ZFP69B (ZFP69 zinc finger protein B)

Gene: ZFP69B (ZFP69 zinc finger protein B) Homo sapiens

Analyze

Symbol:

ZFP69B

Name:

ZFP69 zinc finger protein B

RGD ID:

1350662

HGNC Page

HGNC:28053

Description:

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Involved in Golgi organization. Located in nucleolus.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

FLJ34293; novel zinc finger protein; RP11-656D10.1; zinc finger protein 643; zinc finger protein 69 homolog B; zinc finger protein ZFP69B; ZKSCAN23B; ZNF643; ZSCAN54B

RGD Orthologs

Alliance Genes

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	40,450,064 - 40,463,715 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	40,450,102 - 40,463,718 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	40,915,736 - 40,929,387 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	40,688,366 - 40,701,939 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	1	40,584,871 - 40,598,445	NCBI
Celera	1	39,198,705 - 39,211,763 (+)	NCBI		Celera
Cytogenetic Map	1	p34.2	NCBI
HuRef	1	39,034,689 - 39,047,658 (+)	NCBI		HuRef
CHM1_1	1	41,032,316 - 41,045,362 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	1	40,319,624 - 40,333,275 (+)	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

Charcot-Marie-Tooth disease dominant intermediate C (IAGP)

genetic disease (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

17beta-estradiol (EXP)

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

acrylamide (EXP)

aflatoxin B1 (EXP)

avobenzone (EXP)

benzo[a]pyrene (EXP)

bisphenol A (EXP)

CGP 52608 (EXP)

cisplatin (EXP)

copper(II) sulfate (EXP)

cyclosporin A (EXP)

dorsomorphin (EXP)

fonofos (EXP)

methylmercury chloride (EXP)

N-Nitrosopyrrolidine (EXP)

parathion (EXP)

phenylmercury acetate (EXP)

quercetin (EXP)

quinolin-8-ol (EXP)

resorcinol (EXP)

S-(1,2-dichlorovinyl)-L-cysteine (EXP)

SB 431542 (EXP)

silicon dioxide (EXP)

sunitinib (EXP)

terbufos (EXP)

trichostatin A (EXP)

urethane (EXP)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

Golgi organization (IMP)

regulation of DNA-templated transcription (IEA)

regulation of transcription by RNA polymerase II (IBA)

Cellular Component

nucleolus (IDA)

nucleus (IBA,IDA,IEA)

Molecular Function

DNA binding (IEA)

DNA-binding transcription factor activity, RNA polymerase II-specific (IBA)

metal ion binding (IEA)

protein binding (IPI)

RNA polymerase II transcription regulatory region sequence-specific DNA binding (IBA)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
3.	Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.	Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.

Additional References at PubMed

PMID:14702039	PMID:15146197	PMID:15489334	PMID:21873635	PMID:25416956	PMID:25963833	PMID:29851555	PMID:30021884	PMID:32296183	PMID:33961781	PMID:35944360	PMID:38003570

Genomics

Comparative Map Data

ZFP69B
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	40,450,064 - 40,463,715 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	40,450,102 - 40,463,718 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	40,915,736 - 40,929,387 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	40,688,366 - 40,701,939 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	1	40,584,871 - 40,598,445	NCBI
Celera	1	39,198,705 - 39,211,763 (+)	NCBI		Celera
Cytogenetic Map	1	p34.2	NCBI
HuRef	1	39,034,689 - 39,047,658 (+)	NCBI		HuRef
CHM1_1	1	41,032,316 - 41,045,362 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	1	40,319,624 - 40,333,275 (+)	NCBI		T2T-CHM13v2.0

ZFP69B
(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	1	186,352,604 - 186,385,530 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	1	185,493,464 - 185,526,354 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	1	39,736,604 - 39,750,288 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	1	41,059,175 - 41,072,659 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	1	41,059,175 - 41,072,659 (+)	Ensembl	panpan1.1		panPan2

ZFP69B
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	15	2,535,969 - 2,547,614 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	15	2,512,402 - 2,547,699 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	15	2,793,971 - 2,806,287 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	15	2,625,023 - 2,637,263 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	15	2,599,668 - 2,637,689 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	15	2,530,550 - 2,542,805 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	15	2,590,513 - 2,602,802 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	15	2,606,798 - 2,619,037 (-)	NCBI		UU_Cfam_GSD_1.0

Zfp69b
(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_024405058	56,372,772 - 56,385,670 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936474	22,198,418 - 22,210,023 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936474	22,198,176 - 22,210,448 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

ZNF643
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	6	170,660,884 - 170,701,255 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	6	170,660,307 - 170,701,755 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	6	157,618,935 - 157,659,904 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

ZFP69B
(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	20	92,461,494 - 92,474,433 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	20	92,461,514 - 92,474,941 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666033	24,404,516 - 24,418,342 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Variants

