RTF2 (replication termination factor 2)

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Gene: RTF2 (replication termination factor 2) Homo sapiens

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Symbol:

RTF2

Name:

replication termination factor 2

RGD ID:

1322335

HGNC Page

HGNC:15890

Description:

Enables DNA binding activity. Involved in cellular response to hydroxyurea and regulation of DNA stability. Located in replication fork.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

C20orf43; CDAO5; HSPC164; hypothetical protein LOC51507; protein RTF2 homolog; replication termination factor 2 domain containing 1; replication termination factor 2 domain-containing protein 1; RTFDC1; SHUJUN-3; UPF0549 protein C20orf43

RGD Orthologs

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Rtf2 (replication termination factor 2)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Rtfdc1 (replication termination factor 2 domain containing 1)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Rtf2 (replication termination factor 2)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	RTF2 (replication termination factor 2)	NCBI	Ortholog
Canis lupus familiaris (dog):	RTF2 (replication termination factor 2)	HGNC	EggNOG, Ensembl, HomoloGene, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Rtf2 (replication termination factor 2)	NCBI	Ortholog
Sus scrofa (pig):	RTF2 (replication termination factor 2)	HGNC	EggNOG, Ensembl, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	RTF2 (replication termination factor 2)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Rtfdc1 (replication termination factor 2 domain containing 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Rtf2 (replication termination factor 2)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Drosophila melanogaster (fruit fly):	CG6443	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	rtf2	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Caenorhabditis elegans (roundworm):	tads-1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	rtf2.S	Alliance	DIOPT (Xenbase)
Xenopus tropicalis (tropical clawed frog):	rtf2	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB)
Xenopus laevis (African clawed frog):	rtf2.L	Alliance	DIOPT (Xenbase)

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	20	56,468,627 - 56,519,449 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	20	56,468,585 - 56,519,449 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	20	55,043,683 - 55,094,505 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	20	54,477,092 - 54,527,345 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	20	54,477,091 - 54,527,343	NCBI
Celera	20	51,784,073 - 51,834,372 (+)	NCBI		Celera
Cytogenetic Map	20	q13.31	NCBI
HuRef	20	51,828,356 - 51,878,628 (+)	NCBI		HuRef
CHM1_1	20	54,944,770 - 54,995,053 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	20	58,246,116 - 58,296,943 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

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

1,2-dichloroethane (ISO)

1,2-dimethylhydrazine (ISO)

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

aflatoxin B1 (EXP)

arsenite(3-) (EXP)

benzo[a]pyrene (EXP)

beta-lapachone (EXP)

bisphenol A (EXP,ISO)

clofibrate (ISO)

copper(II) sulfate (EXP)

cyclosporin A (EXP)

diuron (EXP)

doxorubicin (EXP)

enzyme inhibitor (EXP)

folic acid (ISO)

ivermectin (EXP)

methidathion (ISO)

N-nitrosodiethylamine (ISO)

perfluorohexanesulfonic acid (EXP)

perfluorooctane-1-sulfonic acid (EXP,ISO)

perfluorooctanoic acid (EXP)

piperonyl butoxide (ISO)

resveratrol (EXP)

sodium arsenite (EXP)

triphenyl phosphate (EXP)

valproic acid (EXP)

vinclozolin (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

cellular response to hydroxyurea (IMP)

mitotic DNA replication termination (IEA)

regulation of DNA stability (IMP)

Cellular Component

chromosome (IEA)

nucleus (IBA,IEA)

replication fork (IDA)

Molecular Function

DNA binding (IDA)

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

Additional References at PubMed

PMID:8125298	PMID:10931946	PMID:11042152	PMID:11780052	PMID:12477932	PMID:14702039	PMID:15342556	PMID:15489334	PMID:15635413	PMID:21873635	PMID:21900206	PMID:23824909
PMID:25130324	PMID:26186194	PMID:26344197	PMID:26496610	PMID:26972000	PMID:28298427	PMID:28514442	PMID:28515276	PMID:28611215	PMID:29290612	PMID:29467282	PMID:29509190
PMID:29568061	PMID:29643511	PMID:29955894	PMID:30196744	PMID:32416067	PMID:32839439	PMID:32878895	PMID:33545068	PMID:33742100	PMID:33961781	PMID:34189442	PMID:34373451
PMID:34597346	PMID:34795231	PMID:35256949	PMID:35831314	PMID:35941108	PMID:35944360	PMID:36215168	PMID:36373674	PMID:38113892	PMID:38803224

Genomics

Comparative Map Data

RTF2
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	20	56,468,627 - 56,519,449 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	20	56,468,585 - 56,519,449 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	20	55,043,683 - 55,094,505 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	20	54,477,092 - 54,527,345 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	20	54,477,091 - 54,527,343	NCBI
Celera	20	51,784,073 - 51,834,372 (+)	NCBI		Celera
Cytogenetic Map	20	q13.31	NCBI
HuRef	20	51,828,356 - 51,878,628 (+)	NCBI		HuRef
CHM1_1	20	54,944,770 - 54,995,053 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	20	58,246,116 - 58,296,943 (+)	NCBI		T2T-CHM13v2.0

Rtf2
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	2	172,282,498 - 172,311,819 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	2	172,282,476 - 172,311,828 (+)	Ensembl		GRCm39 Ensembl
GRCm38	2	172,440,578 - 172,469,899 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	2	172,440,556 - 172,469,908 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	2	172,266,078 - 172,295,399 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	2	172,131,783 - 172,161,104 (+)	NCBI		MGSCv36	mm8
Celera	2	178,401,755 - 178,431,767 (+)	NCBI		Celera
Cytogenetic Map	2	H3	NCBI
cM Map	2	94.86	NCBI

Rtfdc1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	3	181,624,798 - 181,656,104 (+)	NCBI		GRCr8
mRatBN7.2	3	161,208,005 - 161,237,687 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	3	161,208,049 - 161,237,687 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	3	165,018,080 - 165,047,658 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	3	173,517,102 - 173,546,680 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	3	171,258,921 - 171,288,499 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	3	170,443,895 - 170,473,456 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	3	170,443,855 - 170,473,456 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	3	176,519,321 - 176,548,882 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	3	163,350,088 - 163,379,729 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	3	163,256,141 - 163,285,754 (+)	NCBI
Celera	3	160,408,098 - 160,437,168 (+)	NCBI		Celera
Cytogenetic Map	3	q42	NCBI

Rtf2
(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_004955445	2,726,358 - 2,765,104 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955445	2,729,658 - 2,764,447 (-)	NCBI	ChiLan1.0	ChiLan1.0

RTF2
(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	21	62,213,096 - 62,277,430 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	20	62,206,098 - 62,270,586 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	20	52,806,960 - 52,874,887 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	20	54,094,102 - 54,147,129 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	20	54,094,102 - 54,147,129 (+)	Ensembl	panpan1.1		panPan2

RTF2
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	24	41,665,259 - 41,706,348 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	24	41,665,294 - 41,706,348 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	24	40,912,799 - 40,953,883 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	24	42,428,031 - 42,469,108 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	24	42,375,975 - 42,532,550 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	24	41,615,531 - 41,656,601 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	24	41,754,883 - 41,795,702 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	24	42,413,052 - 42,453,911 (+)	NCBI		UU_Cfam_GSD_1.0

Rtf2
(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_024408640	183,671,436 - 183,716,870 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936875	369,065 - 414,053 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936875	369,065 - 414,522 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

RTF2
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	17	57,040,967 - 57,084,668 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	17	57,040,967 - 57,084,677 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	17	64,152,512 - 64,196,307 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

RTF2
(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	2	7,601,916 - 7,653,374 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	2	7,602,531 - 7,653,328 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666050	55,675,275 - 55,727,353 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Variants

Variants in RTF2
26 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	copy number gain	See cases [RCV000053035]	Chr20:44787704..64277321 [GRCh38] Chr20:43416345..62908674 [GRCh37] Chr20:42849759..62379118 [NCBI36] Chr20:20q13.12-13.33	pathogenic
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	copy number gain	See cases [RCV000135859]	Chr20:99557..64277321 [GRCh38] Chr20:80198..62908674 [GRCh37] Chr20:28198..62379118 [NCBI36] Chr20:20p13-q13.33	pathogenic
GRCh38/hg38 20q13.2-13.33(chr20:55630597-60941207)x3	copy number gain	See cases [RCV000135622]	Chr20:55630597..60941207 [GRCh38] Chr20:54220678..59516263 [GRCh37] Chr20:53639062..58949658 [NCBI36] Chr20:20q13.2-13.33	likely pathogenic
GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3	copy number gain	See cases [RCV000138035]	Chr20:56198032..64277321 [GRCh38] Chr20:54773088..62908674 [GRCh37] Chr20:54206495..62379118 [NCBI36] Chr20:20q13.2-13.33	pathogenic
GRCh38/hg38 20q13.2-13.32(chr20:54594888-58190583)x1	copy number loss	See cases [RCV000141033]	Chr20:54594888..58190583 [GRCh38] Chr20:53211427..56765639 [GRCh37] Chr20:52644834..56199045 [NCBI36] Chr20:20q13.2-13.32	pathogenic
GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3	copy number gain	See cases [RCV000143584]	Chr20:53236165..64284202 [GRCh38] Chr20:51852704..62915555 [GRCh37] Chr20:51286111..62385999 [NCBI36] Chr20:20q13.2-13.33	likely pathogenic
GRCh37/hg19 20q13.2-13.33(chr20:51542616-62915555)x3	copy number gain	See cases [RCV000511980]	Chr20:51542616..62915555 [GRCh37] Chr20:20q13.2-13.33	likely pathogenic
GRCh37/hg19 20q13.2-13.31(chr20:54541125-55162415)x3	copy number gain	See cases [RCV000511263]	Chr20:54541125..55162415 [GRCh37] Chr20:20q13.2-13.31	uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	copy number gain	See cases [RCV000510832]	Chr20:61569..62915555 [GRCh37] Chr20:20p13-q13.33	pathogenic
NM_016407.5(RTF2):c.206A>C (p.Lys69Thr)	single nucleotide variant	not specified [RCV004314329]	Chr20:56474719 [GRCh38] Chr20:55049775 [GRCh37] Chr20:20q13.31	uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	copy number gain	See cases [RCV000512450]	Chr20:61569..62915555 [GRCh37] Chr20:20p13-q13.33	pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3	copy number gain	not provided [RCV000741058]	Chr20:63244..62948788 [GRCh37] Chr20:20p13-q13.33	pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3	copy number gain	not provided [RCV000741059]	Chr20:63244..62961294 [GRCh37] Chr20:20p13-q13.33	pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3	copy number gain	not provided [RCV000741057]	Chr20:63244..62912463 [GRCh37] Chr20:20p13-q13.33	pathogenic
GRCh37/hg19 20q13.2-13.33(chr20:54143747-62194881)	copy number gain	not provided [RCV000767669]	Chr20:54143747..62194881 [GRCh37] Chr20:20q13.2-13.33	pathogenic
GRCh37/hg19 20q13.2-13.33(chr20:51799648-62916626)x3	copy number gain	not provided [RCV001537917]	Chr20:51799648..62916626 [GRCh37] Chr20:20q13.2-13.33	pathogenic
NC_000020.10:g.(?_54823900)_(57899514_?)del	deletion	not provided [RCV001900543]	Chr20:54823900..57899514 [GRCh37] Chr20:20q13.2-13.32	uncertain significance
NM_016407.5(RTF2):c.329A>G (p.Lys110Arg)	single nucleotide variant	not specified [RCV004294221]	Chr20:56477055 [GRCh38] Chr20:55052111 [GRCh37] Chr20:20q13.31	uncertain significance
GRCh37/hg19 20q13.2-13.31(chr20:52517925-55402822)x3	copy number gain	not provided [RCV002474915]	Chr20:52517925..55402822 [GRCh37] Chr20:20q13.2-13.31	uncertain significance
NM_016407.5(RTF2):c.404G>T (p.Cys135Phe)	single nucleotide variant	not specified [RCV004282646]	Chr20:56484116 [GRCh38] Chr20:55059172 [GRCh37] Chr20:20q13.31	uncertain significance
NM_016407.5(RTF2):c.308A>G (p.Lys103Arg)	single nucleotide variant	not specified [RCV004278170]	Chr20:56477034 [GRCh38] Chr20:55052090 [GRCh37] Chr20:20q13.31	uncertain significance
NM_080615.1:c.17C>A	single nucleotide variant	not specified [RCV004072144]	Chr20:56497592 [GRCh38] Chr20:20q13.31	uncertain significance
GRCh37/hg19 20q13.2-13.33(chr20:52773668-62965020)x3	copy number gain	See cases [RCV003329549]	Chr20:52773668..62965020 [GRCh37] Chr20:20q13.2-13.33	uncertain significance
NM_016407.5(RTF2):c.814A>G (p.Ser272Gly)	single nucleotide variant	not specified [RCV004342677]	Chr20:56518158 [GRCh38] Chr20:55093214 [GRCh37] Chr20:20q13.31	uncertain significance
NM_016407.5(RTF2):c.367G>A (p.Val123Ile)	single nucleotide variant	not specified [RCV004454694]	Chr20:56477093 [GRCh38] Chr20:55052149 [GRCh37] Chr20:20q13.31	uncertain significance
NM_016407.5(RTF2):c.389G>T (p.Gly130Val)	single nucleotide variant	not specified [RCV004454695]	Chr20:56477115 [GRCh38] Chr20:55052171 [GRCh37] Chr20:20q13.31	uncertain significance
NM_016407.5(RTF2):c.726G>C (p.Leu242Phe)	single nucleotide variant	not specified [RCV004454707]	Chr20:56517185 [GRCh38] Chr20:55092241 [GRCh37] Chr20:20q13.31	uncertain significance
NM_016407.5(RTF2):c.25C>A (p.Pro9Thr)	single nucleotide variant	not specified [RCV004454690]	Chr20:56468722 [GRCh38] Chr20:55043778 [GRCh37] Chr20:20q13.31	uncertain significance
NM_016407.5(RTF2):c.26C>T (p.Pro9Leu)	single nucleotide variant	not specified [RCV004454692]	Chr20:56468723 [GRCh38] Chr20:55043779 [GRCh37] Chr20:20q13.31	uncertain significance
NM_016407.5(RTF2):c.502G>A (p.Asp168Asn)	single nucleotide variant	not specified [RCV004454698]	Chr20:56513339 [GRCh38] Chr20:55088395 [GRCh37] Chr20:20q13.31	uncertain significance
NM_016407.5(RTF2):c.352C>T (p.Arg118Cys)	single nucleotide variant	not specified [RCV004454693]	Chr20:56477078 [GRCh38] Chr20:55052134 [GRCh37] Chr20:20q13.31	uncertain significance
NM_016407.5(RTF2):c.518A>G (p.Asn173Ser)	single nucleotide variant	not specified [RCV004454700]	Chr20:56513355 [GRCh38] Chr20:55088411 [GRCh37] Chr20:20q13.31	uncertain significance
NM_016407.5(RTF2):c.634G>T (p.Asp212Tyr)	single nucleotide variant	not specified [RCV004454703]	Chr20:56516977 [GRCh38] Chr20:55092033 [GRCh37] Chr20:20q13.31	uncertain significance
NM_016407.5(RTF2):c.642T>A (p.Ser214Arg)	single nucleotide variant	not specified [RCV004454704]	Chr20:56516985 [GRCh38] Chr20:55092041 [GRCh37] Chr20:20q13.31	uncertain significance
GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)	copy number gain	20q13.13qter duplication [RCV004555205]	Chr20:50805746..64334135 [GRCh38] Chr20:20q13.13-13.33	pathogenic
NM_016407.5(RTF2):c.214G>C (p.Glu72Gln)	single nucleotide variant	not specified [RCV004454689]	Chr20:56474727 [GRCh38] Chr20:55049783 [GRCh37] Chr20:20q13.31	uncertain significance
NM_016407.5(RTF2):c.419G>A (p.Cys140Tyr)	single nucleotide variant	not specified [RCV004454696]	Chr20:56484131 [GRCh38] Chr20:55059187 [GRCh37] Chr20:20q13.31	uncertain significance
NM_016407.5(RTF2):c.421G>A (p.Gly141Ser)	single nucleotide variant	not specified [RCV004454697]	Chr20:56484133 [GRCh38] Chr20:55059189 [GRCh37] Chr20:20q13.31	uncertain significance
NM_016407.5(RTF2):c.541G>A (p.Val181Met)	single nucleotide variant	not specified [RCV004454701]	Chr20:56513378 [GRCh38] Chr20:55088434 [GRCh37] Chr20:20q13.31	uncertain significance
NM_016407.5(RTF2):c.674C>T (p.Thr225Ile)	single nucleotide variant	not specified [RCV004454705]	Chr20:56517133 [GRCh38] Chr20:55092189 [GRCh37] Chr20:20q13.31	uncertain significance
NM_016407.5(RTF2):c.605C>T (p.Pro202Leu)	single nucleotide variant	not specified [RCV004454702]	Chr20:56516948 [GRCh38] Chr20:55092004 [GRCh37] Chr20:20q13.31	uncertain significance
NM_016407.5(RTF2):c.67A>G (p.Lys23Glu)	single nucleotide variant	not specified [RCV004454706]	Chr20:56468764 [GRCh38] Chr20:55043820 [GRCh37] Chr20:20q13.31	uncertain significance
NM_016407.5(RTF2):c.73G>A (p.Asp25Asn)	single nucleotide variant	not specified [RCV004454708]	Chr20:56473304 [GRCh38] Chr20:55048360 [GRCh37] Chr20:20q13.31	uncertain significance
NM_016407.5(RTF2):c.801G>T (p.Arg267Ser)	single nucleotide variant	not specified [RCV004454709]	Chr20:56518145 [GRCh38] Chr20:55093201 [GRCh37] Chr20:20q13.31	uncertain significance
NM_016407.5(RTF2):c.808G>A (p.Ala270Thr)	single nucleotide variant	not specified [RCV004454710]	Chr20:56518152 [GRCh38] Chr20:55093208 [GRCh37] Chr20:20q13.31	uncertain significance
NM_016407.5(RTF2):c.553A>G (p.Arg185Gly)	single nucleotide variant	not specified [RCV004661075]	Chr20:56513390 [GRCh38] Chr20:55088446 [GRCh37] Chr20:20q13.31	uncertain significance
NM_016407.5(RTF2):c.884C>T (p.Ser295Phe)	single nucleotide variant	not specified [RCV004661074]	Chr20:56518228 [GRCh38] Chr20:55093284 [GRCh37] Chr20:20q13.31	uncertain significance
NM_016407.5(RTF2):c.889C>T (p.His297Tyr)	single nucleotide variant	not specified [RCV004674329]	Chr20:56518233 [GRCh38] Chr20:55093289 [GRCh37] Chr20:20q13.31	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	2337
Count of miRNA genes:	885
Interacting mature miRNAs:	1060
Transcripts:	ENST00000023939, ENST00000357348, ENST00000395881, ENST00000435342, ENST00000449062, ENST00000466260, ENST00000477485, ENST00000477573, ENST00000484084, ENST00000487211
Prediction methods:	Microtar, Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

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

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

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
2292864	PRSTS43_H	Prostate tumor susceptibility QTL 43 (human)	0.62	0.05	Prostate tumor susceptibility		20	47303039	64444167	Human
1300007	BP29_H	Blood pressure QTL 29 (human)			Blood pressure	hypertension susceptibility	20	36536005	62536005	Human
407231857	GWAS880833_H	bone density QTL GWAS880833 (human)		3e-17	bone mineral mass (VT:0005007)	bone mineral density (CMO:0001226)	20	56497937	56497938	Human
406964950	GWAS613926_H	severe acute respiratory syndrome, COVID-19 QTL GWAS613926 (human)		4e-16	severe acute respiratory syndrome, COVID-19		20	56492425	56492426	Human
407330296	GWAS979272_H	Alzheimer disease, polygenic risk score QTL GWAS979272 (human)		0.0000003	Alzheimer disease, polygenic risk score		20	56513348	56513349	Human

Markers in Region

RH17873

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	20	55,093,364 - 55,093,484	UniSTS	GRCh37
Build 36	20	54,526,771 - 54,526,891	RGD	NCBI36
Celera	20	51,833,794 - 51,833,914	RGD
Cytogenetic Map	20	q13.2	UniSTS
Cytogenetic Map	20	q13.31	UniSTS
HuRef	20	51,878,050 - 51,878,170	UniSTS
GeneMap99-GB4 RH Map	20	335.45	UniSTS
NCBI RH Map	20	583.1	UniSTS

A009W14

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	20	55,093,402 - 55,093,619	UniSTS	GRCh37
Build 36	20	54,526,809 - 54,527,026	RGD	NCBI36
Celera	20	51,833,832 - 51,834,049	RGD
Cytogenetic Map	20	q13.2	UniSTS
Cytogenetic Map	20	q13.31	UniSTS
HuRef	20	51,878,088 - 51,878,305	UniSTS
GeneMap99-GB4 RH Map	20	335.45	UniSTS
NCBI RH Map	20	583.1	UniSTS

G32909

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	20	55,093,402 - 55,093,619	UniSTS	GRCh37
Celera	20	51,833,832 - 51,834,049	UniSTS
Cytogenetic Map	20	q13.31	UniSTS
Cytogenetic Map	20	q13.2	UniSTS
HuRef	20	51,878,088 - 51,878,305	UniSTS

Expression

RNA-SEQ Expression

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

Download All Expressed Objects for this Gene

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

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001283035	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001283036	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001283037	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_016407	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017027872	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047440189	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054323482	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054323483	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AA814039	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF117231	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF161513	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF161518	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF212244	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AI352436	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK000481	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK000586	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK026118	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK225135	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK293662	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK302029	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK314563	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL109806	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY320413	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC001536	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC002769	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC003359	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BG468509	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BP307634	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BU537939	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068258	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CR983692	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DC397043	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000023939 ⟹ ENSP00000023939

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	56,468,585 - 56,518,886 (+)	Ensembl

Ensembl Acc Id:

ENST00000357348 ⟹ ENSP00000349906

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	56,468,627 - 56,519,449 (+)	Ensembl

Ensembl Acc Id:

ENST00000395881 ⟹ ENSP00000379220

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	56,468,614 - 56,518,887 (+)	Ensembl

Ensembl Acc Id:

ENST00000449062 ⟹ ENSP00000400322

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	56,468,678 - 56,517,201 (+)	Ensembl

Ensembl Acc Id:

ENST00000466260

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	56,468,686 - 56,477,032 (+)	Ensembl

Ensembl Acc Id:

ENST00000477485

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	56,513,391 - 56,518,245 (+)	Ensembl

Ensembl Acc Id:

ENST00000477573

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	56,515,694 - 56,518,887 (+)	Ensembl

Ensembl Acc Id:

ENST00000484084

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	56,468,658 - 56,473,360 (+)	Ensembl

Ensembl Acc Id:

ENST00000487211

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	56,468,679 - 56,474,759 (+)	Ensembl

RefSeq Acc Id:

NM_001283035 ⟹ NP_001269964

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	20	56,468,627 - 56,519,449 (+)	NCBI
HuRef	20	51,828,350 - 51,878,628 (+)	NCBI
CHM1_1	20	54,944,764 - 54,995,053 (+)	NCBI
T2T-CHM13v2.0	20	58,246,116 - 58,296,943 (+)	NCBI

Sequence:

show sequence

GCGGATTTCGCCGGAAATCCCGGAAGTGACAGCTTTGGGGGTTTGCTGCTGGCTCTGACTCCCG
TCCTGCGATGGGTTGCGACGGGGGAACAATCCCCAAGAGGCATGAACTGGTGAAGGGGCCGAAG
AAGGTTGAGAAGATTTGGCATTTGAAGAATGGGAAAGAGTGGTGCAGTCTACACAGTGAAGGAA
AAAACAAGAACGGGAAGGAGTGGGACATGGAATATGATGTCGACAAAGATGCTGAATTAGTGGC
CCAATGGAACTATTGTACTCTAAGTCAGGAAATATTAAGACGACCAATAGTTGCCTGTGAACTT
GGCAGACTTTATAACAAAGATGCCGTCATTGAATTTCTCTTGGACAAATCTGCAGAAAAGGCTC
TTGGGAAGGCAGCATCTCACATTAAAAGCATTAAGAATGTGACAGAGCTGAAGCTTTCTGATAA
TCCTGCCTGGGAAGGGGATAAAGGAAACACTAAAGGTGACAAGCACGATGACCTCCAGCGGGCG
CGTTTCATCTGCCCCGTTGTGGGCCTGGAGATGAACGGCCGACACAGGTTCTGCTTCCTTCGGT
GCTGCGGCTGTGTGTTTTCTGAGCGAGCCTTGAAAGAGATAAAAGCGGAAGTTTGCCACACGTG
TGGGGCTGCCTTCCAGGAGGATGATGTCATCATGCTCAATGGCACCAAGGAGGATGTGGACGTG
CTGAAGACAAGGATGGAGGAGAGAAGGCTGAGAGCGAAGCTGGAAAAGAAAACAAAGAAACCCA
AGGCAGCAGAGTCTGTTTCAAAACCAGATGTCAGTGAAGAAGCCCCAGGGCCATCAAAAGTTAA
GACAGGGAAGCCTGAAGAAGCCAGCCTTGATTCTAGAGAGAAGAAAACCAACTTGGCTCCCAAA
AGCACAGCAATGAATGAGAGCTCTTCTGGAAAAGCTGGGAAGCCTCCGTGTGGAGCCACAAAGA
GGTCCATCGCTGACAGTGAAGAATCGGAGGCCTACAAGTCCCTCTTTACCACTCACAGCTCCGC
CAAGCGCTCCAAGGAGGAGTCTGCCCACTGGGTCACCCACACGTCCTACTGCTTCTGAAGCCCG
CACTGCCACCGCTCCTGCCCCAGAAGGTTGTTTAGTTTCCACGTAGGCAGGTCGCTTTGTGCCT
CTGAGTGCGCTGCTGTGTGTTCTCTCTATAGTTCTGTGTCATAAAGCTGTCCTGGCCAGCCTTC
AAGCTGGTGTGGCCACTCTTGATGTGAGGCGTGTCGGTTCCAGGGGGGACATGGGAGGGGCTGC
ACAGTGGCCCGAGGTCATGCTTGCTTCCACCTGCAGGTGCATTTGGTCCTTTCCATGGCCAGGA
AGCCCTGTGGGCTGCACTTTTTATGCTTGCAGTAACAAGAGACTCCAGAGTCCTCACCGGTGCA
GAGTTGGCACATATTAATTAACTAAAATTCTAATGATCTTGCTACCAGCAATAAATCAAGTAGG
CCAAGTGAAACTGGGCTTTAAAAAGGATGGATTTCAAATACACTGTGCCCACTAGAAGCTTCGA
AGGGCCTCGTCCCTCTGCTACAGCCCTGGGAGGAGCCAGGATCCTTGTTGGTCTAGCTAAATAC
TGTTAGGGGAGTGTGCCCCATCTCATCATTTCGAAGATAGCAGAGTCATAGTTGGGCACCCAGT
GATTGGGTTCAAAAATAAAGCTGGTCTGCCTCTTCTCTCCTCTGTGTTTTTATCTTTTCTACCT
TCTGCTCATGCTTGGGTAAGAACATTGCAGCCGTTGCATTGGTGATTACAGGAGTCATTCCATG
AAGTCAGAAGAACCCACCCTTCTCTCCTCCAGCAGATGGTAAAGGGAGAATCGTACCCAAAAAG
AGGTGCATTTTATCTGCCTATAAGTTGTGTTGACGTCAATAGCTAGTGAAACTTCTCATGAGAC
TCCTAATGAAGAACCAAGAGCCACAGGCCTCTGCGTGGCTTTCTGCACACGGTGGTATGACTGA
GATAGTGACTGGTTCTCTATACAGACCCCGGGGCCCTGGGTTTCCTTCAGAAGCAGAAGGAGCT
GTGGGAGGTGAATGGTGGGAGGTGAACAGGCAGGTTCTGTGGGAGACACAGACACGTGGGCAGA
ACTCCAGGGAGAGGCCAGCAAGGGAGAACCATGTGTGGCCCTGCTTTTTCTCAAACCCTGTGTG
GTTCCCGGCTTCACAGTTGATGGGAAGGTTTGGCCCCAAGGATATTTTGACATTGTGAGTATAG
AGCATTTTAATAAAAATTAAGTGATG

hide sequence

RefSeq Acc Id:

NM_001283036 ⟹ NP_001269965

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	20	56,468,627 - 56,519,449 (+)	NCBI
HuRef	20	51,828,350 - 51,878,628 (+)	NCBI
CHM1_1	20	54,944,764 - 54,995,053 (+)	NCBI
T2T-CHM13v2.0	20	58,246,116 - 58,296,943 (+)	NCBI

Sequence:

show sequence

GCGGATTTCGCCGGAAATCCCGGAAGTGACAGCTTTGGGGGTTTGCTGCTGGCTCTGACTCCCG
TCCTGCGATGGGTTGCGACGGGGGAACAATCCCCAAGAGGCATGAACTGGTGAAGGGGCCGAAG
AAGGTTGAGAAGGTCGACAAAGATGCTGAATTAGTGGCCCAATGGAACTATTGTACTCTAAGTC
AGGAAATATTAAGACGACCAATAGTTGCCTGTGAACTTGGCAGACTTTATAACAAAGATGCCGT
CATTGAATTTCTCTTGGACAAATCTGCAGAAAAGGCTCTTGGGAAGGCAGCATCTCACATTAAA
AGCATTAAGAATGTGACAGAGCTGAAGCTTTCTGATAATCCTGCCTGGGAAGGGGATAAAGGAA
ACACTAAAGGTGACAAGCACGATGACCTCCAGCGGGCGCGTTTCATCTGCCCCGTTGTGGGCCT
GGAGATGAACGGCCGACACAGGTTCTGCTTCCTTCGGTGCTGCGGCTGTGTGTTTTCTGAGCGA
GCCTTGAAAGAGATAAAAGCGGAAGTTTGCCACACGTGTGGGGCTGCCTTCCAGGAGGATGATG
TCATCATGCTCAATGGCACCAAGGAGGATGTGGACGTGCTGAAGACAAGGATGGAGGAGAGAAG
GCTGAGAGCGAAGCTGGAAAAGAAAACAAAGAAACCCAAGGCAGCAGAGTCTGTTTCAAAACCA
GATGTCAGTGAAGCCCCAGGGCCATCAAAAGTTAAGACAGGGAAGCCTGAAGAAGCCAGCCTTG
ATTCTAGAGAGAAGAAAACCAACTTGGCTCCCAAAAGCACAGCAATGAATGAGAGCTCTTCTGG
AAAAGCTGGGAAGCCTCCGTGTGGAGCCACAAAGAGGTCCATCGCTGACAGTGAAGAATCGGAG
GCCTACAAGTCCCTCTTTACCACTCACAGCTCCGCCAAGCGCTCCAAGGAGGAGTCTGCCCACT
GGGTCACCCACACGTCCTACTGCTTCTGAAGCCCGCACTGCCACCGCTCCTGCCCCAGAAGGTT
GTTTAGTTTCCACGTAGGCAGGTCGCTTTGTGCCTCTGAGTGCGCTGCTGTGTGTTCTCTCTAT
AGTTCTGTGTCATAAAGCTGTCCTGGCCAGCCTTCAAGCTGGTGTGGCCACTCTTGATGTGAGG
CGTGTCGGTTCCAGGGGGGACATGGGAGGGGCTGCACAGTGGCCCGAGGTCATGCTTGCTTCCA
CCTGCAGGTGCATTTGGTCCTTTCCATGGCCAGGAAGCCCTGTGGGCTGCACTTTTTATGCTTG
CAGTAACAAGAGACTCCAGAGTCCTCACCGGTGCAGAGTTGGCACATATTAATTAACTAAAATT
CTAATGATCTTGCTACCAGCAATAAATCAAGTAGGCCAAGTGAAACTGGGCTTTAAAAAGGATG
GATTTCAAATACACTGTGCCCACTAGAAGCTTCGAAGGGCCTCGTCCCTCTGCTACAGCCCTGG
GAGGAGCCAGGATCCTTGTTGGTCTAGCTAAATACTGTTAGGGGAGTGTGCCCCATCTCATCAT
TTCGAAGATAGCAGAGTCATAGTTGGGCACCCAGTGATTGGGTTCAAAAATAAAGCTGGTCTGC
CTCTTCTCTCCTCTGTGTTTTTATCTTTTCTACCTTCTGCTCATGCTTGGGTAAGAACATTGCA
GCCGTTGCATTGGTGATTACAGGAGTCATTCCATGAAGTCAGAAGAACCCACCCTTCTCTCCTC
CAGCAGATGGTAAAGGGAGAATCGTACCCAAAAAGAGGTGCATTTTATCTGCCTATAAGTTGTG
TTGACGTCAATAGCTAGTGAAACTTCTCATGAGACTCCTAATGAAGAACCAAGAGCCACAGGCC
TCTGCGTGGCTTTCTGCACACGGTGGTATGACTGAGATAGTGACTGGTTCTCTATACAGACCCC
GGGGCCCTGGGTTTCCTTCAGAAGCAGAAGGAGCTGTGGGAGGTGAATGGTGGGAGGTGAACAG
GCAGGTTCTGTGGGAGACACAGACACGTGGGCAGAACTCCAGGGAGAGGCCAGCAAGGGAGAAC
CATGTGTGGCCCTGCTTTTTCTCAAACCCTGTGTGGTTCCCGGCTTCACAGTTGATGGGAAGGT
TTGGCCCCAAGGATATTTTGACATTGTGAGTATAGAGCATTTTAATAAAAATTAAGTGATG

hide sequence

RefSeq Acc Id:

NM_001283037 ⟹ NP_001269966

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	20	56,468,627 - 56,519,449 (+)	NCBI
HuRef	20	51,828,350 - 51,878,628 (+)	NCBI
CHM1_1	20	54,944,764 - 54,995,053 (+)	NCBI
T2T-CHM13v2.0	20	58,246,116 - 58,296,943 (+)	NCBI

Sequence:

show sequence

GCGGATTTCGCCGGAAATCCCGGAAGTGACAGCTTTGGGGGTTTGCTGCTGGCTCTGACTCCCG
TCCTGCGATGGGTTGCGACGGGGGAACAATCCCCAAGAGGCATGAACTGGTGAAGGGGCCGAAG
AAGGTTGAGAAGGTCGACAAAGATGCTGAATTAGTGGCCCAATGGAACTATTGTACTCTAAGTC
AGGAAATATTAAGACGACCAATAGTTGCCTGTGAACTTGGCAGACTTTATAACAAAGATGCCGT
CATTGAATTTCTCTTGGACAAATCTGCAGAAAAGGCTCTTGGGAAGGCAGCATCTCACATTAAA
AGCATTAAGAATGTGACAGAGCTGAAGCTTTCTGATAATCCTGCCTGGGAAGGGGATAAAGGAA
ACACTAAAGGTGACAAGCACGATGACCTCCAGCGGGCGCGTTTCATCTGCCCCGTTGTGGGCCT
GGAGATGAACGGCCGACACAGGTTCTGCTTCCTTCGGTGCTGCGGCTGTGTGTTTTCTGAGCGA
GCCTTGAAAGAGATAAAAGCGGAAGTTTGCCACACGTGTGGGGCTGCCTTCCAGGAGGATGATG
TCATCATGCTCAATGGCACCAAGGAGGATGTGGACGTGCTGAAGACAAGGATGGAGGAGAGAAG
GCTGAGAGCGAAGCTGGAAAAGAAGCCCCAGGGCCATCAAAAGTTAAGACAGGGAAGCCTGAAG
AAGCCAGCCTTGATTCTAGAGAGAAGAAAACCAACTTGGCTCCCAAAAGCACAGCAATGAATGA
GAGCTCTTCTGGAAAAGCTGGGAAGCCTCCGTGTGGAGCCACAAAGAGGTCCATCGCTGACAGT
GAAGAATCGGAGGCCTACAAGTCCCTCTTTACCACTCACAGCTCCGCCAAGCGCTCCAAGGAGG
AGTCTGCCCACTGGGTCACCCACACGTCCTACTGCTTCTGAAGCCCGCACTGCCACCGCTCCTG
CCCCAGAAGGTTGTTTAGTTTCCACGTAGGCAGGTCGCTTTGTGCCTCTGAGTGCGCTGCTGTG
TGTTCTCTCTATAGTTCTGTGTCATAAAGCTGTCCTGGCCAGCCTTCAAGCTGGTGTGGCCACT
CTTGATGTGAGGCGTGTCGGTTCCAGGGGGGACATGGGAGGGGCTGCACAGTGGCCCGAGGTCA
TGCTTGCTTCCACCTGCAGGTGCATTTGGTCCTTTCCATGGCCAGGAAGCCCTGTGGGCTGCAC
TTTTTATGCTTGCAGTAACAAGAGACTCCAGAGTCCTCACCGGTGCAGAGTTGGCACATATTAA
TTAACTAAAATTCTAATGATCTTGCTACCAGCAATAAATCAAGTAGGCCAAGTGAAACTGGGCT
TTAAAAAGGATGGATTTCAAATACACTGTGCCCACTAGAAGCTTCGAAGGGCCTCGTCCCTCTG
CTACAGCCCTGGGAGGAGCCAGGATCCTTGTTGGTCTAGCTAAATACTGTTAGGGGAGTGTGCC
CCATCTCATCATTTCGAAGATAGCAGAGTCATAGTTGGGCACCCAGTGATTGGGTTCAAAAATA
AAGCTGGTCTGCCTCTTCTCTCCTCTGTGTTTTTATCTTTTCTACCTTCTGCTCATGCTTGGGT
AAGAACATTGCAGCCGTTGCATTGGTGATTACAGGAGTCATTCCATGAAGTCAGAAGAACCCAC
CCTTCTCTCCTCCAGCAGATGGTAAAGGGAGAATCGTACCCAAAAAGAGGTGCATTTTATCTGC
CTATAAGTTGTGTTGACGTCAATAGCTAGTGAAACTTCTCATGAGACTCCTAATGAAGAACCAA
GAGCCACAGGCCTCTGCGTGGCTTTCTGCACACGGTGGTATGACTGAGATAGTGACTGGTTCTC
TATACAGACCCCGGGGCCCTGGGTTTCCTTCAGAAGCAGAAGGAGCTGTGGGAGGTGAATGGTG
GGAGGTGAACAGGCAGGTTCTGTGGGAGACACAGACACGTGGGCAGAACTCCAGGGAGAGGCCA
GCAAGGGAGAACCATGTGTGGCCCTGCTTTTTCTCAAACCCTGTGTGGTTCCCGGCTTCACAGT
TGATGGGAAGGTTTGGCCCCAAGGATATTTTGACATTGTGAGTATAGAGCATTTTAATAAAAAT
TAAGTGATG

hide sequence

RefSeq Acc Id:

NM_016407 ⟹ NP_057491

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	20	56,468,627 - 56,519,449 (+)	NCBI
GRCh37	20	55,043,641 - 55,093,942 (+)	NCBI
Build 36	20	54,477,092 - 54,527,345 (+)	NCBI Archive
Celera	20	51,784,073 - 51,834,372 (+)	RGD
HuRef	20	51,828,350 - 51,878,628 (+)	NCBI
CHM1_1	20	54,944,764 - 54,995,053 (+)	NCBI
T2T-CHM13v2.0	20	58,246,116 - 58,296,943 (+)	NCBI

Sequence:

show sequence

GCGGATTTCGCCGGAAATCCCGGAAGTGACAGCTTTGGGGGTTTGCTGCTGGCTCTGACTCCCG
TCCTGCGATGGGTTGCGACGGGGGAACAATCCCCAAGAGGCATGAACTGGTGAAGGGGCCGAAG
AAGGTTGAGAAGGTCGACAAAGATGCTGAATTAGTGGCCCAATGGAACTATTGTACTCTAAGTC
AGGAAATATTAAGACGACCAATAGTTGCCTGTGAACTTGGCAGACTTTATAACAAAGATGCCGT
CATTGAATTTCTCTTGGACAAATCTGCAGAAAAGGCTCTTGGGAAGGCAGCATCTCACATTAAA
AGCATTAAGAATGTGACAGAGCTGAAGCTTTCTGATAATCCTGCCTGGGAAGGGGATAAAGGAA
ACACTAAAGGTGACAAGCACGATGACCTCCAGCGGGCGCGTTTCATCTGCCCCGTTGTGGGCCT
GGAGATGAACGGCCGACACAGGTTCTGCTTCCTTCGGTGCTGCGGCTGTGTGTTTTCTGAGCGA
GCCTTGAAAGAGATAAAAGCGGAAGTTTGCCACACGTGTGGGGCTGCCTTCCAGGAGGATGATG
TCATCATGCTCAATGGCACCAAGGAGGATGTGGACGTGCTGAAGACAAGGATGGAGGAGAGAAG
GCTGAGAGCGAAGCTGGAAAAGAAAACAAAGAAACCCAAGGCAGCAGAGTCTGTTTCAAAACCA
GATGTCAGTGAAGAAGCCCCAGGGCCATCAAAAGTTAAGACAGGGAAGCCTGAAGAAGCCAGCC
TTGATTCTAGAGAGAAGAAAACCAACTTGGCTCCCAAAAGCACAGCAATGAATGAGAGCTCTTC
TGGAAAAGCTGGGAAGCCTCCGTGTGGAGCCACAAAGAGGTCCATCGCTGACAGTGAAGAATCG
GAGGCCTACAAGTCCCTCTTTACCACTCACAGCTCCGCCAAGCGCTCCAAGGAGGAGTCTGCCC
ACTGGGTCACCCACACGTCCTACTGCTTCTGAAGCCCGCACTGCCACCGCTCCTGCCCCAGAAG
GTTGTTTAGTTTCCACGTAGGCAGGTCGCTTTGTGCCTCTGAGTGCGCTGCTGTGTGTTCTCTC
TATAGTTCTGTGTCATAAAGCTGTCCTGGCCAGCCTTCAAGCTGGTGTGGCCACTCTTGATGTG
AGGCGTGTCGGTTCCAGGGGGGACATGGGAGGGGCTGCACAGTGGCCCGAGGTCATGCTTGCTT
CCACCTGCAGGTGCATTTGGTCCTTTCCATGGCCAGGAAGCCCTGTGGGCTGCACTTTTTATGC
TTGCAGTAACAAGAGACTCCAGAGTCCTCACCGGTGCAGAGTTGGCACATATTAATTAACTAAA
ATTCTAATGATCTTGCTACCAGCAATAAATCAAGTAGGCCAAGTGAAACTGGGCTTTAAAAAGG
ATGGATTTCAAATACACTGTGCCCACTAGAAGCTTCGAAGGGCCTCGTCCCTCTGCTACAGCCC
TGGGAGGAGCCAGGATCCTTGTTGGTCTAGCTAAATACTGTTAGGGGAGTGTGCCCCATCTCAT
CATTTCGAAGATAGCAGAGTCATAGTTGGGCACCCAGTGATTGGGTTCAAAAATAAAGCTGGTC
TGCCTCTTCTCTCCTCTGTGTTTTTATCTTTTCTACCTTCTGCTCATGCTTGGGTAAGAACATT
GCAGCCGTTGCATTGGTGATTACAGGAGTCATTCCATGAAGTCAGAAGAACCCACCCTTCTCTC
CTCCAGCAGATGGTAAAGGGAGAATCGTACCCAAAAAGAGGTGCATTTTATCTGCCTATAAGTT
GTGTTGACGTCAATAGCTAGTGAAACTTCTCATGAGACTCCTAATGAAGAACCAAGAGCCACAG
GCCTCTGCGTGGCTTTCTGCACACGGTGGTATGACTGAGATAGTGACTGGTTCTCTATACAGAC
CCCGGGGCCCTGGGTTTCCTTCAGAAGCAGAAGGAGCTGTGGGAGGTGAATGGTGGGAGGTGAA
CAGGCAGGTTCTGTGGGAGACACAGACACGTGGGCAGAACTCCAGGGAGAGGCCAGCAAGGGAG
AACCATGTGTGGCCCTGCTTTTTCTCAAACCCTGTGTGGTTCCCGGCTTCACAGTTGATGGGAA
GGTTTGGCCCCAAGGATATTTTGACATTGTGAGTATAGAGCATTTTAATAAAAATTAAGTGATG

hide sequence

RefSeq Acc Id:

XM_017027872 ⟹ XP_016883361

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	20	56,470,626 - 56,519,449 (+)	NCBI

Sequence:

show sequence

GTCCTGCGATGGGTTGCGACGGGGGAACAATCCCCAAGAGGCATGAACTGGTGAAGGGGCCGAA
GAAGGTTGAGAAGGCAATTATTGGTGGGCTCCTGGATGGGGCCTGGTCACCAGAAACACCAAGC
CAAGATTAGAAGCCTGGAACTTTCAGCCCCACCTCACCCCCATCCTTCAGGGAGGAGAAGAGGA
ATTGGACATGGAGTTAATAATCCATCATGCCTACGTGTACAGATATGTAAAAACTTAAAAGAAG
AAAGACCCTAGGAAAGAAGAGAGACCCTGATTTGGCATTTGAAGAATGGGAAAGAGTGGTGCAG
TCTACACAGTGAAGGAAAAAACAAGAACGGGAAGGAGTGGGACATGGAATATGATGTCGACAAA
GATGCTGAATTAGTGGCCCAATGGAACTATTGTACTCTAAGTCAGGAAATATTAAGACGACCAA
TAGTTGCCTGTGAACTTGGCAGACTTTATAACAAAGATGCCGTCATTGAATTTCTCTTGGACAA
ATCTGCAGAAAAGGCTCTTGGGAAGGCAGCATCTCACATTAAAAGCATTAAGAATGTGACAGAG
CTGAAGCTTTCTGATAATCCTGCCTGGGAAGGGGATAAAGGAAACACTAAAGGTGACAAGCACG
ATGACCTCCAGCGGGCGCGTTTCATCTGCCCCGTTGTGGGCCTGGAGATGAACGGCCGACACAG
GTTCTGCTTCCTTCGGTGCTGCGGCTGTGTGTTTTCTGAGCGAGCCTTGAAAGAGATAAAAGCG
GAAGTTTGCCACACGTGTGGGGCTGCCTTCCAGGAGGATGATGTCATCATGCTCAATGGCACCA
AGGAGGATGTGGACGTGCTGAAGACAAGGATGGAGGAGAGAAGGCTGAGAGCGAAGCTGGAAAA
GAAAACAAAGAAACCCAAGGCAGCAGAGTCTGTTTCAAAACCAGATGTCAGTGAAGAAGCCCCA
GGGCCATCAAAAGTTAAGACAGGGAAGCCTGAAGAAGCCAGCCTTGATTCTAGAGAGAAGAAAA
CCAACTTGGCTCCCAAAAGCACAGCAATGAATGAGAGCTCTTCTGGAAAAGCTGGGAAGCCTCC
GTGTGGAGCCACAAAGAGGTCCATCGCTGACAGTGAAGAATCGGAGGCCTACAAGTCCCTCTTT
ACCACTCACAGCTCCGCCAAGCGCTCCAAGGAGGAGTCTGCCCACTGGGTCACCCACACGTCCT
ACTGCTTCTGAAGCCCGCACTGCCACCGCTCCTGCCCCAGAAGGTTGTTTAGTTTCCACGTAGG
CAGGTCGCTTTGTGCCTCTGAGTGCGCTGCTGTGTGTTCTCTCTATAGTTCTGTGTCATAAAGC
TGTCCTGGCCAGCCTTCAAGCTGGTGTGGCCACTCTTGATGTGAGGCGTGTCGGTTCCAGGGGG
GACATGGGAGGGGCTGCACAGTGGCCCGAGGTCATGCTTGCTTCCACCTGCAGGTGCATTTGGT
CCTTTCCATGGCCAGGAAGCCCTGTGGGCTGCACTTTTTATGCTTGCAGTAACAAGAGACTCCA
GAGTCCTCACCGGTGCAGAGTTGGCACATATTAATTAACTAAAATTCTAATGATCTTGCTACCA
GCAATAAATCAAGTAGGCCAAGTGAAACTGGGCTTTAAAAAGGATGGATTTCAAATACACTGTG
CCCACTAGAAGCTTCGAAGGGCCTCGTCCCTCTGCTACAGCCCTGGGAGGAGCCAGGATCCTTG
TTGGTCTAGCTAAATACTGTTAGGGGAGTGTGCCCCATCTCATCATTTCGAAGATAGCAGAGTC
ATAGTTGGGCACCCAGTGATTGGGTTCAAAAATAAAGCTGGTCTGCCTCTTCTCT

hide sequence

RefSeq Acc Id:

XM_047440189 ⟹ XP_047296145

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	20	56,470,701 - 56,519,449 (+)	NCBI

RefSeq Acc Id:

XM_054323482 ⟹ XP_054179457

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	20	58,248,190 - 58,296,943 (+)	NCBI

RefSeq Acc Id:

XM_054323483 ⟹ XP_054179458

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	20	58,248,115 - 58,296,943 (+)	NCBI

Protein Sequences


Protein RefSeqs	NP_001269964	(Get FASTA)	NCBI Sequence Viewer
	NP_001269965	(Get FASTA)	NCBI Sequence Viewer
	NP_001269966	(Get FASTA)	NCBI Sequence Viewer
	NP_057491	(Get FASTA)	NCBI Sequence Viewer
	XP_016883361	(Get FASTA)	NCBI Sequence Viewer
	XP_047296145	(Get FASTA)	NCBI Sequence Viewer
	XP_054179457	(Get FASTA)	NCBI Sequence Viewer
	XP_054179458	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAF17212	(Get FASTA)	NCBI Sequence Viewer
	AAF29128	(Get FASTA)	NCBI Sequence Viewer
	AAF29133	(Get FASTA)	NCBI Sequence Viewer
	AAH02769	(Get FASTA)	NCBI Sequence Viewer
	AAH03359	(Get FASTA)	NCBI Sequence Viewer
	AAK14929	(Get FASTA)	NCBI Sequence Viewer
	AAP73812	(Get FASTA)	NCBI Sequence Viewer
	BAA91193	(Get FASTA)	NCBI Sequence Viewer
	BAG37146	(Get FASTA)	NCBI Sequence Viewer
	BAG57109	(Get FASTA)	NCBI Sequence Viewer
	BAG63427	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000023939
	ENSP00000023939.5
	ENSP00000349906
	ENSP00000349906.6
	ENSP00000379220
	ENSP00000379220.3
	ENSP00000400322.1
GenBank Protein	Q9BY42	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_057491 ⟸ NM_016407
- Peptide Label:	isoform b
- UniProtKB:	Q9P002 (UniProtKB/Swiss-Prot), Q9NZZ8 (UniProtKB/Swiss-Prot), Q9NX29 (UniProtKB/Swiss-Prot), Q9HCV9 (UniProtKB/Swiss-Prot), Q9BYL7 (UniProtKB/Swiss-Prot), E1P5Z9 (UniProtKB/Swiss-Prot), Q9UHW3 (UniProtKB/Swiss-Prot), Q9BY42 (UniProtKB/Swiss-Prot), B2RB99 (UniProtKB/TrEMBL)
- Sequence:	show sequence MGCDGGTIPKRHELVKGPKKVEKVDKDAELVAQWNYCTLSQEILRRPIVACELGRLYNKDAVIE FLLDKSAEKALGKAASHIKSIKNVTELKLSDNPAWEGDKGNTKGDKHDDLQRARFICPVVGLEM NGRHRFCFLRCCGCVFSERALKEIKAEVCHTCGAAFQEDDVIMLNGTKEDVDVLKTRMEERRLR AKLEKKTKKPKAAESVSKPDVSEEAPGPSKVKTGKPEEASLDSREKKTNLAPKSTAMNESSSGK AGKPPCGATKRSIADSEESEAYKSLFTTHSSAKRSKEESAHWVTHTSYCF hide sequence

RefSeq Acc Id:	NP_001269964 ⟸ NM_001283035
- Peptide Label:	isoform a
- UniProtKB:	A0A0A0MQR2 (UniProtKB/TrEMBL), B4DXL5 (UniProtKB/TrEMBL)
- Sequence:	show sequence MGCDGGTIPKRHELVKGPKKVEKIWHLKNGKEWCSLHSEGKNKNGKEWDMEYDVDKDAELVAQW NYCTLSQEILRRPIVACELGRLYNKDAVIEFLLDKSAEKALGKAASHIKSIKNVTELKLSDNPA WEGDKGNTKGDKHDDLQRARFICPVVGLEMNGRHRFCFLRCCGCVFSERALKEIKAEVCHTCGA AFQEDDVIMLNGTKEDVDVLKTRMEERRLRAKLEKKTKKPKAAESVSKPDVSEEAPGPSKVKTG KPEEASLDSREKKTNLAPKSTAMNESSSGKAGKPPCGATKRSIADSEESEAYKSLFTTHSSAKR SKEESAHWVTHTSYCF hide sequence

