JPT2 (Jupiter microtubule associated homolog 2)

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Gene: JPT2 (Jupiter microtubule associated homolog 2) Homo sapiens

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Symbol:

JPT2

Name:

Jupiter microtubule associated homolog 2

RGD ID:

1312960

HGNC Page

HGNC:14137

Description:

Involved in endocytosis involved in viral entry into host cell and regulation of calcium-mediated signaling. Located in cytosol; nucleus; and plasma membrane.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

C16orf34; CRAMP_1 like; FLJ13092; hematological and neurological expressed 1 like; hematological and neurological expressed 1-like; HN1 like; HN1-like protein; HN1L; KIAA1426; L11

RGD Orthologs

Alliance Orthologs

More Info

more info ...

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	1,678,279 - 1,702,086 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	16	1,678,256 - 1,702,280 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	16	1,728,280 - 1,752,087 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	16	1,668,279 - 1,692,074 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	16	1,940,552 - 1,964,346 (+)	NCBI		Celera
Cytogenetic Map	16	p13.3	NCBI
HuRef	16	1,653,268 - 1,677,063 (+)	NCBI		HuRef
CHM1_1	16	1,728,250 - 1,752,045 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	16	1,694,127 - 1,717,934 (+)	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

epilepsy (IAGP)

idiopathic generalized epilepsy (IAGP)

short-rib thoracic dysplasia 9 with or without polydactyly (IAGP)

tuberous sclerosis 2 (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dichloroethane (ISO)

17beta-estradiol (EXP)

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

2-hydroxypropanoic acid (EXP)

3,3',4,4',5-pentachlorobiphenyl (ISO)

4-hydroxyphenyl retinamide (ISO)

6-propyl-2-thiouracil (ISO)

aflatoxin B1 (EXP)

amitrole (ISO)

arsane (EXP)

arsenic atom (EXP)

benzatropine (EXP)

benzo[a]pyrene (ISO)

bisphenol A (EXP,ISO)

bisphenol F (ISO)

buspirone (ISO)

cadmium dichloride (EXP,ISO)

carbamazepine (EXP)

carbon nanotube (ISO)

copper atom (EXP)

copper(0) (EXP)

Cuprizon (EXP,ISO)

cyclosporin A (EXP)

diazinon (EXP)

Dibutyl phosphate (EXP)

dibutyl phthalate (ISO)

dioxygen (ISO)

dorsomorphin (EXP)

doxorubicin (EXP)

enzyme inhibitor (EXP)

fipronil (ISO)

flutamide (ISO)

folic acid (ISO)

FR900359 (EXP)

furan (ISO)

glafenine (ISO)

glycidol (ISO)

ivermectin (EXP)

lead diacetate (ISO)

lead(0) (EXP)

methapyrilene (ISO)

methimazole (ISO)

methotrexate (EXP)

miconazole (ISO)

nimesulide (ISO)

ozone (ISO)

paracetamol (ISO)

pentachlorophenol (ISO)

perfluorohexanesulfonic acid (ISO)

perfluorooctanoic acid (ISO)

phenobarbital (ISO)

quercitrin (EXP)

rac-lactic acid (EXP)

SB 431542 (EXP)

sodium arsenate (ISO)

sodium arsenite (EXP)

sulfadimethoxine (ISO)

sunitinib (EXP)

tert-butyl hydroperoxide (EXP)

tetrachloromethane (ISO)

tetrahydropalmatine (EXP)

thiram (EXP)

titanium dioxide (ISO)

topotecan (EXP)

torcetrapib (EXP)

trichloroethene (ISO)

trichostatin A (EXP)

triphenyl phosphate (EXP,ISO)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

endocytosis involved in viral entry into host cell (IDA)

regulation of calcium-mediated signaling (IMP)

Cellular Component

cytoplasm (IDA,IEA)

cytosol (IDA)

nucleus (IBA,IDA,IEA)

plasma membrane (IDA)

Molecular Function

protein binding (IPI)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Generalized-onset seizure (IAGP)

Seizure (IAGP)

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:10718198	PMID:11157797	PMID:12477932	PMID:14702039	PMID:15094197	PMID:15334068	PMID:15489334	PMID:16169070	PMID:16341674	PMID:16518797	PMID:16964243	PMID:18029348
PMID:19584346	PMID:21873635	PMID:21900206	PMID:21988832	PMID:22412018	PMID:24550385	PMID:25468996	PMID:25796446	PMID:26344197	PMID:26496610	PMID:26641092	PMID:26760575
PMID:28378594	PMID:28514442	PMID:28718761	PMID:28846114	PMID:29053395	PMID:29249663	PMID:30021884	PMID:30397336	PMID:30585729	PMID:30778199	PMID:30890647	PMID:30979931
PMID:31091453	PMID:31478661	PMID:31519766	PMID:32203420	PMID:32416067	PMID:32687490	PMID:33191617	PMID:33471419	PMID:33758061	PMID:33758062	PMID:33916271	PMID:33961781
PMID:34349018	PMID:34519127	PMID:34591612	PMID:35271311	PMID:35439318	PMID:35446349	PMID:35696571	PMID:35944360	PMID:36114006	PMID:36232890	PMID:36476988	PMID:37039823
PMID:37151849	PMID:37607218	PMID:37774976	PMID:37827155	PMID:38113892	PMID:38334954	PMID:38417123	PMID:39098523

Genomics

Comparative Map Data

JPT2
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	16	1,678,279 - 1,702,086 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	16	1,678,256 - 1,702,280 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	16	1,728,280 - 1,752,087 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	16	1,668,279 - 1,692,074 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	16	1,940,552 - 1,964,346 (+)	NCBI		Celera
Cytogenetic Map	16	p13.3	NCBI
HuRef	16	1,653,268 - 1,677,063 (+)	NCBI		HuRef
CHM1_1	16	1,728,250 - 1,752,045 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	16	1,694,127 - 1,717,934 (+)	NCBI		T2T-CHM13v2.0

