EPS8L3 (EPS8 signaling adaptor L3)

Gene

• Entrez ID: 79574
• Gene name: EPS8 signaling adaptor L3
• Gene symbol: EPS8L3
• Synonyms (NCBI Gene): EPS8R3, HYPT5, MUHH2
• Chromosome: 1
• Chromosome location: 1p13.3
• Summary: This gene encodes a protein that is related to epidermal growth factor receptor pathway substrate 8 (EPS8), a substrate for the epidermal growth factor receptor. The function of this protein is unknown. Alternatively spliced transcript variants encoding d

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT967406	hsa-miR-1253	CLIP-seq
MIRT967407	hsa-miR-1285	CLIP-seq
MIRT967408	hsa-miR-2861	CLIP-seq
MIRT967409	hsa-miR-3126-5p	CLIP-seq
MIRT967410	hsa-miR-3187-5p	CLIP-seq
MIRT967411	hsa-miR-3199	CLIP-seq
MIRT967412	hsa-miR-326	CLIP-seq
MIRT967413	hsa-miR-330-5p	CLIP-seq
MIRT967414	hsa-miR-378g	CLIP-seq
MIRT967415	hsa-miR-4428	CLIP-seq
MIRT967416	hsa-miR-4461	CLIP-seq
MIRT967417	hsa-miR-4486	CLIP-seq
MIRT967418	hsa-miR-4740-5p	CLIP-seq
MIRT967419	hsa-miR-580	CLIP-seq
MIRT967420	hsa-miR-612	CLIP-seq
MIRT967421	hsa-miR-2467-5p	CLIP-seq
MIRT967422	hsa-miR-3121-3p	CLIP-seq
MIRT967423	hsa-miR-3150a-3p	CLIP-seq
MIRT967424	hsa-miR-3175	CLIP-seq
MIRT967425	hsa-miR-409-5p	CLIP-seq
MIRT967426	hsa-miR-4667-5p	CLIP-seq
MIRT967427	hsa-miR-4700-5p	CLIP-seq
MIRT967428	hsa-miR-876-3p	CLIP-seq
MIRT967429	hsa-miR-939	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003779	Function	Actin binding	IBA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IDA	14565974
GO:0005515	Function	Protein binding	IPI	14565974
GO:0005737	Component	Cytoplasm	IDA	14565974
GO:0005737	Component	Cytoplasm	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0007266	Process	Rho protein signal transduction	IBA
GO:0032587	Component	Ruffle membrane	IBA
GO:0035023	Process	Regulation of Rho protein signal transduction	IBA
GO:0042634	Process	Regulation of hair cycle	IMP	23099647
GO:0051015	Function	Actin filament binding	IDA	14565974
GO:1900029	Process	Positive regulation of ruffle assembly	IBA

Other IDs

• MIM: 614989
• HGNC: 21297
• e!Ensembl: ENSG00000198758

Protein

• UniProt ID: Q8TE67
• Protein name: Epidermal growth factor receptor kinase substrate 8-like protein 3 (EPS8-like protein 3) (Epidermal growth factor receptor pathway substrate 8-related protein 3) (EPS8-related protein 3)
• PDB: 1WXT
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08416	PTB	28 → 156	Phosphotyrosine-binding domain	Domain
  PF00018	SH3_1	456 → 501	SH3 domain	Domain
  PF18016	SAM_3	520 → 583	SAM domain (Sterile alpha motif)	Domain

• Sequence:

  MSRPSSRAIYLHRKEYSQNLTSEPTLLQHRVEHLMTCKQGSQRVQGPEDALQKLFEMDAQ
  GRVWSQDLILQVRDGWLQLLDIETKEELDSYRLDSIQAMNVALNTCSYNSILSITVQEPG
  LPGTSTLLFQCQEVGAERLKTSLQKALEEELEQRPRLGGLQPGQDRWRGPAMERPLPMEQ
  ARYLEPGIPPEQPHQRTLEHSLPPSPRPLPRHTSAREPSAFTLPPPRRSSSPEDPERDEE
  VLNHVLRDIELFMGKLEKAQAKTSRKKKFGKKNKDQGGLTQAQYIDCFQKIKHSFNLLGR
  LATWLKETSAPELVHILFKSLNFILARCPEAGLAAQVISPLLTPKAINLLQSCLSPPESN
  LWMGLGPAWTTSRADWTGDEPLPYQPTFSDDWQLPEPSSQAPLGYQDPVSLRRGSHRLGS
  TSHFPQEKTHNHDPQPGDPNSRPSSPKPAQPALKMQVLYEFEARNPRELTVVQGEKLEVL
  DHSKRWWLVKNEAGRSGYIPSNILEPLQPGTPGTQGQSPSRVPMLRLSSRPEEVTDWLQA
  ENFSTATVRTLGSLTGSQLLRIRPGELQMLCPQEAPRILSRLEAVRRMLGISP

• Sequence length: 593

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
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPS8L3-related disorder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypotrichosis 5	Uncertain significance	ClinVar CTD, ClinVar, Disgenet, HPO CTD, ClinVar, Disgenet, HPO CTD, ClinVar, Disgenet, HPO CTD, ClinVar, Disgenet, HPO	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MULTIPLE SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alopecia	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial multiple trichoepitheliomata	Multiple Trichoepithelioma	BEFREE	30809827		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	33049985	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	28284560		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	29940761		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	31322213		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	19223546		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	19223546		★☆☆☆☆ Found in Text Mining only
Marie Unna congenital hypotrichosis	Marie Unna hypotrichosis	BEFREE	23099647, 30809827		★☆☆☆☆ Found in Text Mining only
Marie Unna congenital hypotrichosis	Marie Unna hypotrichosis	ORPHANET_DG	23099647		★☆☆☆☆ Found in Text Mining only
Marie Unna hereditary hypotrichosis	Hereditary Hypotrichosis	Orphanet			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	19223546		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	19223546		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	19223546	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach neoplasms	Pubtator	37978443	Associate	★☆☆☆☆ Found in Text Mining only