Gene Gene information from NCBI Gene database.
Entrez ID 4010
Gene name LIM homeobox transcription factor 1 beta
Gene symbol LMX1B
Synonyms (NCBI Gene)
FSGS10LMX1.2NPS1
Chromosome 9
Chromosome location 9q33.3
Summary This gene encodes a member of LIM-homeodomain family of proteins containing two N-terminal zinc-binding LIM domains, 1 homeodomain, and a C-terminal glutamine-rich domain. It functions as a transcription factor, and is essential for the normal development
SNPs SNP information provided by dbSNP.
23
SNP ID Visualize variation Clinical significance Consequence
rs121909486 C>A,T Pathogenic Coding sequence variant, synonymous variant, missense variant
rs121909487 C>T Pathogenic Coding sequence variant, stop gained
rs121909488 G>T Pathogenic Coding sequence variant, missense variant
rs121909490 C>T Pathogenic Coding sequence variant, stop gained
rs121909491 G>A Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
703
miRTarBase ID miRNA Experiments Reference
MIRT656719 hsa-miR-4512 HITS-CLIP 23824327
MIRT656717 hsa-miR-3918 HITS-CLIP 23824327
MIRT656718 hsa-miR-1224-3p HITS-CLIP 23824327
MIRT656716 hsa-miR-6734-3p HITS-CLIP 23824327
MIRT656715 hsa-miR-4297 HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding ISS
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 IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602575 6654 ENSG00000136944
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O60663
Protein name LIM homeobox transcription factor 1-beta (LIM/homeobox protein 1.2) (LMX-1.2) (LIM/homeobox protein LMX1B)
Protein function Transcription factor involved in the regulation of podocyte-expressed genes (PubMed:24042019, PubMed:28059119). Essential for the specification of dorsal limb fate at both the zeugopodal and autopodal levels. {ECO:0000269|PubMed:24042019, ECO:00
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00412 LIM 56 111 LIM domain Domain
PF00412 LIM 115 173 LIM domain Domain
PF00046 Homeodomain 220 276 Homeodomain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in most tissues. Highest levels in testis, thyroid, duodenum, skeletal muscle, and pancreatic islets.
Sequence
MDIATGPESLERCFPRGQTDCAKMLDGIKMEEHALRPGPATLGVLLGSDCPHPAVCEGCQ
RPISDRFLMRVNESSWHEECLQCAACQQALTTSCYFRDRKLYCKQDYQQLF
AAKCSGCME
KIAPTEFVMRALECVYHLGCFCCCVCERQLRKGDEFVLKEGQLLCKGDYEKEK
DLLSSVS
PDESDSVKSEDEDGDMKPAKGQGSQSKGSGDDGKDPRRPKRPRTILTTQQRRAFKASFEV
SSKPCRKVRETLAAETGLSVRVVQVWFQNQRAKMKK
LARRHQQQQEQQNSQRLGQEVLSS
RMEGMMASYTPLAPPQQQIVAMEQSPYGSSDPFQQGLTPPQMPGDHMNPYGNDSIFHDID
SDTSLTSLSDCFLGSSDVGSLQARVGNPIDRLYSMQSSYFAS
Sequence length 402
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
425
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autosomal recessive Alport syndrome Likely pathogenic; Pathogenic rs121909490 RCV006449352
Inherited focal segmental glomerulosclerosis Pathogenic rs1191455921 RCV003994037
Lipoid nephrosis Likely pathogenic; Pathogenic rs1191455921 RCV002260131
LMX1B-related disorder Pathogenic; Likely pathogenic rs2490517671, rs121909491, rs2030200763, rs2490682185, rs2490687634, rs1835285052, rs1835287461, rs1835285480, rs2490689989, rs2490682241, rs1191455921 RCV003973630
RCV004748508
RCV003399638
RCV003416732
RCV003402815
RCV003421119
RCV004723374
RCV003919621
RCV003919785
RCV003904566
RCV003967191
RCV003915707
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Familial cancer of breast Benign rs2277158 RCV005892583
Focal segmental glomerulosclerosis Conflicting classifications of pathogenicity; Benign; Likely benign rs750526845, rs375657880, rs112171815, rs142488434 RCV002294502
RCV002294131
RCV002294132
RCV002294325
Kidney disorder Uncertain significance; Conflicting classifications of pathogenicity rs376497496, rs376229612 RCV002294493
RCV002294453
Malignant tumor of esophagus Benign rs35632228 RCV005900496
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Absent patella Associate 37930140
Anonychia onychodystrophy Associate 37930140
Autistic Disorder Associate 21901133
Bone Diseases Associate 26395556
Chorea Associate 32949189
Chromosome Disorders Associate 26395556
Clubfoot Associate 37930140
Esophageal Neoplasms Associate 31545286
Flatfoot Associate 35487415
Glaucoma Associate 16825280, 21850167, 28059119, 29452408, 29617998, 34440426, 37930140