Seroatlas · Human Serome Atlas

ELMOD3

ELMO domain-containing protein 3

Also known as: DFNB88, ELMD3_HUMAN, FLJ21977, RBED1, RBM29

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

Protein identityUniProt · HPA

UniProt accession
Q96FG2
Gene
ELMOD3
Ensembl
ENSG00000115459
Chromosome
2
Canonical length
381 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins

OverviewNCBI Gene

This gene encodes a member of the engulfment and cell motility family of GTPase-activating proteins that regulate Arf GTPase proteins. Members of this family are defined by a conserved engulfment and cell motility domain. In rat cochlea, the encoded protein is found in stereocilia, kinocilia and cuticular plate of developing hair cells suggesting a function for this protein in cochlear sensory cells. An allelic variant of this family has been associated with autosomal recessive nonsyndromic deafness-88 in humans. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]

Canonical amino-acid sequenceUniProt

381 residues, UniProt reviewed canonical sequence.

>Q96FG2|ELMOD3
     1  MNEKSCSFHS KEELRDGQGE RLSAGYSPSY DKDKSVLAFR GIPISELKNH GILQALTTEA
    61  YEWEPRVVST EVVRAQEEWE AVDTIQPETG SQASSEQPGQ LISFSEALQH FQTVDLSPFK
   121  KRIQPTIRRT GLAALRHYLF GPPKLHQRLR EERDLVLTIA QCGLDSQDPV HGRVLQTIYK
   181  KLTGSKFDCA LHGNHWEDLG FQGANPATDL RGAGFLALLH LLYLVMDSKT LPMAQEIFRL
   241  SRHHIQQFPF CLMSVNITHI AIQALREECL SRECNRQQKV IPVVNSFYAA TFLHLAHVWR
   301  TQRKTISDSG FVLKELEVLA KKSPRRLLKT LELYLARVSK GQASLLGAQK CYGPEAPPFK
   361  DLTFTGESDL QSHSSEGVWL I

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ELMOD3 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)
0.37
Highest tissue expression
11 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 11 nTPM
  • adipose tissue: 11 nTPM
  • tongue: 9.5 nTPM
  • liver: 8.6 nTPM
  • breast: 8.5 nTPM
  • parathyroid gland: 8.4 nTPM

Single-cell type

  • adipocytes: 580 nCPM
  • myonuclei: 125 nCPM
  • adrenal cortex cells: 95 nCPM
  • oligodendrocytes: 72 nCPM
  • sertoli cells: 72 nCPM
  • leydig cells: 66 nCPM

Immune cell

  • eosinophil: 8 nTPM
  • basophil: 6.5 nTPM
  • T-reg: 5.6 nTPM
  • gdT-cell: 5.1 nTPM
  • NK-cell: 5 nTPM
  • naive CD8 T-cell: 4.8 nTPM

Brain region

  • basal ganglia: 8.8 nTPM
  • amygdala: 8.2 nTPM
  • white matter: 8.1 nTPM
  • cerebral cortex: 7.9 nTPM
  • medulla oblongata: 7.9 nTPM
  • midbrain: 7.6 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ELMOD3.

Disease | AllUniProt

Conditions ELMOD3 is implicated in, by any mechanism.

  • Deafness, autosomal recessive, 88 (DFNB88) MIM:615429
  • Deafness, autosomal dominant, 81 (DFNA81) MIM:619500

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 231 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Autosomal recessive nonsyndromic hearing loss 88

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)
1.61
gnomAD pLI
0
gnomAD missense Z
0.4
DepMap mean gene effect
-0.16
DepMap dependency class
selective

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

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads ELMOD3 as an antibody target. Whether an autoantibody or antibody against ELMOD3 could matter depends on whether native ELMOD3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ELMOD3 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 ELMOD3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/ELMOD3. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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