Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	83715
Gene name	Espin
Gene symbol	ESPN
Synonyms (NCBI Gene)	DFNB36LP2654USH1M
Chromosome	1
Chromosome location	1p36.31
Summary	This gene encodes a multifunctional actin-bundling protein. It plays a major role in regulating the organization, dimensions, dynamics, and signaling capacities of the actin filament-rich, microvillus-type specializations that mediate sensory transduction

Show/Hide all (13)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121908134	A>C	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs121908135	G>A,T	Pathogenic, uncertain-significance	Genic downstream transcript variant, missense variant, coding sequence variant
rs121908136	G>A	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs752649606	G>A,T	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs754472294	C>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1220317427	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained, genic upstream transcript variant
rs1485674839	G>C,T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant, stop gained
rs1557690051	G>A	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs1557720377	GGCGGGACCTCCTGCGGA>-	Pathogenic	Inframe deletion, coding sequence variant, genic downstream transcript variant
rs1569712066	->G	Pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, downstream transcript variant, 3 prime UTR variant, upstream transcript variant, genic upstream transcript variant, coding sequence variant
rs1569726455	AGAG>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1569770998	TCAG>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1569771486	AAG>-	Pathogenic	Genic downstream transcript variant, intron variant, coding sequence variant, inframe deletion

128

Show/Hide all (128)

