Seroatlas · Human Serome Atlas

ELP2

Elongator complex protein 2

Also known as: ELP2_HUMAN, FLJ10879, STATIP1, StIP

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

Protein identityUniProt · HPA

UniProt accession: Q6IA86
Gene: ELP2
Ensembl: ENSG00000134759
Chromosome: 18
Canonical length: 826 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Cytosol

OverviewNCBI Gene

The protein encoded by this gene is a core subunit of the elongator complex, a histone acetyltransferase complex that associates with RNA polymerase II. In addition to histone acetylation, the encoded protein effects transcriptional elongation and may help remodel chromatin. [provided by RefSeq, May 2016]

Canonical amino-acid sequenceUniProt

826 residues, UniProt reviewed canonical sequence.

>Q6IA86|ELP2
     1  MVAPVLETSH VFCCPNRVRG VLNWSSGPRG LLAFGTSCSV VLYDPLKRVV VTNLNGHTAR
    61  VNCIQWICKQ DGSPSTELVS GGSDNQVIHW EIEDNQLLKA VHLQGHEGPV YAVHAVYQRR
   121  TSDPALCTLI VSAAADSAVR LWSKKGPEVM CLQTLNFGNG FALALCLSFL PNTDVPILAC
   181  GNDDCRIHIF AQQNDQFQKV LSLCGHEDWI RGVEWAAFGR DLFLASCSQD CLIRIWKLYI
   241  KSTSLETQDD DNIRLKENTF TIENESVKIA FAVTLETVLA GHENWVNAVH WQPVFYKDGV
   301  LQQPVRLLSA SMDKTMILWA PDEESGVWLE QVRVGEVGGN TLGFYDCQFN EDGSMIIAHA
   361  FHGALHLWKQ NTVNPREWTP EIVISGHFDG VQDLVWDPEG EFIITVGTDQ TTRLFAPWKR
   421  KDQSQVTWHE IARPQIHGYD LKCLAMINRF QFVSGADEKV LRVFSAPRNF VENFCAITGQ
   481  SLNHVLCNQD SDLPEGATVP ALGLSNKAVF QGDIASQPSD EEELLTSTGF EYQQVAFQPS
   541  ILTEPPTEDH LLQNTLWPEV QKLYGHGYEI FCVTCNSSKT LLASACKAAK KEHAAIILWN
   601  TTSWKQVQNL VFHSLTVTQM AFSPNEKFLL AVSRDRTWSL WKKQDTISPE FEPVFSLFAF
   661  TNKITSVHSR IIWSCDWSPD SKYFFTGSRD KKVVVWGECD STDDCIEHNI GPCSSVLDVG
   721  GAVTAVSVCP VLHPSQRYVV AVGLECGKIC LYTWKKTDQV PEINDWTHCV ETSQSQSHTL
   781  AIRKLCWKNC SGKTEQKEAE GAEWLHFASC GEDHTVKIHR VNKCAL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ELP2 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): 0.23
Highest tissue expression: 43 nTPM

Expression across tissuesHPA

Tissue

liver: 43 nTPM
ovary: 43 nTPM
breast: 33 nTPM
tongue: 30 nTPM
skeletal muscle: 30 nTPM
epididymis: 29 nTPM

Single-cell type

lactotrophs: 142 nCPM
prostatic glandular cells: 140 nCPM
somatotrophs: 137 nCPM
myonuclei: 130 nCPM
hepatocytes: 126 nCPM
late spermatids: 124 nCPM

Immune cell

non-classical monocyte: 25 nTPM
NK-cell: 22 nTPM
basophil: 22 nTPM
naive CD4 T-cell: 22 nTPM
memory B-cell: 20 nTPM
naive CD8 T-cell: 19 nTPM

Brain region

white matter: 31 nTPM
hypothalamus: 28 nTPM
thalamus: 27 nTPM
basal ganglia: 26 nTPM
pons: 25 nTPM
choroid plexus: 24 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ELP2.

Disease | AllUniProt

Conditions ELP2 is implicated in, by any mechanism.

Intellectual developmental disorder, autosomal recessive 58 (MRT58) MIM:617270

Disease | GeneticClinVar

18 pathogenic / likely-pathogenic of 254 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Intellectual disability, autosomal recessive 58
Profound intellectual disability
ELP2-related disorder
Inborn genetic diseases

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): 0.88
gnomAD pLI: 0
gnomAD missense Z: 0.58
DepMap mean gene effect: -0.63
DepMap dependency class: common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

protein kinase binding

Cellular components

Protein domainsUniProt · Pfam · InterPro

WD40 repeat
WD40/YVTN repeat-like-containing domain superfamily
WD40-repeat-containing domain superfamily
WD domain, G-beta repeat
Elongator complex protein 2

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of ELP2 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 ELP2 as an antibody target. Whether an autoantibody or antibody against ELP2 could matter depends on whether native ELP2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ELP2 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 ELP2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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