Gene Gene information from NCBI Gene database.
Entrez ID 55680
Gene name RUN and FYVE domain containing 2
Gene symbol RUFY2
Synonyms (NCBI Gene)
RABIP4RZFYVE13
Chromosome 10
Chromosome location 10q21.3
miRNA miRNA information provided by mirtarbase database.
373
miRTarBase ID miRNA Experiments Reference
MIRT017147 hsa-miR-335-5p Microarray 18185580
MIRT050604 hsa-miR-20a-5p CLASH 23622248
MIRT048254 hsa-miR-196a-5p CLASH 23622248
MIRT039337 hsa-miR-425-5p CLASH 23622248
MIRT699941 hsa-miR-4428 HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005634 Component Nucleus IEA
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IDA 11877430
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610328 19761 ENSG00000204130
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8WXA3
Protein name RUN and FYVE domain-containing protein 2 (Rab4-interacting protein related)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02759 RUN 45 168 RUN domain Family
PF01363 FYVE 535 599 FYVE zinc finger Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in brain, lung and testis. {ECO:0000269|PubMed:11877430}.
Sequence
MATKDPTAVERANLLNMAKLSIKGLIESALSFGRTLDSDYPPLQQFFVVMEHCLKHGLKV
RKSFLSYNKTIWGPLELVEKLYPEAEEIGASVRDLPGLKTPLGRARAWLRLALMQKKMAD
YLRCLIIQRDLLSEFYEYHALMMEEEGAVIVGLLVGLNVIDANLCVKG
EDLDSQVGVIDF
SMYLKNEEDIGNKERNVQIAAILDQKNYVEELNRQLNSTVSSLHSRVDSLEKSNTKLIEE
LAIAKNNIIKLQEENHQLRSENKLILMKTQQHLEVTKVDVETELQTYKHSRQGLDEMYNE
ARRQLRDESQLRQDVENELAVQVSMKHEIELAMKLLEKDIHEKQDTLIGLRQQLEEVKAI
NIEMYQKLQGSEDGLKEKNEIIARLEEKTNKITAAMRQLEQRLQQAEKAQMEAEDEDEKY
LQECLSKSDSLQKQISQKEKQLVQLETDLKIEKEWRQTLQEDLQKEKDALSHLRNETQQI
ISLKKEFLNLQDENQQLKKIYHEQEQALQELGNKLSESKLKIEDIKEANKALQGLVWLKD
KEATHCKLCEKEFSLSKRKHHCRNCGEIFCNACSDNELPLPSSPKPVRVCDSCHALLIQ
R
CSSNLP
Sequence length 606
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Endocytosis  
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
BRONCHIECTASIS 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
Glioblastoma Glioblastoma Pubtator 35429411 Associate
★☆☆☆☆
Found in Text Mining only
Papillary thyroid carcinoma Papillary thyroid carcinoma BEFREE 30466862
★☆☆☆☆
Found in Text Mining only