Gja8 (gap junction protein alpha 8)

Gene: Gja8 (gap junction protein alpha 8) Chinchilla lanigera

Analyze

Symbol:

Gja8

Name:

gap junction protein alpha 8

RGD ID:

8730795

Description:

ENCODES a protein that exhibits gap junction channel activity (ortholog); identical protein binding (ortholog); INVOLVED IN camera-type eye development (ortholog); cell-cell signaling (ortholog); gap junction-mediated intercellular transport (ortholog); ASSOCIATED WITH anterior segment dysgenesis (ortholog); autism spectrum disorder (ortholog); cataract (ortholog); FOUND IN connexin complex (ortholog); plasma membrane (ortholog)

Type:

protein-coding

RefSeq Status:

MODEL

Previously known as:

gap junction protein, alpha 8, 50kDa

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Latest Assembly:

ChiLan1.0 - Chinchilla ChiLan1.0 Assembly

Position:

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955568	515,113 - 516,435 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955568	514,905 - 516,551 (-)	NCBI	ChiLan1.0	ChiLan1.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

anterior segment dysgenesis (ISO)

autism spectrum disorder (ISO)

cataract (ISO)

cataract 1 multiple types (ISO)

cataract 27 (ISO)

Cataract Microcornea Syndrome (ISO)

chromosome 1q21.1 deletion syndrome (ISO)

chromosome 1q21.1 duplication syndrome (ISO)

gastrointestinal stromal tumor (ISO)

genetic disease (ISO)

microphthalmia (ISO)

Neurodevelopmental Disorders (ISO)

parathyroid carcinoma (ISO)

schizophrenia (ISO)

thrombocytopenia-absent radius syndrome (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

camera-type eye development (ISO)

cell-cell signaling (ISO)

gap junction-mediated intercellular transport (ISO)

lens development in camera-type eye (ISO)

regulation of catalase activity (ISO)

regulation of glutathione peroxidase activity (ISO)

regulation of granulocyte macrophage colony-stimulating factor production (ISO)

Cellular Component

connexin complex (ISO)

plasma membrane (ISO)

Molecular Function

gap junction channel activity (ISO)

identical protein binding (ISO)

protein binding (ISO)

References

References - curated

#	Reference Title	Reference Citation
1.	Transitive Annotation Pipeline	Automated assignment of GO, PW and RDO ISO annotations across species
2.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline

Additional References at PubMed

PMID:22301074	PMID:30032202

Genomics

Comparative Map Data

Gja8
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955568	515,113 - 516,435 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955568	514,905 - 516,551 (-)	NCBI	ChiLan1.0	ChiLan1.0

GJA8
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	147,902,795 - 147,914,486 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	147,902,795 - 147,909,269 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	147,374,921 - 147,381,396 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	145,841,560 - 145,848,017 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	1	144,599,751 - 144,606,209	NCBI
Celera	1	121,602,609 - 121,609,059 (-)	NCBI		Celera
Cytogenetic Map	1	q21.2	NCBI
HuRef	1	120,788,421 - 120,794,871 (+)	NCBI		HuRef
CHM1_1	1	149,270,946 - 149,277,395 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	1	146,892,371 - 146,904,865 (-)	NCBI		T2T-CHM13v2.0

Gja8
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	3	96,820,882 - 96,833,367 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	3	96,820,882 - 96,833,336 (-)	Ensembl		GRCm39 Ensembl
GRCm38	3	96,913,566 - 96,926,051 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	3	96,913,566 - 96,926,020 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	3	96,722,945 - 96,729,853 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	3	97,004,427 - 97,011,335 (-)	NCBI		MGSCv36	mm8
Celera	3	98,326,218 - 98,333,125 (-)	NCBI		Celera
Cytogenetic Map	3	F2.1	NCBI
cM Map	3	42.03	NCBI

Gja8
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	2	187,179,668 - 187,181,284 (-)	NCBI		GRCr8
mRatBN7.2	2	184,490,840 - 184,492,456 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	2	184,490,840 - 184,492,456 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	2	192,132,950 - 192,134,566 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	2	189,930,874 - 189,932,490 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	2	184,765,517 - 184,767,133 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	2	199,050,854 - 199,052,470 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	2	199,050,854 - 199,052,470 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	2	218,536,831 - 218,538,447 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
Celera	2	176,986,507 - 176,988,123 (-)	NCBI		Celera
Cytogenetic Map	2	q34	NCBI

