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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
  • SLAC2B 3 4
  • Exophilin-5 3
  • KIAA0624 4
  • SLAC2-B 3
  • SlaC2-B 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 Epidermolysis Bullosa. Among its related pathways are Deregulation of Rab and Rab Effector Genes in Bladder Cancer. Gene Ontology (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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for EXPH5 Gene

Promoters and enhancers for EXPH5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J108592 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 650.7 +0.5 488 2.6 HDGF PKNOX1 FOXA2 SMAD1 SIN3A DMAP1 YY1 ZNF143 FOS ZNF263 EXPH5 NPAT ATM LOC203930 GC11M108506
GH11J108551 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 650.3 +41.8 41758 2 HDAC1 PKNOX1 ATF1 ZBTB40 RAD21 YY1 ZNF335 TCF12 ZNF766 GATA2 EXPH5 KDELC2 DDX10 GC11M108506
GH11J108607 Promoter/Enhancer 0.7 EPDnew dbSUPER 650.4 -13.8 -13791 0.1 EXPH5 DDX10
GH11J108559 Enhancer 0.7 ENCODE 10.9 +32.4 32364 4.1 PKNOX1 FEZF1 ZIC2 ZNF2 ZFHX2 ZNF366 RUNX3 ZNF10 ZEB2 TSHZ1 KDELC2 EXPH5 ATM GC11M108506
GH11J108570 Enhancer 0.6 ENCODE 5.8 +22.0 22001 2.2 PKNOX1 ZBTB6 HLF KLF17 FEZF1 ZIC2 OSR2 GATA3 ZSCAN5C ZBTB33 EXPH5 LOC203930 GC11M108506
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EXPH5 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EXPH5 gene promoter:
  • AREB6
  • Tal-1beta
  • ITF-2
  • MZF-1
  • SRF
  • SRF (504 AA)
  • STAT1
  • STAT1alpha
  • STAT1beta
  • STAT2

Genomic Locations for EXPH5 Gene

Genomic Locations for EXPH5 Gene
chr11:108,505,431-108,593,765
(GRCh38/hg38)
Size:
88,335 bases
Orientation:
Minus strand
chr11:108,376,158-108,464,465
(GRCh37/hg19)
Size:
88,308 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

Gene Families for EXPH5 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

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 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.

Phenotypes From GWAS Catalog for EXPH5 Gene

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
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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EXPH5

Clone 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 and Subcellular locations from the Human Protein Atlas (HPA) 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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EXPH5

Clone 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
Regions:
Limb:
  • nail
General:
  • hair
  • skin
genes like me logo Genes that share expression patterns with EXPH5: view

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 33
  • 99.31 (n)
OneToOne
dog
(Canis familiaris)
Mammalia EXPH5 34 33
  • 81.76 (n)
OneToOne
cow
(Bos Taurus)
Mammalia EXPH5 34 33
  • 81.31 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Exph5 16 34 33
  • 72.82 (n)
rat
(Rattus norvegicus)
Mammalia Exph5 33
  • 71.9 (n)
oppossum
(Monodelphis domestica)
Mammalia EXPH5 34
  • 44 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EXPH5 34
  • 34 (a)
OneToOne
chicken
(Gallus gallus)
Aves EXPH5 34
  • 30 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EXPH5 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for EXPH5: view image

Paralogs for EXPH5 Gene

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

  • EXPH5_HUMAN
  • E7ENT4_HUMAN
  • E9PC93_HUMAN
  • E9PIT1_HUMAN
  • E9PPH6_HUMAN
  • F5GXG5_HUMAN
  • L0R5A7_HUMAN
  • Q149M6_HUMAN
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 Variation AA Info Type
rs749309384 pathogenic, not provided 108,509,721(-) GGG/GG coding_sequence_variant, frameshift
rs1000026290 -- 108,608,132(-) C/T upstream_transcript_variant
rs1000031831 -- 108,520,153(-) C/G intron_variant
rs1000054234 -- 108,602,912(-) C/T genic_upstream_transcript_variant, intron_variant
rs1000057090 -- 108,505,131(-) A/G downstream_transcript_variant

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)

Additional Variant Information for EXPH5 Gene

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

SNP Genotyping and Copy Number Assay Products

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: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- 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.

Additional Disease Information for 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 research : an international journal for rapid publication of reports on genes and genomes 1998) 2 3 4 58
  2. Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin Fragility. (PMID: 23176819) McGrath JA … Parsons M (American journal of human genetics 2012) 3 4 58
  3. Rab27a and Rab27b control different steps of the exosome secretion pathway. (PMID: 19966785) Ostrowski M … Thery C (Nature cell biology 2010) 3 22 58
  4. 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 58
  5. Melanophilin directly links Rab27a and myosin Va through its distinct coiled-coil regions. (PMID: 12062444) Nagashima K … Izumi T (FEBS letters 2002) 3 4 58

Products for EXPH5 Gene

Sources for EXPH5 Gene

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