Prototype stage

Gene detail

Read-only gene view with summary, GO, UniProt, NCBI, and representative sequence links.

GRCh38.p14 + GENCODE Release 50local-onlyPDO SQLite primaryread-only query modesqlite3 fallback available

Gene detail

ERCC4

protein_coding 16 13,920,138 - 13,952,348 PDO SQLite primary read-only query mode

Overview Summary GO UniProt Representative Transcripts FASTA ClinVar disease associations

Overview

Gene ID
ENSG00000175595

Gene type
protein_coding

Chromosome
16

Coordinates
13,920,138 - 13,952,348

Strand
+

Status
not available

NCBI summary UniProt GO Transcript FASTA Protein FASTA

Aliases

2072 CCDS32390 ENST00000311895.8 FANCQ NM_005236 NM_005236.3 Q92889 RAD1 XPF excision repair cross-complementation group 4 excision repair cross-complementing rodent repair deficiency, complementation group 4 xeroderma pigmentosum, complementation group F

Summary

GENCODE gene_type=protein_coding; HGNC symbol=ERCC4; HGNC name=ERCC excision repair 4; alias_count=14; RefSeq=NM_005236; UniProt=Q92889; MANE Select=ENST00000311895.8,NM_005236.3

Source: GENCODE + HGNC complete set

2072 • protein-coding

The protein encoded by this gene forms a complex with ERCC1 and is involved in the 5' incision made during nucleotide excision repair. This complex is a structure specific DNA repair endonuclease that interacts with EME1. Defects in this gene are a cause of xeroderma pigmentosum complementation group F (XP-F), or xeroderma pigmentosum VI (XP6).[provided by RefSeq, Mar 2009]

NCBI Gene

UniProt

Q92889 • reviewed

Catalytic component of a structure-specific DNA repair endonuclease responsible for the 5-prime incision during DNA repair, and which is essential for nucleotide excision repair (NER) and interstrand cross-link (ICL) repair

DNA repair endonuclease XPF · Nucleus; Chromosome

Q92889 • reviewed

DNA repair endonuclease XPF · Nucleus; Chromosome

GO annotations

Biological process

GO:0006281 DNA repair (IEA)
GO:0006281 DNA repair (IEA)
GO:0006281 DNA repair (IGI)
GO:0006281 DNA repair (IMP)
GO:0034644 cellular response to UV (IGI)
GO:0034644 cellular response to UV (IDA)
GO:0000724 double-strand break repair via homologous recombination (IMP)
GO:0000724 double-strand break repair via homologous recombination (IBA)
GO:0006303 double-strand break repair via nonhomologous end joining (IMP)
GO:0006312 mitotic recombination (IBA)

+ 19 more

Cellular component

GO:0070522 ERCC4-ERCC1 complex (IDA)
GO:0070522 ERCC4-ERCC1 complex (IPI)
GO:0070522 ERCC4-ERCC1 complex (IDA)
GO:0070522 ERCC4-ERCC1 complex (IDA)
GO:0070522 ERCC4-ERCC1 complex (IDA)
GO:0005694 chromosome (IEA)
GO:0005694 chromosome (EXP)
GO:0000781 chromosome, telomeric region (IDA)
GO:0000781 chromosome, telomeric region (IDA)
GO:0016604 nuclear body (IDA)

+ 19 more

Molecular function

GO:1990599 3' overhang single-stranded DNA endonuclease activity (IMP)
GO:1990599 3' overhang single-stranded DNA endonuclease activity (IBA)
GO:0003677 DNA binding (IDA)
GO:0003677 DNA binding (IEA)
GO:0004520 DNA endonuclease activity (IDA)
GO:0004520 DNA endonuclease activity (IEA)
GO:0004520 DNA endonuclease activity (IDA)
GO:0004520 DNA endonuclease activity (IDA)
GO:0004520 DNA endonuclease activity (IMP)
GO:0001094 TFIID-class transcription factor complex binding (IEA)

+ 34 more

Representative

Representative transcript
ENST00000575156

Representative protein
ENSP00000459933.1

Representative type
GENCODE_Primary

Candidate count
4

GENCODE Release 50 annotation GTF · transcript.tag=GENCODE_Primary; transcript_support_level=1

Transcript FASTA Protein FASTA

Transcripts

Transcript ID	Name	Type	Status	Protein	Location
ENST00000575156	ERCC4-207	protein_coding	not available	ENSP00000459933.1	16:13,920,138 - 13,933,247 +
ENST00000682617	ERCC4-211	protein_coding	not available	ENSP00000507912.1	16:13,920,138 - 13,952,348 +
ENST00001136533	ERCC4-219	protein_coding	not available	ENSP00000806133.1	16:13,920,138 - 13,952,348 +
ENST00000311895	ERCC4-201	protein_coding	not available	ENSP00000310520.7	16:13,920,154 - 13,952,348 +
ENST00000683962	ERCC4-216	nonsense_mediated_decay	not available	ENSP00000506854.1	16:13,920,154 - 13,949,401 +
ENST00000974013	ERCC4-218	nonsense_mediated_decay	not available	ENSP00000643830.1	16:13,920,154 - 13,932,239 +
ENST00000682826	ERCC4-212	nonsense_mediated_decay	not available	ENSP00000507274.1	16:13,920,157 - 13,940,148 +
ENST00000682909	ERCC4-213	retained_intron	not available	not available	16:13,920,157 - 13,940,361 +
ENST00000974012	ERCC4-217	nonsense_mediated_decay	not available	ENSP00000643829.1	16:13,920,157 - 13,932,252 +
ENST00000683407	ERCC4-215	retained_intron	not available	not available	16:13,920,158 - 13,936,727 +
ENST00000682552	ERCC4-209	retained_intron	not available	not available	16:13,920,178 - 13,934,355 +
ENST00000683277	ERCC4-214	retained_intron	not available	not available	16:13,920,179 - 13,940,239 +
ENST00000576348	ERCC4-208	retained_intron	not available	not available	16:13,920,191 - 13,926,801 +
ENST00000682568	ERCC4-210	protein_coding_CDS_not_defined	not available	not available	16:13,920,428 - 13,936,015 +
ENST00000574194	ERCC4-205	nonsense_mediated_decay	not available	ENSP00000461883.1	16:13,926,552 - 13,932,239 +
ENST00000574781	ERCC4-206	protein_coding_CDS_not_defined	not available	not available	16:13,927,450 - 13,930,878 +
ENST00000389138	ERCC4-202	retained_intron	not available	not available	16:13,932,026 - 13,948,425 +
ENST00000573018	ERCC4-204	retained_intron	not available	not available	16:13,934,022 - 13,935,387 +
ENST00000462862	ERCC4-203	nonsense_mediated_decay	not available	ENSP00000461322.1	16:13,937,764 - 13,948,004 +

FASTA

FASTA output is generated by backend query; the raw FASTA path is not exposed.

Open transcript export Open protein export

ClinVar disease associations

ClinVar disease associations: 0

ClinVar gene-disease tables are missing. Build the candidate database first.