MISP (mitotic spindle positioning)

Gene: MISP (mitotic spindle positioning) Homo sapiens

Analyze

Symbol:

MISP

Name:

mitotic spindle positioning

RGD ID:

1317766

HGNC Page

HGNC:27000

Description:

Enables actin filament binding activity. Involved in several processes, including establishment of centrosome localization; microtubule cytoskeleton organization involved in mitosis; and regulation of protein localization to cell cortex. Located in several cellular components, including cytoskeleton; focal adhesion; and plasma membrane.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

C19orf21; caprice; DKFZp686H18209; hypothetical protein LOC126353; MISP1; mitotic interactor and substrate of Plk1; mitotic spindle positioning protein; uncharacterized protein C19orf21

RGD Orthologs

Alliance Genes

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):	Misp (mitotic spindle positioning)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Misp (mitotic spindle positioning)	HGNC	EggNOG, Ensembl, HomoloGene, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Misp (mitotic spindle positioning)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	MISP (mitotic spindle positioning)	NCBI	Ortholog
Canis lupus familiaris (dog):	MISP (mitotic spindle positioning)	HGNC	EggNOG, Ensembl, NCBI, OMA, OrthoDB, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Misp (mitotic spindle positioning)	NCBI	Ortholog
Sus scrofa (pig):	MISP (mitotic spindle positioning)	HGNC	EggNOG, Ensembl, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	MISP (mitotic spindle positioning)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Misp (mitotic spindle positioning)	NCBI	Ortholog
Alliance orthologs ³
Mus musculus (house mouse):	Misp (mitotic spindle positioning)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Rattus norvegicus (Norway rat):	Misp (mitotic spindle positioning)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	si:ch211-262i1.3	Alliance	DIOPT (Hieranoid\|OrthoInspector\|PANTHER\|SonicParanoid\|ZFIN)

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	19	748,438 - 764,318 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	19	751,112 - 764,318 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	19	751,112 - 764,318 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	19	702,146 - 715,318 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	19	702,145 - 715,319	NCBI
Celera	19	52,059 - 65,229 (-)	NCBI		Celera
Cytogenetic Map	19	p13.3	NCBI
HuRef	19	520,795 - 533,963 (+)	NCBI		HuRef
CHM1_1	19	750,590 - 763,759 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	19	702,466 - 718,374 (+)	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

cerebral creatine deficiency syndrome (IAGP)

cyclic hematopoiesis (IAGP)

genetic disease (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

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

1,2-dimethylhydrazine (ISO)

17beta-estradiol (EXP)

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

4,4'-sulfonyldiphenol (ISO)

acetamide (ISO)

aristolochic acid A (EXP)

arsane (EXP)

arsenic atom (EXP)

arsenite(3-) (EXP)

arsenous acid (EXP)

benzo[a]pyrene (EXP)

bisphenol A (ISO)

caffeine (EXP)

cisplatin (EXP)

copper(II) sulfate (EXP)

coumarin (EXP)

cyclosporin A (EXP)

diarsenic trioxide (EXP)

elemental selenium (EXP)

folic acid (ISO)

gentamycin (ISO)

hexadecanoic acid (EXP)

ivermectin (EXP)

perfluorohexanesulfonic acid (EXP)

perfluorononanoic acid (EXP)

perfluorooctane-1-sulfonic acid (ISO)

perfluorooctanoic acid (EXP)

quercetin (EXP)

resveratrol (EXP)

selenium atom (EXP)

sodium arsenite (ISO)

tributylstannane (ISO)

tris(2-butoxyethyl) phosphate (EXP)

urethane (EXP)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

cell division (IEA)

cell migration (IMP)

establishment of centrosome localization (IMP)

establishment of mitotic spindle orientation (IMP)

mitotic spindle assembly (IMP)

organelle localization (IMP)

regulation of protein localization to cell cortex (IMP)

Cellular Component

actin filament (IMP)

anchoring junction (IEA)

cell cortex (IEA)

cortical actin cytoskeleton (IMP)

cytoplasm (IEA)

cytoskeleton (IEA)

focal adhesion (IDA,IEA,IMP)

intracellular membrane-bounded organelle (IDA)

mitotic spindle astral microtubule end (IMP)

plasma membrane (IDA)

spindle pole centrosome (IMP)

Molecular Function

actin binding (IEA)

actin filament binding (IMP)

protein binding (IPI)

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:15489334	PMID:16083285	PMID:16565220	PMID:17081983	PMID:19170763	PMID:20360068	PMID:23509069	PMID:23574715	PMID:24475924	PMID:26496610	PMID:26760575	PMID:27114546
PMID:27342126	PMID:28378594	PMID:28514442	PMID:29117863	PMID:29669740	PMID:30344098	PMID:30413534	PMID:30804502	PMID:31010829	PMID:31180492	PMID:31298480	PMID:31300519
PMID:31324722	PMID:31586073	PMID:31980649	PMID:32296183	PMID:32521226	PMID:32687490	PMID:32780723	PMID:33024031	PMID:33144569	PMID:33397691	PMID:33545068	PMID:33961781
PMID:34023777	PMID:35676659	PMID:35819319	PMID:35833506	PMID:35896951	PMID:35906200	PMID:35973989	PMID:36042349	PMID:36199071	PMID:36215168	PMID:36217030	PMID:36526897
PMID:36574265	PMID:36779422	PMID:38057358	PMID:38330117

Genomics

Comparative Map Data

MISP
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	19	748,438 - 764,318 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	19	751,112 - 764,318 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	19	751,112 - 764,318 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	19	702,146 - 715,318 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	19	702,145 - 715,319	NCBI
Celera	19	52,059 - 65,229 (-)	NCBI		Celera
Cytogenetic Map	19	p13.3	NCBI
HuRef	19	520,795 - 533,963 (+)	NCBI		HuRef
CHM1_1	19	750,590 - 763,759 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	19	702,466 - 718,374 (+)	NCBI		T2T-CHM13v2.0

Misp
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	10	79,656,853 - 79,666,286 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	10	79,656,823 - 79,666,324 (+)	Ensembl		GRCm39 Ensembl
GRCm38	10	79,821,019 - 79,830,452 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	10	79,820,989 - 79,830,490 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	10	79,283,766 - 79,293,197 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	10	79,224,150 - 79,233,581 (+)	NCBI		MGSCv36	mm8
Celera	10	80,835,820 - 80,845,252 (+)	NCBI		Celera
Cytogenetic Map	10	C1	NCBI
cM Map	10	39.72	NCBI

Misp
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	7	10,526,980 - 10,537,159 (-)	NCBI		GRCr8
mRatBN7.2	7	9,870,390 - 9,886,541 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	7	9,870,444 - 9,886,541 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	7	12,756,866 - 12,767,052 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	7	14,634,945 - 14,645,132 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	7	12,494,741 - 12,504,920 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	7	12,691,834 - 12,707,927 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	7	12,697,743 - 12,707,922 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	7	12,861,587 - 12,877,644 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	7	11,389,248 - 11,399,427 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	7	8,051,026 - 8,061,205 (-)	NCBI		Celera
Cytogenetic Map	7	q11	NCBI

Misp
(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_004955495	7,032,876 - 7,038,916 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955495	7,034,664 - 7,044,886 (-)	NCBI	ChiLan1.0	ChiLan1.0

MISP
(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	20	5,076,766 - 5,093,880 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	19	4,314,863 - 4,331,763 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	19	369,238 - 383,633 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	19	717,766 - 731,942 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	19	717,766 - 731,942 (+)	Ensembl	panpan1.1		panPan2

MISP
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	20	57,839,423 - 57,847,013 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	20	57,838,731 - 57,843,219 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	20	57,641,618 - 57,647,893 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	20	58,581,930 - 58,588,205 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	20	58,581,165 - 58,585,729 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	20	57,636,448 - 57,642,628 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	20	58,115,878 - 58,122,076 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	20	58,319,170 - 58,325,443 (-)	NCBI		UU_Cfam_GSD_1.0

Misp
(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_024405118	217,540,716 - 217,550,768 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936588	290,662 - 294,248 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936588	290,620 - 294,058 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

MISP
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	2	77,602,142 - 77,619,087 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	2	77,607,185 - 77,619,124 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	2	78,316,218 - 78,324,105 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

MISP
(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	6	505,841 - 520,758 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	6	506,482 - 520,827 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666081	8,403,707 - 8,451,647 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Misp
(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 1.0	NW_004624828	7,800,424 - 7,812,035 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in MISP
67 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 19p13.3(chr19:259395-819679)x3	copy number gain	See cases [RCV000051144]	Chr19:259395..819679 [GRCh38] Chr19:259395..819679 [GRCh37] Chr19:210395..770679 [NCBI36] Chr19:19p13.3	pathogenic
GRCh38/hg38 19p13.3(chr19:259395-2555149)x3	copy number gain	See cases [RCV000051044]	Chr19:259395..2555149 [GRCh38] Chr19:259395..2555147 [GRCh37] Chr19:210395..2506147 [NCBI36] Chr19:19p13.3	pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:265917-8564134)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]\|See cases [RCV000052876]	Chr19:265917..8564134 [GRCh38] Chr19:265917..8629018 [GRCh37] Chr19:216917..8535018 [NCBI36] Chr19:19p13.3-13.2	pathogenic
GRCh38/hg38 19p13.3(chr19:591812-1358152)x3	copy number gain	See cases [RCV000052877]	Chr19:591812..1358152 [GRCh38] Chr19:591812..1358151 [GRCh37] Chr19:542812..1309151 [NCBI36] Chr19:19p13.3	pathogenic
GRCh38/hg38 19p13.3(chr19:259395-1952650)x3	copy number gain	See cases [RCV000052875]	Chr19:259395..1952650 [GRCh38] Chr19:259395..1952649 [GRCh37] Chr19:210395..1903649 [NCBI36] Chr19:19p13.3	pathogenic
GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	copy number gain	See cases [RCV000052575]	Chr19:233565..4699472 [GRCh38] Chr19:233565..4699484 [GRCh37] Chr19:184565..4650484 [NCBI36] Chr19:19p13.3	pathogenic
GRCh38/hg38 19p13.3(chr19:677680-899104)x3	copy number gain	See cases [RCV000054105]	Chr19:677680..899104 [GRCh38] Chr19:677680..899104 [GRCh37] Chr19:628680..850104 [NCBI36] Chr19:19p13.3	uncertain significance
GRCh38/hg38 19p13.3(chr19:259195-1351363)x1	copy number loss	See cases [RCV000053910]	Chr19:259195..1351363 [GRCh38] Chr19:259195..1351362 [GRCh37] Chr19:210195..1302362 [NCBI36] Chr19:19p13.3	pathogenic
GRCh38/hg38 19p13.3(chr19:266117-1076399)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053911]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053911]\|See cases [RCV000053911]	Chr19:266117..1076399 [GRCh38] Chr19:266117..1076398 [GRCh37] Chr19:217117..1027398 [NCBI36] Chr19:19p13.3	pathogenic
NM_173481.2(MISP):c.2039G>A (p.Ter680=)	single nucleotide variant	Malignant melanoma [RCV000072444]	Chr19:763589 [GRCh38] Chr19:763589 [GRCh37] Chr19:714589 [NCBI36] Chr19:19p13.3	not provided
NM_001040134.1(PALM):c.826C>T (p.Leu276Phe)	single nucleotide variant	Malignant melanoma [RCV000072441]	Chr19:746608 [GRCh38] Chr19:746608 [GRCh37] Chr19:697608 [NCBI36] Chr19:19p13.3	not provided
GRCh38/hg38 19p13.3(chr19:421537-2897921)x3	copy number gain	See cases [RCV000134894]	Chr19:421537..2897921 [GRCh38] Chr19:421537..2897919 [GRCh37] Chr19:372537..2848919 [NCBI36] Chr19:19p13.3	likely pathogenic
GRCh38/hg38 19p13.3(chr19:259395-2068507)x3	copy number gain	See cases [RCV000135433]	Chr19:259395..2068507 [GRCh38] Chr19:259395..2068506 [GRCh37] Chr19:210395..2019506 [NCBI36] Chr19:19p13.3	pathogenic
GRCh38/hg38 19p13.3(chr19:275925-1892276)x3	copy number gain	See cases [RCV000141358]	Chr19:275925..1892276 [GRCh38] Chr19:275925..1892275 [GRCh37] Chr19:226925..1843275 [NCBI36] Chr19:19p13.3	pathogenic
GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	copy number gain	See cases [RCV000142627]	Chr19:259395..6795611 [GRCh38] Chr19:259395..6795622 [GRCh37] Chr19:210395..6746622 [NCBI36] Chr19:19p13.3	pathogenic
GRCh37/hg19 19p13.3(chr19:260912-1163934)x3	copy number gain	See cases [RCV000239425]	Chr19:260912..1163934 [GRCh37] Chr19:19p13.3	pathogenic
GRCh37/hg19 19p13.3(chr19:277373-2555164)x3	copy number gain	See cases [RCV000240507]	Chr19:277373..2555164 [GRCh37] Chr19:19p13.3	pathogenic
NM_173481.4(MISP):c.730G>A (p.Val244Met)	single nucleotide variant	Inborn genetic diseases [RCV003244963]	Chr19:757676 [GRCh38] Chr19:757676 [GRCh37] Chr19:19p13.3	uncertain significance
GRCh37/hg19 19p13.3(chr19:259395-3152419)	copy number gain	Global developmental delay [RCV000626520]	Chr19:259395..3152419 [GRCh37] Chr19:19p13.3	likely pathogenic
GRCh37/hg19 19p13.3(chr19:260911-1965786)x3	copy number gain	See cases [RCV000511452]	Chr19:260911..1965786 [GRCh37] Chr19:19p13.3	likely pathogenic
GRCh37/hg19 19p13.3(chr19:415092-715725)x3	copy number gain	See cases [RCV000511102]	Chr19:415092..715725 [GRCh37] Chr19:19p13.3	likely benign
NM_173481.4(MISP):c.569A>C (p.Gln190Pro)	single nucleotide variant	Inborn genetic diseases [RCV003279342]	Chr19:757515 [GRCh38] Chr19:757515 [GRCh37] Chr19:19p13.3	uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	copy number gain	See cases [RCV000512296]	Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
NM_173481.4(MISP):c.883C>T (p.Arg295Trp)	single nucleotide variant	Inborn genetic diseases [RCV003260199]	Chr19:757829 [GRCh38] Chr19:757829 [GRCh37] Chr19:19p13.3	uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	copy number gain	See cases [RCV000511289]	Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43	pathogenic\|uncertain significance
NM_173481.4(MISP):c.1168C>T (p.Arg390Trp)	single nucleotide variant	Inborn genetic diseases [RCV003254460]	Chr19:758114 [GRCh38] Chr19:758114 [GRCh37] Chr19:19p13.3	uncertain significance
NM_173481.4(MISP):c.440T>A (p.Ile147Asn)	single nucleotide variant	Inborn genetic diseases [RCV003243940]	Chr19:757386 [GRCh38] Chr19:757386 [GRCh37] Chr19:19p13.3	uncertain significance
GRCh37/hg19 19p13.3(chr19:266117-1094614)x3	copy number gain	not provided [RCV000513059]	Chr19:266117..1094614 [GRCh37] Chr19:19p13.3	likely pathogenic
GRCh37/hg19 19p13.3(chr19:260911-3200875)x3	copy number gain	not provided [RCV000684094]	Chr19:260911..3200875 [GRCh37] Chr19:19p13.3	pathogenic
GRCh37/hg19 19p13.3(chr19:715724-1438636)x3	copy number gain	not provided [RCV000684086]	Chr19:715724..1438636 [GRCh37] Chr19:19p13.3	uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3	copy number gain	not provided [RCV000752439]	Chr19:68029..59110290 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
GRCh37/hg19 19p13.3(chr19:572671-757752)x3	copy number gain	not provided [RCV000739940]	Chr19:572671..757752 [GRCh37] Chr19:19p13.3	benign
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3	copy number gain	not provided [RCV000752444]	Chr19:260912..59097160 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
NM_173481.4(MISP):c.375C>T (p.Arg125=)	single nucleotide variant	not provided [RCV000959956]	Chr19:757321 [GRCh38] Chr19:757321 [GRCh37] Chr19:19p13.3	benign
