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Gene: ISM2 (isthmin 2) Homo sapiens

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Symbol:

ISM2

Name:

isthmin 2

RGD ID:

1603577

HGNC Page

HGNC:23176

Description:

Predicted to be located in extracellular region.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

DKFZp686E0215; FLJ32147; isthmin 2 homolog; isthmin-2; MGC119416; TAIL1; thrombospondin and AMOP containing isthmin-like 1; thrombospondin and AMOP domain-containing isthmin-like protein 1; thrombospondin type-1 domain-containing protein 3; thrombospondin, type I domain-containing 3; thrombospondin, type I, domain containing 3; THSD3

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):	Ism2 (isthmin 2)	HGNC	EggNOG, Ensembl, HGNC, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Rattus norvegicus (Norway rat):	Ism2 (isthmin 2)	HGNC	Ensembl, NCBI, OMA, OrthoDB, Panther
Chinchilla lanigera (long-tailed chinchilla):	Ism2 (isthmin 2)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	ISM2 (isthmin 2)	NCBI	Ortholog
Canis lupus familiaris (dog):	ISM2 (isthmin 2)	HGNC	NCBI
Sus scrofa (pig):	ISM2 (isthmin 2)	HGNC	NCBI
Chlorocebus sabaeus (green monkey):	ISM2 (isthmin 2)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Ism2 (isthmin 2)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Ism2 (isthmin 2)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Ism2 (isthmin 2)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	ism2a (isthmin 2a)	Alliance	DIOPT (Hieranoid\|OrthoFinder\|PANTHER\|ZFIN)
Danio rerio (zebrafish):	ism2b (isthmin 2b)	Alliance	DIOPT (Hieranoid\|OMA\|OrthoFinder\|PANTHER\|ZFIN)
Xenopus laevis (African clawed frog):	ism2.L	Alliance	DIOPT (Xenbase)
Xenopus tropicalis (tropical clawed frog):	ism2	Alliance	DIOPT (Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)

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	14	77,474,394 - 77,498,816 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	14	77,474,394 - 77,498,816 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	14	77,940,737 - 77,965,159 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	14	77,010,490 - 77,034,912 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	14	57,979,296 - 58,003,790 (-)	NCBI		Celera
Cytogenetic Map	14	q24.3	NCBI
HuRef	14	58,106,707 - 58,131,206 (-)	NCBI		HuRef
CHM1_1	14	77,880,200 - 77,904,683 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	14	71,683,769 - 71,708,201 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
ISM2	Human	hereditary sensory and autonomic neuropathy type 1C		IAGP	RGD:14701966\|RGD:151856589	8554872	ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 1C	ClinVar	PMID:28492532

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
ISM2	Human	1,2,4-trichloro-5-(2,5-dichlorophenyl)benzene	multiple interactions	ISO	RGD:1618998	6480464	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with more ...	CTD	PMID:25510870
ISM2	Human	17beta-estradiol	decreases expression	EXP		6480464	Estradiol results in decreased expression of ISM2 mRNA	CTD	PMID:20106945\|PMID:21632981
ISM2	Human	2,2',4,4',5,5'-hexachlorobiphenyl	multiple interactions	ISO	RGD:1618998	6480464	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with more ...	CTD	PMID:25510870
ISM2	Human	2,2',5,5'-tetrachlorobiphenyl	multiple interactions	ISO	RGD:1618998	6480464	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with more ...	CTD	PMID:25510870
ISM2	Human	2,3,7,8-tetrachlorodibenzodioxine	increases expression	ISO	RGD:1618998	6480464	Tetrachlorodibenzodioxin results in increased expression of ISM2 mRNA	CTD	PMID:26290441
ISM2	Human	2,3,7,8-tetrachlorodibenzodioxine	decreases expression	ISO	RGD:1589343	6480464	Tetrachlorodibenzodioxin results in decreased expression of ISM2 mRNA	CTD	PMID:33387578
ISM2	Human	2,3,7,8-tetrachlorodibenzodioxine	increases expression	EXP		6480464	Tetrachlorodibenzodioxin results in increased expression of ISM2 mRNA	CTD	PMID:30096437
ISM2	Human	2,3,7,8-tetrachlorodibenzodioxine	affects expression	ISO	RGD:1618998	6480464	Tetrachlorodibenzodioxin affects the expression of ISM2 mRNA	CTD	PMID:26377647
ISM2	Human	2,4,4'-trichlorobiphenyl	multiple interactions	ISO	RGD:1618998	6480464	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with more ...	CTD	PMID:25510870
ISM2	Human	2,4-D	multiple interactions	ISO	RGD:1618998	6480464	[lard co-treated with Cholesterol, Dietary co-treated with Dietary Sucrose co-treated with Fructose co-treated with Glucose more ...	CTD	PMID:37567420
ISM2	Human	Aflatoxin B2 alpha	increases methylation	EXP		6480464	aflatoxin B2 results in increased methylation of ISM2 intron	CTD	PMID:30157460
ISM2	Human	aldehydo-D-glucose	multiple interactions	ISO	RGD:1618998	6480464	[lard co-treated with Cholesterol, Dietary co-treated with Dietary Sucrose co-treated with Fructose co-treated with Glucose more ...	CTD	PMID:37567420
ISM2	Human	benzo[a]pyrene	increases methylation	EXP		6480464	Benzo(a)pyrene results in increased methylation of ISM2 exon	CTD	PMID:27901495
ISM2	Human	benzo[a]pyrene	affects methylation	EXP		6480464	Benzo(a)pyrene affects the methylation of ISM2 intron; Benzo(a)pyrene affects the methylation of ISM2 promoter	CTD	PMID:27901495\|PMID:30157460
ISM2	Human	benzo[e]pyrene	increases methylation	EXP		6480464	benzo(e)pyrene results in increased methylation of ISM2 intron	CTD	PMID:30157460
ISM2	Human	beta-naphthoflavone	decreases expression	EXP		6480464	beta-Naphthoflavone results in decreased expression of ISM2 mRNA	CTD	PMID:32858204
ISM2	Human	bisphenol A	decreases expression	ISO	RGD:1589343	6480464	bisphenol A results in decreased expression of ISM2 mRNA	CTD	PMID:25181051
ISM2	Human	bisphenol A	affects expression	EXP		6480464	bisphenol A affects the expression of ISM2 mRNA	CTD	PMID:30903817
ISM2	Human	cyclosporin A	decreases expression	EXP		6480464	Cyclosporine results in decreased expression of ISM2 mRNA	CTD	PMID:20106945\|PMID:21632981\|PMID:25562108
ISM2	Human	D-glucose	multiple interactions	ISO	RGD:1618998	6480464	[lard co-treated with Cholesterol, Dietary co-treated with Dietary Sucrose co-treated with Fructose co-treated with Glucose more ...	CTD	PMID:37567420
ISM2	Human	fructose	multiple interactions	ISO	RGD:1618998	6480464	[lard co-treated with Cholesterol, Dietary co-treated with Dietary Sucrose co-treated with Fructose co-treated with Glucose more ...	CTD	PMID:37567420
ISM2	Human	glucose	multiple interactions	ISO	RGD:1618998	6480464	[lard co-treated with Cholesterol, Dietary co-treated with Dietary Sucrose co-treated with Fructose co-treated with Glucose more ...	CTD	PMID:37567420
ISM2	Human	methapyrilene	increases methylation	EXP		6480464	Methapyrilene results in increased methylation of ISM2 intron	CTD	PMID:30157460
ISM2	Human	paracetamol	decreases expression	ISO	RGD:1589343	6480464	Acetaminophen results in decreased expression of ISM2 mRNA	CTD	PMID:33387578
ISM2	Human	PCB138	multiple interactions	ISO	RGD:1618998	6480464	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with more ...	CTD	PMID:25510870
ISM2	Human	pioglitazone	increases expression	EXP		6480464	Pioglitazone results in increased expression of ISM2 mRNA	CTD	PMID:30031879
ISM2	Human	quercetin	decreases expression	EXP		6480464	Quercetin results in decreased expression of ISM2 mRNA	CTD	PMID:21632981
ISM2	Human	resveratrol	multiple interactions	EXP		6480464	[Plant Extracts co-treated with Resveratrol] results in decreased expression of ISM2 mRNA	CTD	PMID:23557933
ISM2	Human	sodium arsenite	multiple interactions	EXP		6480464	sodium arsenite results in decreased expression of and affects the splicing of ISM2 mRNA	CTD	PMID:25879800
ISM2	Human	sodium arsenite	decreases expression	ISO	RGD:1618998	6480464	sodium arsenite results in decreased expression of ISM2 mRNA	CTD	PMID:37682722
ISM2	Human	sotorasib	multiple interactions	EXP		6480464	[sotorasib co-treated with trametinib co-treated with NVP-BKM120] results in decreased expression of ISM2 mRNA	CTD	PMID:36139627
ISM2	Human	trametinib	multiple interactions	EXP		6480464	[sotorasib co-treated with trametinib co-treated with NVP-BKM120] results in decreased expression of ISM2 mRNA	CTD	PMID:36139627
ISM2	Human	trichloroethene	increases expression	ISO	RGD:1589343	6480464	Trichloroethylene results in increased expression of ISM2 mRNA	CTD	PMID:33387578
ISM2	Human	triptonide	increases expression	ISO	RGD:1618998	6480464	triptonide results in increased expression of ISM2 mRNA	CTD	PMID:33045310
ISM2	Human	tris(2-butoxyethyl) phosphate	affects expression	EXP		6480464	tris(2-butoxyethyl) phosphate affects the expression of ISM2 mRNA	CTD	PMID:29024780
ISM2	Human	zoledronic acid	decreases expression	EXP		6480464	zoledronic acid results in decreased expression of ISM2 mRNA	CTD	PMID:24714768

