Details for: LMX1B

Gene ID: 4010

Symbol: LMX1B

Ensembl ID: ENSG00000136944

Description: LIM homeobox transcription factor 1 beta

Associated with

  • Chromatin
    (GO:0000785)
  • Dna-binding transcription factor activity
    (GO:0003700)
  • Dna-binding transcription factor activity, rna polymerase ii-specific
    (GO:0000981)
  • Dopaminergic neuron differentiation
    (GO:0071542)
  • Dorsal/ventral pattern formation
    (GO:0009953)
  • Metal ion binding
    (GO:0046872)
  • Neuron differentiation
    (GO:0030182)
  • Nucleus
    (GO:0005634)
  • Positive regulation of transcription by rna polymerase ii
    (GO:0045944)
  • Protein binding
    (GO:0005515)
  • Regulation of dna-templated transcription
    (GO:0006355)
  • Regulation of transcription by rna polymerase ii
    (GO:0006357)
  • Rna polymerase ii transcription regulatory region sequence-specific dna binding
    (GO:0000977)
  • Sequence-specific double-stranded dna binding
    (GO:1990837)

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: erythrocyte (CL0000232)
    Fold Change: 11.53
    Marker Score: 6389
  • Cell Name: ON-bipolar cell (CL0000749)
    Fold Change: 5.53
    Marker Score: 16123
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 4.95
    Marker Score: 2607
  • Cell Name: retina horizontal cell (CL0000745)
    Fold Change: 4.61
    Marker Score: 4421
  • Cell Name: OFF-bipolar cell (CL0000750)
    Fold Change: 3.59
    Marker Score: 10648
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: 3.03
    Marker Score: 8687
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: 2.73
    Marker Score: 23084
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 2.71
    Marker Score: 1579
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 2.53
    Marker Score: 1057
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 2.21
    Marker Score: 6298
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 2.17
    Marker Score: 1436
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.99
    Marker Score: 1986
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 1.78
    Marker Score: 3368.5
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.71
    Marker Score: 17607
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 1.69
    Marker Score: 3436
  • Cell Name: podocyte (CL0000653)
    Fold Change: 1.67
    Marker Score: 616
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 1.6
    Marker Score: 3521
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.6
    Marker Score: 1164
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.48
    Marker Score: 169969
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 1.26
    Marker Score: 759
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 1.25
    Marker Score: 849
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.23
    Marker Score: 19293
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 1.16
    Marker Score: 483
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.15
    Marker Score: 4803
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 1.09
    Marker Score: 499
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 1
    Marker Score: 6022
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71813
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48037
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30408
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.98
    Marker Score: 505
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.97
    Marker Score: 459
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2412
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.93
    Marker Score: 5327
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.93
    Marker Score: 371
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.92
    Marker Score: 2743
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.9
    Marker Score: 323
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5283
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1259
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.77
    Marker Score: 706
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.76
    Marker Score: 394
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.75
    Marker Score: 359
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.74
    Marker Score: 233
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.73
    Marker Score: 1826
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.71
    Marker Score: 457
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.68
    Marker Score: 299
  • Cell Name: epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.67
    Marker Score: 302
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.56
    Marker Score: 448
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 0.55
    Marker Score: 3639
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.55
    Marker Score: 173
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.53
    Marker Score: 299
  • Cell Name: plasma cell (CL0000786)
    Fold Change: 0.52
    Marker Score: 579
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.51
    Marker Score: 391
  • Cell Name: epithelial cell of glomerular capsule (CL1000450)
    Fold Change: 0.51
    Marker Score: 130.5
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.45
    Marker Score: 1018
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.44
    Marker Score: 219
  • Cell Name: Schwann cell (CL0002573)
    Fold Change: 0.43
    Marker Score: 150
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 0.4
    Marker Score: 189
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 0.37
    Marker Score: 4939
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 0.32
    Marker Score: 212
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.32
    Marker Score: 111
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.32
    Marker Score: 102
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 0.31
    Marker Score: 635
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 0.29
    Marker Score: 119
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.29
    Marker Score: 75
  • Cell Name: pericyte (CL0000669)
    Fold Change: 0.28
    Marker Score: 165.5
  • Cell Name: fast muscle cell (CL0000190)
    Fold Change: 0.28
    Marker Score: 84
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.27
    Marker Score: 237
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.27
    Marker Score: 429
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.26
    Marker Score: 154
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.25
    Marker Score: 248
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.24
    Marker Score: 74
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 0.23
    Marker Score: 834
  • Cell Name: retinal pigment epithelial cell (CL0002586)
    Fold Change: 0.23
    Marker Score: 69
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 0.23
    Marker Score: 405
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.23
    Marker Score: 65
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 0.23
    Marker Score: 110
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 0.22
    Marker Score: 71
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.22
    Marker Score: 75
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.22
    Marker Score: 80
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.22
    Marker Score: 127
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 0.2
    Marker Score: 193
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.19
    Marker Score: 449
  • Cell Name: B cell (CL0000236)
    Fold Change: 0.19
    Marker Score: 178
  • Cell Name: papillary tips cell (CL1000597)
    Fold Change: 0.18
    Marker Score: 37
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.18
    Marker Score: 164
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 0.18
    Marker Score: 428
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 0.18
    Marker Score: 329
  • Cell Name: contractile cell (CL0000183)
    Fold Change: 0.18
    Marker Score: 95
  • Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
    Fold Change: 0.17
    Marker Score: 38
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.17
    Marker Score: 43
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 0.17
    Marker Score: 359
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.17
    Marker Score: 49
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.16
    Marker Score: 675
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.16
    Marker Score: 105
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.16
    Marker Score: 36
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 0.15
    Marker Score: 189
  • Cell Name: myoepithelial cell of mammary gland (CL0002324)
    Fold Change: 0.15
    Marker Score: 733
  • Cell Name: interneuron (CL0000099)
    Fold Change: 0.15
    Marker Score: 68
  • Cell Name: M cell of gut (CL0000682)
    Fold Change: 0.15
    Marker Score: 38
  • Cell Name: adipocyte of epicardial fat of left ventricle (CL1000311)
    Fold Change: 0.14
    Marker Score: 38