Jpt2
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	17	25,161,444 - 25,179,597 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	17	25,156,393 - 25,179,663 (-)	Ensembl		GRCm39 Ensembl
GRCm38	17	24,942,470 - 24,960,623 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	17	24,937,419 - 24,960,689 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	17	25,079,415 - 25,097,568 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	17	24,670,070 - 24,688,223 (-)	NCBI		MGSCv36	mm8
Celera	17	25,469,375 - 25,488,145 (-)	NCBI		Celera
Cytogenetic Map	17	A3.3	NCBI
cM Map	17	12.53	NCBI

Jpt2
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	10	14,467,652 - 14,487,769 (-)	NCBI		GRCr8
mRatBN7.2	10	13,963,135 - 13,983,212 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	10	13,963,137 - 13,983,170 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	10	18,710,164 - 18,730,178 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	10	18,199,027 - 18,219,041 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	10	13,698,248 - 13,718,260 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	10	14,304,108 - 14,324,170 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	10	14,304,104 - 14,324,211 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	10	14,120,124 - 14,139,812 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	10	14,191,222 - 14,211,106 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	10	14,191,225 - 14,211,106 (-)	NCBI
Celera	10	13,642,349 - 13,661,670 (-)	NCBI		Celera
Cytogenetic Map	10	q12	NCBI

Jpt2
(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_004955442	15,549,223 - 15,563,268 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955442	15,549,223 - 15,563,027 (-)	NCBI	ChiLan1.0	ChiLan1.0

JPT2
(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	1,943,931 - 1,967,296 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	16	5,725,809 - 5,749,170 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	16	299,835 - 323,210 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	16	1,736,162 - 1,754,175 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	16	1,733,188 - 1,754,175 (+)	Ensembl	panpan1.1		panPan2

JPT2
(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	39,181,488 - 39,201,903 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	6	39,185,213 - 39,201,890 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	6	40,421,095 - 40,439,825 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	6	39,498,658 - 39,517,397 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	6	39,498,678 - 39,517,355 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	6	39,175,838 - 39,194,570 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	6	39,148,078 - 39,166,793 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	6	39,626,358 - 39,645,339 (-)	NCBI		UU_Cfam_GSD_1.0

Jpt2
(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	104,425,535 - 104,444,093 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936694	2,265,360 - 2,283,878 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936694	2,265,360 - 2,283,887 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

JPT2
(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	40,244,011 - 40,256,980 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	3	40,245,473 - 40,256,960 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	3	41,709,807 - 41,721,121 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

