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

Gene Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	392617
Gene name Gene Name - the full gene name approved by the HGNC.	Extracellular leucine rich repeat and fibronectin type III domain containing 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ELFN1
Synonyms (NCBI Gene) Gene synonyms aliases	PPP1R28
Chromosome Chromosome number	7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	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

Protein

UniProt ID

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

Show/Hide Unknown Diseases (4)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Coronary artery disease	Coronary artery disease	N/A	N/A	GWAS
Diabetes	Type 2 diabetes	N/A	N/A	GWAS
Myocardial Infarction	Myocardial infarction	N/A	N/A	GWAS
Stress Disorder	Post-traumatic stress disorder	N/A	N/A	GWAS

Show/Hide Text Mining Associations (12)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Carcinoma Non Small Cell Lung	Associate	35431233
Colorectal Neoplasms	Associate	31929141, 33111631, 33750326, 34337713, 35193569, 35265722, 35857351
Endometrial Neoplasms	Associate	35634444
Intellectual Disability	Associate	34452636
Lymphatic Metastasis	Stimulate	35431233
Lymphoma Large B Cell Diffuse	Associate	35874768
Mental Disorders	Associate	39706190
Neoplasms	Stimulate	32779991
Neoplasms	Associate	33750326, 34337713, 35190823, 35431233, 35634444, 35857351, 36876422
Ovarian Neoplasms	Associate	32779991
Stomach Neoplasms	Stimulate	36876422
Uveal melanoma	Associate	35251374

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