TBC1D10B (TBC1 domain family member 10B)

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Gene: TBC1D10B (TBC1 domain family member 10B) Homo sapiens

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Symbol:

TBC1D10B

Name:

TBC1 domain family member 10B

RGD ID:

1607066

HGNC Page

HGNC:24510

Description:

Enables GTPase activator activity. Involved in retrograde transport, endosome to Golgi. Located in plasma membrane.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

DKFZp434P1750; EPI64B; FP2461; rab27A-GAP-beta; Rab27A-GAPbeta; TBC1 domain family, member 10B

RGD Orthologs

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Tbc1d10b (TBC1 domain family, member 10b)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Tbc1d10b (TBC1 domain family, member 10b)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Tbc1d10b (TBC1 domain family member 10B)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	TBC1D10B (TBC1 domain family member 10B)	NCBI	Ortholog
Canis lupus familiaris (dog):	TBC1D10B (TBC1 domain family member 10B)	HGNC	EggNOG, Ensembl, HomoloGene, NCBI, OrthoDB, OrthoMCL, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Tbc1d10b (TBC1 domain family member 10B)	NCBI	Ortholog
Sus scrofa (pig):	TBC1D10B (TBC1 domain family member 10B)	HGNC	Ensembl, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	TBC1D10B (TBC1 domain family member 10B)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Tbc1d10b (TBC1 domain family member 10B)	NCBI	Ortholog
Other homologs ²
Rattus norvegicus (Norway rat):	Snrk (SNF related kinase)	HGNC	OMA
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Tbc1d10b (TBC1 domain family, member 10b)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Tbc1d10b (TBC1 domain family, member 10b)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	tbc1d10b (TBC1 domain family, member 10b)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Caenorhabditis elegans (roundworm):	tbc-10	Alliance	DIOPT (Ensembl Compara\|InParanoid\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Drosophila melanogaster (fruit fly):	wkd	Alliance	DIOPT (Ensembl Compara\|InParanoid\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus tropicalis (tropical clawed frog):	tbc1d10b	Alliance	DIOPT (Ensembl Compara\|OrthoFinder\|PANTHER\|PhylomeDB)
Xenopus laevis (African clawed frog):	tbc1d10b.L	Alliance	DIOPT (Xenbase)
Xenopus laevis (African clawed frog):	tbc1d10b.S	Alliance	DIOPT (Xenbase)

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	16	30,357,102 - 30,370,494 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	16	30,357,102 - 30,370,494 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	16	30,368,423 - 30,381,815 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	16	30,275,924 - 30,288,402 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	16	29,917,190 - 29,930,290 (+)	NCBI		Celera
Cytogenetic Map	16	p11.2	NCBI
HuRef	16	27,930,553 - 27,943,287 (-)	NCBI		HuRef
CHM1_1	16	31,685,477 - 31,698,576 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	16	30,743,304 - 30,756,697 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

dilated cardiomyopathy (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dimethylhydrazine (ISO)

2,3',4,4',5-Pentachlorobiphenyl (ISO)

2,3,7,8-tetrachlorodibenzodioxine (ISO)

2,6-dinitrotoluene (ISO)

acetylsalicylic acid (EXP)

actinomycin D (EXP)

aflatoxin B1 (EXP,ISO)

all-trans-retinoic acid (EXP)

aristolochic acid A (EXP)

benzo[a]pyrene (EXP,ISO)

beta-lapachone (EXP)

bisphenol A (ISO)

caffeine (EXP)

chlorpyrifos (ISO)

coumarin (EXP)

diazinon (EXP)

doxorubicin (EXP)

epoxiconazole (ISO)

folic acid (ISO)

FR900359 (EXP)

ivermectin (EXP)

ketamine (ISO)

Nutlin-3 (EXP)

ozone (EXP)

paracetamol (ISO)

pentachlorophenol (ISO)

perfluorooctane-1-sulfonic acid (ISO)

perfluorooctanoic acid (EXP)

pirinixic acid (ISO)

quercetin (EXP)

rotenone (ISO)

sevoflurane (ISO)

sodium arsenite (EXP)

sulindac (EXP)

sunitinib (EXP)

tetrachloromethane (ISO)

thiram (EXP)

titanium dioxide (ISO)

triphenyl phosphate (EXP)

triptonide (ISO)

vinclozolin (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

regulation of cilium assembly (IMP)

retrograde transport, endosome to Golgi (IBA,IMP)

Cellular Component

cytoplasm (IBA,IEA)

cytosol (IEA)

plasma membrane (IBA,IDA,IEA)

Molecular Function

GTPase activator activity (IBA,IDA,IEA)

protein binding (IPI)

References

References - curated

#	Reference Title	Reference Citation
1.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:8619474	PMID:9110174	PMID:12477932	PMID:14702039	PMID:15302935	PMID:16368877	PMID:17562788	PMID:17646400	PMID:19077034	PMID:20404108	PMID:21873635	PMID:22354992
PMID:23248241	PMID:23383273	PMID:23686814	PMID:25468996	PMID:25544563	PMID:25921289	PMID:26186194	PMID:26496610	PMID:27248496	PMID:27880917	PMID:28031328	PMID:28514442
PMID:28986522	PMID:29180619	PMID:30639242	PMID:31073040	PMID:31076518	PMID:31091453	PMID:31527750	PMID:31586073	PMID:31753913	PMID:31871319	PMID:32129710	PMID:32296183
PMID:32397798	PMID:32513696	PMID:32913203	PMID:33961781	PMID:34079125	PMID:34349018	PMID:34445801	PMID:34709727	PMID:34757852	PMID:35013218	PMID:35235311	PMID:35256949
PMID:35271311	PMID:35384245	PMID:35439318	PMID:35831314	PMID:35944360	PMID:36057605	PMID:36215168	PMID:36244648	PMID:36574265	PMID:36931259	PMID:36976175	PMID:37167062
PMID:37506885	PMID:37616343	PMID:37827155	PMID:38117590	PMID:38334954	PMID:38697112	PMID:38777146	PMID:38824479	PMID:38891874	PMID:39231216

Genomics

Comparative Map Data

TBC1D10B
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	16	30,357,102 - 30,370,494 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	16	30,357,102 - 30,370,494 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	16	30,368,423 - 30,381,815 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	16	30,275,924 - 30,288,402 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	16	29,917,190 - 29,930,290 (+)	NCBI		Celera
Cytogenetic Map	16	p11.2	NCBI
HuRef	16	27,930,553 - 27,943,287 (-)	NCBI		HuRef
CHM1_1	16	31,685,477 - 31,698,576 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	16	30,743,304 - 30,756,697 (-)	NCBI		T2T-CHM13v2.0

Tbc1d10b
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	7	126,796,631 - 126,807,640 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	7	126,796,631 - 126,807,640 (-)	Ensembl		GRCm39 Ensembl
GRCm38	7	127,197,459 - 127,208,468 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	7	127,197,459 - 127,208,468 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	7	134,340,973 - 134,351,982 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	7	126,988,613 - 126,999,616 (-)	NCBI		MGSCv36	mm8
Celera	7	127,046,243 - 127,057,060 (-)	NCBI		Celera
Cytogenetic Map	7	F3	NCBI
cM Map	7	69.38	NCBI

Tbc1d10b
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	1	191,245,472 - 191,257,128 (-)	NCBI		GRCr8
mRatBN7.2	1	181,814,972 - 181,826,628 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	1	181,814,972 - 181,826,628 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	1	190,165,867 - 190,177,524 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	1	197,351,955 - 197,363,612 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	1	190,020,492 - 190,032,149 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	1	198,641,018 - 198,652,674 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	1	198,641,018 - 198,652,674 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	1	205,634,749 - 205,646,405 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	1	186,457,436 - 186,468,587 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	1	186,607,319 - 186,618,468 (-)	NCBI
Celera	1	179,466,654 - 179,478,309 (-)	NCBI		Celera
Cytogenetic Map	1	q37	NCBI

Tbc1d10b
(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_004955493	7,286,837 - 7,298,968 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955493	7,286,030 - 7,298,223 (-)	NCBI	ChiLan1.0	ChiLan1.0

TBC1D10B
(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	18	33,555,948 - 33,575,719 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	16	38,363,764 - 38,377,170 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	16	24,599,204 - 24,612,612 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	16	30,729,630 - 30,742,090 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	16	30,730,474 - 30,742,095 (-)	Ensembl	panpan1.1		panPan2

TBC1D10B
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	6	17,723,041 - 17,735,291 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	6	17,726,289 - 17,735,410 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	6	19,300,560 - 19,312,394 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	6	17,857,415 - 17,869,482 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	6	17,857,387 - 17,869,475 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	6	17,657,616 - 17,669,452 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	6	17,573,043 - 17,584,876 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	6	17,888,723 - 17,900,562 (+)	NCBI		UU_Cfam_GSD_1.0

Tbc1d10b
(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_024409344	124,732,447 - 124,743,267 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936501	12,831,161 - 12,840,870 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936501	12,830,307 - 12,841,372 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

TBC1D10B
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	3	17,944,629 - 17,956,069 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	3	17,944,911 - 17,956,069 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	3	18,383,576 - 18,394,735 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

TBC1D10B
(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	5	27,033,341 - 27,047,635 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	5	27,031,651 - 27,047,486 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666068	2,473,708 - 2,488,617 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Tbc1d10b
(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_004624782	13,517,515 - 13,544,458 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624782	13,516,754 - 13,544,543 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in TBC1D10B
60 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 16p12.2-11.2(chr16:23047969-30632245)x3	copy number gain	See cases [RCV000052401]	Chr16:23047969..30632245 [GRCh38] Chr16:23059290..30643566 [GRCh37] Chr16:22966791..30551067 [NCBI36] Chr16:16p12.2-11.2	pathogenic
GRCh38/hg38 16p11.2(chr16:30359229-30570499)x3	copy number gain	See cases [RCV000053863]	Chr16:30359229..30570499 [GRCh38] Chr16:30370550..30581820 [GRCh37] Chr16:30278051..30489321 [NCBI36] Chr16:16p11.2	uncertain significance
GRCh38/hg38 16p11.2(chr16:29909613-31438697)x3	copy number gain	See cases [RCV000135339]	Chr16:29909613..31438697 [GRCh38] Chr16:29920934..31450018 [GRCh37] Chr16:29828435..31357519 [NCBI36] Chr16:16p11.2	pathogenic
GRCh38/hg38 16p11.2(chr16:29581462-30691912)x1	copy number loss	See cases [RCV000135589]	Chr16:29581462..30691912 [GRCh38] Chr16:29592783..30703233 [GRCh37] Chr16:29500284..30610734 [NCBI36] Chr16:16p11.2	pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:27311746-31193406)x3	copy number gain	See cases [RCV000140341]	Chr16:27311746..31193406 [GRCh38] Chr16:27323067..31204727 [GRCh37] Chr16:27230568..31112228 [NCBI36] Chr16:16p12.1-11.2	pathogenic
GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3	copy number gain	See cases [RCV000141141]	Chr16:23752047..31943755 [GRCh38] Chr16:23763368..31955076 [GRCh37] Chr16:23670869..31862577 [NCBI36] Chr16:16p12.2-11.2	pathogenic
GRCh38/hg38 16p11.2(chr16:29892937-30433124)x3	copy number gain	See cases [RCV000143385]	Chr16:29892937..30433124 [GRCh38] Chr16:29904258..30444445 [GRCh37] Chr16:29811759..30351946 [NCBI36] Chr16:16p11.2	pathogenic\|likely benign
GRCh37/hg19 16p11.2(chr16:29841933-30381027)x3	copy number gain	Breast ductal adenocarcinoma [RCV000207131]	Chr16:29841933..30381027 [GRCh37] Chr16:16p11.2	uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	copy number gain	Breast ductal adenocarcinoma [RCV000207053]	Chr16:1279324..31926800 [GRCh37] Chr16:16p13.3-11.2	uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	copy number gain	See cases [RCV000446684]	Chr16:69193..90274381 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16p11.2(chr16:28826162-29043901)x1	copy number loss	See cases [RCV000448084]	Chr16:28826162..29043901 [GRCh37] Chr16:16p11.2	likely pathogenic
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	copy number gain	See cases [RCV000511622]	Chr16:9273328..89548493 [GRCh37] Chr16:16p13.2-q24.3	uncertain significance
GRCh37/hg19 16p12.2-11.2(chr16:21596299-30399167)x1	copy number loss	See cases [RCV000511271]	Chr16:21596299..30399167 [GRCh37] Chr16:16p12.2-11.2	pathogenic
maternal UPD(16p)	complex	Hemimegalencephaly [RCV000494707]	Chr16:1280042..33710558 [GRCh37] Chr16:16p13.3-11.2	pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	copy number gain	See cases [RCV000511296]	Chr16:85881..90155062 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	copy number gain	See cases [RCV000512138]	Chr16:85881..90155062 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3	copy number gain	not provided [RCV000738918]	Chr16:88165..90274695 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3	copy number gain	not provided [RCV000738915]	Chr16:61451..90294632 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3	copy number gain	not provided [RCV000738917]	Chr16:88165..90163275 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16p11.2(chr16:30376269-30420851)x1	copy number loss	not provided [RCV000751645]	Chr16:30376269..30420851 [GRCh37] Chr16:16p11.2	benign
GRCh37/hg19 16p11.2(chr16:30376486-30382642)x0	copy number loss	not provided [RCV000751646]	Chr16:30376486..30382642 [GRCh37] Chr16:16p11.2	benign
GRCh37/hg19 16p11.2(chr16:30380486-30381633)x1	copy number loss	not provided [RCV000751647]	Chr16:30380486..30381633 [GRCh37] Chr16:16p11.2	benign
GRCh37/hg19 16p11.2(chr16:30380486-30381735)x1	copy number loss	not provided [RCV000751648]	Chr16:30380486..30381735 [GRCh37] Chr16:16p11.2	benign
GRCh37/hg19 16p11.2(chr16:30380872-30381633)x1	copy number loss	not provided [RCV000751649]	Chr16:30380872..30381633 [GRCh37] Chr16:16p11.2	benign
GRCh37/hg19 16p11.2(chr16:30380872-30381735)x1	copy number loss	not provided [RCV000751650]	Chr16:30380872..30381735 [GRCh37] Chr16:16p11.2	benign
GRCh37/hg19 16p11.2(chr16:30380872-30382642)x1	copy number loss	not provided [RCV000751651]	Chr16:30380872..30382642 [GRCh37] Chr16:16p11.2	benign
GRCh37/hg19 16p11.2(chr16:30380872-30385837)x1	copy number loss	not provided [RCV000751652]	Chr16:30380872..30385837 [GRCh37] Chr16:16p11.2	benign
GRCh37/hg19 16p11.2(chr16:30380872-30385953)x1	copy number loss	not provided [RCV000751653]	Chr16:30380872..30385953 [GRCh37] Chr16:16p11.2	benign
GRCh37/hg19 16p11.2(chr16:30380970-30381735)x1	copy number loss	not provided [RCV000751654]	Chr16:30380970..30381735 [GRCh37] Chr16:16p11.2	benign
GRCh37/hg19 16p11.2(chr16:30381072-30382642)x1	copy number loss	not provided [RCV000751655]	Chr16:30381072..30382642 [GRCh37] Chr16:16p11.2	benign
GRCh37/hg19 16p11.2(chr16:30381174-30381735)x1	copy number loss	not provided [RCV000751656]	Chr16:30381174..30381735 [GRCh37] Chr16:16p11.2	benign
GRCh37/hg19 16p11.2(chr16:30381378-30382642)x1	copy number loss	not provided [RCV000751657]	Chr16:30381378..30382642 [GRCh37] Chr16:16p11.2	benign
NM_015527.4(TBC1D10B):c.1942C>T (p.Arg648Trp)	single nucleotide variant	not specified [RCV004290583]	Chr16:30358429 [GRCh38] Chr16:30369750 [GRCh37] Chr16:16p11.2	uncertain significance
NM_015527.4(TBC1D10B):c.827T>C (p.Met276Thr)	single nucleotide variant	not specified [RCV004304668]	Chr16:30369357 [GRCh38] Chr16:30380678 [GRCh37] Chr16:16p11.2	uncertain significance
NM_015527.4(TBC1D10B):c.1936C>T (p.Arg646Cys)	single nucleotide variant	not specified [RCV004308076]	Chr16:30358435 [GRCh38] Chr16:30369756 [GRCh37] Chr16:16p11.2	uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3	copy number gain	not provided [RCV002472599]	Chr16:4380767..30445350 [GRCh37] Chr16:16p13.3-11.2	pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	copy number gain	Microcephaly [RCV001252948]	Chr16:5805001..34230001 [GRCh37] Chr16:16p13.3-11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:30350747-31905898)x3	copy number gain	not provided [RCV001258619]	Chr16:30350747..31905898 [GRCh37] Chr16:16p11.2	uncertain significance
NM_015527.4(TBC1D10B):c.1773G>A (p.Met591Ile)	single nucleotide variant	not specified [RCV001733682]	Chr16:30358687 [GRCh38] Chr16:30370008 [GRCh37] Chr16:16p11.2	uncertain significance
GRCh37/hg19 16p11.2(chr16:29808153-30750270)x3	copy number gain	Chromosome 16p11.2 duplication syndrome [RCV001801218]	Chr16:29808153..30750270 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:29974415-30596982)x1	copy number loss	Distal 16p11.2 microdeletion syndrome [RCV001801174]	Chr16:29974415..30596982 [GRCh37] Chr16:16p11.2	likely pathogenic
NM_015527.4(TBC1D10B):c.70C>G (p.Pro24Ala)	single nucleotide variant	not specified [RCV004322895]	Chr16:30370114 [GRCh38] Chr16:30381435 [GRCh37] Chr16:16p11.2	uncertain significance
NM_015527.4(TBC1D10B):c.2408G>A (p.Arg803Gln)	single nucleotide variant	not specified [RCV004297723]	Chr16:30357963 [GRCh38] Chr16:30369284 [GRCh37] Chr16:16p11.2	uncertain significance
NM_015527.4(TBC1D10B):c.2339C>T (p.Ser780Leu)	single nucleotide variant	not specified [RCV004144033]	Chr16:30358032 [GRCh38] Chr16:30369353 [GRCh37] Chr16:16p11.2	uncertain significance
NM_015527.4(TBC1D10B):c.77G>T (p.Arg26Leu)	single nucleotide variant	not specified [RCV004222830]	Chr16:30370107 [GRCh38] Chr16:30381428 [GRCh37] Chr16:16p11.2	uncertain significance
NM_015527.4(TBC1D10B):c.140C>T (p.Ser47Leu)	single nucleotide variant	not specified [RCV004236175]	Chr16:30370044 [GRCh38] Chr16:30381365 [GRCh37] Chr16:16p11.2	uncertain significance
NM_015527.4(TBC1D10B):c.1529G>A (p.Arg510Gln)	single nucleotide variant	not specified [RCV004151694]	Chr16:30359285 [GRCh38] Chr16:30370606 [GRCh37] Chr16:16p11.2	uncertain significance
NM_015527.4(TBC1D10B):c.1734G>C (p.Glu578Asp)	single nucleotide variant	not specified [RCV004172969]	Chr16:30358726 [GRCh38] Chr16:30370047 [GRCh37] Chr16:16p11.2	uncertain significance
NM_015527.4(TBC1D10B):c.1763A>G (p.Gln588Arg)	single nucleotide variant	not specified [RCV004182149]	Chr16:30358697 [GRCh38] Chr16:30370018 [GRCh37] Chr16:16p11.2	uncertain significance
NM_015527.4(TBC1D10B):c.146C>T (p.Pro49Leu)	single nucleotide variant	not specified [RCV004119622]	Chr16:30370038 [GRCh38] Chr16:30381359 [GRCh37] Chr16:16p11.2	uncertain significance
NM_015527.4(TBC1D10B):c.2047G>A (p.Val683Ile)	single nucleotide variant	not specified [RCV004184247]	Chr16:30358324 [GRCh38] Chr16:30369645 [GRCh37] Chr16:16p11.2	uncertain significance
NM_015527.4(TBC1D10B):c.374C>T (p.Ala125Val)	single nucleotide variant	not specified [RCV004182023]	Chr16:30369810 [GRCh38] Chr16:30381131 [GRCh37] Chr16:16p11.2	uncertain significance
NM_015527.4(TBC1D10B):c.80G>A (p.Gly27Asp)	single nucleotide variant	not specified [RCV004230806]	Chr16:30370104 [GRCh38] Chr16:30381425 [GRCh37] Chr16:16p11.2	uncertain significance
NM_015527.4(TBC1D10B):c.411G>C (p.Glu137Asp)	single nucleotide variant	not specified [RCV004079556]	Chr16:30369773 [GRCh38] Chr16:30381094 [GRCh37] Chr16:16p11.2	uncertain significance
NM_015527.4(TBC1D10B):c.1508C>T (p.Pro503Leu)	single nucleotide variant	not specified [RCV004217546]	Chr16:30359306 [GRCh38] Chr16:30370627 [GRCh37] Chr16:16p11.2	uncertain significance
NM_015527.4(TBC1D10B):c.76C>T (p.Arg26Trp)	single nucleotide variant	not specified [RCV004086223]	Chr16:30370108 [GRCh38] Chr16:30381429 [GRCh37] Chr16:16p11.2	uncertain significance
NM_015527.4(TBC1D10B):c.2225G>A (p.Arg742Gln)	single nucleotide variant	not specified [RCV004186275]	Chr16:30358146 [GRCh38] Chr16:30369467 [GRCh37] Chr16:16p11.2	likely benign
NM_015527.4(TBC1D10B):c.2330G>A (p.Arg777Gln)	single nucleotide variant	not specified [RCV004088423]	Chr16:30358041 [GRCh38] Chr16:30369362 [GRCh37] Chr16:16p11.2	uncertain significance
NM_015527.4(TBC1D10B):c.2224C>T (p.Arg742Trp)	single nucleotide variant	not specified [RCV004184624]	Chr16:30358147 [GRCh38] Chr16:30369468 [GRCh37] Chr16:16p11.2	uncertain significance
NM_015527.4(TBC1D10B):c.1751G>A (p.Arg584His)	single nucleotide variant	not specified [RCV004087618]	Chr16:30358709 [GRCh38] Chr16:30370030 [GRCh37] Chr16:16p11.2	uncertain significance
NM_015527.4(TBC1D10B):c.2182C>T (p.Arg728Trp)	single nucleotide variant	not specified [RCV004208074]	Chr16:30358189 [GRCh38] Chr16:30369510 [GRCh37] Chr16:16p11.2	uncertain significance
NM_015527.4(TBC1D10B):c.2215G>A (p.Glu739Lys)	single nucleotide variant	not specified [RCV004089456]	Chr16:30358156 [GRCh38] Chr16:30369477 [GRCh37] Chr16:16p11.2	uncertain significance
NM_015527.4(TBC1D10B):c.1805A>G (p.Asn602Ser)	single nucleotide variant	not specified [RCV004093881]	Chr16:30358566 [GRCh38] Chr16:30369887 [GRCh37] Chr16:16p11.2	uncertain significance
NM_015527.4(TBC1D10B):c.1607C>T (p.Ser536Leu)	single nucleotide variant	not specified [RCV004279938]	Chr16:30359207 [GRCh38] Chr16:30370528 [GRCh37] Chr16:16p11.2	uncertain significance
NM_015527.4(TBC1D10B):c.434G>T (p.Gly145Val)	single nucleotide variant	not specified [RCV004281016]	Chr16:30369750 [GRCh38] Chr16:30381071 [GRCh37] Chr16:16p11.2	uncertain significance
NM_015527.4(TBC1D10B):c.1798G>A (p.Val600Met)	single nucleotide variant	not specified [RCV004281285]	Chr16:30358573 [GRCh38] Chr16:30369894 [GRCh37] Chr16:16p11.2	uncertain significance
NM_015527.4(TBC1D10B):c.2362C>T (p.Pro788Ser)	single nucleotide variant	not specified [RCV004256581]	Chr16:30358009 [GRCh38] Chr16:30369330 [GRCh37] Chr16:16p11.2	uncertain significance
NM_015527.4(TBC1D10B):c.2017G>T (p.Ala673Ser)	single nucleotide variant	not specified [RCV004260242]	Chr16:30358354 [GRCh38] Chr16:30369675 [GRCh37] Chr16:16p11.2	uncertain significance
NM_015527.4(TBC1D10B):c.2357A>G (p.Asp786Gly)	single nucleotide variant	not specified [RCV004273281]	Chr16:30358014 [GRCh38] Chr16:30369335 [GRCh37] Chr16:16p11.2	uncertain significance
NM_015527.4(TBC1D10B):c.2342T>C (p.Leu781Pro)	single nucleotide variant	not specified [RCV004329862]	Chr16:30358029 [GRCh38] Chr16:30369350 [GRCh37] Chr16:16p11.2	uncertain significance
NM_015527.4(TBC1D10B):c.2284A>G (p.Lys762Glu)	single nucleotide variant	not specified [RCV004329864]	Chr16:30358087 [GRCh38] Chr16:30369408 [GRCh37] Chr16:16p11.2	uncertain significance
NM_015527.4(TBC1D10B):c.1150C>G (p.Pro384Ala)	single nucleotide variant	not specified [RCV004359038]	Chr16:30365119 [GRCh38] Chr16:30376440 [GRCh37] Chr16:16p11.2	uncertain significance
NM_015527.4(TBC1D10B):c.310C>A (p.Gln104Lys)	single nucleotide variant	not specified [RCV004355583]	Chr16:30369874 [GRCh38] Chr16:30381195 [GRCh37] Chr16:16p11.2	uncertain significance
NM_015527.4(TBC1D10B):c.2225G>T (p.Arg742Leu)	single nucleotide variant	not specified [RCV004336305]	Chr16:30358146 [GRCh38] Chr16:30369467 [GRCh37] Chr16:16p11.2	uncertain significance
NM_015527.4(TBC1D10B):c.1939C>T (p.Arg647Trp)	single nucleotide variant	not specified [RCV004336902]	Chr16:30358432 [GRCh38] Chr16:30369753 [GRCh37] Chr16:16p11.2	uncertain significance
NM_015527.4(TBC1D10B):c.49G>C (p.Ala17Pro)	single nucleotide variant	not specified [RCV004337569]	Chr16:30370135 [GRCh38] Chr16:30381456 [GRCh37] Chr16:16p11.2	uncertain significance
NM_015527.4(TBC1D10B):c.1194G>C (p.Lys398Asn)	single nucleotide variant	not specified [RCV004347862]	Chr16:30364977 [GRCh38] Chr16:30376298 [GRCh37] Chr16:16p11.2	uncertain significance
NM_015527.4(TBC1D10B):c.2044C>A (p.Pro682Thr)	single nucleotide variant	not specified [RCV004471768]	Chr16:30358327 [GRCh38] Chr16:30369648 [GRCh37] Chr16:16p11.2	uncertain significance
NM_015527.4(TBC1D10B):c.2164C>T (p.Arg722Trp)	single nucleotide variant	not specified [RCV004471769]	Chr16:30358207 [GRCh38] Chr16:30369528 [GRCh37] Chr16:16p11.2	uncertain significance
NM_015527.4(TBC1D10B):c.2203C>T (p.Arg735Trp)	single nucleotide variant	not specified [RCV004471770]	Chr16:30358168 [GRCh38] Chr16:30369489 [GRCh37] Chr16:16p11.2	uncertain significance
NM_015527.4(TBC1D10B):c.2356G>A (p.Asp786Asn)	single nucleotide variant	not specified [RCV004471772]	Chr16:30358015 [GRCh38] Chr16:30369336 [GRCh37] Chr16:16p11.2	uncertain significance
NM_015527.4(TBC1D10B):c.344C>T (p.Ala115Val)	single nucleotide variant	not specified [RCV004471774]	Chr16:30369840 [GRCh38] Chr16:30381161 [GRCh37] Chr16:16p11.2	uncertain significance
NM_015527.4(TBC1D10B):c.485C>T (p.Pro162Leu)	single nucleotide variant	not specified [RCV004471777]	Chr16:30369699 [GRCh38] Chr16:30381020 [GRCh37] Chr16:16p11.2	uncertain significance
NM_015527.4(TBC1D10B):c.506C>T (p.Pro169Leu)	single nucleotide variant	not specified [RCV004471779]	Chr16:30369678 [GRCh38] Chr16:30380999 [GRCh37] Chr16:16p11.2	uncertain significance
NM_015527.4(TBC1D10B):c.659C>T (p.Pro220Leu)	single nucleotide variant	not specified [RCV004471782]	Chr16:30369525 [GRCh38] Chr16:30380846 [GRCh37] Chr16:16p11.2	uncertain significance
NM_015527.4(TBC1D10B):c.1382C>T (p.Ala461Val)	single nucleotide variant	not specified [RCV004471762]	Chr16:30359731 [GRCh38] Chr16:30371052 [GRCh37] Chr16:16p11.2	uncertain significance
NM_015527.4(TBC1D10B):c.1681C>T (p.Arg561Cys)	single nucleotide variant	not specified [RCV004471763]	Chr16:30358779 [GRCh38] Chr16:30370100 [GRCh37] Chr16:16p11.2	uncertain significance
NM_015527.4(TBC1D10B):c.1822G>C (p.Ala608Pro)	single nucleotide variant	not specified [RCV004471764]	Chr16:30358549 [GRCh38] Chr16:30369870 [GRCh37] Chr16:16p11.2	uncertain significance
NM_015527.4(TBC1D10B):c.583G>A (p.Gly195Arg)	single nucleotide variant	not specified [RCV004471781]	Chr16:30369601 [GRCh38] Chr16:30380922 [GRCh37] Chr16:16p11.2	uncertain significance
NM_015527.4(TBC1D10B):c.242C>G (p.Ala81Gly)	single nucleotide variant	not specified [RCV004471773]	Chr16:30369942 [GRCh38] Chr16:30381263 [GRCh37] Chr16:16p11.2	uncertain significance
NM_015527.4(TBC1D10B):c.1358C>T (p.Ala453Val)	single nucleotide variant	not specified [RCV004471761]	Chr16:30359755 [GRCh38] Chr16:30371076 [GRCh37] Chr16:16p11.2	uncertain significance
NM_015527.4(TBC1D10B):c.1937G>A (p.Arg646His)	single nucleotide variant	not specified [RCV004471765]	Chr16:30358434 [GRCh38] Chr16:30369755 [GRCh37] Chr16:16p11.2	uncertain significance
NM_015527.4(TBC1D10B):c.2041C>T (p.Pro681Ser)	single nucleotide variant	not specified [RCV004471767]	Chr16:30358330 [GRCh38] Chr16:30369651 [GRCh37] Chr16:16p11.2	uncertain significance
NM_015527.4(TBC1D10B):c.2283G>C (p.Glu761Asp)	single nucleotide variant	not specified [RCV004471771]	Chr16:30358088 [GRCh38] Chr16:30369409 [GRCh37] Chr16:16p11.2	uncertain significance
NM_015527.4(TBC1D10B):c.34C>T (p.Pro12Ser)	single nucleotide variant	not specified [RCV004471775]	Chr16:30370150 [GRCh38] Chr16:30381471 [GRCh37] Chr16:16p11.2	uncertain significance
NM_015527.4(TBC1D10B):c.44A>G (p.His15Arg)	single nucleotide variant	not specified [RCV004471776]	Chr16:30370140 [GRCh38] Chr16:30381461 [GRCh37] Chr16:16p11.2	uncertain significance
NM_015527.4(TBC1D10B):c.532A>G (p.Thr178Ala)	single nucleotide variant	not specified [RCV004471780]	Chr16:30369652 [GRCh38] Chr16:30380973 [GRCh37] Chr16:16p11.2	uncertain significance
NC_000016.9:g.(?_28889993)_(31202759_?)del	deletion	Dilated Cardiomyopathy, Dominant [RCV004582801]	Chr16:28889993..31202759 [GRCh37] Chr16:16p11.2	uncertain significance
NM_015527.4(TBC1D10B):c.2216A>G (p.Glu739Gly)	single nucleotide variant	not specified [RCV004681993]	Chr16:30358155 [GRCh38] Chr16:30369476 [GRCh37] Chr16:16p11.2	uncertain significance
NM_015527.4(TBC1D10B):c.169G>C (p.Glu57Gln)	single nucleotide variant	not specified [RCV004673345]	Chr16:30370015 [GRCh38] Chr16:30381336 [GRCh37] Chr16:16p11.2	uncertain significance
NM_015527.4(TBC1D10B):c.2165G>A (p.Arg722Gln)	single nucleotide variant	not specified [RCV004673346]	Chr16:30358206 [GRCh38] Chr16:30369527 [GRCh37] Chr16:16p11.2	uncertain significance
NM_015527.4(TBC1D10B):c.1175G>A (p.Arg392Gln)	single nucleotide variant	not specified [RCV004673347]	Chr16:30364996 [GRCh38] Chr16:30376317 [GRCh37] Chr16:16p11.2	uncertain significance
NM_015527.4(TBC1D10B):c.268G>A (p.Val90Met)	single nucleotide variant	not specified [RCV004673348]	Chr16:30369916 [GRCh38] Chr16:30381237 [GRCh37] Chr16:16p11.2	uncertain significance
NM_015527.4(TBC1D10B):c.828G>A (p.Met276Ile)	single nucleotide variant	not specified [RCV004673349]	Chr16:30369356 [GRCh38] Chr16:30380677 [GRCh37] Chr16:16p11.2	uncertain significance
NM_015527.4(TBC1D10B):c.100G>A (p.Val34Met)	single nucleotide variant	not specified [RCV004673351]	Chr16:30370084 [GRCh38] Chr16:30381405 [GRCh37] Chr16:16p11.2	uncertain significance
NM_015527.4(TBC1D10B):c.1130A>G (p.Lys377Arg)	single nucleotide variant	not specified [RCV004673352]	Chr16:30365139 [GRCh38] Chr16:30376460 [GRCh37] Chr16:16p11.2	uncertain significance

miRNA Target Status

Confirmed Target Of

miRNA Gene	Mature miRNA	Method Name	Result Type	Data Type	Support Type	PMID
MIR151A	hsa-miR-151a-5p	Mirtarbase	external_info	CLASH	Functional MTI (Weak)	23622248

Predicted Target Of

	Summary Value
Count of predictions:	2655
Count of miRNA genes:	914
Interacting mature miRNAs:	1160
Transcripts:	ENST00000409939, ENST00000464644, ENST00000475650, ENST00000475872, ENST00000478158, ENST00000490703, ENST00000566671
Prediction methods:	Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
407169845	GWAS818821_H	brain connectivity measurement QTL GWAS818821 (human)		1e-09	brain connectivity measurement		16	30369165	30369166	Human
407117991	GWAS766967_H	electrocardiography QTL GWAS766967 (human)		9e-09	electrocardiography		16	30369165	30369166	Human
407049337	GWAS698313_H	body mass index QTL GWAS698313 (human)		4e-20	body mass index	body mass index (BMI) (CMO:0000105)	16	30365370	30365371	Human
407117992	GWAS766968_H	electrocardiography QTL GWAS766968 (human)		3e-08	electrocardiography		16	30369165	30369166	Human
407174937	GWAS823913_H	brain connectivity measurement QTL GWAS823913 (human)		1e-08	brain connectivity measurement		16	30369165	30369166	Human

Markers in Region

SHGC-60983

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	10	101,412,033 - 101,412,140	UniSTS	GRCh37
GRCh37	16	30,368,527 - 30,368,635	UniSTS	GRCh37
Build 36	10	101,402,023 - 101,402,130	RGD	NCBI36
Celera	10	95,149,437 - 95,149,544	RGD
Celera	16	29,930,077 - 29,930,185	UniSTS
Cytogenetic Map	16	p11.2	UniSTS
HuRef	16	27,930,658 - 27,930,766	UniSTS
HuRef	10	95,039,472 - 95,039,579	UniSTS

SHGC-61105

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	30,368,539 - 30,368,701	UniSTS	GRCh37
Build 36	16	30,276,040 - 30,276,202	RGD	NCBI36
Celera	16	29,930,011 - 29,930,173	RGD
Cytogenetic Map	16	p11.2	UniSTS
HuRef	16	27,930,670 - 27,930,832	UniSTS

Expression

RNA-SEQ Expression

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2439	2788	2253	4974	1726	2351	6	624	1951	465	2270	7306	6472	53	3734	1	852	1744	1617	175	1

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_015527	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011545789	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011545790	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054380016	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB449895	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC106782	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC243825	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF370370	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AI672923	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK002101	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK023192	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL117408	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY007150	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC028737	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC038994	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC050523	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC063112	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC072453	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC093814	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC093816	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC098419	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BY795947	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471192	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068262	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000409939 ⟹ ENSP00000386538

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	30,357,102 - 30,370,494 (-)	Ensembl

Ensembl Acc Id:

ENST00000464644

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	30,359,750 - 30,365,881 (-)	Ensembl

Ensembl Acc Id:

ENST00000475650

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	30,357,102 - 30,359,674 (-)	Ensembl

Ensembl Acc Id:

ENST00000475872

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	30,358,776 - 30,360,176 (-)	Ensembl

Ensembl Acc Id:

ENST00000478158

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	30,357,107 - 30,368,007 (-)	Ensembl

Ensembl Acc Id:

ENST00000490703 ⟹ ENSP00000456663

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	30,358,094 - 30,365,212 (-)	Ensembl

Ensembl Acc Id:

ENST00000566671

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	30,359,184 - 30,360,043 (-)	Ensembl

RefSeq Acc Id:

NM_015527 ⟹ NP_056342

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	30,357,102 - 30,370,494 (-)	NCBI
GRCh37	16	30,368,422 - 30,381,522 (-)	RGD
Build 36	16	30,275,924 - 30,288,402 (-)	NCBI Archive
Celera	16	29,917,190 - 29,930,290 (+)	RGD
HuRef	16	27,930,553 - 27,943,287 (-)	RGD
CHM1_1	16	31,685,477 - 31,698,576 (-)	NCBI
T2T-CHM13v2.0	16	30,743,304 - 30,756,697 (-)	NCBI

Sequence:

show sequence

GAGACGCTGGCGCGGAGCCGGCTCTGCGGCGTGTGCGCAGGCGCGAGGTCGGCGGCTCGCCCCC
AAGCAGGAGGGAGGGGGCGGTGGCGAGAGCGCGCGAGGGGGTGAGAGGGCTCGAGAGAGACCCC
GGCGCGCGGCGCCCCCCGACCCCTGCCCCGCCTCTGCGCGCCCAGCGGCCGCTCCGCCCCCGGC
GCGCGCCGAGCCGCGCCCTTCGCCCTCTCCCCTTTCTCGGCTGGCCTCGCCGGGAGGCCCGAGG
GGCGGCGCCTTCTGCGGCCTCCCCGGCGGGGGGATGTGAGGGGCGGCCCGCGGCCATGGAGACG
GGCACGGCGCCCCTGGTGGCCCCGCCGCGCCGTCATGGCGCCCCCGCGGCCCCCTCGCCGCCGC
CCCGGGGTTCCCGGGCCGGGCCCGTCGTGGTGGTGGCTCCGGGACCTCCAGTGACTACGGCCAC
TTCGGCCCCCGTCACCCTGGTGGCCCCCGGGGAGGCGCGGCCCGCCTGGGTCCCGGGGTCGGCC
GAGACCTCTGCTCCGGCCCCGGCCCCAGCCCCGGCCCCAGCCCCGGCTGTCACGGGCAGCACGG
TGGTGGTGCTGACCCTGGAGGCCTCGCCCGAAGCCCCAAAGCCGCAGCTCCCCTCCGGCCCGGA
ATCCCCAGAGCCCGCGGCAGTGGCTGGAGTTGAGACATCGAGGGCTCTGGCCGCAGGGGCAGAC
TCGCCGAAGACAGAGGAGGCTCGACCCTCACCCGCCCCAGGACCAGGGACCCCCACCGGGACCC
CTACCAGGACCCCTTCCAGAACGGCTCCTGGTGCCCTGACCGCCAAACCCCCGCTTGCCCCCAA
GCCGGGAACCACAGTGGCCTCAGGAGTGACTGCACGGAGTGCATCAGGACAAGTGACAGGTGGG
CATGGAGCTGCCGCAGCAACATCAGCATCAGCAGGACAGGCTCCTGAGGACCCCTCAGGCCCTG
GCACAGGCCCCTCTGGGACTTGTGAGGCTCCGGTAGCTGTCGTGACCGTGACCCCAGCTCCGGA
GCCTGCTGAAAACTCTCAAGACCTGGGCTCCACGTCCAGCCTGGGACCTGGCATCTCTGGGCCT
CGAGGGCAGGCCCCGGACACGCTGAGTTACTTGGACTCCGTGAGCCTCATGTCTGGGACCTTGG
AGTCCTTGGCGGATGATGTGAGCTCCATGGGCTCAGATTCAGAGATAAACGGGCTGGCCCTGCG
CAAGACGGACAAGTATGGCTTCCTTGGGGGCAGCCAGTACTCGGGCAGCCTAGAGAGCTCCATT
CCCGTGGACGTGGCTCGGCAGCGGGAGCTCAAATGGCTGGACATGTTCAGTAACTGGGATAAGT
GGCTGTCACGGCGATTCCAGAAGGTGAAGCTGCGCTGCCGGAAGGGGATCCCCTCCTCTCTCAG
AGCCAAAGCCTGGCAGTACCTGTCTAATAGCAAGGAACTTCTGGAGCAGAACCCAGGAAAGTTT
GAGGAGCTGGAACGGGCTCCTGGGGACCCCAAGTGGCTGGATGTGATTGAGAAGGACCTGCACC
GCCAGTTCCCTTTCCACGAGATGTTTGCTGCTCGAGGGGGGCATGGGCAACAGGACCTGTACCG
AATCCTGAAGGCCTACACCATCTACCGGCCTGACGAGGGTTACTGCCAGGCCCAGGCCCCCGTG
GCTGCGGTCCTGCTCATGCACATGCCTGCGGAGCAAGCCTTTTGGTGCCTGGTGCAGATCTGCG
ACAAGTACCTCCCAGGTTACTACAGTGCAGGGCTGGAGGCCATTCAGCTGGACGGGGAGATCTT
TTTTGCACTCCTGCGCCGGGCCTCCCCGCTGGCGCATCGCCACCTGCGGCGGCAGCGCATTGAC
CCTGTGCTCTACATGACGGAGTGGTTCATGTGCATCTTCGCCCGCACCCTGCCCTGGGCGTCGG
TGCTGCGTGTCTGGGACATGTTTTTCTGTGAAGGCGTTAAGATCATCTTCCGGGTGGCCCTGGT
CCTGCTGCGCCACACGCTGGGCTCAGTGGAGAAGCTGCGCTCCTGCCAAGGCATGTATGAGACC
ATGGAGCAGCTGCGTAACCTGCCCCAGCAGTGCATGCAGGAAGACTTCCTGGTGCATGAGGTGA
CCAATCTGCCGGTGACAGAAGCACTGATTGAGCGGGAGAATGCAGCCCAGCTCAAGAAGTGGCG
GGAAACGCGGGGGGAGCTGCAGTATCGGCCCTCACGGCGACTGCATGGGTCCCGGGCCATCCAC
GAGGAGCGCCGGCGGCAACAGCCACCCCTGGGCCCCTCCTCCAGCCTCCTCAGCCTCCCTGGCC
TCAAGAGCCGAGGCTCCCGGGCAGCTGGAGGGGCCCCGTCCCCGCCGCCCCCCGTCCGCAGAGC
CAGTGCTGGGCCTGCCCCAGGGCCTGTGGTCACTGCTGAGGGACTGCATCCATCCCTTCCCTCA
CCCACTGGCAATAGCACCCCCTTGGGTTCCAGCAAGGAGACCCGGAAGCAGGAGAAGGAGCGGC
AGAAACAGGAGAAGGAGCGGCAGAAACAGGAGAAGGAGCGGGAGAAGGAGCGGCAGAAGCAGGA
GAAAGAGCGAGAGAAGCAGGAAAAGGAGCGAGAGAAGCAGGAGAAGGAGCGGCAGAAGCAGGAG
AAGAAGGCTCAAGGCCGGAAGCTTTCGCTGCGTCGAAAGGCAGATGGGCCCCCAGGCCCCCATG
ATGGTGGGGACAGGCCCTCAGCCGAGGCCCGGCAGGACGCTTACTTCTGACCTCTGCCCTGGGG
CTGGACTGCATGGCCCCCCTCTTTCCCTCAGCCAAGAACAGGCCTGGCCCAAGGTGCCACCCCC
TAGCACCTTGTCAGGCTGTCCCTTGCTGGGGAAAGTGGCTTGGTTCCCCATCTCCTCGCCAGCT
GCTGATCCCTACACGGGCAGGACAGATGGGCAGCTGCAAATGAGTCTGGAGCCTCTCATCTCCC
ATGAGGCTCAGCTGGGGTCTCTGTCGCTCCTGCCCCAGTTCCCTCTGGGTCCCCTCCTAGGTGC
TGTCCTGAATGGCCCGTTGTCATCCCAGGGGTGACTCCTGGTGATGGGAGTCAGCAGTTTCAGA
TTCTTACACTCCATAGCTCCCCTTACCATGAGGTGGAGCTGGCTTCCTTTTCCCTGTCTTCAGC
CCTCCCTGTCTCCCCCACTTCCTGGCCAGGGCTCTCATTCTGGACCTGTGTTGTAATTGTGTAC
AGAGGATGGCGTTGGCCTGGGGTGGGGGTGCTCGCTTTGTCTTCTGTCCTTTGGTTCTCCTTCC
ATAATGCTCCTGTACCCAGTTTATTTAAGGGGACATGCACTGGAATAGGAAATGTCCCCCATCT
CCCTTCCTGCACCCTGCTGTGCTCCCTCCAAACCCACCTTGCTCTGTGTTCTCAGGCCCCCCTG
CTTTTGTCTCACCAGGACCCATACCTTTCACCTTGTTCCCTTCCACCCCTCCAGTTAGTCCCTA
TCTGGGTAAGGGTCTTCCCTTGAGCTCCAGGGGGTGGAACCCAATGTTTACATTCTCTTCTGTC
TCTGCCCCCACCCCATGCAGCGCTTTGAGGAATTGGAAAAGAACCTGCTGTTGTACCTGG

hide sequence

RefSeq Acc Id:

XM_011545789 ⟹ XP_011544091

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	30,357,102 - 30,370,494 (-)	NCBI

Sequence:

show sequence

GCGTGTGCGCAGGCGCGAGGTCGGCGGCTCGCCCCCAAGCAGGAGGGAGGGGGCGGTGGCGAGA
GCGCGCGAGGGGGTGAGAGGGCTCGAGAGAGACCCCGGCGCGCGGCGCCCCCCGACCCCTGCCC
CGCCTCTGCGCGCCCAGCGGCCGCTCCGCCCCCGGCGCGCGCCGAGCCGCGCCCTTCGCCCTCT
CCCCTTTCTCGGCTGGCCTCGCCGGGAGGCCCGAGGGGCGGCGCCTTCTGCGGCCTCCCCGGCG
GGGGGATGTGAGGGGCGGCCCGCGGCCATGGAGACGGGCACGGCGCCCCTGGTGGCCCCGCCGC
GCCGTCATGGCGCCCCCGCGGCCCCCTCGCCGCCGCCCCGGGGTTCCCGGGCCGGGCCCGTCGT
GGTGGTGGCTCCGGGACCTCCAGTGACTACGGCCACTTCGGCCCCCGTCACCCTGGTGGCCCCC
GGGGAGGCGCGGCCCGCCTGGGTCCCGGGGTCGGCCGAGACCTCTGCTCCGGCCCCGGCCCCAG
CCCCGGCCCCAGCCCCGGCTGTCACGGGCAGCACGGTGGTGGTGCTGACCCTGGAGGCCTCGCC
CGAAGCCCCAAAGCCGCAGCTCCCCTCCGGCCCGGAATCCCCAGAGCCCGCGGCAGTGGCTGGA
GTTGAGACATCGAGGGCTCTGGCCGCAGGGGCAGACTCGCCGAAGACAGAGGAGGCTCGACCCT
CACCCGCCCCAGGACCAGGGACCCCCACCGGGACCCCTACCAGGACCCCTTCCAGAACGGCTCC
TGGTGCCCTGACCGCCAAACCCCCGCTTGCCCCCAAGCCGGGAACCACAGTGGCCTCAGGAGTG
ACTGCACGGAGTGCATCAGGACAAGTGACAGGTGGGCATGGAGCTGCCGCAGCAACATCAGCAT
CAGCAGGACAGGCTCCTGAGGACCCCTCAGGCCCTGGCACAGGCCCCTCTGGGACTTGTGAGGC
TCCGGTAGCTGTCGTGACCGTGACCCCAGCTCCGGAGCCTGCTGAAAACTCTCAAGACCTGGGC
TCCACGTCCAGCCTGGGACCTGGCATCTCTGGGCCTCGAGGGCAGGCCCCGGACACGCTGAGTT
ACTTGGACTCCGTGAGCCTCATGTCTGGGACCTTGGAGTCCTTGGCGGATGATGTGAGCTCCAT
GGGCTCAGATTCAGAGATAAACGGGCTGGCCCTGCGCAAGACGGACAAGTATGGCTTCCTTGGG
GGCAGCCAGTACTCGGGCAGCCTGCAACAGGACCTGTACCGAATCCTGAAGGCCTACACCATCT
ACCGGCCTGACGAGGGTTACTGCCAGGCCCAGGCCCCCGTGGCTGCGGTCCTGCTCATGCACAT
GCCTGCGGAGCAAGCCTTTTGGTGCCTGGTGCAGATCTGCGACAAGTACCTCCCAGGTTACTAC
AGTGCAGGGCTGGAGGCCATTCAGCTGGACGGGGAGATCTTTTTTGCACTCCTGCGCCGGGCCT
CCCCGCTGGCGCATCGCCACCTGCGGCGGCAGCGCATTGACCCTGTGCTCTACATGACGGAGTG
GTTCATGTGCATCTTCGCCCGCACCCTGCCCTGGGCGTCGGTGCTGCGTGTCTGGGACATGTTT
TTCTGTGAAGGCGTTAAGATCATCTTCCGGGTGGCCCTGGTCCTGCTGCGCCACACGCTGGGCT
CAGTGGAGAAGCTGCGCTCCTGCCAAGGCATGTATGAGACCATGGAGCAGCTGCGTAACCTGCC
CCAGCAGTGCATGCAGGAAGACTTCCTGGTGCATGAGGTGACCAATCTGCCGGTGACAGAAGCA
CTGATTGAGCGGGAGAATGCAGCCCAGCTCAAGAAGTGGCGGGAAACGCGGGGGGAGCTGCAGT
ATCGGCCCTCACGGCGACTGCATGGGTCCCGGGCCATCCACGAGGAGCGCCGGCGGCAACAGCC
ACCCCTGGGCCCCTCCTCCAGCCTCCTCAGCCTCCCTGGCCTCAAGAGCCGAGGCTCCCGGGCA
GCTGGAGGGGCCCCGTCCCCGCCGCCCCCCGTCCGCAGAGCCAGTGCTGGGCCTGCCCCAGGGC
CTGTGGTCACTGCTGAGGGACTGCATCCATCCCTTCCCTCACCCACTGGCAATAGCACCCCCTT
GGGTTCCAGCAAGGAGACCCGGAAGCAGGAGAAGGAGCGGCAGAAACAGGAGAAGGAGCGGCAG
AAACAGGAGAAGGAGCGGGAGAAGGAGCGGCAGAAGCAGGAGAAAGAGCGAGAGAAGCAGGAAA
AGGAGCGAGAGAAGCAGGAGAAGGAGCGGCAGAAGCAGGAGAAGAAGGCTCAAGGCCGGAAGCT
TTCGCTGCGTCGAAAGGCAGATGGGCCCCCAGGCCCCCATGATGGTGGGGACAGGCCCTCAGCC
GAGGCCCGGCAGGACGCTTACTTCTGACCTCTGCCCTGGGGCTGGACTGCATGGCCCCCCTCTT
TCCCTCAGCCAAGAACAGGCCTGGCCCAAGGTGCCACCCCCTAGCACCTTGTCAGGCTGTCCCT
TGCTGGGGAAAGTGGCTTGGTTCCCCATCTCCTCGCCAGCTGCTGATCCCTACACGGGCAGGAC
AGATGGGCAGCTGCAAATGAGTCTGGAGCCTCTCATCTCCCATGAGGCTCAGCTGGGGTCTCTG
TCGCTCCTGCCCCAGTTCCCTCTGGGTCCCCTCCTAGGTGCTGTCCTGAATGGCCCGTTGTCAT
CCCAGGGGTGACTCCTGGTGATGGGAGTCAGCAGTTTCAGATTCTTACACTCCATAGCTCCCCT
TACCATGAGGTGGAGCTGGCTTCCTTTTCCCTGTCTTCAGCCCTCCCTGTCTCCCCCACTTCCT
GGCCAGGGCTCTCATTCTGGACCTGTGTTGTAATTGTGTACAGAGGATGGCGTTGGCCTGGGGT
GGGGGTGCTCGCTTTGTCTTCTGTCCTTTGGTTCTCCTTCCATAATGCTCCTGTACCCAGTTTA
TTTAAGGGGACATGCACTGGAATAGGAAATGTCCCCCATCTCCCTTCCTGCACCCTGCTGTGCT
CCCTCCAAACCCACCTTGCTCTGTGTTCTCAGGCCCCCCTGCTTTTGTCTCACCAGGACCCATA
CCTTTCACCTTGTTCCCTTCCACCCCTCCAGTTAGTCCCTATCTGGGTAAGGGTCTTCCCTTGA
GCTCCAGGGGGTGGAACCCAATGTTTACATTCTCTTCTGTCTCTGCCCCCACCCCATGCAGCGC
TTTGAGGAATTGGAAAAGAACCTGCTGTTGTACCTGG

hide sequence

RefSeq Acc Id:

XM_054380016 ⟹ XP_054235991

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	16	30,743,304 - 30,756,697 (-)	NCBI

Protein Sequences


Protein RefSeqs	NP_056342	(Get FASTA)	NCBI Sequence Viewer
	XP_011544091	(Get FASTA)	NCBI Sequence Viewer
	XP_054235991	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH50523	(Get FASTA)	NCBI Sequence Viewer
	AAH63112	(Get FASTA)	NCBI Sequence Viewer
	AAH72453	(Get FASTA)	NCBI Sequence Viewer
	AAH93814	(Get FASTA)	NCBI Sequence Viewer
	AAH93816	(Get FASTA)	NCBI Sequence Viewer
	AAH98419	(Get FASTA)	NCBI Sequence Viewer
	AAQ15206	(Get FASTA)	NCBI Sequence Viewer
	BAA92086	(Get FASTA)	NCBI Sequence Viewer
	BAB14454	(Get FASTA)	NCBI Sequence Viewer
	BAH16638	(Get FASTA)	NCBI Sequence Viewer
	CAB55908	(Get FASTA)	NCBI Sequence Viewer
	EAW52256	(Get FASTA)	NCBI Sequence Viewer
	EAW52257	(Get FASTA)	NCBI Sequence Viewer
	EAW52258	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000386538
	ENSP00000386538.3
	ENSP00000456663.1
GenBank Protein	Q4KMP7	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_056342 ⟸ NM_015527

- UniProtKB:

Q9NUN6 (UniProtKB/Swiss-Prot), Q9H8Z2 (UniProtKB/Swiss-Prot), Q86VC5 (UniProtKB/Swiss-Prot), Q71RG7 (UniProtKB/Swiss-Prot), Q6P530 (UniProtKB/Swiss-Prot), Q6IN54 (UniProtKB/Swiss-Prot), B9A6L0 (UniProtKB/Swiss-Prot), Q9UFP2 (UniProtKB/Swiss-Prot), Q4KMP7 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

METGTAPLVAPPRRHGAPAAPSPPPRGSRAGPVVVVAPGPPVTTATSAPVTLVAPGEARPAWVP
GSAETSAPAPAPAPAPAPAVTGSTVVVLTLEASPEAPKPQLPSGPESPEPAAVAGVETSRALAA
GADSPKTEEARPSPAPGPGTPTGTPTRTPSRTAPGALTAKPPLAPKPGTTVASGVTARSASGQV
TGGHGAAAATSASAGQAPEDPSGPGTGPSGTCEAPVAVVTVTPAPEPAENSQDLGSTSSLGPGI
SGPRGQAPDTLSYLDSVSLMSGTLESLADDVSSMGSDSEINGLALRKTDKYGFLGGSQYSGSLE
SSIPVDVARQRELKWLDMFSNWDKWLSRRFQKVKLRCRKGIPSSLRAKAWQYLSNSKELLEQNP
GKFEELERAPGDPKWLDVIEKDLHRQFPFHEMFAARGGHGQQDLYRILKAYTIYRPDEGYCQAQ
APVAAVLLMHMPAEQAFWCLVQICDKYLPGYYSAGLEAIQLDGEIFFALLRRASPLAHRHLRRQ
RIDPVLYMTEWFMCIFARTLPWASVLRVWDMFFCEGVKIIFRVALVLLRHTLGSVEKLRSCQGM
YETMEQLRNLPQQCMQEDFLVHEVTNLPVTEALIERENAAQLKKWRETRGELQYRPSRRLHGSR
AIHEERRRQQPPLGPSSSLLSLPGLKSRGSRAAGGAPSPPPPVRRASAGPAPGPVVTAEGLHPS
LPSPTGNSTPLGSSKETRKQEKERQKQEKERQKQEKEREKERQKQEKEREKQEKEREKQEKERQ
KQEKKAQGRKLSLRRKADGPPGPHDGGDRPSAEARQDAYF

hide sequence

RefSeq Acc Id:

XP_011544091 ⟸ XM_011545789

- Peptide Label:

isoform X1

- Sequence:

show sequence

METGTAPLVAPPRRHGAPAAPSPPPRGSRAGPVVVVAPGPPVTTATSAPVTLVAPGEARPAWVP
GSAETSAPAPAPAPAPAPAVTGSTVVVLTLEASPEAPKPQLPSGPESPEPAAVAGVETSRALAA
GADSPKTEEARPSPAPGPGTPTGTPTRTPSRTAPGALTAKPPLAPKPGTTVASGVTARSASGQV
TGGHGAAAATSASAGQAPEDPSGPGTGPSGTCEAPVAVVTVTPAPEPAENSQDLGSTSSLGPGI
SGPRGQAPDTLSYLDSVSLMSGTLESLADDVSSMGSDSEINGLALRKTDKYGFLGGSQYSGSLQ
QDLYRILKAYTIYRPDEGYCQAQAPVAAVLLMHMPAEQAFWCLVQICDKYLPGYYSAGLEAIQL
DGEIFFALLRRASPLAHRHLRRQRIDPVLYMTEWFMCIFARTLPWASVLRVWDMFFCEGVKIIF
RVALVLLRHTLGSVEKLRSCQGMYETMEQLRNLPQQCMQEDFLVHEVTNLPVTEALIERENAAQ
LKKWRETRGELQYRPSRRLHGSRAIHEERRRQQPPLGPSSSLLSLPGLKSRGSRAAGGAPSPPP
PVRRASAGPAPGPVVTAEGLHPSLPSPTGNSTPLGSSKETRKQEKERQKQEKERQKQEKEREKE
RQKQEKEREKQEKEREKQEKERQKQEKKAQGRKLSLRRKADGPPGPHDGGDRPSAEARQDAYF

hide sequence

Ensembl Acc Id:

ENSP00000456663 ⟸ ENST00000490703

Ensembl Acc Id:

ENSP00000386538 ⟸ ENST00000409939

RefSeq Acc Id:	XP_054235991 ⟸ XM_054380016
- Peptide Label:	isoform X1

Protein Domains

Rab-GAP TBC

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q4KMP7-F1-model_v2	AlphaFold	Q4KMP7	1-808	view protein structure

Promoters

RGD ID:

6793497

Promoter ID:

HG_KWN:23530

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

K562, Lymphoblastoid

Transcripts:

ENST00000380442, OTTHUMT00000328338, UC002DXT.2

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	16	30,277,766 - 30,278,732 (-)	MPROMDB

RGD ID:

6793493

Promoter ID:

HG_KWN:23532

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, K562, Lymphoblastoid, NB4

Transcripts:

ENST00000409939

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	16	30,288,091 - 30,289,977 (-)	MPROMDB

RGD ID:

7231959

Promoter ID:

EPDNEW_H21726

Type:

initiation region

Name:

TBC1D10B_1

Description:

TBC1 domain family member 10B

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	30,370,183 - 30,370,243	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:24510	AgrOrtholog
COSMIC	TBC1D10B	COSMIC
Ensembl Genes	ENSG00000169221	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000409939	ENTREZGENE
	ENST00000409939.8	UniProtKB/Swiss-Prot
	ENST00000490703.1	UniProtKB/TrEMBL
Gene3D-CATH	putative rabgap domain of human tbc1 domain family member 14 like domains	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Ypt/Rab-GAP domain of gyp1p, domain 1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Ypt/Rab-GAP domain of gyp1p, domain 3	UniProtKB/Swiss-Prot
GTEx	ENSG00000169221	GTEx
HGNC ID	HGNC:24510	ENTREZGENE
Human Proteome Map	TBC1D10B	Human Proteome Map
InterPro	Rab-GTPase-TBC_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Rab-GTPase_TBC_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Rab_GAP_TBC_domain	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:26000	UniProtKB/Swiss-Prot
NCBI Gene	26000	ENTREZGENE
OMIM	613620	OMIM
PANTHER	RAB GTPASE-ACTIVATING PROTEIN 1-LIKE	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	TBC1 DOMAIN FAMILY MEMBER 10B	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	RabGAP-TBC	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA142670835	PharmGKB
PRINTS	PRICHEXTENSN	UniProtKB/Swiss-Prot
PROSITE	TBC_RABGAP	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	TBC	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	SSF47923	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	B9A6L0	ENTREZGENE
	H3BSE1_HUMAN	UniProtKB/TrEMBL
	Q4KMP7	ENTREZGENE
	Q6IN54	ENTREZGENE
	Q6P530	ENTREZGENE
	Q71RG7	ENTREZGENE
	Q86VC5	ENTREZGENE
	Q9H8Z2	ENTREZGENE
	Q9NUN6	ENTREZGENE
	Q9UFP2	ENTREZGENE
	TB10B_HUMAN	UniProtKB/Swiss-Prot
UniProt Secondary	B9A6L0	UniProtKB/Swiss-Prot
	Q6IN54	UniProtKB/Swiss-Prot
	Q6P530	UniProtKB/Swiss-Prot
	Q71RG7	UniProtKB/Swiss-Prot
	Q86VC5	UniProtKB/Swiss-Prot
	Q9H8Z2	UniProtKB/Swiss-Prot
	Q9NUN6	UniProtKB/Swiss-Prot
	Q9UFP2	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2015-11-24	TBC1D10B	TBC1 domain family member 10B		TBC1 domain family, member 10B	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)

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Imported Disease Annotations - ClinVar