miRTarBase ID	miRNA	Experiments
MIRT970253	hsa-miR-1295	CLIP-seq
MIRT970254	hsa-miR-1324	CLIP-seq
MIRT970255	hsa-miR-1538	CLIP-seq
MIRT970256	hsa-miR-1908	CLIP-seq
MIRT970257	hsa-miR-2682	CLIP-seq
MIRT970258	hsa-miR-2861	CLIP-seq
MIRT970259	hsa-miR-296-5p	CLIP-seq
MIRT970260	hsa-miR-3064-5p	CLIP-seq
MIRT970261	hsa-miR-3125	CLIP-seq
MIRT970262	hsa-miR-3127-3p	CLIP-seq
MIRT970263	hsa-miR-3136-5p	CLIP-seq
MIRT970264	hsa-miR-3180	CLIP-seq
MIRT970265	hsa-miR-3180-3p	CLIP-seq
MIRT970266	hsa-miR-3196	CLIP-seq
MIRT970267	hsa-miR-3202	CLIP-seq
MIRT970268	hsa-miR-3652	CLIP-seq
MIRT970269	hsa-miR-3692	CLIP-seq
MIRT970270	hsa-miR-3916	CLIP-seq
MIRT970271	hsa-miR-3918	CLIP-seq
MIRT970272	hsa-miR-3919	CLIP-seq
MIRT970273	hsa-miR-4257	CLIP-seq
MIRT970274	hsa-miR-4281	CLIP-seq
MIRT970275	hsa-miR-4283	CLIP-seq
MIRT970276	hsa-miR-4328	CLIP-seq
MIRT970277	hsa-miR-4430	CLIP-seq
MIRT970278	hsa-miR-4439	CLIP-seq
MIRT970279	hsa-miR-4449	CLIP-seq
MIRT970280	hsa-miR-4476	CLIP-seq
MIRT970281	hsa-miR-4489	CLIP-seq
MIRT970282	hsa-miR-4492	CLIP-seq
MIRT970283	hsa-miR-4496	CLIP-seq
MIRT970284	hsa-miR-4498	CLIP-seq
MIRT970285	hsa-miR-449c	CLIP-seq
MIRT970286	hsa-miR-4505	CLIP-seq
MIRT970287	hsa-miR-4512	CLIP-seq
MIRT970288	hsa-miR-4513	CLIP-seq
MIRT970289	hsa-miR-4514	CLIP-seq
MIRT970290	hsa-miR-4532	CLIP-seq
MIRT970291	hsa-miR-4668-5p	CLIP-seq
MIRT970292	hsa-miR-4685-5p	CLIP-seq
MIRT970293	hsa-miR-4692	CLIP-seq
MIRT970294	hsa-miR-4706	CLIP-seq
MIRT970295	hsa-miR-4730	CLIP-seq
MIRT970296	hsa-miR-4731-5p	CLIP-seq
MIRT970297	hsa-miR-4733-3p	CLIP-seq
MIRT970298	hsa-miR-4745-3p	CLIP-seq
MIRT970299	hsa-miR-4747-3p	CLIP-seq
MIRT970300	hsa-miR-4749-5p	CLIP-seq
MIRT970301	hsa-miR-4756-3p	CLIP-seq
MIRT970302	hsa-miR-4758-3p	CLIP-seq
MIRT970303	hsa-miR-542-5p	CLIP-seq
MIRT970304	hsa-miR-615-5p	CLIP-seq
MIRT970305	hsa-miR-658	CLIP-seq
MIRT970306	hsa-miR-663	CLIP-seq
MIRT970307	hsa-miR-762	CLIP-seq
MIRT1987542	hsa-miR-147b	CLIP-seq
MIRT970256	hsa-miR-1908	CLIP-seq
MIRT1987543	hsa-miR-214	CLIP-seq
MIRT970261	hsa-miR-3125	CLIP-seq
MIRT970263	hsa-miR-3136-5p	CLIP-seq
MIRT1987544	hsa-miR-342-5p	CLIP-seq
MIRT1987545	hsa-miR-3619-5p	CLIP-seq
MIRT970270	hsa-miR-3916	CLIP-seq
MIRT970272	hsa-miR-3919	CLIP-seq
MIRT1987546	hsa-miR-4291	CLIP-seq
MIRT970278	hsa-miR-4439	CLIP-seq
MIRT1987547	hsa-miR-4446-3p	CLIP-seq
MIRT1987548	hsa-miR-4453	CLIP-seq
MIRT1987549	hsa-miR-4459	CLIP-seq
MIRT1987550	hsa-miR-4466	CLIP-seq
MIRT970283	hsa-miR-4496	CLIP-seq
MIRT1987551	hsa-miR-4497	CLIP-seq
MIRT970288	hsa-miR-4513	CLIP-seq
MIRT1987552	hsa-miR-4538	CLIP-seq
MIRT1987553	hsa-miR-4664-5p	CLIP-seq
MIRT1987554	hsa-miR-4675	CLIP-seq
MIRT970294	hsa-miR-4706	CLIP-seq
MIRT1987555	hsa-miR-4721	CLIP-seq
MIRT1987556	hsa-miR-4722-5p	CLIP-seq
MIRT1987557	hsa-miR-4723-5p	CLIP-seq
MIRT1987558	hsa-miR-4728-5p	CLIP-seq
MIRT970295	hsa-miR-4730	CLIP-seq
MIRT970296	hsa-miR-4731-5p	CLIP-seq
MIRT1987559	hsa-miR-4741	CLIP-seq
MIRT970300	hsa-miR-4749-5p	CLIP-seq
MIRT970301	hsa-miR-4756-3p	CLIP-seq
MIRT1987560	hsa-miR-4779	CLIP-seq
MIRT970303	hsa-miR-542-5p	CLIP-seq
MIRT1987561	hsa-miR-635	CLIP-seq
MIRT1987562	hsa-miR-646	CLIP-seq
MIRT970306	hsa-miR-663	CLIP-seq
MIRT1987563	hsa-miR-675	CLIP-seq
MIRT1987564	hsa-miR-744	CLIP-seq
MIRT1987565	hsa-miR-761	CLIP-seq
MIRT1987566	hsa-miR-922	CLIP-seq
MIRT2221975	hsa-miR-103a	CLIP-seq
MIRT2221976	hsa-miR-107	CLIP-seq
MIRT2221977	hsa-miR-1270	CLIP-seq
MIRT2221978	hsa-miR-1285	CLIP-seq
MIRT970259	hsa-miR-296-5p	CLIP-seq
MIRT2221979	hsa-miR-3127-5p	CLIP-seq
MIRT2221980	hsa-miR-3187-5p	CLIP-seq
MIRT1987544	hsa-miR-342-5p	CLIP-seq
MIRT2221981	hsa-miR-34a	CLIP-seq
MIRT2221982	hsa-miR-34c-5p	CLIP-seq
MIRT2221983	hsa-miR-378g	CLIP-seq
MIRT970271	hsa-miR-3918	CLIP-seq
MIRT2221984	hsa-miR-3944-5p	CLIP-seq
MIRT2221985	hsa-miR-4314	CLIP-seq
MIRT2221986	hsa-miR-4467	CLIP-seq
MIRT2221987	hsa-miR-4486	CLIP-seq
MIRT2221988	hsa-miR-449a	CLIP-seq
MIRT2221989	hsa-miR-449b	CLIP-seq
MIRT2221990	hsa-miR-4531	CLIP-seq
MIRT2221991	hsa-miR-4655-5p	CLIP-seq
MIRT1987553	hsa-miR-4664-5p	CLIP-seq
MIRT970294	hsa-miR-4706	CLIP-seq
MIRT1987558	hsa-miR-4728-5p	CLIP-seq
MIRT2221992	hsa-miR-4749-3p	CLIP-seq
MIRT970300	hsa-miR-4749-5p	CLIP-seq
MIRT2221993	hsa-miR-4793-5p	CLIP-seq
MIRT2221994	hsa-miR-483-3p	CLIP-seq
MIRT2221995	hsa-miR-486-3p	CLIP-seq
MIRT2221996	hsa-miR-508-5p	CLIP-seq
MIRT2221997	hsa-miR-612	CLIP-seq
MIRT2221998	hsa-miR-620	CLIP-seq
MIRT2387541	hsa-miR-4508	CLIP-seq
MIRT970296	hsa-miR-4731-5p	CLIP-seq

