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Tbio
EXPH5
Exophilin-5

Protein Summary
Description
May act as Rab effector protein and play a role in vesicle trafficking. 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]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000265843
  • ENSP00000265843
  • ENSG00000110723
  • ENST00000525344
  • ENSP00000432546

Symbol
  • KIAA0624
  • SLAC2B
  • SLAC2B
  • SLAC2-B
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
histone modification site profile
0.78
interacting protein
0.71
gene perturbation
0.68
cell type or tissue
0.66
microRNA
0.66


Related Tools
Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 12.78   (req: < 5)
Gene RIFs: 7   (req: <= 3)
Antibodies: 45   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 12.78   (req: >= 5)
Gene RIFs: 7   (req: > 3)
Antibodies: 45   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 6
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
GWAS Traits (2)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
platelet crit
1
1
1
17.5
lymphocyte count
1
1
1
17.3
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
platelet crit
1
17.5
lymphocyte count
1
17.3
Orthologs (9)
1 – 5 of 9
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
exophilin 5
VGNC:1047
451533
Macaque
exophilin 5
708977
Mouse
MGI:2443248
320051
Rat
RGD:1560308
315663
Dog
exophilin 5
VGNC:40530
489418
Species
Name
OMA
EggNOG
Inparanoid
Chimp
exophilin 5
Macaque
exophilin 5
Mouse
Rat
Dog
exophilin 5
Protein Structure (0 Structures, 1 AlphaFold Model)
RepresentationColor Scheme
AF-Q8NEV8-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

Pathways (1)
Items per page:
1 – 1 of 1
Data Source
Name
Explore in Pharos
Explore in Source
WikiPathways
Deregulation of Rab and Rab Effector Genes in Bladder Cancer
Name
Explore in Pharos
Explore in Source
Deregulation of Rab and Rab Effector Genes in Bladder Cancer
Gene Ontology Terms (7)
Items per page:
10
1 – 1 of 1
GO Term
Evidence
Assigned by
Inferred from Physical Interaction (IPI)
UniProtKB
Protein-Protein Interactions (45)
1 – 10 of 45
NCAPH2
Tbio
Novelty: 0.12134933
p_int: 0.999971361
p_ni: 0.000027553
p_wrong: 0.000001086
Data Source: BioPlex
PRELID2
Tdark
Novelty: 0.38276284
p_int: 0.999942622
p_ni: 0.000046737
p_wrong: 0.000010641
Data Source: BioPlex
HAVCR2
Tbio
Novelty: 0.00155885
p_int: 0.999860248
p_ni: 0.000139307
p_wrong: 4.45e-7
Data Source: BioPlex
RAB27A
Tchem
Family: Enzyme
Novelty: 0.00369416
p_int: 0.999465439
p_ni: 0.00030303
p_wrong: 0.000231531
Score: 0.904
Data Source: BioPlex,STRINGDB
SKAP1
Tbio
Family: Enzyme
Novelty: 0.03753848
p_int: 0.947987743
p_ni: 0.000236033
p_wrong: 0.051776224
Score: 0.186
Data Source: BioPlex,STRINGDB
HSPB8
Tbio
Novelty: 0.00298618
p_int: 0.842106271
p_ni: 0.000336864
p_wrong: 0.157556866
Score: 0.187
Data Source: BioPlex,STRINGDB
MLPH
Tbio
Novelty: 0.01810421
Score: 0.72
Data Source: STRINGDB
FAM208B
Tdark
Novelty: 1.21420488
Score: 0.695
Data Source: STRINGDB
RPH3AL
Tbio
Novelty: 0.03731698
Score: 0.695
Data Source: STRINGDB
C11orf65
Tdark
Novelty: 0.61247408
Score: 0.685
Data Source: STRINGDB
Publication Statistics
PubMed Score  12.78

PubMed score by year
PubTator Score  8.03

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer