Aliases for EXOC3L4 Gene

Aliases for EXOC3L4 Gene

  • Exocyst Complex Component 3 Like 4 2 3 5
  • Exocyst Complex Component 3-Like Protein 4 3 4
  • C14orf73 3 4
  • Chromosome 14 Open Reading Frame 73 2
  • SEC6-Like Protein C14orf73 3
  • EXOC3L4 5

External Ids for EXOC3L4 Gene

Previous HGNC Symbols for EXOC3L4 Gene

  • C14orf73

Previous GeneCards Identifiers for EXOC3L4 Gene

  • GC14P103567
  • GC14P103100
  • GC14P103532
  • GC14P103763
  • GC14P103952
  • GC14P104318
  • GC14P103102
  • GC14P103182
  • GC14P103262
  • GC14P103370

Summaries for EXOC3L4 Gene

GeneCards Summary for EXOC3L4 Gene

EXOC3L4 (Exocyst Complex Component 3 Like 4) is a Protein Coding gene. Diseases associated with EXOC3L4 include Seckel Syndrome 1 and Fanconi Anemia, Complementation Group E. Gene Ontology (GO) annotations related to this gene include SNARE binding. An important paralog of this gene is EXOC3L2.

Additional gene information for EXOC3L4 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EXOC3L4 Gene

Genomics for EXOC3L4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for EXOC3L4 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EXOC3L4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EXOC3L4

Genomic Locations for EXOC3L4 Gene

Genomic Locations for EXOC3L4 Gene
chr14:103,094,202-103,110,562
(GRCh38/hg38)
Size:
16,361 bases
Orientation:
Plus strand
chr14:103,566,481-103,576,896
(GRCh37/hg19)
Size:
10,416 bases
Orientation:
Plus strand

Genomic View for EXOC3L4 Gene

Genes around EXOC3L4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EXOC3L4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EXOC3L4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EXOC3L4 Gene

Proteins for EXOC3L4 Gene

  • Protein details for EXOC3L4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q17RC7-EX3L4_HUMAN
    Recommended name:
    Exocyst complex component 3-like protein 4
    Protein Accession:
    Q17RC7
    Secondary Accessions:
    • Q14CR2

    Protein attributes for EXOC3L4 Gene

    Size:
    722 amino acids
    Molecular mass:
    79896 Da
    Quaternary structure:
    No Data Available

neXtProt entry for EXOC3L4 Gene

Post-translational modifications for EXOC3L4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for EXOC3L4 Gene

Domains & Families for EXOC3L4 Gene

Gene Families for EXOC3L4 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for EXOC3L4 Gene

InterPro:
Blocks:
  • Exocyst complex component Sec6
ProtoNet:

Suggested Antigen Peptide Sequences for EXOC3L4 Gene

GenScript: Design optimal peptide antigens:
  • Exocyst complex component 3-like protein 4 (EX3L4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q17RC7

UniProtKB/Swiss-Prot:

EX3L4_HUMAN :
  • Belongs to the SEC6 family.
Family:
  • Belongs to the SEC6 family.
genes like me logo Genes that share domains with EXOC3L4: view

Function for EXOC3L4 Gene

Phenotypes From GWAS Catalog for EXOC3L4 Gene

Gene Ontology (GO) - Molecular Function for EXOC3L4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000149 SNARE binding IBA 21873635
genes like me logo Genes that share ontologies with EXOC3L4: view
genes like me logo Genes that share phenotypes with EXOC3L4: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EXOC3L4

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for EXOC3L4 Gene

Localization for EXOC3L4 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EXOC3L4 gene
Compartment Confidence
nucleus 2
cytosol 2
cytoskeleton 1
lysosome 1

Gene Ontology (GO) - Cellular Components for EXOC3L4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000145 exocyst IEA,IBA 21873635
genes like me logo Genes that share ontologies with EXOC3L4: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for EXOC3L4 Gene

Pathways & Interactions for EXOC3L4 Gene

PathCards logo

SuperPathways for EXOC3L4 Gene

No Data Available

Gene Ontology (GO) - Biological Process for EXOC3L4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006887 exocytosis IEA,IBA 21873635
GO:0051601 exocyst localization IBA 21873635
genes like me logo Genes that share ontologies with EXOC3L4: view

No data available for Pathways by source and SIGNOR curated interactions for EXOC3L4 Gene

Drugs & Compounds for EXOC3L4 Gene

No Compound Related Data Available

Transcripts for EXOC3L4 Gene

mRNA/cDNA for EXOC3L4 Gene

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EXOC3L4

Alternative Splicing Database (ASD) splice patterns (SP) for EXOC3L4 Gene

No ASD Table

Relevant External Links for EXOC3L4 Gene

GeneLoc Exon Structure for
EXOC3L4

Expression for EXOC3L4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for EXOC3L4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for EXOC3L4 Gene

This gene is overexpressed in Liver (x27.8) and Small Intestine - Terminal Ileum (x4.4).

