RFX8 (regulatory factor X8)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 731220
Gene name Regulatory factor X8
Gene symbol RFX8
Synonyms (NCBI Gene)
-
Chromosome 2
Chromosome location 2q11.2
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
9
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (9)
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
GO:0003677 Function DNA binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6ZV50
Protein name DNA-binding protein RFX8 (Regulatory factor X 8)
Protein function May be a transcription factor.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02257 RFX_DNA_binding 19 → 97 RFX DNA-binding domain Domain
Sequence 
MAEGVPASPSSGEGSRGPHSGVIQWLVDNFCICEECSVPRCLMYEIYVETCGQNTENQVN
PATFGKLVRLVFPDLGTRRLGTRGSARYHYDGICIKKSSFFYAQYCYLIGEKRYHSGDAI
AFEKSTNYNSIIQQEATCEDHSPMKTDPVGSPLSEFRRCPFLEQEQAKKYSCNMMAFLAD
EYCNYCRDILRNVEDLLTSFWKSLQQDTVMLMSLPDVCQLFKCYDVQLYKGIEDVLLHDF
LEDVSIQYLKSVQLFSKKFKLWLLNALEGVPALLQISKLKEVTLFVKRLRRKTYLSNMAK
TMRMVLKSKRRVSVLKSDLQAIINQGTLATSKKALASDRSGADELENNPEMKCLRNLISL
LGTSTDLRVFLSCLSSHLQAFVFQTSRSKEEFTKLAASFQLRWNLLLTAVSKAMTLCHRD
SFGSWHLFHLLLLEYMIHILQSCLEEEEEEEDMGTVKEMLPDDPTLGQPDQALFHSLNSS
LSQACASPSMEPLGVMPTHMGQGRYPVGVSNMVLRILGFLVDTAMGNKLIQVLLEDETTE
SAVKLSLPMGQEALITLKDGQQFVIQISDVPQSSEDIYFRENNANV
Sequence length 586
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Gene Gene ontology Other IDs Protein Associated diseases
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)
Show/Hide Unknown Diseases (1)
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
CHRONIC RHINOSINUSITIS WITH NASAL POLYPS — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (2)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Chronic rhinosinusitis with nasal polyps Rhinosinusitis With Nasal Polyps GWASCAT_DG 29253858
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms Stomach neoplasms Pubtator 36045400 Stimulate
★★★★★
★☆☆☆☆
Found in Text Mining only