Gene Gene information from NCBI Gene database.
Entrez ID 64864
Gene name Regulatory factor X7
Gene symbol RFX7
Synonyms (NCBI Gene)
MRD71RFXDC2
Chromosome 15
Chromosome location 15q21.3
Summary 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.
361
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612660 25777 ENSG00000181827
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
17
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities Likely pathogenic; Pathogenic rs2504987146, rs2504987137, rs2504987254, rs750801787, rs749745135 RCV003223346
RCV003223354
RCV003223379
RCV003223380
RCV004820946
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RFX7-related disorder Likely pathogenic rs2504989200 RCV003412317
★★★★☆
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
CHRONIC LYMPHOCYTIC LEUKEMIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER ClinGen, GenCC
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Lung cancer Likely benign ClinVar
★★☆☆☆
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
Alzheimer Disease Alzheimer disease Pubtator 28539126 Associate
★☆☆☆☆
Found in Text Mining only
Attention Deficit Disorder with Hyperactivity Attention deficit hyperactivity disorder Pubtator 33658631 Associate
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorder Autism Pubtator 33658631 Associate
★☆☆☆☆
Found in Text Mining only
B-Cell Lymphomas B-Cell Lymphoma BEFREE 30926791
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 20946665 Associate
★☆☆☆☆
Found in Text Mining only
Chronic Lymphocytic Leukemia Lymphocytic Leukemia GWASCAT_DG 24292274
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Chronic Lymphocytic Leukemia Lymphocytic Leukemia GWASDB_DG 24292274
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus BEFREE 29717269
★☆☆☆☆
Found in Text Mining only
Intellectual Disability Intellectual developmental disorder Pubtator 33658631 Associate
★☆☆☆☆
Found in Text Mining only
Miller-McKusick-Malvaux-Syndrome (3M Syndrome) 3M Syndrome BEFREE 25752541
★☆☆☆☆
Found in Text Mining only