Gene Gene information from NCBI Gene database.
Entrez ID 23086
Gene name Exophilin 5
Gene symbol EXPH5
Synonyms (NCBI Gene)
EBS4SLAC2-BSLAC2B
Chromosome 11
Chromosome location 11q22.3
Summary 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 tho
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs749309384 G>- Pathogenic Frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
633
miRTarBase ID miRNA Experiments Reference
MIRT052444 hsa-let-7a-5p CLASH 23622248
MIRT036925 hsa-miR-877-3p CLASH 23622248
MIRT658477 hsa-miR-3145-5p HITS-CLIP 23824327
MIRT658476 hsa-miR-4299 HITS-CLIP 23824327
MIRT658475 hsa-miR-4738-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
12
GO ID Ontology Definition Evidence Reference
GO:0003334 Process Keratinocyte development IMP 23176819
GO:0005768 Component Endosome IBA
GO:0005768 Component Endosome IDA 19966785
GO:0006886 Process Intracellular protein transport IEA
GO:0031267 Function Small GTPase binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612878 30578 ENSG00000110723
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8NEV8
Protein name Exophilin-5 (Synaptotagmin-like protein homolog lacking C2 domains b) (SlaC2-b) (Slp homolog lacking C2 domains b)
Protein function May act as Rab effector protein and play a role in vesicle trafficking.
Family and domains
Tissue specificity TISSUE SPECIFICITY: Expressed in keratinocytes. {ECO:0000269|PubMed:23176819}.
Sequence
MTKVPPAFDFSFLNDEEARKILQVLERNEELQRAEKDRISKLQKTKRDIRWLQGVTGEWF
EEIQRKKFCNETDVSQMLKQPLTYRLSKEMAKNDPIELPTSRSKNVTNQKKPTPFSSRMS
FRSSFASLFSFRKSGKETSKLPSLGQKGCDGHAGPPMPVRGAAVQAKIYNSPLENHLVDS
TFVPKPAVMREESGMPPPWDASLLENEFFQVLDDLDSKLAQEQSASSVNTRTPLNYGSRT
QFGHFYSSGNRHGNITERHKKHYNETSNMSIYDILRPGTPREGFKTFSPRTSTIYDMYRT
REPRVFKEDYVQKNTFGSTSLCFDSRQRSALPATGHFTARSLHFPATTQSKSGFIPPRHQ
QSPKRTPLSSIIWNRSDSSRDRENQEEFLRAPSPMEIDPADKYVYPRGFQENKRYESYHS
QNVYQRVSLNAPMENAMSPDTFENSENMPFYHQSNTFTRSFFSNTFGRSGEQRRFGQGPF
WGQEKGHSFWSDFHRSRKSFSSSDRDFEMISMEANSVSAIHGHNVSSEHWESFSSGYGTD
VSRGQEEPHPWQFDFQRSTLDSMVVSHGNETQLTPHFGTPNVCSMTGSSYHVKSSELVSQ
QDSSPVEVHINKEASSFGIAQTLASSFKTSFSQISDDRRNPQSPNLQNPTVTLQKIFPNK
PASHPMRSHTEVTVTSSNSVDSLPLAKSQPNILVTEVNNEKDLNESISEEDKQLSKMDQT
NKAGEIPQPVSQTGISNSLPDFQNPLSQDSAKSNGFGFNASTIISSKKSPRVFSRKDTSK
MYIPHTDKSNDIKQDKRFTENRKLGSTASLPFIQEHRTPPSFPRTDQGCHQELTVNNEDI
SRIITNNHWSSALTDTQNAQYSKCKLTPGHKTSCDSLDLSSAALPDSSPSKNSSLDAPVV
PSTTVFSRRSPSDKDPSLGEREEKDNAGKNQKNQFIVSHSENQERNDSPVPTHDEVVDVK
CHSHSPFRNERGKGKIRHHISCIEKLSKTESISVPTSDHRSLIEANQSNSKVSELDTIYC
TLPRKSSSFLIHGRQSGSKIMAASLRNGPPPFQIKNNVEDAMGNYMLNKFSPSSPESANE
