Btbd19 (BTB domain containing 19)

Gene: Btbd19 (BTB domain containing 19) Heterocephalus glaber

Analyze

Symbol:

Btbd19

Name:

BTB domain containing 19

RGD ID:

18929316

Description:

ASSOCIATED WITH Charcot-Marie-Tooth disease dominant intermediate C (ortholog); developmental and epileptic encephalopathy (ortholog); early infantile epileptic encephalopathy (ortholog)

Type:

protein-coding

RefSeq Status:

MODEL

Previously known as:

BTB/POZ domain-containing protein 19; BTB/POZ domain-containing protein 9

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Latest Assembly:

HetGla 1.0 - Naked Mole-Rat female 1.0 Assembly

Position:

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_004624906	696,533 - 701,018 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624906	695,864 - 703,200 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

Charcot-Marie-Tooth disease dominant intermediate C (ISO)

developmental and epileptic encephalopathy (ISO)

early infantile epileptic encephalopathy (ISO)

genetic disease (ISO)

References

Additional References at PubMed

PMID:21993625	PMID:22301074

Genomics

Comparative Map Data

Btbd19
(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_004624906	696,533 - 701,018 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624906	695,864 - 703,200 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

BTBD19
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	44,808,523 - 44,815,585 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	44,808,523 - 44,815,585 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	45,274,195 - 45,281,257 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	45,046,741 - 45,052,388 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	1	43,557,034 - 43,562,677 (+)	NCBI		Celera
Cytogenetic Map	1	p34.1	NCBI
HuRef	1	43,386,890 - 43,392,537 (+)	NCBI		HuRef
CHM1_1	1	45,390,351 - 45,395,995 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	1	44,679,677 - 44,686,711 (+)	NCBI		T2T-CHM13v2.0

Btbd19
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	4	116,976,409 - 116,983,531 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	4	116,976,416 - 116,982,922 (-)	Ensembl		GRCm39 Ensembl
GRCm38	4	117,119,219 - 117,125,658 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	4	117,119,219 - 117,125,725 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	4	116,791,823 - 116,798,330 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	4	116,617,809 - 116,620,317 (-)	NCBI		MGSCv36	mm8
Celera	4	115,856,973 - 115,863,497 (-)	NCBI		Celera
Cytogenetic Map	4	D1	NCBI
cM Map	4	53.41	NCBI

Btbd19
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	5	135,834,251 - 135,843,679 (-)	NCBI		GRCr8
mRatBN7.2	5	130,596,966 - 130,605,403 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	5	130,597,684 - 130,604,335 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	5	133,222,026 - 133,228,746 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	5	134,976,635 - 134,983,353 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	5	134,999,052 - 135,005,778 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	5	135,988,549 - 135,994,985 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	5	135,987,573 - 135,994,848 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	5	139,782,223 - 139,790,792 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	5	137,434,883 - 137,440,466 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	5	129,119,427 - 129,125,859 (-)	NCBI		Celera
Cytogenetic Map	5	q36	NCBI

Btbd19
(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_004955464	13,408,973 - 13,416,915 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955464	13,401,388 - 13,416,924 (-)	NCBI	ChiLan1.0	ChiLan1.0

BTBD19
(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	181,991,752 - 181,998,744 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	1	181,132,427 - 181,142,080 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	1	44,110,664 - 44,118,397 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	1	45,478,464 - 45,484,235 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	1	45,478,464 - 45,484,207 (+)	Ensembl	panpan1.1		panPan2

BTBD19
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	15	15,511,430 - 15,516,611 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	15	15,512,018 - 15,516,013 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	15	15,631,616 - 15,638,876 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	15	15,666,802 - 15,674,076 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	15	15,667,390 - 15,671,420 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	15	15,464,042 - 15,471,285 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	15	15,531,533 - 15,538,807 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	15	15,604,325 - 15,611,597 (-)	NCBI		UU_Cfam_GSD_1.0

Btbd19
(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	60,209,422 - 60,216,081 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936474	26,034,758 - 26,042,680 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936474	26,034,806 - 26,041,430 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

BTBD19
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	6	166,520,244 - 166,526,858 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	6	166,520,266 - 166,526,725 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	6	154,053,553 - 154,059,563 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

BTBD19
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	20	87,975,031 - 87,988,859 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	20	87,981,838 - 87,986,789 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666033	28,951,630 - 28,959,142 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Expression

