SHIELD | Shared Harvard Inner-Ear Laboratory Database

MOUSE GENE INFORMATION [PubMed]

Description

low density lipoprotein receptor-related protein 2

Synonyms

D230004K18Rik; Megalin; Gp330; b2b1625.2Clo

Chromosome

Genetic Map Distance

40.74 cM

RefSeq Accessions

NM_001081088; NP_001074557; XM_130363

NCBI Entrez Gene

14725 at chr2:69262392-69424124 (mm9) / chr2:69424335-69586067 (mm10)

Ensembl Gene

ENSMUSG00000027070

VEGA Gene

OTTMUSG00000012988

MGI Gene

MGI:95794

Mouse Protein (3)

UniProt ID	Description	Length (AA)	Predicted # TMs
A2ARV4	Low-density lipoprotein receptor-related protein 2	4660	2
A2ARV5	Low density lipoprotein receptor-related protein 2	1363	1
Q3V346	Low density lipoprotein receptor-related protein 2	426	1

Pfam Domains

Mouse alleles (4)

Allele Name	Allele Type
Lrp2^{tm1(KOMP)Vlcg}	KOMP-Regeneron-Project
Lrp2^m267Asp	Chemically induced (ENU)
Lrp2^tm1Her	Targeted (knock-out)
Lrp2^tm1Tew	Targeted (Floxed/Frt)

Human Homolog

LRP2 (low density lipoprotein receptor-related protein 2)

Human synonyms

DBS; GP330

Human cytoband

2q24-q31

Known deafness gene

Within mapped deafness loci

DFNA60; DFNB27; DFNA20

Associated Human Disease in OMIM

Donnai-Barrow Syndrome [Dbs/Foar Syndrome|Diaphragmatic Hernia, Exomphalos, Absent Corpus Callosum, Hypertelorism, Myopia, Sensorineural Deafness, and Proteinuria|Faciooculoacousticorenal Syndrome]

Chicken homolog (2)

ENSGALG00000010858 (LRP2) encoding ENSGALP00000017630

ENSGALG00000010858 (LRP2) encoding ENSGALP00000020249

Gene Ontology

Biological Process (12)	response to X-ray; endosome transport; hemoglobin import; lipoprotein transport; transcytosis; hormone secretion; receptor-mediated endocytosis; receptor-mediated endocytosis; cell proliferation; vitamin metabolic process; forebrain development; endocytosis
Cellular Component (22)	brush border membrane; brush border membrane; apical part of cell; apical part of cell; endosome; endosome; endosome; brush border; brush border; apical plasma membrane; apical plasma membrane; apical plasma membrane; membrane fraction; membrane fraction; integral to membrane; membrane; endoplasmic reticulum; Golgi apparatus; coated pit; endocytic vesicle; extracellular space; cytoplasm
Molecular Function (9)	lipoprotein transporter activity; receptor activity; receptor activity; SH3 domain binding; calcium ion binding; hemoglobin binding; protein binding; protein binding; protein binding

FACS-Sorted Hair Cells

Data | Chart

	E16a	E16b	P0	P4	P7	P16
Utricle GFP+ cells	30	0	3	0	10	58
Cochlea GFP+ cells	13	194	193	18	3	NA
Utricle GFP- cells	193	35	17	1	47	0
Cochlea GFP- cells	46	59	35	45	26	NA

Analysis

Condition A	Mean A	Condition B	Mean B	Fold Change (B/A)	False Discovery Rate (FDR)
GFP-	46	GFP+	47	1.04	0.891
Utricle	33	Cochlea	63	1.92	1
Embryonic	71	Postnatal	33	0.46	0.373

Adult Cochlear Inner and Outer Hair Cells

Probeset ID	IHC (mean ± sd)	OHC (mean ± sd) [OHC replicate]	Fold Change (OHC/IHC)	False Discovery Rate (FDR)
17386210	8.65 ± 0.29	9.14 ± 2.22 [14.26]	1.06	0.501

Otic Progenitor Cells

Data

Growth Factor	Replicate 1	Replicate 2	Replicate 3	Mean
bFGF	378	411	414	306
No bFGF	292	302	298	226
EGF	303	297	301	300

