Advanced Search (OLGA)

Gene: SKA2 (spindle and kinetochore associated complex subunit 2) Homo sapiens

Analyze

Symbol:

SKA2

Name:

spindle and kinetochore associated complex subunit 2

RGD ID:

1316064

HGNC Page

HGNC:28006

Description:

Enables microtubule binding activity. Involved in attachment of mitotic spindle microtubules to kinetochore and regulation of microtubule polymerization or depolymerization. Located in kinetochore and spindle microtubule. Part of SKA complex.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

FAM33A; family with sequence similarity 33, member A; FLJ12758; MGC110975; spindle and kinetochore-associated protein 2; spindle and KT (kinetochore) associated 2

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Related Pseudogenes:

SKA2P1

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	59,109,857 - 59,155,186 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	17	59,109,857 - 59,155,260 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	17	57,187,218 - 57,232,547 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	17	54,542,090 - 54,587,582 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	17	54,543,742 - 54,587,343	NCBI
Celera	17	53,649,948 - 53,695,816 (-)	NCBI		Celera
Cytogenetic Map	17	q22	NCBI
HuRef	17	52,547,893 - 52,593,823 (-)	NCBI		HuRef
CHM1_1	17	57,252,805 - 57,298,295 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	17	59,977,953 - 60,023,284 (-)	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

Joubert syndrome 1 (IAGP)

mulibrey nanism (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

17beta-estradiol (ISO)

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

2-hydroxypropanoic acid (EXP)

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

4,4'-sulfonyldiphenol (EXP)

4-hydroxyphenyl retinamide (ISO)

6-propyl-2-thiouracil (ISO)

acetamide (ISO)

aflatoxin M1 (EXP)

all-trans-retinoic acid (EXP)

antirheumatic drug (EXP)

arsenite(3-) (EXP)

benzo[a]pyrene (EXP,ISO)

bisphenol A (ISO)

bisphenol F (EXP)

cadmium atom (EXP)

cadmium dichloride (EXP)

calcitriol (EXP)

carbamazepine (EXP)

CGP 52608 (EXP)

chlordecone (ISO)

cisplatin (EXP)

cobalt dichloride (EXP)

copper atom (EXP,ISO)

copper(0) (EXP,ISO)

coumestrol (EXP)

crocidolite asbestos (ISO)

Cuprizon (ISO)

cyclosporin A (EXP)

DDE (EXP)

decabromodiphenyl ether (ISO)

dexamethasone (EXP)

Dibutyl phosphate (EXP)

dorsomorphin (EXP)

doxorubicin (EXP)

endosulfan (ISO)

Enterolactone (EXP)

epoxiconazole (ISO)

ethanol (ISO)

FR900359 (EXP)

indometacin (EXP)

lead(0) (EXP)

methotrexate (EXP)

methylparaben (EXP)

N(4)-hydroxycytidine (ISO)

N-Nitrosopyrrolidine (EXP)

ochratoxin A (ISO)

oxaliplatin (ISO)

ozone (ISO)

paracetamol (EXP,ISO)

phenethyl isothiocyanate (EXP)

rac-lactic acid (EXP)

resveratrol (EXP)

SB 431542 (EXP)

sulforaphane (EXP)

sunitinib (EXP)

testosterone (EXP)

thimerosal (EXP)

thiram (EXP)

titanium dioxide (ISO)

topotecan (ISO)

trichostatin A (EXP)

trimellitic anhydride (ISO)

triphenyl phosphate (EXP,ISO)

valproic acid (EXP,ISO)

vorinostat (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

attachment of mitotic spindle microtubules to kinetochore (IDA)

cell division (IEA)

chromosome segregation (IBA,IEA)

establishment of meiotic spindle orientation (IEA,ISS)

mitotic cell cycle (IBA)

mitotic metaphase chromosome alignment (IPI)

mitotic sister chromatid segregation (IMP)

regulation of microtubule polymerization or depolymerization (IDA)

spindle assembly involved in female meiosis (IEA,ISS)

Cellular Component

chromosome (IEA)

chromosome, centromeric region (IEA)

cytoplasm (IEA)

cytoskeleton (IEA)

cytosol (TAS)

kinetochore (IEA,IPI)

meiotic spindle (IEA)

microtubule (IEA)

outer kinetochore (IBA,IDA,IEA)

SKA complex (IDA)

spindle (IEA)

spindle microtubule (IBA,IDA,IEA)

Molecular Function

microtubule binding (IBA,IDA,IEA)

protein binding (IPI)

References

References - curated

#	Reference Title	Reference Citation
1.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
2.	Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.	Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.

Additional References at PubMed

PMID:14702039	PMID:15489334	PMID:16344560	PMID:17093495	PMID:17207965	PMID:18583474	PMID:19156129	PMID:19289083	PMID:19360002	PMID:20470754	PMID:21633384	PMID:21873635
PMID:21988832	PMID:22371557	PMID:22483620	PMID:23666239	PMID:25073599	PMID:26162986	PMID:26186194	PMID:26305478	PMID:26324104	PMID:26361058	PMID:26496610	PMID:26638075
PMID:26824422	PMID:26902949	PMID:27030168	PMID:27038412	PMID:27121316	PMID:28257042	PMID:28479321	PMID:28495837	PMID:28514442	PMID:29268205	PMID:29487209	PMID:29568061
PMID:30104400	PMID:30387823	PMID:30760381	PMID:31035118	PMID:31732153	PMID:31804178	PMID:32241158	PMID:32296183	PMID:32364083	PMID:32682011	PMID:32694731	PMID:33106477
PMID:33244865	PMID:33477943	PMID:33961781	PMID:33981010	PMID:34045512	PMID:34373451	PMID:35439318	PMID:37204142	PMID:37845495	PMID:38528004