JPT2
(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	1,589,553 - 1,611,592 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	5	1,589,631 - 1,613,046 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666068	29,474,273 - 29,495,781 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Jpt2
(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_004624913	531,797 - 551,176 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624913	531,797 - 551,032 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in JPT2
18 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	copy number gain	See cases [RCV000052367]	Chr16:23141..11296695 [GRCh38] Chr16:73141..11390552 [GRCh37] Chr16:13141..11298053 [NCBI36] Chr16:16p13.3-13.13	pathogenic
GRCh38/hg38 16p13.3(chr16:29941-2560460)x3	copy number gain	See cases [RCV000052368]	Chr16:29941..2560460 [GRCh38] Chr16:79941..2610461 [GRCh37] Chr16:19941..2550462 [NCBI36] Chr16:16p13.3	pathogenic
GRCh38/hg38 16p13.3(chr16:46566-1800860)x3	copy number gain	See cases [RCV000052369]	Chr16:46566..1800860 [GRCh38] Chr16:96566..1850861 [GRCh37] Chr16:36566..1790862 [NCBI36] Chr16:16p13.3	pathogenic
GRCh38/hg38 16p13.3(chr16:46766-3214623)x3	copy number gain	See cases [RCV000052370]	Chr16:46766..3214623 [GRCh38] Chr16:96766..3264623 [GRCh37] Chr16:36766..3204624 [NCBI36] Chr16:16p13.3	pathogenic
GRCh38/hg38 16p13.3(chr16:1221651-2233773)x3	copy number gain	See cases [RCV000052373]	Chr16:1221651..2233773 [GRCh38] Chr16:1271651..2283774 [GRCh37] Chr16:1211652..2223775 [NCBI36] Chr16:16p13.3	pathogenic
GRCh38/hg38 16p13.3(chr16:1278821-1919148)x3	copy number gain	See cases [RCV000052375]	Chr16:1278821..1919148 [GRCh38] Chr16:1328822..1969149 [GRCh37] Chr16:1268823..1909150 [NCBI36] Chr16:16p13.3	pathogenic
GRCh38/hg38 16p13.3(chr16:23141-1773349)x1	copy number loss	See cases [RCV000053251]	Chr16:23141..1773349 [GRCh38] Chr16:73141..1823350 [GRCh37] Chr16:13141..1763351 [NCBI36] Chr16:16p13.3	pathogenic
GRCh38/hg38 16p13.3(chr16:23141-1712523)x1	copy number loss	See cases [RCV000053252]	Chr16:23141..1712523 [GRCh38] Chr16:73141..1762524 [GRCh37] Chr16:13141..1702525 [NCBI36] Chr16:16p13.3	pathogenic
GRCh38/hg38 16p13.3(chr16:46766-1997582)x1	copy number loss	See cases [RCV000053253]	Chr16:46766..1997582 [GRCh38] Chr16:96766..2047583 [GRCh37] Chr16:36766..1987584 [NCBI36] Chr16:16p13.3	pathogenic
GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	copy number gain	See cases [RCV000133780]	Chr16:46766..11525516 [GRCh38] Chr16:96766..11619372 [GRCh37] Chr16:36766..11526873 [NCBI36] Chr16:16p13.3-13.13	pathogenic
GRCh38/hg38 16p13.3(chr16:46766-4247185)x3	copy number gain	See cases [RCV000136687]	Chr16:46766..4247185 [GRCh38] Chr16:96766..4297186 [GRCh37] Chr16:36766..4237187 [NCBI36] Chr16:16p13.3	pathogenic
GRCh38/hg38 16p13.3(chr16:46722-1867327)x1	copy number loss	See cases [RCV000137826]	Chr16:46722..1867327 [GRCh38] Chr16:96722..1917328 [GRCh37] Chr16:36722..1857329 [NCBI36] Chr16:16p13.3	pathogenic
GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	copy number gain	See cases [RCV000139166]	Chr16:43732..13326806 [GRCh38] Chr16:93732..13420663 [GRCh37] Chr16:33732..13328164 [NCBI36] Chr16:16p13.3-13.12	pathogenic
GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	copy number gain	See cases [RCV000143710]	Chr16:666662..15743104 [GRCh38] Chr16:716662..15836961 [GRCh37] Chr16:656663..15744462 [NCBI36] Chr16:16p13.3-13.11	pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3	copy number gain	See cases [RCV000203445]	Chr16:102839..28327676 [GRCh37] Chr16:16p13.3-11.2	pathogenic
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 16p13.3-12.3(chr16:1274615-19073133)x3	copy number gain	Breast ductal adenocarcinoma [RCV000207326]	Chr16:1274615..19073133 [GRCh37] Chr16:16p13.3-12.3	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 16p13.3-13.2(chr16:78801-9169448)	copy number gain	See cases [RCV000446555]	Chr16:78801..9169448 [GRCh37] Chr16:16p13.3-13.2	pathogenic
GRCh37/hg19 16p13.3(chr16:97133-5122974)x3	copy number gain	See cases [RCV000445663]	Chr16:97133..5122974 [GRCh37] Chr16:16p13.3	pathogenic
GRCh37/hg19 16p13.3(chr16:643377-3125125)x3	copy number gain	See cases [RCV000510815]	Chr16:643377..3125125 [GRCh37] Chr16:16p13.3	uncertain significance
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
NM_144570.3(JPT2):c.182C>T (p.Thr61Ile)	single nucleotide variant	not specified [RCV004292068]	Chr16:1685576 [GRCh38] Chr16:1735577 [GRCh37] Chr16:16p13.3	uncertain significance
GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3	copy number gain	See cases [RCV000511360]	Chr16:85880..22442007 [GRCh37] Chr16:16p13.3-12.2	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
NM_144570.3(JPT2):c.165G>C (p.Gln55His)	single nucleotide variant	not specified [RCV004321127]	Chr16:1685559 [GRCh38] Chr16:1735560 [GRCh37] Chr16:16p13.3	uncertain significance
GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3	copy number gain	See cases [RCV000510698]	Chr16:85880..9883129 [GRCh37] Chr16:16p13.3-13.2	pathogenic
GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3	copy number gain	See cases [RCV000512194]	Chr16:85880..19806921 [GRCh37] Chr16:16p13.3-12.3	pathogenic
GRCh37/hg19 16p13.3(chr16:85880-1875694)x1	copy number loss	not provided [RCV000683741]	Chr16:85880..1875694 [GRCh37] Chr16:16p13.3	pathogenic
GRCh37/hg19 16p13.3(chr16:85880-3216551)x3	copy number gain	not provided [RCV000683742]	Chr16:85880..3216551 [GRCh37] Chr16:16p13.3	pathogenic
GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3	copy number gain	not provided [RCV000683743]	Chr16:85880..11209288 [GRCh37] Chr16:16p13.3-13.13	pathogenic
GRCh37/hg19 16p13.3(chr16:1734363-2285561)x1	copy number loss	not provided [RCV000683746]	Chr16:1734363..2285561 [GRCh37] Chr16:16p13.3	pathogenic
GRCh37/hg19 16p13.3(chr16:1505184-4415346)x3	copy number gain	not provided [RCV000683745]	Chr16:1505184..4415346 [GRCh37] Chr16:16p13.3	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 16p13.3(chr16:1564823-1743511)x3	copy number gain	not provided [RCV000738982]	Chr16:1564823..1743511 [GRCh37] Chr16:16p13.3	benign
NC_000016.10:g.(?_1523498)_(2064447_?)del	deletion	Tuberous sclerosis 2 [RCV001032344]	Chr16:1573499..2114448 [GRCh37] Chr16:16p13.3	pathogenic
GRCh37/hg19 16p13.3(chr16:109978-4316797)	copy number gain	Chromosome 16p13.3 duplication syndrome [RCV000767731]	Chr16:109978..4316797 [GRCh37] Chr16:16p13.3	pathogenic
Single allele	inversion	Hereditary cancer-predisposing syndrome [RCV000850149]	Chr16:1566500..2119769 [GRCh37] Chr16:16p13.3	uncertain significance
