ERF (ETS2 repressor factor) - Rat Genome Database

Name: ERF
Creator: Rat Genome Database
License: Creative Commons CC BY 4.0
Keywords: Rat Gene RGD Genome

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Gene: ERF (ETS2 repressor factor) Homo sapiens

Analyze

Symbol:

ERF

Name:

ETS2 repressor factor

RGD ID:

1323738

HGNC Page

HGNC

Description:

Exhibits DNA-binding transcription repressor activity, RNA polymerase II-specific and sequence-specific DNA binding activity. Involved in negative regulation of transcription by RNA polymerase II. Localizes to cytosol and nucleoplasm. Implicated in craniosynostosis.

Type:

protein-coding

RefSeq Status:

REVIEWED

Also known as:

CHYTS; CRS4; ETS domain-containing transcription factor ERF; PE-2; PE2

RGD Orthologs

Mouse

Rat

Chinchilla

Bonobo

Dog

Squirrel

Pig

Green Monkey

Naked Mole-Rat

Alliance Genes

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Erf (Ets2 repressor factor)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Rattus norvegicus (Norway rat):	Erf (Ets2 repressor factor)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Erf (ETS2 repressor factor)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	ERF (ETS2 repressor factor)	NCBI	Ortholog
Canis lupus familiaris (dog):	ERF (ETS2 repressor factor)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Erf (ETS2 repressor factor)	NCBI	Ortholog
Sus scrofa (pig):	ERF (ETS2 repressor factor)	HGNC	Ensembl, NCBI, OrthoDB
Chlorocebus sabaeus (African green monkey):	ERF (ETS2 repressor factor)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Erf (ETS2 repressor factor)	NCBI	Ortholog
Other homologs ²
Mus musculus (house mouse):	Erfl (ETS repressor factor like)	HGNC	OrthoDB
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Erf (Ets2 repressor factor)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|TreeFam)
Mus musculus (house mouse):	Erf (Ets2 repressor factor)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|Roundup\|TreeFam)
Danio rerio (zebrafish):	erf (Ets2 repressor factor)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|Roundup\|TreeFam\|ZFIN)
Danio rerio (zebrafish):	erfl3 (Ets2 repressor factor like 3)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|TreeFam)

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.p13 Ensembl	19	42,247,569 - 42,255,128 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh38	19	42,247,569 - 42,255,128 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	19	42,751,717 - 42,759,309 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	19	47,443,557 - 47,451,149 (-)	NCBI	NCBI36		hg18	NCBI36
Build 34	19	47,443,561 - 47,451,113	NCBI
Celera	19	39,552,513 - 39,560,105 (-)	NCBI
Cytogenetic Map	19	q13.2	NCBI
HuRef	19	39,182,130 - 39,189,922 (-)	NCBI		HuRef
CHM1_1	19	42,753,395 - 42,760,967 (-)	NCBI		CHM1_1

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

Arnold-Chiari Malformation (EXP)

atrial heart septal defect (IAGP)

CHITAYAT SYNDROME (IAGP)

Craniofacial Abnormalities (EXP)

craniosynostosis (EXP,IAGP)

Craniosynostosis 4 (IAGP)

Craniosynostosis Syndrome, Autosomal Recessive (IAGP)

genetic disease (IAGP)

Language Development Disorders (EXP)

multiple myeloma (IAGP)

Prostatic Neoplasms (EXP)

schizophrenia (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dimethylhydrazine (ISO)

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

2-hydroxypropanoic acid (EXP)

2-methylcholine (EXP)

4-hydroxyphenyl retinamide (ISO)

8-Br-cAMP (EXP)

aflatoxin B1 (ISO)

all-trans-retinoic acid (EXP,ISO)

amphetamine (ISO)

benzo[a]pyrene (EXP,ISO)

benzo[b]fluoranthene (ISO)

bisphenol A (ISO)

butanal (EXP)

cadmium atom (EXP)

calciol (ISO)

cis-caffeic acid (EXP)

clofibrate (ISO)

cobalt dichloride (EXP)

dibutyl phthalate (ISO)

dieldrin (ISO)

dorsomorphin (EXP)

doxorubicin (EXP)

folic acid (ISO)

furan (ISO)

hydrazine (ISO)

hydrogen peroxide (EXP)

paracetamol (ISO)

propiconazole (ISO)

rac-lactic acid (EXP)

