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Aliases for EXPH5 Gene

Aliases for EXPH5 Gene

  • Exophilin 5 2 3 5
  • Synaptotagmin-Like Protein Homolog Lacking C2 Domains B 3 4
  • Synaptotagmin-Like Homologue Lacking C2 Domains B 2 3
  • Slp Homolog Lacking C2 Domains B 3 4
  • SLAC2-B 3 4
  • SLAC2B 3 4
  • Exophilin-5 3
  • KIAA0624 4

External Ids for EXPH5 Gene

Previous GeneCards Identifiers for EXPH5 Gene

  • GC11M107885
  • GC11M108376
  • GC11M104301

Summaries for EXPH5 Gene

Entrez Gene Summary for EXPH5 Gene

  • The protein encoded by this gene is a member of the synaptotagmin-like protein (Slp) family lacking a C2 domain. It contains an N-terminal synaptotagmin-like homology domain (SHD), and is a ras-related protein Rab-27B effector protein. This protein is thought to be involved in exosome secretion and intracellular vesicle trafficking. Reduced expression of this gene results in keratin filament defects. Mutations in this gene have been associated with some cases of epidermolysis bullosa, an inherited skin fragility disorder. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]

GeneCards Summary for EXPH5 Gene

EXPH5 (Exophilin 5) is a Protein Coding gene. Diseases associated with EXPH5 include Epidermolysis Bullosa, Nonspecific, Autosomal Recessive and Ms4a1-Related Common Variable Immune Deficiency. Among its related pathways are Deregulation of Rab and Rab Effector Genes in Bladder Cancer. GO annotations related to this gene include Rab GTPase binding.

UniProtKB/Swiss-Prot for EXPH5 Gene

  • May act as Rab effector protein and play a role in vesicle trafficking.

Gene Wiki entry for EXPH5 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EXPH5 Gene

Genomics for EXPH5 Gene

Regulatory Elements for EXPH5 Gene

Enhancers for EXPH5 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
GH11G108559 0.8 ENCODE 10.9 +32.4 32364 4.1 PKNOX1 TEAD4 FEZF1 ZIC2 ZNF2 ZFHX2 ZNF766 ZNF366 ZNF10 TSHZ1 KDELC2 EXPH5 ATM GC11M108506
GH11G108570 0.7 ENCODE 5.8 +22.0 22001 2.2 SOX13 PKNOX1 KLF17 FEZF1 ZIC2 ZNF507 GATA3 ZSCAN5C TCF7L2 SOX5 EXPH5 LOC203930 GC11M108506
GH11G108606 0.7 ENCODE dbSUPER 5.6 -13.0 -12954 1.0 GATA3 ATF2 DDX10 EXPH5
GH11G108614 1.6 FANTOM5 Ensembl ENCODE dbSUPER 2 -22.9 -22926 3.6 ZFP64 FOS ZNF426 CEBPB ZNF623 ZNF781 ZNF518A ZNF555 IKZF1 STAT3 DDX10 KDELC2 LOC203930 EXPH5
GH11G108592 1.5 Ensembl ENCODE dbSUPER 0.7 +0.5 488 2.6 HDGF PKNOX1 ATF1 FOXA2 E2F7 DMAP1 GLI4 YY1 GLIS2 ZNF143 LOC203930 EXPH5 GC11M108506
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around EXPH5 on UCSC Golden Path with GeneCards custom track

Promoters for EXPH5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000044543 265 1401 HDGF PKNOX1 ATF1 FOXA2 E2F7 DMAP1 GLI4 YY1 GLIS2 ZNF143

Genomic Location for EXPH5 Gene

Chromosome:
11
Start:
108,505,431 bp from pter
End:
108,593,765 bp from pter
Size:
88,335 bases
Orientation:
Minus strand

Genomic View for EXPH5 Gene

Genes around EXPH5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EXPH5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EXPH5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EXPH5 Gene

Proteins for EXPH5 Gene

  • Protein details for EXPH5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NEV8-EXPH5_HUMAN
    Recommended name:
    Exophilin-5
    Protein Accession:
    Q8NEV8
    Secondary Accessions:
    • Q2KHM1
    • Q9Y4D6

