Seroatlas · Human Serome Atlas

ERMARD

Endoplasmic reticulum membrane-associated RNA degradation protein

Also known as: C6orf70, dJ266L20.3, EMARD_HUMAN, FLJ11152

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

Protein identityUniProt · HPA

UniProt accession: Q5T6L9
Gene: ERMARD
Ensembl: ENSG00000130023
Chromosome: 6
Canonical length: 678 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location: Cytosol

OverviewNCBI Gene

The protein encoded by this gene contains 2 transmembrane domains near the C-terminus and is localized in the endoplasmic reticulum. Knockout of this gene in developing rat brain showed that it may be involved in neuronal migration. Mutations in this gene are associated with periventricular nodular heterotopia-6 (PVNH6). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013]

Canonical amino-acid sequenceUniProt

678 residues, UniProt reviewed canonical sequence.

>Q5T6L9|ERMARD
     1  MEVLIGDPIT TCLSPSVYDI ICNLGFQLRE NCDINSIVTQ NGEVCWKTIT DCVSYTESEQ
    61  GLDYWGSVRL LGPVCEAVHS HFLSLTKGQF EIRYAPWFQW TSFPELFPEI FDALESLQSP
   121  AISLSLMKLT SCLERALGDV FLLIGKECPF LLRDLLSSEE LAQVFSQSVM NVLKVFVGSP
   181  CGLNLRNVLW HGFASPEEIP PKYCSMMILL TAGLGQLLKS YLQNTKLTLA HRSFISLTNL
   241  EDLIVFPDVT YEVLSVLEEV MMKSAFILKI MLPYWEVALV KFKSHRFADC AILLLTQLET
   301  GLRNVFATLN RCPKRLLTAE STALYTTFDQ ILAKHLNDGK INQLPLFLGE PAMEFLWDFL
   361  NHQEGPRIRD HLSHGEINLH EFSKETTNQL LAFSLVLLLR FVDDCLLSVF KEKSAVELLI
   421  SLAEGYSSRC HPVFQLKKQV LSCEESIRVW ALLPFPEELT RQAVRLEDNS ETNACHSLIT
   481  KMTDELYHHM PENRCVLKDL DRLPTETWPQ LLRELCSTPV PTLFCPRIVL EVLVVLRSIS
   541  EQCRRVSSQV TVASELRHRQ WVERTLRSRQ RQNYLRMWSS IRLLSPVLSL ILLLIALELV
   601  NIHAVCGKNA HEYQQYLKFV KSILQYTENL VAYTSYEKNK WNETINLTHT ALLKMWTFSE
   661  KKQMLIHLAK KSTSKVLL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ERMARD 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: Other membrane
Secreted: No
Transmembrane segments: 2
Mean surface accessibility (rSASA): 0.23
Highest tissue expression: 21 nTPM

Expression across tissuesHPA

Tissue

testis: 21 nTPM
epididymis: 19 nTPM
liver: 18 nTPM
skin: 18 nTPM
ovary: 17 nTPM
spleen: 17 nTPM

Single-cell type

oocytes: 170 nCPM
late spermatids: 65 nCPM
late primary spermatocytes: 52 nCPM
podocytes: 46 nCPM
early spermatids: 41 nCPM
ependymal cells: 40 nCPM

Immune cell

non-classical monocyte: 9.8 nTPM
intermediate monocyte: 7.9 nTPM
T-reg: 7.7 nTPM
memory CD4 T-cell: 6 nTPM
naive B-cell: 6 nTPM
memory CD8 T-cell: 5.9 nTPM

Brain region

white matter: 19 nTPM
medulla oblongata: 16 nTPM
basal ganglia: 15 nTPM
spinal cord: 14 nTPM
pons: 14 nTPM
thalamus: 13 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ERMARD.

Disease | AllUniProt

Conditions ERMARD is implicated in, by any mechanism.

Periventricular nodular heterotopia 6 (PVNH6) MIM:615544

Disease | GeneticClinVar

3 pathogenic / likely-pathogenic of 376 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Periventricular nodular heterotopia 6

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): 1.02
gnomAD pLI: 0
gnomAD missense Z: -0.32
DepMap mean gene effect: 0.09
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Cellular components

endoplasmic reticulum membrane

Protein domainsUniProt · Pfam · InterPro

Endoplasmic reticulum membrane-associated RNA degradation protein, N-terminal
Endoplasmic reticulum membrane-associated RNA degradation protein
Domain of unknown function (DUF4209)

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

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

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

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