CSKVLSDSALEAPEATERMTNVKSSGSTSVRKGPLPFLINRAMSCPSGEPHASTGREGRK
KPLTSGMDASELTPRAWERIISPVESDSSVRDCSLTKRQHQKENFQEYTEKEGKMAASRR
SVFALSNEDPLPFCSDLSGKERGKTLHKVKTTSTFSVSGDEDNVKCLEVVSIYYTLPRKP
SKKFCNLLQQYTQNTNLLIESPQVETETFPNALEKDKQNYSTREQSGTPSCENLKMSVNS
DQTLTTENMTAFRLSNRGPLAPTLQEMASVEAAVSLPEEESKAREIFSDNLAKTPLGDSE
NKKERGKKLQSETLHTSLMLQRKNVSEEKSENCQQSINSSNSGPSSLPALSEVNIGNSQT
RRSSWECTGSGRAIPFTGSGKCPQKDHTSTAVGDGSSGSQPREGRGDIGTNCQKMTNKTL
SHSESQVFALTPALHKLQLGEETQSDEPNLESLQSEPRELPQRSQEANMTESRKAEDEMQ
KSAWDQPSLPEGNKNKTNLDDLVKGENRSSVKHRLAAMSKASRKFPAKDVSPRRHVATIF
PQSGSRSGFDHLSLGTVECNPLFPEPTPKSAESIGESRLSENGKHVKKSENLLPITVLPN
REPSTHVSNQKSNSISQRHQNEFKNVSESPSKHENSKDVTAAQNLVRESGAPSPITFTSL
REAEFSDNQRRLSPPFPLEPAQKSRVSSPLASFLQQQRSASSLEWEPEPHLYRSKSLKSI
NVHGDLLRKSHPPKVRERHFSESTSIDNALSRLTLGNEFSVNNGYSRRFRSFSELPSCDG
NESWAYRSGTKTGPRSAISIYRPIDYGIFGKEQQLAFLENVKRSLTQGRLWKPSFLKNPG
FLKDDLRNPPNPSESLSSNSPSSQVPEDGLSPSEPLNIYEDDPVDSNCDTDTTTDDEYYL
DENDKESEL
Sequence length 1989
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
59
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive Pathogenic; Likely pathogenic rs2135927905, rs1305450457, rs2135924347, rs763930645, rs2135912697, rs2135920313, rs1228319313, rs747159785, rs763170220, rs749309384 RCV001765142
RCV001765143
RCV001765144
RCV001765145
RCV001765146
RCV001765147
RCV001765148
RCV001783218
RCV002272701
RCV001787092
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
EXPH5-related disorder Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance rs79942405, rs10890850, rs12146512, rs76626971, rs143520508, rs116742815, rs114496868, rs145231502, rs367556701, rs115654729, rs201566549, rs116257574, rs141078173, rs115994428, rs115181682
View all (24 more)
RCV003975796
RCV003910954
RCV003978503
RCV003913605
RCV003923446
RCV003903803
RCV004758242
RCV004758246
RCV003926584
RCV003926638
RCV004758271
RCV004731523
RCV003954248
RCV003929827
RCV003897316
RCV003951962
RCV003952006
RCV003937263
RCV003949792
RCV003914739
RCV003926870
RCV004758293
RCV004758107
RCV003935834
RCV004758115
RCV004758121
RCV004758122
RCV003936151
RCV004758123
RCV004758124
RCV003936169
RCV004758125
RCV004758116
RCV004758126
RCV004758127
RCV003910497
RCV003920542
RCV004758076
RCV004758087
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Blister Associate 23176819, 32890627
Ectodermal Dysplasia Skin Fragility Syndrome Associate 23176819, 32890627
Epidermolysis Bullosa Simplex Associate 32890627
Pulmonary Disease Chronic Obstructive Associate 36746116
Tooth Erosion Associate 32890627