Gene Gene information from NCBI Gene database.
Entrez ID 84298
Gene name LLP homolog, long-term synaptic facilitation factor
Gene symbol LLPH
Synonyms (NCBI Gene)
C12orf31hLLP
Chromosome 12
Chromosome location 12q14.3
miRNA miRNA information provided by mirtarbase database.
402
miRTarBase ID miRNA Experiments Reference
MIRT023139 hsa-miR-124-3p Proteomics;Microarray 18668037
MIRT025529 hsa-miR-34a-5p Sequencing 20371350
MIRT032394 hsa-let-7b-5p Proteomics 18668040
MIRT047959 hsa-miR-30c-5p CLASH 23622248
MIRT714871 hsa-miR-2681-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
GO ID Ontology Definition Evidence Reference
GO:0001099 Function Basal RNA polymerase II transcription machinery binding IBA
GO:0001099 Function Basal RNA polymerase II transcription machinery binding IEA
GO:0001099 Function Basal RNA polymerase II transcription machinery binding ISS
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0005515 Function Protein binding IPI 32296183
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616998 28229 ENSG00000139233
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BRT6
Protein name Protein LLP homolog (Protein LAPS18-like)
Protein function In hippocampal neurons, regulates dendritic and spine growth and synaptic transmission.
PDB 6LSS , 6LU8 , 8FKT , 8FKU , 8FKV , 8FKW , 8FKX , 8FKY , 8FKZ , 8FL0 , 8FL2 , 8FL3 , 8FL4 , 8FL6 , 8FL7 , 8FL9 , 8FLA , 8FLB , 8FLC , 8FLD , 8FLE , 8FLF , 8IDT , 8IDY , 8IE3 , 8INE , 8INF , 8INK , 8IPD , 8IPX , 8IPY , 8IR1 , 8IR3 , 8RL2
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10169 Laps 3 120 Learning-associated protein Family
Sequence
Sequence length 129
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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
DEMENTIA 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
Glycogen Storage Disease Type II Glycogen storage disease Pubtator 8182131 Associate
★☆☆☆☆
Found in Text Mining only
Hashimoto Disease Hashimoto disease Pubtator 34493981 Associate
★☆☆☆☆
Found in Text Mining only