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

ERCC6L2

protein_coding 9 95,871,264 - 96,121,154 PDO SQLite primary read-only query mode

Overview Summary GO UniProt Representative Transcripts FASTA ClinVar disease associations

Overview

Gene ID
ENSG00000182150

Gene type
protein_coding

Chromosome
9

Coordinates
95,871,264 - 96,121,154

Strand
+

Status
not available

NCBI summary UniProt GO Transcript FASTA Protein FASTA

Aliases

375748 C9orf102 CCDS35072 CCDS94442 CCDS94443 ENST00000653738.2 FLJ37706 HEBO NM_001010895 NM_020207.7 Q5T890 RAD26L chromosome 9 open reading frame 102 excision repair cross-complementation group 6 like 2 excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2

Summary

GENCODE gene_type=protein_coding; HGNC symbol=ERCC6L2; HGNC name=ERCC excision repair 6 like 2; alias_count=16; RefSeq=NM_001010895; UniProt=Q5T890; MANE Select=ENST00000653738.2,NM_020207.7

Source: GENCODE + HGNC complete set

375748 • protein-coding

This gene encodes a member of the Snf2 family of helicase-like proteins. The encoded protein may play a role in DNA repair and mitochondrial function. Mutations in this gene have been associated with bone marrow failure syndrome 2. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Apr 2014]

NCBI Gene

UniProt

Q5T890 • reviewed

Promotes double-strand break (DSB) end-joining and facilitates programmed recombination by controlling how DNA ends are joined in a spatially oriented manner during repair (By similarity). Also plays a role in DNA repair by restricting DNA end resection in double strand break (DSB) repair (PubMed:24507776, PubMed:37014751). Facilitates replication of complex DNA regions and regulates the maintenance of chromatin structure (PubMed:37014751)

DNA excision repair protein ERCC-6-like 2 · Nucleus; Cytoplasm, cytoskeleton, microtubule organizing center, centrosome; Mitochondrion; Chromosome, centromere

Q5T890 • reviewed

DNA excision repair protein ERCC-6-like 2 · Nucleus; Cytoplasm, cytoskeleton, microtubule organizing center, centrosome; Mitochondrion; Chromosome, centromere

Q5T890 • reviewed

DNA excision repair protein ERCC-6-like 2 · Nucleus; Cytoplasm, cytoskeleton, microtubule organizing center, centrosome; Mitochondrion; Chromosome, centromere

GO annotations

Biological process

GO:0006974 DNA damage response (IDA)
GO:0034614 cellular response to reactive oxygen species (IMP)
GO:0097680 double-strand break repair via classical nonhomologous end joining (IEA)
GO:0097680 double-strand break repair via classical nonhomologous end joining (IDA)
GO:0036297 interstrand cross-link repair (IMP)
GO:0036297 interstrand cross-link repair (IBA)

Cellular component

GO:0005813 centrosome (IDA)
GO:0005813 centrosome (IEA)
GO:0000775 chromosome, centromeric region (IEA)
GO:0000775 chromosome, centromeric region (IDA)
GO:0005737 cytoplasm (IMP)
GO:0005739 mitochondrion (IEA)
GO:0005739 mitochondrion (IMP)
GO:0005654 nucleoplasm (IDA)
GO:0005634 nucleus (IEA)
GO:0005634 nucleus (IMP)

+ 2 more

Molecular function

GO:0005524 ATP binding (IEA)
GO:0005515 protein binding (IPI)
GO:0005515 protein binding (IPI)
GO:0005515 protein binding (IPI)
GO:0005515 protein binding (IPI)
GO:0019901 protein kinase binding (IPI)

Representative

Representative transcript
ENST00000665077

Representative protein
ENSP00000499371.3

Representative type
GENCODE_Primary

Candidate count
8

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

Transcript FASTA Protein FASTA

Transcripts

Transcript ID	Name	Type	Status	Protein	Location
ENST00000402838	ERCC6L2-202	protein_coding	not available	ENSP00000384215.3	9:95,871,264 - 96,004,749 +
ENST00000683230	ERCC6L2-223	protein_coding_CDS_not_defined	not available	not available	9:95,875,059 - 95,882,677 +
ENST00000288985	ERCC6L2-201	protein_coding	not available	ENSP00000288985.8	9:95,875,249 - 95,968,840 +
ENST00000426805	ERCC6L2-203	protein_coding	not available	ENSP00000395345.3	9:95,875,249 - 95,929,117 +
ENST00000665077	ERCC6L2-211	protein_coding	not available	ENSP00000499371.3	9:95,875,249 - 95,883,331 +
ENST00000683350	ERCC6L2-224	protein_coding	not available	ENSP00000507810.1	9:95,875,249 - 95,980,693 +
ENST00000683937	ERCC6L2-225	protein_coding	not available	ENSP00000507442.1	9:95,875,249 - 96,014,557 +
ENST00000683991	ERCC6L2-226	protein_coding	not available	ENSP00000507383.1	9:95,875,249 - 95,984,665 +
ENST00000715566	ERCC6L2-227	protein_coding	not available	ENSP00000520479.1	9:95,875,249 - 96,018,447 +
ENST00000922956	ERCC6L2-228	protein_coding	not available	ENSP00000593015.1	9:95,875,249 - 96,013,930 +
ENST00000922957	ERCC6L2-229	protein_coding	not available	ENSP00000593016.1	9:95,875,249 - 96,013,329 +
ENST00000957783	ERCC6L2-230	protein_coding	not available	ENSP00000627842.1	9:95,875,249 - 96,013,931 +
ENST00001025522	ERCC6L2-233	protein_coding	not available	ENSP00000695339.1	9:95,875,249 - 96,004,922 +
ENST00001025523	ERCC6L2-234	protein_coding	not available	ENSP00000695340.1	9:95,875,249 - 96,004,859 +
ENST00001114490	ERCC6L2-239	protein_coding	not available	ENSP00000784295.1	9:95,875,249 - 96,041,514 +
ENST00001114492	ERCC6L2-241	protein_coding	not available	ENSP00000784297.1	9:95,875,249 - 95,972,389 +
ENST00001118082	ERCC6L2-243	protein_coding	not available	ENSP00000787887.1	9:95,875,249 - 95,883,329 +
ENST00001118083	ERCC6L2-244	protein_coding	not available	ENSP00000787888.1	9:95,875,249 - 95,882,656 +
ENST00001125416	ERCC6L2-245	protein_coding	not available	ENSP00000795221.1	9:95,875,249 - 96,018,440 +
ENST00001130819	ERCC6L2-246	protein_coding	not available	ENSP00000800624.1	9:95,875,249 - 95,892,126 +

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.