ESPNL (espin like)

Gene

• Entrez ID: 339768
• Gene name: Espin like
• Gene symbol: ESPNL
• Synonyms (NCBI Gene): -
• Chromosome: 2
• Chromosome location: 2q37.3

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019678	hsa-miR-375	Microarray	20215506
MIRT970308	hsa-miR-1182	CLIP-seq
MIRT740113	hsa-miR-1253	CLIP-seq
MIRT740116	hsa-miR-1343	CLIP-seq
MIRT970309	hsa-miR-139-5p	CLIP-seq
MIRT970310	hsa-miR-193a-5p	CLIP-seq
MIRT970311	hsa-miR-214	CLIP-seq
MIRT970312	hsa-miR-3120-3p	CLIP-seq
MIRT970313	hsa-miR-3619-5p	CLIP-seq
MIRT970314	hsa-miR-370	CLIP-seq
MIRT970315	hsa-miR-4252	CLIP-seq
MIRT970316	hsa-miR-4291	CLIP-seq
MIRT740112	hsa-miR-4294	CLIP-seq
MIRT970317	hsa-miR-4494	CLIP-seq
MIRT970318	hsa-miR-4519	CLIP-seq
MIRT970319	hsa-miR-4529-5p	CLIP-seq
MIRT970320	hsa-miR-4530	CLIP-seq
MIRT970321	hsa-miR-4640-5p	CLIP-seq
MIRT740115	hsa-miR-4710	CLIP-seq
MIRT970322	hsa-miR-4717-3p	CLIP-seq
MIRT970323	hsa-miR-4726-5p	CLIP-seq
MIRT970324	hsa-miR-4731-5p	CLIP-seq
MIRT740114	hsa-miR-4792	CLIP-seq
MIRT970325	hsa-miR-499a-5p	CLIP-seq
MIRT970326	hsa-miR-634	CLIP-seq
MIRT970327	hsa-miR-661	CLIP-seq
MIRT970328	hsa-miR-761	CLIP-seq
MIRT970329	hsa-miR-765	CLIP-seq
MIRT970330	hsa-miR-922	CLIP-seq
MIRT740113	hsa-miR-1253	CLIP-seq
MIRT740116	hsa-miR-1343	CLIP-seq
MIRT970311	hsa-miR-214	CLIP-seq
MIRT970313	hsa-miR-3619-5p	CLIP-seq
MIRT970315	hsa-miR-4252	CLIP-seq
MIRT970316	hsa-miR-4291	CLIP-seq
MIRT740112	hsa-miR-4294	CLIP-seq
MIRT2221999	hsa-miR-4505	CLIP-seq
MIRT740115	hsa-miR-4710	CLIP-seq
MIRT970324	hsa-miR-4731-5p	CLIP-seq
MIRT740114	hsa-miR-4792	CLIP-seq
MIRT970328	hsa-miR-761	CLIP-seq
MIRT970330	hsa-miR-922	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003779	Function	Actin binding	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005737	Component	Cytoplasm	IBA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0007605	Process	Sensory perception of sound	ISS
GO:0032420	Component	Stereocilium	IEA
GO:0032426	Component	Stereocilium tip	IEA
GO:0032426	Component	Stereocilium tip	ISS
GO:0042995	Component	Cell projection	IEA
GO:0051015	Function	Actin filament binding	IBA
GO:0051015	Function	Actin filament binding	IEA
GO:0051015	Function	Actin filament binding	ISS
GO:0051017	Process	Actin filament bundle assembly	IBA

Other IDs

• MIM: 619974
• HGNC: 27937
• e!Ensembl: ENSG00000144488

Protein

• UniProt ID: Q6ZVH7
• Protein name: Espin-like protein
• Protein function: Binds to but does not cross-link actin. Required for the formation and maintenance of inner ear hair cell stereocilia and staircase formation. Essential for normal hearing.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12796	Ank_2	7 → 101	Ankyrin repeats (3 copies)	Repeat
  PF12796	Ank_2	86 → 168	Ankyrin repeats (3 copies)	Repeat
  PF12796	Ank_2	108 → 202	Ankyrin repeats (3 copies)	Repeat
  PF12796	Ank_2	175 → 268	Ankyrin repeats (3 copies)	Repeat
  PF13637	Ank_4	271 → 324		Repeat

• Sequence:

  MEKQRALVAAKDGDVATLERLLEAGALGPGITDALGAGLVHHATRAGHLDCVKFLVQRAQ
  LPGNQRAHNGATPAHDAAATGSLAELCWLVREGGCGLQDQDASGVSPLHLAARFGHPVLV
  EWLLHEGHSATLETREGARPLHHAAVSGDLTCLKLLTAAHGSSVNRRTRSGASPLYLACQ
  EGHLHLAQFLVKDCGADVHLRALDGMSALHAAAARGHYSLVVWLVTFTDIGLTARDNEGA
  TALHFAARGGHTPILDRLLLMGTPILRDSWGGTPLHDAAENGQMECCQTLVSHHVDPSLR
  DEDGYTAADLAEYHGHRDCAQYLREVAQPVPLLMTPPPPPFPPPPLLATRRSLEDGRRGG
  PGPGNPSPMSLSPAWPGHPDQPLPREQMTSPAPPRIITSATADPEGTETALAGDTSDGLA
  ALQLDGLPSGDIDGLVPTRDERGQPIPEWKRQVMVRKLQARLGAESSAEAQDNGGSSGPT
  EQAAWRYSQTHQAILGPFGELLTEDDLVYLEKQIADLQLRRRCQEYESELGRLAAELQAL
  LPEPLVSITVNSHFLPRAPGLEVEEASIPAAEPAGSAEASEVAPGVQPLPFWCSHISRLV
  RSLSLLLKGVHGLVQGDEKPSTRPLQDTCREASASPPRSEAQRQIQEWGVSVRTLRGNFE
  SASGPLCGFNPGPCEPGAQHRQCLSGCWPALPKPRSGLASGEPRPGDTEEASDSGISCEE
  VPSEAGAAAGPDLASLRKERIIMLFLSHWRRSAYTPALKTVACRTLGARHAGLRGQEAAR
  SPGPPSPPSEGPRLGHLWQQRSTITHLLGNWKAIMAHVPARQLRRLSRQPRGALSPEQFL
  PHVDGAPVPYSSLSLDLFMLGYFQLLECDLPAEERKLRHLLCFEVFEHLGTHGWEAVRAF
  HKAVTDEVAAGRRAWTDGFEDIKARFFGSSQRPAWDTEPGRKSGLTLLGPLPHAAVPCSG
  PEPTAQRLGSRSQQGSFNGEDICGYINRSFAFWKEKEAEMFNFGE

• Sequence length: 1005

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EOSINOPHILIC ESOPHAGITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations