ERFL

Summary

ERFL (ETS repressor factor like, HGNC:53894) is a protein-coding gene on chromosome 19q13.2, encoding ETS domain-containing transcription factor ERF-like (A0A1W2PQ73).

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific. Predicted to be involved in cell differentiation and regulation of transcription by RNA polymerase II. Predicted to be active in nucleus.

Source: NCBI Gene 390937 — RefSeq curated summary.

At a glance

• MANE Select transcript: NM_001365103

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:53894
Approved symbol	ERFL
Name	ETS repressor factor like
Location	19q13.2
Locus type	gene with protein product
Status	Approved
Aliases	erfl1
Ensembl gene	ENSG00000268041
Ensembl biotype	protein_coding
Entrez	390937

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000597630

RefSeq mRNA: 1 — MANE Select: NM_001365103 NM_001365103

CCDS: CCDS92627

Canonical transcript exons

ENST00000597630 — 6 exons

Exon	Start	End
ENSE00002981349	41909060	41909177
ENSE00003021310	41909276	41909471
ENSE00003037174	41909863	41910097
ENSE00003047080	41907704	41908676
ENSE00003803196	41928040	41928449
ENSE00003806480	41912853	41912932

Expression profiles

Bgee: expression breadth ubiquitous, 109 present calls, max score 72.21.

Top tissues by expression

120 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
granulocyte	CL:0000094	72.21	gold quality
sural nerve	UBERON:0015488	68.40	gold quality
lymph node	UBERON:0000029	68.17	gold quality
blood	UBERON:0000178	66.73	gold quality
spleen	UBERON:0002106	66.36	gold quality
bone marrow cell	CL:0002092	63.10	silver quality
vermiform appendix	UBERON:0001154	61.97	gold quality
right hemisphere of cerebellum	UBERON:0014890	61.58	gold quality
cerebellum	UBERON:0002037	61.43	gold quality
cerebellar hemisphere	UBERON:0002245	61.43	gold quality
cerebellar cortex	UBERON:0002129	61.42	gold quality
stromal cell of endometrium	CL:0002255	61.38	gold quality
mucosa of transverse colon	UBERON:0004991	61.35	gold quality
bone marrow	UBERON:0002371	61.22	gold quality
small intestine Peyer’s patch	UBERON:0003454	60.82	gold quality
colonic epithelium	UBERON:0000397	59.74	gold quality
small intestine	UBERON:0002108	59.39	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	57.95	gold quality
mucosa of stomach	UBERON:0001199	57.93	gold quality
tonsil	UBERON:0002372	57.27	gold quality
transverse colon	UBERON:0001157	56.80	gold quality
ascending aorta	UBERON:0001496	55.51	gold quality
gall bladder	UBERON:0002110	55.30	gold quality
thoracic aorta	UBERON:0001515	55.25	gold quality
right ovary	UBERON:0002118	54.68	gold quality
left ovary	UBERON:0002119	53.56	gold quality
intestine	UBERON:0000160	53.28	gold quality
tibial artery	UBERON:0007610	53.18	gold quality
popliteal artery	UBERON:0002250	53.14	gold quality
uterine cervix	UBERON:0000002	53.06	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.61

Regulation

Is transcription factor: no

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	si:ch211-265g22.4	ENSDARG00000076512
mus_musculus	Erfl	ENSMUSG00000108367
rattus_norvegicus	Erfl	ENSRNOG00000068986

Paralogs (28): ETV1 (ENSG00000006468), ETV7 (ENSG00000010030), SPI1 (ENSG00000066336), ELF4 (ENSG00000102034), ETV2 (ENSG00000105672), ERF (ENSG00000105722), ELF2 (ENSG00000109381), ELK3 (ENSG00000111145), ETV3 (ENSG00000117036), ELF1 (ENSG00000120690), SPDEF (ENSG00000124664), ELK1 (ENSG00000126767), ETS1 (ENSG00000134954), EHF (ENSG00000135373), ELF5 (ENSG00000135374), ETV6 (ENSG00000139083), FLI1 (ENSG00000151702), GABPA (ENSG00000154727), ERG (ENSG00000157554), ETS2 (ENSG00000157557), ELK4 (ENSG00000158711), ELF3 (ENSG00000163435), FEV (ENSG00000163497), SPIC (ENSG00000166211), ETV4 (ENSG00000175832), ETV5 (ENSG00000244405), ETV3L (ENSG00000253831), SPIB (ENSG00000269404)

Protein

Protein identifiers

ETS domain-containing transcription factor ERF-like — A0A1W2PQ73 (reviewed: A0A1W2PQ73)

Alternative names: ETS repressor factor-like

All UniProt accessions (1): A0A1W2PQ73

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Nucleus.

Similarity. Belongs to the ETS family.

