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Aliases for ELMOD3 Gene

Aliases for ELMOD3 Gene

  • ELMO Domain Containing 3 2 3
  • ELMO/CED-12 Domain Containing 3 2 3 5
  • RNA-Binding Motif And ELMO Domain-Containing Protein 1 3 4
  • RNA Binding Motif And ELMO/CED-12 Domain 1 2 3
  • Deafness, Autosomal Recessive 88 2 3
  • RNA Binding Motif Protein 29 2 3
  • RNA-Binding Motif Protein 29 3 4
  • RNA-Binding Protein 29 3 4
  • RBED1 3 4
  • RBM29 3 4
  • Liver-Specific Organic Anion Transporter 3TM12 3
  • RNA Binding Motif And ELMO Domain 1 3
  • Organic Anion Transporter LST-3b 3
  • C330008I15Rik 3
  • DFNB88 3
  • LST3 3

External Ids for ELMOD3 Gene

Previous HGNC Symbols for ELMOD3 Gene

  • RBM29
  • RBED1
  • DFNB88

Previous GeneCards Identifiers for ELMOD3 Gene

  • GC02P085437
  • GC02P085582
  • GC02P085583
  • GC02P085584
  • GC02P085585
  • GC02P085586
  • GC02P085587
  • GC02P085588

Summaries for ELMOD3 Gene

GeneCards Summary for ELMOD3 Gene

ELMOD3 (ELMO Domain Containing 3) is a Protein Coding gene. Diseases associated with ELMOD3 include deafness, autosomal recessive 88 and autosomal recessive non-syndromic sensorineural deafness type dfnb. GO annotations related to this gene include GTPase activator activity.

UniProtKB/Swiss-Prot for ELMOD3 Gene

  • Acts as a GTPase-activating protein (GAP) for ARL2 with low specific activity.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ELMOD3 Gene

Genomics for ELMOD3 Gene

Regulatory Elements for ELMOD3 Gene

Promoters for ELMOD3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ELMOD3 on UCSC Golden Path with GeneCards custom track

Genomic Location for ELMOD3 Gene

Chromosome:
2
Start:
85,354,394 bp from pter
End:
85,391,752 bp from pter
Size:
37,359 bases
Orientation:
Plus strand

Genomic View for ELMOD3 Gene

Genes around ELMOD3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ELMOD3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ELMOD3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ELMOD3 Gene

Proteins for ELMOD3 Gene

  • Protein details for ELMOD3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96FG2-ELMD3_HUMAN
    Recommended name:
    ELMO domain-containing protein 3
    Protein Accession:
    Q96FG2
    Secondary Accessions:
    • B8ZZD6
    • D6W5K4
    • Q2M1K3
    • Q2XSU3
    • Q2XSU4
    • Q8NAC1
    • Q8TCK4
    • Q8WV70
    • Q8WY75
    • Q9H6Q8

    Protein attributes for ELMOD3 Gene

    Size:
    381 amino acids
    Molecular mass:
    43046 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ELMOD3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ELMOD3 Gene

Proteomics data for ELMOD3 Gene at MOPED

Post-translational modifications for ELMOD3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ELMOD3 Gene

Domains & Families for ELMOD3 Gene

Gene Families for ELMOD3 Gene

Protein Domains for ELMOD3 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ELMOD3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96FG2

UniProtKB/Swiss-Prot:

ELMD3_HUMAN :
  • Contains 1 ELMO domain.
Domain:
  • Contains 1 ELMO domain.
genes like me logo Genes that share domains with ELMOD3: view

Function for ELMOD3 Gene

Molecular function for ELMOD3 Gene

UniProtKB/Swiss-Prot Function:
Acts as a GTPase-activating protein (GAP) for ARL2 with low specific activity.

Gene Ontology (GO) - Molecular Function for ELMOD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 NOT GTPase activator activity IDA 17452337
genes like me logo Genes that share ontologies with ELMOD3: view

Phenotypes for ELMOD3 Gene

GenomeRNAi human phenotypes for ELMOD3:
genes like me logo Genes that share phenotypes with ELMOD3: view

Human Phenotype Ontology for ELMOD3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for ELMOD3 Gene

miRTarBase miRNAs that target ELMOD3

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for ELMOD3 Gene

Localization for ELMOD3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ELMOD3 Gene

Cell projection, stereocilium. Cell projection, kinocilium. Cytoplasm, cytoskeleton. Note=Also present in the cuticular plate of auditory hair cells. Expressed along the length of the stereocilia, but excluded from the very tip (By similarity). Colocalizes with F-actin cytoskeleton. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ELMOD3 Gene COMPARTMENTS Subcellular localization image for ELMOD3 gene
Compartment Confidence
cytoskeleton 3
nucleus 3
cytosol 2
mitochondrion 2

Gene Ontology (GO) - Cellular Components for ELMOD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0060091 kinocilium IEA --
genes like me logo Genes that share ontologies with ELMOD3: view

Pathways & Interactions for ELMOD3 Gene

SuperPathways for ELMOD3 Gene

No Data Available

Interacting Proteins for ELMOD3 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000318264%0d%0a9606.ENSP00000268607%0d%0a9606.ENSP00000363970%0d%0a
Selected Interacting proteins: Q96FG2-ELMD3_HUMAN ENSP00000318264 for ELMOD3 Gene via UniProtKB STRING

Gene Ontology (GO) - Biological Process for ELMOD3 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for ELMOD3 Gene

