RLIM (ring finger protein, LIM domain interacting)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
51132
Gene name Gene Name - the full gene name approved by the HGNC.
Ring finger protein, LIM domain interacting
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RLIM
Synonyms (NCBI Gene) Gene synonyms aliases
MRX61, NY-REN-43, RNF12, TOKAS
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xq13.2
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is a RING-H2 zinc finger protein. It has been shown to be an E3 ubiquitin protein ligase that targets LIM domain binding 1 (LDB1/CLIM), and causes proteasome-dependent degradation of LDB1. This protein and LDB1 are co-repr
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(9)
SNP ID Visualize variation Clinical significance Consequence
rs786205133 T>C Likely-pathogenic, pathogenic Missense variant, coding sequence variant
rs1569309449 G>A Pathogenic Coding sequence variant, missense variant
rs1569309459 G>A Pathogenic Coding sequence variant, missense variant
rs1569309460 C>T Pathogenic Coding sequence variant, missense variant
rs1569309474 G>C Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1640)
miRTarBase ID miRNA Experiments Reference
MIRT048396 hsa-miR-100-5p CLASH 23622248
MIRT047752 hsa-miR-10a-5p CLASH 23622248
MIRT046403 hsa-miR-15b-5p CLASH 23622248
MIRT044990 hsa-miR-186-5p CLASH 23622248
MIRT714107 hsa-miR-7849-3p HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(29)
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0003714 Function Transcription corepressor activity NAS 11013082
GO:0004842 Function Ubiquitin-protein transferase activity IDA 29742418, 33953269
GO:0004842 Function Ubiquitin-protein transferase activity IEA
GO:0004842 Function Ubiquitin-protein transferase activity ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
300379 13429 ENSG00000131263
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9NVW2
Protein name E3 ubiquitin-protein ligase RLIM (EC 2.3.2.27) (LIM domain-interacting RING finger protein) (RING finger LIM domain-binding protein) (R-LIM) (RING finger protein 12) (RING-type E3 ubiquitin transferase RLIM) (Renal carcinoma antigen NY-REN-43)
Protein function E3 ubiquitin-protein ligase. Acts as a negative coregulator for LIM homeodomain transcription factors by mediating the ubiquitination and subsequent degradation of LIM cofactors LDB1 and LDB2 and by mediating the recruitment the SIN3a/histone de
PDB 6W7Z , 6W9A , 6W9D
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13639 zf-RING_2 568 → 611 Ring finger domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in many tissues.
Sequence 
MENSDSNDKGSGDQSAAQRRSQMDRLDREEAFYQFVNNLSEEDYRLMRDNNLLGTPGEST
EEELLRRLQQIKEGPPPQNSDENRGGDSSDDVSNGDSIIDWLNSVRQTGNTTRSGQRGNQ
SWRAVSRTNPNSGDFRFSLEINVNRNNGSQNSENENEPSARRSSGENVENNSQRQVENPR
SESTSARPSRSERNSTEALTEVPPTRGQRRARSRSPDHRRTRARAERSRSPLHPMSEIPR
RSHHSISSQTFEHPLVNETEGSSRTRHHVTLRQQISGPELLSRGLFAASGTRNASQGAGS
SDTAASGESTGSGQRPPTIVLDLQVRRVRPGEYRQRDSIASRTRSRSQTPNNTVTYESER
GGFRRTFSRSERAGVRTYVSTIRIPIRRILNTGLSETTSVAIQTMLRQIMTGFGELSYFM
YSDSDSEPTGSVSNRNMERAESRSGRGGSGGGSSSGSSSSSSSSSSSSSSSSSSSSPSSS
SGGESSETSSDLFEGSNEGSSSSGSSGARREGRHRAPVTFDESGSLPFLSLAQFFLLNED
DDDQPRGLTKEQIDNLAMRSFGENDALKTCSVCITEYTEGNKLRKLPCSHEYHVHCIDRW
LSENSTCPICRRAVLASGNRESVV
Sequence length 624
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Antigen processing: Ubiquitination & Proteasome degradation
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Mental Retardation, X-Linked Intellectual disability, X-linked 61 rs1569309816, rs1569309449, rs1569309484, rs786205133, rs1569309474, rs1569309776, rs1569309459, rs1569309460 N/A
Developmental Delay global developmental delay rs786205133 N/A
Show/Hide Unknown Diseases (1)
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
Mental retardation syndromic intellectual disability, non-syndromic X-linked intellectual disability N/A N/A GenCC
Show/Hide Text Mining Associations (6)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 19117995
Carcinoma Hepatocellular Stimulate 37132043
Gaucher Disease Perinatal Lethal Associate 33953269
Hernia Diaphragmatic Associate 33953269
Intellectual Disability Associate 25735484, 33159883, 38199845
Prostatic Neoplasms Associate 30915735