GRCh37/hg19 16p13.3(chr16:85880-2053328)x1	copy number loss	not provided [RCV000849039]	Chr16:85880..2053328 [GRCh37] Chr16:16p13.3	pathogenic
GRCh37/hg19 16p13.3(chr16:1719218-1758761)x1	copy number loss	not provided [RCV000846742]	Chr16:1719218..1758761 [GRCh37] Chr16:16p13.3	uncertain significance
NC_000016.9:g.(?_624055)_(2115656_?)del	deletion	Tuberous sclerosis 2 [RCV000811345]	Chr16:624055..2115656 [GRCh37] Chr16:16p13.3	pathogenic
GRCh37/hg19 16p13.3(chr16:1727095-1947413)x3	copy number gain	not provided [RCV000845877]	Chr16:1727095..1947413 [GRCh37] Chr16:16p13.3	uncertain significance
GRCh37/hg19 16p13.3(chr16:1636570-1786407)x1	copy number loss	not provided [RCV000849532]	Chr16:1636570..1786407 [GRCh37] Chr16:16p13.3	uncertain significance
NC_000016.9:g.(?_624055)_(2550979_?)dup	duplication	Idiopathic generalized epilepsy [RCV001033790]	Chr16:624055..2550979 [GRCh37] Chr16:16p13.3	uncertain significance
GRCh37/hg19 16p13.3(chr16:84485-5251013)x3	copy number gain	not provided [RCV001537890]	Chr16:84485..5251013 [GRCh37] Chr16:16p13.3	pathogenic
NC_000016.9:g.(?_624055)_(2148005_?)del	deletion	Tuberous sclerosis 2 [RCV001033183]	Chr16:624055..2148005 [GRCh37] Chr16:16p13.3	pathogenic
NC_000016.9:g.(?_1203718)_(2185710_?)del	deletion	Tuberous sclerosis 2 [RCV001033886]	Chr16:1203718..2185710 [GRCh37] Chr16:16p13.3	pathogenic
GRCh37/hg19 16p13.3(chr16:1505184-1818754)x3	copy number gain	not provided [RCV001259750]	Chr16:1505184..1818754 [GRCh37] Chr16:16p13.3	uncertain significance
GRCh37/hg19 16p13.3(chr16:85880-5249457)x3	copy number gain	not provided [RCV001259749]	Chr16:85880..5249457 [GRCh37] Chr16:16p13.3	pathogenic
NC_000016.9:g.(?_624055)_(2153916_?)dup	duplication	Epilepsy [RCV001344085]\|Idiopathic generalized epilepsy [RCV001316565]	Chr16:624055..2153916 [GRCh37] Chr16:16p13.3	uncertain significance
GRCh37/hg19 16p13.3(chr16:1659722-1767601)x1	copy number loss	not provided [RCV001827609]	Chr16:1659722..1767601 [GRCh37] Chr16:16p13.3	uncertain significance
NC_000016.9:g.(?_256302)_(5971108_?)dup	duplication	Familial Mediterranean fever [RCV001877532]\|Fanconi anemia [RCV001877533]\|not provided [RCV001877531]	Chr16:256302..5971108 [GRCh37] Chr16:16p13.3	uncertain significance
NC_000016.9:g.(?_256302)_(4852572_?)dup	duplication	Epilepsy [RCV003113403]\|Idiopathic generalized epilepsy [RCV003109446]\|Saldino-Mainzer syndrome [RCV003113404]	Chr16:256302..4852572 [GRCh37] Chr16:16p13.3	uncertain significance
NC_000016.9:g.(?_256302)_(1843653_?)del	deletion	Idiopathic generalized epilepsy [RCV003109815]	Chr16:256302..1843653 [GRCh37] Chr16:16p13.3	uncertain significance
NC_000016.9:g.(?_256302)_(1918176_?)del	deletion	not provided [RCV003119703]	Chr16:256302..1918176 [GRCh37] Chr16:16p13.3	uncertain significance
GRCh37/hg19 16p13.3(chr16:111043-6627459)x3	copy number gain	See cases [RCV002292215]	Chr16:111043..6627459 [GRCh37] Chr16:16p13.3	pathogenic
GRCh37/hg19 16p13.3(chr16:1129080-2021055)x3	copy number gain	not provided [RCV002473769]	Chr16:1129080..2021055 [GRCh37] Chr16:16p13.3	uncertain significance
NM_144570.3(JPT2):c.274A>T (p.Ser92Cys)	single nucleotide variant	not specified [RCV004264115]	Chr16:1691923 [GRCh38] Chr16:1741924 [GRCh37] Chr16:16p13.3	uncertain significance
GRCh37/hg19 16p13.3(chr16:811896-2130379)x1	copy number loss	not provided [RCV003222891]	Chr16:811896..2130379 [GRCh37] Chr16:16p13.3	pathogenic
NM_144570.3(JPT2):c.22G>A (p.Glu8Lys)	single nucleotide variant	not specified [RCV004262764]	Chr16:1678334 [GRCh38] Chr16:1728335 [GRCh37] Chr16:16p13.3	uncertain significance
NM_144570.3(JPT2):c.14C>A (p.Pro5Gln)	single nucleotide variant	not specified [RCV004356119]	Chr16:1678326 [GRCh38] Chr16:1728327 [GRCh37] Chr16:16p13.3	uncertain significance
GRCh37/hg19 16p13.3(chr16:1054247-2592737)x3	copy number gain	not provided [RCV003485080]	Chr16:1054247..2592737 [GRCh37] Chr16:16p13.3	likely pathogenic
GRCh37/hg19 16p13.3(chr16:1505227-1960381)x3	copy number gain	not provided [RCV003485081]	Chr16:1505227..1960381 [GRCh37] Chr16:16p13.3	uncertain significance
NM_144570.3(JPT2):c.14C>G (p.Pro5Arg)	single nucleotide variant	not specified [RCV004403433]	Chr16:1678326 [GRCh38] Chr16:1728327 [GRCh37] Chr16:16p13.3	uncertain significance
NM_144570.3(JPT2):c.433G>A (p.Ala145Thr)	single nucleotide variant	not specified [RCV004403442]	Chr16:1698858 [GRCh38] Chr16:1748859 [GRCh37] Chr16:16p13.3	likely benign
NM_144570.3(JPT2):c.472C>T (p.Pro158Ser)	single nucleotide variant	not specified [RCV004403443]	Chr16:1698897 [GRCh38] Chr16:1748898 [GRCh37] Chr16:16p13.3	uncertain significance
NM_144570.3(JPT2):c.71C>T (p.Ser24Leu)	single nucleotide variant	not specified [RCV004403444]	Chr16:1685465 [GRCh38] Chr16:1735466 [GRCh37] Chr16:16p13.3	uncertain significance
NM_144570.3(JPT2):c.194G>C (p.Gly65Ala)	single nucleotide variant	not specified [RCV004403434]	Chr16:1691843 [GRCh38] Chr16:1741844 [GRCh37] Chr16:16p13.3	uncertain significance
NM_144570.3(JPT2):c.19A>G (p.Ser7Gly)	single nucleotide variant	not specified [RCV004403435]	Chr16:1678331 [GRCh38] Chr16:1728332 [GRCh37] Chr16:16p13.3	uncertain significance
NM_144570.3(JPT2):c.21C>G (p.Ser7Arg)	single nucleotide variant	not specified [RCV004403436]	Chr16:1678333 [GRCh38] Chr16:1728334 [GRCh37] Chr16:16p13.3	uncertain significance
NM_144570.3(JPT2):c.232G>A (p.Val78Met)	single nucleotide variant	not specified [RCV004403437]	Chr16:1691881 [GRCh38] Chr16:1741882 [GRCh37] Chr16:16p13.3	uncertain significance
NM_144570.3(JPT2):c.25G>A (p.Gly9Ser)	single nucleotide variant	not specified [RCV004403438]	Chr16:1678337 [GRCh38] Chr16:1728338 [GRCh37] Chr16:16p13.3	uncertain significance
NM_144570.3(JPT2):c.35C>G (p.Ala12Gly)	single nucleotide variant	not specified [RCV004403440]	Chr16:1678347 [GRCh38] Chr16:1728348 [GRCh37] Chr16:16p13.3	uncertain significance
NM_144570.3(JPT2):c.415C>G (p.Pro139Ala)	single nucleotide variant	not specified [RCV004403441]	Chr16:1698840 [GRCh38] Chr16:1748841 [GRCh37] Chr16:16p13.3	uncertain significance
NM_144570.3(JPT2):c.10G>C (p.Val4Leu)	single nucleotide variant	not specified [RCV004403432]	Chr16:1678322 [GRCh38] Chr16:1728323 [GRCh37] Chr16:16p13.3	uncertain significance
NC_000016.9:g.(?_1607916)_(2130398_?)dup	duplication	Tuberous sclerosis 2 [RCV004582694]	Chr16:1607916..2130398 [GRCh37] Chr16:16p13.3	uncertain significance
NC_000016.9:g.(?_339420)_(3767509_?)dup	duplication	Epilepsy [RCV004581460]\|Idiopathic generalized epilepsy [RCV004581461]	Chr16:339420..3767509 [GRCh37] Chr16:16p13.3	uncertain significance
NM_144570.3(JPT2):c.401C>T (p.Pro134Leu)	single nucleotide variant	not specified [RCV004635817]	Chr16:1698826 [GRCh38] Chr16:1748827 [GRCh37] Chr16:16p13.3	uncertain significance