GJA8
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	1	101,790,607 - 101,799,706 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	1	101,379,904 - 101,388,145 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	1	123,352,801 - 123,355,625 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	1	112,176,580 - 112,183,032 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	1	112,174,365 - 112,177,893 (-)	Ensembl	panpan1.1		panPan2

GJA8
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	17	58,360,313 - 58,428,751 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	17	58,424,072 - 58,425,391 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	17	57,828,663 - 57,898,680 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	17	59,356,989 - 59,426,996 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	17	59,419,303 - 59,425,425 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	17	58,229,994 - 58,300,020 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	17	58,290,623 - 58,360,697 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	17	59,017,265 - 59,087,398 (+)	NCBI		UU_Cfam_GSD_1.0

Gja8
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024405058	20,498,517 - 20,501,991 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936867	374,638 - 375,933 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936867	374,638 - 378,080 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

GJA8
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	4	99,723,341 - 99,724,672 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	4	99,721,754 - 99,724,943 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	4	109,541,665 - 109,561,100 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

GJA8
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Vero_WHO_p1.0	NW_023666038	14,328,894 - 14,335,477 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Gja8
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624772	16,959,615 - 16,960,937 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624772	16,959,615 - 16,960,937 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Expression

Sequence

Nucleotide Sequences


RefSeq Transcripts	XM_005413451	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AGCD01074522	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	GBDF01215343	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENSCLAT00000025594 ⟹ ENSCLAP00000025345

Type:

CODING

Position:

Chinchilla Assembly	Chr	Position (strand)	Source
ChiLan1.0 Ensembl	NW_004955568	515,113 - 516,435 (-)	Ensembl

RefSeq Acc Id:

XM_005413451 ⟹ XP_005413508

Type:

CODING

Position:

Chinchilla Assembly	Chr	Position (strand)	Source
ChiLan1.0	NW_004955568	514,905 - 516,551 (-)	NCBI

Sequence:

show sequence

CCTGCCCAACAACCCAGACAAGAGAGGTACCCCAAGAGTTGGGGTAGCAAAGAGATCCACTCAG
GATTGCACTGTGGCCGCTCAGCCTTTGCCTTTTCCTTCCTAGGTGGTAAACAATGGGCGATTGG
AGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACAGTTATTGGCAGAGTCTGGC
TTACTGTGCTTTTCATCTTCCGGATTCTCATCCTTGGCACGGCTGCAGAGTTTGTGTGGGGGGA
TGAGCAGTCTGACTTCGTGTGCAATACCCAGCAGCCTGGTTGCGAGAATGTGTGCTATGACGAG
GCCTTCCCTATCTCCCATATCCGCCTCTGGGTCCTGCAGATCATCTTCGTCTCCACTCCATCCC
TCATGTACGTGGGACATGCAGTGCATTATGTCCGCATGGAAGAGAAGCGGAAGGACCGTGAGGC
AGAAGAGCTATGCCAGCAGTCCCGGAGCAACGGCTGTGAAAGGGGAGCACTGGCCCCAGATCAG
GCCAGCATCAGGAAGAGCAGCAGCAGTAGCAAAGGCACCAAAAAGTTCCGACTTGAAGGGACTC
TGCTGAGGACCTACATCTGCCACATCATCTTCAAAACCCTCTTTGAGGTGGGCTTCATAGTGGG
CCACTACTTCCTGTATGGTTTCCGGATCCTGCCCCTTTATCGCTGCAGCCGGTGGCCCTGCCCC
AATGTGGTAGATTGCTTTGTGTCCCGGCCCACTGAGAAAACCATCTTCATCCTGTTTATGTTGT
CTGTGGCCTTTGTGTCCCTCTTCCTCAATATCATGGAGATGAGCCACCTGGGTCTGAAGGGGAT
CCGGTCTGCCTTCAAGAGGCCTGTAGAGCAGCCACTGGGGGAGATTCCTGAGAAATCTCTCCAC
TCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTACCAGCTCCTAGAAGAAGAGAAAATTG
TGTCCCACTATTTCCCTTTGACTGAAGTTGGGATGGTGGAGACCACTCCACTTTCTGCCAAACC
TTTCAGTCAGTTGGAAGAGAAGATCAGCACAGCACCCCTAGCTGATGTTTCCCGGGGTTACCAA
GAGACACTGCCTTCTTATGCTCAGGTGGGGGCACCAGAAGTGGAGGGAGAGGAGCAGTCTGTAG
AGGAGGCAGCAGAACCAGAAGTGGAAGAGAAGAAGCCAGAAACAGAGAAGGTGACCTTGGAAGT
GCAGGAGGTGATGGCAGAGCCAGAAGGGGAAAAAGTAGAGACCCCTGGAGTGGGAAAGGAGGGT
GAAAACGAAGAGCTTCAGGCTGAAAAGGTAACCAAGCAAGGGCTGCCAGCTGAGAAGACACCTT
CACTGTGTCCAGAGCTGACGGCTGATGACACCAGGCCCCTGAGCAGGCTGAGCAAAGCCAGCAG
CCGGGCCAGGTCAGATGATCTAACCATATGAAGAAAAGAAAAACCAAAGAAAGAAAAACCCTCC
CACTCCCAGCTAATCTAGGGCAAGATAAAACAAAAAAGGTGCCGACATGCTCTGAGTGTGCTGC
CCCTCCAGCCACTCCACCCCTGATTGGACAGATGCTGCAATGAAACAGTGTATGCTGTGCAACT
AGGACACTGCCTCTCCCACATTTTAAGGGCTACCAAGGTAAACACAT

