ORMDL3 (ORMDL sphingolipid biosynthesis regulator 3)

Gene: ORMDL3 (ORMDL sphingolipid biosynthesis regulator 3) Homo sapiens

Analyze

Symbol:

ORMDL3

Name:

ORMDL sphingolipid biosynthesis regulator 3

RGD ID:

1352369

HGNC Page

HGNC:16038

Description:

Involved in ceramide metabolic process. Acts upstream of or within several processes, including negative regulation of B cell apoptotic process; negative regulation of ceramide biosynthetic process; and positive regulation of protein localization to nucleus. Located in endoplasmic reticulum. Part of SPOTS complex.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

ORM1-like protein 3

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	17	39,921,041 - 39,927,601 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	17	39,921,041 - 39,927,601 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	17	38,077,294 - 38,083,854 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	17	35,330,822 - 35,337,380 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	17	35,330,821 - 35,337,380	NCBI
Celera	17	34,737,556 - 34,744,114 (-)	NCBI		Celera
Cytogenetic Map	17	q21.1	NCBI
HuRef	17	33,871,298 - 33,877,886 (-)	NCBI		HuRef
CHM1_1	17	38,313,002 - 38,319,590 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	17	40,784,755 - 40,791,324 (-)	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

asthma (EXP)

hypertrophic cardiomyopathy 25 (IAGP)

ulcerative colitis (EXP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,1-dichloroethene (ISO)

1,2-dimethylhydrazine (ISO)

17alpha-ethynylestradiol (ISO)

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

2,4-diaminotoluene (ISO)

3-isobutyl-1-methyl-7H-xanthine (EXP)

acetamide (ISO)

aflatoxin B1 (EXP,ISO)

aluminium sulfate (anhydrous) (ISO)

arsane (EXP)

arsenic atom (EXP)

atrazine (EXP)

benomyl (EXP)

benzo[a]pyrene (EXP,ISO)

bis(2-ethylhexyl) phthalate (ISO)

bisphenol A (EXP,ISO)

cadmium atom (EXP)

cadmium dichloride (EXP)

carbon nanotube (ISO)

chlorpyrifos (ISO)

ciguatoxin CTX1B (ISO)

clofibrate (ISO)

dexamethasone (EXP)

dibutyl phthalate (ISO)

gentamycin (ISO)

glafenine (ISO)

indometacin (EXP)

ivermectin (EXP)

ketamine (ISO)

montelukast (ISO)

N-acetyl-L-cysteine (EXP)

N-methyl-4-phenylpyridinium (ISO)

paracetamol (EXP,ISO)

phenobarbital (ISO)

picoxystrobin (EXP)

pirinixic acid (ISO)

potassium dichromate (EXP)

resveratrol (ISO)

sodium arsenite (EXP)

sunitinib (EXP)

tamoxifen (ISO)

tetrachloromethane (ISO)

thifluzamide (EXP)

thioacetamide (ISO)

titanium dioxide (ISO)

torcetrapib (EXP)

trichostatin A (EXP)

urethane (EXP)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

cellular lipid metabolic process (IEA)

ceramide metabolic process (IBA,IMP)

intracellular sphingolipid homeostasis (IBA)

motor behavior (IEA,ISO)

myelination (IEA,ISO)

negative regulation of B cell apoptotic process (IEA,IMP)

negative regulation of ceramide biosynthetic process (IEA,IMP)

positive regulation of autophagy (IDA,IEA,IMP)

positive regulation of protein localization to nucleus (IDA)

regulation of ceramide biosynthetic process (IEA,ISO)

regulation of smooth muscle contraction (IEA,ISO)

regulation of sphingolipid biosynthetic process (IEA,ISO)

sphingolipid biosynthetic process (IBA)

sphingomyelin biosynthetic process (IEA,ISO)

Cellular Component

endoplasmic reticulum (IDA,IEA)

endoplasmic reticulum membrane (IEA)

membrane (IEA)

plasma membrane (TAS)

secretory granule membrane (TAS)

specific granule membrane (TAS)

SPOTS complex (IBA,IDA)

Molecular Function

protein binding (IPI)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:11042152	PMID:12093374	PMID:12477932	PMID:14702039	PMID:15489334	PMID:16169070	PMID:16303743	PMID:16344560	PMID:17207965	PMID:17611496	PMID:18155279	PMID:18310477
PMID:18395550	PMID:18587394	PMID:18760456	PMID:19133921	PMID:19175592	PMID:19264973	PMID:19322201	PMID:19430480	PMID:19732864	PMID:19819884	PMID:19820697	PMID:20182505
PMID:20228799	PMID:20372189	PMID:20503266	PMID:20601676	PMID:20639880	PMID:20816195	PMID:20860503	PMID:21072187	PMID:21102463	PMID:21150878	PMID:21297633	PMID:21399635
PMID:21546069	PMID:21738480	PMID:21829393	PMID:21832049	PMID:21843571	PMID:21873635	PMID:22015541	PMID:22017802	PMID:22271045	PMID:22561531	PMID:22732088	PMID:22889411
PMID:22986918	PMID:23000144	PMID:23011799	PMID:23066021	PMID:23096927	PMID:23100328	PMID:23128233	PMID:23157251	PMID:23461825	PMID:23577138	PMID:23964555	PMID:24204796
PMID:24219690	PMID:24623722	PMID:24649901	PMID:25167772	PMID:25256354	PMID:25395622	PMID:25691431	PMID:25815492	PMID:25930191	PMID:26112603	PMID:26125920	PMID:26270739
PMID:26603569	PMID:26638075	PMID:26760575	PMID:26782568	PMID:27097577	PMID:27229929	PMID:27313060	PMID:27645259	PMID:27784618	PMID:27826095	PMID:27932194	PMID:28192616
PMID:28241063	PMID:28333149	PMID:28336364	PMID:28514442	PMID:28588209	PMID:28740106	PMID:28747345	PMID:28826527	PMID:28827284	PMID:28889952	PMID:29374573	PMID:29908154
PMID:30217493	PMID:30339462	PMID:30529276	PMID:30644696	PMID:30700557	PMID:31173170	PMID:31342811	PMID:31477895	PMID:31560728	PMID:32078788	PMID:32296183	PMID:32820688
PMID:32933630	PMID:33022573	PMID:33031402	PMID:33087821	PMID:33558761	PMID:33558762	PMID:33661765	PMID:33941434	PMID:33961781	PMID:33971943	PMID:34001091	PMID:34288557
PMID:34331429	PMID:34872583	PMID:35321632	PMID:35337019	PMID:35353673	PMID:35944360	PMID:35972600	PMID:37499392	PMID:37877592

