ERCC6L2

Protein identityUniProt · HPA

UniProt accession

Q5T890

Gene

ERCC6L2

Ensembl

ENSG00000182150

Chromosome

9

Canonical length

1550 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins

Subcellular location

Nucleoplasm,Cytosol

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

1550 residues, UniProt reviewed canonical sequence.

>Q5T890|ERCC6L2
     1  MDPSAPQPRA ETSGKDIWHP GERCLAPSPD NGKLCEASIK SITVDENGKS FAVVLYADFQ
    61  ERKIPLKQLQ EVKFVKDCPR NLIFDDEDLE KPYFPNRKFP SSSVAFKLSD NGDSIPYTIN
   121  RYLRDYQREG TRFLYGHYIH GGGCILGDDM GLGKTVQVIS FLAAVLHKKG TREDIENNMP
   181  EFLLRSMKKE PLSSTAKKMF LIVAPLSVLY NWKDELDTWG YFRVTVLHGN RKDNELIRVK
   241  QRKCEIALTT YETLRLCLDE LNSLEWSAVI VDEAHRIKNP KARVTEVMKA LKCNVRIGLT
   301  GTILQNNMKE LWCVMDWAVP GLLGSGTYFK KQFSDPVEHG QRHTATKREL ATGRKAMQRL
   361  AKKMSGWFLR RTKTLIKDQL PKKEDRMVYC SLTDFQKAVY QTVLETEDVT LILQSSEPCT
   421  CRSGQKRRNC CYKTNSHGET VKTLYLSYLT VLQKVANHVA LLQAASTSKQ QETLIKRICD
   481  QVFSRFPDFV QKSKDAAFET LSDPKYSGKM KVLQQLLNHC RKNRDKVLLF SFSTKLLDVL
   541  QQYCMASGLD YRRLDGSTKS EERLKIVKEF NSTQDVNICL VSTMAGGLGL NFVGANVVVL
   601  FDPTWNPAND LQAIDRAYRI GQCRDVKVLR LISLGTVEEI MYLRQIYKQQ LHCVVVGSEN
   661  AKRYFEAVQG SKEHQGELFG IHNLFKFRSQ GSCLTKDILE REGQVEAGIM TATTWLKEGP
   721  PAHKLEMPRQ PDCQECRGTE QAAEPLAKEA CDLCSDFSDE EPVGATGIKT AKNKAPDSSK
   781  ASSSPGQLTL LQCGFSKLLE TKCKAVEDSD GNTASDDESS DEQPTCLSTE AKDAGCEKNQ
   841  DSLGTSKHQK LDNILNPKEK HIFYKSEKIL EQNISSKSDE KKIKNTDKHC ILQNVTESED
   901  SDVICPTQYT TERFPDNSIR FKPPLEGSED SETEHTVKTR NNDNSRNTDD KRNGIISKKL
   961  SPENTTLKSI LKRKGTSDIS DESDDIEISS KSRVRKRASS LRFKRIKETK KELHNSPKTM
  1021  NKTNQVYAAN EDHNSQFIDD YSSSDESLSV SHFSFSKQSH RPRTIRDRTS FSSKLPSHNK
  1081  KNSTFIPRKP MKCSNEKVVN QEQSYESMDK FLDGVQEVAY IHSNQNVIGS SKAENHMSRW
  1141  AAHDVFELKQ FSQLPANIAV CSSKTYKEKV DADTLPHTKK GQQPSEGSIS LPLYISNPVN
  1201  QKKKKVYHTN QTTFIIGETP KGIRRKQFEE MASYFNSSSV NEFAKHITNA TSEERQKMLR
  1261  DFYASQYPEV KEFFVDSVSQ FNNSSFEKGE QRTRKKSDKR ESLIKPRLSD SETLSFKDST
  1321  NKISQVCSLK TYKRKSVKFQ NHISYREEVF FNDAETKKSP VSSTQEIDSG KNSQASEDTV
  1381  TSRSLNSESE TRERRLENTM KDQQDLTRTG ISRKEPLLKL ENKKIENPVL ENTSVISLLG
  1441  DTSILDDLFK SHGNSPTQLP KKVLSGPMEK AKQRPKDFWD ILNEQNDESL SKLTDLAVIE
  1501  TLCEKAPLAA PFKRREEPAT SLWKSNEKFL WKKFSPSDTD ENATNTQSTT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ERCC6L2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.46

Highest tissue expression

6.4 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ERCC6L2.

Disease | AllUniProt

Conditions ERCC6L2 is implicated in, by any mechanism.

• Bone marrow failure syndrome 2 (BMFS2) MIM:615715

Disease | GeneticClinVar

60 pathogenic / likely-pathogenic of 1,678 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Pancytopenia-developmental delay syndrome
• ERCC6L2-related disorder
• Bone marrow hypocellularity
• Hereditary cancer-predisposing syndrome
• Premature ovarian insufficiency

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.68

gnomAD pLI

0

gnomAD missense Z

0.64

DepMap mean gene effect

-0.23

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cellular response to reactive oxygen species
• DNA damage response
• double-strand break repair via classical nonhomologous end joining
• interstrand cross-link repair

Molecular functions

• ATP binding
• DNA binding
• helicase activity
• hydrolase activity
• protein kinase binding

Cellular components

• centrosome
• chromosome, centromeric region
• cytoplasm
• mitochondrion
• nucleus
• protein-containing complex

Protein domainsUniProt · Pfam · InterPro

• SNF2, N-terminal domain
• Helicase, C-terminal domain-like
• DNA/RNA helicase, ATP-dependent, DEAH-box type, conserved site
• Helicase superfamily 1/2, ATP-binding domain
• P-loop containing nucleoside triphosphate hydrolase
• SNF2-like, N-terminal domain superfamily
• SNF2/RAD5-like, C-terminal helicase domain
• SNF2/RAD54 Helicase and DNA Repair
• SNF2-related domain
• Helicase conserved C-terminal domain
• Helicase-associated putative binding domain
• ERCC6L2-like, ribbon-helix-helix domain
• ERCC6L2-like, DEXH-box helicase domain
• Helicase-associated putative binding domain, C-terminal
• ERCC6L2-like, ribbon-helix-helix domain

KeywordsUniProt

• Alternative initiation
• ATP-binding
• Centromere
• Chromosome
• Cytoplasm
• Cytoskeleton
• DNA damage
• DNA repair
• DNA-binding
• Helicase
• Hydrolase
• Mitochondrion
• Nucleotide-binding
• Nucleus
• Phosphoprotein

InteractionsUniProt · HPA

Protein binding partners of ERCC6L2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• CYREN
• NEK6
• XRCC5
• XRCC6
• PCNA