miRNA Target Status

Confirmed Target Of

miRNA Gene	Mature miRNA	Method Name	Result Type	Data Type	Support Type	PMID
MIR125B2	hsa-miR-125b-2-3p	Mirtarbase	external_info	CLASH	Functional MTI (Weak)	23622248

Predicted Target Of

	Summary Value
Count of predictions:	5900
Count of miRNA genes:	1219
Interacting mature miRNAs:	1555
Transcripts:	ENST00000248098, ENST00000382710, ENST00000382711, ENST00000561516, ENST00000562569, ENST00000562684, ENST00000565851, ENST00000566691, ENST00000566742, ENST00000566925, ENST00000567717, ENST00000568376, ENST00000569256, ENST00000569765
Prediction methods:	Microtar, Miranda, Rnahybrid
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
407021827	GWAS670803_H	testosterone measurement QTL GWAS670803 (human)		2e-10	testosterone measurement	serum testosterone level (CMO:0000568)	16	1680469	1680470	Human
406952688	GWAS601664_H	sleep apnea QTL GWAS601664 (human)		3e-08	sleep apnea		16	1690690	1690691	Human
407057819	GWAS706795_H	snoring measurement QTL GWAS706795 (human)		9e-09	snoring measurement		16	1690690	1690691	Human

Markers in Region

SHGC-64081

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	1,751,633 - 1,751,727	UniSTS	GRCh37
Build 36	16	1,691,634 - 1,691,728	RGD	NCBI36
Celera	16	1,963,906 - 1,964,000	RGD
Cytogenetic Map	16	p13.3	UniSTS
HuRef	16	1,676,623 - 1,676,717	UniSTS

D16S2902

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	1,751,213 - 1,751,380	UniSTS	GRCh37
Build 36	16	1,691,214 - 1,691,381	RGD	NCBI36
Celera	16	1,963,486 - 1,963,653	RGD
Cytogenetic Map	16	p13.3	UniSTS
HuRef	16	1,676,203 - 1,676,370	UniSTS

SHGC-60789

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	1,749,870 - 1,749,994	UniSTS	GRCh37
Build 36	16	1,689,871 - 1,689,995	RGD	NCBI36
Celera	16	1,962,143 - 1,962,267	RGD
Cytogenetic Map	16	p13.3	UniSTS
HuRef	16	1,674,860 - 1,674,984	UniSTS
GeneMap99-GB4 RH Map	16	45.24	UniSTS
Whitehead-RH Map	16	12.3	UniSTS

A006J08

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	1,751,854 - 1,752,053	UniSTS	GRCh37
Build 36	16	1,691,855 - 1,692,054	RGD	NCBI36
Celera	16	1,964,127 - 1,964,326	RGD
Cytogenetic Map	16	p13.3	UniSTS
HuRef	16	1,676,844 - 1,677,043	UniSTS
GeneMap99-GB4 RH Map	16	27.65	UniSTS

G20864

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	1,751,854 - 1,752,053	UniSTS	GRCh37
Build 36	16	1,691,855 - 1,692,054	RGD	NCBI36
Celera	16	1,964,127 - 1,964,326	RGD
Cytogenetic Map	16	p13.3	UniSTS
HuRef	16	1,676,844 - 1,677,043	UniSTS

RH77849

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	1,751,779 - 1,751,963	UniSTS	GRCh37
Build 36	16	1,691,780 - 1,691,964	RGD	NCBI36
Celera	16	1,964,052 - 1,964,236	RGD
Cytogenetic Map	16	p13.3	UniSTS
HuRef	16	1,676,769 - 1,676,953	UniSTS
GeneMap99-GB4 RH Map	16	45.24	UniSTS

SHGC-60756

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	1,751,282 - 1,751,408	UniSTS	GRCh37
Build 36	16	1,691,283 - 1,691,409	RGD	NCBI36
Celera	16	1,963,555 - 1,963,681	RGD
Cytogenetic Map	16	p13.3	UniSTS
HuRef	16	1,676,272 - 1,676,398	UniSTS
GeneMap99-GB4 RH Map	16	45.13	UniSTS
Whitehead-RH Map	16	15.9	UniSTS

RH65543

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	1,749,384 - 1,749,558	UniSTS	GRCh37
Build 36	16	1,689,385 - 1,689,559	RGD	NCBI36
Celera	16	1,961,657 - 1,961,831	RGD
Cytogenetic Map	16	p13.3	UniSTS
HuRef	16	1,674,374 - 1,674,548	UniSTS
GeneMap99-GB4 RH Map	16	44.63	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_144570	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AE006639	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK023154	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK296888	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK296998	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK303927	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK304025	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK309909	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK309930	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK316514	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL031009	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL031710	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY323831	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY323978	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY323979	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY598330	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC014438	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC060853	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM474060	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM837125	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471112	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068262	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CS489579	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000248098 ⟹ ENSP00000248098

