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Gene: CSTF2T (cleavage stimulation factor subunit 2 tau variant) Homo sapiens

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Symbol:

CSTF2T

Name:

cleavage stimulation factor subunit 2 tau variant

RGD ID:

1320690

HGNC Page

HGNC:17086

Description:

Enables RNA binding activity. Predicted to be involved in mRNA 3'-end processing. Located in nucleoplasm.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

CF-1 64 kDa subunit tau; cleavage stimulation factor 64 kDa subunit tau; cleavage stimulation factor subunit 2 tau; cleavage stimulation factor subunit 2, tau; cleavage stimulation factor subunit 2, tau variant; cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau; cleavage stimulation factor, 3' pre-RNA, subunit 2, tau; cleavage stimulation factor, 3' pre-RNA, subunit 2, tau variant; CSTF 64 kDa subunit tau; CstF-64T; DKFZp434C1013; KIAA0689; tauCstF-64

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	10	51,695,486 - 51,699,595 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	10	51,695,486 - 51,699,595 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	10	53,455,246 - 53,459,355 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	10	53,125,252 - 53,129,361 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	10	53,125,251 - 53,129,361	NCBI
Celera	10	46,718,008 - 46,722,117 (-)	NCBI		Celera
Cytogenetic Map	10	q21.1	NCBI
HuRef	10	47,433,327 - 47,437,436 (-)	NCBI		HuRef
CHM1_1	10	53,737,028 - 53,741,141 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	10	52,544,505 - 52,548,614 (-)	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

Familial Thoracic Aortic Aneurysm 8 (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

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

1,2-dimethylhydrazine (ISO)

1,3-dinitrobenzene (ISO)

17alpha-ethynylestradiol (ISO)

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

3',5'-cyclic UMP (EXP)

aflatoxin B1 (ISO)

all-trans-retinoic acid (EXP)

amitrole (ISO)

bis(2-ethylhexyl) phthalate (ISO)

bisphenol A (ISO)

C60 fullerene (ISO)

cadmium atom (EXP)

cadmium dichloride (ISO)

copper(II) sulfate (EXP)

cyclosporin A (EXP)

DDE (EXP)

dorsomorphin (EXP)

doxorubicin (EXP)

enzyme inhibitor (EXP)

fipronil (ISO)

folic acid (ISO)

FR900359 (EXP)

gentamycin (ISO)

inulin (ISO)

iron atom (EXP)

iron(0) (EXP)

ivermectin (EXP)

manganese atom (EXP)

manganese(0) (EXP)

manganese(II) chloride (EXP)

methapyrilene (ISO)

methotrexate (ISO)

methylmercury chloride (EXP)

nitrates (ISO)

ozone (EXP)

paracetamol (EXP,ISO)

perfluorooctane-1-sulfonic acid (ISO)

phenylmercury acetate (EXP)

pirinixic acid (ISO)

SB 431542 (EXP)

silicon dioxide (EXP)

sodium arsenite (EXP)

sunitinib (EXP)

temozolomide (EXP)

thioacetamide (ISO)

thiram (EXP)

topotecan (EXP)

trichloroethene (ISO)

trichostatin A (EXP)

triphenyl phosphate (EXP)

troglitazone (ISO)

trovafloxacin (ISO)

urethane (EXP)

valproic acid (EXP)

vitamin D (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

mRNA 3'-end processing (IEA)

mRNA processing (IEA)

Cellular Component

intracellular membrane-bounded organelle (IDA)

mRNA cleavage and polyadenylation specificity factor complex (IBA)

nucleoplasm (IDA,TAS)

nucleus (IEA)

Molecular Function

mRNA binding (IBA)

nucleic acid binding (IEA)

protein binding (IPI)

RNA binding (HDA,IEA)

Molecular Pathway Annotations Click to see Annotation Detail View

3'-end pre-mRNA processing pathway (TAS)

mRNA decay pathway (IEA)

RNA polymerase II transcription termination pathway (TAS)

References

References - curated

#	Reference Title	Reference Citation
1.	Pre-mRNA 3'-end processing complex assembly and function.	Chan S, etal., Wiley Interdiscip Rev RNA. 2011 May-Jun;2(3):321-35. doi: 10.1002/wrna.54. Epub 2010 Oct 18.
2.	Means to an end: mechanisms of alternative polyadenylation of messenger RNA precursors.	Gruber AR, etal., Wiley Interdiscip Rev RNA. 2014 Mar-Apr;5(2):183-96. doi: 10.1002/wrna.1206. Epub 2013 Nov 14.
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

Additional References at PubMed

PMID:7590244	PMID:8125298	PMID:8889548	PMID:9734811	PMID:11113135	PMID:11230166	PMID:11256614	PMID:12408968	PMID:12477932	PMID:12773396	PMID:14749727	PMID:15302935
PMID:15489334	PMID:15767428	PMID:16189514	PMID:16385451	PMID:16713569	PMID:19779565	PMID:21516116	PMID:21873635	PMID:22658674	PMID:22681889	PMID:22939629	PMID:24149845
PMID:24453475	PMID:24999758	PMID:25338677	PMID:25342443	PMID:25416956	PMID:25900982	PMID:26344197	PMID:26496610	PMID:27609421	PMID:28225217	PMID:28334977	PMID:28514442
PMID:28533407	PMID:29395067	PMID:29478914	PMID:29507755	PMID:30196744	PMID:30884312	PMID:31091453	PMID:31527615	PMID:32296183	PMID:32416067	PMID:33277362	PMID:33637726
PMID:33961781	PMID:34079125	PMID:34189442	PMID:34709266	PMID:34709727	PMID:35271311	PMID:35944360	PMID:35973513	PMID:35987950	PMID:36215168	PMID:36652389	PMID:36736099
PMID:37267103	PMID:37788672	PMID:37827155	PMID:38280479	PMID:38334954	PMID:38697112

Genomics

Comparative Map Data

CSTF2T
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	10	51,695,486 - 51,699,595 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	10	51,695,486 - 51,699,595 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	10	53,455,246 - 53,459,355 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	10	53,125,252 - 53,129,361 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	10	53,125,251 - 53,129,361	NCBI
Celera	10	46,718,008 - 46,722,117 (-)	NCBI		Celera
Cytogenetic Map	10	q21.1	NCBI
HuRef	10	47,433,327 - 47,437,436 (-)	NCBI		HuRef
CHM1_1	10	53,737,028 - 53,741,141 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	10	52,544,505 - 52,548,614 (-)	NCBI		T2T-CHM13v2.0

Cstf2t
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	19	31,060,241 - 31,063,992 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	19	31,060,237 - 31,064,469 (+)	Ensembl		GRCm39 Ensembl
GRCm38	19	31,082,841 - 31,086,592 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	19	31,082,837 - 31,087,069 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	19	31,157,331 - 31,161,082 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	19	31,149,001 - 31,152,589 (+)	NCBI		MGSCv36	mm8
Celera	19	31,867,444 - 31,871,195 (+)	NCBI		Celera
Cytogenetic Map	19	C1	NCBI
cM Map	19	25.94	NCBI

Cstf2t
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	1	238,366,042 - 238,369,608 (+)	NCBI		GRCr8
mRatBN7.2	1	228,952,617 - 228,956,183 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	1	228,952,504 - 228,955,873 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	1	237,310,067 - 237,313,633 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	1	244,239,783 - 244,243,349 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	1	237,077,535 - 237,081,100 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	1	249,574,954 - 249,578,520 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	1	249,574,954 - 249,578,520 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	1	256,813,751 - 256,817,317 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	1	235,060,489 - 235,064,055 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	1	235,224,192 - 235,226,470 (+)	NCBI
Celera	1	226,077,478 - 226,081,044 (+)	NCBI		Celera
Cytogenetic Map	1	q52	NCBI

Cstf2t
(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_004955425	6,832,580 - 6,834,499 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955425	6,830,775 - 6,834,799 (-)	NCBI	ChiLan1.0	ChiLan1.0

CSTF2T
(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	8	64,004,122 - 64,015,913 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	10	64,007,666 - 64,012,290 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	10	48,342,491 - 48,346,810 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	10	50,477,193 - 50,481,591 (-)	NCBI	panpan1.1	PanPan1.1	panPan2

CSTF2T
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Dog10K_Boxer_Tasha	26	36,151,251 - 36,153,709 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	26	37,797,337 - 37,799,769 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	26	37,797,408 - 37,799,309 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	26	35,699,493 - 35,701,917 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	26	35,288,227 - 35,290,664 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	26	36,528,531 - 36,530,957 (+)	NCBI		UU_Cfam_GSD_1.0

Cstf2t
(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_024407213	75,816,561 - 75,820,484 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936787	838,485 - 840,353 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936787	838,153 - 842,118 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

CSTF2T
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	14	98,105,772 - 98,110,358 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	14	98,104,957 - 98,109,479 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	14	106,806,097 - 106,809,854 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

Cstf2t
(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_004624791	11,925,197 - 11,927,188 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624791	11,924,945 - 11,929,106 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in CSTF2T
57 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 10q11.21-21.2(chr10:42335305-60284876)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052506]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052506]\|See cases [RCV000052506]	Chr10:42335305..60284876 [GRCh38] Chr10:42830753..62044634 [GRCh37] Chr10:42150759..61714640 [NCBI36] Chr10:10q11.21-21.2	pathogenic
GRCh38/hg38 10q11.21-21.1(chr10:42884294-52265317)x3	copy number gain	See cases [RCV000134381]	Chr10:42884294..52265317 [GRCh38] Chr10:43379742..54025077 [GRCh37] Chr10:42699748..53695083 [NCBI36] Chr10:10q11.21-21.1	pathogenic
GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	copy number gain	See cases [RCV000134848]	Chr10:42685306..73715908 [GRCh38] Chr10:43180754..75475666 [GRCh37] Chr10:42500760..75145672 [NCBI36] Chr10:10q11.21-22.2	pathogenic
GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	copy number gain	See cases [RCV000138007]	Chr10:50729367..87147204 [GRCh38] Chr10:52489127..88906961 [GRCh37] Chr10:52159133..88896941 [NCBI36] Chr10:10q11.23-23.2	pathogenic
GRCh38/hg38 10q11.23-21.1(chr10:50967523-53709183)x1	copy number loss	See cases [RCV000137735]	Chr10:50967523..53709183 [GRCh38] Chr10:52727283..55468943 [GRCh37] Chr10:52397289..55138949 [NCBI36] Chr10:10q11.23-21.1	uncertain significance
GRCh38/hg38 10q11.21-21.3(chr10:42112187-67400675)x3	copy number gain	See cases [RCV000142967]	Chr10:42112187..67400675 [GRCh38] Chr10:42607635..69160433 [GRCh37] Chr10:41927641..68830439 [NCBI36] Chr10:10q11.21-21.3	pathogenic
NM_015235.3(CSTF2T):c.1714C>G (p.Gln572Glu)	single nucleotide variant	not specified [RCV004296232]	Chr10:51697836 [GRCh38] Chr10:53457596 [GRCh37] Chr10:10q21.1	uncertain significance
NC_000010.10:g.43611191_61663279inv	inversion	Pediatric metastatic thyroid tumour [RCV000585841]	Chr10:43611191..61663279 [GRCh37] Chr10:10q11.21-21.2	likely pathogenic
GRCh37/hg19 10q11.23-21.1(chr10:52752503-57406199)x3	copy number gain	See cases [RCV000449275]	Chr10:52752503..57406199 [GRCh37] Chr10:10q11.23-21.1	uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	copy number gain	See cases [RCV000448750]	Chr10:93297..135378918 [GRCh37] Chr10:10p15.3-q26.3	pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	copy number gain	See cases [RCV000511389]	Chr10:100027..135427143 [GRCh37] Chr10:10p15.3-q26.3	pathogenic\|uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	copy number gain	See cases [RCV000510861]	Chr10:100027..135427143 [GRCh37] Chr10:10p15.3-q26.3	pathogenic
NM_015235.3(CSTF2T):c.1648G>C (p.Gly550Arg)	single nucleotide variant	not specified [RCV004329386]	Chr10:51697902 [GRCh38] Chr10:53457662 [GRCh37] Chr10:10q21.1	uncertain significance
NM_015235.3(CSTF2T):c.1822C>A (p.Gln608Lys)	single nucleotide variant	not specified [RCV004320922]	Chr10:51697728 [GRCh38] Chr10:53457488 [GRCh37] Chr10:10q21.1	uncertain significance
NM_015235.3(CSTF2T):c.1237A>G (p.Arg413Gly)	single nucleotide variant	not specified [RCV004320073]	Chr10:51698313 [GRCh38] Chr10:53458073 [GRCh37] Chr10:10q21.1	uncertain significance
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	copy number loss	Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438]	Chr10:42347406..135534747 [GRCh37] Chr10:10q11.21-26.3	drug response
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3	copy number gain	not provided [RCV000749464]	Chr10:73232..135524321 [GRCh37] Chr10:10p15.3-q26.3	pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3	copy number gain	not provided [RCV000749465]	Chr10:98087..135477883 [GRCh37] Chr10:10p15.3-q26.3	pathogenic
GRCh37/hg19 10q11.22-21.1(chr10:49390457-60061643)x1	copy number loss	not provided [RCV000762699]	Chr10:49390457..60061643 [GRCh37] Chr10:10q11.22-21.1	likely pathogenic
GRCh37/hg19 10q11.23-21.3(chr10:50250603-69256083)x1	copy number loss	not provided [RCV001006319]	Chr10:50250603..69256083 [GRCh37] Chr10:10q11.23-21.3	pathogenic
NM_015235.3(CSTF2T):c.720_722del (p.Gln240del)	deletion	not provided [RCV000956824]	Chr10:51698828..51698830 [GRCh38] Chr10:53458588..53458590 [GRCh37] Chr10:10q21.1	likely benign
GRCh37/hg19 10q21.1(chr10:53144955-53811118)x3	copy number gain	not provided [RCV001006322]	Chr10:53144955..53811118 [GRCh37] Chr10:10q21.1	uncertain significance
GRCh37/hg19 10q11.23-21.1(chr10:52752503-57406199)	copy number gain	not specified [RCV002052870]	Chr10:52752503..57406199 [GRCh37] Chr10:10q11.23-21.1	uncertain significance
GRCh37/hg19 10q21.1(chr10:53134455-53811118)	copy number gain	not specified [RCV002052871]	Chr10:53134455..53811118 [GRCh37] Chr10:10q21.1	uncertain significance
NC_000010.10:g.(?_53227463)_(53769653_?)dup	duplication	Aortic aneurysm, familial thoracic 8 [RCV003109471]	Chr10:53227463..53769653 [GRCh37] Chr10:10q21.1	uncertain significance
NM_015235.3(CSTF2T):c.742A>G (p.Lys248Glu)	single nucleotide variant	not specified [RCV004308254]	Chr10:51698808 [GRCh38] Chr10:53458568 [GRCh37] Chr10:10q21.1	uncertain significance