Sequence

Nucleotide Sequences


RefSeq Transcripts	XM_004872908	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_021250780	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_021250781	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_021250782	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_021250783	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AHKG01102507	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	JH166648	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENSHGLT00000000577 ⟹ ENSHGLP00000000538

Type:

CODING

Position:

Naked Mole-Rat Assembly	Chr	Position (strand)	Source
HetGla_female_1.0 Ensembl	NW_004624906	696,533 - 701,018 (+)	Ensembl

RefSeq Acc Id:

XM_004872908 ⟹ XP_004872965

Type:

CODING

Position:

Naked Mole-Rat Assembly	Chr	Position (strand)	Source
HetGla 1.0	NW_004624906	695,864 - 703,200 (+)	NCBI

RefSeq Acc Id:

XM_021250780 ⟹ XP_021106439

Type:

CODING

Position:

Naked Mole-Rat Assembly	Chr	Position (strand)	Source
HetGla 1.0	NW_004624906	695,864 - 703,200 (+)	NCBI

RefSeq Acc Id:

XM_021250781 ⟹ XP_021106440

Type:

CODING

Position:

Naked Mole-Rat Assembly	Chr	Position (strand)	Source
HetGla 1.0	NW_004624906	695,864 - 703,200 (+)	NCBI

RefSeq Acc Id:

XM_021250782 ⟹ XP_021106441

Type:

CODING

Position:

Naked Mole-Rat Assembly	Chr	Position (strand)	Source
HetGla 1.0	NW_004624906	695,864 - 703,200 (+)	NCBI

RefSeq Acc Id:

XM_021250783 ⟹ XP_021106442

Type:

CODING

Position:

Naked Mole-Rat Assembly	Chr	Position (strand)	Source
HetGla 1.0	NW_004624906	695,864 - 703,200 (+)	NCBI

Protein Sequences


Protein RefSeqs	XP_004872965	(Get FASTA)	NCBI Sequence Viewer
	XP_021106439	(Get FASTA)	NCBI Sequence Viewer
	XP_021106440	(Get FASTA)	NCBI Sequence Viewer
	XP_021106441	(Get FASTA)	NCBI Sequence Viewer
	XP_021106442	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	EHA99764	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSHGLP00000000538

RefSeq Acc Id:	XP_021106439 ⟸ XM_021250780
- Peptide Label:	isoform X1

RefSeq Acc Id:	XP_021106441 ⟸ XM_021250782
- Peptide Label:	isoform X3
- UniProtKB:	G5ARV0 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_021106442 ⟸ XM_021250783
- Peptide Label:	isoform X5
- UniProtKB:	G5ARV0 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_021106440 ⟸ XM_021250781
- Peptide Label:	isoform X2

RefSeq Acc Id:	XP_004872965 ⟸ XM_004872908
- Peptide Label:	isoform X4
- UniProtKB:	G5ARV0 (UniProtKB/TrEMBL)

RefSeq Acc Id:

ENSHGLP00000000538 ⟸ ENSHGLT00000000577

Additional Information

External Database Links

Database	Acc Id	Source(s)
Ensembl Genes	ENSHGLG00000000480	Ensembl, ENTREZGENE
Ensembl Transcript	ENSHGLT00000000577	ENTREZGENE
Gene3D-CATH	1.25.40.420	UniProtKB/TrEMBL
InterPro	BACK	UniProtKB/TrEMBL
	BTB/POZ_dom	UniProtKB/TrEMBL
	BTBD19	UniProtKB/TrEMBL
	SKP1/BTB/POZ_sf	UniProtKB/TrEMBL
NCBI Gene	Btbd19	ENTREZGENE
PANTHER	BTB/POZ DOMAIN-CONTAINING PROTEIN 19	UniProtKB/TrEMBL
	BTB/POZ DOMAIN-CONTAINING PROTEIN 19	UniProtKB/TrEMBL
Pfam	BACK	UniProtKB/TrEMBL
	BTB	UniProtKB/TrEMBL
PROSITE	BTB	UniProtKB/TrEMBL
SMART	BACK	UniProtKB/TrEMBL
	BTB	UniProtKB/TrEMBL
Superfamily-SCOP	POZ domain	UniProtKB/TrEMBL
UniProt	G5ARV0	ENTREZGENE, UniProtKB/TrEMBL

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)

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Imported Disease Annotations - ClinVar