SB 431542 (EXP)

silicon dioxide (EXP)

sulforaphane (ISO)

sunitinib (EXP)

thapsigargin (EXP)

theophylline (EXP)

titanium dioxide (ISO)

trans-caffeic acid (EXP)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

cell differentiation (IBA)

chorio-allantoic fusion (ISO)

ectodermal cell differentiation (ISO)

in utero embryonic development (ISO)

negative regulation of transcription by RNA polymerase II (IDA,IEA)

regulation of transcription by RNA polymerase II (IBA)

trophoblast giant cell differentiation (ISO)

Cellular Component

chromatin (ISA)

cytosol (IDA,TAS)

nucleoplasm (IDA,TAS)

nucleus (IBA,IEA)

Molecular Function

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

DNA-binding transcription repressor activity (IEA)

DNA-binding transcription repressor activity, RNA polymerase II-specific (IDA)

protein binding (IPI)

sequence-specific DNA binding (IDA,IEA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abnormal facial shape (IAGP)

Abnormal form of the vertebral bodies (IAGP)

Abnormal pulmonary Interstitial morphology (IAGP)

Abnormal sacrum morphology (IAGP)

Acanthosis nigricans (IAGP)

Amblyopia (IAGP)

Anterior plagiocephaly (IAGP)

Anteverted nares (IAGP)

Arnold-Chiari malformation (IAGP)

Autosomal dominant inheritance (IAGP)

Blepharophimosis (IAGP)

Brachycephaly (IAGP)

Brachydactyly (IAGP)

Bronchomalacia (IAGP)

Cerebellar hypoplasia (IAGP)

Choanal atresia (IAGP)

Cognitive impairment (IAGP)

Conductive hearing impairment (IAGP)

Conjunctivitis (IAGP)

Convex nasal ridge (IAGP)

Craniosynostosis (IAGP)

Delayed speech and language development (IAGP)

Depressed nasal bridge (IAGP)

Diminished ability to concentrate (IAGP)

Dimple chin (IAGP)

Dolichocephaly (IAGP)

Downturned corners of mouth (IAGP)

Ectopic posterior pituitary (IAGP)

External ear malformation (IAGP)

Facial asymmetry (IAGP)

Finger syndactyly (IAGP)

Flat occiput (IAGP)

Frontal bossing (IAGP)

Generalized hypotonia (IAGP)

Hallux valgus (IAGP)

Headache (IAGP)

High forehead (IAGP)

Hydrocephalus (IAGP)

Hypertelorism (IAGP)

Hypertonia (IAGP)

Hypopigmented skin patches (IAGP)

Hypoplasia of the maxilla (IAGP)

Increased intracranial pressure (IAGP)

Intellectual disability (IAGP)

Iris coloboma (IAGP)

Lambdoidal craniosynostosis (IAGP)

Limitation of joint mobility (IAGP)

Low-set, posteriorly rotated ears (IAGP)

Macrocephaly (IAGP)

Malar flattening (IAGP)

Melanocytic nevus (IAGP)

Midface retrusion (IAGP)

Multiple suture craniosynostosis (IAGP)

Muscular hypotonia (IAGP)

Narrow internal auditory canal (IAGP)

Narrow palate (IAGP)

Optic atrophy (IAGP)

Optic nerve hypoplasia (IAGP)

Pansynostosis (IAGP)

Pectus excavatum (IAGP)

Plagiocephaly (IAGP)

Polyhydramnios (IAGP)

Posterior plagiocephaly (IAGP)

Prominent forehead (IAGP)

Prominent occiput (IAGP)

Proptosis (IAGP)

Protruding ear (IAGP)

Ptosis (IAGP)

Recurrent respiratory infections (IAGP)

Respiratory distress (IAGP)

Respiratory insufficiency (IAGP)

Retrognathia (IAGP)

Round ear (IAGP)

Short columella (IAGP)

Short nose (IAGP)

Short stature (IAGP)

Skeletal dysplasia (IAGP)

Stomatocytosis (IAGP)

Strabismus (IAGP)

Telecanthus (IAGP)

Thick vermilion border (IAGP)

Tracheomalacia (IAGP)

Turricephaly (IAGP)

References

References - curated


1.	GOA_HUMAN data from the GO Consortium
2.	OMIM Disease Annotation Pipeline
3.	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4.	RGD automated import pipeline for gene-chemical interactions
5.	RGD automated import pipeline for human HPO-to-gene-to-disease annotations