GRCh37/hg19 19p13.3(chr19:423160-1429367)x3	copy number gain	not provided [RCV000752449]	Chr19:423160..1429367 [GRCh37] Chr19:19p13.3	uncertain significance
NM_173481.4(MISP):c.688G>T (p.Ala230Ser)	single nucleotide variant	not provided [RCV000949414]	Chr19:757634 [GRCh38] Chr19:757634 [GRCh37] Chr19:19p13.3	benign
NM_173481.4(MISP):c.941G>A (p.Arg314Gln)	single nucleotide variant	not provided [RCV000950835]	Chr19:757887 [GRCh38] Chr19:757887 [GRCh37] Chr19:19p13.3	benign
NM_173481.4(MISP):c.519C>T (p.Pro173=)	single nucleotide variant	not provided [RCV000906874]	Chr19:757465 [GRCh38] Chr19:757465 [GRCh37] Chr19:19p13.3	benign
NM_173481.4(MISP):c.334C>T (p.Arg112Cys)	single nucleotide variant	Inborn genetic diseases [RCV003248287]	Chr19:757280 [GRCh38] Chr19:757280 [GRCh37] Chr19:19p13.3	uncertain significance
GRCh37/hg19 19p13.3(chr19:260911-4788357)x3	copy number gain	not provided [RCV000846988]	Chr19:260911..4788357 [GRCh37] Chr19:19p13.3	pathogenic
NM_173481.4(MISP):c.1682T>C (p.Val561Ala)	single nucleotide variant	Inborn genetic diseases [RCV003270695]	Chr19:758628 [GRCh38] Chr19:758628 [GRCh37] Chr19:19p13.3	uncertain significance
NM_173481.4(MISP):c.673C>T (p.Pro225Ser)	single nucleotide variant	Inborn genetic diseases [RCV003251480]	Chr19:757619 [GRCh38] Chr19:757619 [GRCh37] Chr19:19p13.3	uncertain significance
NC_000019.9:g.(?_589926)_(1401495_?)dup	duplication	Cerebral creatine deficiency syndrome [RCV001032652]	Chr19:589926..1401495 [GRCh37] Chr19:19p13.3	uncertain significance
NC_000019.9:g.(?_589946)_(4818389_?)dup	duplication	not provided [RCV003105391]	Chr19:589946..4818389 [GRCh37] Chr19:19p13.3	uncertain significance
NC_000019.9:g.(?_589946)_(2151333_?)dup	duplication	Cyclical neutropenia [RCV003107569]	Chr19:589946..2151333 [GRCh37] Chr19:19p13.3	uncertain significance
NM_173481.4(MISP):c.1175C>T (p.Ala392Val)	single nucleotide variant	not provided [RCV000907334]	Chr19:758121 [GRCh38] Chr19:758121 [GRCh37] Chr19:19p13.3	benign
NM_173481.4(MISP):c.91T>C (p.Tyr31His)	single nucleotide variant	not provided [RCV000948466]	Chr19:757037 [GRCh38] Chr19:757037 [GRCh37] Chr19:19p13.3	benign
NM_173481.4(MISP):c.702C>G (p.Phe234Leu)	single nucleotide variant	not provided [RCV000887112]	Chr19:757648 [GRCh38] Chr19:757648 [GRCh37] Chr19:19p13.3	benign
NM_173481.4(MISP):c.408G>A (p.Leu136=)	single nucleotide variant	not provided [RCV000957799]	Chr19:757354 [GRCh38] Chr19:757354 [GRCh37] Chr19:19p13.3	benign
NM_173481.4(MISP):c.537G>A (p.Thr179=)	single nucleotide variant	not provided [RCV000957800]	Chr19:757483 [GRCh38] Chr19:757483 [GRCh37] Chr19:19p13.3	benign
GRCh37/hg19 19p13.3(chr19:260912-4384674)x3	copy number gain	See cases [RCV001007443]	Chr19:260912..4384674 [GRCh37] Chr19:19p13.3	pathogenic
GRCh37/hg19 19p13.3(chr19:260911-3501271)x3	copy number gain	not provided [RCV001007025]	Chr19:260911..3501271 [GRCh37] Chr19:19p13.3	pathogenic
GRCh37/hg19 19p13.3(chr19:260911-2256387)x3	copy number gain	See cases [RCV002285065]	Chr19:260911..2256387 [GRCh37] Chr19:19p13.3	pathogenic
NC_000019.9:g.(?_589926)_(1401495_?)dup	duplication	Cerebral creatine deficiency syndrome [RCV001307813]	Chr19:589926..1401495 [GRCh37] Chr19:19p13.3	uncertain significance
NM_173481.4(MISP):c.68T>C (p.Leu23Pro)	single nucleotide variant	Inborn genetic diseases [RCV003276800]	Chr19:757014 [GRCh38] Chr19:757014 [GRCh37] Chr19:19p13.3	uncertain significance
NC_000019.9:g.(?_589946)_(1650247_?)dup	duplication	not provided [RCV001940167]	Chr19:589946..1650247 [GRCh37] Chr19:19p13.3	uncertain significance
NC_000019.9:g.(?_589946)_(1106571_?)del	deletion	Cyclical neutropenia [RCV001916881]\|not provided [RCV001923747]	Chr19:589946..1106571 [GRCh37] Chr19:19p13.3	pathogenic\|uncertain significance
NC_000019.9:g.(?_589946)_(5696788_?)dup	duplication	not provided [RCV003113597]	Chr19:589946..5696788 [GRCh37] Chr19:19p13.3	uncertain significance
GRCh37/hg19 19p13.3(chr19:260911-1319319)	copy number loss	Peutz-Jeghers syndrome [RCV002280635]	Chr19:260911..1319319 [GRCh37] Chr19:19p13.3	pathogenic
NM_173481.4(MISP):c.1931C>T (p.Ser644Leu)	single nucleotide variant	Inborn genetic diseases [RCV002682063]	Chr19:761644 [GRCh38] Chr19:761644 [GRCh37] Chr19:19p13.3	likely benign
NM_173481.4(MISP):c.1121G>A (p.Arg374Gln)	single nucleotide variant	Inborn genetic diseases [RCV002749466]	Chr19:758067 [GRCh38] Chr19:758067 [GRCh37] Chr19:19p13.3	uncertain significance
NM_173481.4(MISP):c.1466G>A (p.Arg489Gln)	single nucleotide variant	Inborn genetic diseases [RCV002907505]	Chr19:758412 [GRCh38] Chr19:758412 [GRCh37] Chr19:19p13.3	uncertain significance
NM_173481.4(MISP):c.1021C>T (p.Arg341Trp)	single nucleotide variant	Inborn genetic diseases [RCV002728575]	Chr19:757967 [GRCh38] Chr19:757967 [GRCh37] Chr19:19p13.3	uncertain significance
NM_173481.4(MISP):c.1120C>T (p.Arg374Trp)	single nucleotide variant	Inborn genetic diseases [RCV002946838]	Chr19:758066 [GRCh38] Chr19:758066 [GRCh37] Chr19:19p13.3	uncertain significance
NM_173481.4(MISP):c.208G>A (p.Val70Met)	single nucleotide variant	Inborn genetic diseases [RCV002907233]	Chr19:757154 [GRCh38] Chr19:757154 [GRCh37] Chr19:19p13.3	uncertain significance
NM_173481.4(MISP):c.1907A>C (p.Gln636Pro)	single nucleotide variant	Inborn genetic diseases [RCV002687032]	Chr19:760035 [GRCh38] Chr19:760035 [GRCh37] Chr19:19p13.3	uncertain significance
NM_173481.4(MISP):c.1216C>T (p.Arg406Cys)	single nucleotide variant	Inborn genetic diseases [RCV002924216]	Chr19:758162 [GRCh38] Chr19:758162 [GRCh37] Chr19:19p13.3	uncertain significance
NM_173481.4(MISP):c.598T>C (p.Phe200Leu)	single nucleotide variant	Inborn genetic diseases [RCV002869035]	Chr19:757544 [GRCh38] Chr19:757544 [GRCh37] Chr19:19p13.3	uncertain significance
NM_173481.4(MISP):c.530G>A (p.Arg177Gln)	single nucleotide variant	Inborn genetic diseases [RCV002844129]	Chr19:757476 [GRCh38] Chr19:757476 [GRCh37] Chr19:19p13.3	likely benign
NM_173481.4(MISP):c.421C>T (p.Arg141Trp)	single nucleotide variant	Inborn genetic diseases [RCV002823554]	Chr19:757367 [GRCh38] Chr19:757367 [GRCh37] Chr19:19p13.3	uncertain significance
NM_173481.4(MISP):c.106A>G (p.Met36Val)	single nucleotide variant	Inborn genetic diseases [RCV002758296]	Chr19:757052 [GRCh38] Chr19:757052 [GRCh37] Chr19:19p13.3	likely benign
NM_173481.4(MISP):c.1520G>A (p.Arg507His)	single nucleotide variant	Inborn genetic diseases [RCV002911709]	Chr19:758466 [GRCh38] Chr19:758466 [GRCh37] Chr19:19p13.3	uncertain significance
NM_173481.4(MISP):c.283T>G (p.Tyr95Asp)	single nucleotide variant	Inborn genetic diseases [RCV002888977]	Chr19:757229 [GRCh38] Chr19:757229 [GRCh37] Chr19:19p13.3	uncertain significance
NM_173481.4(MISP):c.884G>A (p.Arg295Gln)	single nucleotide variant	Inborn genetic diseases [RCV002784690]	Chr19:757830 [GRCh38] Chr19:757830 [GRCh37] Chr19:19p13.3	uncertain significance
NM_173481.4(MISP):c.1549C>T (p.Pro517Ser)	single nucleotide variant	Inborn genetic diseases [RCV002952110]	Chr19:758495 [GRCh38] Chr19:758495 [GRCh37] Chr19:19p13.3	uncertain significance
NM_173481.4(MISP):c.242G>A (p.Gly81Glu)	single nucleotide variant	Inborn genetic diseases [RCV002980221]	Chr19:757188 [GRCh38] Chr19:757188 [GRCh37] Chr19:19p13.3	uncertain significance
NM_173481.4(MISP):c.181G>T (p.Val61Leu)	single nucleotide variant	Inborn genetic diseases [RCV002697610]	Chr19:757127 [GRCh38] Chr19:757127 [GRCh37] Chr19:19p13.3	uncertain significance
NM_173481.4(MISP):c.961G>C (p.Glu321Gln)	single nucleotide variant	Inborn genetic diseases [RCV002825912]	Chr19:757907 [GRCh38] Chr19:757907 [GRCh37] Chr19:19p13.3	uncertain significance
NM_173481.4(MISP):c.1319C>A (p.Ala440Asp)	single nucleotide variant	Inborn genetic diseases [RCV002767153]	Chr19:758265 [GRCh38] Chr19:758265 [GRCh37] Chr19:19p13.3	uncertain significance
NM_173481.4(MISP):c.1481C>T (p.Ala494Val)	single nucleotide variant	Inborn genetic diseases [RCV002916831]	Chr19:758427 [GRCh38] Chr19:758427 [GRCh37] Chr19:19p13.3	uncertain significance
NM_173481.4(MISP):c.1787C>T (p.Thr596Met)	single nucleotide variant	Inborn genetic diseases [RCV002804071]	Chr19:759915 [GRCh38] Chr19:759915 [GRCh37] Chr19:19p13.3	uncertain significance
NM_173481.4(MISP):c.1520G>T (p.Arg507Leu)	single nucleotide variant	Inborn genetic diseases [RCV002745210]	Chr19:758466 [GRCh38] Chr19:758466 [GRCh37] Chr19:19p13.3	uncertain significance
NM_173481.4(MISP):c.427C>T (p.Arg143Cys)	single nucleotide variant	Inborn genetic diseases [RCV002941851]	Chr19:757373 [GRCh38] Chr19:757373 [GRCh37] Chr19:19p13.3	uncertain significance
NM_173481.4(MISP):c.1318G>A (p.Ala440Thr)	single nucleotide variant	Inborn genetic diseases [RCV002747397]	Chr19:758264 [GRCh38] Chr19:758264 [GRCh37] Chr19:19p13.3	uncertain significance
NM_173481.4(MISP):c.181G>A (p.Val61Met)	single nucleotide variant	Inborn genetic diseases [RCV002670607]	Chr19:757127 [GRCh38] Chr19:757127 [GRCh37] Chr19:19p13.3	uncertain significance
NM_173481.4(MISP):c.77A>G (p.Asp26Gly)	single nucleotide variant	Inborn genetic diseases [RCV002812367]	Chr19:757023 [GRCh38] Chr19:757023 [GRCh37] Chr19:19p13.3	uncertain significance
NM_173481.4(MISP):c.757G>A (p.Gly253Arg)	single nucleotide variant	Inborn genetic diseases [RCV002965272]	Chr19:757703 [GRCh38] Chr19:757703 [GRCh37] Chr19:19p13.3	uncertain significance
NM_173481.4(MISP):c.839C>T (p.Ala280Val)	single nucleotide variant	Inborn genetic diseases [RCV002672527]	Chr19:757785 [GRCh38] Chr19:757785 [GRCh37] Chr19:19p13.3	uncertain significance
NM_173481.4(MISP):c.906G>C (p.Glu302Asp)	single nucleotide variant	Inborn genetic diseases [RCV002919931]	Chr19:757852 [GRCh38] Chr19:757852 [GRCh37] Chr19:19p13.3	uncertain significance
NM_173481.4(MISP):c.1621T>A (p.Ser541Thr)	single nucleotide variant	Inborn genetic diseases [RCV002964413]	Chr19:758567 [GRCh38] Chr19:758567 [GRCh37] Chr19:19p13.3	uncertain significance
NM_173481.4(MISP):c.422G>A (p.Arg141Gln)	single nucleotide variant	Inborn genetic diseases [RCV002718389]	Chr19:757368 [GRCh38] Chr19:757368 [GRCh37] Chr19:19p13.3	uncertain significance
NM_173481.4(MISP):c.1888G>A (p.Gly630Arg)	single nucleotide variant	Inborn genetic diseases [RCV002673957]	Chr19:760016 [GRCh38] Chr19:760016 [GRCh37] Chr19:19p13.3	uncertain significance
NM_173481.4(MISP):c.1228C>T (p.Pro410Ser)	single nucleotide variant	Inborn genetic diseases [RCV002769603]	Chr19:758174 [GRCh38] Chr19:758174 [GRCh37] Chr19:19p13.3	uncertain significance
NM_173481.4(MISP):c.279G>C (p.Gln93His)	single nucleotide variant	Inborn genetic diseases [RCV002723442]	Chr19:757225 [GRCh38] Chr19:757225 [GRCh37] Chr19:19p13.3	uncertain significance
NM_173481.4(MISP):c.1666C>T (p.Arg556Cys)	single nucleotide variant	Inborn genetic diseases [RCV003189464]	Chr19:758612 [GRCh38] Chr19:758612 [GRCh37] Chr19:19p13.3	uncertain significance
NM_173481.4(MISP):c.1169G>A (p.Arg390Gln)	single nucleotide variant	Inborn genetic diseases [RCV003185140]	Chr19:758115 [GRCh38] Chr19:758115 [GRCh37] Chr19:19p13.3	uncertain significance
NM_173481.4(MISP):c.1280C>A (p.Pro427Gln)	single nucleotide variant	Inborn genetic diseases [RCV003218649]	Chr19:758226 [GRCh38] Chr19:758226 [GRCh37] Chr19:19p13.3	uncertain significance
NM_173481.4(MISP):c.1621T>C (p.Ser541Pro)	single nucleotide variant	Inborn genetic diseases [RCV003180437]	Chr19:758567 [GRCh38] Chr19:758567 [GRCh37] Chr19:19p13.3	uncertain significance
NM_173481.4(MISP):c.1816T>C (p.Phe606Leu)	single nucleotide variant	Inborn genetic diseases [RCV003209434]	Chr19:759944 [GRCh38] Chr19:759944 [GRCh37] Chr19:19p13.3	likely benign
NM_173481.4(MISP):c.1529G>A (p.Arg510Gln)	single nucleotide variant	Inborn genetic diseases [RCV003184321]	Chr19:758475 [GRCh38] Chr19:758475 [GRCh37] Chr19:19p13.3	uncertain significance
NM_173481.4(MISP):c.1358C>T (p.Ala453Val)	single nucleotide variant	Inborn genetic diseases [RCV003264628]	Chr19:758304 [GRCh38] Chr19:758304 [GRCh37] Chr19:19p13.3	likely benign
NM_173481.4(MISP):c.653G>T (p.Gly218Val)	single nucleotide variant	Inborn genetic diseases [RCV003265637]	Chr19:757599 [GRCh38] Chr19:757599 [GRCh37] Chr19:19p13.3	likely benign
NM_173481.4(MISP):c.1783A>C (p.Ile595Leu)	single nucleotide variant	Inborn genetic diseases [RCV003340062]	Chr19:759911 [GRCh38] Chr19:759911 [GRCh37] Chr19:19p13.3	uncertain significance
NM_173481.4(MISP):c.1513C>T (p.Arg505Cys)	single nucleotide variant	Inborn genetic diseases [RCV003344885]	Chr19:758459 [GRCh38] Chr19:758459 [GRCh37] Chr19:19p13.3	uncertain significance
NM_173481.4(MISP):c.1730C>G (p.Thr577Arg)	single nucleotide variant	Inborn genetic diseases [RCV003353446]	Chr19:758676 [GRCh38] Chr19:758676 [GRCh37] Chr19:19p13.3	uncertain significance
NM_173481.4(MISP):c.1162G>A (p.Gly388Arg)	single nucleotide variant	Inborn genetic diseases [RCV003354113]	Chr19:758108 [GRCh38] Chr19:758108 [GRCh37] Chr19:19p13.3	uncertain significance
GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	copy number gain	not provided [RCV003485190]	Chr19:260912..7246777 [GRCh37] Chr19:19p13.3-13.2	pathogenic
NM_173481.4(MISP):c.1002G>A (p.Leu334=)	single nucleotide variant	not provided [RCV003423141]	Chr19:757948 [GRCh38] Chr19:757948 [GRCh37] Chr19:19p13.3	likely benign
GRCh37/hg19 19p13.3(chr19:260911-1210337)x1	copy number loss	not specified [RCV003986113]	Chr19:260911..1210337 [GRCh37] Chr19:19p13.3	pathogenic
GRCh37/hg19 19p13.3(chr19:352288-1186507)x3	copy number gain	not specified [RCV003986107]	Chr19:352288..1186507 [GRCh37] Chr19:19p13.3	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	369
Count of miRNA genes:	282
Interacting mature miRNAs:	299
Transcripts:	ENST00000215582
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.

Markers in Region

RH48642

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	764,167 - 764,301	UniSTS	GRCh37
Build 36	19	715,167 - 715,301	RGD	NCBI36
Celera	19	52,076 - 52,210	RGD
Cytogenetic Map	19	p13.3	UniSTS
HuRef	19	533,812 - 533,946	UniSTS
GeneMap99-GB4 RH Map	19	1.61	UniSTS

Expression

RNA-SEQ Expression

High: > 1000 TPM value Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

visual system

adipose tissue

appendage

entire extraembryonic component

High

Medium

778

284

157

227

156

338

659

Low

455

317

183

105

1201

462

173

745

438

134

392

583

Below cutoff

1075

2150

965

305

1017

277

2565

1593

2965

365

497

755

1689

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_173481	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_135168	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011527685	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011527686	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054319805	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054319806	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC004030	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AW272530	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC042125	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC052236	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX648389	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX648815	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471242	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068259	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HY163020	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HY173833	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000215582 ⟹ ENSP00000215582

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	751,112 - 764,318 (+)	Ensembl

RefSeq Acc Id:

ENST00000614180

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	758,063 - 760,505 (+)	Ensembl

RefSeq Acc Id:

NM_173481 ⟹ NP_775752

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	751,112 - 764,318 (+)	NCBI
GRCh37	19	750,910 - 764,318 (+)	NCBI
Build 36	19	702,146 - 715,318 (+)	NCBI Archive
Celera	19	52,059 - 65,229 (-)	RGD
HuRef	19	520,795 - 533,963 (+)	RGD
CHM1_1	19	750,557 - 763,760 (+)	NCBI
T2T-CHM13v2.0	19	705,170 - 718,374 (+)	NCBI

Sequence:

show sequence

CTCTGTGCCCATCGAGGAGTCAGAGTGGAGGCTGCAGACTGTGGAGCCGGGAGCCGGCAGTAAG
CCCAGAGGTCTCCACCCCACGGGAGGAAGGCTGAGGCCAAGACCCCGGAAGAGATGGACCGCGT
GACCAGATACCCCATCCTGGGCATCCCTCAGGCACACCGTGGCACCGGCCTGGTGCTGGATGGA
GACACCAGCTACACATACCATCTGGTGTGCATGGGCCCCGAGGCCAGCGGCTGGGGCCAGGATG
AGCCGCAGACATGGCCCACTGACCACAGGGCCCAGCAGGGCGTGCAGAGGCAGGGGGTGTCCTA
CAGCGTGCATGCCTACACTGGCCAGCCGTCCCCACGGGGGCTCCACTCGGAGAACAGGGAGGAT
GAGGGTTGGCAGGTTTACCGCCTGGGCGCCAGGGATGCCCACCAGGGACGTCCAACATGGGCAC
TCCGCCCAGAGGACGGGGAGGACAAGGAGATGAAGACCTACCGCCTGGATGCTGGGGACGCTGA
CCCCAGGAGGCTGTGTGACCTGGAGCGGGAGCGCTGGGCCGTCATCCAGGGCCAGGCAGTCAGG
AAGAGCAGCACCGTGGCCACGCTCCAGGGCACTCCTGACCACGGAGACCCCAGGACCCCCGGCC
CACCTCGGTCCACGCCCCTGGAGGAGAACGTGGTTGACAGGGAGCAGATTGACTTCCTGGCAGC
GAGACAGCAGTTCCTGAGTCTGGAGCAGGCGAACAAGGGGGCCCCTCATAGCTCCCCGGCCAGG
GGGACCCCTGCAGGCACAACCCCAGGGGCCAGCCAGGCCCCCAAGGCCTTCAACAAGCCCCACC
TGGCCAACGGGCACGTGGTTCCCATCAAGCCCCAGGTGAAGGGGGTGGTCAGGGAAGAGAACAA
GGTGCGTGCTGTGCCCACCTGGGCCAGTGTCCAAGTTGTGGATGACCCTGGCTCCTTGGCCTCA
GTGGAGTCCCCGGGGACCCCCAAGGAGACGCCCATCGAGCGGGAGATCCGTCTGGCTCAGGAGC
GTGAGGCAGACCTGCGAGAGCAGAGGGGGCTTCGGCAGGCAACCGACCACCAGGAGCTGGTGGA
AATCCCCACCAGGCCGCTGCTGACCAAGCTGAGCCTGATCACAGCCCCACGGCGGGAGAGAGGG
CGCCCGTCCCTCTACGTGCAGCGGGACATAGTACAGGAGACACAGCGTGAGGAAGACCACCGGC
GGGAGGGCCTGCACGTGGGCCGGGCGTCCACACCCGACTGGGTCTCGGAGGGTCCCCAGCCCGG
ACTCCGGAGAGCCCTCAGCTCAGATTCCATCCTCAGCCCGGCCCCAGATGCCCGTGCGGCCGAC
CCAGCTCCAGAAGTGAGGAAGGTGAACCGCATCCCACCTGATGCCTACCAGCCGTACCTGAGCC
CCGGGACCCCCCAGCTAGAATTCTCAGCCTTCGGAGCATTCGGCAAGCCCAGCAGTCTCTCCAC
AGCGGAGGCCAAGGCTGCGACTTCACCAAAGGCCACGATGTCCCCGAGGCATCTCTCAGAATCC
TCTGGAAAACCCCTGAGCACAAAGCAAGAGGCATCGAAGCCCCCTCGGGGATGCCCGCAAGCCA
ACAGGGGTGTCGTGCGGTGGGAGTACTTCCGCCTGCGTCCTCTGCGGTTCAGGGCCCCAGACGA
GCCCCAGCAGGCCCAAGTCCCCCATGTCTGGGGCTGGGAGGTGGCTGGGGCCCCTGCACTGAGG
CTGCAGAAGTCCCAGTCATCTGATCTGCTGGAAAGGGAGAGGGAGAGTGTCCTGCGCCGGGAGC
AAGAGGTGGCAGAGGAGCGGAGAAATGCTCTCTTCCCAGAGGTCTTCTCCCCAACGCCAGATGA
GAACTCTGACCAGAACTCCAGGAGCTCCTCCCAGGCATCCGGCATCACGGGCAGTTACTCGGTG
TCTGAGTCTCCCTTCTTCAGCCCCATCCACCTACACTCAAACGTGGCGTGGACAGTGGAAGATC
CAGTGGACAGTGCTCCTCCCGGGCAGAGAAAGAAGGAGCAATGGTACGCTGGCATCAACCCCTC
GGACGGTATCAACTCAGAGGTCCTGGAAGCCATACGGGTGACCCGTCACAAGAACGCCATGGCA
GAGCGCTGGGAATCCCGCATCTACGCCAGTGAGGAGGATGACTGAGCCTCGGGATGGGGCGCCC
ACCCCCTGCCCTGCCCTGACCCTCGTGGGAACTGCCAAGACCATCGCCAAGCCCCCACCCTAGG
AAATGGGTCCTAGGTCCAGGATCCAAGAACCACAGCTCATCTGCCAACAATCCCACCATGGGCA
CATTTGGGACTGTTGGGTTTTTCGTTTCCGTTTCTATCTTCCTTTAGAAATGTTTCTGCCTTTG
GGGTCTAAAGCTTTTGGGGATGAAATGGGACCCCTGCTGATTCTTTCTGCTTCTAAGACTTTGC
CAAATGCCCTGGGTCTAAGAAAGAAAGAGACCCGCTCCTCCACTTTCAGGTGTAATTTGCTTCC
GCTAGTCTGAGGGCAGAGGGACCGGTCAAAGAGGGTGGCACAGATCGCAGCACCTTGAGGGGCT
GCGGGTCTGAGGGAGGAGACACTCAGCTCCTCCCTCTGAGAAGTCCCAAGCTGAGAGGGGAGAC
CTGCCCCTTTCCAACCCTGGGAAACCATCCAGTCTGAGGGAGGAGGCCAAACTCCCAGTGCTGG
GGGTCCCTGTGCAGCCCTCAAACCCTTCACCTTGGTGCACCCAGCCACACCTGGTGGACACAAA
GCTCTCACATCGATAGGATCCCATGAGGATGGTCCCCTTCACCTGGGAGAAAAGTGACCCAGTT
TAGGAGCTGGAGGGGGGTCTTTGTCCCCCACCCCCAAACTGCCCTGAAATAAACCTGGAGTGAG
CTGCC

hide sequence

RefSeq Acc Id:

NR_135168

RefSeq Status:

REVIEWED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	751,112 - 764,318 (+)	NCBI
CHM1_1	19	750,557 - 763,760 (+)	NCBI
T2T-CHM13v2.0	19	705,170 - 718,374 (+)	NCBI

Sequence:

show sequence

CTCTGTGCCCATCGAGGAGTCAGAGTGGAGGCTGCAGACTGTGGAGCCGGGAGCCGGCAGGCAT
CACGGGCAGTTACTCGGTGTCTGAGTCTCCCTTCTTCAGCCCCATCCACCTACACTCAAACGTG
GCGTGGACAGTGGAAGATCCAGTGGACAGTGCTCCTCCCGGGCAGAGAAAGAAGGAGCAATGGT
ACGCTGGCATCAACCCCTCGGACGGTATCAACTCAGAGGTCCTGGAAGCCATACGGGTGACCCG
TCACAAGAACGCCATGGCAGAGCGCTGGGAATCCCGCATCTACGCCAGTGAGGAGGATGACTGA
GCCTCGGGATGGGGCGCCCACCCCCTGCCCTGCCCTGACCCTCGTGGGAACTGCCAAGACCATC
GCCAAGCCCCCACCCTAGGAAATGGGTCCTAGGTCCAGGATCCAAGAACCACAGCTCATCTGCC
AACAATCCCACCATGGGCACATTTGGGACTGTTGGGTTTTTCGTTTCCGTTTCTATCTTCCTTT
AGAAATGTTTCTGCCTTTGGGGTCTAAAGCTTTTGGGGATGAAATGGGACCCCTGCTGATTCTT
TCTGCTTCTAAGACTTTGCCAAATGCCCTGGGTCTAAGAAAGAAAGAGACCCGCTCCTCCACTT
TCAGGTGTAATTTGCTTCCGCTAGTCTGAGGGCAGAGGGACCGGTCAAAGAGGGTGGCACAGAT
CGCAGCACCTTGAGGGGCTGCGGGTCTGAGGGAGGAGACACTCAGCTCCTCCCTCTGAGAAGTC
CCAAGCTGAGAGGGGAGACCTGCCCCTTTCCAACCCTGGGAAACCATCCAGTCTGAGGGAGGAG
GCCAAACTCCCAGTGCTGGGGGTCCCTGTGCAGCCCTCAAACCCTTCACCTTGGTGCACCCAGC
CACACCTGGTGGACACAAAGCTCTCACATCGATAGGATCCCATGAGGATGGTCCCCTTCACCTG
GGAGAAAAGTGACCCAGTTTAGGAGCTGGAGGGGGGTCTTTGTCCCCCACCCCCAAACTGCCCT
GAAATAAACCTGGAGTGAGCTGCC

hide sequence

RefSeq Acc Id:

XM_011527685 ⟹ XP_011525987

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	748,438 - 764,318 (+)	NCBI

Sequence:

show sequence

AAGGGAGGCTGAGCAGGGTTGCGGTGTGCTGGCTTCACCTGCCTGCACCCGCTCACCCTGAGCG
CCTTGGGGTGGTGGGAGGCGCTGGAATCCCCACTGTGCAGTAAGCCCAGAGGTCTCCACCCCAC
GGGAGGAAGGCTGAGGCCAAGACCCCGGAAGAGATGGACCGCGTGACCAGATACCCCATCCTGG
GCATCCCTCAGGCACACCGTGGCACCGGCCTGGTGCTGGATGGAGACACCAGCTACACATACCA
TCTGGTGTGCATGGGCCCCGAGGCCAGCGGCTGGGGCCAGGATGAGCCGCAGACATGGCCCACT
GACCACAGGGCCCAGCAGGGCGTGCAGAGGCAGGGGGTGTCCTACAGCGTGCATGCCTACACTG
GCCAGCCGTCCCCACGGGGGCTCCACTCGGAGAACAGGGAGGATGAGGGTTGGCAGGTTTACCG
CCTGGGCGCCAGGGATGCCCACCAGGGACGTCCAACATGGGCACTCCGCCCAGAGGACGGGGAG
GACAAGGAGATGAAGACCTACCGCCTGGATGCTGGGGACGCTGACCCCAGGAGGCTGTGTGACC
TGGAGCGGGAGCGCTGGGCCGTCATCCAGGGCCAGGCAGTCAGGAAGAGCAGCACCGTGGCCAC
GCTCCAGGGCACTCCTGACCACGGAGACCCCAGGACCCCCGGCCCACCTCGGTCCACGCCCCTG
GAGGAGAACGTGGTTGACAGGGAGCAGATTGACTTCCTGGCAGCGAGACAGCAGTTCCTGAGTC
TGGAGCAGGCGAACAAGGGGGCCCCTCATAGCTCCCCGGCCAGGGGGACCCCTGCAGGCACAAC
CCCAGGGGCCAGCCAGGCCCCCAAGGCCTTCAACAAGCCCCACCTGGCCAACGGGCACGTGGTT
CCCATCAAGCCCCAGGTGAAGGGGGTGGTCAGGGAAGAGAACAAGGTGCGTGCTGTGCCCACCT
GGGCCAGTGTCCAAGTTGTGGATGACCCTGGCTCCTTGGCCTCAGTGGAGTCCCCGGGGACCCC
CAAGGAGACGCCCATCGAGCGGGAGATCCGTCTGGCTCAGGAGCGTGAGGCAGACCTGCGAGAG
CAGAGGGGGCTTCGGCAGGCAACCGACCACCAGGAGCTGGTGGAAATCCCCACCAGGCCGCTGC
TGACCAAGCTGAGCCTGATCACAGCCCCACGGCGGGAGAGAGGGCGCCCGTCCCTCTACGTGCA
GCGGGACATAGTACAGGAGACACAGCGTGAGGAAGACCACCGGCGGGAGGGCCTGCACGTGGGC
CGGGCGTCCACACCCGACTGGGTCTCGGAGGGTCCCCAGCCCGGACTCCGGAGAGCCCTCAGCT
CAGATTCCATCCTCAGCCCGGCCCCAGATGCCCGTGCGGCCGACCCAGCTCCAGAAGTGAGGAA
GGTGAACCGCATCCCACCTGATGCCTACCAGCCGTACCTGAGCCCCGGGACCCCCCAGCTAGAA
TTCTCAGCCTTCGGAGCATTCGGCAAGCCCAGCAGTCTCTCCACAGCGGAGGCCAAGGCTGCGA
CTTCACCAAAGGCCACGATGTCCCCGAGGCATCTCTCAGAATCCTCTGGAAAACCCCTGAGCAC
AAAGCAAGAGGCATCGAAGCCCCCTCGGGGATGCCCGCAAGCCAACAGGGGTGTCGTGCGGTGG
GAGTACTTCCGCCTGCGTCCTCTGCGGTTCAGGGCCCCAGACGAGCCCCAGCAGGCCCAAGTCC
CCCATGTCTGGGGCTGGGAGGTGGCTGGGGCCCCTGCACTGAGGCTGCAGAAGTCCCAGTCATC
TGATCTGCTGGAAAGGGAGAGGGAGAGTGTCCTGCGCCGGGAGCAAGAGGTGGCAGAGGAGCGG
AGAAATGCTCTCTTCCCAGAGGTCTTCTCCCCAACGCCAGATGAGAACTCTGACCAGAACTCCA
GGAGCTCCTCCCAGGCATCCGGCATCACGGGCAGTTACTCGGTGTCTGAGTCTCCCTTCTTCAG
CCCCATCCACCTACACTCAAACGTGGCGTGGACAGTGGAAGATCCAGTGGACAGTGCTCCTCCC
GGGCAGAGAAAGAAGGAGCAATGGTACGCTGGCATCAACCCCTCGGACGGTATCAACTCAGAGG
TCCTGGAAGCCATACGGGTGACCCGTCACAAGAACGCCATGGCAGAGCGCTGGGAATCCCGCAT
CTACGCCAGTGAGGAGGATGACTGAGCCTCGGGATGGGGCGCCCACCCCCTGCCCTGCCCTGAC
CCTCGTGGGAACTGCCAAGACCATCGCCAAGCCCCCACCCTAGGAAATGGGTCCTAGGTCCAGG
ATCCAAGAACCACAGCTCATCTGCCAACAATCCCACCATGGGCACATTTGGGACTGTTGGGTTT
TTCGTTTCCGTTTCTATCTTCCTTTAGAAATGTTTCTGCCTTTGGGGTCTAAAGCTTTTGGGGA
TGAAATGGGACCCCTGCTGATTCTTTCTGCTTCTAAGACTTTGCCAAATGCCCTGGGTCTAAGA
AAGAAAGAGACCCGCTCCTCCACTTTCAGGTGTAATTTGCTTCCGCTAGTCTGAGGGCAGAGGG
ACCGGTCAAAGAGGGTGGCACAGATCGCAGCACCTTGAGGGGCTGCGGGTCTGAGGGAGGAGAC
ACTCAGCTCCTCCCTCTGAGAAGTCCCAAGCTGAGAGGGGAGACCTGCCCCTTTCCAACCCTGG
GAAACCATCCAGTCTGAGGGAGGAGGCCAAACTCCCAGTGCTGGGGGTCCCTGTGCAGCCCTCA
AACCCTTCACCTTGGTGCACCCAGCCACACCTGGTGGACACAAAGCTCTCACATCGATAGGATC
CCATGAGGATGGTCCCCTTCACCTGGGAGAAAAGTGACCCAGTTTAGGAGCTGGAGGGGGGTCT
TTGTCCCCCACCCCCAAACTGCCCTGAAATAAACCTGGAGTGAGCTGCC

