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Gene: SNRPD2 (small nuclear ribonucleoprotein D2 polypeptide) Homo sapiens

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Symbol:

SNRPD2

Name:

small nuclear ribonucleoprotein D2 polypeptide

RGD ID:

1312873

HGNC Page

HGNC:11159

Description:

Enables RNA binding activity. Involved in spliceosomal snRNP assembly. Located in cytosol and nucleus. Part of several cellular components, including methylosome; nucleus; and pICln-Sm protein complex. Implicated in systemic lupus erythematosus.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

Sm-D2; small nuclear ribonucleoprotein D2 polypeptide 16.5kDa; small nuclear ribonucleoprotein Sm D2; SMD2; snRNP core protein D2; SNRPD1

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Related Pseudogenes:

SNRPD2P1 SNRPD2P2

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	19	45,687,454 - 45,692,316 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	19	45,687,460 - 45,692,569 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	19	46,190,712 - 46,195,574 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	19	50,882,558 - 50,887,282 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	19	50,882,557 - 50,887,282	NCBI
Celera	19	42,996,835 - 43,001,568 (-)	NCBI		Celera
Cytogenetic Map	19	q13.32	NCBI
HuRef	19	42,619,677 - 42,624,410 (-)	NCBI		HuRef
CHM1_1	19	46,194,181 - 46,198,916 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	19	48,514,991 - 48,519,856 (-)	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

systemic lupus erythematosus (IDA)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(-)-alpha-phellandrene (EXP)

(1->4)-beta-D-glucan (ISO)

1,2-dimethylhydrazine (ISO)

2,2',4,4'-Tetrabromodiphenyl ether (ISO)

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

4,4'-sulfonyldiphenol (EXP)

acrolein (EXP)

actinomycin D (EXP)

alpha-phellandrene (EXP)

alpha-pinene (EXP)

Aroclor 1254 (ISO)

arsenite(3-) (EXP)

beauvericin (EXP)

benzatropine (EXP)

benzo[a]pyrene (ISO)

bisphenol A (EXP,ISO)

bisphenol F (ISO)

cadmium dichloride (ISO)

chloropicrin (EXP)

chromium(6+) (ISO)

clobetasol (ISO)

clozapine (ISO)

copper atom (ISO)

copper(0) (ISO)

copper(II) sulfate (EXP)

dibutyl phthalate (ISO)

dihydroartemisinin (EXP)

enniatin (EXP)

enzyme inhibitor (EXP)

epoxiconazole (ISO)

flutamide (ISO)

folic acid (ISO)

FR900359 (EXP)

glafenine (ISO)

haloperidol (ISO)

hinokiflavone (EXP)

hydralazine (EXP)

ivermectin (EXP)

methyl methanesulfonate (EXP)

methylparaben (EXP)

N-methyl-4-phenylpyridinium (ISO)

Nutlin-3 (EXP)

oxaliplatin (ISO)

ozone (EXP,ISO)

perfluorooctane-1-sulfonic acid (ISO)

perfluorooctanoic acid (EXP)

resveratrol (ISO)

sodium arsenite (EXP)

thiram (EXP)

titanium dioxide (ISO)

toluene (ISO)

topotecan (ISO)

trimellitic anhydride (ISO)

triphenyl phosphate (EXP)

tungsten (ISO)

valproic acid (EXP)

vinclozolin (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

7-methylguanosine cap hypermethylation (NAS)

mRNA processing (IEA)

mRNA splicing, via spliceosome (IC,IDA,NAS)

RNA splicing (IEA,TAS)

spliceosomal complex assembly (TAS)

spliceosomal snRNP assembly (IBA,IDA)

U2-type prespliceosome assembly (NAS)

Cellular Component

catalytic step 2 spliceosome (IBA,IDA)

cytoplasm (IEA)

cytosol (IDA,IEA,TAS)

extracellular exosome (HDA)

methylosome (IDA)

nucleoplasm (TAS)

nucleus (IDA,IEA,NAS)

pICln-Sm protein complex (IBA,IDA)

precatalytic spliceosome (IBA)

ribonucleoprotein complex (IEA)

small nuclear ribonucleoprotein complex (IEA,TAS)

SMN-Sm protein complex (IDA)

spliceosomal complex (IEA,IPI,NAS,TAS)

U1 snRNP (IBA,IDA,IPI,ISO,NAS)

U12-type spliceosomal complex (IDA)

U2 snRNP (IBA,NAS)

U2-type catalytic step 2 spliceosome (IDA)

U2-type precatalytic spliceosome (IDA)

U2-type spliceosomal complex (IDA)

U4 snRNP (IDA,NAS)

U4/U6 x U5 tri-snRNP complex (IBA,IDA,IPI)

U5 snRNP (IBA,NAS)

Molecular Function

protein binding (IPI)

