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Aliases for ELMOD3 Gene

Aliases for ELMOD3 Gene

  • ELMO/CED-12 Domain Containing 3 2 3
  • RBED1 3 4 6
  • 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
  • DFNB88 3 6
  • RBM29 3 4
  • Liver-Specific Organic Anion Transporter 3TM12 3
  • RNA Binding Motif And ELMO Domain 1 3
  • Organic Anion Transporter LST-3b 3
  • ELMO Domain-Containing Protein 3 3
  • C330008I15Rik 3
  • LST3 3

External Ids for ELMOD3 Gene

Previous Symbols for ELMOD3 Gene

  • RBM29
  • RBED1
  • DFNB88

Summaries for ELMOD3 Gene

GeneCards Summary for ELMOD3 Gene

ELMOD3 (ELMO/CED-12 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

Genomic Location for ELMOD3 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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 for ELMOD3 Gene

Gene Families for ELMOD3 Gene

HGNC:
  • RBM :RNA binding motif (RRM) containing

Protein Domains for ELMOD3 Gene

UniProtKB/Swiss-Prot:

ELMD3_HUMAN
Domain:
  • Contains 1 ELMO domain.:
    • Q96FG2
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
GO:0005515 protein binding IPI 25416956
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

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting 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
nucleus 3
cytoskeleton 2
cytosol 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for ELMOD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005929 cilium --
GO:0032420 stereocilium IEA --
GO:0060091 kinocilium IEA --
genes like me logo Genes that share ontologies with ELMOD3: view

Pathways 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.ENSP00000363970%0d%0a9606.ENSP00000268607%0d%0a
Selected Interacting proteins: ENSP00000318264 Q96FG2-ELMD3_HUMAN for ELMOD3 Gene via STRING UniProtKB

Gene Ontology (GO) - Biological Process for ELMOD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006909 phagocytosis IEA --
genes like me logo Genes that share ontologies with ELMOD3: view

No data available for Pathways by source for ELMOD3 Gene

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

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, 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 expressions with ELMOD3: view

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 36
  • 99.56 (n)
  • 99.48 (a)
ELMOD3 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ELMOD3 36
  • 87.46 (n)
  • 86.58 (a)
ELMOD3 37
  • 71 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ELMOD3 36
  • 89.33 (n)
  • 86.88 (a)
ELMOD3 37
  • 74 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Elmod3 36
  • 83.03 (n)
  • 79 (a)
Elmod3 16
Elmod3 37
  • 70 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ELMOD3 37
  • 41 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ELMOD3 37
  • 52 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Elmod3 36
  • 83.02 (n)
  • 80.5 (a)
chicken
(Gallus gallus)
Aves ELMOD3 37
  • 49 (a)
OneToOne
LOC426044 36
  • 66.11 (n)
  • 60.54 (a)
lizard
(Anolis carolinensis)
Reptilia ELMOD3 37
  • 45 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia elmod3 36
  • 61.63 (n)
  • 59.73 (a)
zebrafish
(Danio rerio)
Actinopterygii elmod3 37
  • 53 (a)
OneToOne
LOC100537442 36
  • 60.19 (n)
  • 57.05 (a)
worm
(Caenorhabditis elegans)
Secernentea C56G7.3 37
  • 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

Selected 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 MAF
rs955592 - 85,368,695(+) GAGTA(C/T)AGAGG reference, missense, nc-transcript-variant
rs1135604 -- 85,387,889(+) ttcca(C/T)aggaa intron-variant
rs3731830 -- 85,391,128(-) TGTCC(A/C)ATGCC utr-variant-3-prime, downstream-variant-500B, nc-transcript-variant
rs3821021 -- 85,369,616(-) GACAC(C/T)TACAG intron-variant
rs6707822 -- 85,388,164(+) AAAAA(A/T)ttttt 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

Relevant External Links for ELMOD3 Gene

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

Disorders for ELMOD3 Gene

(1) OMIM Diseases for ELMOD3 Gene (615427)

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.
genes like me logo Genes that share disorders with ELMOD3: view

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
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. Large-scale cDNA transfection screening for genes related to cancer development and progression. (PMID: 15498874) Wan D. … Gu J. (Proc. Natl. Acad. Sci. U.S.A. 2004) 3 4
  5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier L.W. … Wilson R.K. (Nature 2005) 3 4

Products for ELMOD3 Gene

Sources for ELMOD3 Gene

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