Genomics

Comparative Map Data

ORMDL3
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	17	39,921,041 - 39,927,601 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	17	39,921,041 - 39,927,601 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	17	38,077,294 - 38,083,854 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	17	35,330,822 - 35,337,380 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	17	35,330,821 - 35,337,380	NCBI
Celera	17	34,737,556 - 34,744,114 (-)	NCBI		Celera
Cytogenetic Map	17	q21.1	NCBI
HuRef	17	33,871,298 - 33,877,886 (-)	NCBI		HuRef
CHM1_1	17	38,313,002 - 38,319,590 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	17	40,784,755 - 40,791,324 (-)	NCBI		T2T-CHM13v2.0

Ormdl3
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	11	98,472,120 - 98,478,071 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	11	98,472,082 - 98,478,194 (-)	Ensembl		GRCm39 Ensembl
GRCm38	11	98,581,294 - 98,587,245 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	11	98,581,256 - 98,587,368 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	11	98,442,608 - 98,448,559 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	11	98,397,384 - 98,403,335 (-)	NCBI		MGSCv36	mm8
Celera	11	108,235,703 - 108,241,654 (-)	NCBI		Celera
Cytogenetic Map	11	D	NCBI
cM Map	11	62.07	NCBI

Ormdl3
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	10	84,086,317 - 84,092,673 (-)	NCBI		GRCr8
mRatBN7.2	10	83,590,052 - 83,596,035 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	10	83,590,071 - 83,598,620 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	10	88,535,127 - 88,542,297 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	10	88,033,204 - 88,040,374 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	10	83,425,892 - 83,433,062 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	10	86,545,910 - 86,554,478 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	10	86,547,339 - 86,554,478 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	10	86,341,986 - 86,350,554 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	10	87,403,919 - 87,411,058 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	10	82,339,436 - 82,346,575 (-)	NCBI		Celera
Cytogenetic Map	10	q31	NCBI

Ormdl3
(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_004955451	14,621,399 - 14,642,763 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955451	14,621,565 - 14,627,556 (-)	NCBI	ChiLan1.0	ChiLan1.0

ORMDL3
(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	19	25,027,480 - 25,034,049 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	17	26,920,795 - 26,928,871 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	17	17,361,624 - 17,368,194 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	17	17,581,001 - 17,587,741 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	17	17,581,612 - 17,587,741 (+)	Ensembl	panpan1.1		panPan2

ORMDL3
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	9	22,594,425 - 22,601,108 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	9	22,594,480 - 22,599,999 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	9	22,066,387 - 22,073,071 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	9	23,387,143 - 23,393,828 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	9	23,387,150 - 23,393,827 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	9	22,160,466 - 22,167,152 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	9	22,419,662 - 22,426,354 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	9	22,544,044 - 22,550,746 (+)	NCBI		UU_Cfam_GSD_1.0

Ormdl3
(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_024405602	21,991,984 - 22,005,704 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936490	15,069,387 - 15,076,253 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936490	15,069,435 - 15,076,112 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

ORMDL3
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	12	22,411,587 - 22,417,736 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	12	22,411,130 - 22,417,744 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	12	22,869,406 - 22,876,003 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

ORMDL3
(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	16	66,243,503 - 66,249,800 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	16	66,243,539 - 66,250,167 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666077	37,152,785 - 37,159,150 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Ormdl3
(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_004624795	3,209,605 - 3,217,539 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624795	3,210,382 - 3,216,130 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in ORMDL3
12 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	copy number gain	See cases [RCV000050957]	Chr17:36449220..68170214 [GRCh38] Chr17:48563237..65936105 [GRCh37] Chr17:45918236..63677950 [NCBI36] Chr17:17q21.33-24.2	pathogenic
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]\|See cases [RCV000052483]	Chr17:36449220..83086677 [GRCh38] Chr17:58617905..81044553 [GRCh37] Chr17:55972687..78637842 [NCBI36] Chr17:17q23.2-25.3	pathogenic
GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	copy number gain	See cases [RCV000052479]	Chr17:39199873..45629579 [GRCh38] Chr17:37356126..43706945 [GRCh37] Chr17:34609652..41062728 [NCBI36] Chr17:17q12-21.31	pathogenic
GRCh38/hg38 17q21.1(chr17:39876786-40048205)x1	copy number loss	See cases [RCV000142465]	Chr17:39876786..40048205 [GRCh38] Chr17:38033039..38204458 [GRCh37] Chr17:35286565..35457984 [NCBI36] Chr17:17q21.1	uncertain significance
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	copy number gain	See cases [RCV000137437]	Chr17:36449220..75053130 [GRCh38] Chr17:57595736..73049225 [GRCh37] Chr17:54950518..70560820 [NCBI36] Chr17:17q23.1-25.1	pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	copy number gain	See cases [RCV000511439]	Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	copy number gain	See cases [RCV000512441]	Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3	copy number gain	not provided [RCV000739324]	Chr17:8547..81060040 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3	copy number gain	not provided [RCV000739320]	Chr17:7214..81058310 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3	copy number gain	not provided [RCV000739325]	Chr17:12344..81057996 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	copy number gain	not provided [RCV000846852]	Chr17:21690653..38772647 [GRCh37] Chr17:17p11.2-q21.2	pathogenic
NC_000017.10:g.(?_37821613)_(38458253_?)dup	duplication	Hypertrophic cardiomyopathy 25 [RCV003113302]	Chr17:37821613..38458253 [GRCh37] Chr17:17q12-21.2	uncertain significance
NM_139280.4(ORMDL3):c.61G>A (p.Gly21Ser)	single nucleotide variant	not specified [RCV004206361]	Chr17:39924143 [GRCh38] Chr17:38080396 [GRCh37] Chr17:17q21.1	uncertain significance
NM_139280.4(ORMDL3):c.74C>T (p.Ser25Phe)	single nucleotide variant	not specified [RCV004126553]	Chr17:39924130 [GRCh38] Chr17:38080383 [GRCh37] Chr17:17q21.1	uncertain significance
NM_139280.4(ORMDL3):c.25G>A (p.Glu9Lys)	single nucleotide variant	not specified [RCV004152296]	Chr17:39924179 [GRCh38] Chr17:38080432 [GRCh37] Chr17:17q21.1	uncertain significance
NM_139280.4(ORMDL3):c.106G>A (p.Val36Met)	single nucleotide variant	not specified [RCV004108711]	Chr17:39924098 [GRCh38] Chr17:38080351 [GRCh37] Chr17:17q21.1	uncertain significance
NM_139280.4(ORMDL3):c.349A>C (p.Thr117Pro)	single nucleotide variant	not specified [RCV004164637]	Chr17:39922663 [GRCh38] Chr17:38078916 [GRCh37] Chr17:17q21.1	uncertain significance
NM_139280.4(ORMDL3):c.73T>C (p.Ser25Pro)	single nucleotide variant	not specified [RCV004154593]	Chr17:39924131 [GRCh38] Chr17:38080384 [GRCh37] Chr17:17q21.1	uncertain significance
NM_139280.4(ORMDL3):c.313A>T (p.Thr105Ser)	single nucleotide variant	not specified [RCV004289769]	Chr17:39923125 [GRCh38] Chr17:38079378 [GRCh37] Chr17:17q21.1	uncertain significance
NM_139280.4(ORMDL3):c.122C>T (p.Pro41Leu)	single nucleotide variant	not specified [RCV004282863]	Chr17:39924082 [GRCh38] Chr17:38080335 [GRCh37] Chr17:17q21.1	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	3844
Count of miRNA genes:	933
Interacting mature miRNAs:	1152
Transcripts:	ENST00000304046, ENST00000394169, ENST00000579287, ENST00000579695, ENST00000581284, ENST00000582052, ENST00000584000, ENST00000584220
Prediction methods:	Microtar, Miranda, Pita, 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.

Markers in Region

STS-N90879

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	38,077,302 - 38,077,515	UniSTS	GRCh37
Build 36	17	35,330,828 - 35,331,041	RGD	NCBI36
Celera	17	34,737,562 - 34,737,775	RGD
Cytogenetic Map	17	q12	UniSTS
HuRef	17	33,871,304 - 33,871,517	UniSTS
GeneMap99-GB4 RH Map	17	304.49	UniSTS

ORMDL3__7060

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	38,077,145 - 38,077,962	UniSTS	GRCh37
Build 36	17	35,330,671 - 35,331,488	RGD	NCBI36
Celera	17	34,737,405 - 34,738,222	RGD
HuRef	17	33,871,147 - 33,871,964	UniSTS

D1S3693

Human Assembly	Chr	Position (strand)	Source
Cytogenetic Map	16	q24.3	UniSTS
Cytogenetic Map	22	q13.1	UniSTS
Cytogenetic Map	3	p22	UniSTS
Cytogenetic Map	22	q12.1	UniSTS
Cytogenetic Map	20	q11.21	UniSTS
Cytogenetic Map	21	q22.3	UniSTS
Cytogenetic Map	17	q25.3	UniSTS
Cytogenetic Map	13	q34	UniSTS
Cytogenetic Map	1	q22-q23	UniSTS
Cytogenetic Map	1	p36.21	UniSTS
Cytogenetic Map	19	p13	UniSTS
Cytogenetic Map	8	p21.3	UniSTS
Cytogenetic Map	20	q13.33	UniSTS
Cytogenetic Map	11	q13.2	UniSTS
Cytogenetic Map	12	p13.3	UniSTS
Cytogenetic Map	15	q14	UniSTS
Cytogenetic Map	6	p25.2	UniSTS
Cytogenetic Map	X	p22.33	UniSTS
Cytogenetic Map	Y	p11.32	UniSTS
Cytogenetic Map	10	p15.3-p15.2	UniSTS
Cytogenetic Map	13	q14.13	UniSTS
Cytogenetic Map	17	p13.3	UniSTS
Cytogenetic Map	3	p22.3	UniSTS
Cytogenetic Map	2	q13	UniSTS
Cytogenetic Map	1	q32.3-q41	UniSTS
Cytogenetic Map	1	p13.3	UniSTS
Cytogenetic Map	11	q13.5	UniSTS
Cytogenetic Map	9	q34.11	UniSTS
Cytogenetic Map	1	p36.32	UniSTS
Cytogenetic Map	19	q13.42	UniSTS
Cytogenetic Map	11	q13	UniSTS
Cytogenetic Map	1	q32.1	UniSTS
Cytogenetic Map	22	q13.2	UniSTS
Cytogenetic Map	19	p13.3	UniSTS
Cytogenetic Map	17	q12	UniSTS

Expression

RNA-SEQ Expression

High: > 1000 TPM value Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

visual system

adipose tissue

appendage

entire extraembryonic component

pharyngeal arch

High

Medium

2431

2690

1717

624

1794

464

4193

1909

3553

410

1452

1609

172

1203

2626

Low

301

157

164

288

181

162

Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001320801	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001320802	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001320803	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_139280	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047437093	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047437094	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047437095	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054317832	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054317833	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC090844	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF151043	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF373101	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF373102	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF395708	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK074811	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK075212	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK093063	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AX059854	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AX775843	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY357943	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC000638	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC017087	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC018837	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC050710	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC054042	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC071833	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BU633754	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471152	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068261	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CQ782744	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CQ783311	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CS300504	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB042662	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB054498	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB127807	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HY004453	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HY038741	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000304046 ⟹ ENSP00000304858

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	39,921,043 - 39,927,601 (-)	Ensembl

RefSeq Acc Id:

ENST00000394169 ⟹ ENSP00000377724

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	39,922,277 - 39,926,841 (-)	Ensembl

RefSeq Acc Id:

ENST00000579287

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	39,921,043 - 39,921,749 (-)	Ensembl

RefSeq Acc Id:

ENST00000579695 ⟹ ENSP00000464693

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	39,921,041 - 39,927,601 (-)	Ensembl

RefSeq Acc Id:

ENST00000581284 ⟹ ENSP00000462961

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	39,922,098 - 39,924,048 (-)	Ensembl

RefSeq Acc Id:

ENST00000582052

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	39,925,796 - 39,926,846 (-)	Ensembl

RefSeq Acc Id:

ENST00000584000 ⟹ ENSP00000464298

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	39,922,625 - 39,927,229 (-)	Ensembl

RefSeq Acc Id:

ENST00000584220 ⟹ ENSP00000464455

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	39,922,550 - 39,924,203 (-)	Ensembl

RefSeq Acc Id:

NM_001320801 ⟹ NP_001307730

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	39,921,043 - 39,926,978 (-)	NCBI
CHM1_1	17	38,313,000 - 38,318,805 (-)	NCBI
T2T-CHM13v2.0	17	40,784,757 - 40,790,692 (-)	NCBI

Sequence:

show sequence

AGTCGGGGTGGCTGGGCCAAAGTTGAGAGGTTATCAGCTGTGGTCCTGCAGCTTGGGGGGTGGG
CGGAATGGACATGGCATTGTGACGTGCTGCCCCGGACTCCCCGTTGGGGTCCCCATCCAGGCCT
GGATGTTTTGTGCTCCTCTTCCAGAAGACAGGAGGTTTGCTGTTGTGAGGGCTGCTCTTTCCTG
GGGGAGGGAATGGGAAGGGCTCACCTGGTGGCTGCCCTGGTGGTGCTCAGCCTTGGCTTGAGTG
TCTGGCATACTGGCTGGGCCCGGATATTTGTATGTGGAGCCAAGAGGGTGGGGCGGGAAGGAGG
GGGAAAGAGCTACCAGCAAAAAAGTGGTTAACACAACAGAGTTGCTGCAGGCTCTGGTTTGAGG
CAGGTTATGAAACCACATCAGGGCCCAGCACTAAGCAGCCACCTGCCAGCTATGGCAGCAGAAG
TTTTCGGCTCAACTCCTGTAGACCTAGTCGACCTCTGCCAGCCTCTTCTCTCTGTTTCTCCCCA
TCTAGGGTAGGGGCCAGTTGGTTGTTTTACTAATGGAAGTGATATGTATCCATAGTCACACGAA
AGTCTCAAGAGTGTTTCCTCATTGCCAGTCTTTTTGTTAGTTTATTGATCTCTTCTTTTTCAGG
GGTCTCTGGTGGTTTCCTGCTCTCAGGGCACCTAGTGTTTAGGCTTCAGGAAGAAGCTTCTGAG
GGTGTTGGCTAGGACCTAGGTCTAGGCTTTTCCTAGGCTCATCAAGTTTTGTTGGCTGCCCTGT
GAAAGCCAGAAAGGCGTATGGGGTCCTGTGATCTGGGATTCCCCAAGGCTTTTGGCACTCCTGG
ACAAATACTAGGAAGGGTTAGTGGACTTTCTATACCAGCACCCCTGTAGGTGCGGGTTACAGAG
AGGTGATGGGGTGGCAGTTTCAGGTCAGACTTGGGAAGCTCTTTCCCTCTCCTTAGTCAGAGTT
AAGTCCTTCAGAGCCCTCACTTGTCAGCCACATGCCGCCCTCCCCTCTCAGGTGGAGGCTTTTG
CGTAGCAGCTGTCCCAGGGGCTGCTAGAGTAACTGAAGCCCCAAGGCCCTGGGAAGATAAACAA
TCTGAGCCAGCTCTGGCTTTCTAGATACTTGAATTTCTGTTAGGCTCAATTATCCAGCCTAGTG
GGCTGCGCTGATGGGTCCCAGGAGCATCTCTTCAATCAGAATGCGCCCCAGGCTGGCGCACGGG
TGTTTGCTTGTTGGGATGGCGTGTTGTGGGTCACATTTTCTCTGAGGTCTCTAAGCTTGGAGCT
GTCTGAGAAGAGGAAACTTGCTCCTGTTATCCTGGAAGTAAATAACTGGCCCCTGAGGACTCAG
TCTCCTGTGCAGGGCCCTCAGGGATCTGGGGACAGCCAAACTCTGGATAAGGGGCAGATCATTC
CACCCCTTCCTTCTCTACTTCCCTCTGCTCACTGTGGGTTGCGGCCACCTCCTGGTTCCTCCTG
CTGCAGGACTCCTACCGTTGGTGCTGGGCAGGGGAAGGCATGGTGCTAATATACACCTGGAAAC
AGGTGCTGAGAGGGGAGACTGAGTCCTCCTAAGTTGGGGTTTGGGGAGATCCAGAATTGAAAAA
ATCAGAGGAGAACAGCAGAGAGGGGCAGCAGGATGAATGTGGGCACAGCGCACAGCGAGGTGAA
CCCCAACACGCGGGTGATGAACAGCCGTGGCATCTGGCTCTCCTACGTGCTGGCCATCGGTCTC
CTCCACATCGTGCTGCTGAGCATCCCGTTTGTGAGTGTCCCTGTCGTCTGGACCCTCACCAACC
TCATTCACAACATGGGCATGTATATCTTCCTGCACACGGTGAAGGGGACACCCTTTGAGACCCC
GGACCAGGGCAAGGCGAGGCTGCTAACCCACTGGGAGCAGATGGATTATGGGGTCCAGTTCACG
GCCTCTCGGAAGTTCTTGACCATCACACCCATCGTGCTGTACTTCCTCACCAGCTTCTACACTA
AGTACGACCAGATCCATTTTGTGCTCAACACCGTGTCCCTGATGAGCGTGCTTATCCCCAAGCT
GCCCCAGCTCCACGGAGTCCGGATTTTTGGAATCAATAAGTACTGAGAGTGCAGCCCCTTCCCC
TGCCCAGGGTGGCAGGGGAGGGGTAGGGTAAAAGGCATGTGCTGCAACACTGAAGACAGAAAGA
AGAAGCCTCTGGACACTGCCAGAGATGGGGGTTGAGCCTCTGGCCTAATTTCCCCCCTCGCTTC
CCCCAGTAGCCAACTTGGAGTAGCTTGTAGTGGGGTTGGGGTAGGCCCCCTGGGCTCTGACCTT
TTCTGAATTTTTTGATCTTTTCCTTTTGCTTTTTGAATAGAGACTCCATGGAGTTGGTCATGGA
ATGGGCTGGGCTCCTGGGCTGAACATGGACCACGCAGTTGCGACAGGAGGCCAGGGGAAAAACC
CCTGCTCACTTGTTTGCCCTCAGGCAGCCAAAGCACTTTAACCCCTGCATAGGGAGCAGAGGGC
GGTACGGCTTCTGGATTGTTTCACTGTGATTCCTAGGTTTTTTCGATGCCACGCAGTGTGTGCT
TTTGTGTATGGAAGCAAGTGTGGGATGGGTCTTTGCCTTTCTGGGTAGGGAGCTGTCTAATCCA
AGTCCCAGGCTTTTGGCAGCTTCTCTGCAACCCACCGTGGGTCCTGGTTGGGAGTGGGGAGGGT
CAGGTTGGGGAAAGATGGGGTAGAGTGTAGATGGCTTGGTTCCAGAGGTGAGGGGGCCAGGGCT
GCTGCCATCCTGGCCTGGTGGAGGTTGGGGAGCTGTAGGAGAGCTAGTGAGTCGAGACTTAGAA
GAATGGGGCCACATAGCAGCAGAGGACTGGTGTAAGGGAGGGAGGGGTAGGGACAGAAGCTAGA
CCCAATCTCCTTTGGGATGTGGGCAGGGAGGGAAGCAGGCTTGGAGGGTTAATTTACCCACAGA
ATGTGATAGTAATAGGGGAGGGAGGCTGCTGTGGGTTTAACTCCTGGGTTGGCTGTTGGGTAGA
CAGGTGGGGAAAAGGCCCGTGAGTCATTGTAAGCACAGGTCCAACTTGGCCCTGACTCCTGCGG
GGGTATGGGGAAGCTGTGACAGAAACGATGGGTGCTGTGGTCCTCTGCAGGCCCTCACCCCTTA
ACTTCCTCATACAGACTGGCACTGGGCAGGGCCTCTCATGTGGCAGCCACATGTGGCGTTGTGA
GGCCACCCCATGTGGGGTCTGTGGTGAGAGTCCTGTAGGATCCCTGCTCAAGCAGCACAGAGGA
AGGGGCAAGACGTGGCCTGTAGGCACTGTCTCAGCCTGCAGAGAAGAAAGTGAGGCCGGGAGCC
TGAGCCTGGGCTGGAGCCTTCTCCCCTCCCCAGTTGGACTAGGGGCAGTGTTAATTTTGAAAAG
GTGTGGGTCCCTGTGTCCTCTTCCAGGGGTCCAAGGGAACGGGAGAGGTCACTGGGCCTGTTTT
CTCCCTCCTGACCCTGCATCTCCCACCCCGTGTATCATAGGGAACTTTCACCTTAAAATCTTTC
TAAGCAAAGTGTGAATAGGATTTTTACTCCCTTTGTACAGTATTCTGAGAAACGCAAATAAAAG
GGCAACATGTTTCTGTT

hide sequence

RefSeq Acc Id:

NM_001320802 ⟹ NP_001307731

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	39,921,043 - 39,927,601 (-)	NCBI
CHM1_1	17	38,313,000 - 38,319,763 (-)	NCBI
T2T-CHM13v2.0	17	40,784,757 - 40,791,315 (-)	NCBI

Sequence:

show sequence

GATTCGGCCGGAGCTGCCAGCGGGGAGGCTGCAGCCGCGGGTTGTTACAGCTGCTGGAGCAGCA
GCGGCCCCCGCTCCCGGGAACCGTTCCCGGGCCGTTGATCTTCGGCCCCACACGCAGAGAGGGG
CAGCAGGATGAATGTGGGCACAGCGCACAGCGAGGTGAACCCCAACACGCGGGTGATGAACAGC
CGTGGCATCTGGCTCTCCTACGTGCTGGCCATCGGTCTCCTCCACATCGTGCTGCTGAGCATCC
CGTTTGTGAGTGTCCCTGTCGTCTGGACCCTCACCAACCTCATTCACAACATGGGCATGTATAT
CTTCCTGCACACGGTGAAGGGGACACCCTTTGAGACCCCGGACCAGGGCAAGGCGAGGCTGCTA
ACCCACTGGGAGCAGATGGATTATGGGGTCCAGTTCACGGCCTCTCGGAAGTTCTTGACCATCA
CACCCATCGTGCTGTACTTCCTCACCAGCTTCTACACTAAGTACGACCAGATCCATTTTGTGCT
CAACACCGTGTCCCTGATGAGCGTGCTTATCCCCAAGCTGCCCCAGCTCCACGGAGTCCGGATT
TTTGGAATCAATAAGTACTGAGAGTGCAGCCCCTTCCCCTGCCCAGGGTGGCAGGGGAGGGGTA
GGGTAAAAGGCATGTGCTGCAACACTGAAGACAGAAAGAAGAAGCCTCTGGACACTGCCAGAGA
TGGGGGTTGAGCCTCTGGCCTAATTTCCCCCCTCGCTTCCCCCAGTAGCCAACTTGGAGTAGCT
TGTAGTGGGGTTGGGGTAGGCCCCCTGGGCTCTGACCTTTTCTGAATTTTTTGATCTTTTCCTT
TTGCTTTTTGAATAGAGACTCCATGGAGTTGGTCATGGAATGGGCTGGGCTCCTGGGCTGAACA
TGGACCACGCAGTTGCGACAGGAGGCCAGGGGAAAAACCCCTGCTCACTTGTTTGCCCTCAGGC
AGCCAAAGCACTTTAACCCCTGCATAGGGAGCAGAGGGCGGTACGGCTTCTGGATTGTTTCACT
GTGATTCCTAGGTTTTTTCGATGCCACGCAGTGTGTGCTTTTGTGTATGGAAGCAAGTGTGGGA
TGGGTCTTTGCCTTTCTGGGTAGGGAGCTGTCTAATCCAAGTCCCAGGCTTTTGGCAGCTTCTC
TGCAACCCACCGTGGGTCCTGGTTGGGAGTGGGGAGGGTCAGGTTGGGGAAAGATGGGGTAGAG
TGTAGATGGCTTGGTTCCAGAGGTGAGGGGGCCAGGGCTGCTGCCATCCTGGCCTGGTGGAGGT
TGGGGAGCTGTAGGAGAGCTAGTGAGTCGAGACTTAGAAGAATGGGGCCACATAGCAGCAGAGG
ACTGGTGTAAGGGAGGGAGGGGTAGGGACAGAAGCTAGACCCAATCTCCTTTGGGATGTGGGCA
GGGAGGGAAGCAGGCTTGGAGGGTTAATTTACCCACAGAATGTGATAGTAATAGGGGAGGGAGG
CTGCTGTGGGTTTAACTCCTGGGTTGGCTGTTGGGTAGACAGGTGGGGAAAAGGCCCGTGAGTC
ATTGTAAGCACAGGTCCAACTTGGCCCTGACTCCTGCGGGGGTATGGGGAAGCTGTGACAGAAA
CGATGGGTGCTGTGGTCCTCTGCAGGCCCTCACCCCTTAACTTCCTCATACAGACTGGCACTGG
GCAGGGCCTCTCATGTGGCAGCCACATGTGGCGTTGTGAGGCCACCCCATGTGGGGTCTGTGGT
GAGAGTCCTGTAGGATCCCTGCTCAAGCAGCACAGAGGAAGGGGCAAGACGTGGCCTGTAGGCA
CTGTCTCAGCCTGCAGAGAAGAAAGTGAGGCCGGGAGCCTGAGCCTGGGCTGGAGCCTTCTCCC
CTCCCCAGTTGGACTAGGGGCAGTGTTAATTTTGAAAAGGTGTGGGTCCCTGTGTCCTCTTCCA
GGGGTCCAAGGGAACGGGAGAGGTCACTGGGCCTGTTTTCTCCCTCCTGACCCTGCATCTCCCA
CCCCGTGTATCATAGGGAACTTTCACCTTAAAATCTTTCTAAGCAAAGTGTGAATAGGATTTTT
ACTCCCTTTGTACAGTATTCTGAGAAACGCAAATAAAAGGGCAACATGTTTCTGTT

hide sequence

RefSeq Acc Id:

NM_001320803 ⟹ NP_001307732

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	39,921,041 - 39,926,846 (-)	NCBI
CHM1_1	17	38,313,000 - 38,318,805 (-)	NCBI
T2T-CHM13v2.0	17	40,784,755 - 40,790,560 (-)	NCBI