Show/Hide all (21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003779	Function	Actin binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005902	Component	Microvillus	IDA	29572253
GO:0005902	Component	Microvillus	IEA
GO:0005903	Component	Brush border	ISS	9763424
GO:0007605	Process	Sensory perception of sound	IEA
GO:0017124	Function	SH3 domain binding	ISS	12598619
GO:0030034	Process	Microvillar actin bundle assembly	IMP	29572253
GO:0031941	Component	Filamentous actin	ISS	8799813
GO:0032420	Component	Stereocilium	IDA	29572253
GO:0032420	Component	Stereocilium	IEA
GO:0032426	Component	Stereocilium tip	ISS
GO:0042995	Component	Cell projection	IEA
GO:0043226	Component	Organelle	IEA
GO:0051015	Function	Actin filament binding	IBA
GO:0051015	Function	Actin filament binding	ISS	8799813
GO:0051017	Process	Actin filament bundle assembly	IBA
GO:0098858	Component	Actin-based cell projection	IEA
GO:0098862	Component	Cluster of actin-based cell projections	IEA

MIM	HGNC	e!Ensembl
606351	13281	ENSG00000187017

B1AK53

Protein name

Espin (Autosomal recessive deafness type 36 protein) (Ectoplasmic specialization protein)

Protein function

Multifunctional actin-bundling protein. Plays a major role in regulating the organization, dimension, dynamics and signaling capacities of the actin filament-rich microvilli in the mechanosensory and chemosensory cells (PubMed:29572253). Require

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12796	Ank_2	6 → 101	Ankyrin repeats (3 copies)	Repeat
PF12796	Ank_2	108 → 203	Ankyrin repeats (3 copies)	Repeat
PF12796	Ank_2	142 → 237	Ankyrin repeats (3 copies)	Repeat
PF12796	Ank_2	195 → 271	Ankyrin repeats (3 copies)	Repeat
PF02205	WH2	648 → 675	WH2 motif	Family

Sequence

MALEQALQAARQGELDVLRSLHAAGLLGPSLRDPLDALPVHHAARAGKLHCLRFLVEEAA
LPAAARARNGATPAHDASATGHLACLQWLLSQGGCRVQDKDNSGATVLHLAARFGHPEVV
NWLLHHGGGDPTAATDMGALPIHYAAAKGDFPSLRLLVEHYPEGVNAQTKNGATPLYLAC
QEGHLEVTQYLVQECGADPHARAHDGMTPLHAAAQMGHSPVIVWLVSCTDVSLSEQDKDG
ATAMHFAASRGHTKVLSWLLLHGGEISADLWGGTPLHDAAENGELECCQILVVNGAELDV
RDRDGYTAADLSDFNGHSHCTRYLRTVENLSVEHRVLSRDPSAELEAKQPDSGMSSPNTT
VSVQPLNFDLSSPTSTLSNYDSCSSSHSSIKGQHPPCGLSSARAADIQSYMDMLNPELGL
PRGTIGKPTPPPPPPSFPPPPPPPGTQLPPPPPGYPAPKPPVGPQAADIYMQTKNKLRHV
ETEALKKELSSCDGHDGLRRQDSSRKPRAFSKQPSTGDYYRQLGRCPGETLAARPGMAHS
EEVRARQPARAGCPRLGPAARGSLEGPSAPPQAALLPGNHVPNGCAADPKASRELPPPPP
PPPPPLPEAASSPPPAPPLPLESAGPGCGQRRSSSSTGSTKSFNMMSPTGDNSELLAEIK
AGKSLKPTPQSKGLTTVFSGIGQPAFQPDSPLPSVSPALSPVRSPTPPAAGFQPLLNGSL
VPVPPTTPAPGVQLDVEALIPTHDEQGRPIPEWKRQVMVRKMQLKMQEEEEQRRKEEEEE
ARLASMPAWRRDLLRKKLEEEREQKRKEEERQKQEELRREKEQSEKLRTLGYDESKLAPW
QRQVILKKGDIAKY