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	1,678,279 - 1,702,086 (+)	Ensembl

Ensembl Acc Id:

ENST00000382710 ⟹ ENSP00000372157

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	1,680,337 - 1,699,269 (+)	Ensembl

Ensembl Acc Id:

ENST00000382711 ⟹ ENSP00000372158

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	1,678,280 - 1,699,237 (+)	Ensembl

Ensembl Acc Id:

ENST00000561516 ⟹ ENSP00000454459

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	1,678,279 - 1,699,599 (+)	Ensembl

Ensembl Acc Id:

ENST00000562569 ⟹ ENSP00000457344

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	1,685,500 - 1,702,280 (+)	Ensembl

Ensembl Acc Id:

ENST00000562684 ⟹ ENSP00000457694

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	1,678,277 - 1,701,490 (+)	Ensembl

Ensembl Acc Id:

ENST00000565851 ⟹ ENSP00000457424

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	1,685,381 - 1,698,976 (+)	Ensembl

Ensembl Acc Id:

ENST00000566691 ⟹ ENSP00000454529

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	1,680,337 - 1,698,819 (+)	Ensembl

Ensembl Acc Id:

ENST00000566742 ⟹ ENSP00000454567

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	1,678,290 - 1,700,225 (+)	Ensembl

Ensembl Acc Id:

ENST00000566925 ⟹ ENSP00000456487

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	1,678,313 - 1,698,883 (+)	Ensembl

Ensembl Acc Id:

ENST00000567717

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	1,678,276 - 1,692,469 (+)	Ensembl

Ensembl Acc Id:

ENST00000568376

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	1,685,479 - 1,692,442 (+)	Ensembl

Ensembl Acc Id:

ENST00000569256

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	1,678,256 - 1,699,428 (+)	Ensembl

Ensembl Acc Id:

ENST00000569765 ⟹ ENSP00000457536

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	1,678,313 - 1,699,266 (+)	Ensembl

RefSeq Acc Id:

NM_144570 ⟹ NP_653171

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	1,678,279 - 1,702,086 (+)	NCBI
GRCh37	16	1,728,201 - 1,752,073 (+)	NCBI
Build 36	16	1,668,279 - 1,692,074 (+)	NCBI Archive
Celera	16	1,940,552 - 1,964,346 (+)	RGD
HuRef	16	1,653,268 - 1,677,063 (+)	ENTREZGENE
CHM1_1	16	1,728,250 - 1,752,045 (+)	NCBI
T2T-CHM13v2.0	16	1,694,127 - 1,717,934 (+)	NCBI

Sequence:

