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LMX1B

From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
LMX1B
Identifiers
AliasesLMX1B, LMX1.2, NPS1, LIM homeobox transcription factor 1 beta, FSGS10
External IDsOMIM:602575;MGI:1100513;HomoloGene:55648;GeneCards:LMX1B;OMA:LMX1B - orthologs
Gene location (Human)
Chromosome 9 (human)
Chr.Chromosome 9 (human)[1]
Chromosome 9 (human)
Genomic location for LMX1B
Genomic location for LMX1B
Band9q33.3Start126,613,928bp[1]
End126,701,032bp[1]
Gene location (Mouse)
Chromosome 2 (mouse)
Chr.Chromosome 2 (mouse)[2]
Chromosome 2 (mouse)
Genomic location for LMX1B
Genomic location for LMX1B
Band2 B|2 22.48 cMStart33,450,977bp[2]
End33,530,620bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • sural nerve

  • testicle

  • gonad

  • skin of leg

  • right auricle of heart

  • human kidney

  • skin of abdomen

  • apex of heart

  • olfactory zone of nasal mucosa

  • substantia nigra
Top expressed in
  • lumbar subsegment of spinal cord

  • hand

  • central gray substance of midbrain

  • lacrimal gland

  • genital tubercle

  • foot

  • digit

  • renal corpuscle

  • finger

  • surface ectoderm
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo /QuickGO
Orthologs
SpeciesHumanMouse
Entrez

4010

16917

Ensembl

ENSG00000136944

ENSMUSG00000038765

UniProt

O60663

O88609

RefSeq (mRNA)

NM_002316
NM_001174146
NM_001174147

NM_010725

RefSeq (protein)

NP_001167617
NP_001167618
NP_002307

NP_034855

Location (UCSC)Chr 9: 126.61 – 126.7 MbChr 2: 33.45 – 33.53 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

LIM homeobox transcription factor 1-beta, also known asLMX1B, is aprotein which in humans is encoded by theLMX1Bgene.[5][6]

Function

[edit]

LMX1B is aLIMhomeoboxtranscription factor which plays a central role indorso-ventral patterning of the vertebrate limb.[7]

Clinical significance

[edit]

Loss-of-function mutations in theLMX1B gene are associated withNail-patella syndrome.[8]

References

[edit]
  1. ^abcGRCh38: Ensembl release 89: ENSG00000136944Ensembl, May 2017
  2. ^abcGRCm38: Ensembl release 89: ENSMUSG00000038765Ensembl, May 2017
  3. ^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^"Entrez Gene: LMX1B LIM homeobox transcription factor 1, beta".
  6. ^Iannotti CA, Inoue H, Bernal E, Aoki M, Liu L, Donis-Keller H, German MS, Permutt MA (December 1997). "Identification of a human LMX1 (LMX1.1)-related gene, LMX1.2: tissue-specific expression and linkage mapping on chromosome 9".Genomics.46 (3):520–4.doi:10.1006/geno.1997.5075.PMID 9441763.
  7. ^Schweizer H, Johnson RL, Brand-Saberi B (April 2004). "Characterization of migration behavior of myogenic precursor cells in the limb bud with respect to Lmx1b expression".Anat. Embryol.208 (1):7–18.doi:10.1007/s00429-003-0373-y.PMID 15007643.S2CID 24982408.
  8. ^Dreyer SD, Zhou G, Baldini A, Winterpacht A, Zabel B, Cole W, Johnson RL, Lee B (May 1998). "Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome".Nat. Genet.19 (1):47–50.doi:10.1038/ng0598-47.PMID 9590287.S2CID 2329971.

Further reading

[edit]

External links

[edit]
(1) Basic domains
(1.1) Basicleucine zipper (bZIP)
(1.2) Basic helix-loop-helix (bHLH)
Group A
Group B
Group C
bHLH-PAS
Group D
Group E
Group F
bHLH-COE
(1.3)bHLH-ZIP
(1.4) NF-1
(1.5) RF-X
(1.6) Basic helix-span-helix (bHSH)
(2)Zinc finger DNA-binding domains
(2.1)Nuclear receptor(Cys4)
subfamily 1
subfamily 2
subfamily 3
subfamily 4
subfamily 5
subfamily 6
subfamily 0
(2.2) Other Cys4
(2.3) Cys2His2
(2.4) Cys6
(2.5) Alternating composition
(2.6) WRKY
(3.1)Homeodomain
Antennapedia
ANTP class
protoHOX
Hox-like
metaHOX
NK-like
other
(3.2) Paired box
(3.3)Fork head /winged helix
(3.4)Heat shock factors
(3.5) Tryptophan clusters
(3.6) TEA domain
  • transcriptional enhancer factor
(4)β-Scaffold factors with minor groove contacts
(4.1)Rel homology region
(4.2)STAT
(4.3) p53-like
(4.4)MADS box
(4.6)TATA-binding proteins
(4.7)High-mobility group
(4.9) Grainyhead
(4.10) Cold-shock domain
(4.11) Runt
(0) Other transcription factors
(0.2) HMGI(Y)
(0.3)Pocket domain
(0.5)AP-2/EREBP-related factors
(0.6) Miscellaneous


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