Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23086
Gene name Gene Name - the full gene name approved by the HGNC.
Exophilin 5
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
EXPH5
Synonyms (NCBI Gene) Gene synonyms aliases
EBS4, SLAC2-B, SLAC2B
Disease Acronyms (UniProt) Disease acronyms from UniProt database
EBS4
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q22.3
Summary Summary of gene provided in NCBI Entrez 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 tho
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs749309384 G>- Pathogenic Frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003334 Process Keratinocyte development IMP 23176819
GO:0005768 Component Endosome IBA 21873635
GO:0005768 Component Endosome IDA 19966785
GO:0006886 Process Intracellular protein transport IEA
GO:0031267 Function Small GTPase binding IPI 16880209
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
612878 30578 ENSG00000110723
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Epidermolysis bullosa Epidermolysis Bullosa rs137852757, rs80356682, rs80356680, rs786205094, rs121912482, rs786205095, rs587776813, rs121912487, rs587776814, rs1558092501, rs80356683, rs118203899, rs118203900, rs1558095794, rs118203901
View all (97 more)
Epidermolysis bullosa simplex Epidermolysis Bullosa Simplex, EPIDERMOLYSIS BULLOSA, NONSPECIFIC, AUTOSOMAL RECESSIVE, Epidermolysis bullosa simplex due to exophilin 5 deficiency rs1565118389, rs121918354, rs1558193923, rs786205251, rs786205253, rs786205254, rs80338756, rs864309671, rs137853160, rs864309672, rs137853161, rs59629244, rs60399023, rs58330629, rs57121345
View all (61 more)
27730671, 26719633, 23176819
Unknown
Disease term Disease name Evidence References Source
Epidermolysis Bullosa Simplex epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive GenCC
Uterine Fibroids Uterine Fibroids GWAS
Prostate cancer Prostate cancer Together, these results show that PRRX2 is an oncogene and might play a role in the aggressiveness of PC within the DNPC population. GWAS, CBGDA
Associations from Text Mining
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