FRMD5 (FERM domain containing 5)

Gene Gene information from NCBI Gene database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID 84978
Gene name FERM domain containing 5
Gene symbol FRMD5
Synonyms (NCBI Gene)
NEDEMA
Chromosome 15
Chromosome location 15q15.3
miRNA miRNA information provided by mirtarbase database.
42
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT570696 hsa-miR-3936 PAR-CLIP 20371350
MIRT570695 hsa-miR-499b-5p PAR-CLIP 20371350
MIRT570694 hsa-miR-4305 PAR-CLIP 20371350
MIRT570693 hsa-miR-645 PAR-CLIP 20371350
MIRT570692 hsa-miR-517-5p PAR-CLIP 20371350
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
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Transcription factor Regulation Reference
TP53 Unknown 19139068
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0005178 Function Integrin binding IDA 25448675
GO:0005515 Function Protein binding IPI 22846708, 25448675
GO:0005856 Component Cytoskeleton IBA
GO:0005912 Component Adherens junction IDA 22846708
GO:0005912 Component Adherens junction IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
616309 28214 ENSG00000171877
Protein Protein information from UniProt database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q7Z6J6
Protein name FERM domain-containing protein 5
Protein function May be involved in regulation of cell migration (PubMed:22846708, PubMed:25448675). May regulate cell-matrix interactions via its interaction with ITGB5 and modifying ITGB5 cytoplasmic tail interactions such as with FERMT2 and TLN1. May regulate
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09379 FERM_N 21 → 84 FERM N-terminal domain Domain
PF00373 FERM_M 100 → 210 FERM central domain Domain
PF09380 FERM_C 214 → 302 FERM C-terminal PH-like domain Domain
PF08736 FA 309 → 352 FERM adjacent (FA) Family
Sequence 
MLSRLMSGSSRSLEREYSCTVRLLDDSEYTCTIQRDAKGQYLFDLLCHHLNLLEKDYFGI
RFVDPDKQRHWLEFTKSVVKQLRSQPPFTMCFRVKFYPADPAALKEEITRYLVFLQIKRD
LYHGRLLCKTSDAALLAAYILQAEIGDYDSGKHPEGYSSKFQFFPKHSEKLERKIAEIHK
TELSGQTPATSELNFLRKAQTLETYGVDPHPCKDVSGNAAFLAFTPFGFVVLQGNKRVHF
IKWNEVTKLKFEGKTFYLYVSQKEEKKIILTYFAPTPEACKHLWKCGIENQAFYKLEKSS
QVRTVSSSNLFFKGSRFRYSGRVAKEVMESSAKIKREPPEIHRAGMVPSRSCPSITHGPR
LSSVPRTRRRAVHISIMEGLESLRDSAHSTPVRSTSHGDTFLPHVRSSRTDSNERVAVIA
DEAYSPADSVLPTPVAEHSLELMLLSRQINGATCSIEEEKESEASTPTATEVEALGGELR
ALCQGHSGPEEEQVNKFVLSVLRLLLVTMGLLFVLLLLLIILTESDLDIAFFRDIRQTPE
FEQFHYQYFCPLRRWFACKIRSVVSLLIDT
Sequence length 570
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Neurodevelopmental disorder with eye movement abnormalities and ataxia Pathogenic; Likely pathogenic rs2508377588, rs751184580, rs2508377566 RCV002294748
RCV002294749
RCV003227553
Show/Hide Unknown Diseases (2)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Neurodevelopmental delay Uncertain significance rs1006096376 RCV002279919
See cases Uncertain significance; Conflicting classifications of pathogenicity rs2140355031, rs2140355019, rs2140355061 RCV002279916
RCV002279917
RCV002279918
Show/Hide Text Mining Associations (3)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Colorectal Neoplasms Associate 28117551
Neoplasms Associate 34201607
Thyroid Cancer Papillary Associate 34201607