Cellular Component

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
ISM2	Human	extracellular region	located_in	IEA	UniProtKB-KW:KW-0964	150520179		UniProt	GO_REF:0000043
ISM2	Human	extracellular region	located_in	IEA	UniProtKB-SubCell:SL-0243	150520179		UniProt	GO_REF:0000044

Molecular Function

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
ISM2	Human	protein binding	enables	IPI	UniProtKB:Q9NY72	150520179	PMID:32296183	IntAct	PMID:32296183

#	Reference Title	Reference Citation
1.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

PMID:7687569	PMID:12477932	PMID:14702039	PMID:15194193	PMID:16303743	PMID:16344560	PMID:18029348	PMID:31586073	PMID:32296183	PMID:33961781

ISM2
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	14	77,474,394 - 77,498,816 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	14	77,474,394 - 77,498,816 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	14	77,940,737 - 77,965,159 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	14	77,010,490 - 77,034,912 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	14	57,979,296 - 58,003,790 (-)	NCBI		Celera
Cytogenetic Map	14	q24.3	NCBI
HuRef	14	58,106,707 - 58,131,206 (-)	NCBI		HuRef
CHM1_1	14	77,880,200 - 77,904,683 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	14	71,683,769 - 71,708,201 (-)	NCBI		T2T-CHM13v2.0

Ism2
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	12	87,325,412 - 87,346,624 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	12	87,325,412 - 87,346,479 (-)	Ensembl		GRCm39 Ensembl
GRCm38	12	87,278,638 - 87,299,850 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	12	87,278,638 - 87,299,705 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	12	88,620,632 - 88,636,022 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	12	88,168,785 - 88,184,175 (-)	NCBI		MGSCv36	mm8
Celera	12	88,744,402 - 88,759,631 (-)	NCBI		Celera
Cytogenetic Map	12	D2	NCBI
cM Map	12	41.49	NCBI

Ism2
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	6	112,652,772 - 112,675,098 (-)	NCBI		GRCr8
mRatBN7.2	6	106,921,213 - 106,944,291 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	6	106,926,175 - 106,944,514 (-)	Ensembl		mRatBN7.2 Ensembl
Rnor_6.0	6	111,309,054 - 111,329,967 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	6	111,310,060 - 111,329,882 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	6	120,586,133 - 120,611,782 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
Celera	6	104,746,344 - 104,764,733 (-)	NCBI		Celera
Cytogenetic Map	6	q31	NCBI

Ism2
(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	NW_004955438	1,363,508 - 1,376,968 (-)	NCBI	ChiLan1.0	ChiLan1.0

ISM2
(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	15	78,560,475 - 78,584,154 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	14	77,776,965 - 77,800,642 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	14	58,029,440 - 58,053,073 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	14	77,230,069 - 77,252,394 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	14	77,230,069 - 77,252,368 (-)	Ensembl	panpan1.1		panPan2

ISM2
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	8	50,269,078 - 50,285,873 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
Dog10K_Boxer_Tasha	8	49,956,867 - 49,973,644 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	8	50,503,065 - 50,519,870 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	8	50,503,962 - 50,519,895 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	8	50,165,496 - 50,182,266 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	8	50,188,714 - 50,205,999 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	8	50,586,593 - 50,603,573 (-)	NCBI		UU_Cfam_GSD_1.0

ISM2
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1	7	100,523,519 - 100,541,433 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	7	106,745,279 - 106,753,546 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