Sequence length

854

Interactions

View interactions

105

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal recessive nonsyndromic hearing loss 36	Pathogenic; Likely pathogenic	rs2148538836, rs1644131579, rs1569770998, rs1569726455, rs1569771486, rs1643945526, rs1046987961, rs2522884028, rs752649606, rs754472294, rs1485674839, rs1643944047	RCV001728006 RCV001808246 RCV000004668 RCV000004669 RCV003332997 RCV003155544 RCV003155552 RCV003314354 RCV003444565 RCV000681529 RCV000761233 RCV001264809
Deafness, autosomal recessive 36, without vestibular involvement	Pathogenic	rs1569712066	RCV000004674
Deafness, without vestibular involvement, autosomal dominant	Pathogenic; Likely pathogenic	rs121908134, rs121908136, rs1569771486	RCV000004670 RCV000004672 RCV000004673
Hearing loss, autosomal recessive	Likely pathogenic; Pathogenic	rs754472294	RCV001291325
Rare genetic deafness	Likely pathogenic	rs2522812173, rs2522706561	RCV004018183 RCV004018215
Usher syndrome type 1	Pathogenic	rs1557720377	RCV000680222
Usher syndrome, type 1M	Pathogenic	rs1557720377	RCV000853554

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs12092014	RCV005905784
Cervical cancer	Benign; Likely benign	rs116163286	RCV005894941
ESPN-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity; Uncertain significance	rs753599663, rs543768706, rs767493145, rs145306517, rs368890910, rs761087054, rs143439475, rs752185152, rs1028888897, rs373242735, rs116163286, rs142850918, rs112712922, rs776899743, rs2522956116 View all (11 more)	RCV003918847 RCV003931168 RCV003966172 RCV004758814 RCV003948626 RCV003956284 RCV003966249 RCV003948759 RCV004758833 RCV003977610 RCV003947694 RCV003927901 RCV003949085 RCV003931877 RCV003977243 RCV003963932 RCV003924340 RCV003932082 RCV003935383 RCV004758698 RCV004730998 RCV003983298 RCV003912996 RCV003950611 RCV003970456 RCV003953425
Gastric cancer	Benign	rs12092014	RCV005905785
Malignant tumor of esophagus	Likely benign	rs112678307, rs568212325	RCV005919330 RCV005926166
Ovarian serous cystadenocarcinoma	Likely benign	rs375198732	RCV005903058
Retinal dystrophy	Uncertain significance; Benign	rs367832657, rs867037570, rs768433856, rs143577178, rs199502924, rs368253130, rs189442618	RCV004815584 RCV004815614 RCV004816957 RCV004816368 RCV004816367 RCV004818279 RCV004817755
Sensorineural hearing loss disorder	Uncertain significance	rs921702586, rs776386029	RCV000626973 RCV000856700
Thymoma	Benign	rs12092014	RCV005905786
Uterine corpus endometrial carcinoma	Likely benign; Uncertain significance	rs112678307, rs1399633263	RCV005919331 RCV005868467

Show/Hide Text Mining Associations (8)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Bartter Syndrome	Associate	21937999
Breast Neoplasms	Associate	32412047
Deafness	Associate	20505086
Hearing Loss Sensorineural	Associate	31677115
Nephritis Hereditary	Associate	31677115
Nonsyndromic Deafness	Associate	13680526, 31389194
Nonsyndromic sensorineural hearing loss	Associate	21937999, 30733538
Severe Acute Respiratory Syndrome	Associate	30733538

ESPN (espin)