Variants in ZFP69B
22 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 1p34.3-34.2(chr1:39360747-40900817)x3	copy number gain	See cases [RCV000051815]	Chr1:39360747..40900817 [GRCh38] Chr1:39826419..41366489 [GRCh37] Chr1:39599006..41139076 [NCBI36] Chr1:1p34.3-34.2	pathogenic
GRCh38/hg38 1p34.3-33(chr1:39479787-47688131)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051817]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051817]\|See cases [RCV000051817]	Chr1:39479787..47688131 [GRCh38] Chr1:39945459..48153803 [GRCh37] Chr1:39718046..47926390 [NCBI36] Chr1:1p34.3-33	pathogenic
GRCh38/hg38 1p34.3-34.1(chr1:38222737-45636176)x3	copy number gain	See cases [RCV000051803]	Chr1:38222737..45636176 [GRCh38] Chr1:38688409..46101848 [GRCh37] Chr1:38460996..45874435 [NCBI36] Chr1:1p34.3-34.1	pathogenic
GRCh38/hg38 1p34.3-34.2(chr1:38108665-42327551)x1	copy number loss	See cases [RCV000053805]	Chr1:38108665..42327551 [GRCh38] Chr1:38574337..42793222 [GRCh37] Chr1:38346924..42565809 [NCBI36] Chr1:1p34.3-34.2	pathogenic
GRCh38/hg38 1p34.2-34.1(chr1:40462415-44668040)x1	copy number loss	See cases [RCV000053837]	Chr1:40462415..44668040 [GRCh38] Chr1:40928087..45133712 [GRCh37] Chr1:40700674..44906299 [NCBI36] Chr1:1p34.2-34.1	pathogenic
GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	copy number gain	See cases [RCV000138891]	Chr1:24381206..41401517 [GRCh38] Chr1:24707696..41886350 [GRCh37] Chr1:24580283..41658937 [NCBI36] Chr1:1p36.11-34.2	pathogenic
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3	copy number loss	not provided [RCV000762767]	Chr1:20608823..120546301 [GRCh37] Chr1:1p36.12-12	likely benign
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	copy number gain	See cases [RCV000510383]	Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	copy number gain	See cases [RCV000510926]	Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44	pathogenic
NM_023070.3(ZFP69B):c.542G>A (p.Ser181Asn)	single nucleotide variant	Inborn genetic diseases [RCV003276655]	Chr1:40462526 [GRCh38] Chr1:40928198 [GRCh37] Chr1:1p34.2	uncertain significance
NC_000001.10:g.(?_33241563)_(46663513_?)dup	duplication	Charcot-Marie-Tooth disease dominant intermediate C [RCV000708276]	Chr1:33241563..46663513 [GRCh37] Chr1:1p35.1-34.1	uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3	copy number gain	not provided [RCV000736295]	Chr1:47851..249228449 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3	copy number gain	not provided [RCV000736305]	Chr1:82154..249218992 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	copy number gain	Global developmental delay [RCV000787285]	Chr1:103343285..103455144 [GRCh37] Chr1:1p36.22-21.1	uncertain significance
NM_023070.3(ZFP69B):c.359C>T (p.Pro120Leu)	single nucleotide variant	Inborn genetic diseases [RCV003272216]	Chr1:40457362 [GRCh38] Chr1:40923034 [GRCh37] Chr1:1p34.2	uncertain significance
NM_023070.3(ZFP69B):c.967A>G (p.Ile323Val)	single nucleotide variant	Inborn genetic diseases [RCV003272217]	Chr1:40462951 [GRCh38] Chr1:40928623 [GRCh37] Chr1:1p34.2	uncertain significance
NM_023070.3(ZFP69B):c.59G>A (p.Arg20His)	single nucleotide variant	Inborn genetic diseases [RCV003250112]	Chr1:40451020 [GRCh38] Chr1:40916692 [GRCh37] Chr1:1p34.2	likely benign
NM_023070.3(ZFP69B):c.1162G>A (p.Glu388Lys)	single nucleotide variant	Inborn genetic diseases [RCV003252711]	Chr1:40463146 [GRCh38] Chr1:40928818 [GRCh37] Chr1:1p34.2	uncertain significance
NM_023070.3(ZFP69B):c.896G>A (p.Arg299Lys)	single nucleotide variant	not provided [RCV000953133]	Chr1:40462880 [GRCh38] Chr1:40928552 [GRCh37] Chr1:1p34.2	likely benign
NC_000001.10:g.(?_33241563)_(46663513_?)dup	duplication	Charcot-Marie-Tooth disease, dominant intermediate C [RCV001308684]	Chr1:33241563..46663513 [GRCh37] Chr1:1p35.1-34.1	uncertain significance
GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	copy number gain	not specified [RCV002052781]	Chr1:33285582..47891811 [GRCh37] Chr1:1p35.1-33	pathogenic
GRCh37/hg19 1p34.3-34.2(chr1:38679545-42556292)	copy number loss	not specified [RCV002053269]	Chr1:38679545..42556292 [GRCh37] Chr1:1p34.3-34.2	likely pathogenic
GRCh37/hg19 1p34.2(chr1:40758393-41009559)x1	copy number loss	not provided [RCV002472835]	Chr1:40758393..41009559 [GRCh37] Chr1:1p34.2	uncertain significance
NM_023070.3(ZFP69B):c.1529A>T (p.Lys510Ile)	single nucleotide variant	Inborn genetic diseases [RCV002992344]	Chr1:40463513 [GRCh38] Chr1:40929185 [GRCh37] Chr1:1p34.2	uncertain significance
NM_023070.3(ZFP69B):c.608G>T (p.Arg203Ile)	single nucleotide variant	Inborn genetic diseases [RCV002968240]	Chr1:40462592 [GRCh38] Chr1:40928264 [GRCh37] Chr1:1p34.2	uncertain significance
NM_023070.3(ZFP69B):c.1093T>G (p.Cys365Gly)	single nucleotide variant	Inborn genetic diseases [RCV002901855]	Chr1:40463077 [GRCh38] Chr1:40928749 [GRCh37] Chr1:1p34.2	uncertain significance
NM_023070.3(ZFP69B):c.980G>T (p.Arg327Ile)	single nucleotide variant	Inborn genetic diseases [RCV002926360]	Chr1:40462964 [GRCh38] Chr1:40928636 [GRCh37] Chr1:1p34.2	uncertain significance
NM_023070.3(ZFP69B):c.1256A>G (p.Tyr419Cys)	single nucleotide variant	Inborn genetic diseases [RCV002659979]	Chr1:40463240 [GRCh38] Chr1:40928912 [GRCh37] Chr1:1p34.2	uncertain significance
NM_023070.3(ZFP69B):c.884C>T (p.Thr295Ile)	single nucleotide variant	Inborn genetic diseases [RCV002797767]	Chr1:40462868 [GRCh38] Chr1:40928540 [GRCh37] Chr1:1p34.2	uncertain significance
NM_023070.3(ZFP69B):c.636G>A (p.Met212Ile)	single nucleotide variant	Inborn genetic diseases [RCV002784127]	Chr1:40462620 [GRCh38] Chr1:40928292 [GRCh37] Chr1:1p34.2	likely benign
NM_023070.3(ZFP69B):c.1225C>T (p.His409Tyr)	single nucleotide variant	Inborn genetic diseases [RCV002831841]	Chr1:40463209 [GRCh38] Chr1:40928881 [GRCh37] Chr1:1p34.2	uncertain significance
NM_023070.3(ZFP69B):c.494A>G (p.Glu165Gly)	single nucleotide variant	Inborn genetic diseases [RCV002963941]	Chr1:40462478 [GRCh38] Chr1:40928150 [GRCh37] Chr1:1p34.2	uncertain significance
NM_023070.3(ZFP69B):c.364G>A (p.Val122Met)	single nucleotide variant	Inborn genetic diseases [RCV002678284]	Chr1:40457367 [GRCh38] Chr1:40923039 [GRCh37] Chr1:1p34.2	uncertain significance
NM_023070.3(ZFP69B):c.1316G>A (p.Arg439Lys)	single nucleotide variant	Inborn genetic diseases [RCV003199042]	Chr1:40463300 [GRCh38] Chr1:40928972 [GRCh37] Chr1:1p34.2	uncertain significance
NM_023070.3(ZFP69B):c.1574A>C (p.His525Pro)	single nucleotide variant	Inborn genetic diseases [RCV003259866]	Chr1:40463558 [GRCh38] Chr1:40929230 [GRCh37] Chr1:1p34.2	uncertain significance
NM_023070.3(ZFP69B):c.299G>A (p.Arg100Gln)	single nucleotide variant	Inborn genetic diseases [RCV003208510]	Chr1:40457030 [GRCh38] Chr1:40922702 [GRCh37] Chr1:1p34.2	uncertain significance
NM_023070.3(ZFP69B):c.928A>G (p.Lys310Glu)	single nucleotide variant	Inborn genetic diseases [RCV003380999]	Chr1:40462912 [GRCh38] Chr1:40928584 [GRCh37] Chr1:1p34.2	uncertain significance
NM_023070.3(ZFP69B):c.275C>A (p.Ala92Asp)	single nucleotide variant	Inborn genetic diseases [RCV003385025]	Chr1:40457006 [GRCh38] Chr1:40922678 [GRCh37] Chr1:1p34.2	uncertain significance
Single allele	inversion	Bilateral polymicrogyria [RCV003459046]	Chr1:33246132..61045156 [GRCh38] Chr1:1p35.1-31.3	likely pathogenic
GRCh37/hg19 1p34.2(chr1:40688246-42630383)x1	copy number loss	not provided [RCV003885447]	Chr1:40688246..42630383 [GRCh37] Chr1:1p34.2	uncertain significance
NM_023070.3(ZFP69B):c.341-8A>G	single nucleotide variant	not provided [RCV003886094]	Chr1:40457336 [GRCh38] Chr1:40923008 [GRCh37] Chr1:1p34.2	likely benign
NM_023070.3(ZFP69B):c.518T>C (p.Met173Thr)	single nucleotide variant	Inborn genetic diseases [RCV003345453]	Chr1:40462502 [GRCh38] Chr1:40928174 [GRCh37] Chr1:1p34.2	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	633
Count of miRNA genes:	385
Interacting mature miRNAs:	407
Transcripts:	ENST00000361584, ENST00000411995, ENST00000469416, ENST00000484445
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.

