Gene table of EPB41L1 : erythrocyte membrane protein band 4.1 like 1

Gene-disease associations table

Disease IDDisease nameSource of annotation with EPB41L1OMIM linkNumber of associated genesgenes
PS156200MENTAL RETARDATION, AUTOSOMAL DOMINANTClinVar, OMIM, HUMSAVAR link to OMIM 44EHMT1, KANSL1, AHDC1, SOX11, CDH15, KIRREL3, EEF1A2, KAT6A, ZMYND11, ARID1A, KMT2C, PPP2R5D, DYNC1H1, GRIN1, CTCF, SETD5, AUTS2, PACS1, DPP6, MBD5, DEAF1, KIF1A, SYNGAP1, PURA, POGZ, EPB41L1, PPP2R1A, NR1I3, CTNNB1, ARID1B, MYT1L, CACNG2, COL4A3BP, SMARCB1, MEF2C, SMARCE1, SMARCA4, ZBTB18, ADNP, GATAD2B, SETBP1, GRIN2B, CHAMP1, DYRK1A

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Annotation of the gene EPB41L1

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Tight junctionhsa045305.53
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Neuronal SystemR-HSA-1123164.82
Glutamate Binding, Activation of AMPA Receptors and Synaptic PlasticityR-HSA-3997218.08
Trafficking of AMPA receptorsR-HSA-3997198.08
Transmission across Chemical SynapsesR-HSA-1123155.28
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic CellR-HSA-1123145.85
Associated GO terms for Molecular function
GO termGO IDGO IC
actin bindingGO:00037793.74
structural molecule activityGO:00051983.1
bindingGO:00054880.18
protein bindingGO:00055150.46
cytoskeletal protein bindingGO:00080923.02