NM_015235.3(CSTF2T):c.805C>T (p.Pro269Ser)	single nucleotide variant	not specified [RCV004312788]	Chr10:51698745 [GRCh38] Chr10:53458505 [GRCh37] Chr10:10q21.1	uncertain significance
NM_015235.3(CSTF2T):c.977C>T (p.Pro326Leu)	single nucleotide variant	not specified [RCV004151931]	Chr10:51698573 [GRCh38] Chr10:53458333 [GRCh37] Chr10:10q21.1	uncertain significance
NM_015235.3(CSTF2T):c.689A>T (p.Asn230Ile)	single nucleotide variant	not specified [RCV004136813]	Chr10:51698861 [GRCh38] Chr10:53458621 [GRCh37] Chr10:10q21.1	uncertain significance
NM_015235.3(CSTF2T):c.1574G>C (p.Gly525Ala)	single nucleotide variant	not specified [RCV004140512]	Chr10:51697976 [GRCh38] Chr10:53457736 [GRCh37] Chr10:10q21.1	uncertain significance
NM_015235.3(CSTF2T):c.417G>C (p.Gln139His)	single nucleotide variant	not specified [RCV004233438]	Chr10:51699133 [GRCh38] Chr10:53458893 [GRCh37] Chr10:10q21.1	uncertain significance
NM_015235.3(CSTF2T):c.842C>T (p.Thr281Ile)	single nucleotide variant	not specified [RCV004209476]	Chr10:51698708 [GRCh38] Chr10:53458468 [GRCh37] Chr10:10q21.1	uncertain significance
NM_015235.3(CSTF2T):c.1250C>T (p.Ala417Val)	single nucleotide variant	not specified [RCV004213236]	Chr10:51698300 [GRCh38] Chr10:53458060 [GRCh37] Chr10:10q21.1	uncertain significance
NM_015235.3(CSTF2T):c.904C>T (p.Arg302Trp)	single nucleotide variant	not specified [RCV004228495]	Chr10:51698646 [GRCh38] Chr10:53458406 [GRCh37] Chr10:10q21.1	uncertain significance
NM_015235.3(CSTF2T):c.1474C>T (p.Pro492Ser)	single nucleotide variant	not specified [RCV004142958]	Chr10:51698076 [GRCh38] Chr10:53457836 [GRCh37] Chr10:10q21.1	uncertain significance
NM_015235.3(CSTF2T):c.1243T>C (p.Ser415Pro)	single nucleotide variant	not specified [RCV004178667]	Chr10:51698307 [GRCh38] Chr10:53458067 [GRCh37] Chr10:10q21.1	uncertain significance
NM_015235.3(CSTF2T):c.1393C>G (p.Pro465Ala)	single nucleotide variant	not specified [RCV004131791]	Chr10:51698157 [GRCh38] Chr10:53457917 [GRCh37] Chr10:10q21.1	uncertain significance
NM_015235.3(CSTF2T):c.1520G>T (p.Gly507Val)	single nucleotide variant	not specified [RCV004077018]	Chr10:51698030 [GRCh38] Chr10:53457790 [GRCh37] Chr10:10q21.1	uncertain significance
NM_015235.3(CSTF2T):c.842C>G (p.Thr281Ser)	single nucleotide variant	not specified [RCV004257365]	Chr10:51698708 [GRCh38] Chr10:53458468 [GRCh37] Chr10:10q21.1	uncertain significance
NM_015235.3(CSTF2T):c.1234G>A (p.Gly412Ser)	single nucleotide variant	not specified [RCV004275889]	Chr10:51698316 [GRCh38] Chr10:53458076 [GRCh37] Chr10:10q21.1	likely benign
NM_015235.3(CSTF2T):c.1528G>C (p.Gly510Arg)	single nucleotide variant	not specified [RCV004272321]	Chr10:51698022 [GRCh38] Chr10:53457782 [GRCh37] Chr10:10q21.1	uncertain significance
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	copy number gain	Distal trisomy 10q [RCV003319593]	Chr10:11138692..135427143 [GRCh37] Chr10:10p14-q26.3	pathogenic
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	copy number loss	Distal 10q deletion syndrome [RCV003319583]	Chr10:12829206..135427143 [GRCh37] Chr10:10p13-q26.3	pathogenic
NM_015235.3(CSTF2T):c.1117C>A (p.Arg373Ser)	single nucleotide variant	not specified [RCV004351814]	Chr10:51698433 [GRCh38] Chr10:53458193 [GRCh37] Chr10:10q21.1	uncertain significance
GRCh37/hg19 10q21.1(chr10:53289428-53507319)x1	copy number loss	not provided [RCV003483093]	Chr10:53289428..53507319 [GRCh37] Chr10:10q21.1	uncertain significance
GRCh37/hg19 10q11.23-22.1(chr10:51735638-70791246)x1	copy number loss	not provided [RCV003483092]	Chr10:51735638..70791246 [GRCh37] Chr10:10q11.23-22.1	pathogenic
GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	copy number gain	not provided [RCV003484798]	Chr10:42709645..100834951 [GRCh37] Chr10:10q11.21-24.2	pathogenic
NM_006258.4(PRKG1):c.593-105681C>T	single nucleotide variant	not provided [RCV003417384]	Chr10:51698904 [GRCh38] Chr10:53458664 [GRCh37] Chr10:10q21.1	benign
NM_015235.3(CSTF2T):c.844C>T (p.Pro282Ser)	single nucleotide variant	not specified [RCV004372772]	Chr10:51698706 [GRCh38] Chr10:53458466 [GRCh37] Chr10:10q21.1	uncertain significance
NM_015235.3(CSTF2T):c.1716G>C (p.Gln572His)	single nucleotide variant	not specified [RCV004372762]	Chr10:51697834 [GRCh38] Chr10:53457594 [GRCh37] Chr10:10q21.1	uncertain significance
NM_015235.3(CSTF2T):c.1624G>A (p.Gly542Ser)	single nucleotide variant	not specified [RCV004372760]	Chr10:51697926 [GRCh38] Chr10:53457686 [GRCh37] Chr10:10q21.1	uncertain significance
NM_015235.3(CSTF2T):c.1457G>A (p.Gly486Asp)	single nucleotide variant	not specified [RCV004372758]	Chr10:51698093 [GRCh38] Chr10:53457853 [GRCh37] Chr10:10q21.1	uncertain significance
NM_015235.3(CSTF2T):c.1123C>T (p.Pro375Ser)	single nucleotide variant	not specified [RCV004372754]	Chr10:51698427 [GRCh38] Chr10:53458187 [GRCh37] Chr10:10q21.1	uncertain significance
NM_015235.3(CSTF2T):c.940A>G (p.Ile314Val)	single nucleotide variant	not specified [RCV004372773]	Chr10:51698610 [GRCh38] Chr10:53458370 [GRCh37] Chr10:10q21.1	uncertain significance
NM_015235.3(CSTF2T):c.1779G>T (p.Met593Ile)	single nucleotide variant	not specified [RCV004372766]	Chr10:51697771 [GRCh38] Chr10:53457531 [GRCh37] Chr10:10q21.1	uncertain significance
NM_015235.3(CSTF2T):c.1721A>G (p.Gln574Arg)	single nucleotide variant	not specified [RCV004372765]	Chr10:51697829 [GRCh38] Chr10:53457589 [GRCh37] Chr10:10q21.1	uncertain significance
NM_015235.3(CSTF2T):c.595C>T (p.Pro199Ser)	single nucleotide variant	not specified [RCV004372771]	Chr10:51698955 [GRCh38] Chr10:53458715 [GRCh37] Chr10:10q21.1	uncertain significance
NM_015235.3(CSTF2T):c.242A>C (p.Glu81Ala)	single nucleotide variant	not specified [RCV004372767]	Chr10:51699308 [GRCh38] Chr10:53459068 [GRCh37] Chr10:10q21.1	uncertain significance
NM_015235.3(CSTF2T):c.1717G>C (p.Asp573His)	single nucleotide variant	not specified [RCV004372764]	Chr10:51697833 [GRCh38] Chr10:53457593 [GRCh37] Chr10:10q21.1	uncertain significance
NM_015235.3(CSTF2T):c.1343T>G (p.Met448Arg)	single nucleotide variant	not specified [RCV004372757]	Chr10:51698207 [GRCh38] Chr10:53457967 [GRCh37] Chr10:10q21.1	uncertain significance
NM_015235.3(CSTF2T):c.1322G>C (p.Cys441Ser)	single nucleotide variant	not specified [RCV004372756]	Chr10:51698228 [GRCh38] Chr10:53457988 [GRCh37] Chr10:10q21.1	uncertain significance
NM_015235.3(CSTF2T):c.1291C>T (p.Arg431Cys)	single nucleotide variant	not specified [RCV004372755]	Chr10:51698259 [GRCh38] Chr10:53458019 [GRCh37] Chr10:10q21.1	uncertain significance
NM_015235.3(CSTF2T):c.434A>G (p.Lys145Arg)	single nucleotide variant	not specified [RCV004372770]	Chr10:51699116 [GRCh38] Chr10:53458876 [GRCh37] Chr10:10q21.1	uncertain significance
NM_015235.3(CSTF2T):c.365A>G (p.Glu122Gly)	single nucleotide variant	not specified [RCV004372768]	Chr10:51699185 [GRCh38] Chr10:53458945 [GRCh37] Chr10:10q21.1	uncertain significance
NM_015235.3(CSTF2T):c.1640G>T (p.Gly547Val)	single nucleotide variant	not specified [RCV004372761]	Chr10:51697910 [GRCh38] Chr10:53457670 [GRCh37] Chr10:10q21.1	uncertain significance
NM_015235.3(CSTF2T):c.1622G>T (p.Gly541Val)	single nucleotide variant	not specified [RCV004372759]	Chr10:51697928 [GRCh38] Chr10:53457688 [GRCh37] Chr10:10q21.1	likely benign
NM_015235.3(CSTF2T):c.425A>C (p.Glu142Ala)	single nucleotide variant	not specified [RCV004372769]	Chr10:51699125 [GRCh38] Chr10:53458885 [GRCh37] Chr10:10q21.1	uncertain significance
NM_015235.3(CSTF2T):c.649C>T (p.Pro217Ser)	single nucleotide variant	not specified [RCV004615756]	Chr10:51698901 [GRCh38] Chr10:53458661 [GRCh37] Chr10:10q21.1	uncertain significance
NM_015235.3(CSTF2T):c.889C>T (p.Pro297Ser)	single nucleotide variant	not specified [RCV004615757]	Chr10:51698661 [GRCh38] Chr10:53458421 [GRCh37] Chr10:10q21.1	uncertain significance
NM_015235.3(CSTF2T):c.1036A>C (p.Thr346Pro)	single nucleotide variant	not specified [RCV004615761]	Chr10:51698514 [GRCh38] Chr10:53458274 [GRCh37] Chr10:10q21.1	uncertain significance
NM_015235.3(CSTF2T):c.529G>A (p.Val177Ile)	single nucleotide variant	not specified [RCV004615758]	Chr10:51699021 [GRCh38] Chr10:53458781 [GRCh37] Chr10:10q21.1	uncertain significance
NM_015235.3(CSTF2T):c.341C>T (p.Pro114Leu)	single nucleotide variant	not specified [RCV004615760]	Chr10:51699209 [GRCh38] Chr10:53458969 [GRCh37] Chr10:10q21.1	uncertain significance
NM_015235.3(CSTF2T):c.682C>A (p.Leu228Met)	single nucleotide variant	not specified [RCV004615755]	Chr10:51698868 [GRCh38] Chr10:53458628 [GRCh37] Chr10:10q21.1	uncertain significance
NM_015235.3(CSTF2T):c.376G>A (p.Glu126Lys)	single nucleotide variant	not specified [RCV004615759]	Chr10:51699174 [GRCh38] Chr10:53458934 [GRCh37] Chr10:10q21.1	uncertain significance
GRCh37/hg19 10q11.23-21.2(chr10:51642201-62725062)x1	copy number loss	not provided [RCV004819829]	Chr10:51642201..62725062 [GRCh37] Chr10:10q11.23-21.2	uncertain significance
NM_015235.3(CSTF2T):c.1777A>G (p.Met593Val)	single nucleotide variant	not specified [RCV004908419]	Chr10:51697773 [GRCh38] Chr10:53457533 [GRCh37] Chr10:10q21.1	uncertain significance
NM_015235.3(CSTF2T):c.1189G>A (p.Gly397Ser)	single nucleotide variant	not specified [RCV004908420]	Chr10:51698361 [GRCh38] Chr10:53458121 [GRCh37] Chr10:10q21.1	uncertain significance
NM_015235.3(CSTF2T):c.1150C>A (p.Pro384Thr)	single nucleotide variant	not specified [RCV004908421]	Chr10:51698400 [GRCh38] Chr10:53458160 [GRCh37] Chr10:10q21.1	uncertain significance
NM_015235.3(CSTF2T):c.721C>G (p.His241Asp)	single nucleotide variant	not specified [RCV004908422]	Chr10:51698829 [GRCh38] Chr10:53458589 [GRCh37] Chr10:10q21.1	uncertain significance
NM_015235.3(CSTF2T):c.862C>A (p.Pro288Thr)	single nucleotide variant	not specified [RCV004908423]	Chr10:51698688 [GRCh38] Chr10:53458448 [GRCh37] Chr10:10q21.1	uncertain significance
NM_015235.3(CSTF2T):c.1084C>A (p.Pro362Thr)	single nucleotide variant	not specified [RCV004908424]	Chr10:51698466 [GRCh38] Chr10:53458226 [GRCh37] Chr10:10q21.1	uncertain significance
NM_015235.3(CSTF2T):c.1261C>G (p.Arg421Gly)	single nucleotide variant	not specified [RCV004908425]	Chr10:51698289 [GRCh38] Chr10:53458049 [GRCh37] Chr10:10q21.1	uncertain significance
NM_015235.3(CSTF2T):c.1432C>T (p.Pro478Ser)	single nucleotide variant	not specified [RCV004908426]	Chr10:51698118 [GRCh38] Chr10:53457878 [GRCh37] Chr10:10q21.1	uncertain significance

miRNA Target Status (No longer updated)

Predicted Target Of

	Summary Value
Count of predictions:	687
Count of miRNA genes:	446
Interacting mature miRNAs:	484
Transcripts:	ENST00000331173
Prediction methods:	Miranda, 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
407163542	GWAS812518_H	non-dense area measurement, mammographic density measurement QTL GWAS812518 (human)		0.000003	non-dense area measurement, mammographic density measurement		10	51695802	51695803	Human

Markers in Region

WI-15606

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	10	53,455,264 - 53,455,394	UniSTS	GRCh37
Build 36	10	53,125,270 - 53,125,400	RGD	NCBI36
Celera	10	46,718,026 - 46,718,156	RGD
Cytogenetic Map	10	q11	UniSTS
Cytogenetic Map	10	q11.2	UniSTS
HuRef	10	47,433,345 - 47,433,475	UniSTS
GeneMap99-GB4 RH Map	10	322.72	UniSTS
Whitehead-RH Map	10	401.1	UniSTS

SHGC-81463

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	10	53,455,174 - 53,455,444	UniSTS	GRCh37
Build 36	10	53,125,180 - 53,125,450	RGD	NCBI36
Celera	10	46,717,936 - 46,718,206	RGD
Cytogenetic Map	10	q11.2	UniSTS
Cytogenetic Map	10	q11	UniSTS
HuRef	10	47,433,255 - 47,433,525	UniSTS
TNG Radiation Hybrid Map	10	23564.0	UniSTS
TNG Radiation Hybrid Map	10	23589.0	UniSTS

D10S248E

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	10	53,456,374 - 53,456,489	UniSTS	GRCh37
Build 36	10	53,126,380 - 53,126,495	RGD	NCBI36
Celera	10	46,719,136 - 46,719,251	RGD
Cytogenetic Map	10	q11	UniSTS
HuRef	10	47,434,455 - 47,434,570	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	2438	2788	2253	4974	1726	2350	6	624	1951	465	2270	7304	6472	53	3734	1	850	1743	1616	175	1

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_029982	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_015235	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB014589	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC068062	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK222574	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK314318	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL136747	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY130299	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC017185	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC028239	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BI962669	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BU743103	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX455090	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471083	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068268	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KT584418	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000331173 ⟹ ENSP00000332444

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	10	51,695,486 - 51,699,595 (-)	Ensembl

RefSeq Acc Id:

NM_015235 ⟹ NP_056050

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	10	51,695,486 - 51,699,595 (-)	NCBI
GRCh37	10	53,455,246 - 53,459,355 (-)	RGD
Build 36	10	53,125,252 - 53,129,361 (-)	NCBI Archive
Celera	10	46,718,008 - 46,722,117 (-)	RGD
HuRef	10	47,433,327 - 47,437,436 (-)	RGD
CHM1_1	10	53,737,028 - 53,741,141 (-)	NCBI
T2T-CHM13v2.0	10	52,544,505 - 52,548,614 (-)	NCBI

Sequence:

show sequence

AGACGCCTCGAAGAATCCGCTATCGGCTGTCTGCACAACCGGAATCATGTCGAGTTTGGCGGTG
AGAGACCCGGCAATGGATCGATCACTGCGTTCCGTGTTCGTGGGGAACATTCCATATGAGGCAA
CTGAGGAGCAGTTAAAGGACATTTTCTCGGAGGTTGGTTCTGTTGTCAGTTTCCGGCTGGTATA
CGATAGAGAGACGGGAAAACCCAAGGGCTATGGCTTCTGCGAATACCAAGACCAGGAGACCGCG
CTTAGTGCCATGCGGAACCTCAATGGGCGGGAGTTCAGTGGGAGAGCGCTTCGGGTGGACAATG
CTGCCAGTGAAAAGAATAAGGAGGAGTTAAAGAGCCTTGGGCCTGCAGCGCCCATTATTGACTC
ACCCTATGGGGATCCCATCGATCCAGAAGATGCCCCTGAATCGATTACCAGAGCAGTAGCCAGT
CTCCCCCCGGAGCAGATGTTTGAGCTGATGAAGCAGATGAAGCTCTGTGTCCAAAACAGCCACC
AGGAAGCTCGAAACATGTTACTTCAAAATCCACAACTGGCTTATGCACTGTTGCAGGCACAAGT
AGTGATGAGAATCATGGATCCAGAGATTGCTCTGAAAATTCTGCATCGGAAGATACATGTCACA
CCACTGATCCCAGGCAAATCTCAGTCTGTGTCTGTCTCTGGCCCTGGCCCTGGCCCTGGCCCTG
GGCTCTGCCCAGGACCTAATGTTCTGCTGAACCAGCAGAATCCTCCAGCTCCTCAGCCTCAGCA
TTTGGCTAGAAGACCTGTGAAGGACATTCCTCCTCTGATGCAGACTCCTATCCAGGGTGGAATT
CCAGCTCCAGGGCCAATACCAGCTGCAGTTCCCGGAGCTGGTCCTGGTTCCTTAACTCCTGGAG
GAGCAATGCAGCCCCAACTTGGAATGCCAGGGGTTGGCCCAGTGCCTTTAGAGCGGGGACAAGT
GCAGATGTCAGATCCTAGAGCTCCTATACCTCGCGGACCCGTGACTCCTGGTGGTCTGCCTCCT
CGAGGACTGTTAGGAGATGCTCCAAATGACCCACGTGGAGGGACTTTGCTTTCAGTCACTGGAG
AAGTGGAGCCCAGAGGTTATCTGGGTCCACCCCATCAGGGTCCCCCCATGCATCATGCCTCTGG
TCATGACACTCGTGGCCCTTCCTCACATGAGATGAGGGGAGGGCCATTAGGAGATCCCAGACTG
CTAATTGGAGAGCCCAGAGGCCCCATGATAGATCAAAGGGGTCTACCTATGGATGGTAGAGGTG
GTAGAGATTCTCGAGCGATGGAGACTCGTGCCATGGAAACTGAGGTCTTAGAGACACGTGTAAT
GGAGAGGAGAGGAATGGAGACCTGTGCGATGGAAACCAGAGGGATGGAAGCAAGGGGCATGGAT
GCAAGAGGATTGGAGATGAGGGGCCCTGTCCCCAGTTCAAGAGGCCCTATGACTGGTGGAATTC
AGGGTCCTGGTCCCATTAATATAGGGGCAGGTGGCCCTCCTCAGGGACCCAGACAGGTCCCAGG
CATTTCAGGGGTGGGGAATCCTGGAGCTGGTATGCAGGGTACAGGCATACAAGGAACAGGCATG
CAGGGAGCAGGCATACAAGGAGGAGGGATGCAGGGGGCAGGCATACAAGGAGTCAGTATACAAG
GAGGAGGTATACAAGGAGGAGGTATACAGGGGGCAAGCAAGCAAGGTGGAAGCCAGCCTAGCAG
TTTTAGTCCTGGGCAGAGCCAGGTCACTCCACAGGATCAGGAGAAGGCAGCTTTGATCATGCAG
GTTCTTCAACTGACTGCAGATCAGATTGCCATGCTGCCCCCTGAGCAAAGGCAGAGTATCCTGA
TTTTAAAGGAACAAATCCAGAAATCCACTGGAGCGTCTTGAAAGGTTTTAGAAAATATTTGGCT
GTAGTCTCAAATTTTATTCTGTAGCATGGAGAATGGGTGCAAAAAGCTGACTTCTGTATCCCCA
CACTTGGATTAGGGTTTCCCTCCTCCTAGAACCTAATCTTATTTTTTGTTCTTTTTCTTTCTTT
CTGTTTTCCTTTTTTTTTTAATTGAGGGTGGGGGGAGGAGGGAGTGCGTCTGTTCACTTTAAGT
TACTTTAAAATAACTCTGAACATGATTATATTATGCCAAATAAGATTACAAAGAATAAGCAGCA
ATATTGAAGCATCTACAGTATGTTAACTACATTTTTTAAATGTCGAGTAAAACTTCGTGAAAAC
TGCTCATAAAGACTAAAAGTTGACCTGTTAAAACGTTAATGTACTAAGATAGTTTTAAGATTTT
TGGTTGTATAACAAAATAAAAGTTTACCCAAAAGTATAAGATACATTTTTTGGTAAACCATTTA
AAATACAAAATCCTATTTTGGAGGCAATAGGATAAGCATTGTCTTAGTGTTTTAGAATTATTTT
TGAAACAGAGTTAACAGGATAAGGTTACACTTGTATTAGAATTGTTTTTTTCTAAAGTTATGTT
ACCTGAAAAATCAAGGAGTGCACCTGATTTACTGTTGCTTCATTTATCCCATCCTTCAGAGACC
AGCAAGGTTCTGCCAGGCCCCAAGCATCTGAGCATGATGATTTTGCTGTGACAATTCTAAGATC
AACCAGGTTACTTAAGTCCGCTCTGATGAAACCCAGTCTCTCAATACCTTCCTATTTCTCAATA
GTCTTTAAGCCCTAAATCTGAGTCAGTAATTCTCTAAAAATCCTTCCCAAAAATCAGTGTCTAG
GGACTGGTTGATCTAGATGAGTTATAAATGGTATTTGACTTTTCATAAGTAGTGGAAGGTTTCA
CTAAGTAAAGATCTGAGTTTCTTGGTATCTGACGTTTGTATACAGATGGTGTCCATTTGCTCAA
CCAGACAGGAGTTAACTTGTATTAGAATTGTTTTTTCTAAAGTTATGTTACCTGAGAAATTAAG
GACTGCACCTGGTTTAATGTTGCTTCACTTATCCCACCCTACAGAGACCAGCAAGGTTCTGCCA
GGCCTCGAGCATCCAAGCATGATTTTGCTGTGACAAATCTAAAATCAACCAGGCTACTTAAGTC
TGCTCTGATGAAACCCAATAATCTCTCAATACCTTCCTATTTCTCAATAGTCTTTAAACCCTAA
ATCTGAGTCAGTAATTCTCTTACATCCTTCCCAAAAATCAGTGTCTAGGGACTAGTTGATCTGG
ATGAGTTATACATGATATTTGACTTTTCATAAGTAGTGGAAGGTTTCACTAAGTAAAACTCTCA
GTTTCTTGGTATCTGGCTTTCTTATACAGATGGTGTCCATTTGCTCCACCAGACAGGAGTTAAA
AACCTTTAAAGAGCATTTAACATGCCTTTTAGTTTTCTTATTTCATAATCTACTTTTCTATCAT
TAATCATCTTACCAGGAATAATCAAGGCCCAGGTAGGTAGAAGTTTTTATATAGCCTGAATACT
CACTTGACTTACTGCTCATTTTACTTTTTGCATGGAATACAGCCATTTAGTCCTAATATACATA
CCAATGAGACAATTAAAAATTGGTTGGAAGATGGAGCTTATCACATTGTGCTACTACGACTTTA
TTTTTTCTTGAAAATAAAGCCTTGAGGATGTGAACATAAATGTTGGTATCATAAAACAAGTAGT
AATAAAAGCATAAATTATCAAATATCAGGTGATCTTACTATGGAGAAGAAAAACCAATATCTAG
TTACAGATGAAAAAATGTTTAATACAAAGAGCTGAAAATGTAGAAATTGAGTTATCTTCCCTTT
GCAAAATTTTTACACTTTAAATTAGTAATTCTTTGTTTGCAAGGTTTTCATCCCTATGCTGTTG
TTTTCTACTACCTGTTTTACTCTTGTTCATACTGCTACTTTCCCATGTTTCCTATATGCCTCCC
CTATATTGGAGAGGATAACTCGCGTTTACATATGTGATAGTTATGCTTAATACTAATTCACAGA
GTTGGCTCGATCATTTTGAGATTCTAGTTGCTTTATCTCAAAGCTTTCACTGAAGGGCTGTAAC
TGAAAATTATTAAATGTTAGTCTTTAGTCAAATCTCTGCATTGTTTCATGCAGAAAATAAAGAT
ACAATTAAGGCTGA

hide sequence

Protein Sequences


Protein RefSeqs	NP_056050	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH28239	(Get FASTA)	NCBI Sequence Viewer
	AAN05429	(Get FASTA)	NCBI Sequence Viewer
	BAA31664	(Get FASTA)	NCBI Sequence Viewer
	BAD96294	(Get FASTA)	NCBI Sequence Viewer
	BAG36966	(Get FASTA)	NCBI Sequence Viewer
	CAB66681	(Get FASTA)	NCBI Sequence Viewer
	EAW54142	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000332444
	ENSP00000332444.4
GenBank Protein	Q9H0L4	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_056050 ⟸ NM_015235