ISM2
(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	24	54,735,712 - 54,757,242 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
Vero_WHO_p1.0	NW_023666053	42,926,081 - 42,948,283 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Ism2
(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_004624734	24,408,747 - 24,423,528 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624734	24,408,671 - 24,423,296 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in ISM2
67 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 14q24.3(chr14:73877072-78042422)x1	copy number loss	See cases [RCV000051548]	Chr14:73877072..78042422 [GRCh38] Chr14:74343775..78508765 [GRCh37] Chr14:73413528..77578518 [NCBI36] Chr14:14q24.3	pathogenic
GRCh38/hg38 14q24.3-31.1(chr14:75489052-79610332)x1	copy number loss	See cases [RCV000051549]	Chr14:75489052..79610332 [GRCh38] Chr14:75955395..80076675 [GRCh37] Chr14:75025148..79146428 [NCBI36] Chr14:14q24.3-31.1	pathogenic
GRCh38/hg38 14q24.2-32.2(chr14:72787506-99596719)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052293]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052293]\|See cases [RCV000052293]	Chr14:72787506..99596719 [GRCh38] Chr14:73254214..100063056 [GRCh37] Chr14:72323967..99132809 [NCBI36] Chr14:14q24.2-32.2	pathogenic
NM_182509.3(ISM2):c.310C>T (p.Pro104Ser)	single nucleotide variant	Malignant melanoma [RCV000062796]	Chr14:77484751 [GRCh38] Chr14:77951094 [GRCh37] Chr14:77020847 [NCBI36] Chr14:14q24.3	not provided
GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1	copy number loss	See cases [RCV000134154]	Chr14:69562099..81975384 [GRCh38] Chr14:70028816..82441728 [GRCh37] Chr14:69098569..81511481 [NCBI36] Chr14:14q24.1-31.1	pathogenic
GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	copy number gain	See cases [RCV000134000]	Chr14:73655772..106879298 [GRCh38] Chr14:74122475..107287505 [GRCh37] Chr14:73192228..106358550 [NCBI36] Chr14:14q24.3-32.33	pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	copy number gain	See cases [RCV000135543]	Chr14:20151149..106855263 [GRCh38] Chr14:20619308..107263478 [GRCh37] Chr14:19689148..106334523 [NCBI36] Chr14:14q11.2-32.33	pathogenic
GRCh38/hg38 14q24.3-31.1(chr14:77193005-80476132)x1	copy number loss	See cases [RCV000137421]	Chr14:77193005..80476132 [GRCh38] Chr14:77659348..80942475 [GRCh37] Chr14:76729101..80012228 [NCBI36] Chr14:14q24.3-31.1	likely pathogenic
GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	copy number gain	See cases [RCV000138230]	Chr14:77222795..106879298 [GRCh38] Chr14:77689138..107287505 [GRCh37] Chr14:76758891..106358550 [NCBI36] Chr14:14q24.3-32.33	pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	copy number gain	See cases [RCV000143373]	Chr14:20043514..106877229 [GRCh38] Chr14:20511673..107285437 [GRCh37] Chr14:19581513..106356482 [NCBI36] Chr14:14q11.2-32.33	pathogenic
GRCh38/hg38 14q24.3-31.1(chr14:73343213-78835059)x1	copy number loss	See cases [RCV000143265]	Chr14:73343213..78835059 [GRCh38] Chr14:73809921..79301402 [GRCh37] Chr14:72879674..78371155 [NCBI36] Chr14:14q24.3-31.1	pathogenic\|likely pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	copy number gain	See cases [RCV000446256]	Chr14:19794561..107234280 [GRCh37] Chr14:14q11.2-32.33	pathogenic
GRCh37/hg19 14q23.2-32.33(chr14:62493932-107285437)x3	copy number gain	See cases [RCV000448557]	Chr14:62493932..107285437 [GRCh37] Chr14:14q23.2-32.33	pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	copy number gain	See cases [RCV000512041]	Chr14:20511673..107285437 [GRCh37] Chr14:14q11.2-32.33	pathogenic
GRCh37/hg19 14q24.3(chr14:76082940-78372356)x1	copy number loss	See cases [RCV000511668]	Chr14:76082940..78372356 [GRCh37] Chr14:14q24.3	uncertain significance
NM_199296.3(ISM2):c.581C>T (p.Pro194Leu)	single nucleotide variant	not specified [RCV004304182]	Chr14:77484369 [GRCh38] Chr14:77950712 [GRCh37] Chr14:14q24.3	uncertain significance
NM_199296.3(ISM2):c.1172G>A (p.Arg391His)	single nucleotide variant	not specified [RCV004321865]	Chr14:77478268 [GRCh38] Chr14:77944611 [GRCh37] Chr14:14q24.3	likely benign
GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3	copy number gain	See cases [RCV000512497]	Chr14:73750741..107285437 [GRCh37] Chr14:14q24.2-32.33	pathogenic
GRCh37/hg19 14q24.3(chr14:77906706-78161647)x3	copy number gain	not provided [RCV000683596]	Chr14:77906706..78161647 [GRCh37] Chr14:14q24.3	uncertain significance
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3	copy number gain	not provided [RCV000738412]	Chr14:19000422..107289053 [GRCh37] Chr14:14q11.1-32.33	pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3	copy number gain	not provided [RCV000738413]	Chr14:19280733..107287663 [GRCh37] Chr14:14q11.2-32.33	pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3	copy number gain	not provided [RCV000738414]	Chr14:19327823..107287663 [GRCh37] Chr14:14q11.2-32.33	pathogenic
NC_000014.8:g.(?_77743699)_(78082942_?)dup	duplication	Neuropathy, hereditary sensory and autonomic, type 1C [RCV000820601]	Chr14:77277356..77616599 [GRCh38] Chr14:77743699..78082942 [GRCh37] Chr14:14q24.3	uncertain significance
GRCh37/hg19 14q24.3-32.11(chr14:77274990-89803137)x1	copy number loss	not provided [RCV000847566]	Chr14:77274990..89803137 [GRCh37] Chr14:14q24.3-32.11	pathogenic
NM_199296.3(ISM2):c.797G>A (p.Gly266Glu)	single nucleotide variant	not provided [RCV000888175]	Chr14:77482498 [GRCh38] Chr14:77948841 [GRCh37] Chr14:14q24.3	benign
NM_199296.3(ISM2):c.397C>G (p.Pro133Ala)	single nucleotide variant	not provided [RCV000957908]	Chr14:77484553 [GRCh38] Chr14:77950896 [GRCh37] Chr14:14q24.3	benign
GRCh37/hg19 14q24.3(chr14:77862909-78274607)	copy number gain	not specified [RCV002053114]	Chr14:77862909..78274607 [GRCh37] Chr14:14q24.3	uncertain significance
NC_000014.8:g.(?_77743719)_(78082922_?)del	deletion	Neuropathy, hereditary sensory and autonomic, type 1C [RCV001996609]	Chr14:77743719..78082922 [GRCh37] Chr14:14q24.3	uncertain significance
NC_000014.8:g.(?_77893959)_(78082922_?)del	deletion	not provided [RCV003109860]	Chr14:77893959..78082922 [GRCh37] Chr14:14q24.3	pathogenic
GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	copy number gain	See cases [RCV002286356]	Chr14:37671058..106985955 [GRCh37] Chr14:14q13.3-32.33	pathogenic
NM_199296.3(ISM2):c.594C>G (p.His198Gln)	single nucleotide variant	not specified [RCV004313765]	Chr14:77484356 [GRCh38] Chr14:77950699 [GRCh37] Chr14:14q24.3	uncertain significance
NM_199296.3(ISM2):c.1645G>A (p.Gly549Ser)	single nucleotide variant	not specified [RCV004244137]	Chr14:77475666 [GRCh38] Chr14:77942009 [GRCh37] Chr14:14q24.3	uncertain significance
NM_199296.3(ISM2):c.730G>A (p.Ala244Thr)	single nucleotide variant	not specified [RCV004191086]	Chr14:77482565 [GRCh38] Chr14:77948908 [GRCh37] Chr14:14q24.3	uncertain significance
NM_199296.3(ISM2):c.1087C>T (p.Arg363Cys)	single nucleotide variant	not specified [RCV004204210]	Chr14:77478602 [GRCh38] Chr14:77944945 [GRCh37] Chr14:14q24.3	uncertain significance
NM_199296.3(ISM2):c.907A>G (p.Thr303Ala)	single nucleotide variant	not specified [RCV004159606]	Chr14:77482388 [GRCh38] Chr14:77948731 [GRCh37] Chr14:14q24.3	uncertain significance
NM_199296.3(ISM2):c.365C>T (p.Thr122Ile)	single nucleotide variant	not specified [RCV004169812]	Chr14:77484696 [GRCh38] Chr14:77951039 [GRCh37] Chr14:14q24.3	uncertain significance
NM_199296.3(ISM2):c.149C>A (p.Ala50Asp)	single nucleotide variant	not specified [RCV004206721]	Chr14:77484912 [GRCh38] Chr14:77951255 [GRCh37] Chr14:14q24.3	uncertain significance
NM_199296.3(ISM2):c.1352G>T (p.Arg451Leu)	single nucleotide variant	not specified [RCV004167152]	Chr14:77475959 [GRCh38] Chr14:77942302 [GRCh37] Chr14:14q24.3	uncertain significance
NM_199296.3(ISM2):c.452A>C (p.His151Pro)	single nucleotide variant	not specified [RCV004137987]	Chr14:77484498 [GRCh38] Chr14:77950841 [GRCh37] Chr14:14q24.3	uncertain significance
NM_199296.3(ISM2):c.613A>G (p.Asn205Asp)	single nucleotide variant	not specified [RCV004186524]	Chr14:77484337 [GRCh38] Chr14:77950680 [GRCh37] Chr14:14q24.3	uncertain significance
NM_199296.3(ISM2):c.1051C>T (p.Arg351Trp)	single nucleotide variant	not specified [RCV004071043]	Chr14:77478638 [GRCh38] Chr14:77944981 [GRCh37] Chr14:14q24.3	uncertain significance
NM_199296.3(ISM2):c.317G>A (p.Arg106Gln)	single nucleotide variant	not specified [RCV004077228]	Chr14:77484744 [GRCh38] Chr14:77951087 [GRCh37] Chr14:14q24.3	uncertain significance
NM_199296.3(ISM2):c.1465G>A (p.Ala489Thr)	single nucleotide variant	not specified [RCV004239604]	Chr14:77475846 [GRCh38] Chr14:77942189 [GRCh37] Chr14:14q24.3	uncertain significance
NM_199296.3(ISM2):c.506C>A (p.Ala169Asp)	single nucleotide variant	not specified [RCV004157836]	Chr14:77484444 [GRCh38] Chr14:77950787 [GRCh37] Chr14:14q24.3	uncertain significance