Analysis

Condition A	Mean A	Condition B	Mean B	Fold Change (B/A)	False Discovery Rate (FDR)
bFGF	306	No bFGF	226	0.74	0.98
bFGF	306	EGF	300	0.98	0.95
No bFGF	226	EGF	300	1.33	0.0456

Chicken Stereocilium Proteomics

Protein ID	ENSGALP00000017630
Symbol	LRP2
Description	Low density lipoprotein receptor-related protein 2
log10 riBAQ in stereocilia (mean ± sd)	ND
log10 riBAQ in utricle (mean ± sd)	-6.05 ± 0.64
Molecules per stereocilium (mean ± error with slope error)	ND
Corrected Molecules per stereocilium (mean ± sd)	ND
Stereocilium / Utricle ratio (mean ± sd)	UTR only
Enriched in the stereocilia (FDR < 0.05)	NA

Auditory and Vestibular Ganglion Neurons

Probe set ID: 1427133_s_at

Age	E12	E13	E16	P0	P6	P15
Spiral ganglion
Replicate 1	20.86	14.66	10.59	10.27	7.1	4.67
Replicate 1 Call	A	A	A	A	A	A
Replicate 2	9.9	13.77	10.91	5.19	12.38	1
Replicate 2 Call	A	A	A	A	A	A
Replicate 3	29.87	3.79	14.27	11.72	16.52	11.08
Replicate 3 Call	A	A	A	A	A	A
Replicate 4			30.84	9.92	13.39	6.94
Replicate 4 Call			A	A	A	A
Mean	20.21	10.74	16.65	9.28	12.35	5.92
Standard Deviation	10	6.04	9.6	2.83	3.92	4.22
Log2 Mean	4.2	3.19	3.91	3.15	3.56	2.12
Log2 Standard Deviation	0.81	1.1	0.72	0.53	0.52	1.5

Vestibular ganglion
Replicate 1	15.22	11.72	18.24	28.23	7.17	50.58
Replicate 1 Call	A	A	A	A	A	P
Replicate 2	10.07	8.91	66.56	23.35	203.41	17.75
Replicate 2 Call	A	A	A	A	P	A
Replicate 3	5.16	5.7	45.44	35.27	29.85	7.43
Replicate 3 Call	A	A	A	A	A	A
Mean	10.15	8.78	43.41	28.95	80.14	25.25
Standard Deviation	5.03	3.01	24.22	5.99	107.35	22.53
Log2 Mean	3.21	3.07	5.25	4.83	5.14	4.23
Log2 Standard Deviation	0.79	0.52	0.96	0.3	2.42	1.39

Probe set ID: 1452320_at

Age	E12	E13	E16	P0	P6	P15
Spiral ganglion
Replicate 1	43.33	64.75	56.78	70.47	77.43	57.27
Replicate 1 Call	A	A	A	A	A	A
Replicate 2	46.54	85.34	53.55	77.72	66.02	111.45
Replicate 2 Call	A	A	P	A	P	A
Replicate 3	42.32	69.26	61.01	73.66	87.18	76.28
Replicate 3 Call	A	A	A	M	A	A
Replicate 4			97.06	44.87	124.93	71.88
Replicate 4 Call			P	A	P	P
Mean	44.06	73.12	67.1	66.68	88.89	79.22
Standard Deviation	2.2	10.82	20.21	14.84	25.54	22.97
Log2 Mean	5.46	6.18	6.03	6.03	6.43	6.27
Log2 Standard Deviation	0.07	0.21	0.39	0.36	0.39	0.4

Vestibular ganglion
Replicate 1	56.75	78.91	106.56	87.25	109.93	105.7
Replicate 1 Call	M	A	A	A	A	P
Replicate 2	63.13	49.71	87.64	100.77	92.69	78.83
Replicate 2 Call	A	A	A	A	A	P
Replicate 3	34.53	52.85	101.59	80.89	82.73	77.32
Replicate 3 Call	A	A	A	A	A	A
Mean	51.47	60.49	98.6	89.64	95.12	87.28
Standard Deviation	15.01	16.03	9.81	10.15	13.76	15.97
Log2 Mean	5.64	5.89	6.62	6.48	6.56	6.43
Log2 Standard Deviation	0.46	0.36	0.15	0.16	0.21	0.25

GENE VIEW

Lrp2