EBPL (EBP like)

Gene

• Entrez ID: 84650
• Gene name: EBP like
• Gene symbol: EBPL
• Synonyms (NCBI Gene): EBRP
• Chromosome: 13
• Chromosome location: 13q14.2

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT020038	hsa-miR-375	Microarray	20215506
MIRT021780	hsa-miR-132-3p	Microarray	17612493
MIRT717137	hsa-miR-140-3p	HITS-CLIP	19536157
MIRT717136	hsa-miR-4691-3p	HITS-CLIP	19536157
MIRT717135	hsa-miR-7106-3p	HITS-CLIP	19536157
MIRT717134	hsa-miR-2355-5p	HITS-CLIP	19536157
MIRT717137	hsa-miR-140-3p	HITS-CLIP	19536157
MIRT717136	hsa-miR-4691-3p	HITS-CLIP	19536157
MIRT717135	hsa-miR-7106-3p	HITS-CLIP	19536157
MIRT717134	hsa-miR-2355-5p	HITS-CLIP	19536157
MIRT951468	hsa-miR-4433	CLIP-seq
MIRT951469	hsa-miR-4459	CLIP-seq
MIRT951470	hsa-miR-4768-3p	CLIP-seq
MIRT2520644	hsa-miR-1	CLIP-seq
MIRT2520645	hsa-miR-151-3p	CLIP-seq
MIRT2520646	hsa-miR-206	CLIP-seq
MIRT2520647	hsa-miR-3673	CLIP-seq
MIRT2520648	hsa-miR-4280	CLIP-seq
MIRT951468	hsa-miR-4433	CLIP-seq
MIRT951469	hsa-miR-4459	CLIP-seq
MIRT2520649	hsa-miR-4463	CLIP-seq
MIRT2520650	hsa-miR-4499	CLIP-seq
MIRT951470	hsa-miR-4768-3p	CLIP-seq
MIRT2520651	hsa-miR-494	CLIP-seq
MIRT2520652	hsa-miR-520g	CLIP-seq
MIRT2520653	hsa-miR-520h	CLIP-seq
MIRT2520654	hsa-miR-613	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0016020	Component	Membrane	IEA
GO:0016125	Process	Sterol metabolic process	IEA
GO:0047750	Function	Cholestenol delta-isomerase activity	IEA

Other IDs

• MIM: 617335
• HGNC: 18061
• e!Ensembl: ENSG00000123179

Protein

• UniProt ID: Q9BY08
• Protein name: Emopamil-binding protein-like (Emopamil-binding-related protein)
• Protein function: Does not possess sterol isomerase activity and does not bind sigma ligands.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF05241	EBP	76 → 187		Family

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed with highest levels in liver, lung and kidney. {ECO:0000269|PubMed:12760743}.
• Sequence:

  MGAEWELGAEAGGSLLLCAALLAAGCALGLRLGRGQGAADRGALIWLCYDALVHFALEGP
  FVYLSLVGNVANSDGLIASLWKEYGKADARWVYFDPTIVSVEILTVALDGSLALFLIYAI
  VKEKYYRHFLQITLCVCELYGCWMTFLPEWLTRSPNLNTSNWLYCWLYLFFFNGVWVLIP
  GLLLWQSWLELKKMHQKETSSVKKFQ

• Sequence length: 206

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
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Antisocial Personality Disorder	Antisocial Personality Disorder	BEFREE	31526826		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	28884815, 29846299, 29867417		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	28884815, 29846299, 29867417		★☆☆☆☆ Found in Text Mining only
Aphasia	Aphasia	BEFREE	31119978		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	33482886	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	28475580		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL SEPTAL DEFECT 1	Atrial Septal Defect	BEFREE	30974225		★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	BEFREE	30974225		★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	17977520, 30155685		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	28633887, 28647439, 29248615, 30165814, 30890474, 30974225		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	28225070		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	29239976, 29515476, 30195425, 30366168, 30443957		★☆☆☆☆ Found in Text Mining only
Dyslexia	Dyslexia	BEFREE	29488880, 30389554		★☆☆☆☆ Found in Text Mining only
Eating Disorders	Eating Disorders	BEFREE	28057515		★☆☆☆☆ Found in Text Mining only
Erectile dysfunction	Erectile Dysfunction	BEFREE	28057515		★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	BEFREE	28474363		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	23686745		★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	BEFREE	30396058		★☆☆☆☆ Found in Text Mining only
Learning Disorders	Learning Disorders	BEFREE	31004577		★☆☆☆☆ Found in Text Mining only
Lubs X-linked mental retardation syndrome	Syndromic Mental Retardation, X-linked	BEFREE	28870827		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	30195425		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	14966900		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	14966900		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	29239976, 29515476, 30195425, 30366168, 30443957		★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	22305338		★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	29937326		★☆☆☆☆ Found in Text Mining only
Obsessive-Compulsive Disorder	Obsessive-Compulsive Disorder	BEFREE	30639704, 31803089		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	14966900		★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	BEFREE	14966900		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	28287777		★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	29248615, 30890474		★☆☆☆☆ Found in Text Mining only
Phobic anxiety disorder	Phobic Anxiety Disorder	BEFREE	29107659		★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	30059149, 31343077		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	21459037, 29937326		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	16707858, 28474363, 28824360, 30863293, 31518673		★☆☆☆☆ Found in Text Mining only
Specific language impairment	Specific Language Impairment	BEFREE	29676529		★☆☆☆☆ Found in Text Mining only
Williams Syndrome	Williams Syndrome	BEFREE	28685402		★☆☆☆☆ Found in Text Mining only