Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4010
Gene name Gene Name - the full gene name approved by the HGNC.
LIM homeobox transcription factor 1 beta
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
LMX1B
Synonyms (NCBI Gene) Gene synonyms aliases
FSGS10, LMX1.2, NPS1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
FSGS10
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9q33.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 21873635
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 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602575 6654 ENSG00000136944
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Anonychia ANONYCHIA rs74315420, rs74315421, rs74315422, rs74315423, rs387907026, rs387907027, rs387907028, rs780261665, rs775644973, rs370554150
Arthritis Degenerative polyarthritis rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470
Breast carcinoma Breast Carcinoma rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451
View all (71 more)
29059683
Cataract Cataract rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322
View all (150 more)
Unknown
Disease term Disease name Evidence References Source
Behavior disorders Behavior Disorders 20199424 ClinVar
Ptosis Blepharoptosis, Ptosis ClinVar
Nail patella-like renal disease nail-patella-like renal disease GenCC
Breast cancer Breast cancer Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients GWAS, CBGDA
Associations from Text Mining
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