NM_199296.3(ISM2):c.1417C>T (p.Arg473Cys)	single nucleotide variant	not specified [RCV004082273]	Chr14:77475894 [GRCh38] Chr14:77942237 [GRCh37] Chr14:14q24.3	uncertain significance
NM_199296.3(ISM2):c.1237G>A (p.Asp413Asn)	single nucleotide variant	not specified [RCV004186096]	Chr14:77476074 [GRCh38] Chr14:77942417 [GRCh37] Chr14:14q24.3	uncertain significance
NM_199296.3(ISM2):c.1156T>C (p.Trp386Arg)	single nucleotide variant	not specified [RCV004083591]	Chr14:77478284 [GRCh38] Chr14:77944627 [GRCh37] Chr14:14q24.3	uncertain significance
NM_199296.3(ISM2):c.31C>G (p.Leu11Val)	single nucleotide variant	not specified [RCV004244330]	Chr14:77498763 [GRCh38] Chr14:77965106 [GRCh37] Chr14:14q24.3	uncertain significance
NM_199296.3(ISM2):c.551C>T (p.Thr184Ile)	single nucleotide variant	not specified [RCV004243854]	Chr14:77484399 [GRCh38] Chr14:77950742 [GRCh37] Chr14:14q24.3	uncertain significance
NM_199296.3(ISM2):c.316C>T (p.Arg106Trp)	single nucleotide variant	not specified [RCV004130283]	Chr14:77484745 [GRCh38] Chr14:77951088 [GRCh37] Chr14:14q24.3	uncertain significance
NM_199296.3(ISM2):c.1615C>T (p.Arg539Cys)	single nucleotide variant	not specified [RCV004213572]	Chr14:77475696 [GRCh38] Chr14:77942039 [GRCh37] Chr14:14q24.3	uncertain significance
NM_199296.3(ISM2):c.1360C>T (p.Arg454Trp)	single nucleotide variant	not specified [RCV004103549]	Chr14:77475951 [GRCh38] Chr14:77942294 [GRCh37] Chr14:14q24.3	uncertain significance
NM_199296.3(ISM2):c.341G>A (p.Gly114Glu)	single nucleotide variant	not specified [RCV004133740]	Chr14:77484720 [GRCh38] Chr14:77951063 [GRCh37] Chr14:14q24.3	uncertain significance
NM_199296.3(ISM2):c.1508G>A (p.Arg503His)	single nucleotide variant	not specified [RCV004263830]	Chr14:77475803 [GRCh38] Chr14:77942146 [GRCh37] Chr14:14q24.3	uncertain significance
NM_199296.3(ISM2):c.1384C>G (p.Arg462Gly)	single nucleotide variant	not specified [RCV004269736]	Chr14:77475927 [GRCh38] Chr14:77942270 [GRCh37] Chr14:14q24.3	uncertain significance
NM_199296.3(ISM2):c.784C>T (p.Pro262Ser)	single nucleotide variant	not specified [RCV004251315]	Chr14:77482511 [GRCh38] Chr14:77948854 [GRCh37] Chr14:14q24.3	uncertain significance
NM_199296.3(ISM2):c.1382C>T (p.Pro461Leu)	single nucleotide variant	not specified [RCV004322022]	Chr14:77475929 [GRCh38] Chr14:77942272 [GRCh37] Chr14:14q24.3	uncertain significance
NM_199296.3(ISM2):c.651C>G (p.Asp217Glu)	single nucleotide variant	not specified [RCV004258547]	Chr14:77482644 [GRCh38] Chr14:77948987 [GRCh37] Chr14:14q24.3	uncertain significance
NM_199296.3(ISM2):c.1351C>T (p.Arg451Cys)	single nucleotide variant	not specified [RCV004338132]	Chr14:77475960 [GRCh38] Chr14:77942303 [GRCh37] Chr14:14q24.3	uncertain significance
NM_199296.3(ISM2):c.1016G>A (p.Ser339Asn)	single nucleotide variant	not specified [RCV004348744]	Chr14:77478673 [GRCh38] Chr14:77945016 [GRCh37] Chr14:14q24.3	uncertain significance
NM_199296.3(ISM2):c.700C>G (p.Pro234Ala)	single nucleotide variant	not specified [RCV004348951]	Chr14:77482595 [GRCh38] Chr14:77948938 [GRCh37] Chr14:14q24.3	uncertain significance
NM_199296.3(ISM2):c.1522G>A (p.Gly508Ser)	single nucleotide variant	not specified [RCV004348272]	Chr14:77475789 [GRCh38] Chr14:77942132 [GRCh37] Chr14:14q24.3	uncertain significance
NM_199296.3(ISM2):c.1270C>T (p.Arg424Trp)	single nucleotide variant	not specified [RCV004345161]	Chr14:77476041 [GRCh38] Chr14:77942384 [GRCh37] Chr14:14q24.3	uncertain significance
NM_199296.3(ISM2):c.421G>A (p.Glu141Lys)	single nucleotide variant	not specified [RCV004345867]	Chr14:77484529 [GRCh38] Chr14:77950872 [GRCh37] Chr14:14q24.3	uncertain significance
GRCh37/hg19 14q24.3(chr14:77885734-78292290)x3	copy number gain	not provided [RCV003485045]	Chr14:77885734..78292290 [GRCh37] Chr14:14q24.3	uncertain significance
GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	copy number gain	not provided [RCV003485036]	Chr14:58894502..107227240 [GRCh37] Chr14:14q23.1-32.33	pathogenic
NM_199296.3(ISM2):c.103C>T (p.Arg35Cys)	single nucleotide variant	not specified [RCV004405412]	Chr14:77498691 [GRCh38] Chr14:77965034 [GRCh37] Chr14:14q24.3	uncertain significance
NM_199296.3(ISM2):c.1134C>T (p.Thr378=)	single nucleotide variant	not specified [RCV004405413]	Chr14:77478306 [GRCh38] Chr14:77944649 [GRCh37] Chr14:14q24.3	likely benign
NM_199296.3(ISM2):c.1352G>A (p.Arg451His)	single nucleotide variant	not specified [RCV004405414]	Chr14:77475959 [GRCh38] Chr14:77942302 [GRCh37] Chr14:14q24.3	uncertain significance
NM_199296.3(ISM2):c.302A>C (p.Glu101Ala)	single nucleotide variant	not specified [RCV004405415]	Chr14:77484759 [GRCh38] Chr14:77951102 [GRCh37] Chr14:14q24.3	uncertain significance
NM_199296.3(ISM2):c.324G>C (p.Glu108Asp)	single nucleotide variant	not specified [RCV004405416]	Chr14:77484737 [GRCh38] Chr14:77951080 [GRCh37] Chr14:14q24.3	uncertain significance
NM_199296.3(ISM2):c.476A>C (p.His159Pro)	single nucleotide variant	not specified [RCV004405417]	Chr14:77484474 [GRCh38] Chr14:77950817 [GRCh37] Chr14:14q24.3	uncertain significance
NM_199296.3(ISM2):c.611C>T (p.Pro204Leu)	single nucleotide variant	not specified [RCV004405419]	Chr14:77484339 [GRCh38] Chr14:77950682 [GRCh37] Chr14:14q24.3	uncertain significance
NM_199296.3(ISM2):c.698C>T (p.Pro233Leu)	single nucleotide variant	not specified [RCV004405420]	Chr14:77482597 [GRCh38] Chr14:77948940 [GRCh37] Chr14:14q24.3	uncertain significance
NM_199296.3(ISM2):c.728C>T (p.Pro243Leu)	single nucleotide variant	not specified [RCV004405421]	Chr14:77482567 [GRCh38] Chr14:77948910 [GRCh37] Chr14:14q24.3	uncertain significance
NM_199296.3(ISM2):c.790G>A (p.Glu264Lys)	single nucleotide variant	not specified [RCV004405422]	Chr14:77482505 [GRCh38] Chr14:77948848 [GRCh37] Chr14:14q24.3	uncertain significance
NM_199296.3(ISM2):c.801G>C (p.Glu267Asp)	single nucleotide variant	not specified [RCV004405423]	Chr14:77482494 [GRCh38] Chr14:77948837 [GRCh37] Chr14:14q24.3	uncertain significance
NM_199296.3(ISM2):c.979G>A (p.Glu327Lys)	single nucleotide variant	not specified [RCV004405424]	Chr14:77478710 [GRCh38] Chr14:77945053 [GRCh37] Chr14:14q24.3	uncertain significance
NM_199296.3(ISM2):c.410C>T (p.Pro137Leu)	single nucleotide variant	not specified [RCV004633277]	Chr14:77484540 [GRCh38] Chr14:77950883 [GRCh37] Chr14:14q24.3	uncertain significance
NM_199296.3(ISM2):c.211C>G (p.Leu71Val)	single nucleotide variant	not specified [RCV004633281]	Chr14:77484850 [GRCh38] Chr14:77951193 [GRCh37] Chr14:14q24.3	uncertain significance
NM_199296.3(ISM2):c.1495C>T (p.Arg499Trp)	single nucleotide variant	not specified [RCV004626460]	Chr14:77475816 [GRCh38] Chr14:77942159 [GRCh37] Chr14:14q24.3	uncertain significance
NM_199296.3(ISM2):c.1175A>G (p.Asn392Ser)	single nucleotide variant	not specified [RCV004626461]	Chr14:77478265 [GRCh38] Chr14:77944608 [GRCh37] Chr14:14q24.3	uncertain significance
NC_000014.8:g.(?_76173946)_(78082922_?)dup	duplication	not provided [RCV004578223]	Chr14:76173946..78082922 [GRCh37] Chr14:14q24.3	uncertain significance
NM_199296.3(ISM2):c.1339G>A (p.Glu447Lys)	single nucleotide variant	not specified [RCV004633278]	Chr14:77475972 [GRCh38] Chr14:77942315 [GRCh37] Chr14:14q24.3	uncertain significance
NM_199296.3(ISM2):c.16G>A (p.Asp6Asn)	single nucleotide variant	not specified [RCV004633279]	Chr14:77498778 [GRCh38] Chr14:77965121 [GRCh37] Chr14:14q24.3	uncertain significance
NM_199296.3(ISM2):c.1678G>A (p.Glu560Lys)	single nucleotide variant	not specified [RCV004633280]	Chr14:77475633 [GRCh38] Chr14:77941976 [GRCh37] Chr14:14q24.3	uncertain significance
NM_199296.3(ISM2):c.1002C>G (p.Pro334=)	single nucleotide variant	not specified [RCV004927014]	Chr14:77478687 [GRCh38] Chr14:77945030 [GRCh37] Chr14:14q24.3	likely benign
NM_199296.3(ISM2):c.754G>C (p.Asp252His)	single nucleotide variant	not specified [RCV004927010]	Chr14:77482541 [GRCh38] Chr14:77948884 [GRCh37] Chr14:14q24.3	uncertain significance
NM_199296.3(ISM2):c.1640A>G (p.Asn547Ser)	single nucleotide variant	not specified [RCV004927011]	Chr14:77475671 [GRCh38] Chr14:77942014 [GRCh37] Chr14:14q24.3	uncertain significance
NM_199296.3(ISM2):c.449C>T (p.Thr150Ile)	single nucleotide variant	not specified [RCV004927015]	Chr14:77484501 [GRCh38] Chr14:77950844 [GRCh37] Chr14:14q24.3	uncertain significance
NM_199296.3(ISM2):c.695A>G (p.Asn232Ser)	single nucleotide variant	not specified [RCV004927016]	Chr14:77482600 [GRCh38] Chr14:77948943 [GRCh37] Chr14:14q24.3	uncertain significance
NM_199296.3(ISM2):c.1712A>G (p.Tyr571Cys)	single nucleotide variant	not specified [RCV004927009]	Chr14:77475599 [GRCh38] Chr14:77941942 [GRCh37] Chr14:14q24.3	uncertain significance
NM_199296.3(ISM2):c.1670T>C (p.Leu557Pro)	single nucleotide variant	not specified [RCV004927013]	Chr14:77475641 [GRCh38] Chr14:77941984 [GRCh37] Chr14:14q24.3	likely benign
NM_199296.3(ISM2):c.527C>A (p.Thr176Lys)	single nucleotide variant	not specified [RCV004927012]	Chr14:77484423 [GRCh38] Chr14:77950766 [GRCh37] Chr14:14q24.3	uncertain significance

Predicted Target Of

	Summary Value
Count of predictions:	6578
Count of miRNA genes:	940
Interacting mature miRNAs:	1148
Transcripts:	ENST00000216481, ENST00000342219, ENST00000393684, ENST00000412904, ENST00000429906, ENST00000471734, ENST00000472744, ENST00000480979, ENST00000487738, ENST00000493585, ENST00000554801
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.

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
406971637	GWAS620613_H	neutrophil count QTL GWAS620613 (human)		3e-12	neutrophil quantity (VT:0000222)	blood neutrophil count (CMO:0000030)	14	77495266	77495267	Human
406889452	GWAS538428_H	neutrophil percentage of leukocytes QTL GWAS538428 (human)		5e-09	neutrophil quantity (VT:0000222)	blood neutrophil count to total leukocyte count ratio (CMO:0000370)	14	77495266	77495267	Human
406963486	GWAS612462_H	neutrophil count, eosinophil count QTL GWAS612462 (human)		2e-12	eosinophil quantity (VT:0002602)	blood eosinophil count (CMO:0000033)	14	77495266	77495267	Human

G35758

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	14	77,960,553 - 77,960,722	UniSTS	GRCh37
Build 36	14	77,030,306 - 77,030,475	RGD	NCBI36
Celera	14	57,999,133 - 57,999,302	RGD
Cytogenetic Map	14	q24.3	UniSTS
HuRef	14	58,126,553 - 58,126,722	UniSTS

WI-17934

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	14	77,940,747 - 77,940,871	UniSTS	GRCh37
Build 36	14	77,010,500 - 77,010,624	RGD	NCBI36
Celera	14	57,979,306 - 57,979,430	RGD
Cytogenetic Map	14	q24.3	UniSTS
HuRef	14	58,106,717 - 58,106,841	UniSTS
GeneMap99-GB4 RH Map	14	213.9	UniSTS
Whitehead-RH Map	14	275.9	UniSTS

RH70052

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	14	77,941,071 - 77,941,191	UniSTS	GRCh37
Build 36	14	77,010,824 - 77,010,944	RGD	NCBI36
Celera	14	57,979,630 - 57,979,750	RGD
Cytogenetic Map	14	q24.3	UniSTS
HuRef	14	58,107,041 - 58,107,161	UniSTS
GeneMap99-GB4 RH Map	14	213.29	UniSTS
NCBI RH Map	14	898.1	UniSTS

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	renal system	reproductive system	respiratory system	sensory system	visual system
1091	1976	1984	1435	4423	1293	1683	6	248	1328	98	1983	4895	4849	41	3369	769	1687	1316	163	1


RefSeq Transcripts	NM_182509	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_199296	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011536489	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AF111168	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ583024	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK056709	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK075445	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK291600	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK300214	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC033140	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC101019	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC101020	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC101021	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC101022	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX248277	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX248280	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX248770	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX248771	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471061	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068264	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CR749863	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB025298	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HC007338	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	R93324	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000216481 ⟹ ENSP00000216481

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	77,474,394 - 77,498,816 (-)	Ensembl

Ensembl Acc Id:

ENST00000342219 ⟹ ENSP00000341490

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	77,474,394 - 77,498,816 (-)	Ensembl

Ensembl Acc Id:

ENST00000471734 ⟹ ENSP00000417679

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	77,482,591 - 77,498,666 (-)	Ensembl

Ensembl Acc Id:

ENST00000472744

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	77,483,827 - 77,498,807 (-)	Ensembl

Ensembl Acc Id:

ENST00000480979 ⟹ ENSP00000419434

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	77,484,400 - 77,498,758 (-)	Ensembl

Ensembl Acc Id:

ENST00000487738

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	77,475,840 - 77,482,899 (-)	Ensembl

Ensembl Acc Id:

ENST00000493585 ⟹ ENSP00000420452

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	77,475,249 - 77,498,816 (-)	Ensembl

Ensembl Acc Id:

ENST00000554801 ⟹ ENSP00000450791

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	77,482,496 - 77,498,816 (-)	Ensembl

RefSeq Acc Id:

NM_182509 ⟹ NP_872315

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	14	77,474,394 - 77,498,816 (-)	NCBI
GRCh37	14	77,940,737 - 77,965,210 (-)	RGD
Build 36	14	77,010,490 - 77,034,912 (-)	NCBI Archive
Celera	14	57,979,296 - 58,003,790 (-)	RGD
HuRef	14	58,106,707 - 58,131,206 (-)	ENTREZGENE
CHM1_1	14	77,880,200 - 77,904,683 (-)	NCBI
T2T-CHM13v2.0	14	71,683,769 - 71,708,201 (-)	NCBI

Sequence:

show sequence

AGAGCAGCCTCGGAACCGAGACGATGCGTGCGCTCCGCGACCGAGCCGGGCTCCTCCTCTGCGTGCTGCTGCTGGCGGCGCTGCTGGAGGCGGCGCTAGGGCTCCCCGTGAAGAAGCCGCGGCTCCGC
GGACCACGGCCTGGGAGCCTCACGAGGCTCGCAGAGGTCTCAGCCTCCCCAGATCCTAGGCCTCTGAAGGAAGAGGAGGAGGCACCACTGCTCCCCAGAACCCACCTGCAGGCAGAGCCACACCAACA
TGGATGCTGGACTGTCACTGAGCCAGCAGCCATGACCCCAGGCAACGCCACCCCTCCCAGGACCCCAGAGGTTACTCCGTTGCGGCTGGAGCTGCAGAAGCTGCCGGGATTGGCCAACACAACCTTGA
GTACCCCTAACCCTGATACCCAGGCTTCAGCCTCCCCAGATCCTAGGCCTCTGAGGGAAGAGGAGGAGGCACGACTGCTCCCCAGAACCCACCTGCAGGCAGAGCTACACCAACATGGATGTTGGACT
GTCACTGAGCCAGCAGCCCTGACCCCAGGGAATGCCACGCCTCCCAGGACCCAGGAGGTTACTCCCTTGCTGCTGGAGCTGCAGAAGCTGCCAGAATTGGTCCACGCAACCTTGAGTACCCCTAACCC
TGATAACCAGACTATGAGCCTCAGAAGGAGTGGAGTCCCTGGTCTCCCTGCAGTGGGAACTGCAGCACTGGCAAGCAGCAGAGGACTCGGCCCTGTGGCTATGGCTGCACTGCCACCGAGACCCGTAC
CTGTGACCTGCCCTCCTGTCCTGGCACTGAGGACAAGGACACCTTGGGCCTCCCCAGTGAGGAGTGGAAGCTCCTGGCCCGCAATGCTACGGACATGCATGATCAAGATGTGGACAGCTGTGAGAAGT
GGCTGAACTGCAAGAGCGACTTCCTAATCAAGTATCTGAGCCAGATGCTGCGGGACCTGCCCAGCTGCCCGTGTGCCTACCCACTGGAGGCCATGGACAGCCCTGTGAGCCTACAGGACGAGCACCAG
GGCCGCAGCTTCCGGTGGAGGGATGCCAGTGGCCCTCGCGAGCGCCTGGACATCTACCAGCCCACGGCGCGCTTCTGCCTGCGTTCCATGCTGTCTGGGGAGAGCAGCACACTGGCCGCCCAGCACTG
CTGCTATGACGAGGACAGCCGGCTGCTGACCCGTGGCAAGGGCGCCGGCATGCCCAACCTCATCAGCACCGACTTCTCACCTAAGCTGCACTTCAAGTTCGACACGACGCCCTGGATCCTGTGCAAGG
GGGACTGGAGCCGCCTCCACGCTGTGCTCCCTCCCAACAACGGCCGAGCCTGCACCGACAACCCCCTGGAGGAGGAGTACCTAGCACAGTTGCAGGAGGCCAAGGAGTACTAGTGACGGGGTTGCTGA
ACAGACACTGCAGGGAGAGGGCAGGCGGCTGCTGCTGTTGCACGGGAGAACTTTCCTCACCCGCCCCTGCCCAGACAGGGTGAGGAAAGGGCTCCCCCAGTGAGGTTGGTCCGAGGCTGTGTGCCCTC
TGCCAGCGACCCCGAAGCAGATATCTCAGTGGGGTTAGTGAGAAGGTTGAAGGGTATGTAGGGCCCAGGGTGGGTGTCCCTGGGAGCCCTGGAAATGTGCATATGTGCATGTGTCTGCCGGGGCCTCC
CTCTGCTGCCTGCTGGGACCCTGGCCACTCATTTTTCTCCTCCTTGGGAGCTGGGCTCTTCTGCCCTGGCTCTGCACATAAGTGTTAGCCAGCAGCTCCAGAAAAATCCCGATTCCCGGGATCTGCCA
CGAGTCACTCCTACTCCACCCTGATGGCCAGCAGAGGAAGGGCCACTCTTCTCATGGGCACAGCCATCCTTTGCCGGGGGGGGCATCCAGCCTGGGTGGCCACCCCTCCTTATCTCTGGGTGGTGCAC
ATGCCCTTCTTTCCCCACTCCCTGCCACGAGCCACTGCACAGGAGGCTATCTGTAGCCCCAAGCTGCCTTTCTGTTGGACACCAACTTTAGTCTTGGGCTGCAAGCCAGCCCAGCTGAGGCGAAGTGG
ACTCCAGGCAGGGAATGGGTTGCCCAATTCTGGTCCCTTTCCTTTGCTCAGCCCCCTCTGTTCTGCTGATTGTAGGGATGTGCAGGGCTGGGAGTTGGCACTCCCCCCGAGTGGGGAGGTGACAGCTT
GTCACAGTAGCCAGGCTTGGGTGGGTTCAGCACTAGCTCGGGACGGTGTGTCACACGTCTATAGTAAACCAGTTCTCTGGGAGGGGAAAAAAGCCCTGATTTATTGCATTTGGGCAGCTTCTGTGGTG
TAAATTCTCCCAGCAGTGTCCCATGTCATGCTGCCAGCATCACTGAATGCACTGAACTCAGAGTTGGGAAGAGATGCACATAATCGCTCTCCCGGCACACCTCATGCCTCTTCCCTGCCTCCCCATTC
CCCTGGCTGCACTTCCTTGCCTTCTATGGGGTTGAAATATTGAAGTCTCAACTGTCTCTGTTCACAAGAGCCACCAAAAGTTAGGGGACTTCAGTCCTAGCCCCCAGATGGCCGCCCTGAAGCTCTCT
GGGCTCCTCAGCAATAAAGCACTTTATTTTCAAA

hide sequence

RefSeq Acc Id:

NM_199296 ⟹ NP_954993

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	14	77,474,394 - 77,498,816 (-)	NCBI
GRCh37	14	77,940,737 - 77,965,210 (-)	RGD
Build 36	14	77,010,490 - 77,034,912 (-)	NCBI Archive
Celera	14	57,979,296 - 58,003,790 (-)	RGD
HuRef	14	58,106,707 - 58,131,206 (-)	ENTREZGENE
CHM1_1	14	77,880,200 - 77,904,683 (-)	NCBI
T2T-CHM13v2.0	14	71,683,769 - 71,708,201 (-)	NCBI