Hover over a box to see details here...

Hover over a box to see details here...

Hover over a box to see details here...

Other Information

**Key characteristics:** * LMX1B is a member of the LIM homeobox family of transcription factors. * It is characterized by a conserved LIM domain and a C2H2H2 domain. * It is a key transcription factor for the development and maintenance of neural and retinal tissues. **Pathways and functions:** * LMX1B is involved in chromatin remodeling and DNA-binding activity. * It is a key regulator of dopaminergic neuron differentiation. * It is also involved in the regulation of rna polymerase ii-mediated transcription. * It plays a role in the formation of the dorsal/ventral neural tube. * It is involved in the regulation of gene expression in response to various stimuli. **Clinical significance:** * Mutations in the LMX1B gene have been linked to a number of human diseases, including retinal degenerative diseases, cancer, and neurodegenerative disorders. * LMX1B is a promising target for the treatment of these diseases. * Inhibitors of LMX1B have been shown to be effective in correcting the symptoms of retinal degenerative diseases. **Additional information:** * The LMX1B gene is located on chromosome 17q21.1. * It is a ubiquitin-dependent protein that is regulated by the MAPK signaling pathway. * It is a highly conserved protein that is found in vertebrates.

Genular Protein ID: 19951875

Symbol: LMX1B_HUMAN

Name: LIM homeobox transcription factor 1-beta

UniProtKB Accession Codes:

O60663 F8W7W6 O75463 Q5JU95 Q6ISC9

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 CDD 3 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 11 Ensembl 3 GO 13 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PRO 1 PROSITE 4 PROSITE-ProRule 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 Proteomes 1 ProteomicsDB 3 Pumba 1 RNAct 1 RefSeq 2 SAM 1 SIGNOR 1 SMART 2 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 9618165

Title: Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome.

PubMed ID: 9618165

DOI: 10.1093/hmg/7.7.1091

PubMed ID: 15164053

Title: DNA sequence and analysis of human chromosome 9.

PubMed ID: 15164053

DOI: 10.1038/nature02465

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 9590287

Title: Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome.

PubMed ID: 9590287

DOI: 10.1038/ng0598-47

PubMed ID: 23308148

Title: LMX1B is part of a transcriptional complex with PSPC1 and PSF.

PubMed ID: 23308148

DOI: 10.1371/journal.pone.0053122

PubMed ID: 9837817

Title: Mutation analysis of LMX1B gene in nail-patella syndrome patients.

PubMed ID: 9837817

DOI: 10.1086/302165

PubMed ID: 10571942

Title: Restricted distribution of loss-of-function mutations within the LMX1B genes of nail-patella syndrome patients.

PubMed ID: 10571942

DOI: 10.1002/(sici)1098-1004(199912)14:6<459::aid-humu3>3.0.co;2-9

PubMed ID: 11668639

Title: Twenty-two novel LMX1B mutations identified in nail patella syndrome (NPS) patients.

PubMed ID: 11668639

DOI: 10.1002/humu.1217.abs

PubMed ID: 23687361

Title: LMX1B mutations cause hereditary FSGS without extrarenal involvement.

PubMed ID: 23687361

DOI: 10.1681/asn.2013020171

PubMed ID: 24042019

Title: LMX1B mutation with residual transcriptional activity as a cause of isolated glomerulopathy.

PubMed ID: 24042019

DOI: 10.1093/ndt/gft359

PubMed ID: 26560070

Title: Clinical and histological findings of autosomal dominant renal-limited disease with LMX1B mutation.

PubMed ID: 26560070

DOI: 10.1111/nep.12666

PubMed ID: 28059119

Title: Dysregulation of WTI (-KTS) is associated with the kidney-specific effects of the LMX1B R246Q mutation.

