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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	392617
Gene name	Extracellular leucine rich repeat and fibronectin type III domain containing 1
Gene symbol	ELFN1
Synonyms (NCBI Gene)	PPP1R28
Chromosome	7
Chromosome location	7p22.3

Show/Hide all (48)

miRTarBase ID	miRNA	Experiments	Reference
MIRT618026	hsa-miR-6767-3p	HITS-CLIP	23824327
MIRT618025	hsa-miR-3138	HITS-CLIP	23824327
MIRT618024	hsa-miR-4800-5p	HITS-CLIP	23824327
MIRT618023	hsa-miR-3911	HITS-CLIP	23824327
MIRT618022	hsa-miR-644a	HITS-CLIP	23824327
MIRT618021	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT618020	hsa-miR-147a	HITS-CLIP	23824327
MIRT618019	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT618026	hsa-miR-6767-3p	HITS-CLIP	23824327
MIRT618025	hsa-miR-3138	HITS-CLIP	23824327
MIRT618024	hsa-miR-4800-5p	HITS-CLIP	23824327
MIRT618023	hsa-miR-3911	HITS-CLIP	23824327
MIRT618022	hsa-miR-644a	HITS-CLIP	23824327
MIRT618021	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT618020	hsa-miR-147a	HITS-CLIP	23824327
MIRT618019	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT618026	hsa-miR-6767-3p	HITS-CLIP	23824327
MIRT618025	hsa-miR-3138	HITS-CLIP	23824327
MIRT618024	hsa-miR-4800-5p	HITS-CLIP	23824327
MIRT618023	hsa-miR-3911	HITS-CLIP	23824327
MIRT618022	hsa-miR-644a	HITS-CLIP	23824327
MIRT618021	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT618020	hsa-miR-147a	HITS-CLIP	23824327
MIRT618019	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT618026	hsa-miR-6767-3p	HITS-CLIP	23824327
MIRT618025	hsa-miR-3138	HITS-CLIP	23824327
MIRT618024	hsa-miR-4800-5p	HITS-CLIP	23824327
MIRT618023	hsa-miR-3911	HITS-CLIP	23824327
MIRT618022	hsa-miR-644a	HITS-CLIP	23824327
MIRT618021	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT618020	hsa-miR-147a	HITS-CLIP	23824327
MIRT618019	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT960186	hsa-miR-28-5p	CLIP-seq
MIRT960187	hsa-miR-3139	CLIP-seq
MIRT960188	hsa-miR-3657	CLIP-seq
MIRT960189	hsa-miR-708	CLIP-seq
MIRT1984414	hsa-miR-147	CLIP-seq
MIRT1984415	hsa-miR-644	CLIP-seq
MIRT1984414	hsa-miR-147	CLIP-seq
MIRT2219527	hsa-miR-214	CLIP-seq
MIRT2219528	hsa-miR-338-3p	CLIP-seq
MIRT2219529	hsa-miR-3619-5p	CLIP-seq
MIRT2219530	hsa-miR-411	CLIP-seq
MIRT2219531	hsa-miR-4530	CLIP-seq
MIRT2219532	hsa-miR-492	CLIP-seq
MIRT1984415	hsa-miR-644	CLIP-seq
MIRT2219533	hsa-miR-665	CLIP-seq
MIRT2219534	hsa-miR-761	CLIP-seq

Show/Hide all (26)

GO ID	Ontology	Definition	Evidence
GO:0004864	Function	Protein phosphatase inhibitor activity	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0007268	Process	Chemical synaptic transmission	IBA
GO:0007268	Process	Chemical synaptic transmission	IEA
GO:0007268	Process	Chemical synaptic transmission	IEA
GO:0007416	Process	Synapse assembly	IEA
GO:0007601	Process	Visual perception	IEA
GO:0016020	Component	Membrane	IEA
GO:0030425	Component	Dendrite	IEA
GO:0030425	Component	Dendrite	ISS
GO:0038023	Function	Signaling receptor activity	IBA
GO:0042995	Component	Cell projection	IEA
GO:0043679	Component	Axon terminus	IEA
GO:0044306	Component	Neuron projection terminus	IEA
GO:0045184	Process	Establishment of protein localization	IEA
GO:0045184	Process	Establishment of protein localization	IEA
GO:0045202	Component	Synapse	IEA
GO:0050808	Process	Synapse organization	IEA
GO:0050808	Process	Synapse organization	ISS
GO:0060076	Component	Excitatory synapse	IEA
GO:0060076	Component	Excitatory synapse	ISS
GO:0098839	Component	Postsynaptic density membrane	IEA
GO:0098839	Component	Postsynaptic density membrane	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099536	Process	Synaptic signaling	IEA
GO:0099560	Process	Synaptic membrane adhesion	IEA