RNA binding (HDA,IEA)

U1 snRNP binding (ISO)

Molecular Pathway Annotations Click to see Annotation Detail View

spliceosome pathway (IEA,TAS)

References

References - curated

#	Reference Title	Reference Citation
1.	Proteomic analysis of in vivo-assembled pre-mRNA splicing complexes expands the catalog of participating factors.	Chen YI, etal., Nucleic Acids Res. 2007;35(12):3928-44. Epub 2007 May 30.
2.	Anti-sm autoantibodies in systemic lupus target highly basic surface structures of complexed spliceosomal autoantigens.	McClain MT, etal., J Immunol. 2002 Feb 15;168(4):2054-62.
3.	KEGG Annotation Import Pipeline	Pipeline to import KEGG annotations from KEGG into RGD
4.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
5.	The spliceosome: design principles of a dynamic RNP machine.	Wahl MC, etal., Cell. 2009 Feb 20;136(4):701-18. doi: 10.1016/j.cell.2009.02.009.

Additional References at PubMed

PMID:1701240	PMID:3260384	PMID:7527560	PMID:8889548	PMID:9323129	PMID:9417867	PMID:10025403	PMID:10500148	PMID:10531003	PMID:10556282	PMID:10601333	PMID:10725331
PMID:10942426	PMID:11101529	PMID:11135666	PMID:11226169	PMID:11713266	PMID:11714716	PMID:11748230	PMID:11756452	PMID:11780068	PMID:11991638	PMID:12065586	PMID:12226669
PMID:12234937	PMID:12477932	PMID:12577067	PMID:12975319	PMID:14667819	PMID:15057824	PMID:15130578	PMID:15146077	PMID:15231747	PMID:15489334	PMID:15564372	PMID:15782160
PMID:15848170	PMID:15939020	PMID:16087681	PMID:16159877	PMID:16169070	PMID:16344560	PMID:16712791	PMID:17332742	PMID:17620599	PMID:17643375	PMID:18457437	PMID:18984161
PMID:19531499	PMID:19738201	PMID:19928837	PMID:20360068	PMID:20458337	PMID:21081503	PMID:21113136	PMID:21145461	PMID:21319273	PMID:21516107	PMID:21642987	PMID:21873635
PMID:21988832	PMID:22365833	PMID:22446626	PMID:22589738	PMID:22623428	PMID:22658674	PMID:22863883	PMID:22939629	PMID:23084401	PMID:23151878	PMID:23184937	PMID:23246001
PMID:23349634	PMID:23376485	PMID:23398456	PMID:23402259	PMID:23455922	PMID:24104479	PMID:24255178	PMID:24457600	PMID:24550385	PMID:24711643	PMID:24981860	PMID:25192599
PMID:25416956	PMID:25437307	PMID:25555158	PMID:25659891	PMID:25798074	PMID:25948554	PMID:25963833	PMID:26170170	PMID:26186194	PMID:26209609	PMID:26344197	PMID:26496610
PMID:26527279	PMID:26725010	PMID:26912367	PMID:26979993	PMID:27025967	PMID:27049334	PMID:27173435	PMID:27591049	PMID:27684187	PMID:27880917	PMID:28076346	PMID:28225217
PMID:28302793	PMID:28514442	PMID:28515276	PMID:28561026	PMID:28581483	PMID:28700943	PMID:28781166	PMID:28878014	PMID:28902428	PMID:28977470	PMID:28977666	PMID:29053956
PMID:29229926	PMID:29298432	PMID:29331416	PMID:29395067	PMID:29467282	PMID:29478914	PMID:29490077	PMID:29491746	PMID:29507755	PMID:29509190	PMID:29704455	PMID:29773831
PMID:29802200	PMID:29845934	PMID:29884807	PMID:29934401	PMID:30021884	PMID:30209976	PMID:30404004	PMID:30455355	PMID:30463901	PMID:30554943	PMID:30575818	PMID:30804502
PMID:30833792	PMID:30884312	PMID:30948266	PMID:30975767	PMID:31048545	PMID:31091453	PMID:31107149	PMID:31180492	PMID:31253590	PMID:31324722	PMID:31365120	PMID:31405213
PMID:31409639	PMID:31586073	PMID:31594818	PMID:31623628	PMID:31744343	PMID:31799625	PMID:31980649	PMID:32129710	PMID:32296183	PMID:32494006	PMID:32513696	PMID:32640226
PMID:32665550	PMID:32687490	PMID:32807901	PMID:32814053	PMID:33022573	PMID:33301849	PMID:33306668	PMID:33644029	PMID:33677607	PMID:33729478	PMID:33766124	PMID:33961781
PMID:34079125	PMID:34091597	PMID:34189442	PMID:34349018	PMID:34373451	PMID:34732716	PMID:35013218	PMID:35013556	PMID:35140242	PMID:35235311	PMID:35253629	PMID:35256949
PMID:35271311	PMID:35439318	PMID:35446349	PMID:35563538	PMID:35583604	PMID:35831314	PMID:35850772	PMID:35906200	PMID:35915203	PMID:35944360	PMID:36114006	PMID:36180527
PMID:36180891	PMID:36215168	PMID:36244648	PMID:36373674	PMID:36424410	PMID:36526897	PMID:36543142	PMID:36574265	PMID:36652389	PMID:36797247	PMID:37071682	PMID:37164154
PMID:37314180	PMID:37314216	PMID:37317656	PMID:37689310	PMID:37827155	PMID:38113892	PMID:38172120	PMID:38334954	PMID:38697112	PMID:39018261	PMID:39147351	PMID:39238192

Genomics

Comparative Map Data

SNRPD2
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	19	45,687,454 - 45,692,316 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	19	45,687,460 - 45,692,569 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	19	46,190,712 - 46,195,574 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	19	50,882,558 - 50,887,282 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	19	50,882,557 - 50,887,282	NCBI
Celera	19	42,996,835 - 43,001,568 (-)	NCBI		Celera
Cytogenetic Map	19	q13.32	NCBI
HuRef	19	42,619,677 - 42,624,410 (-)	NCBI		HuRef
CHM1_1	19	46,194,181 - 46,198,916 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	19	48,514,991 - 48,519,856 (-)	NCBI		T2T-CHM13v2.0

Snrpd2
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	7	18,883,370 - 18,886,659 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	7	18,883,647 - 18,887,467 (+)	Ensembl		GRCm39 Ensembl
GRCm38	7	19,149,445 - 19,152,734 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	7	19,149,722 - 19,153,542 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	7	19,735,187 - 19,738,075 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	7	18,308,360 - 18,311,248 (+)	NCBI		MGSCv36	mm8
Celera	7	16,561,189 - 16,564,077 (+)	NCBI		Celera
Cytogenetic Map	7	A3	NCBI
cM Map	7	9.46	NCBI

Snrpd2
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	1	87,926,030 - 87,929,259 (+)	NCBI		GRCr8
mRatBN7.2	1	78,798,377 - 78,801,227 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	20	27,253,424 - 27,253,780 (-)	Ensembl		mRatBN7.2 Ensembl
mRatBN7.2 Ensembl	1	78,798,377 - 78,803,351 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	1	84,187,409 - 84,190,259 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	1	92,745,052 - 92,747,904 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	1	85,942,511 - 85,945,361 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	1	80,057,140 - 80,059,990 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	1	80,056,755 - 80,059,996 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	1	81,324,033 - 81,326,883 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	1	78,509,142 - 78,511,992 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	1	73,264,040 - 73,266,890 (+)	NCBI		Celera
Cytogenetic Map	1	q21	NCBI

Snrpd2
(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_004955574	157,769 - 164,947 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955574	157,769 - 164,947 (-)	NCBI	ChiLan1.0	ChiLan1.0

SNRPD2
(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	20	51,849,077 - 51,853,700 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	19	53,720,533 - 53,725,113 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	19	42,692,963 - 42,697,512 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	19	51,230,822 - 51,235,661 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	19	51,230,822 - 51,235,661 (-)	Ensembl	panpan1.1		panPan2

SNRPD2
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	1	109,891,253 - 109,896,712 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	1	109,891,223 - 109,896,711 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	1	109,376,402 - 109,381,860 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	1	110,424,516 - 110,429,978 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	13	4,259,831 - 4,260,778 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	1	110,100,067 - 110,105,533 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	1	109,734,707 - 109,740,174 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	1	110,603,576 - 110,609,034 (+)	NCBI		UU_Cfam_GSD_1.0

Snrpd2
(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_024409349	17,717,972 - 17,721,426 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936706	2,065,419 - 2,067,487 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936706	2,065,315 - 2,068,709 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

SNRPD2
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	6	52,035,134 - 52,042,474 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	6	52,035,900 - 52,042,474 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1

SNRPD2
(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	6	39,127,974 - 39,134,771 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	6	39,127,877 - 39,134,626 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666073	18,755,632 - 18,760,350 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Snrpd2
(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_004624832	7,488,674 - 7,495,306 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624832	7,488,259 - 7,495,305 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in SNRPD2
4 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 19q13.32(chr19:45595873-46600026)x1	copy number loss	See cases [RCV000050710]	Chr19:45595873..46600026 [GRCh38] Chr19:46099131..47103283 [GRCh37] Chr19:50790971..51795123 [NCBI36] Chr19:19q13.32	pathogenic
GRCh38/hg38 19q13.32(chr19:45481858-45710518)x1	copy number loss	See cases [RCV000052095]	Chr19:45481858..45710518 [GRCh38] Chr19:45985116..46213776 [GRCh37] Chr19:50676956..50905616 [NCBI36] Chr19:19q13.32	uncertain significance
GRCh38/hg38 19q13.32(chr19:45287256-45734078)x3	copy number gain	See cases [RCV000054152]	Chr19:45287256..45734078 [GRCh38] Chr19:45790514..46237336 [GRCh37] Chr19:50482354..50929176 [NCBI36] Chr19:19q13.32	uncertain significance
GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3	copy number gain	See cases [RCV000136578]	Chr19:44971420..48257402 [GRCh38] Chr19:45474677..48760659 [GRCh37] Chr19:50166517..53452471 [NCBI36] Chr19:19q13.32-13.33	pathogenic
GRCh38/hg38 19q13.32(chr19:45387389-46831000)x1	copy number loss	See cases [RCV000137832]	Chr19:45387389..46831000 [GRCh38] Chr19:45890647..47334257 [GRCh37] Chr19:50582487..52026097 [NCBI36] Chr19:19q13.32	likely pathogenic
GRCh37/hg19 19q13.2-13.32(chr19:43013365-47241534)x1	copy number loss	See cases [RCV000240182]	Chr19:43013365..47241534 [GRCh37] Chr19:19q13.2-13.32	pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	copy number gain	See cases [RCV000511289]	Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43	pathogenic\|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	copy number gain	See cases [RCV000512296]	Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
GRCh37/hg19 19q13.32(chr19:45945375-46215558)x3	copy number gain	not provided [RCV000684077]	Chr19:45945375..46215558 [GRCh37] Chr19:19q13.32	uncertain significance
GRCh37/hg19 19q13.32(chr19:46192402-46603824)x3	copy number gain	not provided [RCV000684080]	Chr19:46192402..46603824 [GRCh37] Chr19:19q13.32	uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3	copy number gain	not provided [RCV000752444]	Chr19:260912..59097160 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3	copy number gain	not provided [RCV000752439]	Chr19:68029..59110290 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	copy number gain	not provided [RCV000845733]	Chr19:28271106..49213832 [GRCh37] Chr19:19q11-13.33	pathogenic
GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	copy number gain	not provided [RCV001007050]	Chr19:44738088..53621561 [GRCh37] Chr19:19q13.31-13.42	pathogenic
GRCh37/hg19 19q13.32-13.33(chr19:45531056-48174177)x3	copy number gain	not provided [RCV001007051]	Chr19:45531056..48174177 [GRCh37] Chr19:19q13.32-13.33	uncertain significance
NM_001384647.1(SNRPD2):c.349G>A (p.Gly117Ser)	single nucleotide variant	not specified [RCV004093614]	Chr19:45687561 [GRCh38] Chr19:46190819 [GRCh37] Chr19:19q13.32	uncertain significance
NM_001384647.1(SNRPD2):c.346G>A (p.Ala116Thr)	single nucleotide variant	not specified [RCV004280376]	Chr19:45687564 [GRCh38] Chr19:46190822 [GRCh37] Chr19:19q13.32	uncertain significance
NM_001384647.1(SNRPD2):c.140G>A (p.Arg47His)	single nucleotide variant	not specified [RCV004464421]	Chr19:45688429 [GRCh38] Chr19:46191687 [GRCh37] Chr19:19q13.32	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	1542
Count of miRNA genes:	407
Interacting mature miRNAs:	448
Transcripts:	ENST00000342669, ENST00000391932, ENST00000585392, ENST00000587367, ENST00000587579, ENST00000588301, ENST00000588599, ENST00000590212
Prediction methods:	Microtar, Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

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

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

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
1559110	SCL22_H	Serum cholesterol level QTL 22 (human)	3.59	0.000241	Lipid level	LDL cholesterol	19	31907594	57907594	Human
407331525	GWAS980501_H	hip circumference QTL GWAS980501 (human)		4e-09	hip circumference	hip circumference (CMO:0000014)	19	45689145	45689146	Human
406994087	GWAS643063_H	testosterone measurement QTL GWAS643063 (human)		1e-09	taste liking measurement	serum testosterone level (CMO:0000568)	19	45690093	45690094	Human
407260046	GWAS909022_H	taste liking measurement QTL GWAS909022 (human)		3e-08	taste liking measurement		19	45690093	45690094	Human
407255676	GWAS904652_H	taste liking measurement QTL GWAS904652 (human)		1e-13	taste liking measurement		19	45690093	45690094	Human
1331657	COPD9_H	Chronic obstructive pulmonary disease QTL 9 (human)	1.94		Chronic airflow obstruction	post-bronchodilator FEV1	19	31021760	57021760	Human
406946092	GWAS595068_H	blood urea nitrogen measurement QTL GWAS595068 (human)		8e-50	blood urea nitrogen measurement	blood urea nitrogen level (CMO:0000049)	19	45690093	45690094	Human

