Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
64864
Gene name Gene Name - the full gene name approved by the HGNC.
Regulatory factor X7
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RFX7
Synonyms (NCBI Gene) Gene synonyms aliases
MRD71, RFXDC2
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q21.3
Summary Summary of gene provided in NCBI Entrez Gene.
RFX7 is a member of the regulatory factor X (RFX) family of transcription factors (see RFX1, MIM 600006) (Aftab et al., 2008 [PubMed 18673564]).[supplied by OMIM, Mar 2009]
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT023454 hsa-miR-30b-5p Sequencing 20371350
MIRT029828 hsa-miR-26b-5p Microarray 19088304
MIRT044661 hsa-miR-320a CLASH 23622248
MIRT534723 hsa-miR-130a-3p PAR-CLIP 22012620
MIRT534722 hsa-miR-130b-3p PAR-CLIP 22012620
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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:0000979 Function RNA polymerase II core promoter sequence-specific DNA binding IDA 29967452
GO:0000979 Function RNA polymerase II core promoter sequence-specific DNA binding IEA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
612660 25777 ENSG00000181827
Protein
UniProt ID Q2KHR2
Protein name DNA-binding protein RFX7 (Regulatory factor X 7) (Regulatory factor X domain-containing protein 2)
Protein function Transcription factor (PubMed:29967452). Acts as a transcriptional activator by binding to promoter regions of target genes, such as PDCD4, PIK3IP1, MXD4, PNRC1, and RFX5 (PubMed:29967452, PubMed:34197623). Plays a role in natural killer (NK) cel
PDB 4QQI , 6MEW
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02257 RFX_DNA_binding 8 86 RFX DNA-binding domain Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed in many different tissue types including thymus and placenta, with high expression in brain (PubMed:18673564). Expressed in both inhibitory and excitatory neurons in cortex (PubMed:33658631). {ECO:0000269|PubMed:186735
Sequence
MSSSRAQQMHAFSWIRNTLEEHPETSLPKQEVYDEYKSYCDNLGYHPLSAADFGKIMKNV
FPNMKARRLGTRGKSKYCYSGLRKKA
FVHMPTLPNLDFHKTGDGLEGAEPSGQLQNIDEE
VISSACRLVCEWAQKVLSQPFDTVLELARFLVKSHYIGTKSMAALTVMAAAPAGMKGITQ
PSAFIPTAESNSFQPQVKTLPSPIDAKQQLQRKIQKKQQEQKLQSPLPGESAAKKSESAT
SNGVTNLPNGNPSILSPQPIGIVVAAVPSPIPVQRTRQLVTSPSPMSSSDGKVLPLNVQV
VTQHMQSVKQAPKTPQNVPASPGGDRSARHRYPQILPKPANTSALTIRSPTTVLFTSSPI
KTAVVPASHMSSLNVVKMTTISLTPSNSNTPLKHSASVSSATGTTEESRSVPQIKNGSVV
SLQSPGSRSSSAGGTSAVEVKVEPETSSDEHPVQCQENSDEAKAPQTPSALLGQKSNTDG
ALQKPSNEGVIEIKATKVCDQRTKCKSRCNEMLPGTSTGNNQSTITLSVASQNLTFTSSS
SPPNGDSINKDPKLCTKSPRKRLSSTLQETQVPPVKKPIVEQLSAATIEGQKQGSVKKDQ
KVPHSGKTEGSTAGAQIPSKVSVNVSSHIGANQPLNSSALVISDSALEQQTTPSSSPDIK
VKLEGSVFLLDSDSKSVGSFNPNGWQQITKDSEFISASCEQQQDISVMTIPEHSDINDLE
KSVWELEGMPQDTYSQQLHSQIQESSLNQIQAHSSDQLPLQSELKEFEPSVSQTNESYFP
FDDELTQDSIVEELVLMEQQMSMNNSHSYGNCLGMTLQSQSVTPGAPMSSHTSSTHFYHP
IHSNGTPIHTPTPTPTPTPTPTPTPTPTSEMIAGSQSLSRESPCSRLAQTTPVDSALGSS
RHTPIGTPHSNCSSSVPPSPVECRNPFAFTPISSSMAYHDASIVSSSPVKPMQRPMATHP
DKTKLEWMNNGYSGVGNSSVSGHGILPSYQELVEDRFRKPHAFAVPGQSYQSQSRHHDTH
FGRLTPVSPVQHQGATVNNTNKQEGFAVPAPLDNKGTNSSASSNFRCRSVSPAVHRQRNL
SGSTLYPVSNIPRSNVTPFGSPVTPEVHVFTNVHTDACANNIAQRSQSVPLTVMMQTAFP
NALQKQANSKKITNVLLSKLDSDNDDAVRGLGMNNLPSNYTARMNLTQILEPSTVFPSAN
PQNMIDSSTSVYEFQTPSYLTKSNSTGQINFSPGDNQAQSEIGEQQLDFNSTVKDLLSGD
SLQTNQQLVGQGASDLTNTASDFSSDIRLSSELSGSINDLNTLDPNLLFDPGRQQGQDDE
ATLEELKNDPLFQQICSESMNSMTSSGFEWIESKDHPTVEMLG
Sequence length 1363
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Lung adenocarcinoma Lung adenocarcinoma N/A N/A GWAS
Lymphocytic Leukemia Chronic lymphocytic leukemia N/A N/A GWAS
Microcephaly microcephaly N/A N/A ClinVar
Prostate cancer Prostate cancer N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 28539126
Attention Deficit Disorder with Hyperactivity Associate 33658631
Autism Spectrum Disorder Associate 33658631
Breast Neoplasms Associate 20946665
Disease Associate 33658631
Intellectual Disability Associate 33658631
Sleep Wake Disorders Associate 33658631
Stomach Neoplasms Associate 36045400