MIM	HGNC	e!Ensembl
614964	33154	ENSG00000225968

P0C7U0

Protein name

Protein ELFN1 (Extracellular leucine-rich repeat and fibronectin type-III domain-containing protein 1) (Protein phosphatase 1 regulatory subunit 28)

Protein function

Postsynaptic protein that regulates circuit dynamics in the central nervous system by modulating the temporal dynamics of interneuron recruitment. Specifically present in excitatory synapses onto oriens-lacunosum molecular (OLM) interneurons and

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13855	LRR_8	84 → 144	Leucine rich repeat	Repeat
PF13855	LRR_8	133 → 192	Leucine rich repeat	Repeat

Sequence

MAGRGWGALWVCVAAATLLHAGGLARADCWLIEGDKGFVWLAICSQNQPPYEAIPQQINS
TIVDLRLNENRIRSVQYASLSRFGNLTYLNLTKNEIGYIEDGAFSGQFNLQVLQLGYNRL
RNLTEGMLRGLGKLEYLYLQANLIEVVMASSFWECPNIVNIDLSMNRIQQLNSGTFAGLA
KLSVCELYSNPFYCSCELLGFLRWLAAFTNATQTYDRMQCESPPVYSGYYLLGQGRRGHR
SILSKLQSVCTEDSYAAEVVGPPRPASGRSQPGRSPPPPPPPEPSDMPCADDECFSGDGT
TPLVALPTLATQAEARPLIKVKQLTQNSATITVQLPSPFHRMYTLEHFNNSKASTVSRLT
KAQEEIRLTNLFTLTNYTYCVVSTSAGLRHNHTCLTICLPRLPSPPGPVPSPSTATHYIM
TILGCLFGMVLVLGAVYYCLRRRRRQEEKHKKAASAAAAGSLKKTIIELKYGPELEAPGL
APLSQGPLLGPEAVTRIPYLPAAGEVEQYKLVESADTPKASKGSYMEVRTGDPPERRDCE
LGRPGPDSQSSVAEISTIAKEVDKVNQIINNCIDALKSESTSFQGVKSGPVSVAEPPLVL
LSEPLAAKHGFLAPGYKDAFGHSLQRHHSVEAAGPPRASTSSSGSVRSPRAFRAEAVGVH
KAAAAEAKYIEKGSPAADAILTVTPAAAVLRAEAEKGRQYGEHRHSYPGSHPAEPPAPPG
PPPPPPHEGLGRKASILEPLTRPRPRDLAYSQLSPQYHSLSYSSSPEYTCRASQSIWERF
RLSRRRHKEEEEFMAAGHALRKKVQFAKDEDLHDILDYWKGVSAQHKS

Sequence length

828

Interactions

View interactions

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)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Developmental and Epileptic Encephalopathy with Joint Laxity	Likely pathogenic; Pathogenic	rs2128605586	RCV001353345	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
DURSUN-OZGUL NEURODEVELOPMENTAL SYNDROME	Likely pathogenic; Pathogenic	rs2128605586	RCV005639024	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ELFN1-related disorder	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEPTIC ULCER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POST-TRAUMATIC STRESS DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (10)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	25047565		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	31929141, 33111631, 33750326, 34337713, 35193569, 35265722, 35857351	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diverticular Diseases	Diverticular Diseases	GWASCAT_DG	30177863		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	35634444	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	25047565		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	34452636	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	35431233	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	32779991	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	36876422	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	35251374	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

ELFN1 (extracellular leucine rich repeat and fibronectin type III domain containing 1)