    Protein attributes for EXPH5 Gene

    Size:
    1989 amino acids
    Molecular mass:
    222519 Da
    Quaternary structure:
    • Interacts with RAB27A.
    SequenceCaution:
    • Sequence=BAA31599.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for EXPH5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EXPH5 Gene

Post-translational modifications for EXPH5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for EXPH5 Gene

Domains & Families for EXPH5 Gene

Protein Domains for EXPH5 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for EXPH5 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with EXPH5: view

No data available for Gene Families and UniProtKB/Swiss-Prot for EXPH5 Gene

Function for EXPH5 Gene

Molecular function for EXPH5 Gene

UniProtKB/Swiss-Prot Function:
May act as Rab effector protein and play a role in vesicle trafficking.

Gene Ontology (GO) - Molecular Function for EXPH5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0017137 Rab GTPase binding IPI 16880209
genes like me logo Genes that share ontologies with EXPH5: view

Phenotypes for EXPH5 Gene

GenomeRNAi human phenotypes for EXPH5:
genes like me logo Genes that share phenotypes with EXPH5: view

Human Phenotype Ontology for EXPH5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for EXPH5 Gene

Localization for EXPH5 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 EXPH5 gene
Compartment Confidence
endosome 5
cytosol 3

Gene Ontology (GO) - Cellular Components for EXPH5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome IDA 19966785
genes like me logo Genes that share ontologies with EXPH5: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for EXPH5 Gene

Pathways & Interactions for EXPH5 Gene

genes like me logo Genes that share pathways with EXPH5: view

Pathways by source for EXPH5 Gene

Interacting Proteins for EXPH5 Gene

Gene Ontology (GO) - Biological Process for EXPH5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003334 keratinocyte development IMP 23176819
GO:0006886 intracellular protein transport IEA --
GO:0045921 positive regulation of exocytosis IMP 19966785
GO:0050714 positive regulation of protein secretion IMP 19966785
GO:0071985 multivesicular body sorting pathway IMP 19966785
genes like me logo Genes that share ontologies with EXPH5: view

No data available for SIGNOR curated interactions for EXPH5 Gene

Drugs & Compounds for EXPH5 Gene

No Compound Related Data Available

Transcripts for EXPH5 Gene

Unigene Clusters for EXPH5 Gene

Exophilin 5:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for EXPH5 Gene

No ASD Table

Relevant External Links for EXPH5 Gene

GeneLoc Exon Structure for
EXPH5
ECgene alternative splicing isoforms for
EXPH5

Expression for EXPH5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EXPH5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for EXPH5 Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x9.0), Skin - Not Sun Exposed (Suprapubic) (x7.7), Brain - Cerebellum (x7.4), and Brain - Cerebellar Hemisphere (x6.7).

Protein differential expression in normal tissues from HIPED for EXPH5 Gene

This gene is overexpressed in Placenta (45.5) and Bone (21.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for EXPH5 Gene



Protein tissue co-expression partners for EXPH5 Gene

NURSA nuclear receptor signaling pathways regulating expression of EXPH5 Gene:

EXPH5

SOURCE GeneReport for Unigene cluster for EXPH5 Gene:

Hs.28540

mRNA Expression by UniProt/SwissProt for EXPH5 Gene:

Q8NEV8-EXPH5_HUMAN
Tissue specificity: Expressed in keratinocytes.

Evidence on tissue expression from TISSUES for EXPH5 Gene

  • Liver(4.2)
  • Nervous system(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for EXPH5 Gene

Germ Layers:
  • ectoderm
Systems:
  • integumentary
Organs:
Limb:
  • nail
General:
  • hair
  • skin
genes like me logo Genes that share expression patterns with EXPH5: view

Primer Products

Orthologs for EXPH5 Gene

This gene was present in the common ancestor of chordates.