Protein differential expression in normal tissues from HIPED for EXOC3L4 Gene

This gene is overexpressed in Nasal epithelium (36.2), Testis (8.9), and Peripheral blood mononuclear cells (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for EXOC3L4 Gene



Protein tissue co-expression partners for EXOC3L4 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for EXOC3L4

SOURCE GeneReport for Unigene cluster for EXOC3L4 Gene:

Hs.37712

Evidence on tissue expression from TISSUES for EXOC3L4 Gene

  • Liver(4.4)
genes like me logo Genes that share expression patterns with EXOC3L4: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for EXOC3L4 Gene

Orthologs for EXOC3L4 Gene

This gene was present in the common ancestor of animals.

Orthologs for EXOC3L4 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia EXOC3L4 30 31
  • 99.08 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia EXOC3L4 30 31
  • 79.64 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia EXOC3L4 30
  • 79.35 (n)
-- 31
  • 77 (a)
OneToMany
-- 31
  • 69 (a)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Exoc3l4 30
  • 77.7 (n)
Mouse
(Mus musculus)
Mammalia Exoc3l4 30 17 31
  • 76.96 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia EXOC3L4 31
  • 42 (a)
OneToOne
Chicken
(Gallus gallus)
Aves EXOC3L4 30 31
  • 48.58 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia EXOC3L4 31
  • 23 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia exoc3l4 30
  • 40.41 (n)
Zebrafish
(Danio rerio)
Actinopterygii exoc3l4 30 31
  • 41.4 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta sec6 31
  • 14 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea sec-6 31
  • 13 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 19 (a)
OneToMany
Species where no ortholog for EXOC3L4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • 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)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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 EXOC3L4 Gene

ENSEMBL:
Gene Tree for EXOC3L4 (if available)
TreeFam:
Gene Tree for EXOC3L4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for EXOC3L4: view image

Paralogs for EXOC3L4 Gene

Paralogs for EXOC3L4 Gene

Pseudogenes.org Pseudogenes for EXOC3L4 Gene

genes like me logo Genes that share paralogs with EXOC3L4: view

Variants for EXOC3L4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EXOC3L4 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
rs10131298 - p.Leu185His
rs2297066 - p.Asp93Glu
rs2297067 - p.Arg77Trp
rs729184 - p.Gln675Arg
rs744153 - p.Gln685Glu

Additional dbSNP identifiers (rs#s) for EXOC3L4 Gene

Structural Variations from Database of Genomic Variants (DGV) for EXOC3L4 Gene

Variant ID Type Subtype PubMed ID
esv2116804 CNV deletion 18987734
esv2450303 CNV deletion 19546169
esv2749161 CNV deletion 23290073
esv3635574 CNV gain 21293372
nsv1071174 CNV deletion 25765185
nsv1136187 CNV deletion 24896259
nsv512378 CNV loss 21212237
nsv565970 CNV loss 21841781
nsv565971 CNV loss 21841781
nsv832882 CNV loss 17160897
nsv9168 CNV loss 18304495
nsv952257 CNV deletion 24416366

Variation tolerance for EXOC3L4 Gene

Gene Damage Index Score: 11.34; 92.65% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EXOC3L4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
EXOC3L4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EXOC3L4 Gene

Disorders for EXOC3L4 Gene

MalaCards: The human disease database

(3) MalaCards diseases for EXOC3L4 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with EXOC3L4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EXOC3L4 Gene

Publications for EXOC3L4 Gene

  1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  2. E3 ubiquitin ligase RNF123 targets lamin B1 and lamin-binding proteins. (PMID: 29676528) Khanna R … Parnaik VK (The FEBS journal 2018) 3
  3. Rare variants in the splicing regulatory elements of EXOC3L4 are associated with brain glucose metabolism in Alzheimer's disease. (PMID: 30255815) Miller JE … Alzheimer’s Disease Neuroimaging Initiative (BMC medical genomics 2018) 3
  4. An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. (PMID: 24275569) Bian Y … Zou H (Journal of proteomics 2014) 4
  5. Toward a comprehensive characterization of a human cancer cell phosphoproteome. (PMID: 23186163) Zhou H … Mohammed S (Journal of proteome research 2013) 4

Products for EXOC3L4 Gene

Sources for EXOC3L4 Gene