Lum MGI Mouse Gene Detail - MGI:109347

Lum Gene Detail

Symbol

Lum
Name

lumican
Synonyms

Ldc, SLRR2D

Feature Type

protein coding gene
IDs

MGI:109347
NCBI Gene: 17022
Gene Overview

MyGene.info: LUM

Sequence Map

Chr10:97565501-97572703 bp, + strand
From NCBI annotation of GRCm38

Mouse Genome Browser
Download
Sequence

7203 bp ± kb flank
Genome Browsers

VEGA | Ensembl | UCSC | NCBI

Genetic Map

Chromosome 10, 50.32 cM
Mapping Data

7 experiments

Human Ortholog

LUM, lumican

Vertebrate Orthologs

10

Human Ortholog

LUM, lumican
Orthology source: HomoloGene, HGNC
Synonyms

LDC, SLRR2D
Links

HGNC:6724

NCBI Gene ID: 4060

neXtProt AC: NX_P51884
Chr Location

12q21.33; chr12:91103455-91111765 (-) GRCh38.p2

HomoloGene

Vertebrate Homology Class 37614
1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed
HCOP

human homology predictions: LUM
Protein SuperFamily

class II small leucine-rich proteoglycan
Gene Tree

Lum

Diseases

1 with Lum mouse models

Human Disease

Mouse Models

Ehlers-Danlos Syndrome, Classic Type OMIM: 130000

View 2 models

Click on a disease name to see all genes associated with that disease.

Mutations/Alleles

1 with disease annotations

References

2 with disease annotations

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Phenotype Summary

29 phenotypes from 2 alleles in 3 genetic backgrounds
23 phenotypes from multigenic genotypes
3 images
36 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

5
Chemically induced (other)

1
Targeted

4
Genomic Mutations

1 involving Lum
Incidental Mutations

Mutagenetix , APF , CvDC

Mice homozygous for targeted disruptions of this gene have abnormally large and aberrantly contoured collagen fibrils forming a disorganized matrix in the tendon, skin, cornea and sclera, with consequent reductions in skin tensile strength and corneal clarity.

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All GO Annotations

14
GO References

8

External Resources

FuncBase

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	receptor	receptor binding	RNA binding	transcription	transferase	transporter

Biological Process

nucleic acid-templated transcription	carbohydrate derivative metabolism	cell death	cell differentiation	cell proliferation	cellular component organization	establishment of localization	homeostatic process	immune system process	lipid metabolic process	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	non-membrane-bounded organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

261
Tissues

37
cDNA Data

117
Literature Summary

21

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO
Other Vertebrate Links

Xenbase lum

ZFIN lum

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Lum interacts with 126 markers (Mir1a-1, Mir1a-2, Mir1b, ...) View All

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All Sequences

16
RefSeq

2
UniProt

1
CCDS

CCDS24142.1
UniGene

18888

Ensembl

ENSMUSG00000036446 (Evidence)
NCBI Gene

17022

			Length	Strain/Species	Flank
genomic	17022	NCBI Gene Model \| MGI Sequence Detail	7203	C57BL/6J	± kb
transcript	NM_008524	RefSeq \| MGI Sequence Detail	2075	C57BL/6
polypeptide	P51885	UniProt \| EBI \| MGI Sequence Detail	338	Not Applicable

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SNPs within 2kb

67 from dbSNP Build 142

RFLP

3

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UniProt

1 Sequence
Protein Ontology

PR:000009981 lumican
InterPro Domains

IPR001611 Leucine-rich repeat

IPR032675 Leucine-rich repeat domain, L domain-like

IPR000372 Leucine-rich repeat N-terminal domain

IPR003591 Leucine-rich repeat, typical subtype

IPR027219 Lumican

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All nucleic 124

Genomic 4

cDNA 118

Primer pair 1

Other 1

Microarray probesets 3

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MGD-MRK-23785, MGD-MRK-38392

Summaries

All 79

Developmental Gene Expression 21

Diseases 2

Gene Ontology 8

Phenotypes 36
Earliest

J:25176 Chakravarti S, et al., Localization of mouse lumican (keratan sulfate proteoglycan) to distal chromosome 10. Mamm Genome. 1995 May;6(5):367-8
Latest

J:226028 Lewandowski JP, et al., Spatiotemporal regulation of GLI target genes in the mammalian limb bud. Dev Biol. 2015 Oct 1;406(1):92-103

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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