hide sequence

RefSeq Acc Id:

XM_011527686 ⟹ XP_011525988

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	754,447 - 764,318 (+)	NCBI

Sequence:

show sequence

CGAGACTCTGTCTCAAAACAAAAGACAATACCTAAGACGGGTGCTGGGTACAAGGCCTGACATG
AAGGAGGTGTTCAGATGATGGCTCTGGGGGAGGGGCAATCTGGGTTACTTCCTGGAGGAGGTGT
CCATGGGCTTCAGCAGAGGAAGCCGTGGAGAAGCAGAAACAGGCAGCCTCGAGACAGAGAGAGC
TGCAGTAAGCCCAGAGGTCTCCACCCCACGGGAGGAAGGCTGAGGCCAAGACCCCGGAAGAGAT
GGACCGCGTGACCAGATACCCCATCCTGGGCATCCCTCAGGCACACCGTGGCACCGGCCTGGTG
CTGGATGGAGACACCAGCTACACATACCATCTGGTGTGCATGGGCCCCGAGGCCAGCGGCTGGG
GCCAGGATGAGCCGCAGACATGGCCCACTGACCACAGGGCCCAGCAGGGCGTGCAGAGGCAGGG
GGTGTCCTACAGCGTGCATGCCTACACTGGCCAGCCGTCCCCACGGGGGCTCCACTCGGAGAAC
AGGGAGGATGAGGGTTGGCAGGTTTACCGCCTGGGCGCCAGGGATGCCCACCAGGGACGTCCAA
CATGGGCACTCCGCCCAGAGGACGGGGAGGACAAGGAGATGAAGACCTACCGCCTGGATGCTGG
GGACGCTGACCCCAGGAGGCTGTGTGACCTGGAGCGGGAGCGCTGGGCCGTCATCCAGGGCCAG
GCAGTCAGGAAGAGCAGCACCGTGGCCACGCTCCAGGGCACTCCTGACCACGGAGACCCCAGGA
CCCCCGGCCCACCTCGGTCCACGCCCCTGGAGGAGAACGTGGTTGACAGGGAGCAGATTGACTT
CCTGGCAGCGAGACAGCAGTTCCTGAGTCTGGAGCAGGCGAACAAGGGGGCCCCTCATAGCTCC
CCGGCCAGGGGGACCCCTGCAGGCACAACCCCAGGGGCCAGCCAGGCCCCCAAGGCCTTCAACA
AGCCCCACCTGGCCAACGGGCACGTGGTTCCCATCAAGCCCCAGGTGAAGGGGGTGGTCAGGGA
AGAGAACAAGGTGCGTGCTGTGCCCACCTGGGCCAGTGTCCAAGTTGTGGATGACCCTGGCTCC
TTGGCCTCAGTGGAGTCCCCGGGGACCCCCAAGGAGACGCCCATCGAGCGGGAGATCCGTCTGG
CTCAGGAGCGTGAGGCAGACCTGCGAGAGCAGAGGGGGCTTCGGCAGGCAACCGACCACCAGGA
GCTGGTGGAAATCCCCACCAGGCCGCTGCTGACCAAGCTGAGCCTGATCACAGCCCCACGGCGG
GAGAGAGGGCGCCCGTCCCTCTACGTGCAGCGGGACATAGTACAGGAGACACAGCGTGAGGAAG
ACCACCGGCGGGAGGGCCTGCACGTGGGCCGGGCGTCCACACCCGACTGGGTCTCGGAGGGTCC
CCAGCCCGGACTCCGGAGAGCCCTCAGCTCAGATTCCATCCTCAGCCCGGCCCCAGATGCCCGT
GCGGCCGACCCAGCTCCAGAAGTGAGGAAGGTGAACCGCATCCCACCTGATGCCTACCAGCCGT
ACCTGAGCCCCGGGACCCCCCAGCTAGAATTCTCAGCCTTCGGAGCATTCGGCAAGCCCAGCAG
TCTCTCCACAGCGGAGGCCAAGGCTGCGACTTCACCAAAGGCCACGATGTCCCCGAGGCATCTC
TCAGAATCCTCTGGAAAACCCCTGAGCACAAAGCAAGAGGCATCGAAGCCCCCTCGGGGATGCC
CGCAAGCCAACAGGGGTGTCGTGCGGTGGGAGTACTTCCGCCTGCGTCCTCTGCGGTTCAGGGC
CCCAGACGAGCCCCAGCAGGCCCAAGTCCCCCATGTCTGGGGCTGGGAGGTGGCTGGGGCCCCT
GCACTGAGGCTGCAGAAGTCCCAGTCATCTGATCTGCTGGAAAGGGAGAGGGAGAGTGTCCTGC
GCCGGGAGCAAGAGGTGGCAGAGGAGCGGAGAAATGCTCTCTTCCCAGAGGTCTTCTCCCCAAC
GCCAGATGAGAACTCTGACCAGAACTCCAGGAGCTCCTCCCAGGCATCCGGCATCACGGGCAGT
TACTCGGTGTCTGAGTCTCCCTTCTTCAGCCCCATCCACCTACACTCAAACGTGGCGTGGACAG
TGGAAGATCCAGTGGACAGTGCTCCTCCCGGGCAGAGAAAGAAGGAGCAATGGTACGCTGGCAT
CAACCCCTCGGACGGTATCAACTCAGAGGTCCTGGAAGCCATACGGGTGACCCGTCACAAGAAC
GCCATGGCAGAGCGCTGGGAATCCCGCATCTACGCCAGTGAGGAGGATGACTGAGCCTCGGGAT
GGGGCGCCCACCCCCTGCCCTGCCCTGACCCTCGTGGGAACTGCCAAGACCATCGCCAAGCCCC
CACCCTAGGAAATGGGTCCTAGGTCCAGGATCCAAGAACCACAGCTCATCTGCCAACAATCCCA
CCATGGGCACATTTGGGACTGTTGGGTTTTTCGTTTCCGTTTCTATCTTCCTTTAGAAATGTTT
CTGCCTTTGGGGTCTAAAGCTTTTGGGGATGAAATGGGACCCCTGCTGATTCTTTCTGCTTCTA
AGACTTTGCCAAATGCCCTGGGTCTAAGAAAGAAAGAGACCCGCTCCTCCACTTTCAGGTGTAA
TTTGCTTCCGCTAGTCTGAGGGCAGAGGGACCGGTCAAAGAGGGTGGCACAGATCGCAGCACCT
TGAGGGGCTGCGGGTCTGAGGGAGGAGACACTCAGCTCCTCCCTCTGAGAAGTCCCAAGCTGAG
AGGGGAGACCTGCCCCTTTCCAACCCTGGGAAACCATCCAGTCTGAGGGAGGAGGCCAAACTCC
CAGTGCTGGGGGTCCCTGTGCAGCCCTCAAACCCTTCACCTTGGTGCACCCAGCCACACCTGGT
GGACACAAAGCTCTCACATCGATAGGATCCCATGAGGATGGTCCCCTTCACCTGGGAGAAAAGT
GACCCAGTTTAGGAGCTGGAGGGGGGTCTTTGTCCCCCACCCCCAAACTGCCCTGAAATAAACC
TGGAGTGAGCTGCC

hide sequence

RefSeq Acc Id:

XM_054319805 ⟹ XP_054175780

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	19	702,466 - 718,374 (+)	NCBI

RefSeq Acc Id:

XM_054319806 ⟹ XP_054175781

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	19	708,504 - 718,374 (+)	NCBI

Protein Sequences


Protein RefSeqs	NP_775752	(Get FASTA)	NCBI Sequence Viewer
	XP_011525987	(Get FASTA)	NCBI Sequence Viewer
	XP_011525988	(Get FASTA)	NCBI Sequence Viewer
	XP_054175780	(Get FASTA)	NCBI Sequence Viewer
	XP_054175781	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH42125	(Get FASTA)	NCBI Sequence Viewer
	AAH52236	(Get FASTA)	NCBI Sequence Viewer
	EAW61160	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000215582
	ENSP00000215582.4
GenBank Protein	Q8IVT2	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_775752 ⟸ NM_173481

- UniProtKB:

Q8IVT2 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MDRVTRYPILGIPQAHRGTGLVLDGDTSYTYHLVCMGPEASGWGQDEPQTWPTDHRAQQGVQRQ
GVSYSVHAYTGQPSPRGLHSENREDEGWQVYRLGARDAHQGRPTWALRPEDGEDKEMKTYRLDA
GDADPRRLCDLERERWAVIQGQAVRKSSTVATLQGTPDHGDPRTPGPPRSTPLEENVVDREQID
FLAARQQFLSLEQANKGAPHSSPARGTPAGTTPGASQAPKAFNKPHLANGHVVPIKPQVKGVVR
EENKVRAVPTWASVQVVDDPGSLASVESPGTPKETPIEREIRLAQEREADLREQRGLRQATDHQ
ELVEIPTRPLLTKLSLITAPRRERGRPSLYVQRDIVQETQREEDHRREGLHVGRASTPDWVSEG
PQPGLRRALSSDSILSPAPDARAADPAPEVRKVNRIPPDAYQPYLSPGTPQLEFSAFGAFGKPS
SLSTAEAKAATSPKATMSPRHLSESSGKPLSTKQEASKPPRGCPQANRGVVRWEYFRLRPLRFR
APDEPQQAQVPHVWGWEVAGAPALRLQKSQSSDLLERERESVLRREQEVAEERRNALFPEVFSP
TPDENSDQNSRSSSQASGITGSYSVSESPFFSPIHLHSNVAWTVEDPVDSAPPGQRKKEQWYAG
INPSDGINSEVLEAIRVTRHKNAMAERWESRIYASEEDD

hide sequence

RefSeq Acc Id:	XP_011525987 ⟸ XM_011527685
- Peptide Label:	isoform X1
- UniProtKB:	Q8IVT2 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MDRVTRYPILGIPQAHRGTGLVLDGDTSYTYHLVCMGPEASGWGQDEPQTWPTDHRAQQGVQRQ GVSYSVHAYTGQPSPRGLHSENREDEGWQVYRLGARDAHQGRPTWALRPEDGEDKEMKTYRLDA GDADPRRLCDLERERWAVIQGQAVRKSSTVATLQGTPDHGDPRTPGPPRSTPLEENVVDREQID FLAARQQFLSLEQANKGAPHSSPARGTPAGTTPGASQAPKAFNKPHLANGHVVPIKPQVKGVVR EENKVRAVPTWASVQVVDDPGSLASVESPGTPKETPIEREIRLAQEREADLREQRGLRQATDHQ ELVEIPTRPLLTKLSLITAPRRERGRPSLYVQRDIVQETQREEDHRREGLHVGRASTPDWVSEG PQPGLRRALSSDSILSPAPDARAADPAPEVRKVNRIPPDAYQPYLSPGTPQLEFSAFGAFGKPS SLSTAEAKAATSPKATMSPRHLSESSGKPLSTKQEASKPPRGCPQANRGVVRWEYFRLRPLRFR APDEPQQAQVPHVWGWEVAGAPALRLQKSQSSDLLERERESVLRREQEVAEERRNALFPEVFSP TPDENSDQNSRSSSQASGITGSYSVSESPFFSPIHLHSNVAWTVEDPVDSAPPGQRKKEQWYAG INPSDGINSEVLEAIRVTRHKNAMAERWESRIYASEEDD hide sequence

RefSeq Acc Id:	XP_011525988 ⟸ XM_011527686
- Peptide Label:	isoform X1
- UniProtKB:	Q8IVT2 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MDRVTRYPILGIPQAHRGTGLVLDGDTSYTYHLVCMGPEASGWGQDEPQTWPTDHRAQQGVQRQ GVSYSVHAYTGQPSPRGLHSENREDEGWQVYRLGARDAHQGRPTWALRPEDGEDKEMKTYRLDA GDADPRRLCDLERERWAVIQGQAVRKSSTVATLQGTPDHGDPRTPGPPRSTPLEENVVDREQID FLAARQQFLSLEQANKGAPHSSPARGTPAGTTPGASQAPKAFNKPHLANGHVVPIKPQVKGVVR EENKVRAVPTWASVQVVDDPGSLASVESPGTPKETPIEREIRLAQEREADLREQRGLRQATDHQ ELVEIPTRPLLTKLSLITAPRRERGRPSLYVQRDIVQETQREEDHRREGLHVGRASTPDWVSEG PQPGLRRALSSDSILSPAPDARAADPAPEVRKVNRIPPDAYQPYLSPGTPQLEFSAFGAFGKPS SLSTAEAKAATSPKATMSPRHLSESSGKPLSTKQEASKPPRGCPQANRGVVRWEYFRLRPLRFR APDEPQQAQVPHVWGWEVAGAPALRLQKSQSSDLLERERESVLRREQEVAEERRNALFPEVFSP TPDENSDQNSRSSSQASGITGSYSVSESPFFSPIHLHSNVAWTVEDPVDSAPPGQRKKEQWYAG INPSDGINSEVLEAIRVTRHKNAMAERWESRIYASEEDD hide sequence

RefSeq Acc Id:

ENSP00000215582 ⟸ ENST00000215582

RefSeq Acc Id:	XP_054175780 ⟸ XM_054319805
- Peptide Label:	isoform X1
- UniProtKB:	Q8IVT2 (UniProtKB/Swiss-Prot)

RefSeq Acc Id:	XP_054175781 ⟸ XM_054319806
- Peptide Label:	isoform X1
- UniProtKB:	Q8IVT2 (UniProtKB/Swiss-Prot)

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q8IVT2-F1-model_v2	AlphaFold	Q8IVT2	1-679	view protein structure

Promoters

RGD ID:

6795198

Promoter ID:

HG_KWN:28335

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

HeLa_S3

Transcripts:

ENST00000215582

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	19	701,991 - 702,491 (+)	MPROMDB

RGD ID:

7237723

Promoter ID:

EPDNEW_H24607

Type:

multiple initiation site

Name:

MISP_2

Description:

mitotic spindle positioning

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H24608 EPDNEW_H24609

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	748,438 - 748,498	EPDNEW

RGD ID:

7237725

Promoter ID:

EPDNEW_H24608

Type:

initiation region

Name:

MISP_3

Description:

mitotic spindle positioning

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H24607 EPDNEW_H24609

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	750,856 - 750,916	EPDNEW

RGD ID:

7237727

Promoter ID:

EPDNEW_H24609

Type:

initiation region

Name:

MISP_1

Description:

mitotic spindle positioning

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H24607 EPDNEW_H24608

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	751,133 - 751,193	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:27000	AgrOrtholog
COSMIC	MISP	COSMIC
Ensembl Genes	ENSG00000099812	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000215582	ENTREZGENE
	ENST00000215582.8	UniProtKB/Swiss-Prot
GTEx	ENSG00000099812	GTEx
HGNC ID	HGNC:27000	ENTREZGENE
Human Proteome Map	MISP	Human Proteome Map
InterPro	AKAP2_C	UniProtKB/Swiss-Prot
	MISP/MISP3	UniProtKB/Swiss-Prot
KEGG Report	hsa:126353	UniProtKB/Swiss-Prot
NCBI Gene	126353	ENTREZGENE
OMIM	615289	OMIM
PANTHER	MITOTIC INTERACTOR AND SUBSTRATE OF PLK1	UniProtKB/Swiss-Prot
	PTHR18839	UniProtKB/Swiss-Prot
Pfam	AKAP2_C	UniProtKB/Swiss-Prot
PharmGKB	PA134861073	PharmGKB
UniProt	MISP_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2013-07-02	MISP	mitotic spindle positioning	C19orf21	chromosome 19 open reading frame 21	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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Imported Disease Annotations - ClinVar