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Aliases for ELMOD3 Gene

Aliases for ELMOD3 Gene

  • ELMO 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
  • ELMO/CED-12 Domain Containing 3 2 3
  • RNA-Binding Motif Protein 29 3 4
  • RBED1 3 4
  • RBM29 3 4
  • Liver-Specific Organic Anion Transporter 3TM12 3
  • ELMO Domain-Containing Protein 3 3
  • Organic Anion Transporter LST-3b 3
  • RNA Binding Motif Protein 29 2
  • RNA-Binding Protein 29 4
  • 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

Entrez Gene Summary for ELMOD3 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]

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 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

Enhancers for ELMOD3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02F085323 0.2 ENCODE 11.7 -28.1 -28085 5.6 HDGF PKNOX1 ARNT CREB3L1 MLX WRNIP1 ARID4B SIN3A DMAP1 ZNF2 RETSAT TGOLN2 CAPG ELMOD3 SH2D6 SNORD94 LOC100996506 TCF7L1 PIR54061
GH02F085318 0.2 ENCODE 11.3 -35.5 -35541 1.2 CTCF HDAC1 CHD7 THRB IRF9 FOXK2 POLR2A NCOR1 TRIM24 CREM RETSAT TGOLN2 LOC100996506 ELMOD3 CAPG PIR54061
GH02F085311 0.5 ENCODE 11.1 -41.0 -41021 3.3 HDGF MLX ARNT CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 TGOLN2 ELMOD3 RETSAT LOC100996506 GC02M085296
GH02F085306 1.3 Ensembl ENCODE 10.8 -45.6 -45615 4.8 HDGF PKNOX1 MLX ZFP64 SIN3A ARID4B DMAP1 YY1 FOS PAF1 TGOLN2 RETSAT ELMOD3 CAPG TCF7L1 LOC100996506 GC02M085296
GH02F085455 0.9 Ensembl ENCODE 10.8 +103.2 103179 4.7 HDGF ARID4B SIN3A YBX1 BRCA1 ZNF207 FOS MCM3 NFYC MIER2 CAPG SH2D6 MAT2A ELMOD3 RETSAT USP39 TGOLN2 VAMP5 GC02M085461 ENSG00000199936
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around ELMOD3 on UCSC Golden Path with GeneCards custom track

Promoters for ELMOD3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000121043 6 2401 HDGF PKNOX1 CREB3L1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9

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

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

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
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

Human Phenotype Ontology for ELMOD3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for ELMOD3 Gene

miRTarBase miRNAs that target ELMOD3

Inhibitory RNA Products

Flow Cytometry Products

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:0005856 cytoskeleton IEA --
GO:0005929 cilium IEA --
GO:0032420 stereocilium IEA --
GO:0042995 cell projection 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

Gene Ontology (GO) - Biological Process for ELMOD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043547 positive regulation of GTPase activity IEA --
genes like me logo Genes that share ontologies with ELMOD3: view

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

Transcripts for ELMOD3 Gene

Unigene Clusters for ELMOD3 Gene

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

Inhibitory RNA Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE 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



Protein tissue co-expression partners for ELMOD3 Gene

NURSA nuclear receptor signaling pathways regulating expression of ELMOD3 Gene:

ELMOD3

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

Primer 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 34
  • 99.56 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ELMOD3 35 34
  • 89.33 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ELMOD3 35 34
  • 87.46 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Elmod3 34 16 35
  • 83.03 (n)
rat
(Rattus norvegicus)
Mammalia Elmod3 34
  • 83.02 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ELMOD3 35
  • 52 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ELMOD3 35
  • 41 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC426044 34
  • 66.11 (n)
ELMOD3 35
  • 49 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ELMOD3 35
  • 45 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia elmod3 34
  • 61.63 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100537442 34
  • 60.19 (n)
elmod3 35
  • 53 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea C56G7.3 35
  • 18 (a)
OneToOne
Species where no ortholog for ELMOD3 was found in the sources mined by GeneCards:
  • 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
rs587777040 Deafness, autosomal recessive, 88 (DFNB88) [MIM:615429], Pathogenic 85,389,806(+) GGCCT(C/T)GAGAG nc-transcript-variant, reference, missense
rs10165623 -- 85,355,765(+) AAGGA(A/C)AGGGG intron-variant, nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime
rs10210010 -- 85,382,921(+) agact(C/T)tacca intron-variant
rs10865477 -- 85,370,277(+) GTGGG(C/G)TGGGT intron-variant
rs111286788 -- 85,380,587(+) GTGGT(A/G)CAATT intron-variant

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

Variant ID Type Subtype PubMed ID
esv3451881 CNV insertion 20981092
esv3575266 CNV gain 25503493
nsv1114100 CNV deletion 24896259
nsv7314 OTHER inversion 18451855
nsv834282 CNV gain 17160897
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

Human Gene Mutation Database (HGMD)
ELMOD3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ELMOD3

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

Disorders for ELMOD3 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
deafness, autosomal recessive 88
  • autosomal recessive nonsyndromic deafness 88
autosomal recessive non-syndromic sensorineural deafness type dfnb
  • autosomal recessive isolated neurosensory deafness type dfnb
autosomal recessive nonsyndromic deafness
- 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 64
  2. 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 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. 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 64
  5. 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 64

Products for ELMOD3 Gene

Sources for ELMOD3 Gene

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