Genomics

Comparative Map Data

SKA2
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	17	59,109,857 - 59,155,186 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	17	59,109,857 - 59,155,260 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	17	57,187,218 - 57,232,547 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	17	54,542,090 - 54,587,582 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	17	54,543,742 - 54,587,343	NCBI
Celera	17	53,649,948 - 53,695,816 (-)	NCBI		Celera
Cytogenetic Map	17	q22	NCBI
HuRef	17	52,547,893 - 52,593,823 (-)	NCBI		HuRef
CHM1_1	17	57,252,805 - 57,298,295 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	17	59,977,953 - 60,023,284 (-)	NCBI		T2T-CHM13v2.0

Ska2
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	11	87,000,087 - 87,013,800 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	11	87,000,060 - 87,015,461 (+)	Ensembl		GRCm39 Ensembl
GRCm38	11	87,109,261 - 87,122,974 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	11	87,109,234 - 87,124,635 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	11	86,922,763 - 86,936,476 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	11	86,925,456 - 86,939,169 (+)	NCBI		MGSCv36	mm8
Celera	11	96,711,276 - 96,725,039 (+)	NCBI		Celera
Cytogenetic Map	11	C	NCBI
cM Map	11	51.91	NCBI

Ska2
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	10	72,418,707 - 72,436,721 (+)	NCBI		GRCr8
mRatBN7.2	10	71,921,474 - 71,939,461 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	10	71,921,582 - 71,939,458 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	10	76,532,084 - 76,549,889 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	10	76,036,988 - 76,054,793 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	10	71,501,512 - 71,519,317 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	10	74,413,989 - 74,431,922 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	10	74,413,989 - 74,431,922 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	10	75,668,741 - 75,686,674 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	10	75,383,081 - 75,400,888 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	10	75,397,450 - 75,415,258 (+)	NCBI
Celera	10	70,837,768 - 70,855,580 (+)	NCBI		Celera
Cytogenetic Map	10	q26	NCBI

Ska2
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0	NW_004955451	3,839,978 - 3,862,200 (+)	NCBI	ChiLan1.0	ChiLan1.0

SKA2
(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	75,277,226 - 75,322,545 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	17	80,090,268 - 80,133,900 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	17	53,181,345 - 53,226,761 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	17	58,030,137 - 58,076,113 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	17	58,030,137 - 58,076,113 (-)	Ensembl	panpan1.1		panPan2

SKA2
(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	33,692,089 - 33,728,398 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	9	33,692,302 - 33,728,281 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	9	32,925,938 - 32,962,035 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	9	34,497,651 - 34,533,814 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	9	34,495,485 - 34,533,816 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	9	33,283,420 - 33,319,561 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	9	33,572,430 - 33,608,584 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	9	33,659,101 - 33,695,267 (-)	NCBI		UU_Cfam_GSD_1.0

Ska2
(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	32,918,501 - 32,956,260 (-)	NCBI		HiC_Itri_2
SpeTri2.0	NW_004936490	4,119,050 - 4,157,491 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

SKA2
(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	35,396,567 - 35,433,299 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	12	35,396,565 - 35,433,294 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	12	37,074,628 - 37,111,229 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

SKA2
(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	34,266,937 - 34,306,970 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	16	34,267,161 - 34,304,686 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666077	5,069,273 - 5,109,026 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Variants

Variants in SKA2
9 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 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
GRCh38/hg38 17q22-23.1(chr17:59151820-59547491)x3	copy number gain	See cases [RCV000136959]	Chr17:59151820..59547491 [GRCh38] Chr17:57229181..57624852 [GRCh37] Chr17:54583963..54979634 [NCBI36] Chr17:17q22-23.1	benign
GRCh38/hg38 17q22-23.1(chr17:57418806-59735464)x1	copy number loss	See cases [RCV000140211]	Chr17:57418806..59735464 [GRCh38] Chr17:55496167..57812825 [GRCh37] Chr17:52851166..55167607 [NCBI36] Chr17:17q22-23.1	pathogenic
GRCh38/hg38 17q22-23.1(chr17:59151705-59547602)x3	copy number gain	See cases [RCV000139556]	Chr17:59151705..59547602 [GRCh38] Chr17:57229066..57624963 [GRCh37] Chr17:54583848..54979745 [NCBI36] Chr17:17q22-23.1	likely benign
GRCh37/hg19 17q22-23.3(chr17:56321134-62080001)x3	copy number gain	See cases [RCV000240364]	Chr17:56321134..62080001 [GRCh37] Chr17:17q22-23.3	pathogenic
GRCh37/hg19 17q22(chr17:52189051-57477162)x3	copy number gain	See cases [RCV000448801]	Chr17:52189051..57477162 [GRCh37] Chr17:17q22	pathogenic
GRCh37/hg19 17q21.33-23.2(chr17:49076980-58740945)x3	copy number gain	See cases [RCV000448805]	Chr17:49076980..58740945 [GRCh37] Chr17:17q21.33-23.2	pathogenic
GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	copy number gain	See cases [RCV000447823]	Chr17:42580684..81085615 [GRCh37] Chr17:17q21.31-25.3	pathogenic
GRCh37/hg19 17q22-23.1(chr17:57159678-57665342)x3	copy number gain	See cases [RCV000510643]	Chr17:57159678..57665342 [GRCh37] Chr17:17q22-23.1	uncertain significance
GRCh37/hg19 17q22-23.1(chr17:57070141-57752711)x3	copy number gain	See cases [RCV000510335]	Chr17:57070141..57752711 [GRCh37] Chr17:17q22-23.1	uncertain significance
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 17q22-23.2(chr17:56623275-60285107)x1	copy number loss	See cases [RCV000511292]	Chr17:56623275..60285107 [GRCh37] Chr17:17q22-23.2	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 17q22(chr17:57045488-57404278)x3	copy number gain	not provided [RCV000513051]	Chr17:57045488..57404278 [GRCh37] Chr17:17q22	uncertain significance
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 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 17q22(chr17:57177648-57576615)x3	copy number gain	not provided [RCV000847865]	Chr17:57177648..57576615 [GRCh37] Chr17:17q22	uncertain significance
NC_000017.10:g.57075470_57235248del159779	deletion	Mulibrey nanism syndrome [RCV000785665]	Chr17:58998109..59157887 [GRCh38] Chr17:57075470..57235248 [GRCh37] Chr17:17q22	likely pathogenic
GRCh37/hg19 17q22(chr17:57059828-57375023)x3	copy number gain	not provided [RCV000846313]	Chr17:57059828..57375023 [GRCh37] Chr17:17q22	uncertain significance
GRCh37/hg19 17q22(chr17:56780562-57251609)x1	copy number loss	See cases [RCV001194580]	Chr17:56780562..57251609 [GRCh37] Chr17:17q22	pathogenic
GRCh37/hg19 17q22-23.1(chr17:57177520-57616383)x3	copy number gain	not provided [RCV001834301]	Chr17:57177520..57616383 [GRCh37] Chr17:17q22-23.1	uncertain significance
NC_000017.10:g.(?_54671585)_(59938900_?)dup	duplication	Familial aplasia of the vermis [RCV001923071]	Chr17:54671585..59938900 [GRCh37] Chr17:17q22-23.2	uncertain significance
NC_000017.10:g.(?_56798087)_(57771213_?)dup	duplication	not provided [RCV003119567]	Chr17:56798087..57771213 [GRCh37] Chr17:17q22-23.1	uncertain significance
NM_182620.4(SKA2):c.229C>T (p.Arg77Cys)	single nucleotide variant	not specified [RCV004202730]	Chr17:59119387 [GRCh38] Chr17:57196748 [GRCh37] Chr17:17q22	uncertain significance
NM_182620.4(SKA2):c.244G>A (p.Val82Met)	single nucleotide variant	not specified [RCV004135415]	Chr17:59119372 [GRCh38] Chr17:57196733 [GRCh37] Chr17:17q22	uncertain significance
NM_182620.4(SKA2):c.253A>T (p.Thr85Ser)	single nucleotide variant	not specified [RCV004455990]	Chr17:59119363 [GRCh38] Chr17:57196724 [GRCh37] Chr17:17q22	uncertain significance
NM_182620.4(SKA2):c.256A>G (p.Met86Val)	single nucleotide variant	not specified [RCV004455991]	Chr17:59119360 [GRCh38] Chr17:57196721 [GRCh37] Chr17:17q22	uncertain significance
NM_182620.4(SKA2):c.69A>G (p.Gln23=)	single nucleotide variant	not specified [RCV004669964]	Chr17:59131332 [GRCh38] Chr17:57208693 [GRCh37] Chr17:17q22	likely benign
NM_182620.4(SKA2):c.87A>G (p.Glu29=)	single nucleotide variant	not specified [RCV004864440]	Chr17:59131314 [GRCh38] Chr17:57208675 [GRCh37] Chr17:17q22	likely benign
NM_182620.4(SKA2):c.78G>A (p.Leu26=)	single nucleotide variant	not specified [RCV004864441]	Chr17:59131323 [GRCh38] Chr17:57208684 [GRCh37] Chr17:17q22	likely benign

miRNA Target Status (No longer updated)

Predicted Target Of

	Summary Value
Count of predictions:	1822
Count of miRNA genes:	717
Interacting mature miRNAs:	821
Transcripts:	ENST00000330137, ENST00000437036, ENST00000578105, ENST00000578519, ENST00000580541, ENST00000581068, ENST00000583380, ENST00000583927, ENST00000583976, ENST00000584089
Prediction methods:	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.

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
597238952	GWAS1335026_H	occupational attainment QTL GWAS1335026 (human)		8e-09	occupational attainment		17	59128763	59128764	Human
597061355	GWAS1157429_H	reaction time measurement QTL GWAS1157429 (human)		0.000006	reaction time measurement		17	59125280	59125281	Human
597142200	GWAS1238274_H	C-reactive protein measurement QTL GWAS1238274 (human)		1e-09	C-reactive protein measurement	blood C-reactive protein level (CMO:0003160)	17	59116876	59116877	Human
406989229	GWAS638205_H	gestational age QTL GWAS638205 (human)		0.000002	gestational age		17	59152355	59152356	Human

Markers in Region

RH78002

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	57,188,861 - 57,189,037	UniSTS	GRCh37
Build 36	17	54,543,643 - 54,543,819	RGD	NCBI36
Celera	17	53,651,501 - 53,651,677	RGD
Cytogenetic Map	17	q22	UniSTS
HuRef	17	52,549,447 - 52,549,623	UniSTS
GeneMap99-GB4 RH Map	17	375.41	UniSTS

WI-10139

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	57,187,468 - 57,187,683	UniSTS	GRCh37
Build 36	17	54,542,250 - 54,542,465	RGD	NCBI36
Celera	17	53,650,108 - 53,650,323	RGD
Cytogenetic Map	17	q22	UniSTS
HuRef	17	52,548,053 - 52,548,268	UniSTS
Whitehead-YAC Contig Map	17		UniSTS

G42225

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	57,195,714 - 57,195,884	UniSTS	GRCh37
Build 36	17	54,550,496 - 54,550,666	RGD	NCBI36
Celera	17	53,658,637 - 53,658,807	RGD
Cytogenetic Map	17	q22	UniSTS
HuRef	17	52,556,300 - 52,556,470	UniSTS

RH102995

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	57,187,514 - 57,187,685	UniSTS	GRCh37
Build 36	17	54,542,296 - 54,542,467	RGD	NCBI36
Celera	17	53,650,154 - 53,650,325	RGD
Cytogenetic Map	17	q22	UniSTS
HuRef	17	52,548,099 - 52,548,270	UniSTS
GeneMap99-GB4 RH Map	17	372.1	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	174	1

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001100595	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001330399	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_182620	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC099850	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK022820	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK056473	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC017873	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC106003	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BQ019350	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471109	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068261	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA020580	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA133216	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB158057	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	FJ648812	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000330137 ⟹ ENSP00000333433

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	59,109,857 - 59,155,186 (-)	Ensembl

Ensembl Acc Id:

ENST00000437036 ⟹ ENSP00000411231

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	59,112,047 - 59,155,194 (-)	Ensembl

Ensembl Acc Id:

ENST00000578105 ⟹ ENSP00000462918

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	59,111,888 - 59,155,184 (-)	Ensembl

Ensembl Acc Id:

ENST00000578519 ⟹ ENSP00000464558

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	59,111,890 - 59,155,182 (-)	Ensembl

Ensembl Acc Id:

ENST00000580541 ⟹ ENSP00000462197

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	59,111,886 - 59,155,184 (-)	Ensembl

Ensembl Acc Id:

ENST00000581068 ⟹ ENSP00000462220

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	59,111,956 - 59,155,248 (-)	Ensembl

Ensembl Acc Id:

ENST00000583380 ⟹ ENSP00000462574

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	59,112,091 - 59,155,174 (-)	Ensembl

Ensembl Acc Id:

ENST00000583927

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	59,111,943 - 59,155,260 (-)	Ensembl

Ensembl Acc Id:

ENST00000583976 ⟹ ENSP00000463167

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	59,112,262 - 59,155,177 (-)	Ensembl

Ensembl Acc Id:

ENST00000584089 ⟹ ENSP00000463315

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	59,119,387 - 59,151,801 (-)	Ensembl

RefSeq Acc Id:

NM_001100595 ⟹ NP_001094065

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	59,109,857 - 59,155,186 (-)	NCBI
GRCh37	17	57,187,308 - 57,232,800 (-)	RGD
GRCh37	17	57,187,308 - 57,232,800 (-)	NCBI
Build 36	17	54,542,090 - 54,587,582 (-)	NCBI Archive
Celera	17	53,649,948 - 53,695,816 (-)	RGD
HuRef	17	52,547,893 - 52,593,823 (-)	RGD
CHM1_1	17	57,252,805 - 57,298,295 (-)	NCBI
T2T-CHM13v2.0	17	59,977,953 - 60,023,284 (-)	NCBI

Sequence:

show sequence

CTGCGGAATGTCAACTATTCAACATGGAGGCGGAGGTCGATAAGCTGGAACTGATGGTGAGTGC
AAAGTGAAGGAGATCTACTGGGTAGTTTATTTTTCCCCCATGGCCTCGGAGGTGGGGCACAATT
TGGAGTCGCCGGAAACTCCGGGCGGCGGAGGCTGGACCAGAGTCGAGTTCCCTCCTCCTGCACC
AAAGGGAGCCGCCACCGTCTGGTGTCTAAACCGCCTCGGTTCCAGAAAGCTGAGTCTGATCTGG
ATTACATTCAATACAGGCTGGAATATGAAATCAAGACTAATCATCCTGATTCAGCAAGTGAGCT
GTCACCACTGACTAAAGAAGAGAAAACTGCGGCAGAGCAATTCAAATTTCACATGCCAGATTTA
TGAAGAAATGGACTTGGAAAGGAAATTCTAACAGAGAAGAGCTTAATTCCGGAGAAATTTAGGA
AGATGTCTTGTTAACCCTTGATGTCTAGAGATTGGGGGCTGGTGAAGGGGGTTTGGCTTCAATG
ACTGGATAATGATATCTTTCATGAGAGAGATTATAAGAAGAAGGGCAGATAATATATGAATAAA
GTTCAGCCAAAAGGATCAAATGAGAATAAAACGATTTAAATATATGTACACACGCATGCACACA
CACACTTAGTCTTGTAATTTCAGGCCAGAAATTCTCAACACTATTTTGCATCTGTTTTCTTTTT
CTAAGTCATGATAATATAGATGTTCTGGTCTATCATAAAAGAATGTTTATGTACATTTCAGTCA
TTCGGTATGTGGCTTTGTAAATTAAAGTATAGGCAAAACATTTGTGTTATACATGATATATAAT
TTCATTTTGTAAATGTTGATTGCACATGTGGTCACATTATTGTTGAGACTGCTTTTATGTGACC
TGTAGTCTCCCACAGAACCTAAAGTAATAAGCTGGCTTTTCTGTGATAGCCACGTTTGCGTATT
TCTTTCCCTATTTCCCTTGCCTGCTAATGTTGAACAGCATGAACTTGCTTTCTGATGCTGTTTT
AGACTGTCCCTGTTGTATCTCAATAATATCTTTGTTTTCCTTCAGCCTTTATTACTATAATTGT
TCATTCTACATGAAAGCTAGGAAACTGAAATTAGAAGAGCACTTATCTGCTACTTGCCAGTTTT
GCGTGAGTGTGTTATATGTATGTGTCAATTTCCCTTTAAAATAACTATTTATTTTAAAATAACT
ATTGGCAATAAGGAAACTGTTCAAAGTAGAGGCAGATCTTGATAGAAAGATGTTAATCACAGGG
TTGTTTATAATAGCAATATACATACACATTTGGCTAGTACTAGGTGAATAGGAAAATAAATCAT
GCTGTATGTATACAATAAGAGGTCAAGTTGCCAATAAATTATTACTGTTAATGTTCTGGGAAAT
GCTGAAACTATGCTAAGTGGGGGAGAGGGAAAGCAGGTATTGCAGTTTTGTAGTGAAGATTGGG
CTTTGGAGTCATATCTGAGATGTAAGTAGCAGCTTTTAAATTCTAGCTATGACCCTGTGCAGAT
CACTTAACTTTTGAGTGTCAGGATGTTTGGAAGGACAAGACAGGAAAGTGTTTTAATACAGGGT
TCAGTATTTAGTAAGCCTTCAATAAGTGATATTACATACATGTAATAAAAACTAAGCATTGAAA
GGACTAGGAAAAATGCATCAAATGTTAGTTCTGCAGGTTATAGAATTATACTTTTATGTAATTT
TAAAATTTCAGTTATGAACATGTTTGTCCATTAACAAACTTATAATAGCTGAAAAACAGGGTTG
TGAGAACAGCTTCAGTTAAAATTGTCCTGTCTAGTTTGAATATTTCAAGAACAGAAAGCCTTTT
TTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAGGCTGGAATGCAGTGGTAC
GCTCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAGTTCTCTGCCCCACCCTCCCGAG
TAGCTGGGATTACAGGCGCCCGCCACCACGCCCGGCTATTTTTTTGTATTTTTAGTAGAGATGG
GGCTTCACCATCTTGACCAGGCTGGTCTTTAACTCCTGATGGTGATCCACCCACCTCGGCCTCC
CAAAGTGCTGGGATTACAGGCATGAGCTACCGTGCCTGGCCCCCTTTTTTTTAATTACAGAGAA
ATAAGTTACACCTTAGTATCAGATATTAATTTTCTTCAGTGTTCAGGCAATTAGTATTTAGAAA
GCTCTTGTCATGAGATGGCTCTGGGATGTGATGATGATTGTTGGGATTGAAAAAACGGTAGTAT
CATGGAGAGATCATAATAAATTCTTAGTATTAAAAGTGGTTTTGCTTTCAGTTAGGGAGAAAAA
TTAGATTGTACTATTTTTCCTCTATGATTTCCTTCAGTTATCTTCCAAATGTTGTTTTTTCCCC
ACAGCCCCCTTAACATTGTTCTCTATGCACTTCTCAATACATTTTCATTTGTTTCTCAAGCCTC
TTTGTGGATGACTCCTAAATATAACTTCTTCCACTAGCTCTAGATCCGTATTTCCAATAAAATC
CCCTACCTGAATATTCAAGTTAAACATGTCCAGAATACTTACTGATTTTATTGTTAATAGCCAC
TATTCTGTTGTCTGGAATTAAAACCTGTATAACTAATTTGCATCCCTTTATCTTCTTAGTCAAT
AAAACCTACAATCCTCTTTCTAAAATGGTCATAGTATACAACCTCTACATTATCTTCACACCTC
CTTAATTTAGATCTTTTGTTTCTCATTTGGATTATAATTGTTTTCTCCTATGTGA

hide sequence

RefSeq Acc Id:

NM_001330399 ⟹ NP_001317328

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	59,109,857 - 59,155,186 (-)	NCBI
T2T-CHM13v2.0	17	59,977,953 - 60,023,284 (-)	NCBI

Sequence:

show sequence

CTGCGGAATGTCAACTATTCAACATGGAGGCGGAGGTCGATAAGCTGGAACTGATGTTCCAGAA
AGCTGAGTCTGATCTGGATTACATTCAATACAGGCTGGAATATGAAATCAAGACTAATCATCCT
GATTCAGCAAGTGAGAAAAATCCAGTTACACTCTTAAAGGAATTGTCAGTGATAAAGTCTCGAT
ATCAAACTTTGTATGCCCGCTTTAAACCAGTTGCTGTTGAGCAGAAAGAGAGTAAGAGCCGCAT
TTGTGCTACTGTGAAAAAGACTATGAATATGATACAAAAACTACAGAAGCAAACAGACCTGGAG
GTAATGCTTTCAGTTGACAGCTGTCACCACTGACTAAAGAAGAGAAAACTGCGGCAGAGCAATT
CAAATTTCACATGCCAGATTTATGAAGAAATGGACTTGGAAAGGAAATTCTAACAGAGAAGAGC
TTAATTCCGGAGAAATTTAGGAAGATGTCTTGTTAACCCTTGATGTCTAGAGATTGGGGGCTGG
TGAAGGGGGTTTGGCTTCAATGACTGGATAATGATATCTTTCATGAGAGAGATTATAAGAAGAA
GGGCAGATAATATATGAATAAAGTTCAGCCAAAAGGATCAAATGAGAATAAAACGATTTAAATA
TATGTACACACGCATGCACACACACACTTAGTCTTGTAATTTCAGGCCAGAAATTCTCAACACT
ATTTTGCATCTGTTTTCTTTTTCTAAGTCATGATAATATAGATGTTCTGGTCTATCATAAAAGA
ATGTTTATGTACATTTCAGTCATTCGGTATGTGGCTTTGTAAATTAAAGTATAGGCAAAACATT
TGTGTTATACATGATATATAATTTCATTTTGTAAATGTTGATTGCACATGTGGTCACATTATTG
TTGAGACTGCTTTTATGTGACCTGTAGTCTCCCACAGAACCTAAAGTAATAAGCTGGCTTTTCT
GTGATAGCCACGTTTGCGTATTTCTTTCCCTATTTCCCTTGCCTGCTAATGTTGAACAGCATGA
ACTTGCTTTCTGATGCTGTTTTAGACTGTCCCTGTTGTATCTCAATAATATCTTTGTTTTCCTT
CAGCCTTTATTACTATAATTGTTCATTCTACATGAAAGCTAGGAAACTGAAATTAGAAGAGCAC
TTATCTGCTACTTGCCAGTTTTGCGTGAGTGTGTTATATGTATGTGTCAATTTCCCTTTAAAAT
AACTATTTATTTTAAAATAACTATTGGCAATAAGGAAACTGTTCAAAGTAGAGGCAGATCTTGA
TAGAAAGATGTTAATCACAGGGTTGTTTATAATAGCAATATACATACACATTTGGCTAGTACTA
GGTGAATAGGAAAATAAATCATGCTGTATGTATACAATAAGAGGTCAAGTTGCCAATAAATTAT
TACTGTTAATGTTCTGGGAAATGCTGAAACTATGCTAAGTGGGGGAGAGGGAAAGCAGGTATTG
CAGTTTTGTAGTGAAGATTGGGCTTTGGAGTCATATCTGAGATGTAAGTAGCAGCTTTTAAATT
CTAGCTATGACCCTGTGCAGATCACTTAACTTTTGAGTGTCAGGATGTTTGGAAGGACAAGACA
GGAAAGTGTTTTAATACAGGGTTCAGTATTTAGTAAGCCTTCAATAAGTGATATTACATACATG
TAATAAAAACTAAGCATTGAAAGGACTAGGAAAAATGCATCAAATGTTAGTTCTGCAGGTTATA
GAATTATACTTTTATGTAATTTTAAAATTTCAGTTATGAACATGTTTGTCCATTAACAAACTTA
TAATAGCTGAAAAACAGGGTTGTGAGAACAGCTTCAGTTAAAATTGTCCTGTCTAGTTTGAATA
TTTCAAGAACAGAAAGCCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGC
CCAGGCTGGAATGCAGTGGTACGCTCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAG
TTCTCTGCCCCACCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCACGCCCGGCTATTTT
TTTGTATTTTTAGTAGAGATGGGGCTTCACCATCTTGACCAGGCTGGTCTTTAACTCCTGATGG
TGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCTACCGTGCCTGGCCC
CCTTTTTTTTAATTACAGAGAAATAAGTTACACCTTAGTATCAGATATTAATTTTCTTCAGTGT
TCAGGCAATTAGTATTTAGAAAGCTCTTGTCATGAGATGGCTCTGGGATGTGATGATGATTGTT
GGGATTGAAAAAACGGTAGTATCATGGAGAGATCATAATAAATTCTTAGTATTAAAAGTGGTTT
TGCTTTCAGTTAGGGAGAAAAATTAGATTGTACTATTTTTCCTCTATGATTTCCTTCAGTTATC
TTCCAAATGTTGTTTTTTCCCCACAGCCCCCTTAACATTGTTCTCTATGCACTTCTCAATACAT
TTTCATTTGTTTCTCAAGCCTCTTTGTGGATGACTCCTAAATATAACTTCTTCCACTAGCTCTA
GATCCGTATTTCCAATAAAATCCCCTACCTGAATATTCAAGTTAAACATGTCCAGAATACTTAC
TGATTTTATTGTTAATAGCCACTATTCTGTTGTCTGGAATTAAAACCTGTATAACTAATTTGCA
TCCCTTTATCTTCTTAGTCAATAAAACCTACAATCCTCTTTCTAAAATGGTCATAGTATACAAC
CTCTACATTATCTTCACACCTCCTTAATTTAGATCTTTTGTTTCTCATTTGGATTATAATTGTT
TTCTCCTATGTGA

hide sequence

RefSeq Acc Id:

NM_182620 ⟹ NP_872426

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	59,109,857 - 59,155,186 (-)	NCBI
GRCh37	17	57,187,308 - 57,232,800 (-)	RGD
GRCh37	17	57,187,308 - 57,232,800 (-)	NCBI
Build 36	17	54,542,090 - 54,587,582 (-)	NCBI Archive
Celera	17	53,649,948 - 53,695,816 (-)	RGD
HuRef	17	52,547,893 - 52,593,823 (-)	RGD
CHM1_1	17	57,252,805 - 57,298,295 (-)	NCBI
T2T-CHM13v2.0	17	59,977,953 - 60,023,284 (-)	NCBI

Sequence:

show sequence

CTGCGGAATGTCAACTATTCAACATGGAGGCGGAGGTCGATAAGCTGGAACTGATGTTCCAGAA
AGCTGAGTCTGATCTGGATTACATTCAATACAGGCTGGAATATGAAATCAAGACTAATCATCCT
GATTCAGCAAGTGAGAAAAATCCAGTTACACTCTTAAAGGAATTGTCAGTGATAAAGTCTCGAT
ATCAAACTTTGTATGCCCGCTTTAAACCAGTTGCTGTTGAGCAGAAAGAGAGTAAGAGCCGCAT
TTGTGCTACTGTGAAAAAGACTATGAATATGATACAAAAACTACAGAAGCAAACAGACCTGGAG
CTGTCACCACTGACTAAAGAAGAGAAAACTGCGGCAGAGCAATTCAAATTTCACATGCCAGATT
TATGAAGAAATGGACTTGGAAAGGAAATTCTAACAGAGAAGAGCTTAATTCCGGAGAAATTTAG
GAAGATGTCTTGTTAACCCTTGATGTCTAGAGATTGGGGGCTGGTGAAGGGGGTTTGGCTTCAA
TGACTGGATAATGATATCTTTCATGAGAGAGATTATAAGAAGAAGGGCAGATAATATATGAATA
AAGTTCAGCCAAAAGGATCAAATGAGAATAAAACGATTTAAATATATGTACACACGCATGCACA
CACACACTTAGTCTTGTAATTTCAGGCCAGAAATTCTCAACACTATTTTGCATCTGTTTTCTTT
TTCTAAGTCATGATAATATAGATGTTCTGGTCTATCATAAAAGAATGTTTATGTACATTTCAGT
CATTCGGTATGTGGCTTTGTAAATTAAAGTATAGGCAAAACATTTGTGTTATACATGATATATA
ATTTCATTTTGTAAATGTTGATTGCACATGTGGTCACATTATTGTTGAGACTGCTTTTATGTGA
CCTGTAGTCTCCCACAGAACCTAAAGTAATAAGCTGGCTTTTCTGTGATAGCCACGTTTGCGTA
TTTCTTTCCCTATTTCCCTTGCCTGCTAATGTTGAACAGCATGAACTTGCTTTCTGATGCTGTT
TTAGACTGTCCCTGTTGTATCTCAATAATATCTTTGTTTTCCTTCAGCCTTTATTACTATAATT
GTTCATTCTACATGAAAGCTAGGAAACTGAAATTAGAAGAGCACTTATCTGCTACTTGCCAGTT
TTGCGTGAGTGTGTTATATGTATGTGTCAATTTCCCTTTAAAATAACTATTTATTTTAAAATAA
CTATTGGCAATAAGGAAACTGTTCAAAGTAGAGGCAGATCTTGATAGAAAGATGTTAATCACAG
GGTTGTTTATAATAGCAATATACATACACATTTGGCTAGTACTAGGTGAATAGGAAAATAAATC
ATGCTGTATGTATACAATAAGAGGTCAAGTTGCCAATAAATTATTACTGTTAATGTTCTGGGAA
ATGCTGAAACTATGCTAAGTGGGGGAGAGGGAAAGCAGGTATTGCAGTTTTGTAGTGAAGATTG
GGCTTTGGAGTCATATCTGAGATGTAAGTAGCAGCTTTTAAATTCTAGCTATGACCCTGTGCAG
ATCACTTAACTTTTGAGTGTCAGGATGTTTGGAAGGACAAGACAGGAAAGTGTTTTAATACAGG
GTTCAGTATTTAGTAAGCCTTCAATAAGTGATATTACATACATGTAATAAAAACTAAGCATTGA
AAGGACTAGGAAAAATGCATCAAATGTTAGTTCTGCAGGTTATAGAATTATACTTTTATGTAAT
TTTAAAATTTCAGTTATGAACATGTTTGTCCATTAACAAACTTATAATAGCTGAAAAACAGGGT
TGTGAGAACAGCTTCAGTTAAAATTGTCCTGTCTAGTTTGAATATTTCAAGAACAGAAAGCCTT
TTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAGGCTGGAATGCAGTGGT
ACGCTCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAGTTCTCTGCCCCACCCTCCCG
AGTAGCTGGGATTACAGGCGCCCGCCACCACGCCCGGCTATTTTTTTGTATTTTTAGTAGAGAT
GGGGCTTCACCATCTTGACCAGGCTGGTCTTTAACTCCTGATGGTGATCCACCCACCTCGGCCT
CCCAAAGTGCTGGGATTACAGGCATGAGCTACCGTGCCTGGCCCCCTTTTTTTTAATTACAGAG
AAATAAGTTACACCTTAGTATCAGATATTAATTTTCTTCAGTGTTCAGGCAATTAGTATTTAGA
AAGCTCTTGTCATGAGATGGCTCTGGGATGTGATGATGATTGTTGGGATTGAAAAAACGGTAGT
ATCATGGAGAGATCATAATAAATTCTTAGTATTAAAAGTGGTTTTGCTTTCAGTTAGGGAGAAA
AATTAGATTGTACTATTTTTCCTCTATGATTTCCTTCAGTTATCTTCCAAATGTTGTTTTTTCC
CCACAGCCCCCTTAACATTGTTCTCTATGCACTTCTCAATACATTTTCATTTGTTTCTCAAGCC
TCTTTGTGGATGACTCCTAAATATAACTTCTTCCACTAGCTCTAGATCCGTATTTCCAATAAAA
TCCCCTACCTGAATATTCAAGTTAAACATGTCCAGAATACTTACTGATTTTATTGTTAATAGCC
ACTATTCTGTTGTCTGGAATTAAAACCTGTATAACTAATTTGCATCCCTTTATCTTCTTAGTCA
ATAAAACCTACAATCCTCTTTCTAAAATGGTCATAGTATACAACCTCTACATTATCTTCACACC
TCCTTAATTTAGATCTTTTGTTTCTCATTTGGATTATAATTGTTTTCTCCTATGTGA

hide sequence

Protein Sequences


Protein RefSeqs	NP_001094065	(Get FASTA)	NCBI Sequence Viewer
	NP_001317328	(Get FASTA)	NCBI Sequence Viewer
	NP_872426	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH17873	(Get FASTA)	NCBI Sequence Viewer
	AAI06004	(Get FASTA)	NCBI Sequence Viewer
	ACN41865	(Get FASTA)	NCBI Sequence Viewer
	BAG51725	(Get FASTA)	NCBI Sequence Viewer
	EAW94420	(Get FASTA)	NCBI Sequence Viewer
	EAW94421	(Get FASTA)	NCBI Sequence Viewer
	EAW94422	(Get FASTA)	NCBI Sequence Viewer
	EAW94423	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000333433
	ENSP00000333433.7
	ENSP00000411231
	ENSP00000411231.2
	ENSP00000462197.1
	ENSP00000462220.1
	ENSP00000462574
	ENSP00000462574.1
	ENSP00000462918.1
	ENSP00000463167.1
	ENSP00000463315.1
	ENSP00000464558.1
GenBank Protein	Q8WVK7	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_872426 ⟸ NM_182620
- Peptide Label:	isoform 1
- UniProtKB:	B3KPL3 (UniProtKB/Swiss-Prot), A6NIL3 (UniProtKB/Swiss-Prot), E9PCB8 (UniProtKB/Swiss-Prot), Q8WVK7 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MEAEVDKLELMFQKAESDLDYIQYRLEYEIKTNHPDSASEKNPVTLLKELSVIKSRYQTLYARF KPVAVEQKESKSRICATVKKTMNMIQKLQKQTDLELSPLTKEEKTAAEQFKFHMPDL hide sequence

RefSeq Acc Id:	NP_001094065 ⟸ NM_001100595
- Peptide Label:	isoform 2
- UniProtKB:	J3QKN8 (UniProtKB/TrEMBL)
- Sequence:	show sequence MASEVGHNLESPETPGGGGWTRVEFPPPAPKGAATVWCLNRLGSRKLSLIWITFNTGWNMKSRL IILIQQVSCHH hide sequence

RefSeq Acc Id:	NP_001317328 ⟸ NM_001330399
- Peptide Label:	isoform 3
- UniProtKB:	J3KSP0 (UniProtKB/TrEMBL)
- Sequence:	show sequence MEAEVDKLELMFQKAESDLDYIQYRLEYEIKTNHPDSASEKNPVTLLKELSVIKSRYQTLYARF KPVAVEQKESKSRICATVKKTMNMIQKLQKQTDLEVMLSVDSCHH hide sequence

Ensembl Acc Id:

ENSP00000462197 ⟸ ENST00000580541

Ensembl Acc Id:

ENSP00000462220 ⟸ ENST00000581068

Ensembl Acc Id:

ENSP00000462574 ⟸ ENST00000583380

Ensembl Acc Id:

ENSP00000463167 ⟸ ENST00000583976

Ensembl Acc Id:

ENSP00000463315 ⟸ ENST00000584089

Ensembl Acc Id:

ENSP00000464558 ⟸ ENST00000578519

Ensembl Acc Id:

ENSP00000462918 ⟸ ENST00000578105

Ensembl Acc Id:

ENSP00000411231 ⟸ ENST00000437036

Ensembl Acc Id:

ENSP00000333433 ⟸ ENST00000330137

Protein Domains

Ska2 N-terminal

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q8WVK7-F1-model_v2	AlphaFold	Q8WVK7	1-121	view protein structure

Promoters

RGD ID:

6794468

Promoter ID:

HG_KWN:26712

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:

ENST00000262293, NM_001100595, NM_182620, UC002IXE.2, UC002IXG.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	17	54,586,681 - 54,588,252 (+)	MPROMDB

RGD ID:

7235829

Promoter ID:

EPDNEW_H23661

Type:

initiation region

Name:

SKA2_1

Description:

spindle and kinetochore associated complex subunit 2

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H23664

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	59,155,174 - 59,155,234	EPDNEW

RGD ID:

7235837

Promoter ID:

EPDNEW_H23664

Type:

initiation region

Name:

SKA2_2

Description:

spindle and kinetochore associated complex subunit 2

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H23661

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	59,155,561 - 59,155,621	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:28006	AgrOrtholog
COSMIC	SKA2	COSMIC
Ensembl Genes	ENSG00000182628	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000330137	ENTREZGENE
	ENST00000330137.12	UniProtKB/Swiss-Prot
	ENST00000437036	ENTREZGENE
	ENST00000437036.6	UniProtKB/Swiss-Prot
	ENST00000578105.1	UniProtKB/TrEMBL
	ENST00000578519.5	UniProtKB/TrEMBL
	ENST00000580541.1	UniProtKB/TrEMBL
	ENST00000581068.5	UniProtKB/TrEMBL
	ENST00000583380	ENTREZGENE
	ENST00000583380.5	UniProtKB/TrEMBL
	ENST00000583976.1	UniProtKB/TrEMBL
	ENST00000584089.1	UniProtKB/TrEMBL
Gene3D-CATH	6.10.250.1380	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000182628	GTEx
HGNC ID	HGNC:28006	ENTREZGENE
Human Proteome Map	SKA2	Human Proteome Map
InterPro	Ska2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Ska2_N	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:348235	UniProtKB/Swiss-Prot
NCBI Gene	348235	ENTREZGENE
OMIM	616674	OMIM
PANTHER	PTHR32017	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SPINDLE AND KINETOCHORE-ASSOCIATED PROTEIN 2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	SKA2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA165432792	PharmGKB
UniProt	A6NIL3	ENTREZGENE
	B3KPL3	ENTREZGENE
	E9PCB8	ENTREZGENE
	J3KRW9_HUMAN	UniProtKB/TrEMBL
	J3KRZ0_HUMAN	UniProtKB/TrEMBL
	J3KSP0	ENTREZGENE, UniProtKB/TrEMBL
	J3KTC5_HUMAN	UniProtKB/TrEMBL
	J3QKN8	ENTREZGENE, UniProtKB/TrEMBL
	J3QL03_HUMAN	UniProtKB/TrEMBL
	J3QS74_HUMAN	UniProtKB/TrEMBL
	Q8WVK7	ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary	A6NIL3	UniProtKB/Swiss-Prot
	B3KPL3	UniProtKB/Swiss-Prot
	E9PCB8	UniProtKB/Swiss-Prot

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)

Send us a Message

Imported Disease Annotations - ClinVar