Sequence:

show sequence

AGAGCAGCCTCGGAACCGAGACGATGCGTGCGCTCCGCGACCGAGCCGGGCTCCTCCTCTGCGT
GCTGCTGCTGGCGGCGCTGCTGGAGGCGGCGCTAGGGCTCCCCGTGAAGAAGCCGCGGCTCCGCGGACCACGGCCTGGGAGCCTCACGAGGCTCGCAGAGGTCTCAGCCTCCCCAGATCCTAGGCCTC
TGAAGGAAGAGGAGGAGGCACCACTGCTCCCCAGAACCCACCTGCAGGCAGAGCCACACCAACATGGATGCTGGACTGTCACTGAGCCAGCAGCCATGACCCCAGGCAACGCCACCCCTCCCAGGACC
CCAGAGGTTACTCCGTTGCGGCTGGAGCTGCAGAAGCTGCCGGGATTGGCCAACACAACCTTGAGTACCCCTAACCCTGATACCCAGGCTTCAGCCTCCCCAGATCCTAGGCCTCTGAGGGAAGAGGA
GGAGGCACGACTGCTCCCCAGAACCCACCTGCAGGCAGAGCTACACCAACATGGATGTTGGACTGTCACTGAGCCAGCAGCCCTGACCCCAGGGAATGCCACGCCTCCCAGGACCCAGGAGGTTACTC
CCTTGCTGCTGGAGCTGCAGAAGCTGCCAGAATTGGTCCACGCAACCTTGAGTACCCCTAACCCTGATAACCAGGTGACCATCAAGGTGGTGGAGGACCCCCAGGCCGAGGTGTCGATAGACCTGTTG
GCTGAGCCCAGCAATCCCCCGCCCCAGGATACCCTTAGCTGGCTGCCCGCCCTCTGGTCCTTCCTCTGGGGAGACTACAAAGGAGAGGAAAAAGACAGGGCCCCAGGGGAGAAGGGGGAGGAAAAGGA
GGAAGACGAGGACTATCCTTCAGAGGATATCGAGGGTGAGGATCAAGAGGACAAAGAGGAAGATGAGGAAGAGCAGGCGCTCTGGTTCAATGGAACTACAGACAACTGGGACCAGGGCTGGCTGGCCC
CCGGGGATTGGGTCTTCAAGGATTCTGTCAGCTACGACTATGAGCCTCAGAAGGAGTGGAGTCCCTGGTCTCCCTGCAGTGGGAACTGCAGCACTGGCAAGCAGCAGAGGACTCGGCCCTGTGGCTAT
GGCTGCACTGCCACCGAGACCCGTACCTGTGACCTGCCCTCCTGTCCTGGCACTGAGGACAAGGACACCTTGGGCCTCCCCAGTGAGGAGTGGAAGCTCCTGGCCCGCAATGCTACGGACATGCATGA
TCAAGATGTGGACAGCTGTGAGAAGTGGCTGAACTGCAAGAGCGACTTCCTAATCAAGTATCTGAGCCAGATGCTGCGGGACCTGCCCAGCTGCCCGTGTGCCTACCCACTGGAGGCCATGGACAGCC
CTGTGAGCCTACAGGACGAGCACCAGGGCCGCAGCTTCCGGTGGAGGGATGCCAGTGGCCCTCGCGAGCGCCTGGACATCTACCAGCCCACGGCGCGCTTCTGCCTGCGTTCCATGCTGTCTGGGGAG
AGCAGCACACTGGCCGCCCAGCACTGCTGCTATGACGAGGACAGCCGGCTGCTGACCCGTGGCAAGGGCGCCGGCATGCCCAACCTCATCAGCACCGACTTCTCACCTAAGCTGCACTTCAAGTTCGA
CACGACGCCCTGGATCCTGTGCAAGGGGGACTGGAGCCGCCTCCACGCTGTGCTCCCTCCCAACAACGGCCGAGCCTGCACCGACAACCCCCTGGAGGAGGAGTACCTAGCACAGTTGCAGGAGGCCA
AGGAGTACTAGTGACGGGGTTGCTGAACAGACACTGCAGGGAGAGGGCAGGCGGCTGCTGCTGTTGCACGGGAGAACTTTCCTCACCCGCCCCTGCCCAGACAGGGTGAGGAAAGGGCTCCCCCAGTG
AGGTTGGTCCGAGGCTGTGTGCCCTCTGCCAGCGACCCCGAAGCAGATATCTCAGTGGGGTTAGTGAGAAGGTTGAAGGGTATGTAGGGCCCAGGGTGGGTGTCCCTGGGAGCCCTGGAAATGTGCAT
ATGTGCATGTGTCTGCCGGGGCCTCCCTCTGCTGCCTGCTGGGACCCTGGCCACTCATTTTTCTCCTCCTTGGGAGCTGGGCTCTTCTGCCCTGGCTCTGCACATAAGTGTTAGCCAGCAGCTCCAGA
AAAATCCCGATTCCCGGGATCTGCCACGAGTCACTCCTACTCCACCCTGATGGCCAGCAGAGGAAGGGCCACTCTTCTCATGGGCACAGCCATCCTTTGCCGGGGGGGGCATCCAGCCTGGGTGGCCA
CCCCTCCTTATCTCTGGGTGGTGCACATGCCCTTCTTTCCCCACTCCCTGCCACGAGCCACTGCACAGGAGGCTATCTGTAGCCCCAAGCTGCCTTTCTGTTGGACACCAACTTTAGTCTTGGGCTGC
AAGCCAGCCCAGCTGAGGCGAAGTGGACTCCAGGCAGGGAATGGGTTGCCCAATTCTGGTCCCTTTCCTTTGCTCAGCCCCCTCTGTTCTGCTGATTGTAGGGATGTGCAGGGCTGGGAGTTGGCACT
CCCCCCGAGTGGGGAGGTGACAGCTTGTCACAGTAGCCAGGCTTGGGTGGGTTCAGCACTAGCTCGGGACGGTGTGTCACACGTCTATAGTAAACCAGTTCTCTGGGAGGGGAAAAAAGCCCTGATTT
ATTGCATTTGGGCAGCTTCTGTGGTGTAAATTCTCCCAGCAGTGTCCCATGTCATGCTGCCAGCATCACTGAATGCACTGAACTCAGAGTTGGGAAGAGATGCACATAATCGCTCTCCCGGCACACCT
CATGCCTCTTCCCTGCCTCCCCATTCCCCTGGCTGCACTTCCTTGCCTTCTATGGGGTTGAAATATTGAAGTCTCAACTGTCTCTGTTCACAAGAGCCACCAAAAGTTAGGGGACTTCAGTCCTAGCC
CCCAGATGGCCGCCCTGAAGCTCTCTGGGCTCCTCAGCAATAAAGCACTTTATTTTCAAA

