micro-exons in AP2/ERF and MADS gene families.
Title: Identification and analysis of micro-exons in AP2/ERF and MADS gene families.
Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals.
Title: Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals.
Here we describe a boy and his mother with different craniosynostosis patterns, but both with verified intracranial hypertension and heterozygosity for a truncating variant of ERF c.1201_1202delAA (p.Lys401Glufs*10).
Title: A progressive and complex clinical course in two family members with ERF-related craniosynostosis: a case report.
Mutation in the ERF gene is associated with craniosynostosis syndrome.
Title: ERF-related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome.

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

Associated conditions

Description	Tests
Chitayat syndrome MedGen: C4310679 OMIM: 617180 GeneReviews: Not available	Compare labs
Craniosynostosis 4 MedGen: C1833340 OMIM: 600775 GeneReviews: Not available	Compare labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2021-06-08) ClinGen Genome Curation Page Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2021-06-08) ClinGen Genome Curation PagePubMed

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

RH79119 (e-PCR)
- UniSTS:2854

RH11603 (e-PCR)
- UniSTS:34740

RH80814 (e-PCR)
- UniSTS:84978

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 factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific 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 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 chromatin	ISA Inferred from Sequence Alignment more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement 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

General protein information

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Preferred Names: ETS domain-containing transcription factor ERF

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.

Genomic

NG_042802.1 RefSeqGene

Range

5037..12596

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001301035.2 → NP_001287964.1 ETS domain-containing transcription factor ERF isoform 2

See identical proteins and their annotated locations for NP_001287964.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon, compared to variant 1. It encodes isoform 2, which has a shorter N-terminus, compared to isoform 1. Variants 2, 3, and 4 all encode isoform 2.

Source sequence(s)

AK297666, AW005463, BC022231

Consensus CDS

CCDS77308.1

UniProtKB/TrEMBL

B7Z6N1

Related

ENSP00000388173.2, ENST00000440177.6

Conserved Domains (1) summary

cl02599
Location:1 → 36

Ets; Ets-domain
NM_001308402.2 → NP_001295331.1 ETS domain-containing transcription factor ERF isoform 2

See identical proteins and their annotated locations for NP_001295331.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon compared to variant 1. It encodes isoform 2, which has a shorter N-terminus compared to isoform 1. Variants 2, 3, and 4 all encode isoform 2.

Source sequence(s)

AA961500, BC022231, DC407368

Consensus CDS

CCDS77308.1

UniProtKB/TrEMBL

B7Z6N1

Conserved Domains (1) summary

cl02599
Location:1 → 36

Ets; Ets-domain
NM_001312656.2 → NP_001299585.1 ETS domain-containing transcription factor ERF isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon compared to variant 1. It encodes isoform 2, which has a shorter N-terminus compared to isoform 1. Variants 2, 3, and 4 all encode isoform 2.

Source sequence(s)

AW005463, BC022231, DB246848

Consensus CDS

CCDS77308.1

UniProtKB/TrEMBL

B7Z6N1

Conserved Domains (1) summary

cl02599
Location:1 → 36

Ets; Ets-domain
NM_006494.4 → NP_006485.2 ETS domain-containing transcription factor ERF isoform 1

See identical proteins and their annotated locations for NP_006485.2

Status: REVIEWED

Description

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

Source sequence(s)

AW005463, BC022231, DC371332, U15655

Consensus CDS

CCDS12600.1

UniProtKB/Swiss-Prot

B2RAP1, B7Z4R0, P50548, Q59G38, Q9UPI7

UniProtKB/TrEMBL

B7Z6N1

Related

ENSP00000222329.3, ENST00000222329.9

Conserved Domains (2) summary

smart00413
Location:26 → 111

ETS; erythroblast transformation specific domain

cl26464
Location:126 → 383

Atrophin-1; Atrophin-1 family

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_000019.10 Reference GRCh38.p14 Primary Assembly

Range

42247569..42255128 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047438396.1 → XP_047294352.1 ETS domain-containing transcription factor ERF isoform X2
XM_047438395.1 → XP_047294351.1 ETS domain-containing transcription factor ERF isoform X1
XM_047438394.1 → XP_047294350.1 ETS domain-containing transcription factor ERF isoform X1

Alternate T2T-CHM13v2.0

Genomic

NC_060943.1 Alternate T2T-CHM13v2.0

Range

45066943..45074502 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054320186.1 → XP_054176161.1 ETS domain-containing transcription factor ERF isoform X2
XM_054320184.1 → XP_054176159.1 ETS domain-containing transcription factor ERF isoform X1
XM_054320183.1 → XP_054176158.1 ETS domain-containing transcription factor ERF isoform X1
XM_054320185.1 → XP_054176160.1 ETS domain-containing transcription factor ERF isoform X1