RefSeq proteins (1): NP_001352032* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000418	Ets_dom	Domain
IPR036388	WH-like_DNA-bd_sf	Homologous_superfamily
IPR036390	WH_DNA-bd_sf	Homologous_superfamily
IPR046328	ETS_fam	Family

Pfam: PF00178

UniProt features (4 total): chain 1, DNA-binding region 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A0A1W2PQ73-F1	59.64	0.22

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 5 (showing top): GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, CBX5_TARGET_GENES, GOMF_DNA_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY, chr19q13

GO Biological Process (3): regulation of transcription by RNA polymerase II (GO:0006357), cell differentiation (GO:0030154), regulation of DNA-templated transcription (GO:0006355)

GO Molecular Function (4): DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), sequence-specific DNA binding (GO:0043565), DNA binding (GO:0003677), DNA-binding transcription factor activity (GO:0003700)

GO Cellular Component (1): nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of DNA-templated transcription	2
transcription by RNA polymerase II	1
cellular developmental process	1
DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
chromatin	1
RNA polymerase II transcription regulatory region sequence-specific DNA binding	1
DNA-binding transcription factor activity	1
regulation of transcription by RNA polymerase II	1
DNA binding	1
nucleic acid binding	1
transcription cis-regulatory region binding	1
transcription regulator activity	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

112 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ERFL	RBM42	Q9BTD8	447
ERFL	HBS1L	Q9Y450	447
ERFL	GSPT2	Q8IYD1	400
ERFL	RNF14	Q9UBS8	327
ERFL	GSPT1	P15170	305
ERFL	ERICH5	Q6P6B1	301
ERFL	SP5	Q6BEB4	276
ERFL	DNAJC12	Q9UKB3	251
ERFL	HSPB3	Q12988	251
ERFL	DOHH	Q9BU89	247
ERFL	PLIN5	Q00G26	228
ERFL	UPF1	Q92900	222
ERFL	CABP1	Q9NZU7	214
ERFL	KCNS2	Q9ULS6	212
ERFL	ING2	Q9H160	199

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A1W2PQ73, A1YF16, A1YG93, A2RU54, A5PKG8, O02786, O14813, O15353, O35602, O43638, O57601, P13297, P19419, P28360, P35548, P41969, P42580, P43687, P49640, P50223, P50548, P52946, P52950, P63156, P63157, P70459, P78413, Q03358, Q14549, Q2VL78, Q2VL79, Q2VL82, Q2VL83, Q2VL84, Q2VL85, Q2VL86, Q2VL87, Q2VL88, Q5NSW5, Q61575

Diamond homologs: A0A1W2PQ73, A0JN51, A1A4L6, A1YF15, A1YG61, A1YG91, A2D4Z7, A2T737, A2T762, A3FEM2, A4GTP4, A8WFJ9, O00321, O01519, O70132, O70273, O95238, P01105, P10157, P11308, P11536, P13474, P14921, P15036, P15037, P15062, P18755, P18756, P19102, P19419, P20105, P26323, P27577, P28322, P28324, P29773, P29774, P29775, P29776, P32519

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

0 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	0
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

2255 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:41909406:A:G	F123S	1.000
19:41909408:G:C	N122K	1.000
19:41909408:G:T	N122K	1.000
19:41909411:G:C	F121L	1.000
19:41909411:G:T	F121L	1.000
19:41909412:A:C	F121C	1.000
19:41909412:A:G	F121S	1.000
19:41909413:A:C	F121V	1.000
19:41909413:A:G	F121L	1.000
19:41909413:A:T	F121I	1.000
19:41909414:C:A	K120N	1.000
19:41909414:C:G	K120N	1.000
19:41909418:T:C	Y119C	1.000
19:41909418:T:G	Y119S	1.000
19:41909419:A:C	Y119D	1.000
19:41909419:A:G	Y119H	1.000
19:41909419:A:T	Y119N	1.000
19:41909423:G:C	F117L	1.000
19:41909423:G:T	F117L	1.000
19:41909424:A:C	F117C	1.000
19:41909424:A:G	F117S	1.000
19:41909425:A:C	F117V	1.000
19:41909425:A:G	F117L	1.000
19:41909425:A:T	F117I	1.000
19:41909426:C:A	R116S	1.000
19:41909426:C:G	R116S	1.000
19:41909427:C:A	R116M	1.000
19:41909427:C:G	R116T	1.000
19:41909428:T:A	R116W	1.000
19:41909428:T:C	R116G	1.000

dbSNP variants (sampled 300 via entrez): RS1000076635 (19:41917743 G>A), RS1000236192 (19:41926648 G>A,C), RS1000568600 (19:41925174 C>A,T), RS1001115757 (19:41919329 T>C), RS1001188354 (19:41927692 C>T), RS1001220874 (19:41927983 T>C,G), RS1002178666 (19:41916053 T>A,C), RS1002206079 (19:41916264 A>G), RS1002491757 (19:41907562 T>G), RS1002765191 (19:41910876 C>G,T), RS1002849705 (19:41918615 C>G,T), RS1002880753 (19:41918994 C>T), RS1002998952 (19:41912983 A>G), RS1003046556 (19:41907333 C>G,T), RS1003441960 (19:41913157 C>G,T)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

5 total (human), top 5 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sotorasib	affects cotreatment, decreases expression	1
sodium arsenite	increases expression	1
trametinib	affects cotreatment, decreases expression	1
NVP-BKM120	affects cotreatment, decreases expression	1
Thiram	increases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.