Gene Gene information from NCBI Gene database.
Entrez ID 114794
Gene name Extracellular leucine rich repeat and fibronectin type III domain containing 2
Gene symbol ELFN2
Synonyms (NCBI Gene)
LRRC62PPP1R29
Chromosome 22
Chromosome location 22q13.1
miRNA miRNA information provided by mirtarbase database.
179
miRTarBase ID miRNA Experiments Reference
MIRT960190 hsa-miR-1236 CLIP-seq
MIRT960191 hsa-miR-1247 CLIP-seq
MIRT960192 hsa-miR-1250 CLIP-seq
MIRT960193 hsa-miR-1275 CLIP-seq
MIRT960194 hsa-miR-1324 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
GO ID Ontology Definition Evidence Reference
GO:0004864 Function Protein phosphatase inhibitor activity IEA
GO:0005615 Component Extracellular space HDA 22664934
GO:0005886 Component Plasma membrane IBA
GO:0007268 Process Chemical synaptic transmission IBA
GO:0007268 Process Chemical synaptic transmission IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
620223 29396 ENSG00000166897
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5R3F8
Protein name Protein phosphatase 1 regulatory subunit 29 (Extracellular leucine-rich repeat and fibronectin type III domain-containing protein 2) (Leucine-rich repeat and fibronectin type-III domain-containing protein 6) (Leucine-rich repeat-containing protein 62)
Protein function Inhibits phosphatase activity of protein phosphatase 1 (PP1) complexes.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13855 LRR_8 79 139 Leucine rich repeat Repeat
PF13855 LRR_8 132 187 Leucine rich repeat Repeat
Sequence
MLRLGLCAAALLCVCRPGAVRADCWLIEGDKGYVWLAICSQNQPPYETIPQHINSTVHDL
RLNENKLKAVLYSSLNRFGNLTDLNLTKNEISYIEDGAFLGQSSLQVLQLGYNKLSNLTE
GMLRGMSRLQF
LFVQHNLIEVVTPTAFSECPSLISIDLSSNRLSRLDGATFASLASLMVC
ELAGNPF
NCECDLFGFLAWLVVFNNVTKNYDRLQCESPREFAGYPLLVPRPYHSLNAITV
LQAKCRNGSLPARPVSHPTPYSTDAQREPDENSGFNPDEILSVEPPASSTTDASAGPAIK
LHHVTFTSATLVVIIPHPYSKMYILVQYNNSYFSDVMTLKNKKEIVTLDKLRAHTEYTFC
VTSLRNSRRFNHTCLTFTTRDPVPGDLAPSTSTTTHYIMTILGCLFGMVIVLGAVYYCLR
KRRMQEEKQKSVNVKKTILEMRYGADVDAGSIVHAAQKLGEPPVLPVSRMASIPSMIGEK
LPTAKGLEAGLDTPKVATKGNYIEVRTGAGGDGLARPEDDLPDLENGQGSAAEISTIAKE
VDKVNQIINNCIDALKLDSASFLGGGSSSGDPELAFECQSLPAAAAASSATGPGALERPS
FLSPPYKESSHHPLQRQLSADAAVTRKTCSVSSSGSIKSAKVFSLDVPDHPAATGLAKGD
SKYIEKGSPLNSPLDRLPLVPAGSGGGSGGGGGIHHLEVKPAYHCSEHRHSFPALYYEEG
ADSLSQRVSFLKPLTRSKRDSTYSQLSPRHYYSGYSSSPEYSSESTHKIWERFRPYKKHH
REEVYMAAGHALRKKVQFAKDEDLHDILDYWKGVSAQQKL
Sequence length 820
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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 ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Clear cell carcinoma of kidney Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LEPROSY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Astrocytoma Astrocytoma BEFREE 30037656
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma Pubtator 30037656 Associate
★☆☆☆☆
Found in Text Mining only
Glioblastoma Glioblastoma BEFREE 30037656
★☆☆☆☆
Found in Text Mining only
Glioblastoma Glioblastoma Pubtator 30037656 Associate
★☆☆☆☆
Found in Text Mining only
Glioblastoma Multiforme Glioblastoma BEFREE 30037656
★☆☆☆☆
Found in Text Mining only