- UniProtKB:

Q7LGE8 (UniProtKB/Swiss-Prot), Q53HK6 (UniProtKB/Swiss-Prot), O75174 (UniProtKB/Swiss-Prot), B2RAR9 (UniProtKB/Swiss-Prot), Q8N6T1 (UniProtKB/Swiss-Prot), Q9H0L4 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MSSLAVRDPAMDRSLRSVFVGNIPYEATEEQLKDIFSEVGSVVSFRLVYDRETGKPKGYGFCEY
QDQETALSAMRNLNGREFSGRALRVDNAASEKNKEELKSLGPAAPIIDSPYGDPIDPEDAPESI
TRAVASLPPEQMFELMKQMKLCVQNSHQEARNMLLQNPQLAYALLQAQVVMRIMDPEIALKILH
RKIHVTPLIPGKSQSVSVSGPGPGPGPGLCPGPNVLLNQQNPPAPQPQHLARRPVKDIPPLMQT
PIQGGIPAPGPIPAAVPGAGPGSLTPGGAMQPQLGMPGVGPVPLERGQVQMSDPRAPIPRGPVT
PGGLPPRGLLGDAPNDPRGGTLLSVTGEVEPRGYLGPPHQGPPMHHASGHDTRGPSSHEMRGGP
LGDPRLLIGEPRGPMIDQRGLPMDGRGGRDSRAMETRAMETEVLETRVMERRGMETCAMETRGM
EARGMDARGLEMRGPVPSSRGPMTGGIQGPGPINIGAGGPPQGPRQVPGISGVGNPGAGMQGTG
IQGTGMQGAGIQGGGMQGAGIQGVSIQGGGIQGGGIQGASKQGGSQPSSFSPGQSQVTPQDQEK
AALIMQVLQLTADQIAMLPPEQRQSILILKEQIQKSTGAS

hide sequence

Ensembl Acc Id:

ENSP00000332444 ⟸ ENST00000331173

Protein Domains

RRM

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9H0L4-F1-model_v2	AlphaFold	Q9H0L4	1-616	view protein structure

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:17086	AgrOrtholog
COSMIC	CSTF2T	COSMIC
Ensembl Genes	ENSG00000177613	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000331173	ENTREZGENE
	ENST00000331173.6	UniProtKB/Swiss-Prot
Gene3D-CATH	1.10.20.70	UniProtKB/Swiss-Prot
	1.25.40.630	UniProtKB/Swiss-Prot
	3.30.70.330	UniProtKB/Swiss-Prot
GTEx	ENSG00000177613	GTEx
HGNC ID	HGNC:17086	ENTREZGENE
Human Proteome Map	CSTF2T	Human Proteome Map
InterPro	CSTF2_C_sf	UniProtKB/Swiss-Prot
	CSTF2_hinge	UniProtKB/Swiss-Prot
	CSTF_C	UniProtKB/Swiss-Prot
	Nucleotide-bd_a/b_plait_sf	UniProtKB/Swiss-Prot
	RBD_domain_sf	UniProtKB/Swiss-Prot
	RRM_dom	UniProtKB/Swiss-Prot
KEGG Report	hsa:23283	UniProtKB/Swiss-Prot
NCBI Gene	23283	ENTREZGENE
OMIM	611968	OMIM
PANTHER	CLEAVAGE STIMULATION FACTOR SUBUNIT 2	UniProtKB/Swiss-Prot
	CLEAVAGE STIMULATION FACTOR SUBUNIT 2 TAU VARIANT	UniProtKB/Swiss-Prot
Pfam	CSTF2_hinge	UniProtKB/Swiss-Prot
	CSTF_C	UniProtKB/Swiss-Prot
	RRM_1	UniProtKB/Swiss-Prot
PharmGKB	PA134933809	PharmGKB
PROSITE	RRM	UniProtKB/Swiss-Prot
SMART	RRM	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF54928	UniProtKB/Swiss-Prot
UniProt	B2RAR9	ENTREZGENE
	CSTFT_HUMAN	UniProtKB/Swiss-Prot
	O75174	ENTREZGENE
	Q53HK6	ENTREZGENE
	Q7LGE8	ENTREZGENE
	Q8N6T1	ENTREZGENE
	Q9H0L4	ENTREZGENE
UniProt Secondary	B2RAR9	UniProtKB/Swiss-Prot
	O75174	UniProtKB/Swiss-Prot
	Q53HK6	UniProtKB/Swiss-Prot
	Q7LGE8	UniProtKB/Swiss-Prot
	Q8N6T1	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Name	Description	Reference	Status
2016-08-16	CSTF2T	cleavage stimulation factor subunit 2 tau variant	cleavage stimulation factor subunit 2, tau variant	Symbol and/or name change	5135510	APPROVED
2016-04-12	CSTF2T	cleavage stimulation factor subunit 2, tau variant	cleavage stimulation factor, 3' pre-RNA, subunit 2, tau variant	Symbol and/or name change	5135510	APPROVED
2015-11-17	CSTF2T	cleavage stimulation factor, 3' pre-RNA, subunit 2, tau variant	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	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)

Imported Disease Annotations - ClinVar

RGD Manual Annotations

Imported Annotations - KEGG (archival)

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Imported Disease Annotations - ClinVar

RGD Manual Annotations

Imported Annotations - KEGG (archival)