RefSeq Acc Id:	NP_001269965 ⟸ NM_001283036
- Peptide Label:	isoform c
- UniProtKB:	B2RB99 (UniProtKB/TrEMBL)
- Sequence:	show sequence MGCDGGTIPKRHELVKGPKKVEKVDKDAELVAQWNYCTLSQEILRRPIVACELGRLYNKDAVIE FLLDKSAEKALGKAASHIKSIKNVTELKLSDNPAWEGDKGNTKGDKHDDLQRARFICPVVGLEM NGRHRFCFLRCCGCVFSERALKEIKAEVCHTCGAAFQEDDVIMLNGTKEDVDVLKTRMEERRLR AKLEKKTKKPKAAESVSKPDVSEAPGPSKVKTGKPEEASLDSREKKTNLAPKSTAMNESSSGKA GKPPCGATKRSIADSEESEAYKSLFTTHSSAKRSKEESAHWVTHTSYCF hide sequence

RefSeq Acc Id:	NP_001269966 ⟸ NM_001283037
- Peptide Label:	isoform d
- UniProtKB:	A2A2L6 (UniProtKB/TrEMBL)
- Sequence:	show sequence MGCDGGTIPKRHELVKGPKKVEKVDKDAELVAQWNYCTLSQEILRRPIVACELGRLYNKDAVIE FLLDKSAEKALGKAASHIKSIKNVTELKLSDNPAWEGDKGNTKGDKHDDLQRARFICPVVGLEM NGRHRFCFLRCCGCVFSERALKEIKAEVCHTCGAAFQEDDVIMLNGTKEDVDVLKTRMEERRLR AKLEKKPQGHQKLRQGSLKKPALILERRKPTWLPKAQQ hide sequence

RefSeq Acc Id:	XP_016883361 ⟸ XM_017027872
- Peptide Label:	isoform X1
- UniProtKB:	B2RB99 (UniProtKB/TrEMBL)
- Sequence:	show sequence MEYDVDKDAELVAQWNYCTLSQEILRRPIVACELGRLYNKDAVIEFLLDKSAEKALGKAASHIK SIKNVTELKLSDNPAWEGDKGNTKGDKHDDLQRARFICPVVGLEMNGRHRFCFLRCCGCVFSER ALKEIKAEVCHTCGAAFQEDDVIMLNGTKEDVDVLKTRMEERRLRAKLEKKTKKPKAAESVSKP DVSEEAPGPSKVKTGKPEEASLDSREKKTNLAPKSTAMNESSSGKAGKPPCGATKRSIADSEES EAYKSLFTTHSSAKRSKEESAHWVTHTSYCF hide sequence

Ensembl Acc Id:

ENSP00000023939 ⟸ ENST00000023939

Ensembl Acc Id:

ENSP00000400322 ⟸ ENST00000449062

Ensembl Acc Id:

ENSP00000379220 ⟸ ENST00000395881

Ensembl Acc Id:

ENSP00000349906 ⟸ ENST00000357348

RefSeq Acc Id:	XP_047296145 ⟸ XM_047440189
- Peptide Label:	isoform X1

RefSeq Acc Id:	XP_054179458 ⟸ XM_054323483
- Peptide Label:	isoform X1

RefSeq Acc Id:	XP_054179457 ⟸ XM_054323482
- Peptide Label:	isoform X1

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9BY42-F1-model_v2	AlphaFold	Q9BY42	1-306	view protein structure

Promoters

RGD ID:

6798571

Promoter ID:

HG_KWN:39901

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

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

Transcripts:

OTTHUMT00000079817, OTTHUMT00000079818, OTTHUMT00000259434, OTTHUMT00000259435, OTTHUMT00000259436, UC002XXS.2, UC002XXU.2, UC002XXV.2

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	20	54,476,844 - 54,477,344 (+)	MPROMDB

RGD ID:

6852164

Promoter ID:

EP73888

Type:

initiation region

Name:

HS_C20ORF43

Description:

Chromosome 20 open reading frame 43.

SO ACC ID:

SO:0000170

Source:

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

Experiment Methods:

NEDO full length human cDNA sequencing project.; Oligo-capping

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	20	54,477,120 - 54,477,180	EPD

RGD ID:

13602166

Promoter ID:

EPDNEW_H27267

Type:

initiation region

Name:

RTFDC1_2

Description:

replication termination factor 2 domain containing 1

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H27268

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	20	56,468,532 - 56,468,592	EPDNEW

RGD ID:

13602168

Promoter ID:

EPDNEW_H27268

Type:

initiation region

Name:

RTFDC1_1

Description:

replication termination factor 2 domain containing 1

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H27267

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	20	56,468,657 - 56,468,717	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:15890	AgrOrtholog
COSMIC	RTF2	COSMIC
Ensembl Genes	ENSG00000022277	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000023939	ENTREZGENE
	ENST00000023939.8	UniProtKB/TrEMBL
	ENST00000357348	ENTREZGENE
	ENST00000357348.10	UniProtKB/Swiss-Prot
	ENST00000395881	ENTREZGENE
	ENST00000395881.7	UniProtKB/TrEMBL
	ENST00000449062.1	UniProtKB/TrEMBL
GTEx	ENSG00000022277	GTEx
HGNC ID	HGNC:15890	ENTREZGENE
Human Proteome Map	RTF2	Human Proteome Map
InterPro	Rtf2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Rtf2_RING-finger	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:51507	UniProtKB/Swiss-Prot
NCBI Gene	51507	ENTREZGENE
PANTHER	PTHR12775	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	REPLICATION TERMINATION FACTOR 2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	Rtf2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA25756	PharmGKB
UniProt	A0A0A0MQR2	ENTREZGENE, UniProtKB/TrEMBL
	A2A2L5_HUMAN	UniProtKB/TrEMBL
	A2A2L6	ENTREZGENE, UniProtKB/TrEMBL
	B2RB99	ENTREZGENE, UniProtKB/TrEMBL
	B4DXL5	ENTREZGENE, UniProtKB/TrEMBL
	E1P5Z9	ENTREZGENE
	Q9BY42	ENTREZGENE
	Q9BYL7	ENTREZGENE
	Q9HCV9	ENTREZGENE
	Q9NX29	ENTREZGENE
	Q9NZZ8	ENTREZGENE
	Q9P002	ENTREZGENE
	Q9UHW3	ENTREZGENE
	RTF2_HUMAN	UniProtKB/Swiss-Prot
UniProt Secondary	E1P5Z9	UniProtKB/Swiss-Prot
	Q9BYL7	UniProtKB/Swiss-Prot
	Q9HCV9	UniProtKB/Swiss-Prot
	Q9NX29	UniProtKB/Swiss-Prot
	Q9NZZ8	UniProtKB/Swiss-Prot
	Q9P002	UniProtKB/Swiss-Prot
	Q9UHW3	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2018-01-09	RTF2	replication termination factor 2	RTFDC1	replication termination factor 2 domain containing 1	Symbol and/or name change	5135510	APPROVED
2012-11-06	RTFDC1	replication termination factor 2 domain containing 1	C20orf43	chromosome 20 open reading frame 43	Symbol and/or name change	5135510	APPROVED

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

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

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

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

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