Sequence:

show sequence

GTTTTGTGCTCCTCTTCCAGAAGACAGGAGAACAGCAGAGAGGGGCAGCAGGATGAATGTGGGC
ACAGCGCACAGCGAGGTGAACCCCAACACGCGGGTGATGAACAGCCGTGGCATCTGGCTCTCCT
ACGTGCTGGCCATCGGTCTCCTCCACATCGTGCTGCTGAGCATCCCGTTTGTGAGTGTCCCTGT
CGTCTGGACCCTCACCAACCTCATTCACAACATGGGCATGTATATCTTCCTGCACACGGTGAAG
GGGACACCCTTTGAGACCCCGGACCAGGGCAAGGCGAGGCTGCTAACCCACTGGGAGCAGATGG
ATTATGGGGTCCAGTTCACGGCCTCTCGGAAGTTCTTGACCATCACACCCATCGTGCTGTACTT
CCTCACCAGCTTCTACACTAAGTACGACCAGATCCATTTTGTGCTCAACACCGTGTCCCTGATG
AGCGTGCTTATCCCCAAGCTGCCCCAGCTCCACGGAGTCCGGATTTTTGGAATCAATAAGTACT
GAGAGTGCAGCCCCTTCCCCTGCCCAGGGTGGCAGGGGAGGGGTAGGGTAAAAGGCATGTGCTG
CAACACTGAAGACAGAAAGAAGAAGCCTCTGGACACTGCCAGAGATGGGGGTTGAGCCTCTGGC
CTAATTTCCCCCCTCGCTTCCCCCAGTAGCCAACTTGGAGTAGCTTGTAGTGGGGTTGGGGTAG
GCCCCCTGGGCTCTGACCTTTTCTGAATTTTTTGATCTTTTCCTTTTGCTTTTTGAATAGAGAC
TCCATGGAGTTGGTCATGGAATGGGCTGGGCTCCTGGGCTGAACATGGACCACGCAGTTGCGAC
AGGAGGCCAGGGGAAAAACCCCTGCTCACTTGTTTGCCCTCAGGCAGCCAAAGCACTTTAACCC
CTGCATAGGGAGCAGAGGGCGGTACGGCTTCTGGATTGTTTCACTGTGATTCCTAGGTTTTTTC
GATGCCACGCAGTGTGTGCTTTTGTGTATGGAAGCAAGTGTGGGATGGGTCTTTGCCTTTCTGG
GTAGGGAGCTGTCTAATCCAAGTCCCAGGCTTTTGGCAGCTTCTCTGCAACCCACCGTGGGTCC
TGGTTGGGAGTGGGGAGGGTCAGGTTGGGGAAAGATGGGGTAGAGTGTAGATGGCTTGGTTCCA
GAGGTGAGGGGGCCAGGGCTGCTGCCATCCTGGCCTGGTGGAGGTTGGGGAGCTGTAGGAGAGC
TAGTGAGTCGAGACTTAGAAGAATGGGGCCACATAGCAGCAGAGGACTGGTGTAAGGGAGGGAG
GGGTAGGGACAGAAGCTAGACCCAATCTCCTTTGGGATGTGGGCAGGGAGGGAAGCAGGCTTGG
AGGGTTAATTTACCCACAGAATGTGATAGTAATAGGGGAGGGAGGCTGCTGTGGGTTTAACTCC
TGGGTTGGCTGTTGGGTAGACAGGTGGGGAAAAGGCCCGTGAGTCATTGTAAGCACAGGTCCAA
CTTGGCCCTGACTCCTGCGGGGGTATGGGGAAGCTGTGACAGAAACGATGGGTGCTGTGGTCCT
CTGCAGGCCCTCACCCCTTAACTTCCTCATACAGACTGGCACTGGGCAGGGCCTCTCATGTGGC
AGCCACATGTGGCGTTGTGAGGCCACCCCATGTGGGGTCTGTGGTGAGAGTCCTGTAGGATCCC
TGCTCAAGCAGCACAGAGGAAGGGGCAAGACGTGGCCTGTAGGCACTGTCTCAGCCTGCAGAGA
AGAAAGTGAGGCCGGGAGCCTGAGCCTGGGCTGGAGCCTTCTCCCCTCCCCAGTTGGACTAGGG
GCAGTGTTAATTTTGAAAAGGTGTGGGTCCCTGTGTCCTCTTCCAGGGGTCCAAGGGAACGGGA
GAGGTCACTGGGCCTGTTTTCTCCCTCCTGACCCTGCATCTCCCACCCCGTGTATCATAGGGAA
CTTTCACCTTAAAATCTTTCTAAGCAAAGTGTGAATAGGATTTTTACTCCCTTTGTACAGTATT
CTGAGAAACGCAAATAAAAGGGCAACATGTTTCTGTTTCAAAAAAAAAAAAAAAAAA

hide sequence

RefSeq Acc Id:

NM_139280 ⟹ NP_644809

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	39,921,043 - 39,927,601 (-)	NCBI
GRCh37	17	38,077,294 - 38,083,884 (-)	NCBI
Build 36	17	35,330,822 - 35,337,380 (-)	NCBI Archive
HuRef	17	33,871,298 - 33,877,886 (-)	ENTREZGENE
CHM1_1	17	38,313,000 - 38,319,763 (-)	NCBI
T2T-CHM13v2.0	17	40,784,757 - 40,791,315 (-)	NCBI

Sequence:

show sequence

GATTCGGCCGGAGCTGCCAGCGGGGAGGCTGCAGCCGCGGGTTGTTACAGCTGCTGGAGCAGCA
GCGGCCCCCGCTCCCGGGAACCGTTCCCGGGCCGTTGATCTTCGGCCCCACACGAACAGCAGAG
AGGGGCAGCAGGATGAATGTGGGCACAGCGCACAGCGAGGTGAACCCCAACACGCGGGTGATGA
ACAGCCGTGGCATCTGGCTCTCCTACGTGCTGGCCATCGGTCTCCTCCACATCGTGCTGCTGAG
CATCCCGTTTGTGAGTGTCCCTGTCGTCTGGACCCTCACCAACCTCATTCACAACATGGGCATG
TATATCTTCCTGCACACGGTGAAGGGGACACCCTTTGAGACCCCGGACCAGGGCAAGGCGAGGC
TGCTAACCCACTGGGAGCAGATGGATTATGGGGTCCAGTTCACGGCCTCTCGGAAGTTCTTGAC
CATCACACCCATCGTGCTGTACTTCCTCACCAGCTTCTACACTAAGTACGACCAGATCCATTTT
GTGCTCAACACCGTGTCCCTGATGAGCGTGCTTATCCCCAAGCTGCCCCAGCTCCACGGAGTCC
GGATTTTTGGAATCAATAAGTACTGAGAGTGCAGCCCCTTCCCCTGCCCAGGGTGGCAGGGGAG
GGGTAGGGTAAAAGGCATGTGCTGCAACACTGAAGACAGAAAGAAGAAGCCTCTGGACACTGCC
AGAGATGGGGGTTGAGCCTCTGGCCTAATTTCCCCCCTCGCTTCCCCCAGTAGCCAACTTGGAG
TAGCTTGTAGTGGGGTTGGGGTAGGCCCCCTGGGCTCTGACCTTTTCTGAATTTTTTGATCTTT
TCCTTTTGCTTTTTGAATAGAGACTCCATGGAGTTGGTCATGGAATGGGCTGGGCTCCTGGGCT
GAACATGGACCACGCAGTTGCGACAGGAGGCCAGGGGAAAAACCCCTGCTCACTTGTTTGCCCT
CAGGCAGCCAAAGCACTTTAACCCCTGCATAGGGAGCAGAGGGCGGTACGGCTTCTGGATTGTT
TCACTGTGATTCCTAGGTTTTTTCGATGCCACGCAGTGTGTGCTTTTGTGTATGGAAGCAAGTG
TGGGATGGGTCTTTGCCTTTCTGGGTAGGGAGCTGTCTAATCCAAGTCCCAGGCTTTTGGCAGC
TTCTCTGCAACCCACCGTGGGTCCTGGTTGGGAGTGGGGAGGGTCAGGTTGGGGAAAGATGGGG
TAGAGTGTAGATGGCTTGGTTCCAGAGGTGAGGGGGCCAGGGCTGCTGCCATCCTGGCCTGGTG
GAGGTTGGGGAGCTGTAGGAGAGCTAGTGAGTCGAGACTTAGAAGAATGGGGCCACATAGCAGC
AGAGGACTGGTGTAAGGGAGGGAGGGGTAGGGACAGAAGCTAGACCCAATCTCCTTTGGGATGT
GGGCAGGGAGGGAAGCAGGCTTGGAGGGTTAATTTACCCACAGAATGTGATAGTAATAGGGGAG
GGAGGCTGCTGTGGGTTTAACTCCTGGGTTGGCTGTTGGGTAGACAGGTGGGGAAAAGGCCCGT
GAGTCATTGTAAGCACAGGTCCAACTTGGCCCTGACTCCTGCGGGGGTATGGGGAAGCTGTGAC
AGAAACGATGGGTGCTGTGGTCCTCTGCAGGCCCTCACCCCTTAACTTCCTCATACAGACTGGC
ACTGGGCAGGGCCTCTCATGTGGCAGCCACATGTGGCGTTGTGAGGCCACCCCATGTGGGGTCT
GTGGTGAGAGTCCTGTAGGATCCCTGCTCAAGCAGCACAGAGGAAGGGGCAAGACGTGGCCTGT
AGGCACTGTCTCAGCCTGCAGAGAAGAAAGTGAGGCCGGGAGCCTGAGCCTGGGCTGGAGCCTT
CTCCCCTCCCCAGTTGGACTAGGGGCAGTGTTAATTTTGAAAAGGTGTGGGTCCCTGTGTCCTC
TTCCAGGGGTCCAAGGGAACGGGAGAGGTCACTGGGCCTGTTTTCTCCCTCCTGACCCTGCATC
TCCCACCCCGTGTATCATAGGGAACTTTCACCTTAAAATCTTTCTAAGCAAAGTGTGAATAGGA
TTTTTACTCCCTTTGTACAGTATTCTGAGAAACGCAAATAAAAGGGCAACATGTTTCTGTT

hide sequence

RefSeq Acc Id:

XM_047437093 ⟹ XP_047293049

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	39,921,041 - 39,927,601 (-)	NCBI

RefSeq Acc Id:

XM_047437094 ⟹ XP_047293050

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	39,921,041 - 39,927,601 (-)	NCBI

RefSeq Acc Id:

XM_047437095 ⟹ XP_047293051

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	39,921,041 - 39,926,846 (-)	NCBI

RefSeq Acc Id:

XM_054317832 ⟹ XP_054173807

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	17	40,784,755 - 40,791,324 (-)	NCBI

RefSeq Acc Id:

XM_054317833 ⟹ XP_054173808

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	17	40,784,755 - 40,790,560 (-)	NCBI

Protein Sequences


Protein RefSeqs	NP_001307730	(Get FASTA)	NCBI Sequence Viewer
	NP_001307731	(Get FASTA)	NCBI Sequence Viewer
	NP_001307732	(Get FASTA)	NCBI Sequence Viewer
	NP_644809	(Get FASTA)	NCBI Sequence Viewer
	XP_047293049	(Get FASTA)	NCBI Sequence Viewer
	XP_047293050	(Get FASTA)	NCBI Sequence Viewer
	XP_047293051	(Get FASTA)	NCBI Sequence Viewer
	XP_054173807	(Get FASTA)	NCBI Sequence Viewer
	XP_054173808	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAF36129	(Get FASTA)	NCBI Sequence Viewer
	AAH17087	(Get FASTA)	NCBI Sequence Viewer
	AAH71833	(Get FASTA)	NCBI Sequence Viewer
	AAM43507	(Get FASTA)	NCBI Sequence Viewer
	AAN76521	(Get FASTA)	NCBI Sequence Viewer
	AAN76522	(Get FASTA)	NCBI Sequence Viewer
	AAQ57273	(Get FASTA)	NCBI Sequence Viewer
	BAC11223	(Get FASTA)	NCBI Sequence Viewer
	BAC11476	(Get FASTA)	NCBI Sequence Viewer
	BAG52645	(Get FASTA)	NCBI Sequence Viewer
	CAC24860	(Get FASTA)	NCBI Sequence Viewer
	CAE11621	(Get FASTA)	NCBI Sequence Viewer
	CAF85976	(Get FASTA)	NCBI Sequence Viewer
	CAF86524	(Get FASTA)	NCBI Sequence Viewer
	CAK32168	(Get FASTA)	NCBI Sequence Viewer
	EAW60616	(Get FASTA)	NCBI Sequence Viewer
	EAW60617	(Get FASTA)	NCBI Sequence Viewer
	EAW60618	(Get FASTA)	NCBI Sequence Viewer
	EAW60619	(Get FASTA)	NCBI Sequence Viewer
	EAW60620	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000304858
	ENSP00000304858.2
	ENSP00000377724
	ENSP00000377724.1
	ENSP00000462961.1
	ENSP00000464298
	ENSP00000464298.1
	ENSP00000464455
	ENSP00000464455.1
	ENSP00000464693
	ENSP00000464693.1
GenBank Protein	Q8N138	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_644809 ⟸ NM_139280
- UniProtKB:	B3KS83 (UniProtKB/Swiss-Prot), Q6UY83 (UniProtKB/Swiss-Prot), Q8N138 (UniProtKB/Swiss-Prot), J3QRM9 (UniProtKB/TrEMBL)
- Sequence:	show sequence MNVGTAHSEVNPNTRVMNSRGIWLSYVLAIGLLHIVLLSIPFVSVPVVWTLTNLIHNMGMYIFL HTVKGTPFETPDQGKARLLTHWEQMDYGVQFTASRKFLTITPIVLYFLTSFYTKYDQIHFVLNT VSLMSVLIPKLPQLHGVRIFGINKY hide sequence

RefSeq Acc Id:	NP_001307731 ⟸ NM_001320802
- UniProtKB:	B3KS83 (UniProtKB/Swiss-Prot), Q6UY83 (UniProtKB/Swiss-Prot), Q8N138 (UniProtKB/Swiss-Prot), J3QRM9 (UniProtKB/TrEMBL)
- Sequence:	show sequence MNVGTAHSEVNPNTRVMNSRGIWLSYVLAIGLLHIVLLSIPFVSVPVVWTLTNLIHNMGMYIFL HTVKGTPFETPDQGKARLLTHWEQMDYGVQFTASRKFLTITPIVLYFLTSFYTKYDQIHFVLNT VSLMSVLIPKLPQLHGVRIFGINKY hide sequence

RefSeq Acc Id:	NP_001307732 ⟸ NM_001320803
- UniProtKB:	B3KS83 (UniProtKB/Swiss-Prot), Q6UY83 (UniProtKB/Swiss-Prot), Q8N138 (UniProtKB/Swiss-Prot), J3QRM9 (UniProtKB/TrEMBL)
- Sequence:	show sequence MNVGTAHSEVNPNTRVMNSRGIWLSYVLAIGLLHIVLLSIPFVSVPVVWTLTNLIHNMGMYIFL HTVKGTPFETPDQGKARLLTHWEQMDYGVQFTASRKFLTITPIVLYFLTSFYTKYDQIHFVLNT VSLMSVLIPKLPQLHGVRIFGINKY hide sequence

RefSeq Acc Id:	NP_001307730 ⟸ NM_001320801
- UniProtKB:	B3KS83 (UniProtKB/Swiss-Prot), Q6UY83 (UniProtKB/Swiss-Prot), Q8N138 (UniProtKB/Swiss-Prot), J3QRM9 (UniProtKB/TrEMBL)
- Sequence:	show sequence MNVGTAHSEVNPNTRVMNSRGIWLSYVLAIGLLHIVLLSIPFVSVPVVWTLTNLIHNMGMYIFL HTVKGTPFETPDQGKARLLTHWEQMDYGVQFTASRKFLTITPIVLYFLTSFYTKYDQIHFVLNT VSLMSVLIPKLPQLHGVRIFGINKY hide sequence

RefSeq Acc Id:

ENSP00000462961 ⟸ ENST00000581284

RefSeq Acc Id:

ENSP00000464455 ⟸ ENST00000584220

RefSeq Acc Id:

ENSP00000464298 ⟸ ENST00000584000

RefSeq Acc Id:

ENSP00000464693 ⟸ ENST00000579695

RefSeq Acc Id:

ENSP00000377724 ⟸ ENST00000394169

RefSeq Acc Id:

ENSP00000304858 ⟸ ENST00000304046

RefSeq Acc Id:	XP_047293049 ⟸ XM_047437093
- Peptide Label:	isoform X1
- UniProtKB:	Q8N138 (UniProtKB/Swiss-Prot), B3KS83 (UniProtKB/Swiss-Prot), Q6UY83 (UniProtKB/Swiss-Prot)

RefSeq Acc Id:	XP_047293050 ⟸ XM_047437094
- Peptide Label:	isoform X1
- UniProtKB:	Q8N138 (UniProtKB/Swiss-Prot), B3KS83 (UniProtKB/Swiss-Prot), Q6UY83 (UniProtKB/Swiss-Prot)

RefSeq Acc Id:	XP_047293051 ⟸ XM_047437095
- Peptide Label:	isoform X1
- UniProtKB:	Q8N138 (UniProtKB/Swiss-Prot), B3KS83 (UniProtKB/Swiss-Prot), Q6UY83 (UniProtKB/Swiss-Prot)

RefSeq Acc Id:	XP_054173807 ⟸ XM_054317832
- Peptide Label:	isoform X1
- UniProtKB:	Q8N138 (UniProtKB/Swiss-Prot), B3KS83 (UniProtKB/Swiss-Prot), Q6UY83 (UniProtKB/Swiss-Prot)

RefSeq Acc Id:	XP_054173808 ⟸ XM_054317833
- Peptide Label:	isoform X1
- UniProtKB:	Q8N138 (UniProtKB/Swiss-Prot), B3KS83 (UniProtKB/Swiss-Prot), Q6UY83 (UniProtKB/Swiss-Prot)

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q8N138-F1-model_v2	AlphaFold	Q8N138	1-153	view protein structure

Promoters

RGD ID:

6794397

Promoter ID:

HG_KWN:26016

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_2Hour, Jurkat, K562, Lymphoblastoid

Transcripts:

UC002HTI.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	17	35,336,411 - 35,337,562 (-)	MPROMDB

RGD ID:

6794395

Promoter ID:

HG_KWN:26017

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell_12Hour, HeLa_S3, K562, Lymphoblastoid, NB4

Transcripts:

OTTHUMT00000257002, UC002HTK.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	17	35,337,321 - 35,338,337 (-)	MPROMDB

RGD ID:

7234881

Promoter ID:

EPDNEW_H23186

Type:

initiation region

Name:

ORMDL3_2

Description:

ORMDL sphingolipid biosynthesis regulator 3

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H23187

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	39,924,227 - 39,924,287	EPDNEW

RGD ID:

7234887

Promoter ID:

EPDNEW_H23187

Type:

initiation region

Name:

ORMDL3_1

Description:

ORMDL sphingolipid biosynthesis regulator 3

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H23186

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	39,927,571 - 39,927,631	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:16038	AgrOrtholog
COSMIC	ORMDL3	COSMIC
Ensembl Genes	ENSG00000172057	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000304046	ENTREZGENE
	ENST00000304046.7	UniProtKB/Swiss-Prot
	ENST00000394169	ENTREZGENE
	ENST00000394169.5	UniProtKB/Swiss-Prot
	ENST00000579695	ENTREZGENE
	ENST00000579695.5	UniProtKB/Swiss-Prot
	ENST00000581284.5	UniProtKB/TrEMBL
	ENST00000584000	ENTREZGENE
	ENST00000584000.1	UniProtKB/TrEMBL
	ENST00000584220	ENTREZGENE
	ENST00000584220.5	UniProtKB/Swiss-Prot
GTEx	ENSG00000172057	GTEx
HGNC ID	HGNC:16038	ENTREZGENE
Human Proteome Map	ORMDL3	Human Proteome Map
InterPro	ORMDL	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:94103	UniProtKB/Swiss-Prot
NCBI Gene	94103	ENTREZGENE
OMIM	610075	OMIM
PANTHER	PTHR12665	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PTHR12665:SF11	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	ORMDL	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA32821	PharmGKB
PIRSF	ORMDL	UniProtKB/Swiss-Prot
UniProt	B3KS83	ENTREZGENE
	J3KTF9_HUMAN	UniProtKB/TrEMBL
	J3QRM9	ENTREZGENE, UniProtKB/TrEMBL
	ORML3_HUMAN	UniProtKB/Swiss-Prot
	Q6UY83	ENTREZGENE
	Q8N138	ENTREZGENE
	Q9P0R7_HUMAN	UniProtKB/TrEMBL
UniProt Secondary	B3KS83	UniProtKB/Swiss-Prot
	Q6UY83	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2014-06-24	ORMDL3	ORMDL sphingolipid biosynthesis regulator 3		ORM1-like 3 (S. cerevisiae)	Symbol and/or name change	5135510	APPROVED

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

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

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

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

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