hide sequence


Protein RefSeqs	NP_872315	(Get FASTA)	NCBI Sequence Viewer
	NP_954993	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAD09622	(Get FASTA)	NCBI Sequence Viewer
	AAH33140	(Get FASTA)	NCBI Sequence Viewer
	AAI01020	(Get FASTA)	NCBI Sequence Viewer
	AAI01021	(Get FASTA)	NCBI Sequence Viewer
	AAI01022	(Get FASTA)	NCBI Sequence Viewer
	AAI01023	(Get FASTA)	NCBI Sequence Viewer
	BAC11626	(Get FASTA)	NCBI Sequence Viewer
	BAF84289	(Get FASTA)	NCBI Sequence Viewer
	BAG51795	(Get FASTA)	NCBI Sequence Viewer
	BAG61982	(Get FASTA)	NCBI Sequence Viewer
	CAD62605	(Get FASTA)	NCBI Sequence Viewer
	CAD62608	(Get FASTA)	NCBI Sequence Viewer
	CAD66577	(Get FASTA)	NCBI Sequence Viewer
	CAD66578	(Get FASTA)	NCBI Sequence Viewer
	CAE47313	(Get FASTA)	NCBI Sequence Viewer
	CAH18707	(Get FASTA)	NCBI Sequence Viewer
	CBH19474	(Get FASTA)	NCBI Sequence Viewer
	EAW81293	(Get FASTA)	NCBI Sequence Viewer
	EAW81294	(Get FASTA)	NCBI Sequence Viewer
	EAW81295	(Get FASTA)	NCBI Sequence Viewer
	EAW81296	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000216481.6
	ENSP00000341490
	ENSP00000341490.4
	ENSP00000420452
	ENSP00000420452.1
GenBank Protein	Q6H9L7	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_954993 ⟸ NM_199296
- Peptide Label:	isoform 1 precursor
- UniProtKB:	Q8NBL0 (UniProtKB/Swiss-Prot), Q8N501 (UniProtKB/Swiss-Prot), Q86TW4 (UniProtKB/Swiss-Prot), Q86TW3 (UniProtKB/Swiss-Prot), Q86TQ7 (UniProtKB/Swiss-Prot), Q6H9L7 (UniProtKB/Swiss-Prot), Q68CN3 (UniProtKB/Swiss-Prot), Q495U5 (UniProtKB/Swiss-Prot), O95432 (UniProtKB/Swiss-Prot), A8K6D5 (UniProtKB/Swiss-Prot), B4DTH0 (UniProtKB/TrEMBL)
- Sequence:	show sequence MRALRDRAGLLLCVLLLAALLEAALGLPVKKPRLRGPRPGSLTRLAEVSASPDPRPLKEEEEAPLLPRTHLQAEPHQHGCWTVTEPAAMTPGNATPPRTPEVTPLRLELQKLPGLANTTLSTPNPDTQ ASASPDPRPLREEEEARLLPRTHLQAELHQHGCWTVTEPAALTPGNATPPRTQEVTPLLLELQKLPELVHATLSTPNPDNQVTIKVVEDPQAEVSIDLLAEPSNPPPQDTLSWLPALWSFLWGDYKGE EKDRAPGEKGEEKEEDEDYPSEDIEGEDQEDKEEDEEEQALWFNGTTDNWDQGWLAPGDWVFKDSVSYDYEPQKEWSPWSPCSGNCSTGKQQRTRPCGYGCTATETRTCDLPSCPGTEDKDTLGLPSE EWKLLARNATDMHDQDVDSCEKWLNCKSDFLIKYLSQMLRDLPSCPCAYPLEAMDSPVSLQDEHQGRSFRWRDASGPRERLDIYQPTARFCLRSMLSGESSTLAAQHCCYDEDSRLLTRGKGAGMPNL ISTDFSPKLHFKFDTTPWILCKGDWSRLHAVLPPNNGRACTDNPLEEEYLAQLQEAKEY hide sequence

RefSeq Acc Id:	NP_872315 ⟸ NM_182509
- Peptide Label:	isoform 3 precursor
- UniProtKB:	Q6H9L7 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MRALRDRAGLLLCVLLLAALLEAALGLPVKKPRLRGPRPGSLTRLAEVSASPDPRPLKEEEEAP LLPRTHLQAEPHQHGCWTVTEPAAMTPGNATPPRTPEVTPLRLELQKLPGLANTTLSTPNPDTQASASPDPRPLREEEEARLLPRTHLQAELHQHGCWTVTEPAALTPGNATPPRTQEVTPLLLELQK LPELVHATLSTPNPDNQTMSLRRSGVPGLPAVGTAALASSRGLGPVAMAALPPRPVPVTCPPVLALRTRTPWASPVRSGSSWPAMLRTCMIKMWTAVRSG hide sequence

Ensembl Acc Id:

ENSP00000216481 ⟸ ENST00000216481

Ensembl Acc Id:

ENSP00000420452 ⟸ ENST00000493585

Ensembl Acc Id:

ENSP00000419434 ⟸ ENST00000480979

Protein Domains

AMOP TSP type-1

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q6H9L7-F1-model_v2	AlphaFold	Q6H9L7	1-571	view protein structure

RGD ID:

6791449

Promoter ID:

HG_KWN:19868

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell

Transcripts:

ENST00000342219, UC001XTY.1, UC001XTZ.1, UC001XUA.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	14	77,034,521 - 77,035,021 (-)	MPROMDB

RGD ID:

7228247

Promoter ID:

EPDNEW_H19870

Type:

initiation region

Name:

ISM2_1

Description:

isthmin 2

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H19871

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	14	77,498,816 - 77,498,876	EPDNEW

RGD ID:

7228251

Promoter ID:

EPDNEW_H19871

Type:

initiation region

Name:

ISM2_2

Description:

isthmin 2

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H19870

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	14	77,498,952 - 77,499,012	EPDNEW

Database	Acc Id	Source(s)
COSMIC	ISM2	COSMIC
Ensembl Genes	ENSG00000100593	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000216481.10	UniProtKB/Swiss-Prot
	ENST00000342219	ENTREZGENE
	ENST00000342219.9	UniProtKB/Swiss-Prot
	ENST00000493585	ENTREZGENE
	ENST00000493585.5	UniProtKB/Swiss-Prot
Gene3D-CATH	2.20.100.10	UniProtKB/Swiss-Prot
GTEx	ENSG00000100593	GTEx
HGNC ID	HGNC:23176	ENTREZGENE
Human Proteome Map	ISM2	Human Proteome Map
InterPro	AMOP_dom	UniProtKB/Swiss-Prot
	Angio_Inhib/Adhesion_GPCR	UniProtKB/Swiss-Prot
	TSP1_rpt	UniProtKB/Swiss-Prot
	TSP1_rpt_sf	UniProtKB/Swiss-Prot
KEGG Report	hsa:145501	UniProtKB/Swiss-Prot
NCBI Gene	ISM2	ENTREZGENE
OMIM	612684	OMIM
PANTHER	ISTHMIN-2	UniProtKB/Swiss-Prot
	PTHR10239:SF28	UniProtKB/Swiss-Prot
Pfam	AMOP	UniProtKB/Swiss-Prot
	TSP_1	UniProtKB/Swiss-Prot
PharmGKB	PA164721097	PharmGKB
PROSITE	AMOP	UniProtKB/Swiss-Prot
	TSP1	UniProtKB/Swiss-Prot
SMART	AMOP	UniProtKB/Swiss-Prot
	TSP1	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF82895	UniProtKB/Swiss-Prot
UniProt	A8K6D5	ENTREZGENE
	B4DTH0	ENTREZGENE, UniProtKB/TrEMBL
	G3V2Q2_HUMAN	UniProtKB/TrEMBL
	H7C4M8_HUMAN	UniProtKB/TrEMBL
	H7C5B3_HUMAN	UniProtKB/TrEMBL
	ISM2_HUMAN	UniProtKB/Swiss-Prot
	O95432	ENTREZGENE
	Q495U5	ENTREZGENE
	Q68CN3	ENTREZGENE
	Q6H9L7	ENTREZGENE
	Q86TQ7	ENTREZGENE
	Q86TW3	ENTREZGENE
	Q86TW4	ENTREZGENE
	Q8N501	ENTREZGENE
	Q8NBL0	ENTREZGENE
UniProt Secondary	A8K6D5	UniProtKB/Swiss-Prot
	O95432	UniProtKB/Swiss-Prot
	Q495U5	UniProtKB/Swiss-Prot
	Q68CN3	UniProtKB/Swiss-Prot
	Q86TQ7	UniProtKB/Swiss-Prot
	Q86TW3	UniProtKB/Swiss-Prot
	Q86TW4	UniProtKB/Swiss-Prot
	Q8N501	UniProtKB/Swiss-Prot
	Q8NBL0	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2013-05-21	ISM2	isthmin 2	ISM2	isthmin 2 homolog (zebrafish)	Symbol and/or name change	5135510	APPROVED

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


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


Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
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MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable

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Imported Disease Annotations - ClinVar