Seroatlas · Human Serome Atlas

CECR2

Chromatin remodeling regulator CECR2

Also known as: CECR2_HUMAN, KIAA1740

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9BXF3
Gene: CECR2
Ensembl: ENSG00000099954
Chromosome: 22
Canonical length: 1484 aa
Protein class: Predicted intracellular proteins
Subcellular location: Nucleoplasm,Vesicles

OverviewNCBI Gene

This gene encodes a bromodomain-containing protein that is involved in chromatin remodeling, and may additionally play a role in DNA damage response. The encoded protein functions as part of an ATP-dependent complex that is involved in neurulation. This gene is a candidate gene for Cat Eye Syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]

Canonical amino-acid sequenceUniProt

1484 residues, UniProt reviewed canonical sequence.

>Q9BXF3|CECR2
     1  MCPEEGGAAG LGELRSWWEV PAIAHFCSLF RTAFRLPDFE IEELEAALHR DDVEFISDLI
    61  ACLLQGCYQR RDITPQTFHS YLEDIINYRW ELEEGKPNPL REASFQDLPL RTRVEILHRL
   121  CDYRLDADDV FDLLKGLDAD SLRVEPLGED NSGALYWYFY GTRMYKEDPV QGKSNGELSL
   181  SRESEGQKNV SSIPGKTGKR RGRPPKRKKL QEEILLSEKQ EENSLASEPQ TRHGSQGPGQ
   241  GTWWLLCQTE EEWRQVTESF RERTSLRERQ LYKLLSEDFL PEICNMIAQK GKRPQRTKAE
   301  LHPRWMSDHL SIKPVKQEET PVLTRIEKQK RKEEEEERQI LLAVQKKEQE QMLKEERKRE
   361  LEEKVKAVEG MCSVRVVWRG ACLSTSRPVD RAKRRKLREE RAWLLAQGKE LPPELSHLDP
   421  NSPMREEKKT KDLFELDDDF TAMYKVLDVV KAHKDSWPFL EPVDESYAPN YYQIIKAPMD
   481  ISSMEKKLNG GLYCTKEEFV NDMKTMFRNC RKYNGESSEY TKMSDNLERC FHRAMMKHFP
   541  GEDGDTDEEF WIREDEKREK RRSRAGRSGG SHVWTRSRDP EGSSRKQQPM ENGGKSLPPT
   601  RRAPSSGDDQ SSSSTQPPRE VGTSNGRGFS HPLHCGGTPS QAPFLNQMRP AVPGTFGPLR
   661  GSDPATLYGS SGVPEPHPGE PVQQRQPFTM QPPVGINSLR GPRLGTPEEK QMCGGLTHLS
   721  NMGPHPGSLQ LGQISGPSQD GSMYAPAQFQ PGFIPPRHGG APARPPDFPE SSEIPPSHMY
   781  RSYKYLNRVH SAVWNGNHGA TNQGPLGPDE KPHLGPGPSH QPRTLGHVMD SRVMRPPVPP
   841  NQWTEQSGFL PHGVPSSGYM RPPCKSAGHR LQPPPVPAPS SLFGAPAQAL RGVQGGDSMM
   901  DSPEMIAMQQ LSSRVCPPGV PYHPHQPAHP RLPGPFPQVA HPMSVTVSAP KPALGNPGRA
   961  PENSEAQEPE NDQAEPLPGL EEKPPGVGTS EGVYLTQLPH PTPPLQTDCT RQSSPQERET
  1021  VGPELKSSSS ESADNCKAMK GKNPWPSDSS YPGPAAQGCV RDLSTVADRG ALSENGVIGE
  1081  ASPCGSEGKG LGSSGSEKLL CPRGRTLQET MPCTGQNAAT PPSTDPGLTG GTVSQFPPLY
  1141  MPGLEYPNSA AHYHISPGLQ GVGPVMGGKS PASHPQHFPP RGFQSNHPHS GGFPRYRPPQ
  1201  GMRYSYHPPP QPSYHHYQRT PYYACPQSFS DWQRPLHPQG SPSGPPASQP PPPRSLFSDK
  1261  NAMASLQGCE TLNAALTSPT RMDAVAAKVP NDGQNPGPEE EKLDESMERP ESPKEFLDLD
  1321  NHNAATKRQS SLSASEYLYG TPPPLSSGMG FGSSAFPPHS VMLQTGPPYT PQRPASHFQP
  1381  RAYSSPVAAL PPHHPGATQP NGLSQEGPIY RCQEEGLGHF QAVMMEQIGT RSGIRGPFQE
  1441  MYRPSGMQMH PVQSQASFPK TPTAATSQEE VPPHKPPTLP LDQS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CECR2 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): 0.59
Highest tissue expression: 18 nTPM

Expression across tissuesHPA

Tissue

skeletal muscle: 18 nTPM
retina: 12 nTPM
cerebellum: 11 nTPM
tongue: 8.3 nTPM
cerebral cortex: 3.7 nTPM
liver: 3.6 nTPM

Single-cell type

myonuclei: 800 nCPM
cone photoreceptor cells: 706 nCPM
pituitary stem cells: 509 nCPM
rod photoreceptor cells: 366 nCPM
thymic myoid cells: 299 nCPM
syncytiotrophoblasts: 288 nCPM

Immune cell

basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM
intermediate monocyte: 0 nTPM
MAIT T-cell: 0 nTPM

Brain region

cerebellum: 38 nTPM
basal ganglia: 24 nTPM
white matter: 24 nTPM
medulla oblongata: 21 nTPM
cerebral cortex: 19 nTPM
thalamus: 19 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CECR2.

Disease | GeneticClinVar

3 pathogenic / likely-pathogenic of 43 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

CECR2-related neurodevelopmental disorder

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): 0.17
gnomAD pLI: 1
gnomAD missense Z: 0.57

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

ATP-dependent chromatin remodeler activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of CECR2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads CECR2 as an antibody target. Whether an autoantibody or antibody against CECR2 could matter depends on whether native CECR2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CECR2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label CECR2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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