Orthologs for EXPH5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EXPH5 34 35
  • 99.31 (n)
dog
(Canis familiaris)
Mammalia EXPH5 34 35
  • 81.76 (n)
cow
(Bos Taurus)
Mammalia EXPH5 34 35
  • 81.31 (n)
mouse
(Mus musculus)
Mammalia Exph5 34 16 35
  • 72.82 (n)
rat
(Rattus norvegicus)
Mammalia Exph5 34
  • 71.9 (n)
oppossum
(Monodelphis domestica)
Mammalia EXPH5 35
  • 44 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EXPH5 35
  • 34 (a)
OneToOne
chicken
(Gallus gallus)
Aves EXPH5 35
  • 30 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EXPH5 35
  • 29 (a)
OneToOne
Species where no ortholog for EXPH5 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for EXPH5 Gene

ENSEMBL:
Gene Tree for EXPH5 (if available)
TreeFam:
Gene Tree for EXPH5 (if available)

Paralogs for EXPH5 Gene

(1) SIMAP similar genes for EXPH5 Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with EXPH5: view

No data available for Paralogs for EXPH5 Gene

Variants for EXPH5 Gene

Sequence variations from dbSNP and Humsavar for EXPH5 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs749309384 Pathogenic 108,509,721(+) TGGGA(-/G)GGTTC intron-variant, reference, frameshift-variant
rs1000026290 -- 108,608,132(+) AAATA(C/T)ACAAC upstream-variant-2KB
rs1000031831 -- 108,520,153(+) CAGAT(C/G)AGCCC intron-variant
rs1000054234 -- 108,602,912(+) AATCC(C/T)CATAA intron-variant
rs1000057090 -- 108,505,131(+) GGCCA(A/G)GGTGG intron-variant, downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for EXPH5 Gene

Variant ID Type Subtype PubMed ID
esv3627677 CNV loss 21293372
esv3627679 CNV loss 21293372
esv3627680 CNV gain 21293372
nsv832263 CNV gain 17160897
nsv832264 CNV gain+loss 17160897

Variation tolerance for EXPH5 Gene

Residual Variation Intolerance Score: 97.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 21.71; 99.33% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EXPH5 Gene

Human Gene Mutation Database (HGMD)
EXPH5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EXPH5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EXPH5 Gene

Disorders for EXPH5 Gene

MalaCards: The human disease database

(5) MalaCards diseases for EXPH5 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
epidermolysis bullosa, nonspecific, autosomal recessive
  • epidermolysis bullosa, nonspecific autosomal recessive
ms4a1-related common variable immune deficiency
  • immunodeficiency, common variable, 5
epidermolysis bullosa
  • acantholysis bullosa
epidermolysis bullosa simplex
  • epidermolysis bullosa intraepidermic
vesiculobullous skin disease
  • skin diseases, vesiculobullous
- elite association - COSMIC cancer census association via MalaCards
Search EXPH5 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

EXPH5_HUMAN
  • Epidermolysis bullosa, non-specific, autosomal recessive (EBNS) [MIM:615028]: A skin disease characterized by blistering of skin and mucosae, following minimal pressure or trauma. Various clinical types with different severity are recognized, ranging from severe mutilating forms to mild forms with limited and localized scarring, and less frequent extracutaneous manifestations. EBNS clinical features mainly comprise trauma-induced scale crusts and intermittent skin blistering. Some of the crusted areas are hemorrhagic and accompanied by occasional bruising. Most lesions clear over several weeks to leave slightly atrophic scars and moderate post-inflammatory hyperpigmentation. {ECO:0000269 PubMed:23176819}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for EXPH5

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EXPH5
genes like me logo Genes that share disorders with EXPH5: view

No data available for Genatlas for EXPH5 Gene

Publications for EXPH5 Gene

  1. Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9734811) Ishikawa K. … Ohara O. (DNA Res. 1998) 2 3 4 64
  2. Germline mutation in EXPH5 implicates the Rab27B effector protein SlaC2-b in inherited skin fragility. (PMID: 23176819) McGrath J.A. … Parsons M. (Am. J. Hum. Genet. 2012) 3 4 64
  3. Rab27a and Rab27b control different steps of the exosome secretion pathway. (PMID: 19966785) Ostrowski M. … Thery C. (Nat. Cell Biol. 2010) 3 22 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. The Slp homology domain of synaptotagmin-like proteins 1-4 and Slac2 functions as a novel Rab27A binding domain. (PMID: 11773082) Kuroda T.S. … Mikoshiba K. (J. Biol. Chem. 2002) 2 3 64

Products for EXPH5 Gene

Sources for EXPH5 Gene

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