show sequence

GGCGCGCGGCGAGCTGAGGGTGGCGGCGGTCGACATGTTCCAGGTCCCGGATAGCGAGGGCGGC
CGCGCCGGCTCCAGGGCCATGAAGCCCCCAGGAGGAGAATCGAGCAATCTTTTTGGAAGTCCAG
AAGAAGCTACTCCTTCCAGCAGGCCTAATAGGATGGCATCTAATATTTTTGGACCAACAGAAGA
ACCTCAGAACATACCCAAGAGGACAAATCCCCCAGGGGGTAAAGGAAGTGGTATCTTTGACGAA
TCAACCCCCGTGCAGACTCGACAGCACCTGAACCCACCTGGAGGGAAGACCAGCGACATTTTTG
GGTCTCCGGTCACTGCCACTTCACGCTTGGCACACCCAAACAAACCCAAGGATCATGTTTTCTT
ATGTGAAGGAGAAGAACCAAAATCGGATCTTAAAGCTGCAAGGAGCATCCCGGCTGGAGCAGAG
CCAGGTGAGAAAGGCAGCGCCAGAAAAGCAGGCCCCGCCAAGGAGCAGGAGCCCATGCCCACAG
TCGACAGCCATGAGCCCCGGCTGGGGCCGCGGCCTCGCTCTCACAACAAGGTCCTGAACCCACC
GGGAGGCAAATCCAGCATCTCCTTCTACTAAGAGAAGCCACTGCTCCACCCGGAGCCAGACCAG
AAACTCAAGAGATAGGGTAGCCATGTTTTCATTTCCTTTTGCCCAAATGAGCGGGGTGGGAAGA
GGGTTAGTCTTATGTGAGCCTGGCTGCTCAGCGTCTCCTGGCCGTCATGACAGCTGCTTGGAGA
CCCGTGCCTTCCAGATGGCTGGGAGATGCCTCTGTGGGGATGAAATGGGGCACCCCTGGCCATC
ACTCATGTGTAGTCCAGGTTTGAGAGGAACTGGAAGGGGGGTGAGGGTGGGGAGGTGGGGCAGG
GCATGGTCCTTGGATCAACAGCCCGCCAGCTGATTGGATGTCTAGGAATGACTGAAAGAAACCA
AAACAGCCTGTCCACTGCTGCTGTGGGATGGAGGAGGCGTAAGCAGAAACACTAACAGTATATT
GACCTCTTAGCAGAACCGCTTCCATTCTGGAGATCACGGCTGCTAAATCCAGCATCCCCACTTC
ATTTTACCCCCAGCATATTGTTCTGTAGTCTTTTCTTGAAACATCTTGATTGCTTTTCCTCGGC
AGCTTTCAAAAAACCAAATAATAATAGTTATCCGTCTTCTACTTCATGGAAGATTGTTTTGGTG
CCCTGACCCTCTGAAGTGCCCAGTTCCTGCCATCTGAAACCTCGGCCTGATCTGATCTCATGTT
GGAATCTGCCTGTCTTTCACACAGGGCTGGTCTTGGTCCTTTACATGCCAGTTTTGCTTGTGAA
TTCTTGCTTTTTTCCTCTCATCAGCCTTAAGTTTAGGCGTTTGTTGTTCTCCAGTGATGTAGAC
AGTTCCCTTCACAAGTCACAGTTCTTCCCATAAATGAGGCCCGCTGACCTCTGCGGGACTTTAA
AAATCTATTCAGATATTTCCGAGTAAGTGGCTTGTTTAAATTCTTCCTGTGTCTTTCTTTATTC
CTTAATTGGTTGGTGGAAAGAAGAGATGCTTGGGAACCTTGGGTTCTTAGGTTTGGATTCTTTA
ATAATATCTAAAAAGCTAAATTTTAAATACCAGCTTTACATAAATGATTGTTGACTCTGGTCTG
TTTCTGACACCTTTCCAGAAAAAAGTCAATTGTTCAGGTACACCAAAGAGGAAGAAGAGCTGTG
GAGGCCACCCTCTACAAAGCTTTATAGAACTTCTGGATCTAACTCACAAACAAGCTTCCAGAAG
AGACTAGAGACCTTAGGCCAGGAGATGAAGGAGTTCAGTAGCAAAGTCACACCTGTCCAATTCC
CTGAGCTTTGCTCACTCAGCTAATGGGATGGCAAAGGTGGTGGTGCTTTCATCTTCAGGCAGAA
GCCTCTGCCCATCCCCCTCAAGGGCTGCAGGCCCAGTTCTCATGCTGCCCTTGGGTGGGCATCT
GTTAACAGAGGAGAACGTCTGGGTGGCGGCAGCAGCTTTGCTCTGAGTGCCTACAAAGCTAATG
CTTGGTGCTAGAAACATCATCATTATTAAACTTCAGAAAAGCAGCAGCCATGTTCAGTCAGGCT
CATGCTGCCTCACTGCTTAAGTGCCTGCAGGAGCCGCCTGCCAAGCTCCCCTTCCTACACCTGG
CACACTGGGGTCTGCACAAGGCTTTGTCAACCAAAGACAGCTTCCCCCTTTTGATTGCCTGTAG
ACTTTGGAGCCAAGAAACACTCTGTGTGACTCTACACACACTTCAGGTGGTTTGTGCTTCAAAG
TCATTGATGCAACTTGAAAGGAAACAGTTTAATGGTGGAAATGAACTACCATTTATAACTTCTG
TTTTTTTATTGAGAAAATGATTCACGAATTCCAAATCAGATTGCCAGGAAGAAATAGGACGTGA
CGGTACTGGGCCCTGTGATTCTCCCAGCCCTTGCAGTCCGCTAGGTGAGAGGAAAAGCTCTTTA
CTTCCGCCCCTGGCAGGGACTTCTGGGTTATGGGAGAAACCAGAGATGGGAATGAGGAAAATAT
GAACTACAGCAGAAGCCCCTGGGCAGCTGTGATGGAGCCCCTGACATTACTCTTCTTGCATCTG
TCCTGCCTTCTTTCCCTCTGCGAGGCAGTGGGGTGGGATTCAGAGTGCTTAGTCTGCTCACTGG
GAGAAGAAGAGTTCCTGCGCATGCAAGCCCTGCTGTGTGGCTGTCGTTTACATTTGGGAGGTGT
CCTGTATGTCTGTACGTTGGGGACTGCCTGTATTTGGAAGATTTAAAAACCTAGCATCCTGTTC
TCACCCTCTAAGCTGCATTGAGAAATGACTCGTCTCTGTATTTGTATTAAGCCTTAACACTTTT
CTTAAGTGCATTCGGTGCCAACATTTTTTAGAGCTGTACCAAAACAAAAAGCCTGTACTCACAT
CACAATGTCATTTTGATAGGAGCGTTTTGTTATTTTTACAAGGCAGAATGGGGTGTAACAGTTG
AATTAAACTTAGCAATCACGTGCTCAGAGCTTTTGCCTGTCAGTTGTGTGTGTCCCTTATAGTC
CCTTCCCCCACAGCTCTTGCTGAAAGAGTTTGCCTTGTTTTGTTTTGTTGTTTTGTATTTAGCC
AGAGGATGCCAAAATTAGTCTTCTCAAAGCTTTGAGTAGAGTAAGTGTGGGAATAAGCCAGTTT
TTTTTTTTCTGTTTCTGTAACTTAAATGAACGGGTTTTTTTCCCTTGTATGCCACTTGTCCTAA
CATGTCCTTAAGGTGTTTAACCTGCCTCTGACCTGGCTTGCAATGCATAGGTGAGGAGAAGCAG
AGAGCTTGTCATATGCAAGTCCTGTCAAGAAAACAGGTGGGCATGGTGGCTCAGGTCTGTAGTC
TTTGGGTCTTTGGGAGGCCAGGGTGGGAGGATCACTTGAGCTCAGGAGTTTGAGACCAGCCTAG
ACAACATACTACGACCCTGTCTATACAAAAAAAAACTTCTCTAAATTAGCCGGATGTGGTGGTG
CATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGTGAGGCAGGAGGATCACTTGAGACCAGGAG
GTTGTGGCTGTAGTGAGTGATGATCATGCCACTGCACTTCAGCCTGGACCACAGAGCAAGACCC
TGTGTAAAAAAATAAAATAAAAAACAGATTGGATGTCTTTCTTCTGA

