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Gene: PTCD2 (pentatricopeptide repeat domain 2) Homo sapiens

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Symbol:

PTCD2

Name:

pentatricopeptide repeat domain 2

RGD ID:

1321137

HGNC Page

HGNC:25734

Description:

Enables RNA binding activity. Predicted to be involved in mitochondrion organization and regulation of mRNA processing. Predicted to act upstream of or within several processes, including liver development; muscle cell development; and ventricular cardiac muscle tissue morphogenesis. Located in mitochondrion.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

CTC-365E16.1; FLJ12598; pentatricopeptide repeat-containing protein 2; pentatricopeptide repeat-containing protein 2, mitochondrial

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Related Pseudogenes:

PTCD2P1 PTCD2P2

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	5	72,320,373 - 72,368,395 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	5	72,320,367 - 72,368,395 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	5	71,616,200 - 71,664,222 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	5	71,651,956 - 71,690,936 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	5	71,651,973 - 71,691,792	NCBI
Celera	5	67,511,586 - 67,550,568 (+)	NCBI		Celera
Cytogenetic Map	5	q13.2	NCBI
HuRef	5	66,821,949 - 66,860,941 (+)	NCBI		HuRef
CHM1_1	5	71,048,875 - 71,087,855 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	5	72,801,543 - 72,849,569 (+)	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

Neurodevelopmental Disorders (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dimethylhydrazine (ISO)

1-nitropyrene (EXP)

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

4,4'-sulfonyldiphenol (ISO)

all-trans-retinoic acid (EXP)

arsane (EXP)

arsenic atom (EXP)

bisphenol A (EXP,ISO)

butanal (EXP)

cadmium atom (EXP)

cadmium dichloride (EXP,ISO)

clobetasol (ISO)

clofibrate (ISO)

copper(II) sulfate (EXP)

dibutyl phthalate (ISO)

doxorubicin (EXP)

ethanol (ISO)

folic acid (ISO)

inulin (ISO)

manganese atom (EXP)

manganese(0) (EXP)

manganese(II) chloride (EXP)

methyl methanesulfonate (EXP)

nitrates (ISO)

paracetamol (ISO)

pentanal (EXP)

perfluorooctane-1-sulfonic acid (ISO)

quinolin-8-ol (EXP)

resveratrol (EXP)

silicon dioxide (EXP)

sodium arsenite (EXP)

Soman (ISO)

testosterone enanthate (EXP)

thioacetamide (ISO)

thiram (EXP)

trichloroethene (ISO)

triphenyl phosphate (EXP)

urethane (EXP)

valproic acid (EXP,ISO)

vorinostat (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

heart development (IEA)

kidney development (IEA)

liver development (IEA)

mitochondrion organization (IBA,IEA)

mRNA processing (IEA)

muscle cell development (IEA)

regulation of gene expression (IEA)

regulation of mRNA processing (IBA,IEA,ISS)

ventricular cardiac muscle tissue morphogenesis (IEA)

Cellular Component

mitochondrion (HTP,IBA,IDA,IEA)

Molecular Function

protein binding (IPI)

RNA binding (HDA)

References

References - curated

#	Reference Title	Reference Citation
1.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
3.	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:16344560	PMID:18729827	PMID:20877624	PMID:21873635	PMID:22658674	PMID:22681889	PMID:23635806	PMID:25416956	PMID:26186194	PMID:28514442	PMID:31586073
PMID:31980649	PMID:32296183	PMID:33961781	PMID:34800366	PMID:35337019	PMID:36114006	PMID:36430722

Genomics

Comparative Map Data

PTCD2
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	5	72,320,373 - 72,368,395 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	5	72,320,367 - 72,368,395 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	5	71,616,200 - 71,664,222 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	5	71,651,956 - 71,690,936 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	5	71,651,973 - 71,691,792	NCBI
Celera	5	67,511,586 - 67,550,568 (+)	NCBI		Celera
Cytogenetic Map	5	q13.2	NCBI
HuRef	5	66,821,949 - 66,860,941 (+)	NCBI		HuRef
CHM1_1	5	71,048,875 - 71,087,855 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	5	72,801,543 - 72,849,569 (+)	NCBI		T2T-CHM13v2.0

Ptcd2
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	13	99,456,157 - 99,481,215 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	13	99,456,155 - 99,481,213 (-)	Ensembl		GRCm39 Ensembl
GRCm38	13	99,319,649 - 99,344,678 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	13	99,319,647 - 99,344,705 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	13	100,089,604 - 100,114,633 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	13	100,419,806 - 100,444,835 (-)	NCBI		MGSCv36	mm8
Celera	13	102,971,896 - 102,996,749 (-)	NCBI		Celera
Cytogenetic Map	13	D1	NCBI
cM Map	13	52.76	NCBI

Ptcd2
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	2	32,446,441 - 32,474,114 (-)	NCBI		GRCr8
mRatBN7.2	2	30,712,276 - 30,739,968 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	2	30,712,280 - 30,739,942 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	2	37,782,104 - 37,809,729 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	2	35,876,429 - 35,904,060 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	2	30,680,625 - 30,708,291 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	2	29,570,581 - 29,598,328 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	2	29,570,538 - 29,598,277 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	2	48,732,573 - 48,760,245 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	2	30,310,431 - 30,338,099 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	2	30,231,255 - 30,258,441 (-)	NCBI
Celera	2	26,737,451 - 26,765,119 (-)	NCBI		Celera
Cytogenetic Map	2	q12	NCBI

Ptcd2
(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_004955575	1,126,639 - 1,158,181 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955575	1,126,978 - 1,156,727 (+)	NCBI	ChiLan1.0	ChiLan1.0

PTCD2
(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	4	42,955,057 - 42,993,686 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	5	41,108,761 - 41,147,314 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	5	42,953,639 - 42,992,301 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	5	43,552,528 - 43,591,161 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	5	43,552,528 - 43,591,162 (-)	Ensembl	panpan1.1		panPan2

PTCD2
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	2	55,351,678 - 55,382,881 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	2	55,351,558 - 55,382,746 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	2	52,320,030 - 52,351,013 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	2	55,867,971 - 55,898,984 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	2	55,867,859 - 55,898,818 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	2	52,928,162 - 52,959,182 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	2	53,696,288 - 53,727,283 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	2	54,586,965 - 54,617,985 (+)	NCBI		UU_Cfam_GSD_1.0

Ptcd2
(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	186,693,878 - 186,723,121 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936549	4,135,811 - 4,165,009 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936549	4,135,854 - 4,164,991 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

PTCD2
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	16	48,605,012 - 48,636,181 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	16	48,605,014 - 48,635,954 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	16	52,593,553 - 52,620,277 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

PTCD2
(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	4	66,658,183 - 66,695,339 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	4	66,658,212 - 66,699,405 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666049	15,414,598 - 15,455,658 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Ptcd2
(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_004624905	1,427,530 - 1,453,796 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624905	1,427,508 - 1,454,418 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in PTCD2
34 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_024754.4(PTCD2):c.1072C>T (p.Pro358Ser)	single nucleotide variant	Malignant melanoma [RCV000066983]	Chr5:72358332 [GRCh38] Chr5:71654159 [GRCh37] Chr5:71689915 [NCBI36] Chr5:5q13.2	not provided
GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	copy number gain	See cases [RCV000138780]	Chr5:22149..74412725 [GRCh38] Chr5:22149..73708550 [GRCh37] Chr5:75149..73744306 [NCBI36] Chr5:5p15.33-q13.3	pathogenic
GRCh38/hg38 5q13.2(chr5:71915937-72562961)x3	copy number gain	See cases [RCV000141543]	Chr5:71915937..72562961 [GRCh38] Chr5:71211764..71858788 [GRCh37] Chr5:71247520..71894544 [NCBI36] Chr5:5q13.2	uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	copy number gain	See cases [RCV000510723]	Chr5:113577..180719789 [GRCh37] Chr5:5p15.33-q35.3	pathogenic
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	copy number loss	See cases [RCV000511978]	Chr5:17628741..176575720 [GRCh37] Chr5:5p15.1-q35.2	pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	copy number gain	See cases [RCV000512039]	Chr5:113577..180719789 [GRCh37] Chr5:5p15.33-q35.3	pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3	copy number gain	not provided [RCV000744323]	Chr5:25328..180693344 [GRCh37] Chr5:5p15.33-q35.3	pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3	copy number gain	not provided [RCV000744317]	Chr5:13648..180905029 [GRCh37] Chr5:5p15.33-q35.3	pathogenic
GRCh37/hg19 5q13.2(chr5:71450015-72008955)x1	copy number loss	not provided [RCV000744846]	Chr5:71450015..72008955 [GRCh37] Chr5:5q13.2	likely benign
Single allele	deletion	Neurodevelopmental disorder [RCV000787436]	Chr5:14685137..149511942 [GRCh37] Chr5:5p15.2-q32	uncertain significance
GRCh38/hg38 5q11.2-13.2(chr5:58785203-73519962)x1	copy number loss	Intellectual disability [RCV000984869]	Chr5:58785203..73519962 [GRCh38] Chr5:5q11.2-13.2	likely pathogenic
NM_024754.5(PTCD2):c.1100T>C (p.Leu367Pro)	single nucleotide variant	not specified [RCV004291685]	Chr5:72358360 [GRCh38] Chr5:71654187 [GRCh37] Chr5:5q13.2	uncertain significance
GRCh37/hg19 5q13.2(chr5:71017577-72056514)x1	copy number loss	not provided [RCV001258857]	Chr5:71017577..72056514 [GRCh37] Chr5:5q13.2	uncertain significance
NM_024754.5(PTCD2):c.814T>G (p.Cys272Gly)	single nucleotide variant	not specified [RCV004288205]	Chr5:72343022 [GRCh38] Chr5:71638849 [GRCh37] Chr5:5q13.2	uncertain significance
NM_024754.5(PTCD2):c.922C>T (p.His308Tyr)	single nucleotide variant	not specified [RCV004145343]	Chr5:72352734 [GRCh38] Chr5:71648561 [GRCh37] Chr5:5q13.2	uncertain significance
NM_024754.5(PTCD2):c.974T>C (p.Val325Ala)	single nucleotide variant	not specified [RCV004206235]	Chr5:72358234 [GRCh38] Chr5:71654061 [GRCh37] Chr5:5q13.2	uncertain significance
NM_024754.5(PTCD2):c.35C>G (p.Pro12Arg)	single nucleotide variant	not specified [RCV004214648]	Chr5:72320417 [GRCh38] Chr5:71616244 [GRCh37] Chr5:5q13.2	uncertain significance
NM_024754.5(PTCD2):c.65A>C (p.Gln22Pro)	single nucleotide variant	not specified [RCV004151181]	Chr5:72320447 [GRCh38] Chr5:71616274 [GRCh37] Chr5:5q13.2	uncertain significance
NM_024754.5(PTCD2):c.101C>T (p.Ser34Phe)	single nucleotide variant	not specified [RCV004226191]	Chr5:72320483 [GRCh38] Chr5:71616310 [GRCh37] Chr5:5q13.2	uncertain significance
NM_024754.5(PTCD2):c.433C>G (p.Leu145Val)	single nucleotide variant	not specified [RCV004110979]	Chr5:72331340 [GRCh38] Chr5:71627167 [GRCh37] Chr5:5q13.2	uncertain significance
NM_024754.5(PTCD2):c.854T>A (p.Met285Lys)	single nucleotide variant	not specified [RCV004214949]	Chr5:72352666 [GRCh38] Chr5:71648493 [GRCh37] Chr5:5q13.2	uncertain significance
NM_024754.5(PTCD2):c.716G>C (p.Arg239Thr)	single nucleotide variant	not specified [RCV004196672]	Chr5:72338698 [GRCh38] Chr5:71634525 [GRCh37] Chr5:5q13.2	uncertain significance
NM_024754.5(PTCD2):c.137A>T (p.Tyr46Phe)	single nucleotide variant	not specified [RCV004175222]	Chr5:72322181 [GRCh38] Chr5:71618008 [GRCh37] Chr5:5q13.2	uncertain significance
NM_024754.5(PTCD2):c.401C>T (p.Pro134Leu)	single nucleotide variant	not specified [RCV004076904]	Chr5:72331308 [GRCh38] Chr5:71627135 [GRCh37] Chr5:5q13.2	uncertain significance
NM_024754.5(PTCD2):c.715A>G (p.Arg239Gly)	single nucleotide variant	not specified [RCV004287322]	Chr5:72338697 [GRCh38] Chr5:71634524 [GRCh37] Chr5:5q13.2	uncertain significance
NM_024754.5(PTCD2):c.276G>C (p.Lys92Asn)	single nucleotide variant	not specified [RCV004276321]	Chr5:72326667 [GRCh38] Chr5:71622494 [GRCh37] Chr5:5q13.2	uncertain significance
NM_024754.5(PTCD2):c.1057G>C (p.Val353Leu)	single nucleotide variant	not specified [RCV004356443]	Chr5:72358317 [GRCh38] Chr5:71654144 [GRCh37] Chr5:5q13.2	likely benign
NM_024754.5(PTCD2):c.631T>C (p.Tyr211His)	single nucleotide variant	not specified [RCV004353145]	Chr5:72335877 [GRCh38] Chr5:71631704 [GRCh37] Chr5:5q13.2	uncertain significance
GRCh38/hg38 5q13.2(chr5:71378409-72329454)	copy number gain	Autism spectrum disorder [RCV003883394]	Chr5:71378409..72329454 [GRCh38] Chr5:5q13.2	uncertain significance
NM_024754.5(PTCD2):c.1013C>T (p.Thr338Ile)	single nucleotide variant	not specified [RCV004515466]	Chr5:72358273 [GRCh38] Chr5:71654100 [GRCh37] Chr5:5q13.2	uncertain significance
NM_024754.5(PTCD2):c.772G>A (p.Val258Met)	single nucleotide variant	not specified [RCV004515471]	Chr5:72342980 [GRCh38] Chr5:71638807 [GRCh37] Chr5:5q13.2	likely benign
NM_024754.5(PTCD2):c.313C>T (p.Arg105Trp)	single nucleotide variant	not specified [RCV004515468]	Chr5:72326704 [GRCh38] Chr5:71622531 [GRCh37] Chr5:5q13.2	uncertain significance
NM_024754.5(PTCD2):c.573G>T (p.Met191Ile)	single nucleotide variant	not specified [RCV004515470]	Chr5:72335819 [GRCh38] Chr5:71631646 [GRCh37] Chr5:5q13.2	uncertain significance
NM_024754.5(PTCD2):c.32G>T (p.Arg11Leu)	single nucleotide variant	not specified [RCV004515469]	Chr5:72320414 [GRCh38] Chr5:71616241 [GRCh37] Chr5:5q13.2	uncertain significance
NM_024754.5(PTCD2):c.244A>G (p.Lys82Glu)	single nucleotide variant	not specified [RCV004515467]	Chr5:72326635 [GRCh38] Chr5:71622462 [GRCh37] Chr5:5q13.2	likely benign
GRCh37/hg19 5q12.3-13.2(chr5:64364710-72835471)x1	copy number loss	See cases [RCV004442777]	Chr5:64364710..72835471 [GRCh37] Chr5:5q12.3-13.2	pathogenic
NM_024754.5(PTCD2):c.387G>C (p.Glu129Asp)	single nucleotide variant	not specified [RCV004657821]	Chr5:72331294 [GRCh38] Chr5:71627121 [GRCh37] Chr5:5q13.2	uncertain significance
NM_024754.5(PTCD2):c.500C>T (p.Ser167Leu)	single nucleotide variant	not specified [RCV004657822]	Chr5:72335049 [GRCh38] Chr5:71630876 [GRCh37] Chr5:5q13.2	uncertain significance
NM_024754.5(PTCD2):c.608A>G (p.Tyr203Cys)	single nucleotide variant	not specified [RCV004846526]	Chr5:72335854 [GRCh38] Chr5:71631681 [GRCh37] Chr5:5q13.2	uncertain significance
NM_024754.5(PTCD2):c.325G>A (p.Glu109Lys)	single nucleotide variant	not specified [RCV004846527]	Chr5:72326716 [GRCh38] Chr5:71622543 [GRCh37] Chr5:5q13.2	uncertain significance
NM_024754.5(PTCD2):c.668C>G (p.Thr223Ser)	single nucleotide variant	not specified [RCV004846529]	Chr5:72338650 [GRCh38] Chr5:71634477 [GRCh37] Chr5:5q13.2	uncertain significance
NM_024754.5(PTCD2):c.1123C>T (p.Arg375Cys)	single nucleotide variant	not specified [RCV004846530]	Chr5:72358383 [GRCh38] Chr5:71654210 [GRCh37] Chr5:5q13.2	uncertain significance
NM_024754.5(PTCD2):c.677G>A (p.Arg226Lys)	single nucleotide variant	not specified [RCV004846531]	Chr5:72338659 [GRCh38] Chr5:71634486 [GRCh37] Chr5:5q13.2	uncertain significance
NM_024754.5(PTCD2):c.970G>C (p.Asp324His)	single nucleotide variant	not specified [RCV004846532]	Chr5:72358230 [GRCh38] Chr5:71654057 [GRCh37] Chr5:5q13.2	uncertain significance
NM_024754.5(PTCD2):c.1087T>A (p.Ser363Thr)	single nucleotide variant	not specified [RCV004846533]	Chr5:72358347 [GRCh38] Chr5:71654174 [GRCh37] Chr5:5q13.2	uncertain significance
NM_024754.5(PTCD2):c.508A>G (p.Ile170Val)	single nucleotide variant	not specified [RCV004846525]	Chr5:72335057 [GRCh38] Chr5:71630884 [GRCh37] Chr5:5q13.2	uncertain significance

miRNA Target Status (No longer updated)

Predicted Target Of

	Summary Value
Count of predictions:	3261
Count of miRNA genes:	952
Interacting mature miRNAs:	1077
Transcripts:	ENST00000308077, ENST00000380639, ENST00000460837, ENST00000486995, ENST00000493283, ENST00000503315, ENST00000503868, ENST00000510676, ENST00000511752, ENST00000515198, ENST00000536805, ENST00000543322
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
596980566	GWAS1100085_H	memory performance QTL GWAS1100085 (human)		0.000007	memory performance		5	72365761	72365762	Human
407001382	GWAS650358_H	pulse pressure measurement QTL GWAS650358 (human)		4e-09	pulse pressure measurement	pulse pressure (CMO:0000292)	5	72359028	72359029	Human
597055088	GWAS1151162_H	systolic blood pressure QTL GWAS1151162 (human)		5e-08	systolic blood pressure	systolic blood pressure (CMO:0000004)	5	72361587	72361588	Human
597276991	GWAS1373065_H	Alzheimer disease, polygenic risk score QTL GWAS1373065 (human)		2e-09	Alzheimer disease, polygenic risk score		5	72361587	72361588	Human
597308093	GWAS1404167_H	pulse pressure measurement QTL GWAS1404167 (human)		4e-12	pulse pressure measurement	pulse pressure (CMO:0000292)	5	72340969	72340970	Human
597132256	GWAS1228330_H	memory performance QTL GWAS1228330 (human)		0.000007	memory performance		5	72365761	72365762	Human

Markers in Region

RH102189

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	71,654,743 - 71,654,886	UniSTS	GRCh37
Build 36	5	71,690,499 - 71,690,642	RGD	NCBI36
Celera	5	67,550,131 - 67,550,274	RGD
Cytogenetic Map	5	q13.2	UniSTS
HuRef	5	66,860,504 - 66,860,647	UniSTS
GeneMap99-GB4 RH Map	5	351.75	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_001284403	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001284404	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001284405	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_024754	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_005248601	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_005248603	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017009866	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017009867	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017009868	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047417743	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047417744	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047417745	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054353496	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054353497	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054353498	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054353499	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_001742270	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_007058635	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_008487161	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_008487162	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_008487163	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_241790	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_948298	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC026406	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC093278	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AI798903	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK022660	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK056761	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK298750	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK303639	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK303776	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC018720	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471084	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068273	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CR457290	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA082506	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DC393817	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000308077 ⟹ ENSP00000308948

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	72,320,373 - 72,360,225 (+)	Ensembl

Ensembl Acc Id:

ENST00000380639 ⟹ ENSP00000370013

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	72,320,373 - 72,368,395 (+)	Ensembl

Ensembl Acc Id:

ENST00000460837

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	72,335,559 - 72,358,838 (+)	Ensembl

Ensembl Acc Id:

ENST00000486995 ⟹ ENSP00000425606

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	72,320,373 - 72,359,228 (+)	Ensembl

Ensembl Acc Id:

ENST00000493283

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	72,320,399 - 72,352,646 (+)	Ensembl

Ensembl Acc Id:

ENST00000503315 ⟹ ENSP00000425773

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	72,320,398 - 72,358,912 (+)	Ensembl

Ensembl Acc Id:

ENST00000503868 ⟹ ENSP00000427349

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	72,320,376 - 72,359,233 (+)	Ensembl

Ensembl Acc Id:

ENST00000510676 ⟹ ENSP00000426295

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	72,320,388 - 72,358,384 (+)	Ensembl

Ensembl Acc Id:

ENST00000511752 ⟹ ENSP00000429665

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	72,320,373 - 72,338,671 (+)	Ensembl

Ensembl Acc Id:

ENST00000515198 ⟹ ENSP00000427524

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	72,320,368 - 72,352,757 (+)	Ensembl

Ensembl Acc Id:

ENST00000536805 ⟹ ENSP00000444772

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	72,320,367 - 72,359,352 (+)	Ensembl

Ensembl Acc Id:

ENST00000543322 ⟹ ENSP00000438810

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	72,320,367 - 72,359,352 (+)	Ensembl

RefSeq Acc Id:

NM_001284403 ⟹ NP_001271332

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	72,320,373 - 72,368,395 (+)	NCBI
HuRef	5	66,821,943 - 66,860,941 (+)	NCBI
CHM1_1	5	71,048,869 - 71,087,855 (+)	NCBI
T2T-CHM13v2.0	5	72,801,543 - 72,849,569 (+)	NCBI

Sequence:

show sequence

AGTAGTTGGTATGGTCCGAGACAGTATGGCTGCTGCATTTCGGCCCTCGAATCGAGTTCTCCTG
CAGGCGCTGCAGATTTTGGTGTATCCTGGGGTGGGAGGCTCCGGCTCTGTCAGCTGCCGCTGCC
CTCTCGGAGCTAAAAGATACCTACTTACAGATAATGTGGTGAAATTAAAAGAATTTCAACAAAA
GAAAGTGGCTGTTGCATGTAATCTTTCTGGCACTAAAGGTGCTTTGCAAGTATTGATAGAGATG
AAAAACCAAGATGTGAAGTTCACCAAAGATACCTATGTTCTTGCTTTTGCAATTTGCTACAAAC
TGAATAGCCCTGAGTCTTTCAAAATCTGTACTACATTAAGAGAAGAAGCTCTACTCAAAGGAGA
AATTCTCTCCAGGAGAGCATCCTGTTTCGCTGTGGCATTAGCTCTGAATCAGAATGAGATGGCA
AAAGCTGTGTCCATTTTTTCTCAAATCATGAATCCAGAAAGCATAGCCTGCATTAATTTAAATA
TTATAATCCATATCCAGTCAAATATGTTGGAAAACCTGATAAAGACTCTAAAAAATGCTGCAGA
AGGAAATTTATCAAAATTTGTGAAAAGACATGTGTTCTCGGAGGAAGTGCTGGCCAAAGTGAGG
GAAAAAGTGAAGGATGTGCCTGCCCTTGTGGCCAAATTTGATGAGATCTATGGGACACTGCACA
TCACTGGCCAGGTCACCACTGATTCTTTGGATGCTGTGCTCTGCCACACCCCCAGGGACAGGAA
ATCTCACACGTTGCTATTAAACAAGAGGATGGTCAGCCGTCGCACCTTCCAGCCACTCAGCCAG
TCCCTGTTGGCTGAGTAACCCTGGTTTCAGTCCACCTATGGATCTGAGGGGCCTGCTTCTAGTG
AGTTATTACCTTTCCTAAGAAGCCAGGTATCGCACTTCAGCAGACAGTGTGCTGACACTTGGTC
TTCTCCTGAAATTCCCAAATTCACTGAATGGTACCATGCCGATCTCTGAGAAGTTATGTTGCAC
CACTGTGAAGGTCTAGATGCAAGCTTGGCTCCCTCAGAAAGGCGCTTCCCTTTTGCATGGCTGA
GGATCCTTGAAGGAACCTGGTCAGTCTCCGGTTCAGCTTCCGACACCAGAGTGGAACCCAGTAA
GCACCATCAGGAATGAATTTCACTACAAGTGTGGATAACTCTGATTTTCAAAGGAGTAGTTACT
TGCAAATTACATCCTTGCTGAATTCAGGAGGTATGAAACCCTATTTTACCATGTTAGAAAACAG
CCCAGGATTTTCTCATTGCTCTGCCATCATATATGTCTATGACTTGAGCCCTTATTTTTCCATC
TGCAAAACAATAATGCCTATGTGTCTTTGCATATAGATTTGAAATCTTCATTCAAGGTTTAGTA
GGATCATATTTTCTCAAAAATAAGAGAAATAAGGTTCATAAGGAAACTTGCTGGGATTGTGGTT
GTTTTGTTTTCTCAGCAGCACAAACAAAACCAGAATTTAGCCTTTAGGACTGCTGAGTAAGCCA
AATTTAAATGACTACTGCTTTGTTCATGGGTAAGCCATGTGCTTTTCAAAATAAGTGCCACTAA
AAACCACATAATGCTTTGGTTTCTATGTGGATAATAAATATTTAGTCCTATAGTTTATCTTATT
TGTTAATGATTTTTCTCTCTTGAATGCCTCATATTAAAAAAAAATGTGCCATGAGAGCAGTTCA
AAGCTGCTTCATACTTATGGTCTCAAATATAGTATGTGTTGAATTTTACCGTGTCTGGTCACCA
GTGAGCAGAAGATACACAGTGACCCCACCTCACTTGCTCCTTTTGTTTCAGAAAGCCCAGAGGG
TTGCTCAGACCTCAGGAGCTGTCTGCCAAGATTGCTGCAGACTCTTCATTGCCACCTCCAAAAC
TAAGACTGTTCACTTGGTTGTTGTTCTAAGGCAAGGATTATAGAGTCAGAAATTGTAGACTAGG
AGAAGTCTTCTGAGTCTCCTAATTAATTCCTTCATCTTTCAGGTTAAGGAAACGATCCATGCAA
GAGAGGCCCAATCTCAACTGTAGACTGTGTCCCAGTAAGAGAGTCACAGCTTCAGGTGTTTGCT
GAATCCAGGTCTGAGATCACAATCCCACCTGAGGACAGGATCCGCATATGAGAGTCGCACATTG
GTATAATTGATTTGTGGTAGAGCTGAGATTAGAATCCAGATTCCTAGTCTAGTATCCTTCCCAC
TGTACCACATTATCTCTTTTCAGAGGGGAAAAAGGAGCAGCTCTTAAGAAACAGAATACTAAGG
GCCCCCATTACTGTGTGGCCCTGGGCATCCTCAGTTTCCTCATTTGGTAAATGGGGATAATGGT
ACCGACCTCTTAGGCTTGGTGTGAGGATGAAATGAGATAGGGAATATAAAGCAAGCAGATAGTG
GCTGGCACATAGTACATGCAATATGTTTGAAACTAGTTAAGGAATTATAAAAACAAATGAGTTC
TTCCTTCTGCTCAAAAATATTGAATTTCTTGTCCTTGTGCTCTGTGAAACATTGAACAGCCCCA
TTTAGAGAAACAAATTCTCTGCCCTCATAGAATCCTAATTGTTTCTGTATGTGTCTGGTGTTTT
GCACATGCAAAAAAAAAAAAAAAAGTGCTTGGATTTCTCCACTTTCAGTCTTAGGGAATAATAG
GGCATGCTTCCTGTCCCCCCAGCTTACTTTTCATCTTCTCCAACTCTCACAGTTCAAATGGCTC
CAGTGCTGTGGGTGAGTGTGGCCTTGGTTGTTAGCTAACAACCATTCATTAGCGAAATAACCAA
ATTTTGTGAGCAGTAAATAGCAACAAGCTTCCCAATCCCTGCTGCCCAGCCGACTGGAAAAACT
GGTCCATTCCACCTGTTCCCAGAAACCTCAGTACAGAGGTAGCTATATGCATAATGTTCACCCC
AAAGTAATAGATGATTTTAAAGTCTTAAAAGTCCAATAAAACAGTGTTCAGTATAGGTTATGAT
AGGCATTTCATTCTTTAAAACTCAGTAATTCCTTTGAAAAAATGATGTTTCTTTATAAGCAGTA
GTTTGCCTACATCATTTACTTGTTTTTTTCTGCTTTGGGGTTTTTTTTTTTTTGAGACACAATT
TCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACTTCTGCCTCCT
GGGTTCAAGCAATTCTCATGCCCCAGCCTCCCAAGTAGCTGGGAATACAGTTGTGTGCCACCAC
ACTGGCTTATTTTTTGTATTTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCT
CTAACTCTTATCCTCAAGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATG
AGCCACCGCACCTGGCCTACTTATCCTGTTAATGAAAATATTTGATTGGACAGAACATCTTATT
CCTTAACTCTGTTATGTGCTTTTGTAGATTGTTTTTACTTACTGTAGATATCTGTTGCTCCAGA
GTCCCAGAAATCAGTATGATGAGTTCAGCACAGTTACTAGAAGGAGACAAAAAGATATCTTCTT
AATTAGGTGATATCAGGGATAGTTCTGGTTATTGATTGCTGTGTGGAAAACACTCCAAAACTCA
GTGACTTTAAACAACACCAGTCATTGTGTTATTTCTCATTATCCTAAGTACTGACTGGGCTCAG
CCAGACAGTTCTTATTCGGGTTCTCATGCAGTTATAGTCATCATCAGATTGTGGCCGCGACTGG
CATAATCTCAAAGGCTTCCTTAGTATTTCTGGCAGTTGATGCTAGGACCTCAGCTAGTGCTGGG
GCTGGAACATGTCTACACATAGCTTCCCCACAGCATGGTGGCTAGGTACTAGGAGTGACTGTCC
CAAGAGGACCAGGCAGAAGCAGTTACATTTTATGACCTAGTCTCAGAAGTCTCATAACATCACT
TCCACTAAAGTCCCAAGCCCCCCCAGATTCAAATGGAGGGAGCATATATCCCATCTCAGTGGTA
GGAATTTCAAAGAATAAATTCTGTGAAACTGTAGTAGATAGTCTGTTTTCTCCCCTGTTTAAAA
CCTCCTGAGGACCTCACATGCTTCTGGATAAAGCTCAGGCTCTTCAACATGGTTTAGAAGGTCC
TTCCTAATCTGGCCCACATTTGTCCATCCAGCTCCAACTCTTGCTACTCTACGCCCCTCTTCCC
CTCTTGTGGAATGGCTAATTCCTACTCATCATTCAGGTCTTGGCTTAGACATCTTTTCATCTGA
GAAGGCTTTCTGGTCTAGTCTCACCTGGTTAGGTGAACTCCCCATGTGCCCCATGTACCTCATT
TATCAAAGTGCTTATCATATGCCTGTCACTGTCTGTTTTCTTCACTAGACTCAGGTGCCATGTC
TGTCCTTTCTGCTCTGTTTGCTGGGTGCCTAGCATGGTAGGGGATGTATCAGAGGATTAGTACT
TATTTAACTCACCAGCTCATTTAACTATATTGTATAACAATGTTGGTGGTCATATTGGTCCCCC
ATGGACAGCTTTTCGTCTCTAATACCATACACTCAGTGCAGGGTCTGAATGTCCCCCCAAACTC
ATATGTTGAACTCCAAATCCCCAAGGTGTTGGTATTAGATGATGTAGCCTTTGGGAAGGAATTA
GGGTGGTGCCCTCATGAATGGGATTTGTGTCATTATAAAACAAGCCCAAAGAAATTTGGTCACC
CCTTCCTTTAAGCGAGGTCATGGCAAAAAGACGCTGTCTATGAACCAGAAAATGGGCTCTCACT
AGACACCAAATGCTGGTGTCTTGTTCTTGGATTTCCCAGCCTTCAGAACTGTGAGAAATATATT
TCTGTTATTTATAAGCCACCCAGTTTTTGGTATTTTGTTATAGCAGCCTGAAGAGACTAAGACA
GCCAGTCCCAACCTTCCACATTTAGACCTGACTCCAAGTTTTGCTCAGCCCACTGTGTATCCCT
TCCTCCTCCCAACCAAAGTGTCCCCACTCTTTCTCTATTCTGTTCTGCCTATTATTCAAGGTCT
AACTTGTGTCACTTTTTCAATGAGGCATTTGCAAGCTCTTTAAATTCTCAAGGATTCTCCATTA
ATTCACCATATCTATTTTGAGAATCTACAAAGGACAAGGCACTACGAAAGACTCTACATGCCAC
AGGGAAAAGACAGACAAGATCTCTGTCCCAACACAGAAAATTTTAGCCTGCCATGTTGACTCCC
AGGGATCTTTTTGTTTCTGTAGGAGGTGCTCATTACAGAGTGGCCAAATTCCTACTGAAGAATG
GACTTGGTTGTGAAATAAAACAATCCTGGGCAATATTTGTTGATAGTTTTGTTGAGGATGATTC
AGGAAATAAATACAAACTTTTAACTACTCATAATGAATATTGTTGGGATATTATAATGAGGAGG
TAAGGATTTACCTGCTACAATTTGGGTAGGCAAAAATGTAGGCTTCTCTGTTTCTTTGCAGTGA
ACTAAAACTTCTTATGAACTCTGGTTATACTGAAAACAGGAGTCATGGGAGACTTGATCTTGCT
TAAAGGATATTTTAGTCTTTGATTTCTTTGAGGTAAATGTTCAATCTTTTTGCGTATCTTCCTC
CTACCTTTTCATAGCCAAGATGACAGCTGAACAGGCTCTCATCTTAAACCTGAACAGGCATCAG
AATCACTTGGAGAGCTTGTTAAAATACAGATTGATGGGCCCCACCCCCAGAATATCTGATTCCA
TACATATGAGTCAGGGCCCAAGAATTTGCATTACAAATGCATTCTCAGATGATGCCTTTGCTAG
TCTGGGCAACACACTTTAAGAATAGTTGGTATAACAGAAAGCTTGTGTGTCTTGTGTGTCTATG
TGGACAGGAGTTGTGGGCTTCAGATTCATCCTCTGTGTCCTCTGGTCTCAGTTGTGAGGAGGGG
GAAGAGTGGGAAGTCTGGCCTTGTCTCTGGACTCCTGAGTAAATAATGTGCTGATGCAGTGTTG
GGCCCAGCAGGCCTTTTAGAGGGTCATGCCAGCACCCACTGCTGAGGTCTGTAGTCTCTACCAT
CTGCCCTACACATAATAAGTACCCTTCCTCTGCTATTCTCTCTTGCTGACCCCAAGCCCACCAA
TGAATTAATTGAATCAAGAGTTCCAAGGCATTAGGTTAAAGACATTGAAAAATATATCCATTTA
TTTTTTCAAATATACATAAAGAAATCCATACAAACTAAGGCCAATTGTGGCAAAACTACATGAG
ACTTGACTAAAATAACCCACAATTCAAATTTCCTTCATAACATTTCTACCTATAAATTTGATTC
AGAGAAATTACACTTCATAGATAAACTAGCCATAAAAAAGATTACAGCGGCAAAAGCTATCATC
AGTAATATTTGATATGCATAAGAAACCGTGAGGAACCAAATCATGGTAAAATTGATTCTAAGGA
AATGGTTGCACAAAAATAAAAGTGAAATGGTATTTTTTAAAAGGAAGTGGTTCAACTGTATTGC
ATAGAAAATGAATCAAGGAATTACATTGGCTTAAATGGCATTAGCTCAAAAAAGTGTTCTCAAA
AATTAATGGAAATTGGTGTATTCTGATTGAGATATGTTTTATTCAATAACATGGAGTCAAAACA
AGAAGATTTTTTAAATGTCCTCTGTTCCCATGGAGCTTGCATTCTGCAAGAGCAACAGACATCA
AAAAGATAACTGGGCAAATGACCACATGATTGCAGTTGGGATAAGTGCTAAGTCTAGGGTAATC
TTCATATCACCCTGTGGCATGTATAAAGGAAGACCTTTTGCTGGTGTTTTGTAAAACCAGTTGT
CTGTGTCATTTATTTTAACATGTAAAGTACACTGCCTTGTATTGTTACAGATCTTTTTCTCCAT
ATCCGGTCTCTCCTGAAGAACAGAGTATTCTACATTTGTTTTATATGACCCCAAGGTGCTTATG
TAGCATATTATTTATACATCTAATGAGGTCTTAATATTTTTTGAAAGAGTGATTTCATTAATTA
ACGGCAGATTTTAGTTAATATGTACAGTCTGCCACAATATACTTTAGGCATTTCACAGTTTTCT
CATAAACTGGTTGCTGTTTCTGTCCCGGTTTTACACATGACAGAGCCAAGACACAGACAAGTAG
AATGACTTGCCTGTGCGGGGGTCCTGGGTTGGCCAGTGCATTCATGTACTGGACCAGGGCCCCT
GTATCTTGCAGTAATGTATCCGTGGGCGTTTCCCCCCAGACATTCGAAGCACACAGCTAATCTG
AGAAAGAAGTGATTTGGCGAGGGGTTGGGGGAGTAGGCGGTGGGCACAACGGTTCCAGGTGACT
TTCAAGTTGCTAATGAAAGAGGATCAAAGCGCTGCTGAACTGCTCACCTCCCCGCTTGGCCTGC
CTTGCCCAGCTGACTTTCTTCCAAGGGCCTCAGAGGCAGCATTACCACAGGCATTAAAGATGGG
GATGGGGAAAGAAGGCCCAGAGGGAAAGGGAACCACATGCTTACCTGCTAATCACTGCCCTGCA
GCTGAAACACTGCAGAGCTGGCTGCTCTGGGATAGGAGAGGAAGGCCTCATTTAATCAGGAGAA
GAAAGAGAACCAGGGGCCTCTGAGATGGCCTGCAAGGCATCACGGTCTGTGAACTGGTCTGTGA
ACTGCGGGCCTGCCTGGAAATGCATTGTCAGAGTAGAGTGATGCTTTCTTTGTAAATCCCTTGT
CTTCCCTGATTCCTTTTTCCTGACTGAATCAGGCCAAGATGCTCACCCAGAAGAGCACAGCATC
ACCCTGTCTTTCAATCCCCAAAGTAGCCCTTACCCCTAGACAGCAACATCATCTGTTACAATTG
ACAGCATGAAGGAAGGCATAACCCCTGCAAAGTGACTGCCCTACAACTCAATTTGATTTTGAAT
CCGCAAGTGCAAGTCTCATTCCTGGTAACTAATAGTAACAGAATCTGCTGATGTATTCTACCGC
ATCCCAGGGAGACTCATGTAGCCATGAAGACTGAAGAGGATTAAGTTAACCTTCCATTTTATAG
CTGCAAATTACTGGGTTGATGTCAGGTAGGGTGAGGAGTATGTTCCGGTTATAGCTGGTAGCAA
GATGGCTGCATGCATCATGAGGCTTTGGCCTAAAAAGCTTGTCATTATATAAAAAAGCTATAGA
GAGCAGAGAAAATGTCATTTCCAATTTAGAAGATCATAATCGATTTTTAACACATTGGTCCTTA
GGTGATACAGAATTCAACAAAAACGGGGCTTATAAAAAGCCAGGGTTCATAAAATTACAAAGAT
TATAGACAAAAATAGATAACATATAAGACTTACCAGCTGGGCAAGGTAGCTCAAGTTTGTAATC
CCAGCACTTAGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGGGTTCTAGACCAGCCTGGC
CAGCATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCGGGCA
TCTGTAATTTCAGCTACTCAGGAGGTTGAGACGGGAGAATTGCTTGAACCTGGGAGACGGAGGT
TACAGTGAGCCTAGACTGCGCCATTGCACTCTAGCCTAGGCGACAAGAGCGAAACTATGTTTCA
AATAATAATAATAATAATAAGACTTACCATTTGCCAGGTCCTGTGCAAAGCACTTTATCTCATT
TGATCCCTGGGAAACCCCATAAAGTACTATTATGCCATTTCTCAGATAAAGAAACTGAAGCTCA
GAGACGTTTAGTTGCTTGCCTGTGGATATAACACTAGAGAGCGGGAGAGCACAGTATTTGAACC
CAGGAGGTCTGATGCTGGAGGTCATGTTTTTAACCTTATCTCTGTATTGCCTGCCCAAGTGCTG
GCTGTGTGCATGTATTCTCAATAATCCCTGGCCAACTTCCTGCTTTGCTGTCAGTAGCAGAGCT
GAAGAACTTACAATAGACGGCAGAGGGCGTCCAGAGTCACTATTTTTAAAAGGTGCTAGTTTTC
AAAAGCATTTCTGGAATTCAGAGAGAACAGAGGTCCACATAGCAGGCTAGACAGGAAAGGTAGC
TGTAGATAGACTTTAGGGAGTATATAGAATATTGCCTTCACGCAGGTTAAGAAATATTTAGTGT
TGAAAGGATACTTTTAAAAGAGAGAAAGCAGTAAAGTTGATCCTCTGCAGAAAGTAGACCAATG
TAAGTATCATGCAATGTGTCCATGTGCGTGTACACGTGAGCACACATGCACACACACATTAGAT
GTTTTGTGAGAAAACATACACTCAGTTTCTTATGAAAGAAAAAGGATGGTCATTTGTCTCACTT
GGGAAAGGGTTTCCTCCCAAATTGAGAAGGAAAATCCCCCCAATTAACTGTTTGCCTTTATTAA
CTAAAATCACATTTGTGTGTGAAAGAAGTAAAAAGGAATTAGGATCTTGGTTATTTTGATTGTC
TCTCTACCCTTCCAGATTCATCAAATGATAGTCAACCTTACTGTCTCTTCCTGCCATCATCAGG
AATGACTAAATCTTGGAGCGTTCTCCATTTAAGTGAGGGAAATGTTGGATTCCCGGTGTATTTA
TCACTGCCCATCTCTAAGAATAGGTCAAAGATGAAATTCCCATTATCATGAAACTTTAATATAT
ATTGAGACTTCACAGAGCACTAACTATACTGGGGCTGGGATGGGGATTCTGATGAGAGATATCC
CTGACAGAGACCAGAGCTCAGGAGGAAGAAAGGACAGATGCCCTTGTTCAAGATGACTTCTTCA
TGGGCATCGATAGATACATTCTTGAAAACCACCCAAAGTACCTAGAGGAGACCCTAGTGCAACT
GTGCATTGTACAACAACTGATGAGGTAAAAGAAACAAACTGTTAATGACTCTAAACAATGTGGC
CCACAGAGTTGGTATGGTTTGGCCACACCAGCTCAGGGATAAAGGTACTAGAAAAAATCTTGGG
GAAAATCCTATTGTACATATTCCTTACATAATGTCTGTGATTTACCTCACTTATCAAATGAAAA
AAACCCAAAACACCTGGTTGATGGCCATTTGGTCAAACACCTCTAGGAGTCTGGAGTTGAGTGG
CCAGAACTCAGTCTTTCTTTACATGCTGTGTTAAGCAGGCTTTTATCTCATTCAGGTGTTAGAA
GTGGAGGGAGGAACACAGTTAGGCTGTGTTCTACTGCACTGCATAGGGAGGCAGGGTATCACCC
AGGCACAACGCCCACTTTGCAAGTAAATAATCAGTAGCATGAAGCTCACTTCTGCAGGACCCAC
CATGACAAAGTGGAGAGCTGGGCGGTTAACCAGTGAACCAATTGAGTGGCTCTGGGCTCCTATA
CCCCTTTCATTCCACAGCCTGTGATACACCCTTAGAGTCAAAATATCAAATTCAGTGGGCCATG
AGTCTTGCCCAAAAGTATAAATCTTTTTTTCATATGGACTATTTGGGTCTATTTTCAAAAATCC
CTTTTTCTTCTCTAAACTATCTCAATTCCACATTTCACTTTGCAGGTGTAGACATGACTTTTAG
GTTGTTGATGATTTAATGCTATTGAAATGTTCTTATATGCAAAACACCTAGATAGATGCAGAGT
GTGGGACAAAGACAACCAGCACATTGCTAAGCCCAAGTAGCAAATTTCCTGACCCCATTTTAAA
GGTTCTGAGACAGATAGGCGGAATAGGTCCCCCTGTCTTTGAGTAGAAGAGTTGGCAAGCAAGC
TGGACTAAATGGGCCATGTGCAATTTTGCTGTCTGTTCACATTTCAAATAAACTAATGTGTTAT
GA

hide sequence

RefSeq Acc Id:

NM_001284404 ⟹ NP_001271333

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	72,320,373 - 72,368,395 (+)	NCBI
HuRef	5	66,821,943 - 66,860,941 (+)	NCBI
CHM1_1	5	71,048,869 - 71,087,855 (+)	NCBI
T2T-CHM13v2.0	5	72,801,543 - 72,849,569 (+)	NCBI

Sequence:

show sequence

AGTAGTTGGTATGGTCCGAGACAGTATGGCTGCTGCATTTCGGCCCTCGAATCGAGTTCTCCTG
CAGGCGCTGCAGATTTTGGTGTATCCTGGGGTGGGAGGCTCCGGCTCTGTCAGCTGCCGCTGCC
CTCTCGGAGCTAAAAGATACCTACTTACAGATAATGTGGTGAAATTAAAAGAATTTCAACAAAA
GAAAGTGGCTGTTGCATGTAATCTTTCTGGCACTAAAGAAACGTATTTTAGAAACTTGAAAAAG
AAACTGACCCAGAACAAGCTCATCTTGAAGGGGGAGTTGATAACCTTACTACATTTGTGTGAGT
CTCGGGACCATGTGGAACTGGCTAAAAATGTCATTTACAGGTGCTTTGCAAGTATTGATAGAGA
TGAAAAACCAAGATGTGAAGTTCACCAAAGATACCTATGTTCTTGCTTTTGCAATTTGCTACAA
ACTGAATAGCCCTGAGTCTTTCAAAATCTGTACTACATTAAGAGAAGAAGCTCTACTCAAAGGA
GAAATTCTCTCCAGGAGAGCATCCTGTTTCGCTGTGGCATTAGCTCTGAATCAGAATGAGATGG
CAAAAGCTGTGTCCATTTTTTCTCAAATCATGAATCCAGAAAGCATAGCCTGCATTAATTTAAA
TATTATAATCCATATCCAGTCAAATATGTTGGAAAACCTGATAAAGACTCTAAAAAATGCTGCA
GAAGGAAATTTATCAAAATTTGTGAAAAGACATGTGTTCTCGGAGGAAGTGCTGGCCAAAGTGA
GGGAAAAAGTGAAGGATGTGCCTGCCCTTGTGGCCAAATTTGATGAGATCTATGGGACACTGCA
CATCACTGGCCAGGTCACCACTGATTCTTTGGATGCTGTGCTCTGCCACACCCCCAGGGACAGG
AAATCTCACACGTTGCTATTAAACAAGAGGATGGTCAGCCGTCGCACCTTCCAGCCACTCAGCC
AGTCCCTGTTGGCTGAGTAACCCTGGTTTCAGTCCACCTATGGATCTGAGGGGCCTGCTTCTAG
TGAGTTATTACCTTTCCTAAGAAGCCAGGTATCGCACTTCAGCAGACAGTGTGCTGACACTTGG
TCTTCTCCTGAAATTCCCAAATTCACTGAATGGTACCATGCCGATCTCTGAGAAGTTATGTTGC
ACCACTGTGAAGGTCTAGATGCAAGCTTGGCTCCCTCAGAAAGGCGCTTCCCTTTTGCATGGCT
GAGGATCCTTGAAGGAACCTGGTCAGTCTCCGGTTCAGCTTCCGACACCAGAGTGGAACCCAGT
AAGCACCATCAGGAATGAATTTCACTACAAGTGTGGATAACTCTGATTTTCAAAGGAGTAGTTA
CTTGCAAATTACATCCTTGCTGAATTCAGGAGGTATGAAACCCTATTTTACCATGTTAGAAAAC
AGCCCAGGATTTTCTCATTGCTCTGCCATCATATATGTCTATGACTTGAGCCCTTATTTTTCCA
TCTGCAAAACAATAATGCCTATGTGTCTTTGCATATAGATTTGAAATCTTCATTCAAGGTTTAG
TAGGATCATATTTTCTCAAAAATAAGAGAAATAAGGTTCATAAGGAAACTTGCTGGGATTGTGG
TTGTTTTGTTTTCTCAGCAGCACAAACAAAACCAGAATTTAGCCTTTAGGACTGCTGAGTAAGC
CAAATTTAAATGACTACTGCTTTGTTCATGGGTAAGCCATGTGCTTTTCAAAATAAGTGCCACT
AAAAACCACATAATGCTTTGGTTTCTATGTGGATAATAAATATTTAGTCCTATAGTTTATCTTA
TTTGTTAATGATTTTTCTCTCTTGAATGCCTCATATTAAAAAAAAATGTGCCATGAGAGCAGTT
CAAAGCTGCTTCATACTTATGGTCTCAAATATAGTATGTGTTGAATTTTACCGTGTCTGGTCAC
CAGTGAGCAGAAGATACACAGTGACCCCACCTCACTTGCTCCTTTTGTTTCAGAAAGCCCAGAG
GGTTGCTCAGACCTCAGGAGCTGTCTGCCAAGATTGCTGCAGACTCTTCATTGCCACCTCCAAA
ACTAAGACTGTTCACTTGGTTGTTGTTCTAAGGCAAGGATTATAGAGTCAGAAATTGTAGACTA
GGAGAAGTCTTCTGAGTCTCCTAATTAATTCCTTCATCTTTCAGGTTAAGGAAACGATCCATGC
AAGAGAGGCCCAATCTCAACTGTAGACTGTGTCCCAGTAAGAGAGTCACAGCTTCAGGTGTTTG
CTGAATCCAGGTCTGAGATCACAATCCCACCTGAGGACAGGATCCGCATATGAGAGTCGCACAT
TGGTATAATTGATTTGTGGTAGAGCTGAGATTAGAATCCAGATTCCTAGTCTAGTATCCTTCCC
ACTGTACCACATTATCTCTTTTCAGAGGGGAAAAAGGAGCAGCTCTTAAGAAACAGAATACTAA
GGGCCCCCATTACTGTGTGGCCCTGGGCATCCTCAGTTTCCTCATTTGGTAAATGGGGATAATG
GTACCGACCTCTTAGGCTTGGTGTGAGGATGAAATGAGATAGGGAATATAAAGCAAGCAGATAG
TGGCTGGCACATAGTACATGCAATATGTTTGAAACTAGTTAAGGAATTATAAAAACAAATGAGT
TCTTCCTTCTGCTCAAAAATATTGAATTTCTTGTCCTTGTGCTCTGTGAAACATTGAACAGCCC
CATTTAGAGAAACAAATTCTCTGCCCTCATAGAATCCTAATTGTTTCTGTATGTGTCTGGTGTT
TTGCACATGCAAAAAAAAAAAAAAAAGTGCTTGGATTTCTCCACTTTCAGTCTTAGGGAATAAT
AGGGCATGCTTCCTGTCCCCCCAGCTTACTTTTCATCTTCTCCAACTCTCACAGTTCAAATGGC
TCCAGTGCTGTGGGTGAGTGTGGCCTTGGTTGTTAGCTAACAACCATTCATTAGCGAAATAACC
AAATTTTGTGAGCAGTAAATAGCAACAAGCTTCCCAATCCCTGCTGCCCAGCCGACTGGAAAAA
CTGGTCCATTCCACCTGTTCCCAGAAACCTCAGTACAGAGGTAGCTATATGCATAATGTTCACC
CCAAAGTAATAGATGATTTTAAAGTCTTAAAAGTCCAATAAAACAGTGTTCAGTATAGGTTATG
ATAGGCATTTCATTCTTTAAAACTCAGTAATTCCTTTGAAAAAATGATGTTTCTTTATAAGCAG
TAGTTTGCCTACATCATTTACTTGTTTTTTTCTGCTTTGGGGTTTTTTTTTTTTTGAGACACAA
TTTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACTTCTGCCTC
CTGGGTTCAAGCAATTCTCATGCCCCAGCCTCCCAAGTAGCTGGGAATACAGTTGTGTGCCACC
ACACTGGCTTATTTTTTGTATTTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGT
CTCTAACTCTTATCCTCAAGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCA
TGAGCCACCGCACCTGGCCTACTTATCCTGTTAATGAAAATATTTGATTGGACAGAACATCTTA
TTCCTTAACTCTGTTATGTGCTTTTGTAGATTGTTTTTACTTACTGTAGATATCTGTTGCTCCA
GAGTCCCAGAAATCAGTATGATGAGTTCAGCACAGTTACTAGAAGGAGACAAAAAGATATCTTC
TTAATTAGGTGATATCAGGGATAGTTCTGGTTATTGATTGCTGTGTGGAAAACACTCCAAAACT
CAGTGACTTTAAACAACACCAGTCATTGTGTTATTTCTCATTATCCTAAGTACTGACTGGGCTC
AGCCAGACAGTTCTTATTCGGGTTCTCATGCAGTTATAGTCATCATCAGATTGTGGCCGCGACT
GGCATAATCTCAAAGGCTTCCTTAGTATTTCTGGCAGTTGATGCTAGGACCTCAGCTAGTGCTG
GGGCTGGAACATGTCTACACATAGCTTCCCCACAGCATGGTGGCTAGGTACTAGGAGTGACTGT
CCCAAGAGGACCAGGCAGAAGCAGTTACATTTTATGACCTAGTCTCAGAAGTCTCATAACATCA
CTTCCACTAAAGTCCCAAGCCCCCCCAGATTCAAATGGAGGGAGCATATATCCCATCTCAGTGG
TAGGAATTTCAAAGAATAAATTCTGTGAAACTGTAGTAGATAGTCTGTTTTCTCCCCTGTTTAA
AACCTCCTGAGGACCTCACATGCTTCTGGATAAAGCTCAGGCTCTTCAACATGGTTTAGAAGGT
CCTTCCTAATCTGGCCCACATTTGTCCATCCAGCTCCAACTCTTGCTACTCTACGCCCCTCTTC
CCCTCTTGTGGAATGGCTAATTCCTACTCATCATTCAGGTCTTGGCTTAGACATCTTTTCATCT
GAGAAGGCTTTCTGGTCTAGTCTCACCTGGTTAGGTGAACTCCCCATGTGCCCCATGTACCTCA
TTTATCAAAGTGCTTATCATATGCCTGTCACTGTCTGTTTTCTTCACTAGACTCAGGTGCCATG
TCTGTCCTTTCTGCTCTGTTTGCTGGGTGCCTAGCATGGTAGGGGATGTATCAGAGGATTAGTA
CTTATTTAACTCACCAGCTCATTTAACTATATTGTATAACAATGTTGGTGGTCATATTGGTCCC
CCATGGACAGCTTTTCGTCTCTAATACCATACACTCAGTGCAGGGTCTGAATGTCCCCCCAAAC
TCATATGTTGAACTCCAAATCCCCAAGGTGTTGGTATTAGATGATGTAGCCTTTGGGAAGGAAT
TAGGGTGGTGCCCTCATGAATGGGATTTGTGTCATTATAAAACAAGCCCAAAGAAATTTGGTCA
CCCCTTCCTTTAAGCGAGGTCATGGCAAAAAGACGCTGTCTATGAACCAGAAAATGGGCTCTCA
CTAGACACCAAATGCTGGTGTCTTGTTCTTGGATTTCCCAGCCTTCAGAACTGTGAGAAATATA
TTTCTGTTATTTATAAGCCACCCAGTTTTTGGTATTTTGTTATAGCAGCCTGAAGAGACTAAGA
CAGCCAGTCCCAACCTTCCACATTTAGACCTGACTCCAAGTTTTGCTCAGCCCACTGTGTATCC
CTTCCTCCTCCCAACCAAAGTGTCCCCACTCTTTCTCTATTCTGTTCTGCCTATTATTCAAGGT
CTAACTTGTGTCACTTTTTCAATGAGGCATTTGCAAGCTCTTTAAATTCTCAAGGATTCTCCAT
TAATTCACCATATCTATTTTGAGAATCTACAAAGGACAAGGCACTACGAAAGACTCTACATGCC
ACAGGGAAAAGACAGACAAGATCTCTGTCCCAACACAGAAAATTTTAGCCTGCCATGTTGACTC
CCAGGGATCTTTTTGTTTCTGTAGGAGGTGCTCATTACAGAGTGGCCAAATTCCTACTGAAGAA
TGGACTTGGTTGTGAAATAAAACAATCCTGGGCAATATTTGTTGATAGTTTTGTTGAGGATGAT
TCAGGAAATAAATACAAACTTTTAACTACTCATAATGAATATTGTTGGGATATTATAATGAGGA
GGTAAGGATTTACCTGCTACAATTTGGGTAGGCAAAAATGTAGGCTTCTCTGTTTCTTTGCAGT
GAACTAAAACTTCTTATGAACTCTGGTTATACTGAAAACAGGAGTCATGGGAGACTTGATCTTG
CTTAAAGGATATTTTAGTCTTTGATTTCTTTGAGGTAAATGTTCAATCTTTTTGCGTATCTTCC
TCCTACCTTTTCATAGCCAAGATGACAGCTGAACAGGCTCTCATCTTAAACCTGAACAGGCATC
AGAATCACTTGGAGAGCTTGTTAAAATACAGATTGATGGGCCCCACCCCCAGAATATCTGATTC
CATACATATGAGTCAGGGCCCAAGAATTTGCATTACAAATGCATTCTCAGATGATGCCTTTGCT
AGTCTGGGCAACACACTTTAAGAATAGTTGGTATAACAGAAAGCTTGTGTGTCTTGTGTGTCTA
TGTGGACAGGAGTTGTGGGCTTCAGATTCATCCTCTGTGTCCTCTGGTCTCAGTTGTGAGGAGG
GGGAAGAGTGGGAAGTCTGGCCTTGTCTCTGGACTCCTGAGTAAATAATGTGCTGATGCAGTGT
TGGGCCCAGCAGGCCTTTTAGAGGGTCATGCCAGCACCCACTGCTGAGGTCTGTAGTCTCTACC
ATCTGCCCTACACATAATAAGTACCCTTCCTCTGCTATTCTCTCTTGCTGACCCCAAGCCCACC
AATGAATTAATTGAATCAAGAGTTCCAAGGCATTAGGTTAAAGACATTGAAAAATATATCCATT
TATTTTTTCAAATATACATAAAGAAATCCATACAAACTAAGGCCAATTGTGGCAAAACTACATG
AGACTTGACTAAAATAACCCACAATTCAAATTTCCTTCATAACATTTCTACCTATAAATTTGAT
TCAGAGAAATTACACTTCATAGATAAACTAGCCATAAAAAAGATTACAGCGGCAAAAGCTATCA
TCAGTAATATTTGATATGCATAAGAAACCGTGAGGAACCAAATCATGGTAAAATTGATTCTAAG
GAAATGGTTGCACAAAAATAAAAGTGAAATGGTATTTTTTAAAAGGAAGTGGTTCAACTGTATT
GCATAGAAAATGAATCAAGGAATTACATTGGCTTAAATGGCATTAGCTCAAAAAAGTGTTCTCA
AAAATTAATGGAAATTGGTGTATTCTGATTGAGATATGTTTTATTCAATAACATGGAGTCAAAA
CAAGAAGATTTTTTAAATGTCCTCTGTTCCCATGGAGCTTGCATTCTGCAAGAGCAACAGACAT
CAAAAAGATAACTGGGCAAATGACCACATGATTGCAGTTGGGATAAGTGCTAAGTCTAGGGTAA
TCTTCATATCACCCTGTGGCATGTATAAAGGAAGACCTTTTGCTGGTGTTTTGTAAAACCAGTT
GTCTGTGTCATTTATTTTAACATGTAAAGTACACTGCCTTGTATTGTTACAGATCTTTTTCTCC
ATATCCGGTCTCTCCTGAAGAACAGAGTATTCTACATTTGTTTTATATGACCCCAAGGTGCTTA
TGTAGCATATTATTTATACATCTAATGAGGTCTTAATATTTTTTGAAAGAGTGATTTCATTAAT
TAACGGCAGATTTTAGTTAATATGTACAGTCTGCCACAATATACTTTAGGCATTTCACAGTTTT
CTCATAAACTGGTTGCTGTTTCTGTCCCGGTTTTACACATGACAGAGCCAAGACACAGACAAGT
AGAATGACTTGCCTGTGCGGGGGTCCTGGGTTGGCCAGTGCATTCATGTACTGGACCAGGGCCC
CTGTATCTTGCAGTAATGTATCCGTGGGCGTTTCCCCCCAGACATTCGAAGCACACAGCTAATC
TGAGAAAGAAGTGATTTGGCGAGGGGTTGGGGGAGTAGGCGGTGGGCACAACGGTTCCAGGTGA
CTTTCAAGTTGCTAATGAAAGAGGATCAAAGCGCTGCTGAACTGCTCACCTCCCCGCTTGGCCT
GCCTTGCCCAGCTGACTTTCTTCCAAGGGCCTCAGAGGCAGCATTACCACAGGCATTAAAGATG
GGGATGGGGAAAGAAGGCCCAGAGGGAAAGGGAACCACATGCTTACCTGCTAATCACTGCCCTG
CAGCTGAAACACTGCAGAGCTGGCTGCTCTGGGATAGGAGAGGAAGGCCTCATTTAATCAGGAG
AAGAAAGAGAACCAGGGGCCTCTGAGATGGCCTGCAAGGCATCACGGTCTGTGAACTGGTCTGT
GAACTGCGGGCCTGCCTGGAAATGCATTGTCAGAGTAGAGTGATGCTTTCTTTGTAAATCCCTT
GTCTTCCCTGATTCCTTTTTCCTGACTGAATCAGGCCAAGATGCTCACCCAGAAGAGCACAGCA
TCACCCTGTCTTTCAATCCCCAAAGTAGCCCTTACCCCTAGACAGCAACATCATCTGTTACAAT
TGACAGCATGAAGGAAGGCATAACCCCTGCAAAGTGACTGCCCTACAACTCAATTTGATTTTGA
ATCCGCAAGTGCAAGTCTCATTCCTGGTAACTAATAGTAACAGAATCTGCTGATGTATTCTACC
GCATCCCAGGGAGACTCATGTAGCCATGAAGACTGAAGAGGATTAAGTTAACCTTCCATTTTAT
AGCTGCAAATTACTGGGTTGATGTCAGGTAGGGTGAGGAGTATGTTCCGGTTATAGCTGGTAGC
AAGATGGCTGCATGCATCATGAGGCTTTGGCCTAAAAAGCTTGTCATTATATAAAAAAGCTATA
GAGAGCAGAGAAAATGTCATTTCCAATTTAGAAGATCATAATCGATTTTTAACACATTGGTCCT
TAGGTGATACAGAATTCAACAAAAACGGGGCTTATAAAAAGCCAGGGTTCATAAAATTACAAAG
ATTATAGACAAAAATAGATAACATATAAGACTTACCAGCTGGGCAAGGTAGCTCAAGTTTGTAA
TCCCAGCACTTAGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGGGTTCTAGACCAGCCTG
GCCAGCATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCGGG
CATCTGTAATTTCAGCTACTCAGGAGGTTGAGACGGGAGAATTGCTTGAACCTGGGAGACGGAG
GTTACAGTGAGCCTAGACTGCGCCATTGCACTCTAGCCTAGGCGACAAGAGCGAAACTATGTTT
CAAATAATAATAATAATAATAAGACTTACCATTTGCCAGGTCCTGTGCAAAGCACTTTATCTCA
TTTGATCCCTGGGAAACCCCATAAAGTACTATTATGCCATTTCTCAGATAAAGAAACTGAAGCT
CAGAGACGTTTAGTTGCTTGCCTGTGGATATAACACTAGAGAGCGGGAGAGCACAGTATTTGAA
CCCAGGAGGTCTGATGCTGGAGGTCATGTTTTTAACCTTATCTCTGTATTGCCTGCCCAAGTGC
TGGCTGTGTGCATGTATTCTCAATAATCCCTGGCCAACTTCCTGCTTTGCTGTCAGTAGCAGAG
CTGAAGAACTTACAATAGACGGCAGAGGGCGTCCAGAGTCACTATTTTTAAAAGGTGCTAGTTT
TCAAAAGCATTTCTGGAATTCAGAGAGAACAGAGGTCCACATAGCAGGCTAGACAGGAAAGGTA
GCTGTAGATAGACTTTAGGGAGTATATAGAATATTGCCTTCACGCAGGTTAAGAAATATTTAGT
GTTGAAAGGATACTTTTAAAAGAGAGAAAGCAGTAAAGTTGATCCTCTGCAGAAAGTAGACCAA
TGTAAGTATCATGCAATGTGTCCATGTGCGTGTACACGTGAGCACACATGCACACACACATTAG
ATGTTTTGTGAGAAAACATACACTCAGTTTCTTATGAAAGAAAAAGGATGGTCATTTGTCTCAC
TTGGGAAAGGGTTTCCTCCCAAATTGAGAAGGAAAATCCCCCCAATTAACTGTTTGCCTTTATT
AACTAAAATCACATTTGTGTGTGAAAGAAGTAAAAAGGAATTAGGATCTTGGTTATTTTGATTG
TCTCTCTACCCTTCCAGATTCATCAAATGATAGTCAACCTTACTGTCTCTTCCTGCCATCATCA
GGAATGACTAAATCTTGGAGCGTTCTCCATTTAAGTGAGGGAAATGTTGGATTCCCGGTGTATT
TATCACTGCCCATCTCTAAGAATAGGTCAAAGATGAAATTCCCATTATCATGAAACTTTAATAT
ATATTGAGACTTCACAGAGCACTAACTATACTGGGGCTGGGATGGGGATTCTGATGAGAGATAT
CCCTGACAGAGACCAGAGCTCAGGAGGAAGAAAGGACAGATGCCCTTGTTCAAGATGACTTCTT
CATGGGCATCGATAGATACATTCTTGAAAACCACCCAAAGTACCTAGAGGAGACCCTAGTGCAA
CTGTGCATTGTACAACAACTGATGAGGTAAAAGAAACAAACTGTTAATGACTCTAAACAATGTG
GCCCACAGAGTTGGTATGGTTTGGCCACACCAGCTCAGGGATAAAGGTACTAGAAAAAATCTTG
GGGAAAATCCTATTGTACATATTCCTTACATAATGTCTGTGATTTACCTCACTTATCAAATGAA
AAAAACCCAAAACACCTGGTTGATGGCCATTTGGTCAAACACCTCTAGGAGTCTGGAGTTGAGT
GGCCAGAACTCAGTCTTTCTTTACATGCTGTGTTAAGCAGGCTTTTATCTCATTCAGGTGTTAG
AAGTGGAGGGAGGAACACAGTTAGGCTGTGTTCTACTGCACTGCATAGGGAGGCAGGGTATCAC
CCAGGCACAACGCCCACTTTGCAAGTAAATAATCAGTAGCATGAAGCTCACTTCTGCAGGACCC
ACCATGACAAAGTGGAGAGCTGGGCGGTTAACCAGTGAACCAATTGAGTGGCTCTGGGCTCCTA
TACCCCTTTCATTCCACAGCCTGTGATACACCCTTAGAGTCAAAATATCAAATTCAGTGGGCCA
TGAGTCTTGCCCAAAAGTATAAATCTTTTTTTCATATGGACTATTTGGGTCTATTTTCAAAAAT
CCCTTTTTCTTCTCTAAACTATCTCAATTCCACATTTCACTTTGCAGGTGTAGACATGACTTTT
AGGTTGTTGATGATTTAATGCTATTGAAATGTTCTTATATGCAAAACACCTAGATAGATGCAGA
GTGTGGGACAAAGACAACCAGCACATTGCTAAGCCCAAGTAGCAAATTTCCTGACCCCATTTTA
AAGGTTCTGAGACAGATAGGCGGAATAGGTCCCCCTGTCTTTGAGTAGAAGAGTTGGCAAGCAA
GCTGGACTAAATGGGCCATGTGCAATTTTGCTGTCTGTTCACATTTCAAATAAACTAATGTGTT
ATGA

hide sequence

RefSeq Acc Id:

NM_001284405 ⟹ NP_001271334

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	72,320,373 - 72,368,395 (+)	NCBI
HuRef	5	66,821,943 - 66,860,941 (+)	NCBI
CHM1_1	5	71,048,869 - 71,087,855 (+)	NCBI
T2T-CHM13v2.0	5	72,801,543 - 72,849,569 (+)	NCBI

Sequence:

show sequence

AGTAGTTGGTATGGTCCGAGACAGTATGGCTGCTGCATTTCGGCCCTCGAATCGAGTTCTCCTG
CAGGCGCTGCAGATTTTGGTGTATCCTGGGGTGGGAGGCTCCGGCTCTGTCAGCTGCCGCTGCC
CTCTCGGAGCTAAAAGATACCTACTTACAGATAATGTGGTGAAATTAAAAGAATTTCAACAAAA
GAAAGTGGCTGTTGCATGTAATCTTTCTGGCACTAAAGAAACGTATTTTAGAAACTTGAAAAAG
AAACTGACCCAGAACAAGCTCATCTTGAAGGGGGAGTTGATAACCTTACTACATTTGTGTGAGT
CTCGGGACCATGTGGAACTGGCTAAAAATGTCATTTACAGGTACCATGCAGAGAACAAAAATTT
CACTTTGGGGGAGTATAAATTTGGACCGCTTTTTGTGAGGTTGTGTTACGAGTTGGATCTCGAG
GAATCTGCAGTGGAGCTCATGAAAGACCAGGTGCTTTGCAAGTATTGATAGAGATGAAAAACCA
AGATGTGAAGTTCACCAAAGATACCTATGTTCTTGCTTTTGCAATTTGCTACAAACTGAATAGC
CCTGAGTCTTTCAAAATCTGTACTACATTAAGAGAAGAAGCTCTACTCAAAGGAGAAATTCTCT
CCAGGAGAGCATCCTGTTTCGCTGTGGCATTAGCTCTGAATCAGAATGAGATGGCAAAAGCTGT
GTCCATTTTTTCTCAAATCATGAATCCAGAAAGCATAGCCTGCATTAATTTAAATATTATAATC
CATATCCAGTCAAATATGTTGGAAAACCTGATAAAGACTCTAAAAAATGCTGCAGAAGGAAATT
TATCAAAATTTGTGAAAAGACATGTGTTCTCGGAGGAAGTGCTGGCCAAAGTGAGGGAAAAAGT
GAAGGATGTGCCTGCCCTTGTGGCCAAATTTGATGAGATCTATGGGACACTGCACATCACTGGC
CAGGTCACCACTGATTCTTTGGATGCTGTGCTCTGCCACACCCCCAGGGACAGGAAATCTCACA
CGTTGCTATTAAACAAGAGGATGGTCAGCCGTCGCACCTTCCAGCCACTCAGCCAGTCCCTGTT
GGCTGAGTAACCCTGGTTTCAGTCCACCTATGGATCTGAGGGGCCTGCTTCTAGTGAGTTATTA
CCTTTCCTAAGAAGCCAGGTATCGCACTTCAGCAGACAGTGTGCTGACACTTGGTCTTCTCCTG
AAATTCCCAAATTCACTGAATGGTACCATGCCGATCTCTGAGAAGTTATGTTGCACCACTGTGA
AGGTCTAGATGCAAGCTTGGCTCCCTCAGAAAGGCGCTTCCCTTTTGCATGGCTGAGGATCCTT
GAAGGAACCTGGTCAGTCTCCGGTTCAGCTTCCGACACCAGAGTGGAACCCAGTAAGCACCATC
AGGAATGAATTTCACTACAAGTGTGGATAACTCTGATTTTCAAAGGAGTAGTTACTTGCAAATT
ACATCCTTGCTGAATTCAGGAGGTATGAAACCCTATTTTACCATGTTAGAAAACAGCCCAGGAT
TTTCTCATTGCTCTGCCATCATATATGTCTATGACTTGAGCCCTTATTTTTCCATCTGCAAAAC
AATAATGCCTATGTGTCTTTGCATATAGATTTGAAATCTTCATTCAAGGTTTAGTAGGATCATA
TTTTCTCAAAAATAAGAGAAATAAGGTTCATAAGGAAACTTGCTGGGATTGTGGTTGTTTTGTT
TTCTCAGCAGCACAAACAAAACCAGAATTTAGCCTTTAGGACTGCTGAGTAAGCCAAATTTAAA
TGACTACTGCTTTGTTCATGGGTAAGCCATGTGCTTTTCAAAATAAGTGCCACTAAAAACCACA
TAATGCTTTGGTTTCTATGTGGATAATAAATATTTAGTCCTATAGTTTATCTTATTTGTTAATG
ATTTTTCTCTCTTGAATGCCTCATATTAAAAAAAAATGTGCCATGAGAGCAGTTCAAAGCTGCT
TCATACTTATGGTCTCAAATATAGTATGTGTTGAATTTTACCGTGTCTGGTCACCAGTGAGCAG
AAGATACACAGTGACCCCACCTCACTTGCTCCTTTTGTTTCAGAAAGCCCAGAGGGTTGCTCAG
ACCTCAGGAGCTGTCTGCCAAGATTGCTGCAGACTCTTCATTGCCACCTCCAAAACTAAGACTG
TTCACTTGGTTGTTGTTCTAAGGCAAGGATTATAGAGTCAGAAATTGTAGACTAGGAGAAGTCT
TCTGAGTCTCCTAATTAATTCCTTCATCTTTCAGGTTAAGGAAACGATCCATGCAAGAGAGGCC
CAATCTCAACTGTAGACTGTGTCCCAGTAAGAGAGTCACAGCTTCAGGTGTTTGCTGAATCCAG
GTCTGAGATCACAATCCCACCTGAGGACAGGATCCGCATATGAGAGTCGCACATTGGTATAATT
GATTTGTGGTAGAGCTGAGATTAGAATCCAGATTCCTAGTCTAGTATCCTTCCCACTGTACCAC
ATTATCTCTTTTCAGAGGGGAAAAAGGAGCAGCTCTTAAGAAACAGAATACTAAGGGCCCCCAT
TACTGTGTGGCCCTGGGCATCCTCAGTTTCCTCATTTGGTAAATGGGGATAATGGTACCGACCT
CTTAGGCTTGGTGTGAGGATGAAATGAGATAGGGAATATAAAGCAAGCAGATAGTGGCTGGCAC
ATAGTACATGCAATATGTTTGAAACTAGTTAAGGAATTATAAAAACAAATGAGTTCTTCCTTCT
GCTCAAAAATATTGAATTTCTTGTCCTTGTGCTCTGTGAAACATTGAACAGCCCCATTTAGAGA
AACAAATTCTCTGCCCTCATAGAATCCTAATTGTTTCTGTATGTGTCTGGTGTTTTGCACATGC
AAAAAAAAAAAAAAAAGTGCTTGGATTTCTCCACTTTCAGTCTTAGGGAATAATAGGGCATGCT
TCCTGTCCCCCCAGCTTACTTTTCATCTTCTCCAACTCTCACAGTTCAAATGGCTCCAGTGCTG
TGGGTGAGTGTGGCCTTGGTTGTTAGCTAACAACCATTCATTAGCGAAATAACCAAATTTTGTG
AGCAGTAAATAGCAACAAGCTTCCCAATCCCTGCTGCCCAGCCGACTGGAAAAACTGGTCCATT
CCACCTGTTCCCAGAAACCTCAGTACAGAGGTAGCTATATGCATAATGTTCACCCCAAAGTAAT
AGATGATTTTAAAGTCTTAAAAGTCCAATAAAACAGTGTTCAGTATAGGTTATGATAGGCATTT
CATTCTTTAAAACTCAGTAATTCCTTTGAAAAAATGATGTTTCTTTATAAGCAGTAGTTTGCCT
ACATCATTTACTTGTTTTTTTCTGCTTTGGGGTTTTTTTTTTTTTGAGACACAATTTCACTCTG
TCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACTTCTGCCTCCTGGGTTCAA
GCAATTCTCATGCCCCAGCCTCCCAAGTAGCTGGGAATACAGTTGTGTGCCACCACACTGGCTT
ATTTTTTGTATTTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCTAACTCT
TATCCTCAAGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCG
CACCTGGCCTACTTATCCTGTTAATGAAAATATTTGATTGGACAGAACATCTTATTCCTTAACT
CTGTTATGTGCTTTTGTAGATTGTTTTTACTTACTGTAGATATCTGTTGCTCCAGAGTCCCAGA
AATCAGTATGATGAGTTCAGCACAGTTACTAGAAGGAGACAAAAAGATATCTTCTTAATTAGGT
GATATCAGGGATAGTTCTGGTTATTGATTGCTGTGTGGAAAACACTCCAAAACTCAGTGACTTT
AAACAACACCAGTCATTGTGTTATTTCTCATTATCCTAAGTACTGACTGGGCTCAGCCAGACAG
TTCTTATTCGGGTTCTCATGCAGTTATAGTCATCATCAGATTGTGGCCGCGACTGGCATAATCT
CAAAGGCTTCCTTAGTATTTCTGGCAGTTGATGCTAGGACCTCAGCTAGTGCTGGGGCTGGAAC
ATGTCTACACATAGCTTCCCCACAGCATGGTGGCTAGGTACTAGGAGTGACTGTCCCAAGAGGA
CCAGGCAGAAGCAGTTACATTTTATGACCTAGTCTCAGAAGTCTCATAACATCACTTCCACTAA
AGTCCCAAGCCCCCCCAGATTCAAATGGAGGGAGCATATATCCCATCTCAGTGGTAGGAATTTC
AAAGAATAAATTCTGTGAAACTGTAGTAGATAGTCTGTTTTCTCCCCTGTTTAAAACCTCCTGA
GGACCTCACATGCTTCTGGATAAAGCTCAGGCTCTTCAACATGGTTTAGAAGGTCCTTCCTAAT
CTGGCCCACATTTGTCCATCCAGCTCCAACTCTTGCTACTCTACGCCCCTCTTCCCCTCTTGTG
GAATGGCTAATTCCTACTCATCATTCAGGTCTTGGCTTAGACATCTTTTCATCTGAGAAGGCTT
TCTGGTCTAGTCTCACCTGGTTAGGTGAACTCCCCATGTGCCCCATGTACCTCATTTATCAAAG
TGCTTATCATATGCCTGTCACTGTCTGTTTTCTTCACTAGACTCAGGTGCCATGTCTGTCCTTT
CTGCTCTGTTTGCTGGGTGCCTAGCATGGTAGGGGATGTATCAGAGGATTAGTACTTATTTAAC
TCACCAGCTCATTTAACTATATTGTATAACAATGTTGGTGGTCATATTGGTCCCCCATGGACAG
CTTTTCGTCTCTAATACCATACACTCAGTGCAGGGTCTGAATGTCCCCCCAAACTCATATGTTG
AACTCCAAATCCCCAAGGTGTTGGTATTAGATGATGTAGCCTTTGGGAAGGAATTAGGGTGGTG
CCCTCATGAATGGGATTTGTGTCATTATAAAACAAGCCCAAAGAAATTTGGTCACCCCTTCCTT
TAAGCGAGGTCATGGCAAAAAGACGCTGTCTATGAACCAGAAAATGGGCTCTCACTAGACACCA
AATGCTGGTGTCTTGTTCTTGGATTTCCCAGCCTTCAGAACTGTGAGAAATATATTTCTGTTAT
TTATAAGCCACCCAGTTTTTGGTATTTTGTTATAGCAGCCTGAAGAGACTAAGACAGCCAGTCC
CAACCTTCCACATTTAGACCTGACTCCAAGTTTTGCTCAGCCCACTGTGTATCCCTTCCTCCTC
CCAACCAAAGTGTCCCCACTCTTTCTCTATTCTGTTCTGCCTATTATTCAAGGTCTAACTTGTG
TCACTTTTTCAATGAGGCATTTGCAAGCTCTTTAAATTCTCAAGGATTCTCCATTAATTCACCA
TATCTATTTTGAGAATCTACAAAGGACAAGGCACTACGAAAGACTCTACATGCCACAGGGAAAA
GACAGACAAGATCTCTGTCCCAACACAGAAAATTTTAGCCTGCCATGTTGACTCCCAGGGATCT
TTTTGTTTCTGTAGGAGGTGCTCATTACAGAGTGGCCAAATTCCTACTGAAGAATGGACTTGGT
TGTGAAATAAAACAATCCTGGGCAATATTTGTTGATAGTTTTGTTGAGGATGATTCAGGAAATA
AATACAAACTTTTAACTACTCATAATGAATATTGTTGGGATATTATAATGAGGAGGTAAGGATT
TACCTGCTACAATTTGGGTAGGCAAAAATGTAGGCTTCTCTGTTTCTTTGCAGTGAACTAAAAC
TTCTTATGAACTCTGGTTATACTGAAAACAGGAGTCATGGGAGACTTGATCTTGCTTAAAGGAT
ATTTTAGTCTTTGATTTCTTTGAGGTAAATGTTCAATCTTTTTGCGTATCTTCCTCCTACCTTT
TCATAGCCAAGATGACAGCTGAACAGGCTCTCATCTTAAACCTGAACAGGCATCAGAATCACTT
GGAGAGCTTGTTAAAATACAGATTGATGGGCCCCACCCCCAGAATATCTGATTCCATACATATG
AGTCAGGGCCCAAGAATTTGCATTACAAATGCATTCTCAGATGATGCCTTTGCTAGTCTGGGCA
ACACACTTTAAGAATAGTTGGTATAACAGAAAGCTTGTGTGTCTTGTGTGTCTATGTGGACAGG
AGTTGTGGGCTTCAGATTCATCCTCTGTGTCCTCTGGTCTCAGTTGTGAGGAGGGGGAAGAGTG
GGAAGTCTGGCCTTGTCTCTGGACTCCTGAGTAAATAATGTGCTGATGCAGTGTTGGGCCCAGC
AGGCCTTTTAGAGGGTCATGCCAGCACCCACTGCTGAGGTCTGTAGTCTCTACCATCTGCCCTA
CACATAATAAGTACCCTTCCTCTGCTATTCTCTCTTGCTGACCCCAAGCCCACCAATGAATTAA
TTGAATCAAGAGTTCCAAGGCATTAGGTTAAAGACATTGAAAAATATATCCATTTATTTTTTCA
AATATACATAAAGAAATCCATACAAACTAAGGCCAATTGTGGCAAAACTACATGAGACTTGACT
AAAATAACCCACAATTCAAATTTCCTTCATAACATTTCTACCTATAAATTTGATTCAGAGAAAT
TACACTTCATAGATAAACTAGCCATAAAAAAGATTACAGCGGCAAAAGCTATCATCAGTAATAT
TTGATATGCATAAGAAACCGTGAGGAACCAAATCATGGTAAAATTGATTCTAAGGAAATGGTTG
CACAAAAATAAAAGTGAAATGGTATTTTTTAAAAGGAAGTGGTTCAACTGTATTGCATAGAAAA
TGAATCAAGGAATTACATTGGCTTAAATGGCATTAGCTCAAAAAAGTGTTCTCAAAAATTAATG
GAAATTGGTGTATTCTGATTGAGATATGTTTTATTCAATAACATGGAGTCAAAACAAGAAGATT
TTTTAAATGTCCTCTGTTCCCATGGAGCTTGCATTCTGCAAGAGCAACAGACATCAAAAAGATA
ACTGGGCAAATGACCACATGATTGCAGTTGGGATAAGTGCTAAGTCTAGGGTAATCTTCATATC
ACCCTGTGGCATGTATAAAGGAAGACCTTTTGCTGGTGTTTTGTAAAACCAGTTGTCTGTGTCA
TTTATTTTAACATGTAAAGTACACTGCCTTGTATTGTTACAGATCTTTTTCTCCATATCCGGTC
TCTCCTGAAGAACAGAGTATTCTACATTTGTTTTATATGACCCCAAGGTGCTTATGTAGCATAT
TATTTATACATCTAATGAGGTCTTAATATTTTTTGAAAGAGTGATTTCATTAATTAACGGCAGA
TTTTAGTTAATATGTACAGTCTGCCACAATATACTTTAGGCATTTCACAGTTTTCTCATAAACT
GGTTGCTGTTTCTGTCCCGGTTTTACACATGACAGAGCCAAGACACAGACAAGTAGAATGACTT
GCCTGTGCGGGGGTCCTGGGTTGGCCAGTGCATTCATGTACTGGACCAGGGCCCCTGTATCTTG
CAGTAATGTATCCGTGGGCGTTTCCCCCCAGACATTCGAAGCACACAGCTAATCTGAGAAAGAA
GTGATTTGGCGAGGGGTTGGGGGAGTAGGCGGTGGGCACAACGGTTCCAGGTGACTTTCAAGTT
GCTAATGAAAGAGGATCAAAGCGCTGCTGAACTGCTCACCTCCCCGCTTGGCCTGCCTTGCCCA
GCTGACTTTCTTCCAAGGGCCTCAGAGGCAGCATTACCACAGGCATTAAAGATGGGGATGGGGA
AAGAAGGCCCAGAGGGAAAGGGAACCACATGCTTACCTGCTAATCACTGCCCTGCAGCTGAAAC
ACTGCAGAGCTGGCTGCTCTGGGATAGGAGAGGAAGGCCTCATTTAATCAGGAGAAGAAAGAGA
ACCAGGGGCCTCTGAGATGGCCTGCAAGGCATCACGGTCTGTGAACTGGTCTGTGAACTGCGGG
CCTGCCTGGAAATGCATTGTCAGAGTAGAGTGATGCTTTCTTTGTAAATCCCTTGTCTTCCCTG
ATTCCTTTTTCCTGACTGAATCAGGCCAAGATGCTCACCCAGAAGAGCACAGCATCACCCTGTC
TTTCAATCCCCAAAGTAGCCCTTACCCCTAGACAGCAACATCATCTGTTACAATTGACAGCATG
AAGGAAGGCATAACCCCTGCAAAGTGACTGCCCTACAACTCAATTTGATTTTGAATCCGCAAGT
GCAAGTCTCATTCCTGGTAACTAATAGTAACAGAATCTGCTGATGTATTCTACCGCATCCCAGG
GAGACTCATGTAGCCATGAAGACTGAAGAGGATTAAGTTAACCTTCCATTTTATAGCTGCAAAT
TACTGGGTTGATGTCAGGTAGGGTGAGGAGTATGTTCCGGTTATAGCTGGTAGCAAGATGGCTG
CATGCATCATGAGGCTTTGGCCTAAAAAGCTTGTCATTATATAAAAAAGCTATAGAGAGCAGAG
AAAATGTCATTTCCAATTTAGAAGATCATAATCGATTTTTAACACATTGGTCCTTAGGTGATAC
AGAATTCAACAAAAACGGGGCTTATAAAAAGCCAGGGTTCATAAAATTACAAAGATTATAGACA
AAAATAGATAACATATAAGACTTACCAGCTGGGCAAGGTAGCTCAAGTTTGTAATCCCAGCACT
TAGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGGGTTCTAGACCAGCCTGGCCAGCATGG
TGAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCGGGCATCTGTAAT
TTCAGCTACTCAGGAGGTTGAGACGGGAGAATTGCTTGAACCTGGGAGACGGAGGTTACAGTGA
GCCTAGACTGCGCCATTGCACTCTAGCCTAGGCGACAAGAGCGAAACTATGTTTCAAATAATAA
TAATAATAATAAGACTTACCATTTGCCAGGTCCTGTGCAAAGCACTTTATCTCATTTGATCCCT
GGGAAACCCCATAAAGTACTATTATGCCATTTCTCAGATAAAGAAACTGAAGCTCAGAGACGTT
TAGTTGCTTGCCTGTGGATATAACACTAGAGAGCGGGAGAGCACAGTATTTGAACCCAGGAGGT
CTGATGCTGGAGGTCATGTTTTTAACCTTATCTCTGTATTGCCTGCCCAAGTGCTGGCTGTGTG
CATGTATTCTCAATAATCCCTGGCCAACTTCCTGCTTTGCTGTCAGTAGCAGAGCTGAAGAACT
TACAATAGACGGCAGAGGGCGTCCAGAGTCACTATTTTTAAAAGGTGCTAGTTTTCAAAAGCAT
TTCTGGAATTCAGAGAGAACAGAGGTCCACATAGCAGGCTAGACAGGAAAGGTAGCTGTAGATA
GACTTTAGGGAGTATATAGAATATTGCCTTCACGCAGGTTAAGAAATATTTAGTGTTGAAAGGA
TACTTTTAAAAGAGAGAAAGCAGTAAAGTTGATCCTCTGCAGAAAGTAGACCAATGTAAGTATC
ATGCAATGTGTCCATGTGCGTGTACACGTGAGCACACATGCACACACACATTAGATGTTTTGTG
AGAAAACATACACTCAGTTTCTTATGAAAGAAAAAGGATGGTCATTTGTCTCACTTGGGAAAGG
GTTTCCTCCCAAATTGAGAAGGAAAATCCCCCCAATTAACTGTTTGCCTTTATTAACTAAAATC
ACATTTGTGTGTGAAAGAAGTAAAAAGGAATTAGGATCTTGGTTATTTTGATTGTCTCTCTACC
CTTCCAGATTCATCAAATGATAGTCAACCTTACTGTCTCTTCCTGCCATCATCAGGAATGACTA
AATCTTGGAGCGTTCTCCATTTAAGTGAGGGAAATGTTGGATTCCCGGTGTATTTATCACTGCC
CATCTCTAAGAATAGGTCAAAGATGAAATTCCCATTATCATGAAACTTTAATATATATTGAGAC
TTCACAGAGCACTAACTATACTGGGGCTGGGATGGGGATTCTGATGAGAGATATCCCTGACAGA
GACCAGAGCTCAGGAGGAAGAAAGGACAGATGCCCTTGTTCAAGATGACTTCTTCATGGGCATC
GATAGATACATTCTTGAAAACCACCCAAAGTACCTAGAGGAGACCCTAGTGCAACTGTGCATTG
TACAACAACTGATGAGGTAAAAGAAACAAACTGTTAATGACTCTAAACAATGTGGCCCACAGAG
TTGGTATGGTTTGGCCACACCAGCTCAGGGATAAAGGTACTAGAAAAAATCTTGGGGAAAATCC
TATTGTACATATTCCTTACATAATGTCTGTGATTTACCTCACTTATCAAATGAAAAAAACCCAA
AACACCTGGTTGATGGCCATTTGGTCAAACACCTCTAGGAGTCTGGAGTTGAGTGGCCAGAACT
CAGTCTTTCTTTACATGCTGTGTTAAGCAGGCTTTTATCTCATTCAGGTGTTAGAAGTGGAGGG
AGGAACACAGTTAGGCTGTGTTCTACTGCACTGCATAGGGAGGCAGGGTATCACCCAGGCACAA
CGCCCACTTTGCAAGTAAATAATCAGTAGCATGAAGCTCACTTCTGCAGGACCCACCATGACAA
AGTGGAGAGCTGGGCGGTTAACCAGTGAACCAATTGAGTGGCTCTGGGCTCCTATACCCCTTTC
ATTCCACAGCCTGTGATACACCCTTAGAGTCAAAATATCAAATTCAGTGGGCCATGAGTCTTGC
CCAAAAGTATAAATCTTTTTTTCATATGGACTATTTGGGTCTATTTTCAAAAATCCCTTTTTCT
TCTCTAAACTATCTCAATTCCACATTTCACTTTGCAGGTGTAGACATGACTTTTAGGTTGTTGA
TGATTTAATGCTATTGAAATGTTCTTATATGCAAAACACCTAGATAGATGCAGAGTGTGGGACA
AAGACAACCAGCACATTGCTAAGCCCAAGTAGCAAATTTCCTGACCCCATTTTAAAGGTTCTGA
GACAGATAGGCGGAATAGGTCCCCCTGTCTTTGAGTAGAAGAGTTGGCAAGCAAGCTGGACTAA
ATGGGCCATGTGCAATTTTGCTGTCTGTTCACATTTCAAATAAACTAATGTGTTATGA

hide sequence

RefSeq Acc Id:

NM_024754 ⟹ NP_079030

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	72,320,373 - 72,368,395 (+)	NCBI
GRCh37	5	71,616,200 - 71,656,544 (+)	NCBI
Build 36	5	71,651,956 - 71,690,936 (+)	NCBI Archive
Celera	5	67,511,586 - 67,550,568 (+)	RGD
HuRef	5	66,821,943 - 66,860,941 (+)	NCBI
CHM1_1	5	71,048,869 - 71,087,855 (+)	NCBI
T2T-CHM13v2.0	5	72,801,543 - 72,849,569 (+)	NCBI

Sequence:

show sequence

AGTAGTTGGTATGGTCCGAGACAGTATGGCTGCTGCATTTCGGCCCTCGAATCGAGTTCTCCTG
CAGGCGCTGCAGATTTTGGTGTATCCTGGGGTGGGAGGCTCCGGCTCTGTCAGCTGCCGCTGCC
CTCTCGGAGCTAAAAGATACCTACTTACAGATAATGTGGTGAAATTAAAAGAATTTCAACAAAA
GAAAGTGGCTGTTGCATGTAATCTTTCTGGCACTAAAGAAACGTATTTTAGAAACTTGAAAAAG
AAACTGACCCAGAACAAGCTCATCTTGAAGGGGGAGTTGATAACCTTACTACATTTGTGTGAGT
CTCGGGACCATGTGGAACTGGCTAAAAATGTCATTTACAGGTACCATGCAGAGAACAAAAATTT
CACTTTGGGGGAGTATAAATTTGGACCGCTTTTTGTGAGGTTGTGTTACGAGTTGGATCTCGAG
GAATCTGCAGTGGAGCTCATGAAAGACCAGCATTTACGAGGTTTCTTCTCAGACTCCACATCAT
TCAATATTTTGATGGATATGTTATTTATCAAAGGCAAATATAAAAGTGCTTTGCAAGTATTGAT
AGAGATGAAAAACCAAGATGTGAAGTTCACCAAAGATACCTATGTTCTTGCTTTTGCAATTTGC
TACAAACTGAATAGCCCTGAGTCTTTCAAAATCTGTACTACATTAAGAGAAGAAGCTCTACTCA
AAGGAGAAATTCTCTCCAGGAGAGCATCCTGTTTCGCTGTGGCATTAGCTCTGAATCAGAATGA
GATGGCAAAAGCTGTGTCCATTTTTTCTCAAATCATGAATCCAGAAAGCATAGCCTGCATTAAT
TTAAATATTATAATCCATATCCAGTCAAATATGTTGGAAAACCTGATAAAGACTCTAAAAAATG
CTGCAGAAGGAAATTTATCAAAATTTGTGAAAAGACATGTGTTCTCGGAGGAAGTGCTGGCCAA
AGTGAGGGAAAAAGTGAAGGATGTGCCTGCCCTTGTGGCCAAATTTGATGAGATCTATGGGACA
CTGCACATCACTGGCCAGGTCACCACTGATTCTTTGGATGCTGTGCTCTGCCACACCCCCAGGG
ACAGGAAATCTCACACGTTGCTATTAAACAAGAGGATGGTCAGCCGTCGCACCTTCCAGCCACT
CAGCCAGTCCCTGTTGGCTGAGTAACCCTGGTTTCAGTCCACCTATGGATCTGAGGGGCCTGCT
TCTAGTGAGTTATTACCTTTCCTAAGAAGCCAGGTATCGCACTTCAGCAGACAGTGTGCTGACA
CTTGGTCTTCTCCTGAAATTCCCAAATTCACTGAATGGTACCATGCCGATCTCTGAGAAGTTAT
GTTGCACCACTGTGAAGGTCTAGATGCAAGCTTGGCTCCCTCAGAAAGGCGCTTCCCTTTTGCA
TGGCTGAGGATCCTTGAAGGAACCTGGTCAGTCTCCGGTTCAGCTTCCGACACCAGAGTGGAAC
CCAGTAAGCACCATCAGGAATGAATTTCACTACAAGTGTGGATAACTCTGATTTTCAAAGGAGT
AGTTACTTGCAAATTACATCCTTGCTGAATTCAGGAGGTATGAAACCCTATTTTACCATGTTAG
AAAACAGCCCAGGATTTTCTCATTGCTCTGCCATCATATATGTCTATGACTTGAGCCCTTATTT
TTCCATCTGCAAAACAATAATGCCTATGTGTCTTTGCATATAGATTTGAAATCTTCATTCAAGG
TTTAGTAGGATCATATTTTCTCAAAAATAAGAGAAATAAGGTTCATAAGGAAACTTGCTGGGAT
TGTGGTTGTTTTGTTTTCTCAGCAGCACAAACAAAACCAGAATTTAGCCTTTAGGACTGCTGAG
TAAGCCAAATTTAAATGACTACTGCTTTGTTCATGGGTAAGCCATGTGCTTTTCAAAATAAGTG
CCACTAAAAACCACATAATGCTTTGGTTTCTATGTGGATAATAAATATTTAGTCCTATAGTTTA
TCTTATTTGTTAATGATTTTTCTCTCTTGAATGCCTCATATTAAAAAAAAATGTGCCATGAGAG
CAGTTCAAAGCTGCTTCATACTTATGGTCTCAAATATAGTATGTGTTGAATTTTACCGTGTCTG
GTCACCAGTGAGCAGAAGATACACAGTGACCCCACCTCACTTGCTCCTTTTGTTTCAGAAAGCC
CAGAGGGTTGCTCAGACCTCAGGAGCTGTCTGCCAAGATTGCTGCAGACTCTTCATTGCCACCT
CCAAAACTAAGACTGTTCACTTGGTTGTTGTTCTAAGGCAAGGATTATAGAGTCAGAAATTGTA
GACTAGGAGAAGTCTTCTGAGTCTCCTAATTAATTCCTTCATCTTTCAGGTTAAGGAAACGATC
CATGCAAGAGAGGCCCAATCTCAACTGTAGACTGTGTCCCAGTAAGAGAGTCACAGCTTCAGGT
GTTTGCTGAATCCAGGTCTGAGATCACAATCCCACCTGAGGACAGGATCCGCATATGAGAGTCG
CACATTGGTATAATTGATTTGTGGTAGAGCTGAGATTAGAATCCAGATTCCTAGTCTAGTATCC
TTCCCACTGTACCACATTATCTCTTTTCAGAGGGGAAAAAGGAGCAGCTCTTAAGAAACAGAAT
ACTAAGGGCCCCCATTACTGTGTGGCCCTGGGCATCCTCAGTTTCCTCATTTGGTAAATGGGGA
TAATGGTACCGACCTCTTAGGCTTGGTGTGAGGATGAAATGAGATAGGGAATATAAAGCAAGCA
GATAGTGGCTGGCACATAGTACATGCAATATGTTTGAAACTAGTTAAGGAATTATAAAAACAAA
TGAGTTCTTCCTTCTGCTCAAAAATATTGAATTTCTTGTCCTTGTGCTCTGTGAAACATTGAAC
AGCCCCATTTAGAGAAACAAATTCTCTGCCCTCATAGAATCCTAATTGTTTCTGTATGTGTCTG
GTGTTTTGCACATGCAAAAAAAAAAAAAAAAGTGCTTGGATTTCTCCACTTTCAGTCTTAGGGA
ATAATAGGGCATGCTTCCTGTCCCCCCAGCTTACTTTTCATCTTCTCCAACTCTCACAGTTCAA
ATGGCTCCAGTGCTGTGGGTGAGTGTGGCCTTGGTTGTTAGCTAACAACCATTCATTAGCGAAA
TAACCAAATTTTGTGAGCAGTAAATAGCAACAAGCTTCCCAATCCCTGCTGCCCAGCCGACTGG
AAAAACTGGTCCATTCCACCTGTTCCCAGAAACCTCAGTACAGAGGTAGCTATATGCATAATGT
TCACCCCAAAGTAATAGATGATTTTAAAGTCTTAAAAGTCCAATAAAACAGTGTTCAGTATAGG
TTATGATAGGCATTTCATTCTTTAAAACTCAGTAATTCCTTTGAAAAAATGATGTTTCTTTATA
AGCAGTAGTTTGCCTACATCATTTACTTGTTTTTTTCTGCTTTGGGGTTTTTTTTTTTTTGAGA
CACAATTTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACTTCT
GCCTCCTGGGTTCAAGCAATTCTCATGCCCCAGCCTCCCAAGTAGCTGGGAATACAGTTGTGTG
CCACCACACTGGCTTATTTTTTGTATTTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGG
CTGGTCTCTAACTCTTATCCTCAAGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTAC
AGGCATGAGCCACCGCACCTGGCCTACTTATCCTGTTAATGAAAATATTTGATTGGACAGAACA
TCTTATTCCTTAACTCTGTTATGTGCTTTTGTAGATTGTTTTTACTTACTGTAGATATCTGTTG
CTCCAGAGTCCCAGAAATCAGTATGATGAGTTCAGCACAGTTACTAGAAGGAGACAAAAAGATA
TCTTCTTAATTAGGTGATATCAGGGATAGTTCTGGTTATTGATTGCTGTGTGGAAAACACTCCA
AAACTCAGTGACTTTAAACAACACCAGTCATTGTGTTATTTCTCATTATCCTAAGTACTGACTG
GGCTCAGCCAGACAGTTCTTATTCGGGTTCTCATGCAGTTATAGTCATCATCAGATTGTGGCCG
CGACTGGCATAATCTCAAAGGCTTCCTTAGTATTTCTGGCAGTTGATGCTAGGACCTCAGCTAG
TGCTGGGGCTGGAACATGTCTACACATAGCTTCCCCACAGCATGGTGGCTAGGTACTAGGAGTG
ACTGTCCCAAGAGGACCAGGCAGAAGCAGTTACATTTTATGACCTAGTCTCAGAAGTCTCATAA
CATCACTTCCACTAAAGTCCCAAGCCCCCCCAGATTCAAATGGAGGGAGCATATATCCCATCTC
AGTGGTAGGAATTTCAAAGAATAAATTCTGTGAAACTGTAGTAGATAGTCTGTTTTCTCCCCTG
TTTAAAACCTCCTGAGGACCTCACATGCTTCTGGATAAAGCTCAGGCTCTTCAACATGGTTTAG
AAGGTCCTTCCTAATCTGGCCCACATTTGTCCATCCAGCTCCAACTCTTGCTACTCTACGCCCC
TCTTCCCCTCTTGTGGAATGGCTAATTCCTACTCATCATTCAGGTCTTGGCTTAGACATCTTTT
CATCTGAGAAGGCTTTCTGGTCTAGTCTCACCTGGTTAGGTGAACTCCCCATGTGCCCCATGTA
CCTCATTTATCAAAGTGCTTATCATATGCCTGTCACTGTCTGTTTTCTTCACTAGACTCAGGTG
CCATGTCTGTCCTTTCTGCTCTGTTTGCTGGGTGCCTAGCATGGTAGGGGATGTATCAGAGGAT
TAGTACTTATTTAACTCACCAGCTCATTTAACTATATTGTATAACAATGTTGGTGGTCATATTG
GTCCCCCATGGACAGCTTTTCGTCTCTAATACCATACACTCAGTGCAGGGTCTGAATGTCCCCC
CAAACTCATATGTTGAACTCCAAATCCCCAAGGTGTTGGTATTAGATGATGTAGCCTTTGGGAA
GGAATTAGGGTGGTGCCCTCATGAATGGGATTTGTGTCATTATAAAACAAGCCCAAAGAAATTT
GGTCACCCCTTCCTTTAAGCGAGGTCATGGCAAAAAGACGCTGTCTATGAACCAGAAAATGGGC
TCTCACTAGACACCAAATGCTGGTGTCTTGTTCTTGGATTTCCCAGCCTTCAGAACTGTGAGAA
ATATATTTCTGTTATTTATAAGCCACCCAGTTTTTGGTATTTTGTTATAGCAGCCTGAAGAGAC
TAAGACAGCCAGTCCCAACCTTCCACATTTAGACCTGACTCCAAGTTTTGCTCAGCCCACTGTG
TATCCCTTCCTCCTCCCAACCAAAGTGTCCCCACTCTTTCTCTATTCTGTTCTGCCTATTATTC
AAGGTCTAACTTGTGTCACTTTTTCAATGAGGCATTTGCAAGCTCTTTAAATTCTCAAGGATTC
TCCATTAATTCACCATATCTATTTTGAGAATCTACAAAGGACAAGGCACTACGAAAGACTCTAC
ATGCCACAGGGAAAAGACAGACAAGATCTCTGTCCCAACACAGAAAATTTTAGCCTGCCATGTT
GACTCCCAGGGATCTTTTTGTTTCTGTAGGAGGTGCTCATTACAGAGTGGCCAAATTCCTACTG
AAGAATGGACTTGGTTGTGAAATAAAACAATCCTGGGCAATATTTGTTGATAGTTTTGTTGAGG
ATGATTCAGGAAATAAATACAAACTTTTAACTACTCATAATGAATATTGTTGGGATATTATAAT
GAGGAGGTAAGGATTTACCTGCTACAATTTGGGTAGGCAAAAATGTAGGCTTCTCTGTTTCTTT
GCAGTGAACTAAAACTTCTTATGAACTCTGGTTATACTGAAAACAGGAGTCATGGGAGACTTGA
TCTTGCTTAAAGGATATTTTAGTCTTTGATTTCTTTGAGGTAAATGTTCAATCTTTTTGCGTAT
CTTCCTCCTACCTTTTCATAGCCAAGATGACAGCTGAACAGGCTCTCATCTTAAACCTGAACAG
GCATCAGAATCACTTGGAGAGCTTGTTAAAATACAGATTGATGGGCCCCACCCCCAGAATATCT
GATTCCATACATATGAGTCAGGGCCCAAGAATTTGCATTACAAATGCATTCTCAGATGATGCCT
TTGCTAGTCTGGGCAACACACTTTAAGAATAGTTGGTATAACAGAAAGCTTGTGTGTCTTGTGT
GTCTATGTGGACAGGAGTTGTGGGCTTCAGATTCATCCTCTGTGTCCTCTGGTCTCAGTTGTGA
GGAGGGGGAAGAGTGGGAAGTCTGGCCTTGTCTCTGGACTCCTGAGTAAATAATGTGCTGATGC
AGTGTTGGGCCCAGCAGGCCTTTTAGAGGGTCATGCCAGCACCCACTGCTGAGGTCTGTAGTCT
CTACCATCTGCCCTACACATAATAAGTACCCTTCCTCTGCTATTCTCTCTTGCTGACCCCAAGC
CCACCAATGAATTAATTGAATCAAGAGTTCCAAGGCATTAGGTTAAAGACATTGAAAAATATAT
CCATTTATTTTTTCAAATATACATAAAGAAATCCATACAAACTAAGGCCAATTGTGGCAAAACT
ACATGAGACTTGACTAAAATAACCCACAATTCAAATTTCCTTCATAACATTTCTACCTATAAAT
TTGATTCAGAGAAATTACACTTCATAGATAAACTAGCCATAAAAAAGATTACAGCGGCAAAAGC
TATCATCAGTAATATTTGATATGCATAAGAAACCGTGAGGAACCAAATCATGGTAAAATTGATT
CTAAGGAAATGGTTGCACAAAAATAAAAGTGAAATGGTATTTTTTAAAAGGAAGTGGTTCAACT
GTATTGCATAGAAAATGAATCAAGGAATTACATTGGCTTAAATGGCATTAGCTCAAAAAAGTGT
TCTCAAAAATTAATGGAAATTGGTGTATTCTGATTGAGATATGTTTTATTCAATAACATGGAGT
CAAAACAAGAAGATTTTTTAAATGTCCTCTGTTCCCATGGAGCTTGCATTCTGCAAGAGCAACA
GACATCAAAAAGATAACTGGGCAAATGACCACATGATTGCAGTTGGGATAAGTGCTAAGTCTAG
GGTAATCTTCATATCACCCTGTGGCATGTATAAAGGAAGACCTTTTGCTGGTGTTTTGTAAAAC
CAGTTGTCTGTGTCATTTATTTTAACATGTAAAGTACACTGCCTTGTATTGTTACAGATCTTTT
TCTCCATATCCGGTCTCTCCTGAAGAACAGAGTATTCTACATTTGTTTTATATGACCCCAAGGT
GCTTATGTAGCATATTATTTATACATCTAATGAGGTCTTAATATTTTTTGAAAGAGTGATTTCA
TTAATTAACGGCAGATTTTAGTTAATATGTACAGTCTGCCACAATATACTTTAGGCATTTCACA
GTTTTCTCATAAACTGGTTGCTGTTTCTGTCCCGGTTTTACACATGACAGAGCCAAGACACAGA
CAAGTAGAATGACTTGCCTGTGCGGGGGTCCTGGGTTGGCCAGTGCATTCATGTACTGGACCAG
GGCCCCTGTATCTTGCAGTAATGTATCCGTGGGCGTTTCCCCCCAGACATTCGAAGCACACAGC
TAATCTGAGAAAGAAGTGATTTGGCGAGGGGTTGGGGGAGTAGGCGGTGGGCACAACGGTTCCA
GGTGACTTTCAAGTTGCTAATGAAAGAGGATCAAAGCGCTGCTGAACTGCTCACCTCCCCGCTT
GGCCTGCCTTGCCCAGCTGACTTTCTTCCAAGGGCCTCAGAGGCAGCATTACCACAGGCATTAA
AGATGGGGATGGGGAAAGAAGGCCCAGAGGGAAAGGGAACCACATGCTTACCTGCTAATCACTG
CCCTGCAGCTGAAACACTGCAGAGCTGGCTGCTCTGGGATAGGAGAGGAAGGCCTCATTTAATC
AGGAGAAGAAAGAGAACCAGGGGCCTCTGAGATGGCCTGCAAGGCATCACGGTCTGTGAACTGG
TCTGTGAACTGCGGGCCTGCCTGGAAATGCATTGTCAGAGTAGAGTGATGCTTTCTTTGTAAAT
CCCTTGTCTTCCCTGATTCCTTTTTCCTGACTGAATCAGGCCAAGATGCTCACCCAGAAGAGCA
CAGCATCACCCTGTCTTTCAATCCCCAAAGTAGCCCTTACCCCTAGACAGCAACATCATCTGTT
ACAATTGACAGCATGAAGGAAGGCATAACCCCTGCAAAGTGACTGCCCTACAACTCAATTTGAT
TTTGAATCCGCAAGTGCAAGTCTCATTCCTGGTAACTAATAGTAACAGAATCTGCTGATGTATT
CTACCGCATCCCAGGGAGACTCATGTAGCCATGAAGACTGAAGAGGATTAAGTTAACCTTCCAT
TTTATAGCTGCAAATTACTGGGTTGATGTCAGGTAGGGTGAGGAGTATGTTCCGGTTATAGCTG
GTAGCAAGATGGCTGCATGCATCATGAGGCTTTGGCCTAAAAAGCTTGTCATTATATAAAAAAG
CTATAGAGAGCAGAGAAAATGTCATTTCCAATTTAGAAGATCATAATCGATTTTTAACACATTG
GTCCTTAGGTGATACAGAATTCAACAAAAACGGGGCTTATAAAAAGCCAGGGTTCATAAAATTA
CAAAGATTATAGACAAAAATAGATAACATATAAGACTTACCAGCTGGGCAAGGTAGCTCAAGTT
TGTAATCCCAGCACTTAGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGGGTTCTAGACCA
GCCTGGCCAGCATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCAGGCGTGGTG
GCGGGCATCTGTAATTTCAGCTACTCAGGAGGTTGAGACGGGAGAATTGCTTGAACCTGGGAGA
CGGAGGTTACAGTGAGCCTAGACTGCGCCATTGCACTCTAGCCTAGGCGACAAGAGCGAAACTA
TGTTTCAAATAATAATAATAATAATAAGACTTACCATTTGCCAGGTCCTGTGCAAAGCACTTTA
TCTCATTTGATCCCTGGGAAACCCCATAAAGTACTATTATGCCATTTCTCAGATAAAGAAACTG
AAGCTCAGAGACGTTTAGTTGCTTGCCTGTGGATATAACACTAGAGAGCGGGAGAGCACAGTAT
TTGAACCCAGGAGGTCTGATGCTGGAGGTCATGTTTTTAACCTTATCTCTGTATTGCCTGCCCA
AGTGCTGGCTGTGTGCATGTATTCTCAATAATCCCTGGCCAACTTCCTGCTTTGCTGTCAGTAG
CAGAGCTGAAGAACTTACAATAGACGGCAGAGGGCGTCCAGAGTCACTATTTTTAAAAGGTGCT
AGTTTTCAAAAGCATTTCTGGAATTCAGAGAGAACAGAGGTCCACATAGCAGGCTAGACAGGAA
AGGTAGCTGTAGATAGACTTTAGGGAGTATATAGAATATTGCCTTCACGCAGGTTAAGAAATAT
TTAGTGTTGAAAGGATACTTTTAAAAGAGAGAAAGCAGTAAAGTTGATCCTCTGCAGAAAGTAG
ACCAATGTAAGTATCATGCAATGTGTCCATGTGCGTGTACACGTGAGCACACATGCACACACAC
ATTAGATGTTTTGTGAGAAAACATACACTCAGTTTCTTATGAAAGAAAAAGGATGGTCATTTGT
CTCACTTGGGAAAGGGTTTCCTCCCAAATTGAGAAGGAAAATCCCCCCAATTAACTGTTTGCCT
TTATTAACTAAAATCACATTTGTGTGTGAAAGAAGTAAAAAGGAATTAGGATCTTGGTTATTTT
GATTGTCTCTCTACCCTTCCAGATTCATCAAATGATAGTCAACCTTACTGTCTCTTCCTGCCAT
CATCAGGAATGACTAAATCTTGGAGCGTTCTCCATTTAAGTGAGGGAAATGTTGGATTCCCGGT
GTATTTATCACTGCCCATCTCTAAGAATAGGTCAAAGATGAAATTCCCATTATCATGAAACTTT
AATATATATTGAGACTTCACAGAGCACTAACTATACTGGGGCTGGGATGGGGATTCTGATGAGA
GATATCCCTGACAGAGACCAGAGCTCAGGAGGAAGAAAGGACAGATGCCCTTGTTCAAGATGAC
TTCTTCATGGGCATCGATAGATACATTCTTGAAAACCACCCAAAGTACCTAGAGGAGACCCTAG
TGCAACTGTGCATTGTACAACAACTGATGAGGTAAAAGAAACAAACTGTTAATGACTCTAAACA
ATGTGGCCCACAGAGTTGGTATGGTTTGGCCACACCAGCTCAGGGATAAAGGTACTAGAAAAAA
TCTTGGGGAAAATCCTATTGTACATATTCCTTACATAATGTCTGTGATTTACCTCACTTATCAA
ATGAAAAAAACCCAAAACACCTGGTTGATGGCCATTTGGTCAAACACCTCTAGGAGTCTGGAGT
TGAGTGGCCAGAACTCAGTCTTTCTTTACATGCTGTGTTAAGCAGGCTTTTATCTCATTCAGGT
GTTAGAAGTGGAGGGAGGAACACAGTTAGGCTGTGTTCTACTGCACTGCATAGGGAGGCAGGGT
ATCACCCAGGCACAACGCCCACTTTGCAAGTAAATAATCAGTAGCATGAAGCTCACTTCTGCAG
GACCCACCATGACAAAGTGGAGAGCTGGGCGGTTAACCAGTGAACCAATTGAGTGGCTCTGGGC
TCCTATACCCCTTTCATTCCACAGCCTGTGATACACCCTTAGAGTCAAAATATCAAATTCAGTG
GGCCATGAGTCTTGCCCAAAAGTATAAATCTTTTTTTCATATGGACTATTTGGGTCTATTTTCA
AAAATCCCTTTTTCTTCTCTAAACTATCTCAATTCCACATTTCACTTTGCAGGTGTAGACATGA
CTTTTAGGTTGTTGATGATTTAATGCTATTGAAATGTTCTTATATGCAAAACACCTAGATAGAT
GCAGAGTGTGGGACAAAGACAACCAGCACATTGCTAAGCCCAAGTAGCAAATTTCCTGACCCCA
TTTTAAAGGTTCTGAGACAGATAGGCGGAATAGGTCCCCCTGTCTTTGAGTAGAAGAGTTGGCA
AGCAAGCTGGACTAAATGGGCCATGTGCAATTTTGCTGTCTGTTCACATTTCAAATAAACTAAT
GTGTTATGA

hide sequence

RefSeq Acc Id:

XM_005248601 ⟹ XP_005248658

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	72,320,373 - 72,368,395 (+)	NCBI
GRCh37	5	71,616,200 - 71,656,544 (+)	NCBI

Sequence:

show sequence

AGTAGTTGGTATGGTCCGAGACAGTATGGCTGCTGCATTTCGGCCCTCGAATCGAGTTCTCCTG
CAGGCGCTGCAGATTTTGGTGTATCCTGGGGTGGGAGGCTCCGGCTCTGTCAGCTGCCGCTGCC
CTCTCGGAGCTAAAAGATACCTACTTACAGATAATGTGGTGAAATTAAAAGAATTTCAACAAAA
GAAAGTGGCTGTTGCATGTAATCTTTCTGGCACTAAAGAAACGTATTTTAGAAACTTGAAAAAG
AAACTGACCCAGAACAAGCTCATCTTGAAGGGGGAGTTGATAACCTTACTACATTTGTGTGAGT
CTCGGGACCATGTGGAACTGGCTAAAAATGTCATTTACAGGTACCATGCAGAGAACAAAAATTT
CACTTTGGGGGAGTATAAATTTGGACCGCTTTTTGTGAGGTTGTGTTACGAGTTGGATCTCGAG
GAATCTGCAGTGGAGCTCATGAAAGACCAGCATTTACGAGGTTTCTTCTCAGACTCCACATCAT
TCAATATTTTGATGGATATGTTATTTATCAAAGGCAAATATAAAAGTGCTTTGCAAGTATTGAT
AGAGATGAAAAACCAAGATGTGAAGTTCACCAAAGATACCTATGTTCTTGCTTTTGCAATTTGC
TACAAACTGAATAGCCCTGAGTCTTTCAAAATCTGTACTACATTAAGAGAAGAAGCTCTACTCA
AAGGAGAAATTCTCTCCAGGAGAGCATCCTGTTTCGCTGTGGCATTAGCTCTGAATCAGAATGA
GATGGCAAAAGCTGTGTCCATTTTTTCTCAAATCATGAATCCAGAAAGCATAGCCTGCATTAAT
TTAAATCTGGCCAAAGTGAGGGAAAAAGTGAAGGATGTGCCTGCCCTTGTGGCCAAATTTGATG
AGATCTATGGGACACTGCACATCACTGGCCAGGTCACCACTGATTCTTTGGATGCTGTGCTCTG
CCACACCCCCAGGGACAGGAAATCTCACACGTTGCTATTAAACAAGAGGATGGTCAGCCGTCGC
ACCTTCCAGCCACTCAGCCAGTCCCTGTTGGCTGAGTAACCCTGGTTTCAGTCCACCTATGGAT
CTGAGGGGCCTGCTTCTAGTGAGTTATTACCTTTCCTAAGAAGCCAGGTATCGCACTTCAGCAG
ACAGTGTGCTGACACTTGGTCTTCTCCTGAAATTCCCAAATTCACTGAATGGTACCATGCCGAT
CTCTGAGAAGTTATGTTGCACCACTGTGAAGGTCTAGATGCAAGCTTGGCTCCCTCAGAAAGGC
GCTTCCCTTTTGCATGGCTGAGGATCCTTGAAGGAACCTGGTCAGTCTCCGGTTCAGCTTCCGA
CACCAGAGTGGAACCCAGTAAGCACCATCAGGAATGAATTTCACTACAAGTGTGGATAACTCTG
ATTTTCAAAGGAGTAGTTACTTGCAAATTACATCCTTGCTGAATTCAGGAGGTATGAAACCCTA
TTTTACCATGTTAGAAAACAGCCCAGGATTTTCTCATTGCTCTGCCATCATATATGTCTATGAC
TTGAGCCCTTATTTTTCCATCTGCAAAACAATAATGCCTATGTGTCTTTGCATATAGATTTGAA
ATCTTCATTCAAGGTTTAGTAGGATCATATTTTCTCAAAAATAAGAGAAATAAGGTTCATAAGG
AAACTTGCTGGGATTGTGGTTGTTTTGTTTTCTCAGCAGCACAAACAAAACCAGAATTTAGCCT
TTAGGACTGCTGAGTAAGCCAAATTTAAATGACTACTGCTTTGTTCATGGGTAAGCCATGTGCT
TTTCAAAATAAGTGCCACTAAAAACCACATAATGCTTTGGTTTCTATGTGGATAATAAATATTT
AGTCCTATAGTTTATCTTATTTGTTAATGATTTTTCTCTCTTGAATGCCTCATATTAAAAAAAA
ATGTGCCATGAGAGCA

hide sequence

RefSeq Acc Id:

XM_047417743 ⟹ XP_047273699

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	72,322,182 - 72,368,395 (+)	NCBI

RefSeq Acc Id:

XM_047417744 ⟹ XP_047273700

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	72,326,675 - 72,368,395 (+)	NCBI

RefSeq Acc Id:

XM_047417745 ⟹ XP_047273701

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	72,322,182 - 72,368,395 (+)	NCBI

RefSeq Acc Id:

XM_054353496 ⟹ XP_054209471

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	5	72,801,543 - 72,849,569 (+)	NCBI

RefSeq Acc Id:

XM_054353497 ⟹ XP_054209472

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	5	72,803,352 - 72,849,569 (+)	NCBI

RefSeq Acc Id:

XM_054353498 ⟹ XP_054209473

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	5	72,807,845 - 72,849,569 (+)	NCBI

RefSeq Acc Id:

XM_054353499 ⟹ XP_054209474

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	5	72,803,352 - 72,849,569 (+)	NCBI

RefSeq Acc Id:

XR_007058635

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	72,320,373 - 72,368,395 (+)	NCBI

RefSeq Acc Id:

XR_008487161

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	5	72,801,543 - 72,849,569 (+)	NCBI

RefSeq Acc Id:

XR_008487162

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	5	72,801,543 - 72,849,569 (+)	NCBI

RefSeq Acc Id:

XR_008487163

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	5	72,801,543 - 72,849,569 (+)	NCBI

RefSeq Acc Id:

XR_241790

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	72,320,373 - 72,368,395 (+)	NCBI

Sequence:

show sequence

AGTAGTTGGTATGGTCCGAGACAGTATGGCTGCTGCATTTCGGCCCTCGAATCGAGTTCTCCTG
CAGGCGCTGCAGATTTTGGTGTATCCTGGGGTGGGAGGCTCCGGCTCTGTCAGCTGCCGCTGCC
CTCTCGGAGCTAAAAGATACCTACTTACAGATAATGTGGTGAAATTAAAAGAATTTCAACAAAA
GAAAGTGGCTGTTGCATGTAATCTTTCTGGCACTAAAGAAACGTATTTTAGAAACTTGAAAAAG
AAACTGACCCAGAACAAGCTCATCTTGAAGGGGGAGTTGATAACCTTACTACATTTGTGTGAGT
CTCGGGACCATGTGGAACTGGCTAAAAATGTCATTTACAGGTACCATGCAGAGAACAAAAATTT
CACTTTGGGGGAGTATAAATTTGGACCGCTTTTTGTGAGGTTGTGTTACGAGTTGGATCTCGAG
GAATCTGCAGTGGAGCTCATGAAAGACCAGCATTTACGAGGTTTCTTCTCAGACTCCACATCAT
TCAATATTTTGATGGATATGTTATTTATCAAAGGCAAATATAAAAGTGCTTTGCAAGTATTGAT
AGAGATGAAAAACCAAGATGTGAAGTTCACCAAAGATACCTATGTTCTTGCTTTTGCAATTTGC
TACAAACTGAATAGCCCTGAGTCTTTCAAAATCTGTACTACATTAAGAGAAGAAGCTCTACTCA
AAGGAGAAATTCTCTCCAGGAGAGCATCCTGTTTCGCTGTGGCATTAGCTCTGAATCAGAATGA
GATGGCAAAAGCTGTGTCCATTTTTTCTCAAATCATGAATCCAGAAAGCATAGCCTGCATTAAT
TTAAATATTATAATCCATATCCAGTCAAATATGTTGGAAAACCTGATAAAGACTCTAAAAAATG
CTGCAGAAGGAAATTTATCAAAATTTGTGAAAAGACATGTGTTCTCGGAGGAAGTGCTGGCCAA
AGTGAGGGAAAAAGTGAAGGATGTGCCTGCCCTTGTGGCCAAATTTGATGAGATCTATGGGACA
CTGCACATCACTGGCCAGGTCACCACTGATTCTTTGGATGCTGTGCTCTGCCACACCCCCAGGG
ACAGGAAATCTCACACGTTGCTATTAAACAAGAGGATGGTCAGCCGTCGCACCTTCCAGCCACT
CAGCCAGTCCCTGTTGGCTGAGTAACCCTGGTTTCAGTCCACCTATGGATCTGAGGGGCCTGCT
TCTAGTGAGTTATTACCTTTCCTAAGAAGCCAGGTATCGCACTTCAGCAGACAGTGTGCTGACA
CTTGGTCTTCTCCTGAAATTCCCAAATTCACTGAATGGTACCATGCCGATCTCTGAGAAGTTAT
GTTGCACCACTGTGAAGGTCTAGATGCAAGCTTGGCTCCCTCAGAAAGGCGCTTCCCTTTTGCA
TGGCTGAGGATCCTTGAAGGAACCTGGTCAGTCTCCGGTTCAGCTTCCGACACCAGAGTGGAAC
CCAGTAAGCACCATCAGGAATGAATTTCACTACAAGTGTGGATAACTCTGATTTTCAAAGGAGT
AGTTACTTGCAAATTACATCCTTGCTGAATTCAGGAGGTTAAGGAAACGATCCATGCAAGAGAG
GCCCAATCTCAACTGTAGACTGTGTCCCAGTAAGAGAGTCACAGCTTCAGGTGTTTGCTGAATC
CAGGTCTGAGATCACAATCCCACCTGAGGACAGGATCCGCATATGAGAGTCGCACATTGGTATA
ATTGATTTGTGGTAGAGCTGAGATTAGAATCCAGATTCCTAGTCTAGTATCCTTCCCACTGTAC
CACATTATCTCTTTTCAGAGGGGAAAAAGGAGCAGCTCTTAAGAAACAGAATACTAAGGGCCCC
CATTACTGTGTGGCCCTGGGCATCCTCAGTTTCCTCATTTGGTAAATGGGGATAATGGTACCGA
CCTCTTAGGCTTGGTGTGAGGATGAAATGAGATAGGGAATATAAAGCAAGCAGATAGTGGCTGG
CACATAGTACATGCAATATGTTTGAAACTAGTTAAGGAATTATAAAAACAAATGAGTTCTTCCT
TCTGCTCAAAAATATTGAATTTCTTGTCCTTGTGCTCTGTGAAACATTGAACAGCCCCATTTAG
AGAAACAAATTCTCTGCCCTCATAGAATCCTAATTGTTTCTGTATGTGTCTGGTGTTTTGCACA
TGCAAAAAAAAAAAAAAAA

hide sequence

RefSeq Acc Id:

XR_948298

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	72,320,373 - 72,368,395 (+)	NCBI

Sequence:

show sequence

AGTAGTTGGTATGGTCCGAGACAGTATGGCTGCTGCATTTCGGCCCTCGAATCGAGTTCTCCTG
CAGGCGCTGCAGATTTTGGTGTATCCTGGGGTGGGAGGCTCCGGCTCTGTCAGCTGCCGCTGCC
CTCTCGGAGCTAAAAGATACCTACTTACAGATAATGTGGTGAAATTAAAAGAATTTCAACAAAA
GAAAGTGGCTGTTGCATGTAATCTTTCTGGCACTAAAGAAACGTATTTTAGAAACTTGAAAAAG
AAACTGACCCAGAACAAGCTCATCTTGAAGGGGGAGTTGATAACCTTACTACATTTGTGTGAGT
CTCGGGACCATGTGGAACTGGCTAAAAATGTCATTTACAGGTACCATGCAGAGAACAAAAATTT
CACTTTGGGGGAGTATAAATTTGGACCGCTTTTTGTGAGGTTGTGTTACGAGTTGGATCTCGAG
GAATCTGCAGTGGAGCTCATGAAAGACCAGCATTTACGAGGTTTCTTCTCAGACTCCACATCAT
TCAATATTTTGATGGATATGTTATTTATCAAAGGCAAATATAAAAGTGCTTTGCAAGTATTGAT
AGAGATGAAAAACCAAGATGTGAAGTTCACCAAAGATACCTATGTTCTTGCTTTTGCAATTTGC
TACAAACTGAATAGCCCTGAGTCTTTCAAAATCTGTACTACATTAAGAGAAGAAGCTCTACTCA
AAGGAGAAATTCTCTCCAGGAGAGCATCCTGTTTCGCTGTGGCATTAGCTCTGAATCAGAATGA
GATGGCAAAAGCTGTGTCCATTTTTTCTCAAATCATGAATCCAGAAAGCATAGCCTGCATTAAT
TTAAATATTATAATCCATATCCAGTCAAATATGTTGGAAAACCTGATAAAGACTCTAAAAAATG
CTGCAGAAGGAAATTTATCAAAATTTGTGAAAAGACATGTGTTCTCGGAGGAAGTGCTGGCCAA
AGTGAGGGAAAAAGTGAAGGATGTGCCTGCCCTTGTGGCCAAATTTGATGAGATCTATGGGACA
CTGCACATCACTGGCCAGGTCACCACTGATTCTTTGGATGCTGTGCTCTGCCACACCCCCAGGG
ACAGGAAATCTCACACGTTGCTATTAAACAAGAGGATGGTCAGCCGTCGCACCTTCCAGCCACT
CAGCCAGTCCCTGTTGGCTGAGTAACCCTGGTTTCAGTCCACCTATGGATCTGAGGGGCCTGCT
TCTAGTGAGTTATTACCTTTCCTAAGAAGCCAGGTATCGCACTTCAGCAGACAGTGTGCTGACA
CTTGGTCTTCTCCTGAAATTCCCAAATTCACTGAATGGTACCATGCCGATCTCTGAGAAGTTAT
GTTGCACCACTGTGAAGGTCTAGATGCAAGCTTGGCTCCCTCAGAAAGGCGCTTCCCTTTTGCA
TGGCTGAGGATCCTTGAAGGAACCTGGTCAGTCTCCGGTTCAGCTTCCGACACCAGAGTGGAAC
CCAGTAAGCACCATCAGGAATGAATTTCACTACAAGTGTGGATAACTCTGATTTTCAAAGGAGT
AGTTACTTGCAAATTACATCCTTGCTGAATTCAGGAGAAAGCCCAGAGGGTTGCTCAGACCTCA
GGAGCTGTCTGCCAAGATTGCTGCAGACTCTTCATTGCCACCTCCAAAACTAAGACTGTTCACT
TGGTTGTTGTTCTAAGGCAAGGATTATAGAGTCAGAAATTGTAGACTAGGAGAAGTCTTCTGAG
TCTCCTAATTAATTCCTTCATC

hide sequence

Protein Sequences


Protein RefSeqs	NP_001271332	(Get FASTA)	NCBI Sequence Viewer
	NP_001271333	(Get FASTA)	NCBI Sequence Viewer
	NP_001271334	(Get FASTA)	NCBI Sequence Viewer
	NP_079030	(Get FASTA)	NCBI Sequence Viewer
	XP_005248658	(Get FASTA)	NCBI Sequence Viewer
	XP_047273699	(Get FASTA)	NCBI Sequence Viewer
	XP_047273700	(Get FASTA)	NCBI Sequence Viewer
	XP_047273701	(Get FASTA)	NCBI Sequence Viewer
	XP_054209471	(Get FASTA)	NCBI Sequence Viewer
	XP_054209472	(Get FASTA)	NCBI Sequence Viewer
	XP_054209473	(Get FASTA)	NCBI Sequence Viewer
	XP_054209474	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH18720	(Get FASTA)	NCBI Sequence Viewer
	BAB14162	(Get FASTA)	NCBI Sequence Viewer
	BAG51808	(Get FASTA)	NCBI Sequence Viewer
	BAH12866	(Get FASTA)	NCBI Sequence Viewer
	BAH14003	(Get FASTA)	NCBI Sequence Viewer
	BAH14048	(Get FASTA)	NCBI Sequence Viewer
	CAG33571	(Get FASTA)	NCBI Sequence Viewer
	EAW95704	(Get FASTA)	NCBI Sequence Viewer
	EAW95705	(Get FASTA)	NCBI Sequence Viewer
	EAW95706	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000308948.5
	ENSP00000370013
	ENSP00000370013.4
	ENSP00000425606.1
	ENSP00000425773.1
	ENSP00000426295
	ENSP00000426295.2
	ENSP00000427349
	ENSP00000427349.1
	ENSP00000427524.1
	ENSP00000429665.1
	ENSP00000438810
	ENSP00000438810.2
	ENSP00000444772
	ENSP00000444772.1
GenBank Protein	Q8WV60	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_079030 ⟸ NM_024754
- Peptide Label:	isoform 1
- UniProtKB:	Q6IA65 (UniProtKB/Swiss-Prot), E9PFV7 (UniProtKB/Swiss-Prot), B7Z8L7 (UniProtKB/Swiss-Prot), B7Z5D0 (UniProtKB/Swiss-Prot), Q9H9R0 (UniProtKB/Swiss-Prot), Q8WV60 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MVRDSMAAAFRPSNRVLLQALQILVYPGVGGSGSVSCRCPLGAKRYLLTDNVVKLKEFQQKKVA VACNLSGTKETYFRNLKKKLTQNKLILKGELITLLHLCESRDHVELAKNVIYRYHAENKNFTLG EYKFGPLFVRLCYELDLEESAVELMKDQHLRGFFSDSTSFNILMDMLFIKGKYKSALQVLIEMK NQDVKFTKDTYVLAFAICYKLNSPESFKICTTLREEALLKGEILSRRASCFAVALALNQNEMAK AVSIFSQIMNPESIACINLNIIIHIQSNMLENLIKTLKNAAEGNLSKFVKRHVFSEEVLAKVRE KVKDVPALVAKFDEIYGTLHITGQVTTDSLDAVLCHTPRDRKSHTLLLNKRMVSRRTFQPLSQS LLAE hide sequence

RefSeq Acc Id:

XP_005248658 ⟸ XM_005248601

- Peptide Label:

isoform X1

- Sequence:

show sequence

MVRDSMAAAFRPSNRVLLQALQILVYPGVGGSGSVSCRCPLGAKRYLLTDNVVKLKEFQQKKVA
VACNLSGTKETYFRNLKKKLTQNKLILKGELITLLHLCESRDHVELAKNVIYRYHAENKNFTLG
EYKFGPLFVRLCYELDLEESAVELMKDQHLRGFFSDSTSFNILMDMLFIKGKYKSALQVLIEMK
NQDVKFTKDTYVLAFAICYKLNSPESFKICTTLREEALLKGEILSRRASCFAVALALNQNEMAK
AVSIFSQIMNPESIACINLNLAKVREKVKDVPALVAKFDEIYGTLHITGQVTTDSLDAVLCHTP
RDRKSHTLLLNKRMVSRRTFQPLSQSLLAE

hide sequence

RefSeq Acc Id:	NP_001271334 ⟸ NM_001284405
- Peptide Label:	isoform 4
- UniProtKB:	F6S289 (UniProtKB/TrEMBL), D6RGK0 (UniProtKB/TrEMBL)
- Sequence:	show sequence MKNQDVKFTKDTYVLAFAICYKLNSPESFKICTTLREEALLKGEILSRRASCFAVALALNQNEM AKAVSIFSQIMNPESIACINLNIIIHIQSNMLENLIKTLKNAAEGNLSKFVKRHVFSEEVLAKV REKVKDVPALVAKFDEIYGTLHITGQVTTDSLDAVLCHTPRDRKSHTLLLNKRMVSRRTFQPLS QSLLAE hide sequence

RefSeq Acc Id:	NP_001271333 ⟸ NM_001284404
- Peptide Label:	isoform 3
- UniProtKB:	D6RGK0 (UniProtKB/TrEMBL)
- Sequence:	show sequence MWNWLKMSFTGALQVLIEMKNQDVKFTKDTYVLAFAICYKLNSPESFKICTTLREEALLKGEIL SRRASCFAVALALNQNEMAKAVSIFSQIMNPESIACINLNIIIHIQSNMLENLIKTLKNAAEGN LSKFVKRHVFSEEVLAKVREKVKDVPALVAKFDEIYGTLHITGQVTTDSLDAVLCHTPRDRKSH TLLLNKRMVSRRTFQPLSQSLLAE hide sequence

RefSeq Acc Id:	NP_001271332 ⟸ NM_001284403
- Peptide Label:	isoform 2
- UniProtKB:	Q8WV60 (UniProtKB/Swiss-Prot), B3KPU6 (UniProtKB/TrEMBL)
- Sequence:	show sequence MVRDSMAAAFRPSNRVLLQALQILVYPGVGGSGSVSCRCPLGAKRYLLTDNVVKLKEFQQKKVA VACNLSGTKGALQVLIEMKNQDVKFTKDTYVLAFAICYKLNSPESFKICTTLREEALLKGEILS RRASCFAVALALNQNEMAKAVSIFSQIMNPESIACINLNIIIHIQSNMLENLIKTLKNAAEGNL SKFVKRHVFSEEVLAKVREKVKDVPALVAKFDEIYGTLHITGQVTTDSLDAVLCHTPRDRKSHT LLLNKRMVSRRTFQPLSQSLLAE hide sequence

Ensembl Acc Id:

ENSP00000425773 ⟸ ENST00000503315

Ensembl Acc Id:

ENSP00000427349 ⟸ ENST00000503868

Ensembl Acc Id:

ENSP00000438810 ⟸ ENST00000543322

Ensembl Acc Id:

ENSP00000308948 ⟸ ENST00000308077

Ensembl Acc Id:

ENSP00000444772 ⟸ ENST00000536805

Ensembl Acc Id:

ENSP00000426295 ⟸ ENST00000510676

Ensembl Acc Id:

ENSP00000429665 ⟸ ENST00000511752

Ensembl Acc Id:

ENSP00000425606 ⟸ ENST00000486995

Ensembl Acc Id:

ENSP00000370013 ⟸ ENST00000380639

Ensembl Acc Id:

ENSP00000427524 ⟸ ENST00000515198

RefSeq Acc Id:	XP_047273699 ⟸ XM_047417743
- Peptide Label:	isoform X2
- UniProtKB:	D6RGK0 (UniProtKB/TrEMBL), B3KPU6 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_047273701 ⟸ XM_047417745
- Peptide Label:	isoform X4
- UniProtKB:	D6RGK0 (UniProtKB/TrEMBL), F6S289 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_047273700 ⟸ XM_047417744
- Peptide Label:	isoform X3
- UniProtKB:	D6RGK0 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054209471 ⟸ XM_054353496
- Peptide Label:	isoform X1

RefSeq Acc Id:	XP_054209472 ⟸ XM_054353497
- Peptide Label:	isoform X2
- UniProtKB:	D6RGK0 (UniProtKB/TrEMBL), B3KPU6 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054209474 ⟸ XM_054353499
- Peptide Label:	isoform X4
- UniProtKB:	D6RGK0 (UniProtKB/TrEMBL), F6S289 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054209473 ⟸ XM_054353498
- Peptide Label:	isoform X3
- UniProtKB:	D6RGK0 (UniProtKB/TrEMBL)

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q8WV60-F1-model_v2	AlphaFold	Q8WV60	1-388	view protein structure

Promoters

RGD ID:

6803380

Promoter ID:

HG_KWN:50437

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:

NM_024754, OTTHUMT00000218560, OTTHUMT00000303974, UC003KCA.2, UC003KCC.1, UC003KCD.2, UC010IZA.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	5	71,651,861 - 71,653,162 (-)	MPROMDB

RGD ID:

6869850

Promoter ID:

EPDNEW_H8090

Type:

multiple initiation site

Name:

PTCD2_1

Description:

pentatricopeptide repeat domain 2

SO ACC ID:

SO:0000170

Source:

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

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	72,320,373 - 72,320,433	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:25734	AgrOrtholog
COSMIC	PTCD2	COSMIC
Ensembl Genes	ENSG00000049883	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000308077.9	UniProtKB/Swiss-Prot
	ENST00000380639	ENTREZGENE
	ENST00000380639.10	UniProtKB/Swiss-Prot
	ENST00000486995.5	UniProtKB/TrEMBL
	ENST00000503315.5	UniProtKB/TrEMBL
	ENST00000503868	ENTREZGENE
	ENST00000503868.5	UniProtKB/Swiss-Prot
	ENST00000510676	ENTREZGENE
	ENST00000510676.6	UniProtKB/TrEMBL
	ENST00000511752.5	UniProtKB/TrEMBL
	ENST00000515198.5	UniProtKB/TrEMBL
	ENST00000536805	ENTREZGENE
	ENST00000536805.5	UniProtKB/Swiss-Prot
	ENST00000543322	ENTREZGENE
	ENST00000543322.5	UniProtKB/TrEMBL
Gene3D-CATH	1.25.40.10	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000049883	GTEx
HGNC ID	HGNC:25734	ENTREZGENE
Human Proteome Map	PTCD2	Human Proteome Map
InterPro	MRPS27/PTCD2	UniProtKB/Swiss-Prot
	Pentatricopeptide_repeat	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PTCD2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	TPR-like_helical_dom_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:79810	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene	79810	ENTREZGENE
OMIM	615484	OMIM
PANTHER	PENTATRICOPEPTIDE REPEAT-CONTAINING PROTEIN 2, MITOCHONDRIAL	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PTHR14700	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	MRP-S27	UniProtKB/Swiss-Prot
PharmGKB	PA134909110	PharmGKB
PROSITE	PPR	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PROKAR_LIPOPROTEIN	UniProtKB/TrEMBL
UniProt	B3KPU6	ENTREZGENE, UniProtKB/TrEMBL
	B7Z5D0	ENTREZGENE
	B7Z8L7	ENTREZGENE
	B7Z8R2_HUMAN	UniProtKB/TrEMBL
	D6RGK0	ENTREZGENE, UniProtKB/TrEMBL
	D6RIZ0_HUMAN	UniProtKB/TrEMBL
	D6RJH8_HUMAN	UniProtKB/TrEMBL
	E5RHU2_HUMAN	UniProtKB/TrEMBL
	E9PFV7	ENTREZGENE
	F6S289	ENTREZGENE, UniProtKB/TrEMBL
	PTCD2_HUMAN	UniProtKB/Swiss-Prot
	Q6IA65	ENTREZGENE
	Q8WV60	ENTREZGENE
	Q9H9R0	ENTREZGENE
UniProt Secondary	B7Z5D0	UniProtKB/Swiss-Prot
	B7Z8L7	UniProtKB/Swiss-Prot
	E9PFV7	UniProtKB/Swiss-Prot
	Q6IA65	UniProtKB/Swiss-Prot
	Q9H9R0	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)

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Imported Disease Annotations - ClinVar