Markers in Region

RH69717

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	46,190,757 - 46,190,848	UniSTS	GRCh37
Build 36	19	50,882,597 - 50,882,688	RGD	NCBI36
Celera	19	42,996,880 - 42,996,971	RGD
Cytogenetic Map	10	q23.31	UniSTS
Cytogenetic Map	19	q13.2	UniSTS
HuRef	19	42,619,722 - 42,619,813	UniSTS
HuRef	10	85,372,391 - 85,372,482	UniSTS

RH79659

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	46,190,744 - 46,190,906	UniSTS	GRCh37
GRCh37	10	91,738,732 - 91,738,894	UniSTS	GRCh37
Build 36	10	91,728,712 - 91,728,874	RGD	NCBI36
Celera	10	85,485,135 - 85,485,297	RGD
Celera	19	42,996,867 - 42,997,029	UniSTS
Cytogenetic Map	19	q13.2	UniSTS
Cytogenetic Map	10	q23.31	UniSTS
HuRef	19	42,619,709 - 42,619,871	UniSTS
HuRef	10	85,372,333 - 85,372,495	UniSTS
GeneMap99-GB4 RH Map	19	254.05	UniSTS

Expression

RNA-SEQ Expression

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

Download All Expressed Objects for this Gene

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

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001369751	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001369752	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001384647	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_004597	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_177542	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC007191	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ707552	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK291912	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AX888147	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC000486	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC001930	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BG528418	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BU531743	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BU532756	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CB136390	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CD175580	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CF130080	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471126	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068259	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA325073	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DW433845	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U15008	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000342669 ⟹ ENSP00000342374

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	45,687,460 - 45,691,953 (-)	Ensembl

Ensembl Acc Id:

ENST00000391932 ⟹ ENSP00000375798

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	45,687,463 - 45,691,941 (-)	Ensembl

Ensembl Acc Id:

ENST00000585392 ⟹ ENSP00000465101

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	45,687,460 - 45,691,917 (-)	Ensembl

Ensembl Acc Id:

ENST00000587367 ⟹ ENSP00000465952

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	45,687,462 - 45,691,940 (-)	Ensembl

Ensembl Acc Id:

ENST00000587579

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	45,692,154 - 45,692,569 (-)	Ensembl

Ensembl Acc Id:

ENST00000588301 ⟹ ENSP00000465216

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	45,687,463 - 45,692,316 (-)	Ensembl

Ensembl Acc Id:

ENST00000588599 ⟹ ENSP00000466152

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	45,687,463 - 45,691,771 (-)	Ensembl

Ensembl Acc Id:

ENST00000590212 ⟹ ENSP00000468247

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	45,687,511 - 45,691,917 (-)	Ensembl

RefSeq Acc Id:

NM_001369751 ⟹ NP_001356680

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	45,687,460 - 45,691,953 (-)	NCBI
T2T-CHM13v2.0	19	48,514,997 - 48,519,493 (-)	NCBI

Sequence:

show sequence

CTCTCTCTCCTCAGGCAGCAGCAACGCGGAGGAAACGGGAGTGAACGGAGAGCGTAGTGACCAT
CATTAGAGACCAGGTTTCACCATGTTGGCCAAGCTGGTCTCAAACTCCTGACCTCAAATGATCC
ACCCGCCTCGACCTTCCAAAGTGCTGGGATTACAGGAGCCTCCTCAACAAGCCCAAGAGTGAGA
TGACCCCAGAGGAGCTGCAGAAGCGAGAGGAGGAGGAATTTAACACCGGTCCACTCTCTGTGCT
CACACAGTCAGTCAAGAACAATACCCAAGTGCTCATCAACTGCCGCAACAATAAGAAACTCCTG
GGCCGCGTGAAGGCCTTCGATAGGCACTGCAACATGGTGCTGGAGAACGTGAAGGAGATGTGGA
CTGAGGTACCCAAGAGTGGCAAGGGCAAGAAGAAGTCCAAGCCAGTCAACAAAGACCGCTACAT
CTCCAAGATGTTCCTGCGCGGGGACTCAGTCATCGTGGTCCTGCGGAACCCGCTCATCGCCGGC
AAGTAGGGGCCGCCTGTCTGTTGACAGAACTCACTCCTCTGTCCTATGAAGACCGCTGCCATTG
GTGTTGAGAATAATAAAGCTCTGTGTTTTTTTCTA

hide sequence

RefSeq Acc Id:

NM_001369752 ⟹ NP_001356681

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	45,687,460 - 45,691,953 (-)	NCBI
T2T-CHM13v2.0	19	48,514,997 - 48,519,493 (-)	NCBI