hide sequence

Protein Sequences


Protein RefSeqs	NP_653171	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH14438	(Get FASTA)	NCBI Sequence Viewer
	AAH60853	(Get FASTA)	NCBI Sequence Viewer
	AAK61288	(Get FASTA)	NCBI Sequence Viewer
	AAK61289	(Get FASTA)	NCBI Sequence Viewer
	AAP72616	(Get FASTA)	NCBI Sequence Viewer
	AAP83791	(Get FASTA)	NCBI Sequence Viewer
	AAP83792	(Get FASTA)	NCBI Sequence Viewer
	AAT06741	(Get FASTA)	NCBI Sequence Viewer
	BAB14434	(Get FASTA)	NCBI Sequence Viewer
	BAG59447	(Get FASTA)	NCBI Sequence Viewer
	BAG59536	(Get FASTA)	NCBI Sequence Viewer
	BAG64855	(Get FASTA)	NCBI Sequence Viewer
	BAG64940	(Get FASTA)	NCBI Sequence Viewer
	BAH14885	(Get FASTA)	NCBI Sequence Viewer
	CAM57895	(Get FASTA)	NCBI Sequence Viewer
	EAW85634	(Get FASTA)	NCBI Sequence Viewer
	EAW85635	(Get FASTA)	NCBI Sequence Viewer
	EAW85636	(Get FASTA)	NCBI Sequence Viewer
	EAW85637	(Get FASTA)	NCBI Sequence Viewer
	EAW85638	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000248098
	ENSP00000248098.3
	ENSP00000372157.4
	ENSP00000372158.5
	ENSP00000454459.1
	ENSP00000454529.1
	ENSP00000454567.1
	ENSP00000456487.1
	ENSP00000457344.1
	ENSP00000457424.1
	ENSP00000457536.1
	ENSP00000457694.1
GenBank Protein	Q9H910	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_653171 ⟸ NM_144570
- UniProtKB:	Q9H910 (UniProtKB/Swiss-Prot), Q6EIC7 (UniProtKB/Swiss-Prot), B4DLH4 (UniProtKB/Swiss-Prot), B1AJY2 (UniProtKB/Swiss-Prot), A6NGP5 (UniProtKB/TrEMBL), B4E1X8 (UniProtKB/TrEMBL)
- Sequence:	show sequence MFQVPDSEGGRAGSRAMKPPGGESSNLFGSPEEATPSSRPNRMASNIFGPTEEPQNIPKRTNPP GGKGSGIFDESTPVQTRQHLNPPGGKTSDIFGSPVTATSRLAHPNKPKDHVFLCEGEEPKSDLK AARSIPAGAEPGEKGSARKAGPAKEQEPMPTVDSHEPRLGPRPRSHNKVLNPPGGKSSISFY hide sequence

Ensembl Acc Id:

ENSP00000457536 ⟸ ENST00000569765

Ensembl Acc Id:

ENSP00000454459 ⟸ ENST00000561516

Ensembl Acc Id:

ENSP00000248098 ⟸ ENST00000248098

Ensembl Acc Id:

ENSP00000457694 ⟸ ENST00000562684

Ensembl Acc Id:

ENSP00000457344 ⟸ ENST00000562569

Ensembl Acc Id:

ENSP00000457424 ⟸ ENST00000565851

Ensembl Acc Id:

ENSP00000454529 ⟸ ENST00000566691

Ensembl Acc Id:

ENSP00000456487 ⟸ ENST00000566925

Ensembl Acc Id:

ENSP00000454567 ⟸ ENST00000566742

Ensembl Acc Id:

ENSP00000372157 ⟸ ENST00000382710

Ensembl Acc Id:

ENSP00000372158 ⟸ ENST00000382711

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9H910-F1-model_v2	AlphaFold	Q9H910	1-190	view protein structure

Promoters

RGD ID:

6793200

Promoter ID:

HG_KWN:22722

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

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

Transcripts:

ENST00000382710, OTTHUMT00000109086, UC010BRT.1, UC010BRU.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	16	1,668,026 - 1,668,526 (+)	MPROMDB

RGD ID:

7230921

Promoter ID:

EPDNEW_H21206

Type:

initiation region

Name:

HN1L_1

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H21207

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	1,678,279 - 1,678,339	EPDNEW

RGD ID:

7230923

Promoter ID:

EPDNEW_H21207

Type:

initiation region

Name:

HN1L_2

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H21206

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	1,680,363 - 1,680,423	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:14137	AgrOrtholog
COSMIC	JPT2	COSMIC
Ensembl Genes	ENSG00000206053	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000248098	ENTREZGENE
	ENST00000248098.8	UniProtKB/Swiss-Prot
	ENST00000382710.8	UniProtKB/TrEMBL
	ENST00000382711.9	UniProtKB/Swiss-Prot
	ENST00000561516.5	UniProtKB/TrEMBL
	ENST00000562569.1	UniProtKB/TrEMBL
	ENST00000562684.5	UniProtKB/Swiss-Prot
	ENST00000565851.5	UniProtKB/TrEMBL
	ENST00000566691.5	UniProtKB/TrEMBL
	ENST00000566742.5	UniProtKB/TrEMBL
	ENST00000566925.5	UniProtKB/TrEMBL
	ENST00000569765.5	UniProtKB/TrEMBL
GTEx	ENSG00000206053	GTEx
HGNC ID	HGNC:14137	ENTREZGENE
Human Proteome Map	JPT2	Human Proteome Map
InterPro	JUPITER	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:90861	UniProtKB/Swiss-Prot
NCBI Gene	JPT2	ENTREZGENE
OMIM	619241	OMIM
PANTHER	JUPITER MICROTUBULE ASSOCIATED HOMOLOG 2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PTHR34930	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	JUPITER	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA162391043	PharmGKB
UniProt	A6NGP5	ENTREZGENE, UniProtKB/TrEMBL
	B1AJY2	ENTREZGENE
	B4DLH4	ENTREZGENE
	B4E1P3_HUMAN	UniProtKB/TrEMBL
	B4E1X8	ENTREZGENE
	H3BMM8_HUMAN	UniProtKB/TrEMBL
	H3BMT0_HUMAN	UniProtKB/TrEMBL
	H3BMV3_HUMAN	UniProtKB/TrEMBL
	H3BS08_HUMAN	UniProtKB/TrEMBL
	H3BTV5_HUMAN	UniProtKB/TrEMBL
	H3BU16_HUMAN	UniProtKB/TrEMBL
	JUPI2_HUMAN	UniProtKB/Swiss-Prot
	Q6EIC7	ENTREZGENE
	Q9H910	ENTREZGENE
UniProt Secondary	B1AJY2	UniProtKB/Swiss-Prot
	B4DLH4	UniProtKB/Swiss-Prot
	B4E1X8	UniProtKB/TrEMBL
	Q6EIC7	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2017-03-28	JPT2	Jupiter microtubule associated homolog 2	HN1L	hematological and neurological expressed 1 like	Symbol and/or name change	5135510	APPROVED
2016-07-26	HN1L	hematological and neurological expressed 1 like		hematological and neurological expressed 1-like	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 Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

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