hide sequence

Protein Sequences


Protein RefSeqs	XP_005413508	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSCLAP00000025345
	ENSCLAP00000025345.1

RefSeq Acc Id:

XP_005413508 ⟸ XM_005413451

- UniProtKB:

A0A8C2WCB5 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MGDWSFLGNILEEVNEHSTVIGRVWLTVLFIFRILILGTAAEFVWGDEQSDFVCNTQQPGCENV
CYDEAFPISHIRLWVLQIIFVSTPSLMYVGHAVHYVRMEEKRKDREAEELCQQSRSNGCERGAL
APDQASIRKSSSSSKGTKKFRLEGTLLRTYICHIIFKTLFEVGFIVGHYFLYGFRILPLYRCSR
WPCPNVVDCFVSRPTEKTIFILFMLSVAFVSLFLNIMEMSHLGLKGIRSAFKRPVEQPLGEIPE
KSLHSIAVSSIQKAKGYQLLEEEKIVSHYFPLTEVGMVETTPLSAKPFSQLEEKISTAPLADVS
RGYQETLPSYAQVGAPEVEGEEQSVEEAAEPEVEEKKPETEKVTLEVQEVMAEPEGEKVETPGV
GKEGENEELQAEKVTKQGLPAEKTPSLCPELTADDTRPLSRLSKASSRARSDDLTI

hide sequence

RefSeq Acc Id:

ENSCLAP00000025345 ⟸ ENSCLAT00000025594

Protein Domains

Connexin N-terminal Gap junction protein cysteine-rich

Additional Information

External Database Links

Database	Acc Id	Source(s)
Ensembl Genes	ENSCLAG00000017420	Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript	ENSCLAT00000025594	ENTREZGENE
	ENSCLAT00000025594.1	UniProtKB/TrEMBL
Gene3D-CATH	1.20.1440.80	UniProtKB/TrEMBL
InterPro	Connexin	UniProtKB/TrEMBL
	Connexin50	UniProtKB/TrEMBL
	Connexin_CCC	UniProtKB/TrEMBL
	Connexin_CS	UniProtKB/TrEMBL
	Connexin_N	UniProtKB/TrEMBL
	Connexin_N_sf	UniProtKB/TrEMBL
NCBI Gene	Gja8	ENTREZGENE
PANTHER	PTHR11984	UniProtKB/TrEMBL
	PTHR11984:SF19	UniProtKB/TrEMBL
Pfam	Connexin	UniProtKB/TrEMBL
	Connexin50	UniProtKB/TrEMBL
PRINTS	CONNEXIN	UniProtKB/TrEMBL
	CONNEXINA8	UniProtKB/TrEMBL
PROSITE	CONNEXINS_1	UniProtKB/TrEMBL
	CONNEXINS_2	UniProtKB/TrEMBL
SMART	CNX	UniProtKB/TrEMBL
	Connexin_CCC	UniProtKB/TrEMBL
UniProt	A0A8C2WCB5	ENTREZGENE, UniProtKB/TrEMBL

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-08-16	Gja8	gap junction protein alpha 8		gap junction protein, alpha 8, 50kDa	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM