SHIELD | Shared Harvard Inner-Ear Laboratory Database

MOUSE GENE INFORMATION [PubMed]

Description

SRY (sex determining region Y)-box 10

Synonyms

Sox21

Chromosome

Genetic Map Distance

37.70 cM

RefSeq Accessions

NP_035567; XM_128139

NCBI Entrez Gene

20665 at chr15:78985343-78994920 (mm9) / chr15:79154909-79165235 (mm10)

Ensembl Gene

ENSMUSG00000033006

VEGA Gene

MGI Gene

MGI:98358

Mouse Protein (4)

UniProt ID	Description	Length (AA)
Q04888	Transcription factor SOX-10	466
O88418	Dominant megacolon mutant Sox-10 protein	292
Q80V12	Sox10 protein (Fragment)	506
Q8C916	Putative uncharacterized protein	466

Pfam Domains

Sox_N; HMG_box; Pfam-B_3877

Mouse alleles (13)

Allele Name	Allele Type
Sox10^{tm1a(EUCOMM)Hmgu}	EUCOMM-projects
Sox10^{tm1e(EUCOMM)Hmgu}	EUCOMM-projects
Sox10^Dal	Chemically induced (ENU)
Sox10^df10R	Radiation induced
Sox10^df8R	Radiation induced
Sox10^Dom	Spontaneous
Sox10^tm1Weg	Targeted (Reporter)
Sox10^tm2(rtTA)Weg	Targeted (knock-in)
Sox10^tm3(Sox8)Weg	Targeted (knock-in)
Sox10^tm4Weg	Targeted (knock-in)
Sox10^tm5Weg	Targeted (knock-in)
Sox10^{tm6(Sox100B)Weg}	Targeted (Reporter)
Sox10^{tm7.1(Sox10)Weg}	Targeted (Floxed/Frt)

Human Homolog

SOX10 (SRY (sex determining region Y)-box 10)

Human synonyms

DOM; PCWH; WS2E; WS4; WS4C

Human cytoband

22q13.1

Known deafness gene

WS4

Within mapped deafness loci

Associated Human Disease in OMIM

Hirschsprung Disease, Susceptibility to, 1; HSCR1 [Aganglionic Megacolon|Hirschsprung Disease; HSCR|Megacolon, Aganglionic; MGC]

Waardenburg Syndrome, Type 4A; WS4A [Shah-Waardenburg Syndrome|Waardenburg Syndrome with Hirschsprung Disease, Type 4a|Waardenburg Syndrome, Type IVA|Waardenburg-Shah Syndrome|Ws4]

Yemenite Deaf-Blind Hypopigmentation Syndrome

Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease; PCWH [Waardenburg-Shah Syndrome, Neurologic Variant]

Waardenburg Syndrome, Type 2E; WS2E [Waardenburg Syndrome, Type 2e, with or without Neurologic Involvement|Waardenburg Syndrome, Type IIE|Ws2e, with or without Neurologic Involvement]

Waardenburg Syndrome, Type 4c; WS4C [Waardenburg Syndrome with Hirschsprung Disease, Type 4C|Waardenburg Syndrome, Type Ivc]

Chicken homolog (1)

ENSGALG00000012290 (SOX10_CHICK) encoding ENSGALP00000020056

Gene Ontology

Biological Process (30)	transcription; DNA-dependent; melanocyte differentiation; peripheral nervous system development; cell differentiation; negative regulation of canonical Wnt receptor signaling pathway; negative regulation of apoptotic process; developmental growth; enteric nervous system development; enteric nervous system development; enteric nervous system development; positive regulation of gliogenesis; oligodendrocyte differentiation; neural crest cell migration; negative regulation of transcription; DNA-dependent; digestive tract morphogenesis; digestive tract morphogenesis; digestive tract morphogenesis; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription from RNA polymerase II promoter; oligodendrocyte differentiation; positive regulation of transcription; DNA-dependent; regulation of transcription; DNA-dependent; positive regulation of transcription; DNA-dependent; positive regulation of transcription; DNA-dependent; positive regulation of neuroblast proliferation; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription from RNA polymerase II promoter; in utero embryonic development; cell maturation; cell maturation
Cellular Component (8)	extrinsic to mitochondrial outer membrane; nucleus; nucleus; nucleus; nucleus; nucleus; cytoplasm; cytoplasm
Molecular Function (13)	transcription factor binding; protein binding; protein binding; sequence-specific DNA binding transcription factor activity; DNA binding; DNA binding; chromatin binding; sequence-specific distal enhancer binding RNA polymerase II transcription factor activity; RNA polymerase II distal enhancer sequence-specific DNA binding; identical protein binding; sequence-specific DNA binding RNA polymerase II transcription factor activity; RNA polymerase II core promoter proximal region sequence-specific DNA binding; transcription regulatory region DNA binding

FACS-Sorted Hair Cells

Data | Chart

	E16a	E16b	P0	P4	P7	P16
Utricle GFP+ cells	65	253	45	22	38	19
Cochlea GFP+ cells	70	233	54	46	15	NA
Utricle GFP- cells	250	169	436	866	513	597
Cochlea GFP- cells	136	121	482	332	146	NA

Analysis

Condition A	Mean A	Condition B	Mean B	Fold Change (B/A)	False Discovery Rate (FDR)
GFP-	368	GFP+	78	0.21	0.224
Utricle	273	Cochlea	163	0.60	1
Embryonic	162	Postnatal	258	1.59	1

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)
17319134	79.60 ± 4.18	41.81 ± 11.29 [62.96]	0.53	0.284

Otic Progenitor Cells

Data

Growth Factor	Replicate 1	Replicate 2	Replicate 3	Mean
bFGF	6	10	2	5
No bFGF	7	9	9	7
EGF	2	2	3	2

Analysis

Condition A	Mean A	Condition B	Mean B	Fold Change (B/A)	False Discovery Rate (FDR)
bFGF	5	No bFGF	7	1.39	1
bFGF	5	EGF	2	0.55	0.25
No bFGF	7	EGF	2	0.40	0.071

Chicken Stereocilium Proteomics

The chicken protein was not reproducibly detected in the chicken stereocilia.

