GENE VIEW

Gjb3

MOUSE GENE INFORMATION [PubMed]

Description

gap junction protein, beta 3

Synonyms

Gjb-3; Cx31; D4Wsu144e; connexin 31; Cnx31

Chromosome

4

Genetic Map Distance

61.48 cM

RefSeq Accessions

NM_001160012; NM_008126; NP_001153484; NP_032152

NCBI Entrez Gene

14620 at chr4:127002479-127008080 (mm9) / chr4:127325235-127330836 (mm10)

Ensembl Gene

ENSMUSG00000042367

VEGA Gene

OTTMUSG00000009382

MGI Gene

Mouse Protein (3)

UniProt ID	Description	Length (AA)	Predicted # TMs
P28231	Gap junction beta-3 protein	270	4
A2A8M5	Gap junction membrane channel protein beta 3	270	4
Q6TPJ0	Connexin 31 (Fragment)	31	0

Pfam Domains

Connexin; Connexin_CCC; 7tm_1; UCR_TM

Mouse alleles (4)

Allele Name	Allele Type
Gjb3^{tm1(KOMP)Vlcg}	KOMP-Regeneron-Project
Gjb3^tm1Kwi	Targeted (Reporter)
Gjb3^tm2.1Kwi	Targeted (knock-in)
Gjb3^tm2.2Kwi	Targeted (Floxed/Frt)

Human Homolog

GJB3 (gap junction protein, beta 3, 31kDa)

Human synonyms

CX31; DFNA2; DFNA2B; EKV

Human cytoband

1p34

Known deafness gene

DFNA2B

Within mapped deafness loci

No

Associated Human Disease in OMIM

Erythrokeratodermia Variabilis Et Progressiva; EKVP [Erythrokeratodermia Figurata, Congenital Familial, in Plaques|Erythrokeratodermia Variabilis; EKV|Erythrokeratodermia, Progressive Symmetric; PSEK]

Deafness, Autosomal Recessive 1A; DFNB1A

Deafness, Autosomal Dominant 2A; DFNA2A

Gap Junction Protein, Beta-3; GJB3 [Gap Junction Protein, 31-kD]

Deafness, Autosomal Dominant 2B; DFNA2B

Chicken homolog (0)

Biological Process (3)	cell communication; sensory perception of sound; placenta development
Cellular Component (6)	integral to membrane; membrane; cell junction; plasma membrane; gap junction; connexon complex
Molecular Function (1)	protein binding

FACS-Sorted Hair Cells

Data | Chart

	E16a	E16b	P0	P4	P7	P16
Utricle GFP+ cells	0	1	17	11	1	39
Cochlea GFP+ cells	0	8	0	0	0	NA
Utricle GFP- cells	0	8	8	0	0	0
Cochlea GFP- cells	0	11	10	0	1	NA

Analysis

Condition A	Mean A	Condition B	Mean B	Fold Change (B/A)	False Discovery Rate (FDR)
GFP-	3	GFP+	7	1.95	0.952
Utricle	7	Cochlea	3	0.48	1
Embryonic	3	Postnatal	6	1.72	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)
17430216	4.88 ± 0.04	5.48 ± 0.86 [4.21]	1.12	0.598

Otic Progenitor Cells

Data

Growth Factor	Replicate 1	Replicate 2	Replicate 3	Mean
bFGF	324	305	367	250
No bFGF	170	187	183	181
EGF	34	33	30	32

Analysis

Condition A	Mean A	Condition B	Mean B	Fold Change (B/A)	False Discovery Rate (FDR)
bFGF	250	No bFGF	181	0.72	1
bFGF	250	EGF	32	0.13	1.35e-41
No bFGF	181	EGF	32	0.18	7.35e-27

Chicken Stereocilium Proteomics

No chicken homolog has been identified for Gjb3.

Auditory and Vestibular Ganglion Neurons

Probe set ID: 1416715_at

Age	E12	E13	E16	P0	P6	P15
Spiral ganglion
Replicate 1	6.33	2.76	23.26	5.54	10.13	3.9
Replicate 1 Call	A	A	A	A	A	A
Replicate 2	7	1.67	19.6	1.39	21.51	4.94
Replicate 2 Call	A	A	A	A	A	A
Replicate 3	2.74	34.21	25.96	11.84	13.6	13.32
Replicate 3 Call	A	A	A	A	A	A
Replicate 4			15.94	18.84	9.32	19.19
Replicate 4 Call			A	A	A	A
Mean	5.36	12.88	21.19	9.4	13.64	10.34
Standard Deviation	2.29	18.48	4.36	7.62	5.57	7.25
Log2 Mean	2.31	2.43	4.38	2.69	3.69	3.07
Log2 Standard Deviation	0.74	2.33	0.31	1.64	0.55	1.11

Vestibular ganglion
Replicate 1	1	5.83	15.91	10.28	9.73	31.72
Replicate 1 Call	A	A	A	A	A	A
Replicate 2	1.26	4.64	11.98	9.03	1.17	40.93
Replicate 2 Call	A	A	A	A	A	A
Replicate 3	1	26.37	1.91	12.17	1.16	17.78
Replicate 3 Call	A	A	A	A	A	A
Mean	1.09	12.28	9.93	10.49	4.02	30.14
Standard Deviation	0.15	12.22	7.22	1.58	4.95	11.66
Log2 Mean	0.11	3.16	2.84	3.38	1.24	4.83
Log2 Standard Deviation	0.19	1.36	1.66	0.22	1.77	0.62