Sequence:

show sequence

CTCTCTCTCCTCAGGCAGCAGCAACGCGGAGGAAACGGGAGTGAACGGAGAGCGTAGTGACCAT
CATGAGCCTCCTCAACAAGCCCAAGAGTGAGATGACCCCAGAGGAGCTGCAGAAGCGAGAGGAG
GAGGAATTTAACACCGGTCCACTCTCTGTGCTCACACAGTCAGTCAAGAACAATACCCAAGTGC
TCATCAACTGCCGCAACAATAAGAAACTCCTGGGCCGCGTGAAGGCCTTCGATAGTGCCTCCCC
TCCCTGTTCCCCACCAGGCACTGCAACATGGTGCTGGAGAACGTGAAGGAGATGTGGACTGAGG
TACCCAAGAGTGGCAAGGGCAAGAAGAAGTCCAAGCCAGTCAACAAAGACCGCTACATCTCCAA
GATGTTCCTGCGCGGGGACTCAGTCATCGTGGTCCTGCGGAACCCGCTCATCGCCGGCAAGTAG
GGGCCGCCTGTCTGTTGACAGAACTCACTCCTCTGTCCTATGAAGACCGCTGCCATTGGTGTTG
AGAATAATAAAGCTCTGTGTTTTTTTCTA

hide sequence

RefSeq Acc Id:

NM_001384647 ⟹ NP_001371576

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	45,687,460 - 45,691,953 (-)	NCBI
T2T-CHM13v2.0	19	48,514,997 - 48,519,493 (-)	NCBI

Sequence:

show sequence

CTCTCTCTCCTCAGGCAGCAGCAACGCGGAGGAAACGGGAGTGAACGGAGAGCGTAGTGACCAT
CATGAGCCTCCTCAACAAGCCCAAGAGTGAGATGACCCCAGAGGAGCTGCAGAAGCGAGAGGAG
GAGGAATTTAACACCGGTCCACTCTCTGTGCTCACACAGTCAGTCAAGAACAATACCCAAGTGC
TCATCAACTGCCGCAACAATAAGAAACTCCTGGGCCGCGTGAAGGCCTTCGATAGGCACTGCAA
CATGGTGCTGGAGAACGTGAAGGAGATGTGGACTGAGGTACCCAAGAGTGGCAAGGGCAAGAAG
AAGTCCAAGCCAGTCAACAAAGACCGCTACATCTCCAAGATGTTCCTGCGCGGGGACTCAGTCA
TCGTGGTCCTGCGGAACCCGCTCATCGCCGGCAAGTAGGGGCCGCCTGTCTGTTGACAGAACTC
ACTCCTCTGTCCTATGAAGACCGCTGCCATTGGTGTTGAGAATAATAAAGCTCTGTGTTTTTTT
CTA

hide sequence

RefSeq Acc Id:

NM_004597 ⟹ NP_004588

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	45,687,454 - 45,692,316 (-)	NCBI
GRCh37	19	46,190,712 - 46,195,569 (-)	NCBI
Build 36	19	50,882,558 - 50,887,282 (-)	NCBI Archive
HuRef	19	42,619,677 - 42,624,410 (-)	ENTREZGENE
CHM1_1	19	46,194,181 - 46,199,047 (-)	NCBI
T2T-CHM13v2.0	19	48,514,991 - 48,519,856 (-)	NCBI

Sequence:

show sequence

CGCGTCCCAGAGGGAAGAGGGGCGGTGCCTGTCTCCGAAGCGAGGAGCGGATTGGCTTCACGGA
GGCCGCGCCCCCGAAGTCACGGCCGGCGGGCATTTGGAAATAGCTTGTCATTTCCCTCCTTCAA
CCTGTACCATTCTTCAAGAAACGGCGCCAACGGAAGTGGGTCGCAGGAAGAGGAAGTCCCGCCT
CTCTCTCCTCAGGCAGCAGCAACGCGGAGGAAACGGGAGTGAACGGAGAGCGTAGTGACCATCA
TGAGCCTCCTCAACAAGCCCAAGAGTGAGATGACCCCAGAGGAGCTGCAGAAGCGAGAGGAGGA
GGAATTTAACACCGGTCCACTCTCTGTGCTCACACAGTCAGTCAAGAACAATACCCAAGTGCTC
ATCAACTGCCGCAACAATAAGAAACTCCTGGGCCGCGTGAAGGCCTTCGATAGGCACTGCAACA
TGGTGCTGGAGAACGTGAAGGAGATGTGGACTGAGGTACCCAAGAGTGGCAAGGGCAAGAAGAA
GTCCAAGCCAGTCAACAAAGACCGCTACATCTCCAAGATGTTCCTGCGCGGGGACTCAGTCATC
GTGGTCCTGCGGAACCCGCTCATCGCCGGCAAGTAGGGGCCGCCTGTCTGTTGACAGAACTCAC
TCCTCTGTCCTATGAAGACCGCTGCCATTGGTGTTGAGAATAATAAAGCTCTGTGTTTTTTTCT
AGTGGTAAAAAAAAAAAAAAA

hide sequence

RefSeq Acc Id:

NM_177542 ⟹ NP_808210

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	45,687,454 - 45,691,992 (-)	NCBI
GRCh37	19	46,190,712 - 46,195,569 (-)	NCBI
Build 36	19	50,882,558 - 50,887,282 (-)	NCBI Archive
HuRef	19	42,619,677 - 42,624,410 (-)	ENTREZGENE
CHM1_1	19	46,194,181 - 46,198,723 (-)	NCBI
T2T-CHM13v2.0	19	48,514,991 - 48,519,532 (-)	NCBI

Sequence:

show sequence

GCGCCAACGGAAGTGGGTCGCAGGAAGAGGAAGTCCCGCCTCTCTCTCCTCAGGCAGCAGCAAC
GCGGAGGAAACGGGAGTGAACGGAGAGCGTAGTGACCATCATGTTTTAGCACAACCCCCTCAGA
CCACTCTGTGGAGAACAGACTGTCAGGGAACGTGGGTGGAGGCAGAGAGACCAGAAAGATTCCA
GGACAGAGATGACAGAGGCTTAGGCCATGGAGCCTCCTCAACAAGCCCAAGAGTGAGATGACCC
CAGAGGAGCTGCAGAAGCGAGAGGAGGAGGAATTTAACACCGGTCCACTCTCTGTGCTCACACA
GTCAGTCAAGAACAATACCCAAGTGCTCATCAACTGCCGCAACAATAAGAAACTCCTGGGCCGC
GTGAAGGCCTTCGATAGGCACTGCAACATGGTGCTGGAGAACGTGAAGGAGATGTGGACTGAGG
TACCCAAGAGTGGCAAGGGCAAGAAGAAGTCCAAGCCAGTCAACAAAGACCGCTACATCTCCAA
GATGTTCCTGCGCGGGGACTCAGTCATCGTGGTCCTGCGGAACCCGCTCATCGCCGGCAAGTAG
GGGCCGCCTGTCTGTTGACAGAACTCACTCCTCTGTCCTATGAAGACCGCTGCCATTGGTGTTG
AGAATAATAAAGCTCTGTGTTTTTTTCTAGTGGTAAAAAAAAAAAAAAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_001356680	(Get FASTA)	NCBI Sequence Viewer
	NP_001356681	(Get FASTA)	NCBI Sequence Viewer
	NP_001371576	(Get FASTA)	NCBI Sequence Viewer
	NP_004588	(Get FASTA)	NCBI Sequence Viewer
	NP_808210	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAC13776	(Get FASTA)	NCBI Sequence Viewer
	AAD22673	(Get FASTA)	NCBI Sequence Viewer
	AAH00486	(Get FASTA)	NCBI Sequence Viewer
	AAH01930	(Get FASTA)	NCBI Sequence Viewer
	BAF84601	(Get FASTA)	NCBI Sequence Viewer
	CAE94072	(Get FASTA)	NCBI Sequence Viewer
	EAW57373	(Get FASTA)	NCBI Sequence Viewer
	EAW57374	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000342374
	ENSP00000342374.2
	ENSP00000375798
	ENSP00000375798.2
	ENSP00000465101.1
	ENSP00000465216
	ENSP00000465216.1
	ENSP00000465952
	ENSP00000465952.1
	ENSP00000466152.1
	ENSP00000468247
	ENSP00000468247.1
GenBank Protein	P62316	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_004588 ⟸ NM_004597
- Peptide Label:	isoform 1
- UniProtKB:	J3KPM5 (UniProtKB/Swiss-Prot), A8K797 (UniProtKB/Swiss-Prot), P43330 (UniProtKB/Swiss-Prot), P62316 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MSLLNKPKSEMTPEELQKREEEEFNTGPLSVLTQSVKNNTQVLINCRNNKKLLGRVKAFDRHCN MVLENVKEMWTEVPKSGKGKKKSKPVNKDRYISKMFLRGDSVIVVLRNPLIAGK hide sequence

RefSeq Acc Id:	NP_808210 ⟸ NM_177542
- Peptide Label:	isoform 2
- UniProtKB:	P62316 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MTPEELQKREEEEFNTGPLSVLTQSVKNNTQVLINCRNNKKLLGRVKAFDRHCNMVLENVKEMW TEVPKSGKGKKKSKPVNKDRYISKMFLRGDSVIVVLRNPLIAGK hide sequence

RefSeq Acc Id:	NP_001356681 ⟸ NM_001369752
- Peptide Label:	isoform 3
- UniProtKB:	K7ERG4 (UniProtKB/TrEMBL)

RefSeq Acc Id:	NP_001356680 ⟸ NM_001369751
- Peptide Label:	isoform 2

Ensembl Acc Id:

ENSP00000465101 ⟸ ENST00000585392

Ensembl Acc Id:

ENSP00000465952 ⟸ ENST00000587367

Ensembl Acc Id:

ENSP00000465216 ⟸ ENST00000588301

Ensembl Acc Id:

ENSP00000466152 ⟸ ENST00000588599

Ensembl Acc Id:

ENSP00000375798 ⟸ ENST00000391932

Ensembl Acc Id:

ENSP00000468247 ⟸ ENST00000590212

Ensembl Acc Id:

ENSP00000342374 ⟸ ENST00000342669

RefSeq Acc Id:	NP_001371576 ⟸ NM_001384647
- Peptide Label:	isoform 1
- UniProtKB:	P62316 (UniProtKB/Swiss-Prot), J3KPM5 (UniProtKB/Swiss-Prot), A8K797 (UniProtKB/Swiss-Prot), P43330 (UniProtKB/Swiss-Prot)

Protein Domains

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-P62316-F1-model_v2	AlphaFold	P62316	1-118	view protein structure

Promoters

RGD ID:

7240445

Promoter ID:

EPDNEW_H25968

Type:

initiation region

Name:

SNRPD2_1

Description:

small nuclear ribonucleoprotein D2 polypeptide

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H25969 EPDNEW_H25970

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	45,691,949 - 45,692,009	EPDNEW

RGD ID:

7240447

Promoter ID:

EPDNEW_H25969

Type:

initiation region

Name:

SNRPD2_3

Description:

small nuclear ribonucleoprotein D2 polypeptide

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H25968 EPDNEW_H25970

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	45,692,880 - 45,692,940	EPDNEW

RGD ID:

6795965

Promoter ID:

HG_KWN:30297

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

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

Transcripts:

ENST00000391932, NM_001163377, NM_004597, NM_017659, NM_177542, UC002PCX.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	19	50,886,961 - 50,888,492 (+)	MPROMDB

RGD ID:

6853128

Promoter ID:

EP74385

Type:

multiple initiation site

Name:

HS_SNRPD2

Description:

Small nuclear ribonucleoprotein D2 polypeptide 16.5kDa.

SO ACC ID:

SO:0000170

Source:

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

Experiment Methods:

Mammalian gene collection (MGC) full-length cDNA cloning

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	19	50,887,032 - 50,887,092	EPD

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:11159	AgrOrtholog
COSMIC	SNRPD2	COSMIC
Ensembl Genes	ENSG00000125743	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000342669	ENTREZGENE
	ENST00000342669.8	UniProtKB/Swiss-Prot
	ENST00000391932	ENTREZGENE
	ENST00000391932.7	UniProtKB/Swiss-Prot
	ENST00000585392.2	UniProtKB/TrEMBL
	ENST00000587367	ENTREZGENE
	ENST00000587367.5	UniProtKB/Swiss-Prot
	ENST00000588301	ENTREZGENE
	ENST00000588301.5	UniProtKB/Swiss-Prot
	ENST00000588599.5	UniProtKB/Swiss-Prot
	ENST00000590212	ENTREZGENE
	ENST00000590212.1	UniProtKB/TrEMBL
Gene3D-CATH	2.30.30.100	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000125743	GTEx
HGNC ID	HGNC:11159	ENTREZGENE
Human Proteome Map	SNRPD2	Human Proteome Map
InterPro	IPR047575	UniProtKB/Swiss-Prot
	LSM_dom_euk/arc	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	LSM_dom_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Sm_D2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:6633	UniProtKB/Swiss-Prot
NCBI Gene	6633	ENTREZGENE
OMIM	601061	OMIM
PANTHER	PTHR12777	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SMALL NUCLEAR RIBONUCLEOPROTEIN SM D2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	LSM	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA36000	PharmGKB
PROSITE	PS52002	UniProtKB/Swiss-Prot
SMART	SM00651	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF50182	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A8K797	ENTREZGENE
	J3KPM5	ENTREZGENE
	K7EJB5_HUMAN	UniProtKB/TrEMBL
	K7ERG4	ENTREZGENE, UniProtKB/TrEMBL
	P43330	ENTREZGENE
	P62316	ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary	A8K797	UniProtKB/Swiss-Prot
	J3KPM5	UniProtKB/Swiss-Prot
	P43330	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2015-11-17	SNRPD2	small nuclear ribonucleoprotein D2 polypeptide	SNRPD2	small nuclear ribonucleoprotein D2 polypeptide 16.5kDa	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)

RGD Manual Annotations

Imported Annotations - KEGG (archival)

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RGD Manual Annotations

Imported Annotations - KEGG (archival)