The chicken protein was not reproducibly detected in the chicken stereocilia.

Auditory and Vestibular Ganglion Neurons

Probe set ID: 1424985_a_at

Age	E12	E13	E16	P0	P6	P15
Spiral ganglion
Replicate 1	145.44	158.11	137.67	152.72	169.33	197.69
Replicate 1 Call	A	P	A	A	A	A
Replicate 2	129.92	190.53	94.69	183.84	159.15	171
Replicate 2 Call	A	P	A	A	A	A
Replicate 3	103.08	156	143.28	122.25	131.52	203.96
Replicate 3 Call	P	P	A	A	M	A
Replicate 4			185.65	149.97	118.82	199.69
Replicate 4 Call			P	A	A	A
Mean	126.15	168.21	140.32	152.2	144.71	193.09
Standard Deviation	21.43	19.36	37.21	25.19	23.52	14.95
Log2 Mean	6.96	7.39	7.09	7.23	7.16	7.59
Log2 Standard Deviation	0.25	0.16	0.4	0.24	0.24	0.12

Vestibular ganglion
Replicate 1	92.01	149.08	114.13	86.22	136.94	132.57
Replicate 1 Call	A	A	M	A	A	A
Replicate 2	133.75	179.48	144.04	137.57	88.34	229.64
Replicate 2 Call	A	P	A	A	P	A
Replicate 3	128.95	174.81	106.95	123.67	184.61	108.84
Replicate 3 Call	A	P	A	A	A	A
Mean	118.24	167.79	121.71	115.82	136.63	157.02
Standard Deviation	22.84	16.37	19.67	26.56	48.14	64
Log2 Mean	6.87	7.39	6.92	6.83	7.03	7.22
Log2 Standard Deviation	0.3	0.14	0.23	0.35	0.53	0.56

Probe set ID: 1425369_a_at

Age	E12	E13	E16	P0	P6	P15
Spiral ganglion
Replicate 1	67.55	88.89	42.8	60.54	43.8	50.08
Replicate 1 Call	A	A	P	A	A	A
Replicate 2	74.5	71.62	53.95	45.19	62.4	68
Replicate 2 Call	A	A	P	A	A	A
Replicate 3	53.08	113.78	59.23	33.87	57.84	75.37
Replicate 3 Call	A	A	P	A	A	A
Replicate 4			44.71	60.62	46.27	67.38
Replicate 4 Call			P	A	A	A
Mean	65.04	91.43	50.17	50.06	52.58	65.21
Standard Deviation	10.93	21.19	7.76	13	8.96	10.72
Log2 Mean	6.01	6.49	5.64	5.61	5.7	6.01
Log2 Standard Deviation	0.25	0.33	0.22	0.4	0.25	0.25

Vestibular ganglion
Replicate 1	85.46	74.11	58.25	85.14	97.55	94.7
Replicate 1 Call	A	A	A	A	A	A
Replicate 2	71.78	77.07	65.3	71.88	81.3	112.44
Replicate 2 Call	A	A	A	A	A	A
Replicate 3	45.28	73.71	70.71	53.1	88.94	117.2
Replicate 3 Call	A	A	A	A	A	A
Mean	67.51	74.96	64.75	70.04	89.26	108.11
Standard Deviation	20.43	1.84	6.25	16.1	8.13	11.86
Log2 Mean	6.03	6.23	6.01	6.1	6.48	6.75
Log2 Standard Deviation	0.47	0.04	0.14	0.35	0.13	0.16

Probe set ID: 1451689_a_at

Age	E12	E13	E16	P0	P6	P15
Spiral ganglion
Replicate 1	1469.7	1640.63	75.34	960.56	524.34	550.87
Replicate 1 Call	P	P	A	P	P	A
Replicate 2	1533.34	2146.26	83.66	412.8	541.84	309.53
Replicate 2 Call	P	P	A	A	A	A
Replicate 3	1639.76	2105.45	167.18	185.25	508.29	922.3
Replicate 3 Call	P	P	A	A	A	P
Replicate 4			139.48	173.26	279.8	1151.12
Replicate 4 Call			A	A	A	P
Mean	1547.6	1964.11	116.42	432.97	463.57	733.46
Standard Deviation	85.92	280.89	44.23	368.59	123.28	375.57
Log2 Mean	10.59	10.93	6.78	8.39	8.81	9.35
Log2 Standard Deviation	0.08	0.22	0.56	1.16	0.46	0.84

Vestibular ganglion
Replicate 1	2364.02	2784.51	1496.36	1263.6	1268.63	1381.25
Replicate 1 Call	P	P	P	P	P	P
Replicate 2	2339.96	2602.17	1630.33	1504.9	1655.94	1157.14
Replicate 2 Call	P	P	P	P	P	P
Replicate 3	2438.7	2703.7	1322.78	1172.61	1391.96	1334.74
Replicate 3 Call	P	P	P	P	P	P
Mean	2380.89	2696.79	1483.16	1313.7	1438.84	1291.04
Standard Deviation	51.49	91.37	154.2	171.72	197.87	118.27
Log2 Mean	11.22	11.4	10.53	10.35	10.48	10.33
Log2 Standard Deviation	0.03	0.05	0.15	0.18	0.2	0.14

GENE VIEW

Sox10