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

pharyngeal arch

High

Medium

148

104

Low

1479

1652

1246

356

1351

214

2401

526

3275

292

1315

1312

154

845

1411

Below cutoff

940

1329

466

260

495

243

1780

1605

387

111

194

359

1350

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001369565	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_023070	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_005271136	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_005271138	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_005271139	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017002147	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054338413	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054338414	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AK091612	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK094134	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL031985	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL137241	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC017498	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471059	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CN256362	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068277	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000361584 ⟹ ENSP00000354547

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	40,450,476 - 40,463,715 (+)	Ensembl

RefSeq Acc Id:

ENST00000411995 ⟹ ENSP00000399664

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	40,450,107 - 40,463,718 (+)	Ensembl

RefSeq Acc Id:

ENST00000469416

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	40,450,102 - 40,463,714 (+)	Ensembl

RefSeq Acc Id:

ENST00000484445 ⟹ ENSP00000435907

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	40,450,107 - 40,463,680 (+)	Ensembl

RefSeq Acc Id:

NM_001369565 ⟹ NP_001356494

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	40,450,064 - 40,463,715 (+)	NCBI
T2T-CHM13v2.0	1	40,319,624 - 40,333,275 (+)	NCBI

Sequence:

show sequence

GCACTGGGCCCCGACTGCCCGCCGCAGCGCTACGTGGGAGCTTGGCCGCGCAGTGCCGGAACCC
GGCTGCAGCGGTGGGAAGGCGGGGGCGTGCCGGCCCAGCGGGGAGAGGCATCTGCAGGGGCTGC
TGAGAGTAAATACTTGGCGCCTCCAGCTGCTGGCCAAGGAGACAGATGGAGCTCAAGTTGGGAG
ATACGCCCTGAGAGCCGATGATAGACACAAGTCCAGATCTCGGATTTTGATACTGTATGTTCCC
TGGGTTCCTGAGAGAGGACATTGAGGAGTAGGAGTCGGCGATTAAGGAGATCGGTACAATTGGG
AAGCCTCCTGTCAGAGCTTCCAGCAATTTCCTCATCAGAGGTGGACAAGCCCTATGGGCTAAGA
CAGAGGGTCCTCAGAAAGGAGTGCGGACGCCGTCATGCTGCAGCAGCTCCTGATCACCCTGCCC
ACCGAGGCCAGCACCTGGGTGAAGTTGCGTCATCCAAAGGCGGCCACGGAGCGGGTGGCCCTGT
GGGAGGATGTGACTAAGATGTTTAAAGCAGAAGCTCTGCTGTCTCAGGATGCTGATGAGACCCA
GGGCGAAAGTTTAGAGAGTAGAGTGACCCTTGGATCCCTGACAGCAGAATCCCAGGAACTGTTA
ACCTTCAAGGACGTATCTGTGGACTTCACTCAGGAGGAGTGGGGGCAGCTGGCCCCTGCTCACC
GGAATCTGTACCGGGAGGTGATGCTGGAGAACTATGGGAACCTGGTCTCAGTGGGATGTCAGCT
TTCCAAACCTGGCGTGATTTCCCAGTTGGAGAAAGGAGAAGAACCATGGCTGATGGAGAGAGAT
ATTTCAGGAGTTCCAAGTTCAGACTTGAAGAGCAAAACAAAAACCAAAGAGTCAGCCTTACAGA
ATGATATTTCGTGGGAAGAACTACATTGTGGCCTAATGATGGAAAGATTTACAAAAGGAAGCAG
CATGTATTCCACCTTGGGAAGAATCTCCAAATGTAATAAGCTAGAAAGCCAACAAGAGAACCAA
AGAATGGGTAAGGGGCAAATCCCCCTGATGTGCAAGAAAACATTCACTCAGGAGAGAGGCCAAG
AGTCTAATAGATTTGAGAAAAGAATTAATGTGAAGTCAGAAGTTATGCCAGGACCAATAGGTCT
TCCAAGAAAAAGAGATCGTAAATATGACACACCTGGAAAGAGAAGCAGATACAACATAGATTTA
GTTAATCATTCAAGGAGTTATACAAAAATGAAAACCTTTGAGTGTAATATTTGTGAAAAAATCT
TCAAACAGCTTATTCACCTTACTGAACACATGAGAATTCATACCGGGGAGAAACCTTTCAGATG
TAAGGAATGTGGAAAAGCCTTTAGCCAAAGTTCATCTCTTATTCCGCATCAGAGAATTCATACT
GGTGAGAAACCCTATGAATGTAAGGAGTGTGGGAAAACCTTCAGACATCCTTCATCGCTTACTC
AACATGTTAGAATTCATACCGGGGAAAAGCCCTATGAATGTAGGGTATGTGAGAAAGCCTTCAG
CCAGAGCATTGGACTGATCCAGCATTTGAGAACTCATGTTAGAGAGAAACCTTTTACATGCAAA
GACTGTGGAAAAGCGTTTTTCCAGATTAGACACCTTAGGCAACATGAGATTATTCATACTGGTG
TGAAACCCTATATTTGTAATGTATGTAGTAAAACCTTCAGCCATAGTACATACCTAACTCAACA
CCAGAGAACTCATACTGGAGAAAGACCATATAAATGTAAGGAATGTGGGAAAGCCTTTAGCCAG
AGAATACATCTTTCTATCCATCAGAGAGTCCATACTGGAGTAAAACCTTATGAATGCAGTCATT
GTGGGAAAGCCTTTAGGCATGATTCATCCTTTGCTAAACATCAGAGAATTCATACTGGAGAAAA
ACCTTATGATTGTAATGAGTGTGGAAAAGCCTTCAGCTGTAGTTCATCCCTTATTAGACACTGC
AAAACACATTTAAGAAATACCTTCAGCAATGTTGTGTGAAATATACTAAACATCAAAGAATCTA
TGTTGGAGCACAAGATTCTAAATCAGTGGTTCCCTGATCCCTCAAAAATCCATTTGTTTTTGGA
TTTCCAAAAACGAACATTAAAAAAAAATGGTTTGGCA

hide sequence

RefSeq Acc Id:

NM_023070 ⟹ NP_075558

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	40,450,476 - 40,463,715 (+)	NCBI
GRCh37	1	40,915,774 - 40,929,390 (+)	NCBI
Build 36	1	40,688,366 - 40,701,939 (+)	NCBI Archive
Celera	1	39,198,705 - 39,211,763 (+)	RGD
HuRef	1	39,034,689 - 39,047,658 (+)	ENTREZGENE
CHM1_1	1	41,032,316 - 41,045,362 (+)	NCBI
T2T-CHM13v2.0	1	40,320,036 - 40,333,275 (+)	NCBI

Sequence:

show sequence

GTATTCGTCTCTTTGTGCTTCCTGACATGTGCGCGGTGCTTTGAATTTTGTGGGCTGTGTCTGC
CCACCGTCTCCGTGTATCTTTTGGAAACATTTTACAGTGATCCATATATGTTCTAGCGTTCTGC
CCTATGACTGAGCCTCCTTAGTCCTTTGCTGATTCTAATGTCTTCTGCTCAGCATCTGCAGGGG
CTGCTGAGAGTAAATACTTGGCGCCTCCAGCTGCTGGCCAAGGAGACAGATGGAGCTCAAGTTG
GGAGATACGCCCTGAGAGCCGATGATAGACACAAGTCCAGATCTCGGATTTTGATACTGTATGT
TCCCTGGGTTCCTGAGAGAGGACATTGAGGAGTAGGAGTCGGCGATTAAGGAGATCGGTACAAT
TGGGAAGCCTCCTGTCAGAGCTTCCAGCAATTTCCTCATCAGAGGTGGACAAGCCCTATGGGCT
AAGACAGAGGGTCCTCAGAAAGGAGTGCGGACGCCGTCATGCTGCAGCAGCTCCTGATCACCCT
GCCCACCGAGGCCAGCACCTGGGTGAAGTTGCGTCATCCAAAGGCGGCCACGGAGCGGGTGGCC
CTGTGGGAGGATGTGACTAAGATGTTTAAAGCAGAAGCTCTGCTGTCTCAGGATGCTGATGAGA
CCCAGGGCGAAAGTTTAGAGAGTAGAGTGACCCTTGGATCCCTGACAGCAGAATCCCAGGAACT
GTTAACCTTCAAGGACGTATCTGTGGACTTCACTCAGGAGGAGTGGGGGCAGCTGGCCCCTGCT
CACCGGAATCTGTACCGGGAGGTGATGCTGGAGAACTATGGGAACCTGGTCTCAGTGGGATGTC
AGCTTTCCAAACCTGGCGTGATTTCCCAGTTGGAGAAAGGAGAAGAACCATGGCTGATGGAGAG
AGATATTTCAGGAGTTCCAAGTTCAGACTTGAAGAGCAAAACAAAAACCAAAGAGTCAGCCTTA
CAGAATGATATTTCGTGGGAAGAACTACATTGTGGCCTAATGATGGAAAGATTTACAAAAGGAA
GCAGCATGTATTCCACCTTGGGAAGAATCTCCAAATGTAATAAGCTAGAAAGCCAACAAGAGAA
CCAAAGAATGGGTAAGGGGCAAATCCCCCTGATGTGCAAGAAAACATTCACTCAGGAGAGAGGC
CAAGAGTCTAATAGATTTGAGAAAAGAATTAATGTGAAGTCAGAAGTTATGCCAGGACCAATAG
GTCTTCCAAGAAAAAGAGATCGTAAATATGACACACCTGGAAAGAGAAGCAGATACAACATAGA
TTTAGTTAATCATTCAAGGAGTTATACAAAAATGAAAACCTTTGAGTGTAATATTTGTGAAAAA
ATCTTCAAACAGCTTATTCACCTTACTGAACACATGAGAATTCATACCGGGGAGAAACCTTTCA
GATGTAAGGAATGTGGAAAAGCCTTTAGCCAAAGTTCATCTCTTATTCCGCATCAGAGAATTCA
TACTGGTGAGAAACCCTATGAATGTAAGGAGTGTGGGAAAACCTTCAGACATCCTTCATCGCTT
ACTCAACATGTTAGAATTCATACCGGGGAAAAGCCCTATGAATGTAGGGTATGTGAGAAAGCCT
TCAGCCAGAGCATTGGACTGATCCAGCATTTGAGAACTCATGTTAGAGAGAAACCTTTTACATG
CAAAGACTGTGGAAAAGCGTTTTTCCAGATTAGACACCTTAGGCAACATGAGATTATTCATACT
GGTGTGAAACCCTATATTTGTAATGTATGTAGTAAAACCTTCAGCCATAGTACATACCTAACTC
AACACCAGAGAACTCATACTGGAGAAAGACCATATAAATGTAAGGAATGTGGGAAAGCCTTTAG
CCAGAGAATACATCTTTCTATCCATCAGAGAGTCCATACTGGAGTAAAACCTTATGAATGCAGT
CATTGTGGGAAAGCCTTTAGGCATGATTCATCCTTTGCTAAACATCAGAGAATTCATACTGGAG
AAAAACCTTATGATTGTAATGAGTGTGGAAAAGCCTTCAGCTGTAGTTCATCCCTTATTAGACA
CTGCAAAACACATTTAAGAAATACCTTCAGCAATGTTGTGTGAAATATACTAAACATCAAAGAA
TCTATGTTGGAGCACAAGATTCTAAATCAGTGGTTCCCTGATCCCTCAAAAATCCATTTGTTTT
TGGATTTCCAAAAACGAACATTAAAAAAAAATGGTTTGGCA

hide sequence

RefSeq Acc Id:

XM_005271136 ⟹ XP_005271193

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	40,450,064 - 40,463,715 (+)	NCBI
GRCh37	1	40,915,774 - 40,929,390 (+)	NCBI

Sequence:

show sequence

AGCTTGGCCGCGCAGTGCCGGAACCCGGCTGCAGCGGTGGGAAGGCGGGGGCGTGCCGGCCCAG
CGGGGAGAGGCATCTGCAGGGGCTGCTGAGAGTAAATACTTGGCGCCTCCAGCTGCTGGCCAAG
GAGACAGATGGAGCTCAAGTTGGGAGATACGCCCTGAGAGCCGATGATAGACACAAGTCCAGAT
CTCGGATTTTGATACTGTATGTTCCCTGGGTTCCTGAGAGAGGACATTGAGGAGTAGGAGTCGG
CGATTAAGGAGATCGGTACAATTGGGAAGCCTCCTGTCAGAGCTTCCAGCAATTTCCTCATCAG
AGGTGGACAAGCCCTATGGGCTAAGACAGAGGGTCCTCAGAAAGGAGTGCGGACGCCGTCATGC
TGCAGCAGCTCCTGATCACCCTGCCCACCGAGGCCAGCACCTGGGTGAAGTTGCGTCATCCAAA
GGCGGCCACGGAGCGGGTGGCCCTGTGGGAGGATGTGACTAAGATGTTTAAAGCAGAAGCTCTG
CTGTCTCAGGATGCTGATGAGACCCAGGGCGAAAGTTTAGAGAGTAGAGTGACCCTTGGATCCC
TGACAGCAGAATCCCAGGAACTGTTAACCTTCAAGGACGTATCTGTGGACTTCACTCAGGAGGA
GTGGGGGCAGCTGGCCCCTGCTCACCGGAATCTGTACCGGGAGGTGATGCTGGAGAACTATGGG
AACCTGGTCTCAGTGGCAGGATGTCAGCTTTCCAAACCTGGCGTGATTTCCCAGTTGGAGAAAG
GAGAAGAACCATGGCTGATGGAGAGAGATATTTCAGGAGTTCCAAGTTCAGACTTGAAGAGCAA
AACAAAAACCAAAGAGTCAGCCTTACAGAATGATATTTCGTGGGAAGAACTACATTGTGGCCTA
ATGATGGAAAGATTTACAAAAGGAAGCAGCATGTATTCCACCTTGGGAAGAATCTCCAAATGTA
ATAAGCTAGAAAGCCAACAAGAGAACCAAAGAATGGGTAAGGGGCAAATCCCCCTGATGTGCAA
GAAAACATTCACTCAGGAGAGAGGCCAAGAGTCTAATAGATTTGAGAAAAGAATTAATGTGAAG
TCAGAAGTTATGCCAGGACCAATAGGTCTTCCAAGAAAAAGAGATCGTAAATATGACACACCTG
GAAAGAGAAGCAGATACAACATAGATTTAGTTAATCATTCAAGGAGTTATACAAAAATGAAAAC
CTTTGAGTGTAATATTTGTGAAAAAATCTTCAAACAGCTTATTCACCTTACTGAACACATGAGA
ATTCATACCGGGGAGAAACCTTTCAGATGTAAGGAATGTGGAAAAGCCTTTAGCCAAAGTTCAT
CTCTTATTCCGCATCAGAGAATTCATACTGGTGAGAAACCCTATGAATGTAAGGAGTGTGGGAA
AACCTTCAGACATCCTTCATCGCTTACTCAACATGTTAGAATTCATACCGGGGAAAAGCCCTAT
GAATGTAGGGTATGTGAGAAAGCCTTCAGCCAGAGCATTGGACTGATCCAGCATTTGAGAACTC
ATGTTAGAGAGAAACCTTTTACATGCAAAGACTGTGGAAAAGCGTTTTTCCAGATTAGACACCT
TAGGCAACATGAGATTATTCATACTGGTGTGAAACCCTATATTTGTAATGTATGTAGTAAAACC
TTCAGCCATAGTACATACCTAACTCAACACCAGAGAACTCATACTGGAGAAAGACCATATAAAT
GTAAGGAATGTGGGAAAGCCTTTAGCCAGAGAATACATCTTTCTATCCATCAGAGAGTCCATAC
TGGAGTAAAACCTTATGAATGCAGTCATTGTGGGAAAGCCTTTAGGCATGATTCATCCTTTGCT
AAACATCAGAGAATTCATACTGGAGAAAAACCTTATGATTGTAATGAGTGTGGAAAAGCCTTCA
GCTGTAGTTCATCCCTTATTAGACACTGCAAAACACATTTAAGAAATACCTTCAGCAATGTTGT
GTGAAATATACTAAACATCAAAGAATCTATGTTGGAGCACAAGATTCTAAATCAGTGGTTCCCT
GATCCCTCAAAAATCCATTTGTTTTTGGATTTCCAAAAACGAACATTAAAAAAAAATGGTTTGG
CA

hide sequence

RefSeq Acc Id:

XM_017002147 ⟹ XP_016857636

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	40,450,064 - 40,463,715 (+)	NCBI

Sequence:

show sequence

CAGTGCCGGAACCCGGCTGCAGCGCATCTGCAGGGGCTGCTGAGAGTAAATACTTGGCGCCTCC
AGCTGCTGGCCAAGGAGACAGATGGAGCTCAAGTTGGGAGATACGCCCTGAGAGCCGATGATAG
ACACAAGTCCAGATCTCGGATTTTGATACTGTATGTTCCCTGGGTTCCTGAGAGAGGACATTGA
GGAGTAGGAGTCGGCGATTAAGGAGATCGGTACAATTGGGAAGCCTCCTGTCAGAGCTTCCAGC
AATTTCCTCATCAGAGGTGGACAAGCCCTATGGGCTAAGACAGAGGGTCCTCAGAAAGGAGTGC
GGACGCCGTCATGCTGCAGCAGCTCCTGATCACCCTGCCCACCGAGGCCAGCACCTGGGTGAAG
TTGCGTCATCCAAAGGCGGCCACGGAGCGGGTGGCCCTGTGGGAGGATGTGACTAAGATGTTTA
AAGCAGAAGCTCTGCTGTCTCAGGATGCTGATGAGACCCAGGGCGAAAGTTTAGAGAGTAGAGT
GACCCTTGGATCCCTGACAGCAGAATCCCAGGAACTGTTAACCTTCAAGGACGTATCTGTGGAC
TTCACTCAGGAGGAGTGGGGGCAGCTGGCCCCTGCTCACCGGAATCTGTACCGGGAGGTGATGC
TGGAGAACTATGGGAACCTGGTCTCAGTGGCAGGATGTCAGCTTTCCAAACCTGGCGTGATTTC
CCAGTTGGAGAAAGGAGAAGAACCATGGCTGATGGAGAGAGATATTTCAGGAGTTCCAAGTTCA
GACTTGAAGAGCAAAACAAAAACCAAAGAGTCAGCCTTACAGAATGATATTTCGTGGGAAGAAC
TACATTGTGGCCTAATGATGGAAAGATTTACAAAAGGAAGCAGCATGTATTCCACCTTGGGAAG
AATCTCCAAATGTAATAAGCTAGAAAGCCAACAAGAGAACCAAAGAATGGGTAAGGGGCAAATC
CCCCTGATGTGCAAGAAAACATTCACTCAGGAGAGAGGCCAAGAGTCTAATAGATTTGAGAAAA
GAATTAATGTGAAGTCAGAAGTTATGCCAGGACCAATAGGTCTTCCAAGAAAAAGAGATCGTAA
ATATGACACACCTGGAAAGAGAAGCAGATACAACATAGATTTAGTTAATCATTCAAGGAGTTAT
ACAAAAATGAAAACCTTTGAGTGTAATATTTGTGAAAAAATCTTCAAACAGCTTATTCACCTTA
CTGAACACATGAGAATTCATACCGGGGAGAAACCTTTCAGATGTAAGGAATGTGGAAAAGCCTT
TAGCCAAAGTTCATCTCTTATTCCGCATCAGAGAATTCATACTGGTGAGAAACCCTATGAATGT
AAGGAGTGTGGGAAAACCTTCAGACATCCTTCATCGCTTACTCAACATGTTAGAATTCATACCG
GGGAAAAGCCCTATGAATGTAGGGTATGTGAGAAAGCCTTCAGCCAGAGCATTGGACTGATCCA
GCATTTGAGAACTCATGTTAGAGAGAAACCTTTTACATGCAAAGACTGTGGAAAAGCGTTTTTC
CAGATTAGACACCTTAGGCAACATGAGATTATTCATACTGGTGTGAAACCCTATATTTGTAATG
TATGTAGTAAAACCTTCAGCCATAGTACATACCTAACTCAACACCAGAGAACTCATACTGGAGA
AAGACCATATAAATGTAAGGAATGTGGGAAAGCCTTTAGCCAGAGAATACATCTTTCTATCCAT
CAGAGAGTCCATACTGGAGTAAAACCTTATGAATGCAGTCATTGTGGGAAAGCCTTTAGGCATG
ATTCATCCTTTGCTAAACATCAGAGAATTCATACTGGAGAAAAACCTTATGATTGTAATGAGTG
TGGAAAAGCCTTCAGCTGTAGTTCATCCCTTATTAGACACTGCAAAACACATTTAAGAAATACC
TTCAGCAATGTTGTGTGAAATATACTAAACATCAAAGAATCTATGTTGGAGCACAAGATTCTAA
ATCAGTGGTTCCCTGATCCCTCAAAAATCCATTTGTTTTTGGATTTCCAAAAACGAACATTAAA
AAAAAATGGTTTGGCA

hide sequence

RefSeq Acc Id:

XM_054338413 ⟹ XP_054194388

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	1	40,319,624 - 40,333,275 (+)	NCBI

RefSeq Acc Id:

XM_054338414 ⟹ XP_054194389

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	1	40,319,624 - 40,333,275 (+)	NCBI

Protein Sequences


Protein RefSeqs	NP_001356494	(Get FASTA)	NCBI Sequence Viewer
	NP_075558	(Get FASTA)	NCBI Sequence Viewer
	XP_005271193	(Get FASTA)	NCBI Sequence Viewer
	XP_016857636	(Get FASTA)	NCBI Sequence Viewer
	XP_054194388	(Get FASTA)	NCBI Sequence Viewer
	XP_054194389	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH17498	(Get FASTA)	NCBI Sequence Viewer
	BAG52392	(Get FASTA)	NCBI Sequence Viewer
	CAB70626	(Get FASTA)	NCBI Sequence Viewer
	EAX07216	(Get FASTA)	NCBI Sequence Viewer
	EAX07217	(Get FASTA)	NCBI Sequence Viewer
	EAX07218	(Get FASTA)	NCBI Sequence Viewer
	EAX07219	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000354547
	ENSP00000354547.4
	ENSP00000399664
	ENSP00000399664.2
	ENSP00000435907.1
GenBank Protein	Q9UJL9	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_075558 ⟸ NM_023070

- UniProtKB:

Q5QPL4 (UniProtKB/Swiss-Prot), Q9UJL9 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MLQQLLITLPTEASTWVKLRHPKAATERVALWEDVTKMFKAEALLSQDADETQGESLESRVTLG
SLTAESQELLTFKDVSVDFTQEEWGQLAPAHRNLYREVMLENYGNLVSVGCQLSKPGVISQLEK
GEEPWLMERDISGVPSSDLKSKTKTKESALQNDISWEELHCGLMMERFTKGSSMYSTLGRISKC
NKLESQQENQRMGKGQIPLMCKKTFTQERGQESNRFEKRINVKSEVMPGPIGLPRKRDRKYDTP
GKRSRYNIDLVNHSRSYTKMKTFECNICEKIFKQLIHLTEHMRIHTGEKPFRCKECGKAFSQSS
SLIPHQRIHTGEKPYECKECGKTFRHPSSLTQHVRIHTGEKPYECRVCEKAFSQSIGLIQHLRT
HVREKPFTCKDCGKAFFQIRHLRQHEIIHTGVKPYICNVCSKTFSHSTYLTQHQRTHTGERPYK
CKECGKAFSQRIHLSIHQRVHTGVKPYECSHCGKAFRHDSSFAKHQRIHTGEKPYDCNECGKAF
SCSSSLIRHCKTHLRNTFSNVV

hide sequence

RefSeq Acc Id:

XP_005271193 ⟸ XM_005271136

- Peptide Label:

isoform X1

- Sequence:

show sequence

MLQQLLITLPTEASTWVKLRHPKAATERVALWEDVTKMFKAEALLSQDADETQGESLESRVTLG
SLTAESQELLTFKDVSVDFTQEEWGQLAPAHRNLYREVMLENYGNLVSVAGCQLSKPGVISQLE
KGEEPWLMERDISGVPSSDLKSKTKTKESALQNDISWEELHCGLMMERFTKGSSMYSTLGRISK
CNKLESQQENQRMGKGQIPLMCKKTFTQERGQESNRFEKRINVKSEVMPGPIGLPRKRDRKYDT
PGKRSRYNIDLVNHSRSYTKMKTFECNICEKIFKQLIHLTEHMRIHTGEKPFRCKECGKAFSQS
SSLIPHQRIHTGEKPYECKECGKTFRHPSSLTQHVRIHTGEKPYECRVCEKAFSQSIGLIQHLR
THVREKPFTCKDCGKAFFQIRHLRQHEIIHTGVKPYICNVCSKTFSHSTYLTQHQRTHTGERPY
KCKECGKAFSQRIHLSIHQRVHTGVKPYECSHCGKAFRHDSSFAKHQRIHTGEKPYDCNECGKA
FSCSSSLIRHCKTHLRNTFSNVV

hide sequence

RefSeq Acc Id:

XP_016857636 ⟸ XM_017002147

- Peptide Label:

isoform X1

- Sequence:

show sequence

MLQQLLITLPTEASTWVKLRHPKAATERVALWEDVTKMFKAEALLSQDADETQGESLESRVTLG
SLTAESQELLTFKDVSVDFTQEEWGQLAPAHRNLYREVMLENYGNLVSVAGCQLSKPGVISQLE
KGEEPWLMERDISGVPSSDLKSKTKTKESALQNDISWEELHCGLMMERFTKGSSMYSTLGRISK
CNKLESQQENQRMGKGQIPLMCKKTFTQERGQESNRFEKRINVKSEVMPGPIGLPRKRDRKYDT
PGKRSRYNIDLVNHSRSYTKMKTFECNICEKIFKQLIHLTEHMRIHTGEKPFRCKECGKAFSQS
SSLIPHQRIHTGEKPYECKECGKTFRHPSSLTQHVRIHTGEKPYECRVCEKAFSQSIGLIQHLR
THVREKPFTCKDCGKAFFQIRHLRQHEIIHTGVKPYICNVCSKTFSHSTYLTQHQRTHTGERPY
KCKECGKAFSQRIHLSIHQRVHTGVKPYECSHCGKAFRHDSSFAKHQRIHTGEKPYDCNECGKA
FSCSSSLIRHCKTHLRNTFSNVV

hide sequence

RefSeq Acc Id:	NP_001356494 ⟸ NM_001369565
- UniProtKB:	Q9UJL9 (UniProtKB/Swiss-Prot), Q5QPL4 (UniProtKB/Swiss-Prot)

RefSeq Acc Id:

ENSP00000399664 ⟸ ENST00000411995

RefSeq Acc Id:

ENSP00000354547 ⟸ ENST00000361584

RefSeq Acc Id:

ENSP00000435907 ⟸ ENST00000484445

RefSeq Acc Id:	XP_054194388 ⟸ XM_054338413
- Peptide Label:	isoform X1

RefSeq Acc Id:	XP_054194389 ⟸ XM_054338414
- Peptide Label:	isoform X1

Protein Domains

KRAB SCAN box

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9UJL9-F1-model_v2	AlphaFold	Q9UJL9	1-534	view protein structure

Promoters

RGD ID:

6855116

Promoter ID:

EPDNEW_H723

Type:

initiation region

Name:

ZFP69B_1

Description:

ZFP69 zinc finger protein B

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H722 EPDNEW_H724

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	40,450,115 - 40,450,175	EPDNEW

RGD ID:

6855118

Promoter ID:

EPDNEW_H724

Type:

initiation region

Name:

ZFP69B_3

Description:

ZFP69 zinc finger protein B

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H722 EPDNEW_H723

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	40,450,583 - 40,450,643	EPDNEW

RGD ID:

6787281

Promoter ID:

HG_KWN:2208

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4

Transcripts:

ENST00000235657, OTTHUMT00000019079, OTTHUMT00000019081

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	1	40,688,054 - 40,688,554 (+)	MPROMDB

RGD ID:

6787279

Promoter ID:

HG_KWN:2209

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, K562, Lymphoblastoid

Transcripts:

OTTHUMT00000019078

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	1	40,688,306 - 40,689,337 (+)	MPROMDB

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:28053	AgrOrtholog
COSMIC	ZFP69B	COSMIC
Ensembl Genes	ENSG00000187801	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000361584	ENTREZGENE
	ENST00000361584.5	UniProtKB/Swiss-Prot
	ENST00000411995	ENTREZGENE
	ENST00000411995.6	UniProtKB/Swiss-Prot
	ENST00000469416	ENTREZGENE
	ENST00000484445.5	UniProtKB/TrEMBL
Gene3D-CATH	6.10.140.140	UniProtKB/Swiss-Prot
	Classic Zinc Finger	UniProtKB/Swiss-Prot
GTEx	ENSG00000187801	GTEx
HGNC ID	HGNC:28053	ENTREZGENE
Human Proteome Map	ZFP69B	Human Proteome Map
InterPro	KRAB	UniProtKB/Swiss-Prot
	KRAB_dom_sf	UniProtKB/Swiss-Prot
	SCAN_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Znf_C2H2_sf	UniProtKB/Swiss-Prot
	Znf_C2H2_type	UniProtKB/Swiss-Prot
KEGG Report	hsa:65243	UniProtKB/Swiss-Prot
NCBI Gene	65243	ENTREZGENE
PANTHER	KRAB DOMAIN C2H2 ZINC FINGER	UniProtKB/Swiss-Prot
	ZINC FINGER IMPRINTED 2	UniProtKB/Swiss-Prot
Pfam	KRAB	UniProtKB/Swiss-Prot
	zf-C2H2	UniProtKB/Swiss-Prot
PharmGKB	PA134991949	PharmGKB
PROSITE	KRAB	UniProtKB/Swiss-Prot
	SCAN_BOX	UniProtKB/TrEMBL
	ZINC_FINGER_C2H2_1	UniProtKB/Swiss-Prot
	ZINC_FINGER_C2H2_2	UniProtKB/Swiss-Prot
SMART	KRAB	UniProtKB/Swiss-Prot
	ZnF_C2H2	UniProtKB/Swiss-Prot
Superfamily-SCOP	Retrovirus capsid dimerization domain-like	UniProtKB/TrEMBL
	SSF109640	UniProtKB/Swiss-Prot
	SSF57667	UniProtKB/Swiss-Prot
UniProt	E9PS66_HUMAN	UniProtKB/TrEMBL
	Q5QPL4	ENTREZGENE
	Q9UJL9	ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary	Q5QPL4	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2012-12-04	ZFP69B	ZFP69 zinc finger protein B	ZNF643	zinc finger protein 643	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