Drugs & Compounds for ELMOD3 Gene

No Compound Related Data Available

Transcripts for ELMOD3 Gene

Unigene Clusters for ELMOD3 Gene

ELMO/CED-12 domain containing 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ELMOD3 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3a · 3b · 3c · 3d ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b · 11c ^
SP1: - - - - - - - -
SP2: - -
SP3: - -
SP4: - -
SP5: -
SP6: - - - - - - - - -
SP7: - - - - - - - -
SP8: - - - - - - - - -
SP9: - - - - - - - - -
SP10: -
SP11:
SP12: - - - - - - - - -
SP13: - - - - - - - - - -
SP14: - -
SP15: - - - - - - -
SP16: - - - - -
SP17: - - - - -
SP18: - -
SP19: - - - -
SP20: - -
SP21: - - - - -

ExUns: 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b · 18c
SP1: - -
SP2: -
SP3: - -
SP4: - - -
SP5: - -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11: -
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:

Relevant External Links for ELMOD3 Gene

GeneLoc Exon Structure for
ELMOD3
ECgene alternative splicing isoforms for
ELMOD3

Expression for ELMOD3 Gene

mRNA expression in normal human tissues for ELMOD3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ELMOD3 Gene

This gene is overexpressed in Urine (45.2) and Liver (22.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ELMOD3 Gene



SOURCE GeneReport for Unigene cluster for ELMOD3 Gene Hs.269990

mRNA Expression by UniProt/SwissProt for ELMOD3 Gene

Q96FG2-ELMD3_HUMAN
Tissue specificity: Both isoform 1 and isoform 6 are widely expressed.
genes like me logo Genes that share expression patterns with ELMOD3: view

Protein tissue co-expression partners for ELMOD3 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for ELMOD3 Gene

Orthologs for ELMOD3 Gene

This gene was present in the common ancestor of animals.

Orthologs for ELMOD3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ELMOD3 35
  • 99.56 (n)
  • 99.48 (a)
ELMOD3 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ELMOD3 36
  • 71 (a)
OneToOne
ELMOD3 35
  • 87.46 (n)
  • 86.58 (a)
dog
(Canis familiaris)
Mammalia ELMOD3 35
  • 89.33 (n)
  • 86.88 (a)
ELMOD3 36
  • 74 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Elmod3 16
Elmod3 35
  • 83.03 (n)
  • 79 (a)
Elmod3 36
  • 70 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ELMOD3 36
  • 41 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ELMOD3 36
  • 52 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Elmod3 35
  • 83.02 (n)
  • 80.5 (a)
chicken
(Gallus gallus)
Aves LOC426044 35
  • 66.11 (n)
  • 60.54 (a)
ELMOD3 36
  • 49 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ELMOD3 36
  • 45 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia elmod3 35
  • 61.63 (n)
  • 59.73 (a)
zebrafish
(Danio rerio)
Actinopterygii elmod3 36
  • 53 (a)
OneToOne
LOC100537442 35
  • 60.19 (n)
  • 57.05 (a)
worm
(Caenorhabditis elegans)
Secernentea C56G7.3 36
  • 18 (a)
OneToOne
Species with no ortholog for ELMOD3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ELMOD3 Gene

ENSEMBL:
Gene Tree for ELMOD3 (if available)
TreeFam:
Gene Tree for ELMOD3 (if available)

Paralogs for ELMOD3 Gene

(4) SIMAP similar genes for ELMOD3 Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with ELMOD3: view

No data available for Paralogs for ELMOD3 Gene

Variants for ELMOD3 Gene

Sequence variations from dbSNP and Humsavar for ELMOD3 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs7564372 - 85,363,163(+) AGCCA(C/T)GTGGT nc-transcript-variant, reference, missense
rs955592 - 85,368,695(+) GAGTA(C/G/T)AGAGG nc-transcript-variant, reference, missense
VAR_070125 Deafness, autosomal recessive, 88 (DFNB88)
rs1135604 -- 85,387,889(+) ttcca(C/T)aggaa intron-variant
rs6716601 -- 85,369,430(+) ATGTG(A/G)GTACC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ELMOD3 Gene

Variant ID Type Subtype PubMed ID
nsv834282 CNV Gain 17160897
nsv7314 OTHER Inversion 18451855
esv271832 CNV Insertion 20981092
nsv834283 CNV Loss 17160897

Variation tolerance for ELMOD3 Gene

Residual Variation Intolerance Score: 75.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.30; 70.50% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ELMOD3 Gene

HapMap Linkage Disequilibrium report
ELMOD3
Human Gene Mutation Database (HGMD)
ELMOD3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ELMOD3 Gene

Disorders for ELMOD3 Gene

MalaCards: The human disease database

(2) MalaCards diseases for ELMOD3 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
deafness, autosomal recessive 88
  • deafness, autosomal recessive, 88
autosomal recessive non-syndromic sensorineural deafness type dfnb
  • autosomal recessive isolated neurosensory deafness type dfnb
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ELMD3_HUMAN
  • Deafness, autosomal recessive, 88 (DFNB88) [MIM:615429]: A form of non-syndromic deafness characterized by prelingual onset of severe to profound mixed conductive and sensorineural hearing loss. {ECO:0000269 PubMed:24039609}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ELMOD3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ELMOD3
genes like me logo Genes that share disorders with ELMOD3: view

No data available for Genatlas for ELMOD3 Gene

Publications for ELMOD3 Gene

  1. An alteration in ELMOD3, an Arl2 GTPase-activating protein, is associated with hearing impairment in humans. (PMID: 24039609) Jaworek T.J. … Riazuddin S. (PLoS Genet. 2013) 2 3 4 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. Characterization of recombinant ELMOD (cell engulfment and motility domain) proteins as GTPase-activating proteins (GAPs) for ARF family GTPases. (PMID: 24616099) Ivanova A.A. … Kahn R.A. (J. Biol. Chem. 2014) 3
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  5. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PMID: 17207965) Lamesch P. … Vidal M. (Genomics 2007) 3

Products for ELMOD3 Gene

Sources for ELMOD3 Gene

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