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Gene: FIGNL2 (fidgetin like 2) Homo sapiens

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Symbol:

FIGNL2

Name:

fidgetin like 2

RGD ID:

1603328

HGNC Page

HGNC:13287

Description:

Predicted to enable ATP hydrolysis activity and microtubule severing ATPase activity. Involved in microtubule severing and negative regulation of cell migration. Located in cell leading edge.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

fidgetin-like 2; fidgetin-like protein 2; putative fidgetin-like protein 2; similar to fidgetin

RGD Orthologs

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Fignl2 (fidgetin-like 2)	HGNC	HomoloGene, Inparanoid, NCBI, Panther
Rattus norvegicus (Norway rat):	Fignl2 (fidgetin-like 2)	HGNC	HomoloGene, NCBI
Chinchilla lanigera (long-tailed chinchilla):	Fignl2 (fidgetin like 2)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	FIGNL2 (fidgetin like 2)	NCBI	Ortholog
Canis lupus familiaris (dog):	FIGNL2 (fidgetin like 2)	HGNC	NCBI
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Fignl2 (fidgetin like 2)	NCBI	Ortholog
Sus scrofa (pig):	FIGNL2 (fidgetin like 2)	HGNC	Ensembl, NCBI, OrthoDB
Chlorocebus sabaeus (green monkey):	FIGNL2 (fidgetin like 2)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Fignl2 (fidgetin like 2)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Fignl2 (fidgetin-like 2)	Alliance	DIOPT (HGNC)
Mus musculus (house mouse):	Fignl2 (fidgetin-like 2)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	si:dkey-157g16.6	Alliance	DIOPT (Ensembl Compara\|InParanoid\|OMA\|OrthoFinder\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Drosophila melanogaster (fruit fly):	Fign	Alliance	DIOPT (Ensembl Compara\|PANTHER\|PhylomeDB)
Caenorhabditis elegans (roundworm):	figl-1	Alliance	DIOPT (Ensembl Compara\|PANTHER\|PhylomeDB)
Xenopus tropicalis (tropical clawed frog):	fignl2	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|OMA\|OrthoFinder\|PANTHER\|PhylomeDB)
Xenopus laevis (African clawed frog):	fignl2.S	Alliance	DIOPT (Xenbase)

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	12	51,817,899 - 51,848,718 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	12	51,817,899 - 51,848,718 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	12	52,211,683 - 52,242,502 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	12	50,497,943 - 50,502,475 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	12	51,013,783 - 51,018,315 (-)	NCBI		Celera
Cytogenetic Map	12	q13.13	NCBI
HuRef	12	49,244,544 - 49,258,562 (-)	NCBI		HuRef
CHM1_1	12	52,178,134 - 52,192,159 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	12	51,781,425 - 51,812,316 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
FIGNL2	Human	Cognitive Impairment with or Without Cerebellar Ataxia		IAGP	RGD:405004020	8554872	ClinVar Annotator: match by term: Cognitive impairment with or without cerebellar ataxia	ClinVar	PMID:25741868

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
FIGNL2	Human	(1->4)-beta-D-glucan	multiple interactions	ISO	RGD:1623348	6480464	[perfluorooctane sulfonic acid co-treated with Cellulose] results in decreased expression of FIGNL2 mRNA	CTD	PMID:36331819
FIGNL2	Human	17beta-estradiol	multiple interactions	EXP		6480464	Estradiol promotes the reaction [ESR2 protein affects the expression of FIGNL2 mRNA]	CTD	PMID:20404318
FIGNL2	Human	17beta-estradiol	increases expression	ISO	RGD:1623348	6480464	Estradiol results in increased expression of FIGNL2 mRNA	CTD	PMID:39298647
FIGNL2	Human	2,3,7,8-tetrachlorodibenzodioxine	decreases expression	ISO	RGD:1623348	6480464	Tetrachlorodibenzodioxin results in decreased expression of FIGNL2 mRNA	CTD	PMID:31961203
FIGNL2	Human	4,4'-sulfonyldiphenol	affects methylation	ISO	RGD:1623348	6480464	bisphenol S affects the methylation of FIGNL2 exon; bisphenol S affects the methylation of FIGNL2 more ...	CTD	PMID:31683443\|PMID:33297965
FIGNL2	Human	6-propyl-2-thiouracil	decreases expression	ISO	RGD:1566321	6480464	Propylthiouracil results in decreased expression of FIGNL2 mRNA	CTD	PMID:24780913
FIGNL2	Human	atrazine	increases expression	EXP		6480464	Atrazine results in increased expression of FIGNL2 mRNA	CTD	PMID:22378314
FIGNL2	Human	benzo[a]pyrene	increases methylation	EXP		6480464	Benzo(a)pyrene results in increased methylation of FIGNL2 exon; Benzo(a)pyrene results in increased methylation of FIGNL2 more ...	CTD	PMID:27901495
FIGNL2	Human	bisphenol A	multiple interactions	EXP		6480464	[bisphenol A co-treated with Fulvestrant] results in increased methylation of FIGNL2 gene	CTD	PMID:31601247
FIGNL2	Human	butanal	decreases expression	EXP		6480464	butyraldehyde results in decreased expression of FIGNL2 mRNA	CTD	PMID:26079696
FIGNL2	Human	fulvestrant	multiple interactions	EXP		6480464	[bisphenol A co-treated with Fulvestrant] results in increased methylation of FIGNL2 gene	CTD	PMID:31601247
FIGNL2	Human	fulvestrant	increases methylation	EXP		6480464	Fulvestrant results in increased methylation of FIGNL2 gene	CTD	PMID:31601247
FIGNL2	Human	inulin	multiple interactions	ISO	RGD:1623348	6480464	[perfluorooctane sulfonic acid co-treated with Inulin] results in decreased expression of FIGNL2 mRNA	CTD	PMID:36331819
FIGNL2	Human	lead(0)	affects expression	EXP		6480464	Lead affects the expression of FIGNL2 mRNA	CTD	PMID:28903495
FIGNL2	Human	methoxychlor	affects methylation	ISO	RGD:1566321	6480464	Methoxychlor affects the methylation of FIGNL2 gene	CTD	PMID:35440735
FIGNL2	Human	miconazole	decreases expression	ISO	RGD:1623348	6480464	Miconazole results in decreased expression of FIGNL2 mRNA	CTD	PMID:27462272
FIGNL2	Human	Monobutylphthalate	increases expression	ISO	RGD:1566321	6480464	monobutyl phthalate results in increased expression of FIGNL2 mRNA	CTD	PMID:29162477
FIGNL2	Human	okadaic acid	increases expression	EXP		6480464	Okadaic Acid results in increased expression of FIGNL2 mRNA	CTD	PMID:38832940
FIGNL2	Human	perfluorohexanesulfonic acid	decreases expression	ISO	RGD:1623348	6480464	perfluorohexanesulfonic acid results in decreased expression of FIGNL2 mRNA	CTD	PMID:37995155
FIGNL2	Human	perfluorooctane-1-sulfonic acid	multiple interactions	ISO	RGD:1623348	6480464	[perfluorooctane sulfonic acid co-treated with Cellulose] results in decreased expression of FIGNL2 mRNA; [perfluorooctane sulfonic more ...	CTD	PMID:36331819
FIGNL2	Human	S-nitrosoglutathione	increases expression	EXP		6480464	S-Nitrosoglutathione results in increased expression of FIGNL2 mRNA	CTD	PMID:38825487
FIGNL2	Human	silver atom	increases expression	EXP		6480464	Silver results in increased expression of FIGNL2 mRNA	CTD	PMID:28959546
FIGNL2	Human	silver atom	increases expression	ISO	RGD:1623348	6480464	Silver results in increased expression of FIGNL2 mRNA	CTD	PMID:27131904
FIGNL2	Human	silver(0)	increases expression	EXP		6480464	Silver results in increased expression of FIGNL2 mRNA	CTD	PMID:28959546
FIGNL2	Human	silver(0)	increases expression	ISO	RGD:1623348	6480464	Silver results in increased expression of FIGNL2 mRNA	CTD	PMID:27131904
FIGNL2	Human	tetrachloromethane	decreases expression	ISO	RGD:1566321	6480464	Carbon Tetrachloride results in decreased expression of FIGNL2 mRNA	CTD	PMID:31150632
FIGNL2	Human	thioacetamide	decreases expression	ISO	RGD:1566321	6480464	Thioacetamide results in decreased expression of FIGNL2 mRNA	CTD	PMID:34492290
FIGNL2	Human	trovafloxacin	increases expression	ISO	RGD:1623348	6480464	trovafloxacin results in increased expression of FIGNL2 mRNA	CTD	PMID:35537566
FIGNL2	Human	urethane	decreases expression	EXP		6480464	Urethane results in decreased expression of FIGNL2 mRNA	CTD	PMID:28818685
FIGNL2	Human	valproic acid	increases methylation	EXP		6480464	Valproic Acid results in increased methylation of FIGNL2 gene	CTD	PMID:29154799

Biological Process

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
FIGNL2	Human	microtubule severing	involved_in	IMP		150520179	PMID:25756798, PMID:36523161	UniProt	PMID:25756798\|PMID:36523161
FIGNL2	Human	microtubule severing	involved_in	IEA	UniProtKB:J3QK54\|ensembl:ENSMUSP00000150618	150520179		Ensembl	GO_REF:0000107
FIGNL2	Human	morphogenesis of a branching structure	involved_in	ISS	UniProtKB:E9QEA3	150520179		UniProt	GO_REF:0000024
FIGNL2	Human	negative regulation of axon regeneration	involved_in	ISS	UniProtKB:J3QK54	150520179		UniProt	GO_REF:0000024
FIGNL2	Human	negative regulation of axon regeneration	involved_in	IEA	UniProtKB:A0A8I6AGW3\|UniProtKB:J3QK54\|ensembl:ENSMUSP00000150618\|ensembl:ENSRNOP00000092082	150520179		Ensembl	GO_REF:0000107
FIGNL2	Human	negative regulation of cell migration	involved_in	IMP		150520179	PMID:25756798, PMID:36523161	UniProt	PMID:25756798\|PMID:36523161
FIGNL2	Human	negative regulation of cell migration	involved_in	IEA	UniProtKB:J3QK54\|ensembl:ENSMUSP00000150618	150520179		Ensembl	GO_REF:0000107
FIGNL2	Human	negative regulation of wound healing, spreading of epidermal cells	involved_in	IEA	UniProtKB:J3QK54\|ensembl:ENSMUSP00000150618	150520179		Ensembl	GO_REF:0000107
FIGNL2	Human	negative regulation of wound healing, spreading of epidermal cells	involved_in	ISS	UniProtKB:J3QK54	150520179		UniProt	GO_REF:0000024

Cellular Component

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
FIGNL2	Human	cell cortex	located_in	IEA	UniProtKB-SubCell:SL-0138	150520179		UniProt	GO_REF:0000044
FIGNL2	Human	cell leading edge	located_in	IDA		150520179	PMID:25756798	UniProt	PMID:25756798
FIGNL2	Human	cytoplasm	located_in	IEA	UniProtKB-KW:KW-0963	150520179		UniProt	GO_REF:0000043

Molecular Function

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
FIGNL2	Human	ATP binding	enables	IEA	UniProtKB-KW:KW-0067	150520179		UniProt	GO_REF:0000043
FIGNL2	Human	ATP binding	enables	IEA	InterPro:IPR003959	150520179		InterPro	GO_REF:0000002
FIGNL2	Human	ATP hydrolysis activity	enables	IBA	MGI:1344353\|PANTHER:PTN000553508\|SGD:S000006377\|UniProtKB:O75351\|UniProtKB:Q9UN37\|WB:WBGene00016045\|WB:WBGene00017981	150520179		GO_Central	GO_REF:0000033
FIGNL2	Human	ATP hydrolysis activity	enables	IEA	InterPro:IPR003593\|InterPro:IPR003959	150520179		InterPro	GO_REF:0000002
FIGNL2	Human	hydrolase activity	enables	IEA	UniProtKB-KW:KW-0378	150520179		UniProt	GO_REF:0000043
FIGNL2	Human	microtubule severing ATPase activity	enables	IBA	FB:FBgn0031519\|PANTHER:PTN001129817	150520179		GO_Central	GO_REF:0000033
FIGNL2	Human	nucleotide binding	enables	IEA	UniProtKB-KW:KW-0547	150520179		UniProt	GO_REF:0000043

#	Reference Title	Reference Citation
1.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

PMID:8889548	PMID:11017077	PMID:16541075	PMID:21873635	PMID:25756798	PMID:31343991	PMID:33961781	PMID:36523161

FIGNL2
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	12	51,817,899 - 51,848,718 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	12	51,817,899 - 51,848,718 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	12	52,211,683 - 52,242,502 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	12	50,497,943 - 50,502,475 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	12	51,013,783 - 51,018,315 (-)	NCBI		Celera
Cytogenetic Map	12	q13.13	NCBI
HuRef	12	49,244,544 - 49,258,562 (-)	NCBI		HuRef
CHM1_1	12	52,178,134 - 52,192,159 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	12	51,781,425 - 51,812,316 (-)	NCBI		T2T-CHM13v2.0

Fignl2
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	15	100,948,075 - 100,976,465 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	15	100,948,075 - 100,976,448 (-)	Ensembl		GRCm39 Ensembl
GRCm38	15	101,050,192 - 101,078,584 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	15	101,050,194 - 101,078,567 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	15	100,882,896 - 100,884,830 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	15	100,879,984 - 100,882,439 (-)	NCBI		MGSCv36	mm8
Celera	15	103,199,310 - 103,201,244 (-)	NCBI		Celera
Cytogenetic Map	15	F1	NCBI
cM Map	15	56.39	NCBI

Fignl2
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	7	134,038,734 - 134,066,626 (-)	NCBI		GRCr8
mRatBN7.2	7	132,160,006 - 132,187,896 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	7	132,162,390 - 132,164,336 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	7	133,961,636 - 133,989,506 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	7	136,191,152 - 136,219,022 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	7	136,101,893 - 136,129,789 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	15	5,127,315 - 5,133,550 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	7	142,694,759 - 142,696,347 (-)	NCBI	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	7	140,494,661 - 140,501,240 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	7	139,805,382 - 139,807,381 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	7	128,628,426 - 128,651,176 (-)	NCBI		Celera
Cytogenetic Map	7	q36	NCBI

Fignl2
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0	NW_004955547	2,205,614 - 2,234,417 (-)	NCBI	ChiLan1.0	ChiLan1.0

FIGNL2
(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	10	42,346,719 - 42,377,486 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	12	42,343,492 - 42,374,250 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	12	36,914,415 - 36,945,018 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	12	37,698,429 - 37,718,699 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	12	37,716,039 - 37,718,001 (+)	Ensembl	panpan1.1		panPan2

FIGNL2
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	27	3,138,800 - 3,168,264 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
Dog10K_Boxer_Tasha	27	43,091,187 - 43,117,719 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	27	3,135,508 - 3,162,038 (+)	NCBI		ROS_Cfam_1.0
UMICH_Zoey_3.1	27	3,152,136 - 3,178,852 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	27	3,138,359 - 3,164,826 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	27	43,489,583 - 43,516,095 (-)	NCBI		UU_Cfam_GSD_1.0

Fignl2
(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_024404945	63,870,170 - 63,877,428 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936512	9,289,926 - 9,291,931 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936512	9,287,391 - 9,293,741 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

FIGNL2
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	5	17,180,773 - 17,182,743 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	5	17,178,239 - 17,209,297 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	5	17,773,665 - 17,787,384 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

FIGNL2
(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	11	48,010,951 - 48,021,889 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
Vero_WHO_p1.0	NW_023666037	198,070,808 - 198,101,348 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Fignl2
(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_004624816	487,821 - 489,773 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624816	464,601 - 493,218 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in FIGNL2
13 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	copy number gain	See cases [RCV000139555]	Chr12:121271..133196807 [GRCh38] Chr12:282465..133773393 [GRCh37] Chr12:100698..132283466 [NCBI36] Chr12:12p13.33-q24.33	pathogenic
GRCh38/hg38 12q13.12-13.13(chr12:50633888-52851909)x1	copy number loss	See cases [RCV000140716]	Chr12:50633888..52851909 [GRCh38] Chr12:51027671..53245693 [GRCh37] Chr12:49313938..51531960 [NCBI36] Chr12:12q13.12-13.13	pathogenic
GRCh38/hg38 12q13.12-13.13(chr12:50122359-53248460)x1	copy number loss	See cases [RCV000142033]	Chr12:50122359..53248460 [GRCh38] Chr12:50516142..53642244 [GRCh37] Chr12:48802409..51928511 [NCBI36] Chr12:12q13.12-13.13	pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	copy number gain	See cases [RCV000258805]	Chr12:1..133851895 [GRCh37] Chr12:12p13.33-q24.33	pathogenic\|likely pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	copy number gain	See cases [RCV000510482]	Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	copy number gain	See cases [RCV000511643]	Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
GRCh37/hg19 12q13.13(chr12:52124685-52227943)x3	copy number gain	See cases [RCV000512254]	Chr12:52124685..52227943 [GRCh37] Chr12:12q13.13	uncertain significance
NC_000012.11:g.26370251_54361538inv	inversion	not specified [RCV000714265]	Chr12:26370251..54361538 [GRCh37] Chr12:12p12.1-q13.13	uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3	copy number gain	not provided [RCV000750253]	Chr12:621220..133779118 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3	copy number gain	not provided [RCV000750246]	Chr12:191619..133777645 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
GRCh37/hg19 12q13.13(chr12:52193883-52215816)x1	copy number loss	not provided [RCV000737885]	Chr12:52193883..52215816 [GRCh37] Chr12:12q13.13	benign
GRCh37/hg19 12q13.13(chr12:52193883-52226477)x1	copy number loss	not provided [RCV000737886]	Chr12:52193883..52226477 [GRCh37] Chr12:12q13.13	benign
GRCh37/hg19 12q13.13(chr12:52200742-52227498)x1	copy number loss	not provided [RCV000737887]	Chr12:52200742..52227498 [GRCh37] Chr12:12q13.13	benign
GRCh37/hg19 12q13.13(chr12:52204246-52215706)x1	copy number loss	not provided [RCV000737888]	Chr12:52204246..52215706 [GRCh37] Chr12:12q13.13	benign
GRCh37/hg19 12q13.13(chr12:52204246-52215816)x1	copy number loss	not provided [RCV000737889]	Chr12:52204246..52215816 [GRCh37] Chr12:12q13.13	benign
GRCh37/hg19 12q13.13(chr12:52204246-52219142)x1	copy number loss	not provided [RCV000750406]	Chr12:52204246..52219142 [GRCh37] Chr12:12q13.13	benign
GRCh37/hg19 12q13.13(chr12:52204246-52219882)x1	copy number loss	not provided [RCV000750407]	Chr12:52204246..52219882 [GRCh37] Chr12:12q13.13	benign
GRCh37/hg19 12q13.13(chr12:52207851-52219142)x1	copy number loss	not provided [RCV000750408]	Chr12:52207851..52219142 [GRCh37] Chr12:12q13.13	benign
GRCh37/hg19 12q13.13(chr12:52207934-52215816)x3	copy number gain	not provided [RCV000750409]	Chr12:52207934..52215816 [GRCh37] Chr12:12q13.13	benign
GRCh37/hg19 12q13.13(chr12:52214349-52215816)x1	copy number loss	not provided [RCV000750410]	Chr12:52214349..52215816 [GRCh37] Chr12:12q13.13	benign
GRCh37/hg19 12q13.13(chr12:51880647-52370250)x3	copy number gain	not provided [RCV000762723]	Chr12:51880647..52370250 [GRCh37] Chr12:12q13.13	uncertain significance
NM_001384995.1(FIGNL2):c.1343A>G (p.Gln448Arg)	single nucleotide variant	not specified [RCV004202671]	Chr12:51821071 [GRCh38] Chr12:52214855 [GRCh37] Chr12:12q13.13	uncertain significance
NM_001384995.1(FIGNL2):c.1255C>A (p.Pro419Thr)	single nucleotide variant	not specified [RCV004199563]	Chr12:51821159 [GRCh38] Chr12:52214943 [GRCh37] Chr12:12q13.13	uncertain significance
NM_001384995.1(FIGNL2):c.1727G>T (p.Cys576Phe)	single nucleotide variant	not specified [RCV004079715]	Chr12:51820687 [GRCh38] Chr12:52214471 [GRCh37] Chr12:12q13.13	uncertain significance
NM_001384995.1(FIGNL2):c.1184C>T (p.Ala395Val)	single nucleotide variant	not specified [RCV004210948]	Chr12:51821230 [GRCh38] Chr12:52215014 [GRCh37] Chr12:12q13.13	uncertain significance
NM_001384995.1(FIGNL2):c.314C>G (p.Pro105Arg)	single nucleotide variant	not specified [RCV004110889]	Chr12:51822100 [GRCh38] Chr12:52215884 [GRCh37] Chr12:12q13.13	uncertain significance
NM_001384995.1(FIGNL2):c.1457C>T (p.Ser486Phe)	single nucleotide variant	not specified [RCV004073636]	Chr12:51820957 [GRCh38] Chr12:52214741 [GRCh37] Chr12:12q13.13	uncertain significance
NM_001384995.1(FIGNL2):c.1143G>T (p.Lys381Asn)	single nucleotide variant	not specified [RCV004115033]	Chr12:51821271 [GRCh38] Chr12:52215055 [GRCh37] Chr12:12q13.13	uncertain significance
NM_001384995.1(FIGNL2):c.695C>T (p.Thr232Ile)	single nucleotide variant	not specified [RCV004105986]	Chr12:51821719 [GRCh38] Chr12:52215503 [GRCh37] Chr12:12q13.13	uncertain significance
NM_001384995.1(FIGNL2):c.469G>C (p.Glu157Gln)	single nucleotide variant	not specified [RCV004071379]	Chr12:51821945 [GRCh38] Chr12:52215729 [GRCh37] Chr12:12q13.13	uncertain significance
NM_001384995.1(FIGNL2):c.1404G>C (p.Glu468Asp)	single nucleotide variant	not specified [RCV004104817]	Chr12:51821010 [GRCh38] Chr12:52214794 [GRCh37] Chr12:12q13.13	uncertain significance
NM_001384995.1(FIGNL2):c.697C>A (p.Pro233Thr)	single nucleotide variant	not specified [RCV004185791]	Chr12:51821717 [GRCh38] Chr12:52215501 [GRCh37] Chr12:12q13.13	uncertain significance
NM_001384995.1(FIGNL2):c.1108G>T (p.Val370Leu)	single nucleotide variant	not specified [RCV004104816]	Chr12:51821306 [GRCh38] Chr12:52215090 [GRCh37] Chr12:12q13.13	uncertain significance
NC_000012.11:g.52199766_52388207del	deletion	Cognitive impairment with or without cerebellar ataxia [RCV003883317]	Chr12:52199766..52388207 [GRCh37] Chr12:12q13.13	likely pathogenic
GRCh37/hg19 12q13.13(chr12:52027425-52317075)x1	copy number loss	not provided [RCV004819375]	Chr12:52027425..52317075 [GRCh37] Chr12:12q13.13	pathogenic

Predicted Target Of

	Summary Value
Count of predictions:	432
Count of miRNA genes:	388
Interacting mature miRNAs:	430
Transcripts:	ENST00000564840
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.

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
597225137	GWAS1321211_H	energy intake measurement QTL GWAS1321211 (human)		3e-08	energy intake measurement	calorie intake measurement (CMO:0002248)	12	51838692	51838693	Human
597255956	GWAS1352030_H	response to beta blocker QTL GWAS1352030 (human)		0.0000008	response to beta blocker		12	51831842	51831843	Human

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

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	renal system	reproductive system	respiratory system	sensory system
1204	2318	2694	2192	4862	1670	2237	4	588	1300	428	2221	6338	5754	39	3685	787	1682	1542	168


RefSeq Transcripts	NM_001013690	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001384995	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001384996	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017019298	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017019299	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054372047	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054372048	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC068987	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK129980	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM676965	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068266	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000564840 ⟹ ENSP00000491756

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	51,817,893 - 51,831,917 (-)	Ensembl

Ensembl Acc Id:

ENST00000618634 ⟹ ENSP00000491257

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	51,817,899 - 51,848,718 (-)	Ensembl

RefSeq Acc Id:

NM_001013690 ⟹ NP_001013712

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	51,817,899 - 51,831,917 (-)	NCBI
GRCh37	12	52,211,676 - 52,242,364 (-)	NCBI
Build 36	12	50,497,943 - 50,502,475 (-)	NCBI Archive
Celera	12	51,013,783 - 51,018,315 (-)	RGD
HuRef	12	49,244,544 - 49,258,562 (-)	ENTREZGENE
CHM1_1	12	52,178,134 - 52,192,159 (-)	NCBI
T2T-CHM13v2.0	12	51,781,425 - 51,795,438 (-)	NCBI

Sequence:

show sequence

AGTGAGCTATGGGGACACTACTGCACTGTAGCCTGGGCAACAGAGCAAGACCTTGTCTCAAAAATGTATATATATTTTGGGCTTTTTTTCCTAAAACGGGAACTACAACAGCATATTTGCGAGCTGAT
GAGAGTGACCCAGCAGAGAGGGAAATGGATCAGCTCTGTTGAAGATGCACTGGACACCAGAACACGCCCAGCCCCTCAACCAGTGGCCAGAGCAGCACCTGGACGTCTCCTCCACCACCCCGTCGCCG
GCCCACAAGTTGGAGTTGCCCCCTGGGGGTCGCCAACGCTGCCACTACGCTTGGGCACACGACGACATCTCAGCCCTCACTGCCTCCAACCTCCTAAAGCGCTATGCAGAGAAGTACTCTGGGGTCTT
GGATTCTCCCTACGAGCGTCCGGCCCTGGGCGGGTACAGCGACGCCTCCTTCCTCAACGGCGCCAAAGGGGATCCCGAGCCCTGGCCAGGGCCGGAGCCACCCTACCCCTTGGCCTCACTCCACGAAG
GCCTCCCAGGAACCAAATCGGGCGGTGGCGGCGGTTCCGGGGCCCTGGGGGGCTCCCCAGTTTTAGCCGGGAACCTCCCTGAACCCCTCTACGCCGGCAATGCGTGCGGGGGCCCATCGGCGGCGCCC
GAGTACGCGGCCGGCTACGGCGGGGGGTACCTGGCGCCGGGTTACTGCGCGCAGACGGGCGCCGCGCTGCCCCCGCCGCCCCCGGCCGCGCTCCTGCAGCCCCCACCGCCTCCGGGGTACGGGCCCTC
AGCGCCGCTGTACAACTATCCCGCAGGGGGCTACGCAGCGCAGCCCGGCTATGGCGCGCTCCCGCCGCCCCCAGGCCCACCCCCGGCCCCCTACCTGACCCCGGGCCTGCCCGCGCCCACGCCCCTGC
CCGCGCCGGCACCGCCCACCGCCTATGGCTTCCCCACGGCCGCGCCGGGTGCCGAATCCGGGCTGTCGCTGAAGCGCAAGGCCGCCGACGAGGGGCCCGAGGGCCGCTACCGCAAGTACGCGTACGAG
CCCGCCAAGGCCCCCGTGGCTGACGGAGCCTCCTACCCCGCCGCGGACAACGGCGAATGTCGGGGCAACGGGTTCCGGGCCAAGCCGCCAGGAGCCGCGGAGGAGGCGTCGGGCAAGTACGGTGGCGG
CGTCCCCCTCAAGGTCCTGGGCTCCCCCGTCTACGGCCCGCAACTGGAGCCCTTTGAAAAGTTCCCGGAGCGGGCCCCGGCTCCTCGTGGGGGGTTCGCCGTGCCGTCGGGGGAGACTCCCAAAGGCG
TGGACCCTGGGGCCCTGGAGCTGGTGACGAGCAAGATGGTGGACTGCGGGCCCCCGGTGCAGTGGGCGGATGTGGCGGGCCAGGGCGCGCTCAAGGCGGCGCTGGAGGAGGAGCTGGTGTGGCCCCTG
CTCAGGCCGCCCGCCTACCCGGGCAGCCTGCGCCCGCCGCGGACCGTCCTGCTCTTTGGGCCGCGGGGCGCGGGCAAAGCGCTGCTGGGCCGCTGCCTCGCCACGCAGCTGGGCGCCACGCTGTTGCG
CCTGCGCGGCGCGACCCTGGCTGCGCCCGGCGCCGCCGAGGGCGCGCGCCTCCTCCAGGCCGCCTTCGCGGCCGCGCGCTGCCGCCCACCCTCCGTACTCCTCATCAGCGAGCTAGAGGCGCTGCTCC
CCGCCCGGGACGACGGCGCGGCGGCAGGGGGCGCGCTGCAGGTGCCGCTCCTGGCCTGCCTGGACGGGGGCTGCGGCGCGGGGGCTGACGGCGTGCTGGTTGTGGGCACCACCTCGCGGCCCGCGGCT
CTGGACGAGGCGACCCGCCGGCGCTTCTCTCTCCGCTTCTACGTGGCGCTGCCCGACAGCCCGGCCCGCGGGCAGATCCTGCAGCGGGCGCTGGCCCAGCAGGGCTGCGCGCTCAGTGAGCGGGAACT
GGCGGCGCTGGTGCAGGGCACGCAGGGCTTCTCTGGGGGCGAGCTGGGGCAGCTGTGCCAGCAGGCGGCGGCCGGGGCGGGCCTCCCGGGGCTGCAGCGCCCCCTCTCCTACAAGGACCTGGAGGCGG
CGCTGGCCAAGGTGGGCCCTAGGGCCTCTGCCAAGGAACTGGACTCGTTCGTGGAGTGGGACAAAATGTACGGCTCCGGACACTGACGGCGCGCGGGGGAGGCCGCGGGAGCCGCAGTCCCTCCGTCC
CCGCCGCCTCCGCGTGGGAGGGATGTCACTGACTAAACCCGGCTGGCAGGGGCTGGAGTGGTGAATGTGGGATCGGGGACAGGAGGGGTCTGCCGGTGGATATTTTTTTTTTCGTGGGAAGGAAAATG
CTTCTGCCAGGCAGATGCCATATGCGCCGTGTACTCAGGTTTTTCCTATTTATTGTGGACTGGAAGCTCGCCATCTCCGCCCGGCAGACCGGGCAGATCCGGCATGGGCTGGCACCCGGGGCCTTAAG
AACTCCTGCTCTCTTGCCACAACGCTTTTGTCTCCTCGCTATCTGAATGGCACCCTCCTTCTCCCTCACTCTCTCCATCCCATTCTCTGCATTCTCTTGGTTTTCTCTCCCTTTTGCTTTGTCGCTGA
CACCCCTGCCCACCCCATGCTGGCCCTGTTTCTCTCCTGCCCCTCCCTCCCCAGCTCTCCATCCCTCACCCTCTGTGCTTCTGTCTCCATCCCTGGCTCTCCAGCGTCCCTGGCCTTTTGGTCCCTGA
GCTTTAATGCCTTTCCCTGCCTTCTGTTCTTATTTGGACTGCAGTGGCCCTTTGCAGGAGCTCTGGAGGCCCAGGGGCTGAGGAGGAGGGTTACCCCTCTACCCATCTGAAACCTAGGGTCTAGGGGG
ATCAAGGAAAAAAAGTCCCCAAAGAAGGGGAATTTTTTGTTTGTTTTTGAGGGGAGATCCCAGAAATGTAGCTTGTTTCATATTTTAGTCTTCTTATTTTTGTAAAATGTGTAGAATTTGCTGTTTTT
CTTTTTCTTTTGACAACTCAGGAAGAAACTGACCTCAGAAAGAATGTTAGACTTTGGCTGCTCTCCTGTGTGCCCCTCACACCTGCCCCCTCCCCCCCACTCCATCCAGGGGACCAAATTCTCCCAGA
CACTCAAAAAATGAGACTTACGGGGAAGGGGAGAGGAAGACCCAGAGGCCTCAGTGAAACCCCAGCTATTCCTGGTCAGAAGCAGAATGTATTCCTAAGGGCTTCCTCCCCAGGGCCGAGGCCTAGGC
ATGAATGTGGGGAGTGGGCTGTGGGGTTTGAGAGAAGGGAGGCCTTATTCCTCTCCTGCTGCTCCCCACCCCCTGCCCCACCCAACCCCTCCGCTGAGTGTTTTCTGTGAAGGGCTATCCAGAGTTAG
GATGCCCTTGCCCAATTCCTTCCTGAGACCCAGAAGGTAGGGTGGGAGGGCCCAAATGGGAAGGTGACCTAAGCAGAAAGTCTCCAGAAAGGTCATGTCCCCTGGCCCTGCCTTGGCAGAGGTCCCCA
GTGACTTATGCTAGGAGGATTCCATCTGGGTAGACAGTCTGGCCACAAAATCAGCTACTGGACCTCAGCCATCTCTGCTGGAGGCTCTGAGGAGGAGTGAGCATCCCTCACTTGTGGGGGCTCTGTGA
GGAAATGTGCCTTCCCCATTCCCCCGGAGTCCTAGGTCTGGAGCTCCAGGGCTGGGAGAGGGTGAGGGAGATGGGCAGGGGTGTTTTCTCTGACCTTGGGGGCTTAGTCTCAGTCCTGCCTGAACTTT
CCACTAGGCTTGGAACCCTTCCAAGAACCATATTTCTCTCCTTCCCACCAATTTTCCCTTGATGAGGCTTTAGCAGTTTGCTCCCACCACCCCCAGCCCATTTCACAACTCTGATCTTAGTCCAAAGC
AGGGGACACGCCCCCCCACCACCACTTTTTCTCTCTCCCATCTCAGCCTCCTGTGCAGTTCCTTGCCTGCCCGTGCATTTCCTAGAGTCTACTGCCTCCCCCCTGGCTGGGAGGGTGTCTGGGGGGGA
TCTTTCAGGGGCCCTGGCACCCAGGGCCTGTGCTGGCCTAGGAGTGCTGACCAGAAGGCTGCTCTGTTCCCCCCCACCCCCGTTGCTTTCTGGCCCCCTCTTTGGAGCCAGCCACCCACAGGGCTTTG
GTGCCTCAGAAGCAGTGGGCTGCCGGGTCACAGCCGCAGGCTGCAAAAGACCCTCGGAGGGAGCATGGAGTGAGGGGTTCTCTCTCAGGTGTGTATGTATTGGGGGGTGGGGGTGGGTGGAGGGTGTC
AGGGAAGTTGGGGTGGGATCCCAGCCTTCCCTTCAAGAGGCAGGGAGCTCTGGGAGGTGGAGTCCCCACCGCTTTCTCTACTAGGCTCCTCCTGTTCCCCAGGCTTGGGGAGCTTTGCACAAGGAGAC
TGCCCCCAGCCTAGTGGCACCTACCTCATGGGCTCTGGGGCAGGTAGGGGAAGGGCCAGTCCAGCTCTGGTAATGCTGGGGGGAGGCATACCAAAGAATCCAGGGGCAGGGAGTGGGGAGGGTGACTT
CCGAGCTGGCCTCTCCCCTTCCTCTACCCAGACTGGGGCTGGGATCCTCTCCTCCCGCTGTAACCATTTCTACCTCATTTTGCTGCGTGTTGTACATGGACGTATTTATCTCCTGTCTGACGATGCTC
TGCAGTTGTGGTCTGTCTACCTCAGAAGAGACTGTATTTTAAAAGAAAGTATTACACAGTATTAAAGCGATGACATGTG

hide sequence

RefSeq Acc Id:

NM_001384995 ⟹ NP_001371924

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	51,817,899 - 51,848,718 (-)	NCBI
T2T-CHM13v2.0	12	51,781,425 - 51,812,316 (-)	NCBI

Sequence:

show sequence

AGTCCCGCTCCCGCCCGCGGCGGCCGCAGCAGCCGCAGCAGCAGCGGCTCCAGGATGGTGAGCGCCACTGCCCCCCAGCCCAGGCCTGTCGCCCCCGGCCCGCGCCGCCGCCCCGGTCCCCGGGCCGG
ACGCGCCCCCAGGCCGCGCACACTCACCTAGGACCCGGCCGTGATGCCGAGCTCTGTTGAAGATGCACTGGACACCAGAACACGCCCAGCCCCTCAACCAGTGGCCAGAGCAGCACCTGGACGTCTCC
TCCACCACCCCGTCGCCGGCCCACAAGTTGGAGTTGCCCCCTGGGGGTCGCCAACGCTGCCACTACGCTTGGGCACACGACGACATCTCAGCCCTCACTGCCTCCAACCTCCTAAAGCGCTATGCAGA
GAAGTACTCTGGGGTCTTGGATTCTCCCTACGAGCGTCCGGCCCTGGGCGGGTACAGCGACGCCTCCTTCCTCAACGGCGCCAAAGGGGATCCCGAGCCCTGGCCAGGGCCGGAGCCACCCTACCCCT
TGGCCTCACTCCACGAAGGCCTCCCAGGAACCAAATCGGGCGGTGGCGGCGGTTCCGGGGCCCTGGGGGGCTCCCCAGTTTTAGCCGGGAACCTCCCTGAACCCCTCTACGCCGGCAATGCGTGCGGG
GGCCCATCGGCGGCGCCCGAGTACGCGGCCGGCTACGGCGGGGGGTACCTGGCGCCGGGTTACTGCGCGCAGACGGGCGCCGCGCTGCCCCCGCCGCCCCCGGCCGCGCTCCTGCAGCCCCCACCGCC
TCCGGGGTACGGGCCCTCAGCGCCGCTGTACAACTATCCCGCAGGGGGCTACGCAGCGCAGCCCGGCTATGGCGCGCTCCCGCCGCCCCCAGGCCCACCCCCGGCCCCCTACCTGACCCCGGGCCTGC
CCGCGCCCACGCCCCTGCCCGCGCCGGCACCGCCCACCGCCTATGGCTTCCCCACGGCCGCGCCGGGTGCCGAATCCGGGCTGTCGCTGAAGCGCAAGGCCGCCGACGAGGGGCCCGAGGGCCGCTAC
CGCAAGTACGCGTACGAGCCCGCCAAGGCCCCCGTGGCTGACGGAGCCTCCTACCCCGCCGCGGACAACGGCGAATGTCGGGGCAACGGGTTCCGGGCCAAGCCGCCAGGAGCCGCGGAGGAGGCGTC
GGGCAAGTACGGTGGCGGCGTCCCCCTCAAGGTCCTGGGCTCCCCCGTCTACGGCCCGCAACTGGAGCCCTTTGAAAAGTTCCCGGAGCGGGCCCCGGCTCCTCGTGGGGGGTTCGCCGTGCCGTCGG
GGGAGACTCCCAAAGGCGTGGACCCTGGGGCCCTGGAGCTGGTGACGAGCAAGATGGTGGACTGCGGGCCCCCGGTGCAGTGGGCGGATGTGGCGGGCCAGGGCGCGCTCAAGGCGGCGCTGGAGGAG
GAGCTGGTGTGGCCCCTGCTCAGGCCGCCCGCCTACCCGGGCAGCCTGCGCCCGCCGCGGACCGTCCTGCTCTTTGGGCCGCGGGGCGCGGGCAAAGCGCTGCTGGGCCGCTGCCTCGCCACGCAGCT
GGGCGCCACGCTGTTGCGCCTGCGCGGCGCGACCCTGGCTGCGCCCGGCGCCGCCGAGGGCGCGCGCCTCCTCCAGGCCGCCTTCGCGGCCGCGCGCTGCCGCCCACCCTCCGTACTCCTCATCAGCG
AGCTAGAGGCGCTGCTCCCCGCCCGGGACGACGGCGCGGCGGCAGGGGGCGCGCTGCAGGTGCCGCTCCTGGCCTGCCTGGACGGGGGCTGCGGCGCGGGGGCTGACGGCGTGCTGGTTGTGGGCACC
ACCTCGCGGCCCGCGGCTCTGGACGAGGCGACCCGCCGGCGCTTCTCTCTCCGCTTCTACGTGGCGCTGCCCGACAGCCCGGCCCGCGGGCAGATCCTGCAGCGGGCGCTGGCCCAGCAGGGCTGCGC
GCTCAGTGAGCGGGAACTGGCGGCGCTGGTGCAGGGCACGCAGGGCTTCTCTGGGGGCGAGCTGGGGCAGCTGTGCCAGCAGGCGGCGGCCGGGGCGGGCCTCCCGGGGCTGCAGCGCCCCCTCTCCT
ACAAGGACCTGGAGGCGGCGCTGGCCAAGGTGGGCCCTAGGGCCTCTGCCAAGGAACTGGACTCGTTCGTGGAGTGGGACAAAATGTACGGCTCCGGACACTGACGGCGCGCGGGGGAGGCCGCGGGA
GCCGCAGTCCCTCCGTCCCCGCCGCCTCCGCGTGGGAGGGATGTCACTGACTAAACCCGGCTGGCAGGGGCTGGAGTGGTGAATGTGGGATCGGGGACAGGAGGGGTCTGCCGGTGGATATTTTTTTT
TTCGTGGGAAGGAAAATGCTTCTGCCAGGCAGATGCCATATGCGCCGTGTACTCAGGTTTTTCCTATTTATTGTGGACTGGAAGCTCGCCATCTCCGCCCGGCAGACCGGGCAGATCCGGCATGGGCT
GGCACCCGGGGCCTTAAGAACTCCTGCTCTCTTGCCACAACGCTTTTGTCTCCTCGCTATCTGAATGGCACCCTCCTTCTCCCTCACTCTCTCCATCCCATTCTCTGCATTCTCTTGGTTTTCTCTCC
CTTTTGCTTTGTCGCTGACACCCCTGCCCACCCCATGCTGGCCCTGTTTCTCTCCTGCCCCTCCCTCCCCAGCTCTCCATCCCTCACCCTCTGTGCTTCTGTCTCCATCCCTGGCTCTCCAGCGTCCC
TGGCCTTTTGGTCCCTGAGCTTTAATGCCTTTCCCTGCCTTCTGTTCTTATTTGGACTGCAGTGGCCCTTTGCAGGAGCTCTGGAGGCCCAGGGGCTGAGGAGGAGGGTTACCCCTCTACCCATCTGA
AACCTAGGGTCTAGGGGGATCAAGGAAAAAAAGTCCCCAAAGAAGGGGAATTTTTTGTTTGTTTTTGAGGGGAGATCCCAGAAATGTAGCTTGTTTCATATTTTAGTCTTCTTATTTTTGTAAAATGT
GTAGAATTTGCTGTTTTTCTTTTTCTTTTGACAACTCAGGAAGAAACTGACCTCAGAAAGAATGTTAGACTTTGGCTGCTCTCCTGTGTGCCCCTCACACCTGCCCCCTCCCCCCCACTCCATCCAGG
GGACCAAATTCTCCCAGACACTCAAAAAATGAGACTTACGGGGAAGGGGAGAGGAAGACCCAGAGGCCTCAGTGAAACCCCAGCTATTCCTGGTCAGAAGCAGAATGTATTCCTAAGGGCTTCCTCCC
CAGGGCCGAGGCCTAGGCATGAATGTGGGGAGTGGGCTGTGGGGTTTGAGAGAAGGGAGGCCTTATTCCTCTCCTGCTGCTCCCCACCCCCTGCCCCACCCAACCCCTCCGCTGAGTGTTTTCTGTGA
AGGGCTATCCAGAGTTAGGATGCCCTTGCCCAATTCCTTCCTGAGACCCAGAAGGTAGGGTGGGAGGGCCCAAATGGGAAGGTGACCTAAGCAGAAAGTCTCCAGAAAGGTCATGTCCCCTGGCCCTG
CCTTGGCAGAGGTCCCCAGTGACTTATGCTAGGAGGATTCCATCTGGGTAGACAGTCTGGCCACAAAATCAGCTACTGGACCTCAGCCATCTCTGCTGGAGGCTCTGAGGAGGAGTGAGCATCCCTCA
CTTGTGGGGGCTCTGTGAGGAAATGTGCCTTCCCCATTCCCCCGGAGTCCTAGGTCTGGAGCTCCAGGGCTGGGAGAGGGTGAGGGAGATGGGCAGGGGTGTTTTCTCTGACCTTGGGGGCTTAGTCT
CAGTCCTGCCTGAACTTTCCACTAGGCTTGGAACCCTTCCAAGAACCATATTTCTCTCCTTCCCACCAATTTTCCCTTGATGAGGCTTTAGCAGTTTGCTCCCACCACCCCCAGCCCATTTCACAACT
CTGATCTTAGTCCAAAGCAGGGGACACGCCCCCCCACCACCACTTTTTCTCTCTCCCATCTCAGCCTCCTGTGCAGTTCCTTGCCTGCCCGTGCATTTCCTAGAGTCTACTGCCTCCCCCCTGGCTGG
GAGGGTGTCTGGGGGGGATCTTTCAGGGGCCCTGGCACCCAGGGCCTGTGCTGGCCTAGGAGTGCTGACCAGAAGGCTGCTCTGTTCCCCCCCACCCCCGTTGCTTTCTGGCCCCCTCTTTGGAGCCA
GCCACCCACAGGGCTTTGGTGCCTCAGAAGCAGTGGGCTGCCGGGTCACAGCCGCAGGCTGCAAAAGACCCTCGGAGGGAGCATGGAGTGAGGGGTTCTCTCTCAGGTGTGTATGTATTGGGGGGTGG
GGGTGGGTGGAGGGTGTCAGGGAAGTTGGGGTGGGATCCCAGCCTTCCCTTCAAGAGGCAGGGAGCTCTGGGAGGTGGAGTCCCCACCGCTTTCTCTACTAGGCTCCTCCTGTTCCCCAGGCTTGGGG
AGCTTTGCACAAGGAGACTGCCCCCAGCCTAGTGGCACCTACCTCATGGGCTCTGGGGCAGGTAGGGGAAGGGCCAGTCCAGCTCTGGTAATGCTGGGGGGAGGCATACCAAAGAATCCAGGGGCAGG
GAGTGGGGAGGGTGACTTCCGAGCTGGCCTCTCCCCTTCCTCTACCCAGACTGGGGCTGGGATCCTCTCCTCCCGCTGTAACCATTTCTACCTCATTTTGCTGCGTGTTGTACATGGACGTATTTATC
TCCTGTCTGACGATGCTCTGCAGTTGTGGTCTGTCTACCTCAGAAGAGACTGTATTTTAAAAGAAAGTATTACACAGTATTAAAGCGATGACATGTG

hide sequence

RefSeq Acc Id:

NM_001384996 ⟹ NP_001371925

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	51,817,899 - 51,848,718 (-)	NCBI
T2T-CHM13v2.0	12	51,781,425 - 51,812,316 (-)	NCBI

Sequence:

show sequence

AGTCCCGCTCCCGCCCGCGGCGGCCGCAGCAGCCGCAGCAGCAGCGGCTCCAGGATGGTGAGCGCCACTGCCCCCCAGCCCAGGCCTGTCGCCCCCGGCCCGCGCCGCCGCCCCGGTCCCCGGGCCGG
ACGCGCCCCCAGGCCGCGCACACTCACCTAGGACCCGGCCGTGATGCCGAGGGCCAAGTCCCAGGCAAAGAGGAGCCCCAGATGCAGACCCAAGAGGAGACAGGCACTGGAAGGACCTCACCAGCCCC
AGATCACAGGGCCACCCCAAGTGGACAGAGGACAGTCCATGGCGGCCTCCACTGAGCACCTGCGCCCTCCCCGCAGTGCCCATCACTGAGTGCACAGCTCTGTTGAAGATGCACTGGACACCAGAACA
CGCCCAGCCCCTCAACCAGTGGCCAGAGCAGCACCTGGACGTCTCCTCCACCACCCCGTCGCCGGCCCACAAGTTGGAGTTGCCCCCTGGGGGTCGCCAACGCTGCCACTACGCTTGGGCACACGACG
ACATCTCAGCCCTCACTGCCTCCAACCTCCTAAAGCGCTATGCAGAGAAGTACTCTGGGGTCTTGGATTCTCCCTACGAGCGTCCGGCCCTGGGCGGGTACAGCGACGCCTCCTTCCTCAACGGCGCC
AAAGGGGATCCCGAGCCCTGGCCAGGGCCGGAGCCACCCTACCCCTTGGCCTCACTCCACGAAGGCCTCCCAGGAACCAAATCGGGCGGTGGCGGCGGTTCCGGGGCCCTGGGGGGCTCCCCAGTTTT
AGCCGGGAACCTCCCTGAACCCCTCTACGCCGGCAATGCGTGCGGGGGCCCATCGGCGGCGCCCGAGTACGCGGCCGGCTACGGCGGGGGGTACCTGGCGCCGGGTTACTGCGCGCAGACGGGCGCCG
CGCTGCCCCCGCCGCCCCCGGCCGCGCTCCTGCAGCCCCCACCGCCTCCGGGGTACGGGCCCTCAGCGCCGCTGTACAACTATCCCGCAGGGGGCTACGCAGCGCAGCCCGGCTATGGCGCGCTCCCG
CCGCCCCCAGGCCCACCCCCGGCCCCCTACCTGACCCCGGGCCTGCCCGCGCCCACGCCCCTGCCCGCGCCGGCACCGCCCACCGCCTATGGCTTCCCCACGGCCGCGCCGGGTGCCGAATCCGGGCT
GTCGCTGAAGCGCAAGGCCGCCGACGAGGGGCCCGAGGGCCGCTACCGCAAGTACGCGTACGAGCCCGCCAAGGCCCCCGTGGCTGACGGAGCCTCCTACCCCGCCGCGGACAACGGCGAATGTCGGG
GCAACGGGTTCCGGGCCAAGCCGCCAGGAGCCGCGGAGGAGGCGTCGGGCAAGTACGGTGGCGGCGTCCCCCTCAAGGTCCTGGGCTCCCCCGTCTACGGCCCGCAACTGGAGCCCTTTGAAAAGTTC
CCGGAGCGGGCCCCGGCTCCTCGTGGGGGGTTCGCCGTGCCGTCGGGGGAGACTCCCAAAGGCGTGGACCCTGGGGCCCTGGAGCTGGTGACGAGCAAGATGGTGGACTGCGGGCCCCCGGTGCAGTG
GGCGGATGTGGCGGGCCAGGGCGCGCTCAAGGCGGCGCTGGAGGAGGAGCTGGTGTGGCCCCTGCTCAGGCCGCCCGCCTACCCGGGCAGCCTGCGCCCGCCGCGGACCGTCCTGCTCTTTGGGCCGC
GGGGCGCGGGCAAAGCGCTGCTGGGCCGCTGCCTCGCCACGCAGCTGGGCGCCACGCTGTTGCGCCTGCGCGGCGCGACCCTGGCTGCGCCCGGCGCCGCCGAGGGCGCGCGCCTCCTCCAGGCCGCC
TTCGCGGCCGCGCGCTGCCGCCCACCCTCCGTACTCCTCATCAGCGAGCTAGAGGCGCTGCTCCCCGCCCGGGACGACGGCGCGGCGGCAGGGGGCGCGCTGCAGGTGCCGCTCCTGGCCTGCCTGGA
CGGGGGCTGCGGCGCGGGGGCTGACGGCGTGCTGGTTGTGGGCACCACCTCGCGGCCCGCGGCTCTGGACGAGGCGACCCGCCGGCGCTTCTCTCTCCGCTTCTACGTGGCGCTGCCCGACAGCCCGG
CCCGCGGGCAGATCCTGCAGCGGGCGCTGGCCCAGCAGGGCTGCGCGCTCAGTGAGCGGGAACTGGCGGCGCTGGTGCAGGGCACGCAGGGCTTCTCTGGGGGCGAGCTGGGGCAGCTGTGCCAGCAG
GCGGCGGCCGGGGCGGGCCTCCCGGGGCTGCAGCGCCCCCTCTCCTACAAGGACCTGGAGGCGGCGCTGGCCAAGGTGGGCCCTAGGGCCTCTGCCAAGGAACTGGACTCGTTCGTGGAGTGGGACAA
AATGTACGGCTCCGGACACTGACGGCGCGCGGGGGAGGCCGCGGGAGCCGCAGTCCCTCCGTCCCCGCCGCCTCCGCGTGGGAGGGATGTCACTGACTAAACCCGGCTGGCAGGGGCTGGAGTGGTGA
ATGTGGGATCGGGGACAGGAGGGGTCTGCCGGTGGATATTTTTTTTTTCGTGGGAAGGAAAATGCTTCTGCCAGGCAGATGCCATATGCGCCGTGTACTCAGGTTTTTCCTATTTATTGTGGACTGGA
AGCTCGCCATCTCCGCCCGGCAGACCGGGCAGATCCGGCATGGGCTGGCACCCGGGGCCTTAAGAACTCCTGCTCTCTTGCCACAACGCTTTTGTCTCCTCGCTATCTGAATGGCACCCTCCTTCTCC
CTCACTCTCTCCATCCCATTCTCTGCATTCTCTTGGTTTTCTCTCCCTTTTGCTTTGTCGCTGACACCCCTGCCCACCCCATGCTGGCCCTGTTTCTCTCCTGCCCCTCCCTCCCCAGCTCTCCATCC
CTCACCCTCTGTGCTTCTGTCTCCATCCCTGGCTCTCCAGCGTCCCTGGCCTTTTGGTCCCTGAGCTTTAATGCCTTTCCCTGCCTTCTGTTCTTATTTGGACTGCAGTGGCCCTTTGCAGGAGCTCT
GGAGGCCCAGGGGCTGAGGAGGAGGGTTACCCCTCTACCCATCTGAAACCTAGGGTCTAGGGGGATCAAGGAAAAAAAGTCCCCAAAGAAGGGGAATTTTTTGTTTGTTTTTGAGGGGAGATCCCAGA
AATGTAGCTTGTTTCATATTTTAGTCTTCTTATTTTTGTAAAATGTGTAGAATTTGCTGTTTTTCTTTTTCTTTTGACAACTCAGGAAGAAACTGACCTCAGAAAGAATGTTAGACTTTGGCTGCTCT
CCTGTGTGCCCCTCACACCTGCCCCCTCCCCCCCACTCCATCCAGGGGACCAAATTCTCCCAGACACTCAAAAAATGAGACTTACGGGGAAGGGGAGAGGAAGACCCAGAGGCCTCAGTGAAACCCCA
GCTATTCCTGGTCAGAAGCAGAATGTATTCCTAAGGGCTTCCTCCCCAGGGCCGAGGCCTAGGCATGAATGTGGGGAGTGGGCTGTGGGGTTTGAGAGAAGGGAGGCCTTATTCCTCTCCTGCTGCTC
CCCACCCCCTGCCCCACCCAACCCCTCCGCTGAGTGTTTTCTGTGAAGGGCTATCCAGAGTTAGGATGCCCTTGCCCAATTCCTTCCTGAGACCCAGAAGGTAGGGTGGGAGGGCCCAAATGGGAAGG
TGACCTAAGCAGAAAGTCTCCAGAAAGGTCATGTCCCCTGGCCCTGCCTTGGCAGAGGTCCCCAGTGACTTATGCTAGGAGGATTCCATCTGGGTAGACAGTCTGGCCACAAAATCAGCTACTGGACC
TCAGCCATCTCTGCTGGAGGCTCTGAGGAGGAGTGAGCATCCCTCACTTGTGGGGGCTCTGTGAGGAAATGTGCCTTCCCCATTCCCCCGGAGTCCTAGGTCTGGAGCTCCAGGGCTGGGAGAGGGTG
AGGGAGATGGGCAGGGGTGTTTTCTCTGACCTTGGGGGCTTAGTCTCAGTCCTGCCTGAACTTTCCACTAGGCTTGGAACCCTTCCAAGAACCATATTTCTCTCCTTCCCACCAATTTTCCCTTGATG
AGGCTTTAGCAGTTTGCTCCCACCACCCCCAGCCCATTTCACAACTCTGATCTTAGTCCAAAGCAGGGGACACGCCCCCCCACCACCACTTTTTCTCTCTCCCATCTCAGCCTCCTGTGCAGTTCCTT
GCCTGCCCGTGCATTTCCTAGAGTCTACTGCCTCCCCCCTGGCTGGGAGGGTGTCTGGGGGGGATCTTTCAGGGGCCCTGGCACCCAGGGCCTGTGCTGGCCTAGGAGTGCTGACCAGAAGGCTGCTC
TGTTCCCCCCCACCCCCGTTGCTTTCTGGCCCCCTCTTTGGAGCCAGCCACCCACAGGGCTTTGGTGCCTCAGAAGCAGTGGGCTGCCGGGTCACAGCCGCAGGCTGCAAAAGACCCTCGGAGGGAGC
ATGGAGTGAGGGGTTCTCTCTCAGGTGTGTATGTATTGGGGGGTGGGGGTGGGTGGAGGGTGTCAGGGAAGTTGGGGTGGGATCCCAGCCTTCCCTTCAAGAGGCAGGGAGCTCTGGGAGGTGGAGTC
CCCACCGCTTTCTCTACTAGGCTCCTCCTGTTCCCCAGGCTTGGGGAGCTTTGCACAAGGAGACTGCCCCCAGCCTAGTGGCACCTACCTCATGGGCTCTGGGGCAGGTAGGGGAAGGGCCAGTCCAG
CTCTGGTAATGCTGGGGGGAGGCATACCAAAGAATCCAGGGGCAGGGAGTGGGGAGGGTGACTTCCGAGCTGGCCTCTCCCCTTCCTCTACCCAGACTGGGGCTGGGATCCTCTCCTCCCGCTGTAAC
CATTTCTACCTCATTTTGCTGCGTGTTGTACATGGACGTATTTATCTCCTGTCTGACGATGCTCTGCAGTTGTGGTCTGTCTACCTCAGAAGAGACTGTATTTTAAAAGAAAGTATTACACAGTATTA
AAGCGATGACATGTG

hide sequence

RefSeq Acc Id:

XM_017019298 ⟹ XP_016874787

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	51,817,899 - 51,840,524 (-)	NCBI

Sequence:

show sequence

ACCTCAGGTGATCAGCCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAACCACCGTG
CCTGGCCAATGTTATTAATTCCCTTTGTAGCCCCATGTATTTTTCTTTTATGCATTGAGGAAGTATTTTTGAGAACAGGTCATAGGTTTTCCAGACTGCGAAAGGGGCCTAAGGCTGAAAGTGGTGAA
GAGCTCTGGCCTCATCCTCCATCTCTCGCCCATGCAGGGCCAAGTCCCAGGCAAAGAGGAGCCCCAGATGCAGACCCAAGAGGAGACAGGCACTGGAAGGACCTCACCAGCCCCAGATCACAGGGCCA
CCCCAAGTGGACAGAGGACAGTCCATGGCGGCCTCCACTGAGCACCTGCGCCCTCCCCGCAGTGCCCATCACTGAGTGCACAGCTCTGTTGAAGATGCACTGGACACCAGAACACGCCCAGCCCCTCA
ACCAGTGGCCAGAGCAGCACCTGGACGTCTCCTCCACCACCCCGTCGCCGGCCCACAAGTTGGAGTTGCCCCCTGGGGGTCGCCAACGCTGCCACTACGCTTGGGCACACGACGACATCTCAGCCCTC
ACTGCCTCCAACCTCCTAAAGCGCTATGCAGAGAAGTACTCTGGGGTCTTGGATTCTCCCTACGAGCGTCCGGCCCTGGGCGGGTACAGCGACGCCTCCTTCCTCAACGGCGCCAAAGGGGATCCCGA
GCCCTGGCCAGGGCCGGAGCCACCCTACCCCTTGGCCTCACTCCACGAAGGCCTCCCAGGAACCAAATCGGGCGGTGGCGGCGGTTCCGGGGCCCTGGGGGGCTCCCCAGTTTTAGCCGGGAACCTCC
CTGAACCCCTCTACGCCGGCAATGCGTGCGGGGGCCCATCGGCGGCGCCCGAGTACGCGGCCGGCTACGGCGGGGGGTACCTGGCGCCGGGTTACTGCGCGCAGACGGGCGCCGCGCTGCCCCCGCCG
CCCCCGGCCGCGCTCCTGCAGCCCCCACCGCCTCCGGGGTACGGGCCCTCAGCGCCGCTGTACAACTATCCCGCAGGGGGCTACGCAGCGCAGCCCGGCTATGGCGCGCTCCCGCCGCCCCCAGGCCC
ACCCCCGGCCCCCTACCTGACCCCGGGCCTGCCCGCGCCCACGCCCCTGCCCGCGCCGGCACCGCCCACCGCCTATGGCTTCCCCACGGCCGCGCCGGGTGCCGAATCCGGGCTGTCGCTGAAGCGCA
AGGCCGCCGACGAGGGGCCCGAGGGCCGCTACCGCAAGTACGCGTACGAGCCCGCCAAGGCCCCCGTGGCTGACGGAGCCTCCTACCCCGCCGCGGACAACGGCGAATGTCGGGGCAACGGGTTCCGG
GCCAAGCCGCCAGGAGCCGCGGAGGAGGCGTCGGGCAAGTACGGTGGCGGCGTCCCCCTCAAGGTCCTGGGCTCCCCCGTCTACGGCCCGCAACTGGAGCCCTTTGAAAAGTTCCCGGAGCGGGCCCC
GGCTCCTCGTGGGGGGTTCGCCGTGCCGTCGGGGGAGACTCCCAAAGGCGTGGACCCTGGGGCCCTGGAGCTGGTGACGAGCAAGATGGTGGACTGCGGGCCCCCGGTGCAGTGGGCGGATGTGGCGG
GCCAGGGCGCGCTCAAGGCGGCGCTGGAGGAGGAGCTGGTGTGGCCCCTGCTCAGGCCGCCCGCCTACCCGGGCAGCCTGCGCCCGCCGCGGACCGTCCTGCTCTTTGGGCCGCGGGGCGCGGGCAAA
GCGCTGCTGGGCCGCTGCCTCGCCACGCAGCTGGGCGCCACGCTGTTGCGCCTGCGCGGCGCGACCCTGGCTGCGCCCGGCGCCGCCGAGGGCGCGCGCCTCCTCCAGGCCGCCTTCGCGGCCGCGCG
CTGCCGCCCACCCTCCGTACTCCTCATCAGCGAGCTAGAGGCGCTGCTCCCCGCCCGGGACGACGGCGCGGCGGCAGGGGGCGCGCTGCAGGTGCCGCTCCTGGCCTGCCTGGACGGGGGCTGCGGCG
CGGGGGCTGACGGCGTGCTGGTTGTGGGCACCACCTCGCGGCCCGCGGCTCTGGACGAGGCGACCCGCCGGCGCTTCTCTCTCCGCTTCTACGTGGCGCTGCCCGACAGCCCGGCCCGCGGGCAGATC
CTGCAGCGGGCGCTGGCCCAGCAGGGCTGCGCGCTCAGTGAGCGGGAACTGGCGGCGCTGGTGCAGGGCACGCAGGGCTTCTCTGGGGGCGAGCTGGGGCAGCTGTGCCAGCAGGCGGCGGCCGGGGC
GGGCCTCCCGGGGCTGCAGCGCCCCCTCTCCTACAAGGACCTGGAGGCGGCGCTGGCCAAGGTGGGCCCTAGGGCCTCTGCCAAGGAACTGGACTCGTTCGTGGAGTGGGACAAAATGTACGGCTCCG
GACACTGACGGCGCGCGGGGGAGGCCGCGGGAGCCGCAGTCCCTCCGTCCCCGCCGCCTCCGCGTGGGAGGGATGTCACTGACTAAACCCGGCTGGCAGGGGCTGGAGTGGTGAATGTGGGATCGGGG
ACAGGAGGGGTCTGCCGGTGGATATTTTTTTTTTCGTGGGAAGGAAAATGCTTCTGCCAGGCAGATGCCATATGCGCCGTGTACTCAGGTTTTTCCTATTTATTGTGGACTGGAAGCTCGCCATCTCC
GCCCGGCAGACCGGGCAGATCCGGCATGGGCTGGCACCCGGGGCCTTAAGAACTCCTGCTCTCTTGCCACAACGCTTTTGTCTCCTCGCTATCTGAATGGCACCCTCCTTCTCCCTCACTCTCTCCAT
CCCATTCTCTGCATTCTCTTGGTTTTCTCTCCCTTTTGCTTTGTCGCTGACACCCCTGCCCACCCCATGCTGGCCCTGTTTCTCTCCTGCCCCTCCCTCCCCAGCTCTCCATCCCTCACCCTCTGTGC
TTCTGTCTCCATCCCTGGCTCTCCAGCGTCCCTGGCCTTTTGGTCCCTGAGCTTTAATGCCTTTCCCTGCCTTCTGTTCTTATTTGGACTGCAGTGGCCCTTTGCAGGAGCTCTGGAGGCCCAGGGGC
TGAGGAGGAGGGTTACCCCTCTACCCATCTGAAACCTAGGGTCTAGGGGGATCAAGGAAAAAAAGTCCCCAAAGAAGGGGAATTTTTTGTTTGTTTTTGAGGGGAGATCCCAGAAATGTAGCTTGTTT
CATATTTTAGTCTTCTTATTTTTGTAAAATGTGTAGAATTTGCTGTTTTTCTTTTTCTTTTGACAACTCAGGAAGAAACTGACCTCAGAAAGAATGTTAGACTTTGGCTGCTCTCCTGTGTGCCCCTC
ACACCTGCCCCCTCCCCCCCACTCCATCCAGGGGACCAAATTCTCCCAGACACTCAAAAAATGAGACTTACGGGGAAGGGGAGAGGAAGACCCAGAGGCCTCAGTGAAACCCCAGCTATTCCTGGTCA
GAAGCAGAATGTATTCCTAAGGGCTTCCTCCCCAGGGCCGAGGCCTAGGCATGAATGTGGGGAGTGGGCTGTGGGGTTTGAGAGAAGGGAGGCCTTATTCCTCTCCTGCTGCTCCCCACCCCCTGCCC
CACCCAACCCCTCCGCTGAGTGTTTTCTGTGAAGGGCTATCCAGAGTTAGGATGCCCTTGCCCAATTCCTTCCTGAGACCCAGAAGGTAGGGTGGGAGGGCCCAAATGGGAAGGTGACCTAAGCAGAA
AGTCTCCAGAAAGGTCATGTCCCCTGGCCCTGCCTTGGCAGAGGTCCCCAGTGACTTATGCTAGGAGGATTCCATCTGGGTAGACAGTCTGGCCACAAAATCAGCTACTGGACCTCAGCCATCTCTGC
TGGAGGCTCTGAGGAGGAGTGAGCATCCCTCACTTGTGGGGGCTCTGTGAGGAAATGTGCCTTCCCCATTCCCCCGGAGTCCTAGGTCTGGAGCTCCAGGGCTGGGAGAGGGTGAGGGAGATGGGCAG
GGGTGTTTTCTCTGACCTTGGGGGCTTAGTCTCAGTCCTGCCTGAACTTTCCACTAGGCTTGGAACCCTTCCAAGAACCATATTTCTCTCCTTCCCACCAATTTTCCCTTGATGAGGCTTTAGCAGTT
TGCTCCCACCACCCCCAGCCCATTTCACAACTCTGATCTTAGTCCAAAGCAGGGGACACGCCCCCCCACCACCACTTTTTCTCTCTCCCATCTCAGCCTCCTGTGCAGTTCCTTGCCTGCCCGTGCAT
TTCCTAGAGTCTACTGCCTCCCCCCTGGCTGGGAGGGTGTCTGGGGGGGATCTTTCAGGGGCCCTGGCACCCAGGGCCTGTGCTGGCCTAGGAGTGCTGACCAGAAGGCTGCTCTGTTCCCCCCCACC
CCCGTTGCTTTCTGGCCCCCTCTTTGGAGCCAGCCACCCACAGGGCTTTGGTGCCTCAGAAGCAGTGGGCTGCCGGGTCACAGCCGCAGGCTGCAAAAGACCCTCGGAGGGAGCATGGAGTGAGGGGT
TCTCTCTCAGGTGTGTATGTATTGGGGGGTGGGGGTGGGTGGAGGGTGTCAGGGAAGTTGGGGTGGGATCCCAGCCTTCCCTTCAAGAGGCAGGGAGCTCTGGGAGGTGGAGTCCCCACCGCTTTCTC
TACTAGGCTCCTCCTGTTCCCCAGGCTTGGGGAGCTTTGCACAAGGAGACTGCCCCCAGCCTAGTGGCACCTACCTCATGGGCTCTGGGGCAGGTAGGGGAAGGGCCAGTCCAGCTCTGGTAATGCTG
GGGGGAGGCATACCAAAGAATCCAGGGGCAGGGAGTGGGGAGGGTGACTTCCGAGCTGGCCTCTCCCCTTCCTCTACCCAGACTGGGGCTGGGATCCTCTCCTCCCGCTGTAACCATTTCTACCTCAT
TTTGCTGCGTGTTGTACATGGACGTATTTATCTCCTGTCTGACGATGCTCTGCAGTTGTGGTCTGTCTACCTCAGAAGAGACTGTATTTTAAAAGAAAGTATTACACAGTATTAAAGCGATGACATGT
GGTTTGCA

hide sequence

RefSeq Acc Id:

XM_017019299 ⟹ XP_016874788

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	51,817,899 - 51,847,580 (-)	NCBI

Sequence:

show sequence

TCCCACTCCGTCAGGTCTTTGTCCAGCGGCCCCTGTGTGTGTGTGTGGGAGGGGTGGGGGCTGG
GTTACTGGCCCGGAGATTCCCCAGCATGGTGACGGGGCAGTGACAGGAGGCCGAGGCTACTTAGGGTCCCCGCGCCCCTAACACCCACCCTCTTCATGTCTTCTCCTCTGGCCCGGGAGAACAGAGCC
CGCGTCTCAGAGTCAGGGGGTTGTAGGAGGCTGTACTCACCTTCACCCTGGGGCTACAGGCAACAAGGGGGACCCCCGGAGCGCCCAGCTCTCCAGAGAGGGCCCCTCAAACTTCCCCACCGCAAGAG
CCCTCTCCTGTTCTACACAGAGATTCGCATGCTAGCAACCCCCCCGCCGCTGCAGAGGGTCCTTCGCAGATTGCTGAGCACCCTGTAGGTGATCAGCAAATGCTGGTGCCCTTCCCCAGCCCCGCTGG
TCCCCCTGCCCCCGCCAGAGGAGGAGGCCTGGGAAGGGGTCTGCGCGGGGCAGAGAGCGCGCGGCCTGGACCCTGCGCCCAGCGGCGGCCCGGAGCGCAGGGGTGGGTGGACGGGTGGGTGGGCTGTT
AAAGGGACGGTCACTAAATCAGGATTAGGCCGTAGGGCTGTCAGGCTGCCGGCCCTGTCTCCATGGATACCTAATTTGGAGGAGAATAGAGGACTGAAGAATGTTTGTGTTGTCCGCACGGGCTGTGG
CGGCGGAGCGGTCTCCTGCTTTCCGCCCGGCAGCGAGGAGTGGGGACCCGGTTCCAGCCCAACTCTGGGCTTACGGCGCAGGGCCAAGTCCCAGGCAAAGAGGAGCCCCAGATGCAGACCCAAGAGGA
GACAGGCACTGGAAGGACCTCACCAGCCCCAGATCACAGGGCCACCCCAAGTGGACAGAGGACAGTCCATGGCGGCCTCCACTGAGCACCTGCGCCCTCCCCGCAGTGCCCATCACTGAGTGCACAGC
TCTGTTGAAGATGCACTGGACACCAGAACACGCCCAGCCCCTCAACCAGTGGCCAGAGCAGCACCTGGACGTCTCCTCCACCACCCCGTCGCCGGCCCACAAGTTGGAGTTGCCCCCTGGGGGTCGCC
AACGCTGCCACTACGCTTGGGCACACGACGACATCTCAGCCCTCACTGCCTCCAACCTCCTAAAGCGCTATGCAGAGAAGTACTCTGGGGTCTTGGATTCTCCCTACGAGCGTCCGGCCCTGGGCGGG
TACAGCGACGCCTCCTTCCTCAACGGCGCCAAAGGGGATCCCGAGCCCTGGCCAGGGCCGGAGCCACCCTACCCCTTGGCCTCACTCCACGAAGGCCTCCCAGGAACCAAATCGGGCGGTGGCGGCGG
TTCCGGGGCCCTGGGGGGCTCCCCAGTTTTAGCCGGGAACCTCCCTGAACCCCTCTACGCCGGCAATGCGTGCGGGGGCCCATCGGCGGCGCCCGAGTACGCGGCCGGCTACGGCGGGGGGTACCTGG
CGCCGGGTTACTGCGCGCAGACGGGCGCCGCGCTGCCCCCGCCGCCCCCGGCCGCGCTCCTGCAGCCCCCACCGCCTCCGGGGTACGGGCCCTCAGCGCCGCTGTACAACTATCCCGCAGGGGGCTAC
GCAGCGCAGCCCGGCTATGGCGCGCTCCCGCCGCCCCCAGGCCCACCCCCGGCCCCCTACCTGACCCCGGGCCTGCCCGCGCCCACGCCCCTGCCCGCGCCGGCACCGCCCACCGCCTATGGCTTCCC
CACGGCCGCGCCGGGTGCCGAATCCGGGCTGTCGCTGAAGCGCAAGGCCGCCGACGAGGGGCCCGAGGGCCGCTACCGCAAGTACGCGTACGAGCCCGCCAAGGCCCCCGTGGCTGACGGAGCCTCCT
ACCCCGCCGCGGACAACGGCGAATGTCGGGGCAACGGGTTCCGGGCCAAGCCGCCAGGAGCCGCGGAGGAGGCGTCGGGCAAGTACGGTGGCGGCGTCCCCCTCAAGGTCCTGGGCTCCCCCGTCTAC
GGCCCGCAACTGGAGCCCTTTGAAAAGTTCCCGGAGCGGGCCCCGGCTCCTCGTGGGGGGTTCGCCGTGCCGTCGGGGGAGACTCCCAAAGGCGTGGACCCTGGGGCCCTGGAGCTGGTGACGAGCAA
GATGGTGGACTGCGGGCCCCCGGTGCAGTGGGCGGATGTGGCGGGCCAGGGCGCGCTCAAGGCGGCGCTGGAGGAGGAGCTGGTGTGGCCCCTGCTCAGGCCGCCCGCCTACCCGGGCAGCCTGCGCC
CGCCGCGGACCGTCCTGCTCTTTGGGCCGCGGGGCGCGGGCAAAGCGCTGCTGGGCCGCTGCCTCGCCACGCAGCTGGGCGCCACGCTGTTGCGCCTGCGCGGCGCGACCCTGGCTGCGCCCGGCGCC
GCCGAGGGCGCGCGCCTCCTCCAGGCCGCCTTCGCGGCCGCGCGCTGCCGCCCACCCTCCGTACTCCTCATCAGCGAGCTAGAGGCGCTGCTCCCCGCCCGGGACGACGGCGCGGCGGCAGGGGGCGC
GCTGCAGGTGCCGCTCCTGGCCTGCCTGGACGGGGGCTGCGGCGCGGGGGCTGACGGCGTGCTGGTTGTGGGCACCACCTCGCGGCCCGCGGCTCTGGACGAGGCGACCCGCCGGCGCTTCTCTCTCC
GCTTCTACGTGGCGCTGCCCGACAGCCCGGCCCGCGGGCAGATCCTGCAGCGGGCGCTGGCCCAGCAGGGCTGCGCGCTCAGTGAGCGGGAACTGGCGGCGCTGGTGCAGGGCACGCAGGGCTTCTCT
GGGGGCGAGCTGGGGCAGCTGTGCCAGCAGGCGGCGGCCGGGGCGGGCCTCCCGGGGCTGCAGCGCCCCCTCTCCTACAAGGACCTGGAGGCGGCGCTGGCCAAGGTGGGCCCTAGGGCCTCTGCCAA
GGAACTGGACTCGTTCGTGGAGTGGGACAAAATGTACGGCTCCGGACACTGACGGCGCGCGGGGGAGGCCGCGGGAGCCGCAGTCCCTCCGTCCCCGCCGCCTCCGCGTGGGAGGGATGTCACTGACT
AAACCCGGCTGGCAGGGGCTGGAGTGGTGAATGTGGGATCGGGGACAGGAGGGGTCTGCCGGTGGATATTTTTTTTTTCGTGGGAAGGAAAATGCTTCTGCCAGGCAGATGCCATATGCGCCGTGTAC
TCAGGTTTTTCCTATTTATTGTGGACTGGAAGCTCGCCATCTCCGCCCGGCAGACCGGGCAGATCCGGCATGGGCTGGCACCCGGGGCCTTAAGAACTCCTGCTCTCTTGCCACAACGCTTTTGTCTC
CTCGCTATCTGAATGGCACCCTCCTTCTCCCTCACTCTCTCCATCCCATTCTCTGCATTCTCTTGGTTTTCTCTCCCTTTTGCTTTGTCGCTGACACCCCTGCCCACCCCATGCTGGCCCTGTTTCTC
TCCTGCCCCTCCCTCCCCAGCTCTCCATCCCTCACCCTCTGTGCTTCTGTCTCCATCCCTGGCTCTCCAGCGTCCCTGGCCTTTTGGTCCCTGAGCTTTAATGCCTTTCCCTGCCTTCTGTTCTTATT
TGGACTGCAGTGGCCCTTTGCAGGAGCTCTGGAGGCCCAGGGGCTGAGGAGGAGGGTTACCCCTCTACCCATCTGAAACCTAGGGTCTAGGGGGATCAAGGAAAAAAAGTCCCCAAAGAAGGGGAATT
TTTTGTTTGTTTTTGAGGGGAGATCCCAGAAATGTAGCTTGTTTCATATTTTAGTCTTCTTATTTTTGTAAAATGTGTAGAATTTGCTGTTTTTCTTTTTCTTTTGACAACTCAGGAAGAAACTGACC
TCAGAAAGAATGTTAGACTTTGGCTGCTCTCCTGTGTGCCCCTCACACCTGCCCCCTCCCCCCCACTCCATCCAGGGGACCAAATTCTCCCAGACACTCAAAAAATGAGACTTACGGGGAAGGGGAGA
GGAAGACCCAGAGGCCTCAGTGAAACCCCAGCTATTCCTGGTCAGAAGCAGAATGTATTCCTAAGGGCTTCCTCCCCAGGGCCGAGGCCTAGGCATGAATGTGGGGAGTGGGCTGTGGGGTTTGAGAG
AAGGGAGGCCTTATTCCTCTCCTGCTGCTCCCCACCCCCTGCCCCACCCAACCCCTCCGCTGAGTGTTTTCTGTGAAGGGCTATCCAGAGTTAGGATGCCCTTGCCCAATTCCTTCCTGAGACCCAGA
AGGTAGGGTGGGAGGGCCCAAATGGGAAGGTGACCTAAGCAGAAAGTCTCCAGAAAGGTCATGTCCCCTGGCCCTGCCTTGGCAGAGGTCCCCAGTGACTTATGCTAGGAGGATTCCATCTGGGTAGA
CAGTCTGGCCACAAAATCAGCTACTGGACCTCAGCCATCTCTGCTGGAGGCTCTGAGGAGGAGTGAGCATCCCTCACTTGTGGGGGCTCTGTGAGGAAATGTGCCTTCCCCATTCCCCCGGAGTCCTA
GGTCTGGAGCTCCAGGGCTGGGAGAGGGTGAGGGAGATGGGCAGGGGTGTTTTCTCTGACCTTGGGGGCTTAGTCTCAGTCCTGCCTGAACTTTCCACTAGGCTTGGAACCCTTCCAAGAACCATATT
TCTCTCCTTCCCACCAATTTTCCCTTGATGAGGCTTTAGCAGTTTGCTCCCACCACCCCCAGCCCATTTCACAACTCTGATCTTAGTCCAAAGCAGGGGACACGCCCCCCCACCACCACTTTTTCTCT
CTCCCATCTCAGCCTCCTGTGCAGTTCCTTGCCTGCCCGTGCATTTCCTAGAGTCTACTGCCTCCCCCCTGGCTGGGAGGGTGTCTGGGGGGGATCTTTCAGGGGCCCTGGCACCCAGGGCCTGTGCT
GGCCTAGGAGTGCTGACCAGAAGGCTGCTCTGTTCCCCCCCACCCCCGTTGCTTTCTGGCCCCCTCTTTGGAGCCAGCCACCCACAGGGCTTTGGTGCCTCAGAAGCAGTGGGCTGCCGGGTCACAGC
CGCAGGCTGCAAAAGACCCTCGGAGGGAGCATGGAGTGAGGGGTTCTCTCTCAGGTGTGTATGTATTGGGGGGTGGGGGTGGGTGGAGGGTGTCAGGGAAGTTGGGGTGGGATCCCAGCCTTCCCTTC
AAGAGGCAGGGAGCTCTGGGAGGTGGAGTCCCCACCGCTTTCTCTACTAGGCTCCTCCTGTTCCCCAGGCTTGGGGAGCTTTGCACAAGGAGACTGCCCCCAGCCTAGTGGCACCTACCTCATGGGCT
CTGGGGCAGGTAGGGGAAGGGCCAGTCCAGCTCTGGTAATGCTGGGGGGAGGCATACCAAAGAATCCAGGGGCAGGGAGTGGGGAGGGTGACTTCCGAGCTGGCCTCTCCCCTTCCTCTACCCAGACT
GGGGCTGGGATCCTCTCCTCCCGCTGTAACCATTTCTACCTCATTTTGCTGCGTGTTGTACATGGACGTATTTATCTCCTGTCTGACGATGCTCTGCAGTTGTGGTCTGTCTACCTCAGAAGAGACTG
TATTTTAAAAGAAAGTATTACACAGTATTAAAGCGATGACATGTGGTTTGCA

hide sequence

RefSeq Acc Id:

XM_054372047 ⟹ XP_054228022

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	12	51,781,425 - 51,804,119 (-)	NCBI

RefSeq Acc Id:

XM_054372048 ⟹ XP_054228023

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	12	51,781,425 - 51,811,176 (-)	NCBI


Protein RefSeqs	NP_001013712	(Get FASTA)	NCBI Sequence Viewer
	NP_001371924	(Get FASTA)	NCBI Sequence Viewer
	NP_001371925	(Get FASTA)	NCBI Sequence Viewer
	XP_016874787	(Get FASTA)	NCBI Sequence Viewer
	XP_016874788	(Get FASTA)	NCBI Sequence Viewer
	XP_054228022	(Get FASTA)	NCBI Sequence Viewer
	XP_054228023	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	A6NMB9	(Get FASTA)	NCBI Sequence Viewer
	BAC85267	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000491257
	ENSP00000491257.1

RefSeq Acc Id:

NP_001013712 ⟸ NM_001013690

- UniProtKB:

A6NMB9 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MHWTPEHAQPLNQWPEQHLDVSSTTPSPAHKLELPPGGRQRCHYAWAHDDISALTASNLLKRYAEKYSGVLDSPYERPALGGYSDASFLNGAKGDPEPWPGPEPPYPLASLHEGLPGTKSGGGGGSGA
LGGSPVLAGNLPEPLYAGNACGGPSAAPEYAAGYGGGYLAPGYCAQTGAALPPPPPAALLQPPPPPGYGPSAPLYNYPAGGYAAQPGYGALPPPPGPPPAPYLTPGLPAPTPLPAPAPPTAYGFPTAA
PGAESGLSLKRKAADEGPEGRYRKYAYEPAKAPVADGASYPAADNGECRGNGFRAKPPGAAEEASGKYGGGVPLKVLGSPVYGPQLEPFEKFPERAPAPRGGFAVPSGETPKGVDPGALELVTSKMVD
CGPPVQWADVAGQGALKAALEEELVWPLLRPPAYPGSLRPPRTVLLFGPRGAGKALLGRCLATQLGATLLRLRGATLAAPGAAEGARLLQAAFAAARCRPPSVLLISELEALLPARDDGAAAGGALQV
PLLACLDGGCGAGADGVLVVGTTSRPAALDEATRRRFSLRFYVALPDSPARGQILQRALAQQGCALSERELAALVQGTQGFSGGELGQLCQQAAAGAGLPGLQRPLSYKDLEAALAKVGPRASAKELD
SFVEWDKMYGSGH

hide sequence

RefSeq Acc Id:

XP_016874788 ⟸ XM_017019299

- Peptide Label:

isoform X2

- Sequence:

show sequence

MFVLSARAVAAERSPAFRPAARSGDPVPAQLWAYGAGPSPRQRGAPDADPRGDRHWKDLTSPRS
QGHPKWTEDSPWRPPLSTCALPAVPITECTALLKMHWTPEHAQPLNQWPEQHLDVSSTTPSPAHKLELPPGGRQRCHYAWAHDDISALTASNLLKRYAEKYSGVLDSPYERPALGGYSDASFLNGAKG
DPEPWPGPEPPYPLASLHEGLPGTKSGGGGGSGALGGSPVLAGNLPEPLYAGNACGGPSAAPEYAAGYGGGYLAPGYCAQTGAALPPPPPAALLQPPPPPGYGPSAPLYNYPAGGYAAQPGYGALPPP
PGPPPAPYLTPGLPAPTPLPAPAPPTAYGFPTAAPGAESGLSLKRKAADEGPEGRYRKYAYEPAKAPVADGASYPAADNGECRGNGFRAKPPGAAEEASGKYGGGVPLKVLGSPVYGPQLEPFEKFPE
RAPAPRGGFAVPSGETPKGVDPGALELVTSKMVDCGPPVQWADVAGQGALKAALEEELVWPLLRPPAYPGSLRPPRTVLLFGPRGAGKALLGRCLATQLGATLLRLRGATLAAPGAAEGARLLQAAFA
AARCRPPSVLLISELEALLPARDDGAAAGGALQVPLLACLDGGCGAGADGVLVVGTTSRPAALDEATRRRFSLRFYVALPDSPARGQILQRALAQQGCALSERELAALVQGTQGFSGGELGQLCQQAA
AGAGLPGLQRPLSYKDLEAALAKVGPRASAKELDSFVEWDKMYGSGH

hide sequence

RefSeq Acc Id:

XP_016874787 ⟸ XM_017019298

- Peptide Label:

isoform X1

- Sequence:

show sequence

MLLIPFVAPCIFLLCIEEVFLRTGHRFSRLRKGPKAESGEELWPHPPSLAHAGPSPRQRGAPDA
DPRGDRHWKDLTSPRSQGHPKWTEDSPWRPPLSTCALPAVPITECTALLKMHWTPEHAQPLNQWPEQHLDVSSTTPSPAHKLELPPGGRQRCHYAWAHDDISALTASNLLKRYAEKYSGVLDSPYERP
ALGGYSDASFLNGAKGDPEPWPGPEPPYPLASLHEGLPGTKSGGGGGSGALGGSPVLAGNLPEPLYAGNACGGPSAAPEYAAGYGGGYLAPGYCAQTGAALPPPPPAALLQPPPPPGYGPSAPLYNYP
AGGYAAQPGYGALPPPPGPPPAPYLTPGLPAPTPLPAPAPPTAYGFPTAAPGAESGLSLKRKAADEGPEGRYRKYAYEPAKAPVADGASYPAADNGECRGNGFRAKPPGAAEEASGKYGGGVPLKVLG
SPVYGPQLEPFEKFPERAPAPRGGFAVPSGETPKGVDPGALELVTSKMVDCGPPVQWADVAGQGALKAALEEELVWPLLRPPAYPGSLRPPRTVLLFGPRGAGKALLGRCLATQLGATLLRLRGATLA
APGAAEGARLLQAAFAAARCRPPSVLLISELEALLPARDDGAAAGGALQVPLLACLDGGCGAGADGVLVVGTTSRPAALDEATRRRFSLRFYVALPDSPARGQILQRALAQQGCALSERELAALVQGT
QGFSGGELGQLCQQAAAGAGLPGLQRPLSYKDLEAALAKVGPRASAKELDSFVEWDKMYGSGH

hide sequence

Ensembl Acc Id:

ENSP00000491257 ⟸ ENST00000618634

Ensembl Acc Id:

ENSP00000491756 ⟸ ENST00000564840

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-A6NMB9-F1-model_v2	AlphaFold	A6NMB9	1-653	view protein structure

RGD ID:

6790000

Promoter ID:

HG_KWN:15670

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell

Transcripts:

ENST00000380052, ENST00000388936

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	12	50,502,271 - 50,502,771 (-)	MPROMDB

Database	Acc Id	Source(s)
COSMIC	FIGNL2	COSMIC
Ensembl Genes	ENSG00000261308	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000618634	ENTREZGENE
	ENST00000618634.3	UniProtKB/Swiss-Prot
Gene3D-CATH	1.10.8.60	UniProtKB/Swiss-Prot
	3.40.50.300	UniProtKB/Swiss-Prot
GTEx	ENSG00000261308	GTEx
HGNC ID	HGNC:13287	ENTREZGENE
Human Proteome Map	FIGNL2	Human Proteome Map
InterPro	AAA+_ATPase	UniProtKB/Swiss-Prot
	ATPase_AAA_core	UniProtKB/Swiss-Prot
	Fidgetin_ATPase	UniProtKB/Swiss-Prot
	MT-severing_AAA_ATPase	UniProtKB/Swiss-Prot
	P-loop_NTPase	UniProtKB/Swiss-Prot
KEGG Report	hsa:401720	UniProtKB/Swiss-Prot
NCBI Gene	401720	ENTREZGENE
OMIM	620503	OMIM
PANTHER	AAA DOMAIN-CONTAINING	UniProtKB/Swiss-Prot
	FIDGETIN-LIKE PROTEIN 2	UniProtKB/Swiss-Prot
Pfam	AAA	UniProtKB/Swiss-Prot
PharmGKB	PA162388579	PharmGKB
SMART	AAA	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF52540	UniProtKB/Swiss-Prot
UniProt	A6NMB9	ENTREZGENE, UniProtKB/Swiss-Prot
	Q6ZP58_HUMAN	UniProtKB/TrEMBL

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-02-10	FIGNL2	fidgetin like 2		fidgetin-like 2	Symbol and/or name change	5135510	APPROVED

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


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


Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
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MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable

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Imported Disease Annotations - ClinVar