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Gene Gene information from NCBI Gene database.
Entrez ID 57669
Gene name Erythrocyte membrane protein band 4.1 like 5
Gene symbol EPB41L5
Synonyms (NCBI Gene)
BE37LULULULU1YMO1YRT
Chromosome 2
Chromosome location 2q14.2
miRNA miRNA information provided by mirtarbase database.
175 Show/Hide all (175)
miRTarBase ID miRNA Experiments Reference
MIRT022151 hsa-miR-124-3p Microarray 18668037
MIRT050911 hsa-miR-17-5p CLASH 23622248
MIRT965818 hsa-miR-1193 CLIP-seq
MIRT965819 hsa-miR-125a-3p CLIP-seq
MIRT965820 hsa-miR-1275 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
46 Show/Hide all (46)
GO ID Ontology Definition Evidence Reference
GO:0000902 Process Cell morphogenesis IEA
GO:0001701 Process In utero embryonic development IEA
GO:0001756 Process Somitogenesis IEA
GO:0001837 Process Epithelial to mesenchymal transition IEA
GO:0001839 Process Neural plate morphogenesis IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611730 19819 ENSG00000115109
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9HCM4
Protein name Band 4.1-like protein 5 (Erythrocyte membrane protein band 4.1-like 5)
Protein function Plays a role in the formation and organization of tight junctions during the establishment of polarity in epithelial cells.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00373 FERM_M 126 → 235 FERM central domain Domain
PF08736 FA 337 → 378 FERM adjacent (FA) Family
PF09379 FERM_N 47 → 109 FERM N-terminal domain Domain
PF09380 FERM_C 239 → 331 FERM C-terminal PH-like domain Domain
Sequence
MLSFFRRTLGRRSMRKHAEKERLREAQRAATHIPAAGDSKSIITCRVSLLDGTDVSVDLP
KKAKGQELFDQIMYHLDLIESDYFGLRFMDSAQVAHWLDGTKSIKKQVK
IGSPYCLHLRV
KFYSSEPNNLREELTRYLFVLQLKQDILSGKLDCPFDTAVQLAAYNLQAELGDYDLAEHS
PELVSEFRFVPIQTEEMELAIFEKWKEYRGQTPAQAETNYLNKAKWLEMYGVDMH
VVKAR
DGNDYSLGLTPTGVLVFEGDTKIGLFFWPKITRLDFKKNKLTLVVVEDDDQGKEQEHTFV
FRLDHPKACKHLWKCAVEHHAFFRLRGPVQK
SSHRSGFIRLGSRFRYSGKTEYQTTKTNK
ARRSTSFERRPSKRYSRR
TLQMKACATKPEELSVHNNVSTQSNGSQQAWGMRSALPVSPS
ISSAPVPVEIENLPQSPGTDQHDRKCIPLNIDLLNSPDLLEATIGDVIGASDTMETSQAL
NDVNVATRLPGLGEPEVEYETLKDTSEKLKQLEMENSPLLSPRSNIDVNINSQEEVVKLT
EKCLNNVIESPGLNVMRVPPDFKSNILKAQVEAVHKVTKEDSLLSHKNANVQDAATNSAV
LNENNVPLPKESLETLMLITPADSGSVLKEATDELDALLASLTENLIDHTVAPQVSSTSM
ITPRWIVPQSGAMSNGLAGCEMLLTGKEGHGNKDGISLISPPAPFLVDAVTSSGPILAEE
AVLKQKCLLTTEL
Sequence length 733
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Reactome Pathway
Neurexins and neuroligins
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
14
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.
Show/Hide Unknown Diseases (14)
Phenotype Name Clinical Significance Source Reference Evidence Score
Acute myeloid leukemia Benign; Likely benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign; Likely benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Benign; Likely benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma Benign; Likely benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Gastric cancer Benign; Likely benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (14)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Breast Carcinoma Breast Carcinoma BEFREE 30814110
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 31905344 Inhibit
★★★★★
★☆☆☆☆
Found in Text Mining only
Glioblastoma Glioblastoma Pubtator 31905344 Inhibit
★★★★★
★☆☆☆☆
Found in Text Mining only
Glioblastoma Glioblastoma Pubtator 36596853 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Kidney Diseases Kidney Disease BEFREE 28536193
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer BEFREE 30814110
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of kidney Kidney Cancer BEFREE 27871329
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of stomach Stomach Neoplasms BEFREE 30814110
★★★★★
★☆☆☆☆
Found in Text Mining only
Neuroendocrine Tumors Neuroendocrine Tumors BEFREE 31467225
★★★★★
★☆☆☆☆
Found in Text Mining only
Renal carcinoma Renal Carcinoma BEFREE 27871329
★★★★★
★☆☆☆☆
Found in Text Mining only