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Gene: Spred2 (sprouty related EVH1 domain containing 2) Ictidomys tridecemlineatus

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Symbol:

Spred2

Name:

sprouty related EVH1 domain containing 2

RGD ID:

12586529

Description:

ENCODES a protein that exhibits protein serine/threonine kinase inhibitor activity (ortholog); stem cell factor receptor binding (ortholog); INVOLVED IN negative regulation of epithelial to mesenchymal transition (ortholog); negative regulation of ERK1 and ERK2 cascade (ortholog); negative regulation of lens fiber cell differentiation (ortholog); ASSOCIATED WITH achondroplasia (ortholog); Alzheimer's disease (ortholog); Noonan syndrome (ortholog); FOUND IN cytoplasmic vesicle (inferred); membrane (inferred); plasma membrane (inferred)

Type:

protein-coding

RefSeq Status:

MODEL

Previously known as:

sprouty-related, EVH1 domain-containing protein 2

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Latest Assembly:

SpeTri2.0 - Squirrel SpeTri2.0 Assembly

Position:

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024406292	18,400,544 - 18,517,746 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936491	10,053,545 - 10,170,976 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936491	10,053,546 - 10,170,950 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
Spred2	Squirrel	Noonan syndrome		ISO	RGD:1319580	8554872	ClinVar Annotator: match by term: Noonan syndrome	ClinVar	PMID:25741868\|PMID:34626534
Spred2	Squirrel	Noonan Syndrome 14		ISO	RGD:1319580	8554872	ClinVar Annotator: match by term: Noonan syndrome 14	ClinVar	PMID:25741868\|PMID:34626534

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
Spred2	Squirrel	Alzheimer's disease		ISO	RGD:1319580	9068941	CTD Direct Evidence: marker/mechanism	CTD	PMID:33589840
Spred2	Squirrel	rheumatoid arthritis		ISO	RGD:1319580	9068941	CTD Direct Evidence: marker/mechanism	CTD	PMID:20453842\|PMID:23143596

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
Spred2	Squirrel	achondroplasia		ISO	RGD:1319581	9068941	OMIM:100800	MouseDO

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
Spred2	Squirrel	Noonan Syndrome 14		ISO	RGD:1319580	7240710		OMIM

Biological Process

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

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
Spred2	Squirrel	negative regulation of epithelial to mesenchymal transition	involved_in	ISO	RGD:1319581	9068941	PMID:25576668	UniProt	PMID:25576668
Spred2	Squirrel	negative regulation of ERK1 and ERK2 cascade	involved_in	ISO	RGD:1319581	9068941	PMID:29501879	UniProt	PMID:29501879
Spred2	Squirrel	negative regulation of intracellular signal transduction	involved_in	IEA	UniProtKB:Q7Z698\|ensembl:ENSP00000348753	150520179		Ensembl	GO_REF:0000107
Spred2	Squirrel	negative regulation of lens fiber cell differentiation	involved_in	ISO	RGD:1319581	9068941	PMID:29501879	UniProt	PMID:29501879
Spred2	Squirrel	negative regulation of MAPK cascade	acts_upstream_of_or_within	ISO	RGD:1319581	9068941	PMID:12646235	MGI	PMID:12646235
Spred2	Squirrel	negative regulation of MAPK cascade	involved_in	IEA	PANTHER:PTN000128465\|PANTHER:PTN000128466	150520179		TreeGrafter	GO_REF:0000118
Spred2	Squirrel	negative regulation of transforming growth factor beta receptor signaling pathway	involved_in	ISO	RGD:1319581	9068941	PMID:25576668	UniProt	PMID:25576668
Spred2	Squirrel	positive regulation of DNA damage response, signal transduction by p53 class mediator	involved_in	ISO	RGD:1319581	9068941	PMID:20736167	BHF-UCL	PMID:20736167
Spred2	Squirrel	regulation of signal transduction	involved_in	IEA	InterPro:IPR007875	150520179		InterPro	GO_REF:0000002

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)
Spred2	Squirrel	cytoplasmic vesicle	located_in	IEA	UniProtKB-KW:KW-0968	150520179		UniProt	GO_REF:0000043
Spred2	Squirrel	membrane	located_in	IEA	UniProtKB-KW:KW-0472	150520179		UniProt	GO_REF:0000043
Spred2	Squirrel	membrane	located_in	IEA	InterPro:IPR007875	150520179		InterPro	GO_REF:0000002
Spred2	Squirrel	plasma membrane	located_in	IEA	UniProtKB-SubCell:SL-0039	150520179		UniProt	GO_REF:0000044
Spred2	Squirrel	transport vesicle membrane	located_in	IEA	UniProtKB-SubCell:SL-0245	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)
Spred2	Squirrel	protein binding	enables	ISO	UniProtKB:A0A6Q8PF08\|UniProtKB:G5E9A7\|UniProtKB:O60333-2\|UniProtKB:O76024\|UniProtKB:P02545\|UniProtKB:P14136\|UniProtKB:P19404\|UniProtKB:P22607\|UniProtKB:P27797\|UniProtKB:P28329-3\|UniProtKB:P28799\|UniProtKB:P29474\|UniProtKB:P36957\|UniProtKB:P42858\|UniProtKB:P50570-2\|UniProtKB:P51812\|UniProtKB:P60891\|UniProtKB:Q53GS7\|UniProtKB:Q7Z699\|UniProtKB:Q8TDX7\|UniProtKB:Q92870-2\|UniProtKB:Q9Y3C5	9068941	PMID:32814053	IntAct	PMID:32814053
Spred2	Squirrel	protein binding	enables	ISO	PR:P05532	9068941	PMID:12646235	MGI	PMID:12646235
Spred2	Squirrel	protein binding	enables	ISO	UniProtKB:P51812	9068941	PMID:28514442	IntAct	PMID:28514442
Spred2	Squirrel	protein binding	enables	ISO	UniProtKB:Q9NZD8	9068941	PMID:31515488	IntAct	PMID:31515488
Spred2	Squirrel	protein binding	enables	ISO	UniProtKB:O95985\|UniProtKB:Q9NZD8	9068941	PMID:25416956	IntAct	PMID:25416956
Spred2	Squirrel	protein binding	enables	ISO	UniProtKB:O95985	9068941	PMID:29892012	IntAct	PMID:29892012
Spred2	Squirrel	protein binding	enables	ISO	UniProtKB:P21359	9068941	PMID:34626534	UniProt	PMID:34626534
Spred2	Squirrel	protein binding	enables	ISO	UniProtKB:Q14596	9068941	PMID:19822672	UniProt	PMID:19822672
Spred2	Squirrel	protein binding	enables	ISO	UniProtKB:Q63572	9068941	PMID:17974561	UniProt	PMID:17974561
Spred2	Squirrel	protein binding	enables	ISO	UniProtKB:O14633\|UniProtKB:P15622-3\|UniProtKB:P17568\|UniProtKB:P29972\|UniProtKB:P47897\|UniProtKB:P59991\|UniProtKB:P62166\|UniProtKB:P62760\|UniProtKB:Q5RL73\|UniProtKB:Q5T749\|UniProtKB:Q5T751\|UniProtKB:Q5TCM9\|UniProtKB:Q86XF7\|UniProtKB:Q8TAU3\|UniProtKB:Q96EG3\|UniProtKB:Q96IQ9\|UniProtKB:Q96JP2\|UniProtKB:Q99598\|UniProtKB:Q99750\|UniProtKB:Q9BYR9\|UniProtKB:Q9NZD8\|UniProtKB:Q9NZI2-2\|UniProtKB:Q9UK32	9068941	PMID:32296183	IntAct	PMID:32296183
Spred2	Squirrel	protein binding	enables	ISO	UniProtKB:Q8IUH5	9068941	PMID:24705354, PMID:33961781	IntAct	PMID:24705354\|PMID:33961781
Spred2	Squirrel	protein kinase binding	enables	IEA	UniProtKB:Q7Z698\|ensembl:ENSP00000348753	150520179		Ensembl	GO_REF:0000107
Spred2	Squirrel	protein kinase binding	enables	IEA	PANTHER:PTN000128465\|PANTHER:PTN000128466	150520179		TreeGrafter	GO_REF:0000118
Spred2	Squirrel	protein serine/threonine kinase inhibitor activity	enables	ISO	RGD:1319581	9068941	PMID:20736167	BHF-UCL	PMID:20736167
Spred2	Squirrel	stem cell factor receptor binding	enables	ISO	PR:P05532	9068941	PMID:12646235	MGI	PMID:12646235

PMID:22301074	PMID:30032202

Spred2
(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_024406292	18,400,544 - 18,517,746 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936491	10,053,545 - 10,170,976 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936491	10,053,546 - 10,170,950 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

SPRED2
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	2	65,307,175 - 65,432,599 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	2	65,310,851 - 65,432,637 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	2	65,537,985 - 65,659,733 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	2	65,391,489 - 65,512,815 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	2	65,449,636 - 65,570,961	NCBI
Celera	2	65,384,626 - 65,506,328 (-)	NCBI		Celera
Cytogenetic Map	2	p14	NCBI
HuRef	2	65,272,227 - 65,393,668 (-)	NCBI		HuRef
CHM1_1	2	65,469,340 - 65,590,964 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	2	65,316,846 - 65,442,268 (-)	NCBI		T2T-CHM13v2.0

Spred2
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	11	19,874,442 - 19,974,026 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	11	19,874,375 - 19,974,026 (+)	Ensembl		GRCm39 Ensembl
GRCm38	11	19,924,442 - 20,024,026 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	11	19,924,375 - 20,024,026 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	11	19,824,445 - 19,922,600 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	11	19,824,445 - 19,922,600 (+)	NCBI		MGSCv36	mm8
Celera	11	22,066,219 - 22,164,240 (+)	NCBI		Celera
Cytogenetic Map	11	A3.1	NCBI
cM Map	11	12.79	NCBI

Spred2
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	14	98,350,577 - 98,452,143 (+)	NCBI		GRCr8
mRatBN7.2	14	94,149,210 - 94,250,787 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	14	94,148,837 - 94,249,162 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	14	98,490,319 - 98,591,853 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	14	99,730,616 - 99,832,149 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	14	96,197,976 - 96,299,521 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	14	104,268,362 - 104,290,206 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	14	104,191,517 - 104,290,456 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	14	104,002,472 - 104,024,316 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	14	100,775,869 - 100,797,717 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	14	100,717,198 - 100,818,203 (+)	NCBI
Celera	14	93,246,801 - 93,268,145 (+)	NCBI		Celera
Cytogenetic Map	14	q22	NCBI

Spred2
(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_004955424	19,133,568 - 19,250,118 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955424	19,133,568 - 19,250,118 (+)	NCBI	ChiLan1.0	ChiLan1.0

SPRED2
(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	12	60,961,140 - 61,083,663 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	2A	60,965,098 - 61,087,614 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	2A	65,380,608 - 65,503,139 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	2A	66,503,260 - 66,624,840 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	2A	66,503,260 - 66,624,840 (-)	Ensembl	panpan1.1		panPan2

SPRED2
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	10	64,764,275 - 64,815,937 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	10	64,764,311 - 64,867,009 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	10	64,648,640 - 64,763,412 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	10	65,771,737 - 65,886,366 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	10	65,773,399 - 65,886,224 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	10	65,450,264 - 65,564,843 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	10	65,758,109 - 65,872,866 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	10	66,053,709 - 66,168,347 (-)	NCBI		UU_Cfam_GSD_1.0

SPRED2
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	3	76,523,589 - 76,649,651 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	3	76,527,646 - 76,649,652 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	3	80,324,906 - 80,445,715 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

SPRED2
(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	14	41,574,244 - 41,699,897 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	14	41,640,758 - 41,700,009 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666045	70,192,808 - 70,318,539 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Spred2
(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_004624762	8,109,157 - 8,240,543 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624762	8,109,159 - 8,240,543 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	copy number gain	See cases [RCV000051119]	Chr2:194898783..236473913 [GRCh38] Chr2:195763507..237382556 [GRCh37] Chr2:195471752..237047295 [NCBI36] Chr2:2q32.3-37.3	pathogenic
GRCh38/hg38 2q35-36.3(chr2:219081620-225430308)x1	copy number loss	See cases [RCV000052634]	Chr2:219081620..225430308 [GRCh38] Chr2:219946342..226295024 [GRCh37] Chr2:219654586..226003268 [NCBI36] Chr2:2q35-36.3	pathogenic
GRCh38/hg38 2q36.1-36.2(chr2:221387419-224669350)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052635]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052635]\|See cases [RCV000052635]	Chr2:221387419..224669350 [GRCh38] Chr2:222252139..225534067 [GRCh37] Chr2:221960383..225242311 [NCBI36] Chr2:2q36.1-36.2	pathogenic
GRCh38/hg38 2q36.1(chr2:223597428-224061556)x1	copy number loss	See cases [RCV000052636]	Chr2:223597428..224061556 [GRCh38] Chr2:224462146..224926273 [GRCh37] Chr2:224170390..224634517 [NCBI36] Chr2:2q36.1	pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	copy number gain	See cases [RCV000052958]	Chr2:188818195..242065208 [GRCh38] Chr2:189682921..243007359 [GRCh37] Chr2:189391166..242656032 [NCBI36] Chr2:2q32.2-37.3	pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	copy number gain	See cases [RCV000052959]	Chr2:190310736..241892770 [GRCh38] Chr2:191175462..242834921 [GRCh37] Chr2:190883707..242483594 [NCBI36] Chr2:2q32.2-37.3	pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:193122313-241074980)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]\|See cases [RCV000052960]	Chr2:193122313..241074980 [GRCh38] Chr2:193987039..242014395 [GRCh37] Chr2:193695284..241663068 [NCBI36] Chr2:2q32.3-37.3	pathogenic
GRCh38/hg38 2q34-36.3(chr2:212614422-227121230)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052964]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052964]\|See cases [RCV000052964]	Chr2:212614422..227121230 [GRCh38] Chr2:213479146..227985946 [GRCh37] Chr2:213187391..227694190 [NCBI36] Chr2:2q34-36.3	pathogenic
GRCh38/hg38 2q35-36.3(chr2:219547204-228287942)x4	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052965]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052965]\|See cases [RCV000052965]	Chr2:219547204..228287942 [GRCh38] Chr2:220411926..229152658 [GRCh37] Chr2:220120170..228860902 [NCBI36] Chr2:2q35-36.3	pathogenic
NM_003469.4(SCG2):c.1783G>A (p.Glu595Lys)	single nucleotide variant	Malignant melanoma [RCV000065426]	Chr2:223597500 [GRCh38] Chr2:224462218 [GRCh37] Chr2:224170462 [NCBI36] Chr2:2q36.1	not provided
NM_003469.4(SCG2):c.923C>T (p.Ser308Phe)	single nucleotide variant	Malignant melanoma [RCV000065427]	Chr2:223598360 [GRCh38] Chr2:224463078 [GRCh37] Chr2:224171322 [NCBI36] Chr2:2q36.1	not provided
NM_003469.4(SCG2):c.534C>T (p.Pro178=)	single nucleotide variant	Malignant melanoma [RCV000065428]	Chr2:223598749 [GRCh38] Chr2:224463467 [GRCh37] Chr2:224171711 [NCBI36] Chr2:2q36.1	not provided
GRCh38/hg38 2q36.1-36.2(chr2:221663502-224426183)x1	copy number loss	See cases [RCV000135355]	Chr2:221663502..224426183 [GRCh38] Chr2:222528222..225290900 [GRCh37] Chr2:222236466..224999144 [NCBI36] Chr2:2q36.1-36.2	pathogenic
GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	copy number gain	See cases [RCV000135934]	Chr2:210579676..242126245 [GRCh38] Chr2:211444400..243059659 [GRCh37] Chr2:211152645..242717069 [NCBI36] Chr2:2q34-37.3	pathogenic
GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	copy number gain	See cases [RCV000139446]	Chr2:180513793..224302848 [GRCh38] Chr2:181378520..225167565 [GRCh37] Chr2:181086765..224875809 [NCBI36] Chr2:2q31.3-36.2	pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	copy number gain	See cases [RCV000142307]	Chr2:189436149..241841232 [GRCh38] Chr2:190300875..242783384 [GRCh37] Chr2:190009120..242432057 [NCBI36] Chr2:2q32.2-37.3	pathogenic
GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	copy number gain	See cases [RCV000143216]	Chr2:218101759..242126245 [GRCh38] Chr2:218966482..243059659 [GRCh37] Chr2:218674727..242717069 [NCBI36] Chr2:2q35-37.3	pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3	copy number gain	not provided [RCV000752802]	Chr2:14238..243048760 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
GRCh37/hg19 2q35-37.3(chr2:219966808-237815985)x3	copy number gain	See cases [RCV000448049]	Chr2:219966808..237815985 [GRCh37] Chr2:2q35-37.3	pathogenic
GRCh37/hg19 2q36.1-37.1(chr2:223378640-232061074)x1	copy number loss	See cases [RCV000448773]	Chr2:223378640..232061074 [GRCh37] Chr2:2q36.1-37.1	likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	copy number gain	See cases [RCV000512056]	Chr2:12771..242783384 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3	copy number gain	See cases [RCV000512009]	Chr2:213518431..242783384 [GRCh37] Chr2:2q34-37.3	pathogenic
GRCh37/hg19 2q36.1-37.3(chr2:222077224-239394441)x3	copy number gain	See cases [RCV000511816]	Chr2:222077224..239394441 [GRCh37] Chr2:2q36.1-37.3	pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	copy number gain	See cases [RCV000511212]	Chr2:12771..242783384 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
GRCh37/hg19 2q35-36.3(chr2:217374144-227643620)x1	copy number loss	not provided [RCV000585275]	Chr2:217374144..227643620 [GRCh37] Chr2:2q35-36.3	likely pathogenic
GRCh37/hg19 2q35-36.3(chr2:221439250-226170404)x1	copy number loss	not provided [RCV000682155]	Chr2:221439250..226170404 [GRCh37] Chr2:2q35-36.3	pathogenic
GRCh37/hg19 2q35-36.2(chr2:220614743-225587770)x1	copy number loss	not provided [RCV000682158]	Chr2:220614743..225587770 [GRCh37] Chr2:2q35-36.2	pathogenic
GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3	copy number gain	not provided [RCV000682170]	Chr2:219225872..242016876 [GRCh37] Chr2:2q35-37.3	pathogenic
GRCh37/hg19 2q35-36.3(chr2:218813434-227450699)x1	copy number loss	not provided [RCV000682163]	Chr2:218813434..227450699 [GRCh37] Chr2:2q35-36.3	pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3	copy number gain	not provided [RCV000752804]	Chr2:15672..243101834 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
Single allele	duplication	Neurodevelopmental disorder [RCV000787403]	Chr2:188926928..225298653 [GRCh37] Chr2:2q32.1-36.2	pathogenic
NM_003469.5(SCG2):c.1794C>T (p.Asn598=)	single nucleotide variant	not provided [RCV000964723]	Chr2:223597489 [GRCh38] Chr2:224462207 [GRCh37] Chr2:2q36.1	benign
NM_003469.5(SCG2):c.791A>G (p.Glu264Gly)	single nucleotide variant	not specified [RCV004302254]	Chr2:223598492 [GRCh38] Chr2:224463210 [GRCh37] Chr2:2q36.1	uncertain significance
GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3	copy number gain	See cases [RCV000790568]	Chr2:210779657..239879183 [GRCh37] Chr2:2q34-37.3	pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	copy number gain	Mosaic trisomy 2 [RCV002280628]	Chr2:1..243199373 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	copy number gain	See cases [RCV001263052]	Chr2:178397959..243007457 [GRCh37] Chr2:2q31.2-37.3	pathogenic
GRCh37/hg19 2q36.1(chr2:222621434-224754689)x1	copy number loss	not provided [RCV001259185]	Chr2:222621434..224754689 [GRCh37] Chr2:2q36.1	pathogenic
GRCh37/hg19 2q35-36.3(chr2:220056891-227164817)x1	copy number loss	not provided [RCV001537914]	Chr2:220056891..227164817 [GRCh37] Chr2:2q35-36.3	pathogenic
NM_003469.5(SCG2):c.1282C>A (p.Pro428Thr)	single nucleotide variant	not specified [RCV004300899]	Chr2:223598001 [GRCh38] Chr2:224462719 [GRCh37] Chr2:2q36.1	uncertain significance
GRCh37/hg19 2q35-37.3(chr2:219606537-239217703)	copy number loss	not specified [RCV002053285]	Chr2:219606537..239217703 [GRCh37] Chr2:2q35-37.3	pathogenic
GRCh37/hg19 2q36.1-37.1(chr2:223378640-232061074)	copy number loss	not specified [RCV002053287]	Chr2:223378640..232061074 [GRCh37] Chr2:2q36.1-37.1	pathogenic
GRCh37/hg19 2q36.1-36.2(chr2:222902251-226084516)	copy number loss	Waardenburg syndrome type 1 [RCV002280673]	Chr2:222902251..226084516 [GRCh37] Chr2:2q36.1-36.2	pathogenic
NM_003469.5(SCG2):c.947G>C (p.Arg316Thr)	single nucleotide variant	not specified [RCV004193225]	Chr2:223598336 [GRCh38] Chr2:224463054 [GRCh37] Chr2:2q36.1	uncertain significance
NM_003469.5(SCG2):c.1514G>T (p.Gly505Val)	single nucleotide variant	not specified [RCV004110908]	Chr2:223597769 [GRCh38] Chr2:224462487 [GRCh37] Chr2:2q36.1	uncertain significance
NM_003469.5(SCG2):c.372G>T (p.Glu124Asp)	single nucleotide variant	not specified [RCV004225044]	Chr2:223598911 [GRCh38] Chr2:224463629 [GRCh37] Chr2:2q36.1	uncertain significance
NM_003469.5(SCG2):c.1391C>T (p.Pro464Leu)	single nucleotide variant	not specified [RCV004208635]	Chr2:223597892 [GRCh38] Chr2:224462610 [GRCh37] Chr2:2q36.1	uncertain significance
NM_003469.5(SCG2):c.1670A>T (p.Gln557Leu)	single nucleotide variant	not specified [RCV004202417]	Chr2:223597613 [GRCh38] Chr2:224462331 [GRCh37] Chr2:2q36.1	uncertain significance
NM_003469.5(SCG2):c.1249A>G (p.Lys417Glu)	single nucleotide variant	not specified [RCV004154052]	Chr2:223598034 [GRCh38] Chr2:224462752 [GRCh37] Chr2:2q36.1	uncertain significance
NM_003469.5(SCG2):c.706G>A (p.Ala236Thr)	single nucleotide variant	not specified [RCV004123175]	Chr2:223598577 [GRCh38] Chr2:224463295 [GRCh37] Chr2:2q36.1	uncertain significance
NM_003469.5(SCG2):c.810G>T (p.Glu270Asp)	single nucleotide variant	not specified [RCV004202625]	Chr2:223598473 [GRCh38] Chr2:224463191 [GRCh37] Chr2:2q36.1	uncertain significance
NM_003469.5(SCG2):c.24G>T (p.Trp8Cys)	single nucleotide variant	not specified [RCV004180035]	Chr2:223599259 [GRCh38] Chr2:224463977 [GRCh37] Chr2:2q36.1	uncertain significance
NM_003469.5(SCG2):c.143A>G (p.Gln48Arg)	single nucleotide variant	not specified [RCV004069886]	Chr2:223599140 [GRCh38] Chr2:224463858 [GRCh37] Chr2:2q36.1	uncertain significance
NM_003469.5(SCG2):c.93G>C (p.Gln31His)	single nucleotide variant	not specified [RCV004160876]	Chr2:223599190 [GRCh38] Chr2:224463908 [GRCh37] Chr2:2q36.1	uncertain significance
NM_003469.5(SCG2):c.1112C>T (p.Thr371Ile)	single nucleotide variant	not specified [RCV004084307]	Chr2:223598171 [GRCh38] Chr2:224462889 [GRCh37] Chr2:2q36.1	uncertain significance
NM_003469.5(SCG2):c.1470A>T (p.Arg490Ser)	single nucleotide variant	not specified [RCV004222000]	Chr2:223597813 [GRCh38] Chr2:224462531 [GRCh37] Chr2:2q36.1	uncertain significance
NM_003469.5(SCG2):c.657G>T (p.Met219Ile)	single nucleotide variant	not specified [RCV004221903]	Chr2:223598626 [GRCh38] Chr2:224463344 [GRCh37] Chr2:2q36.1	uncertain significance
NM_003469.5(SCG2):c.322G>C (p.Glu108Gln)	single nucleotide variant	not specified [RCV004267872]	Chr2:223598961 [GRCh38] Chr2:224463679 [GRCh37] Chr2:2q36.1	uncertain significance
NM_003469.5(SCG2):c.1220A>G (p.Asn407Ser)	single nucleotide variant	not specified [RCV004351703]	Chr2:223598063 [GRCh38] Chr2:224462781 [GRCh37] Chr2:2q36.1	uncertain significance
NM_003469.5(SCG2):c.932T>A (p.Ile311Asn)	single nucleotide variant	not specified [RCV004336101]	Chr2:223598351 [GRCh38] Chr2:224463069 [GRCh37] Chr2:2q36.1	uncertain significance
NM_003469.5(SCG2):c.407C>T (p.Ala136Val)	single nucleotide variant	not specified [RCV004356138]	Chr2:223598876 [GRCh38] Chr2:224463594 [GRCh37] Chr2:2q36.1	uncertain significance
GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	copy number gain	not provided [RCV003484087]	Chr2:218376403..242783384 [GRCh37] Chr2:2q35-37.3	pathogenic
GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	copy number gain	See cases [RCV004442836]	Chr2:216815496..242782258 [GRCh37] Chr2:2q35-37.3	pathogenic
NM_003469.5(SCG2):c.1054A>G (p.Ile352Val)	single nucleotide variant	not specified [RCV004452777]	Chr2:223598229 [GRCh38] Chr2:224462947 [GRCh37] Chr2:2q36.1	uncertain significance
NM_003469.5(SCG2):c.1147C>T (p.Arg383Trp)	single nucleotide variant	not specified [RCV004452779]	Chr2:223598136 [GRCh38] Chr2:224462854 [GRCh37] Chr2:2q36.1	uncertain significance
NM_003469.5(SCG2):c.1639A>G (p.Ile547Val)	single nucleotide variant	not specified [RCV004452782]	Chr2:223597644 [GRCh38] Chr2:224462362 [GRCh37] Chr2:2q36.1	uncertain significance
NM_003469.5(SCG2):c.934G>T (p.Ala312Ser)	single nucleotide variant	not specified [RCV004452785]	Chr2:223598349 [GRCh38] Chr2:224463067 [GRCh37] Chr2:2q36.1	uncertain significance
NM_003469.5(SCG2):c.1730A>G (p.Asp577Gly)	single nucleotide variant	not specified [RCV004452783]	Chr2:223597553 [GRCh38] Chr2:224462271 [GRCh37] Chr2:2q36.1	uncertain significance
NM_003469.5(SCG2):c.1495G>A (p.Asp499Asn)	single nucleotide variant	not specified [RCV004452781]	Chr2:223597788 [GRCh38] Chr2:224462506 [GRCh37] Chr2:2q36.1	uncertain significance
NM_003469.5(SCG2):c.1098T>G (p.Ile366Met)	single nucleotide variant	not specified [RCV004452778]	Chr2:223598185 [GRCh38] Chr2:224462903 [GRCh37] Chr2:2q36.1	uncertain significance
NM_003469.5(SCG2):c.1179C>G (p.Asp393Glu)	single nucleotide variant	not specified [RCV004452780]	Chr2:223598104 [GRCh38] Chr2:224462822 [GRCh37] Chr2:2q36.1	uncertain significance
NM_003469.5(SCG2):c.467G>T (p.Trp156Leu)	single nucleotide variant	not specified [RCV004452784]	Chr2:223598816 [GRCh38] Chr2:224463534 [GRCh37] Chr2:2q36.1	uncertain significance
NM_003469.5(SCG2):c.1624C>A (p.Gln542Lys)	single nucleotide variant	not specified [RCV004658691]	Chr2:223597659 [GRCh38] Chr2:224462377 [GRCh37] Chr2:2q36.1	uncertain significance
NM_003469.5(SCG2):c.396T>G (p.Asn132Lys)	single nucleotide variant	not specified [RCV004658692]	Chr2:223598887 [GRCh38] Chr2:224463605 [GRCh37] Chr2:2q36.1	uncertain significance
NM_003469.5(SCG2):c.978A>C (p.Leu326Phe)	single nucleotide variant	not specified [RCV004658690]	Chr2:223598305 [GRCh38] Chr2:224463023 [GRCh37] Chr2:2q36.1	uncertain significance
NM_003469.5(SCG2):c.1331G>A (p.Ser444Asn)	single nucleotide variant	not specified [RCV004674559]	Chr2:223597952 [GRCh38] Chr2:224462670 [GRCh37] Chr2:2q36.1	likely benign
NM_003469.5(SCG2):c.1352C>T (p.Ser451Leu)	single nucleotide variant	not specified [RCV004858860]	Chr2:223597931 [GRCh38] Chr2:224462649 [GRCh37] Chr2:2q36.1	uncertain significance
NM_003469.5(SCG2):c.166A>G (p.Ile56Val)	single nucleotide variant	not specified [RCV004858861]	Chr2:223599117 [GRCh38] Chr2:224463835 [GRCh37] Chr2:2q36.1	uncertain significance
NM_003469.5(SCG2):c.1448G>C (p.Trp483Ser)	single nucleotide variant	not specified [RCV004858857]	Chr2:223597835 [GRCh38] Chr2:224462553 [GRCh37] Chr2:2q36.1	uncertain significance
NM_003469.5(SCG2):c.1262G>A (p.Arg421His)	single nucleotide variant	not specified [RCV004858858]	Chr2:223598021 [GRCh38] Chr2:224462739 [GRCh37] Chr2:2q36.1	likely benign
NM_003469.5(SCG2):c.443G>A (p.Ser148Asn)	single nucleotide variant	not specified [RCV004858862]	Chr2:223598840 [GRCh38] Chr2:224463558 [GRCh37] Chr2:2q36.1	uncertain significance
NM_003469.5(SCG2):c.646C>T (p.Arg216Cys)	single nucleotide variant	not specified [RCV004858859]	Chr2:223598637 [GRCh38] Chr2:224463355 [GRCh37] Chr2:2q36.1	uncertain significance

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


RefSeq Transcripts	XM_005322077	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_040271566	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_040271567	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	JAESOR010001352	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENSSTOT00000027694 ⟹ ENSSTOP00000022231

Type:

CODING

Position:

Squirrel Assembly	Chr	Position (strand)	Source
SpeTri2.0 Ensembl	NW_004936491	10,053,545 - 10,170,976 (-)	Ensembl

Ensembl Acc Id:

ENSSTOT00000032013 ⟹ ENSSTOP00000031425

Type:

CODING

Position:

Squirrel Assembly	Chr	Position (strand)	Source
SpeTri2.0 Ensembl	NW_004936491	10,056,171 - 10,087,486 (-)	Ensembl

RefSeq Acc Id:

XM_040271566 ⟹ XP_040127500

Type:

CODING

Position:

Squirrel Assembly	Chr	Position (strand)	Source
HiC_Itri_2	NW_024406292	18,400,544 - 18,517,746 (+)	NCBI

RefSeq Acc Id:

XM_040271567 ⟹ XP_040127501

Type:

CODING

Position:

Squirrel Assembly	Chr	Position (strand)	Source
HiC_Itri_2	NW_024406292	18,467,297 - 18,517,746 (+)	NCBI


Protein RefSeqs	XP_040127500	(Get FASTA)	NCBI Sequence Viewer
	XP_040127501	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSSTOP00000022231.2
	ENSSTOP00000031425.1
GenBank Protein	KAG3267215	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	XP_040127500 ⟸ XM_040271566
- Peptide Label:	isoform X1
- UniProtKB:	I3NCY4 (UniProtKB/TrEMBL), A0A287DCX5 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_040127501 ⟸ XM_040271567
- Peptide Label:	isoform X2
- UniProtKB:	A0A287DCX5 (UniProtKB/TrEMBL)

Ensembl Acc Id:

ENSSTOP00000031425 ⟸ ENSSTOT00000032013

Ensembl Acc Id:

ENSSTOP00000022231 ⟸ ENSSTOT00000027694

Protein Domains

KBD WH1

Database	Acc Id	Source(s)
Ensembl Genes	ENSSTOG00000022318	Ensembl, UniProtKB/TrEMBL
Ensembl Transcript	ENSSTOT00000027694.2	UniProtKB/TrEMBL
	ENSSTOT00000032013.1	UniProtKB/TrEMBL
Gene3D-CATH	2.30.29.30	UniProtKB/TrEMBL
InterPro	KBD	UniProtKB/TrEMBL
	PH-like_dom_sf	UniProtKB/TrEMBL
	SPRE_EVH1	UniProtKB/TrEMBL
	Sprouty	UniProtKB/TrEMBL
	WH1/EVH1_dom	UniProtKB/TrEMBL
NCBI Gene	Spred2	ENTREZGENE
PANTHER	SPROUTY-RELATED, EVH1 DOMAIN-CONTAINING PROTEIN 2	UniProtKB/TrEMBL
	SPROUTY-RELATED, EVH1 DOMAIN-CONTAINING PROTEIN FAMILY MEMBER	UniProtKB/TrEMBL
Pfam	Sprouty	UniProtKB/TrEMBL
	WH1	UniProtKB/TrEMBL
PROSITE	KBD	UniProtKB/TrEMBL
	SPR	UniProtKB/TrEMBL
	WH1	UniProtKB/TrEMBL
SMART	WH1	UniProtKB/TrEMBL
Superfamily-SCOP	PH domain-like	UniProtKB/TrEMBL
UniProt	A0A287DCX5	ENTREZGENE, UniProtKB/TrEMBL
	I3NCY4	ENTREZGENE, UniProtKB/TrEMBL

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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