PubMed ID: 28059119

DOI: 10.1038/srep39933

PubMed ID: 32791958

Title: Nail-patella-like renal disease masquerading as Fabry disease on kidney biopsy: a case report.

PubMed ID: 32791958

DOI: 10.1186/s12882-020-02012-3

PubMed ID: 32356190

Title: Myelin bodies in LMX1B-associated nephropathy: potential for misdiagnosis.

PubMed ID: 32356190

DOI: 10.1007/s00467-020-04564-w

Sequence Information:

  • Length: 402
  • Mass: 44917
  • Checksum: E59FC36C39C7C9A3
  • Sequence:
    • MDIATGPESL ERCFPRGQTD CAKMLDGIKM EEHALRPGPA TLGVLLGSDC PHPAVCEGCQ 
RPISDRFLMR VNESSWHEEC LQCAACQQAL TTSCYFRDRK LYCKQDYQQL FAAKCSGCME 
KIAPTEFVMR ALECVYHLGC FCCCVCERQL RKGDEFVLKE GQLLCKGDYE KEKDLLSSVS 
PDESDSVKSE DEDGDMKPAK GQGSQSKGSG DDGKDPRRPK RPRTILTTQQ RRAFKASFEV 
SSKPCRKVRE TLAAETGLSV RVVQVWFQNQ RAKMKKLARR HQQQQEQQNS QRLGQEVLSS 
RMEGMMASYT PLAPPQQQIV AMEQSPYGSS DPFQQGLTPP QMPGDHMNPY GNDSIFHDID 
SDTSLTSLSD CFLGSSDVGS LQARVGNPID RLYSMQSSYF AS

Genular Protein ID: 3942536012

Symbol: B7ZLH2_HUMAN

Name: N/A

UniProtKB Accession Codes:

B7ZLH2

Database IDs:

ARBA 10 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 3 CTD 1 ChiTaRS 1 DNASU 1 EMBL 2 GO 4 Gene3D 2 GenomeRNAi 1 HOGENOM 1 InterPro 4 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 6 PROSITE-ProRule 2 PeptideAtlas 1 Pfam 2 PharmGKB 1 ProteomicsDB 1 RefSeq 1 RuleBase 1 SAM 1 SMART 2 SMR 1 SUPFAM 2 UCSC 1

Citations:

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

Sequence Information:

  • Length: 383
  • Mass: 42572
  • Checksum: 28C51599518CF4FC
  • Sequence:
    • MLDGIKMEEH ALRPGPATLG VLLGSDCPHP AVCEGCQRPI SDRFLMRVNE SSWHEECLQC 
AACQQALTTS CYFRDRKLYC KQDYQQLFAA KCSGCMEKIA PTEFVMRALE CVYHLGCFCC 
CVCERQLRKG DEFVLKEGQL LCKGDYEKEK DLLSSVSPDE SDSVKSEDED GDMKPAKGQG 
SQSKGSGDDG KDPRRPKRPR TILTTQQRRA FKASFEVSSK PCRKVRETLA AETGLSVRVV 
QVWFQNQRAK MKKLARRHQQ QQEQQNSQRL GQGEPGPGQG LGQEVLSSRM EGMMASYTPL 
APPQQQIVAM EQSPYGSSDP FQQGLTPPQM PGNDSIFHDI DSDTSLTSLS DCFLGSSDVG 
SLQARVGNPI DRLYSMQSSY FAS

Genular Protein ID: 1744571347

Symbol: Q6ISE0_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q6ISE0

Database IDs:

ARBA 10 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 3 CTD 1 ChiTaRS 1 DNASU 1 EMBL 2 GO 4 Gene3D 2 Genevisible 1 GenomeRNAi 1 InterPro 4 KEGG 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 6 PROSITE-ProRule 2 PeptideAtlas 1 Pfam 2 PharmGKB 1 RefSeq 1 RuleBase 1 SAM 1 SMART 2 SUPFAM 2

Citations:

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

Sequence Information:

  • Length: 377
  • Mass: 42165
  • Checksum: 342C0EAD3206548A
  • Sequence:
    • DGIKMEEHAL RPGPATLGVL LGSDCPHPAV CEGCQRPISD RFLMRVNESS WHEECLQCAA 
CQQALTTSCY FRDRKLYCKQ DYQQLFAAKC SGCMEKIAPT EFVMRALECV YHLGCFCCCV 
CERQLRKGDE FVLKEGQLLC KGDYEKEKDL LSSVSPDESD SVKSEDEDGD MKPAKGQGSQ 
SKGSGDDGKD PRRPKRPRTI LTTQQRRAFK ASFEVSSKPC RKVRETLAAE TGLSVRVVQV 
WFQNQRAKMK KLARRHQQQQ EQQNSQRLGQ EVLSSRMEGM MASYTPLAPP QQQIVAMEQS 
PYGSSDPFQQ GLTPPQMPGD HMNPYGNDSI FHDIDSDTSL TSLSDCFLGS SDVGSLQARV 
GNPIDRLYSM QSSYFAS

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.