Additional References at PubMed

PMID:7588608	PMID:9136988	PMID:9192842	PMID:10330152	PMID:11748221	PMID:12062430	PMID:12477932	PMID:12533699	PMID:14611815	PMID:14678752	PMID:14729966	PMID:15057824
PMID:15489334	PMID:16344560	PMID:16964243	PMID:17081983	PMID:17525531	PMID:17699159	PMID:19274049	PMID:21873635	PMID:22198386	PMID:22990118	PMID:23332764	PMID:23354439
PMID:26097063	PMID:26186194	PMID:26344095	PMID:26496610	PMID:26598620	PMID:26673895	PMID:26760575	PMID:27173435	PMID:27738187	PMID:28514442	PMID:28515055	PMID:28614298
PMID:28750683	PMID:30758909	PMID:30804502	PMID:31753913	PMID:31980649	PMID:32296183	PMID:32370745

Genomics

Comparative Map Data

ERF
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38.p13 Ensembl	19	42,247,569 - 42,255,128 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh38	19	42,247,569 - 42,255,128 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	19	42,751,717 - 42,759,309 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	19	47,443,557 - 47,451,149 (-)	NCBI	NCBI36		hg18	NCBI36
Build 34	19	47,443,561 - 47,451,113	NCBI
Celera	19	39,552,513 - 39,560,105 (-)	NCBI
Cytogenetic Map	19	q13.2	NCBI
HuRef	19	39,182,130 - 39,189,922 (-)	NCBI		HuRef
CHM1_1	19	42,753,395 - 42,760,967 (-)	NCBI		CHM1_1

Erf
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	7	24,941,985 - 24,950,529 (-)	NCBI	GRCm39		mm39
GRCm38	7	25,242,560 - 25,251,104 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	7	25,242,561 - 25,250,761 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	7	26,027,579 - 26,035,777 (-)	NCBI	GRCm37		mm9	NCBIm37
MGSCv36	7	24,951,320 - 24,959,425 (-)	NCBI			mm8
Celera	7	19,858,364 - 19,866,638 (-)	NCBI		Celera
Cytogenetic Map	7	A3	NCBI
cM Map	7	13.73	NCBI

Erf
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Rnor_6.0	1	82,112,449 - 82,120,902 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	1	82,112,449 - 82,120,902 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	1	83,378,953 - 83,382,937 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	1	80,518,385 - 80,527,142 (-)	NCBI	RGSC3.4		rn4	RGSC3.4
RGSC_v3.1	1	80,597,483 - 80,605,113 (-)	NCBI
Celera	1	75,273,608 - 75,281,418 (-)	NCBI		Celera
Cytogenetic Map	1	q21	NCBI

Erf
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955555	654,414 - 665,277 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955555	654,945 - 661,097 (+)	NCBI	ChiLan1.0	ChiLan1.0

ERF
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
PanPan1.1	19	47,728,192 - 47,735,808 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	19	47,728,192 - 47,735,808 (-)	Ensembl	panpan1.1		panPan2
Mhudiblu_PPA_v0	19	39,135,757 - 39,143,343 (-)	NCBI	Mhudiblu_PPA_v0		panPan3

ERF
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1 Ensembl	1	112,117,141 - 112,124,077 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
CanFam3.1	1	112,117,338 - 112,124,464 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1

Erf
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
SpeTri2.0	NW_004936706	255,479 - 263,154 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

ERF
(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	49,678,871 - 49,685,538 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	6	49,678,858 - 49,686,422 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	6	45,597,124 - 45,604,058 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

ERF
(Chlorocebus sabaeus - African green monkey)

Vervet Assembly	Chr	Position (strand)	Source	Genome Browsers
Vervet Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	6	36,452,604 - 36,460,188 (-)	NCBI
ChlSab1.1 Ensembl	6	36,452,577 - 36,460,122 (-)	Ensembl

Erf
(Heterocephalus glaber - naked mole-rat)

Molerat Assembly	Chr	Position (strand)	Source	Genome Browsers
Molerat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla 1.0	NW_004624907	499,913 - 506,719 (+)	NCBI

Position Markers

RH79119

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	42,751,749 - 42,751,877	UniSTS	GRCh37
Build 36	19	47,443,589 - 47,443,717	RGD	NCBI36
Celera	19	39,552,545 - 39,552,673	RGD
Cytogenetic Map	19	q13	UniSTS
HuRef	19	39,182,162 - 39,182,290	UniSTS
GeneMap99-GB4 RH Map	19	242.6	UniSTS
NCBI RH Map	19	453.9	UniSTS

RH80814

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	42,752,380 - 42,752,626	UniSTS	GRCh37
Build 36	19	47,444,220 - 47,444,466	RGD	NCBI36
Celera	19	39,553,176 - 39,553,422	RGD
Cytogenetic Map	19	q13	UniSTS
HuRef	19	39,182,793 - 39,183,039	UniSTS
GeneMap99-GB4 RH Map	19	239.12	UniSTS

ERF__7603

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	42,751,593 - 42,752,411	UniSTS	GRCh37
Build 36	19	47,443,433 - 47,444,251	RGD	NCBI36
Celera	19	39,552,389 - 39,553,207	RGD
HuRef	19	39,182,006 - 39,182,824	UniSTS

RH11603

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	42,755,287 - 42,755,510	UniSTS	GRCh37
Build 36	19	47,447,127 - 47,447,350	RGD	NCBI36
Celera	19	39,556,083 - 39,556,306	RGD
Cytogenetic Map	19	q13	UniSTS
HuRef	19	39,185,700 - 39,185,923	UniSTS
GeneMap99-GB4 RH Map	19	239.84	UniSTS

miRNA Target Status

Confirmed Target Of

miRNA Gene	Mature miRNA	Method Name	Result Type	Data Type	Support Type	PMID
MIR7-2	hsa-miR-7-5p	OncomiRDB	external_info	NA	NA	20978205
MIR7-1	hsa-miR-7-5p	OncomiRDB	external_info	NA	NA	20978205

Predicted Target Of

	Summary Value
Count of predictions:	2724
Count of miRNA genes:	803
Interacting mature miRNAs:	962
Transcripts:	ENST00000222329, ENST00000440177, ENST00000593944, ENST00000595448, ENST00000595941, ENST00000596818, ENST00000598965
Prediction methods:	Microtar, Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

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

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

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

2432

2870

1709

610

1890

455

3624

1382

3331

403

1453

1604

174

1204

2056

Low

121

733

815

403

732

Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_042802	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001301035	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001308402	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001312656	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_006494	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017026468	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017026469	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AA961500	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AB209271	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC006486	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AH005862	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK297666	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK300627	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK314278	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AW005463	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC022231	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM905776	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471126	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB246848	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DC299706	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DC371332	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DC407368	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KT583939	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U15655	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Reference Sequences

RefSeq Acc Id:

ENST00000222329 ⟹ ENSP00000222329

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	19	42,247,569 - 42,255,128 (-)	Ensembl

RefSeq Acc Id:

ENST00000440177 ⟹ ENSP00000388173

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	19	42,248,157 - 42,254,635 (-)	Ensembl

RefSeq Acc Id:

ENST00000593944 ⟹ ENSP00000469274

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	19	42,249,593 - 42,253,899 (-)	Ensembl

RefSeq Acc Id:

ENST00000595448

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	19	42,249,528 - 42,250,172 (-)	Ensembl

RefSeq Acc Id:

ENST00000595941

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	19	42,250,444 - 42,253,894 (-)	Ensembl

RefSeq Acc Id:

ENST00000596818

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	19	42,250,130 - 42,255,107 (-)	Ensembl

RefSeq Acc Id:

ENST00000598965 ⟹ ENSP00000468962

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	19	42,249,622 - 42,250,441 (-)	Ensembl

RefSeq Acc Id:

NM_001301035 ⟹ NP_001287964

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	42,247,569 - 42,254,635 (-)	NCBI
CHM1_1	19	42,753,395 - 42,760,438 (-)	NCBI

Sequence:

show sequence

GTGCGGGGCGGGGGGGCTCGTCCACCGGGCCCGCTATCCCTGGTTCTGCGCTGCGCGGTCCTGC
TGGTGACCTTCACGGCGGCGCGTGCCCTGCACCAGGGTTTGCCTTCCCGGATTGGGCCTACAAG
CCAGAGTCGTCCCCTGGCTCAAGGCAGATCCAGCTGTGGCACTTTATCCTGGAGCTGCTGCGGA
AGGAGGAGTACCAGGGCGTCATTGCCTGGCAGGGGGACTACGGGGAATTCGTCATCAAAGACCC
TGATGAGGTGGCCCGGCTGTGGGGCGTTCGCAAGTGCAAGCCCCAGATGAATTACGACAAGCTG
AGCCGGGCCCTGCGCTATTACTATAACAAGCGCATTCTGCACAAGACCAAGGGGAAACGGTTCA
CCTACAAGTTCAATTTCAACAAACTGGTGCTGGTCAATTACCCATTCATTGATGTGGGGTTGGC
TGGGGGTGCAGTGCCCCAGAGTGCCCCGCCAGTGCCGTCGGGTGGTAGCCACTTCCGCTTCCCT
CCCTCAACGCCCTCCGAGGTGCTGTCCCCCACCGAGGACCCCCGCTCACCACCAGCCTGCTCTT
CATCTTCATCTTCCCTCTTCTCGGCTGTGGTGGCCCGCCGCCTGGGCCGAGGCTCAGTCAGTGA
CTGTAGTGATGGCACGTCAGAGCTGGAGGAACCGCTGGGAGAGGATCCCCGCGCCCGACCACCC
GGCCCTCCGGATCTGGGTGCCTTCCGAGGGCCCCCGCTGGCCCGCCTGCCCCATGACCCTGGTG
TCTTCCGAGTCTATCCCCGGCCTCGGGGTGGCCCTGAACCCCTCAGCCCCTTCCCTGTGTCGCC
TCTGGCCGGTCCTGGATCCCTGCTGCCCCCTCAGCTCTCCCCGGCTCTGCCCATGACGCCCACC
CACCTGGCCTACACTCCCTCGCCCACGCTGAGCCCGATGTACCCCAGTGGTGGCGGGGGGCCCA
GCGGCTCAGGGGGAGGCTCCCACTTCTCCTTCAGCCCTGAGGACATGAAACGGTACCTGCAGGC
CCACACCCAAAGCGTCTACAACTACCACCTCAGCCCCCGCGCCTTCCTGCACTACCCTGGGCTG
GTGGTGCCCCAGCCCCAGCGCCCTGACAAGTGCCCGCTGCCGCCCATGGCACCCGAGACCCCAC
CGGTCCCCTCCTCGGCCTCGTCATCCTCTTCTTCTTCTTCCTCCCCATTCAAGTTTAAGCTCCA
GCCGCCCCCACTCGGACGCCGGCAGCGGGCAGCTGGGGAGAAGGCCGTAGCCGGTGCTGACAAG
AGCGGTGGCAGTGCAGGCGGGCTGGCTGAGGGGGCAGGGGCGCTAGCCCCACCGCCCCCGCCAC
CACAGATCAAGGTGGAGCCCATCTCGGAAGGCGAGTCGGAGGAGGTAGAGGTGACTGACATCAG
TGATGAGGATGAGGAAGACGGGGAGGTGTTCAAGACGCCCCGTGCCCCACCTGCACCCCCTAAG
CCTGAGCCCGGCGAGGCACCCGGGGCATCCCAGTGCATGCCCCTCAAGCTACGCTTTAAGCGGC
GCTGGAGTGAAGACTGTCGCCTCGAAGGGGGTGGGGGCCCCGCTGGGGGCTTTGAGGATGAGGG
TGAGGACAAGAAGGTGCGTGGGGAGGGGCCTGGGGAGGCTGGGGGGCCCCTCACCCCAAGGCGG
GTGAGCTCTGACCTCCAGCATGCCACGGCCCAGCTCTCCCTGGAGCACCGAGACTCCTGAGGGC
TGTGGGCAGGGGACCTGTGTGCCCCGCACCCCCCATGCTTCTTTTGCTGCCTTAAGCCCCCTAT
GCCCTGGAGGTGAGGGCAGCTCTCTTGTCTCTTCCCTGCCTCCTCCCTTTTCCCTCCCCACATT
TTGTATAAAACTTTAATTTCTTTTTTTTAAAAATGGTGGGGGTGGGTGGGTGCCCAGGGCTAGG
GGCTATTCCCTGTCTCTGTGGGTTTCTAAGCTCTGGGCAAAGTGGTGGTAGGGGGAGGGAGGGG
GAAGTTAAGGGGGTCACCTCCATTCTGGGGAATTTATATTTGAATTGAGGCTTTGGCCTTAACA
CCCAGGAACTTTTCTATTACAATCGCTTAGGAAGTAAAGCCTTGTCTCCCTCCCTGTTCTCTGC
CTCTTGTACCCCTCTGACCCACCCGCTCTGCCCCACTCCCAGCCCTCCTCAGCCCCAGCCCTGC
CTGCCCTGCCCCTCCAGGGGGCCATGAGTGCCTAGGTTTCTCATACCCCACAAGGTCACAGCAG
GGGAGGGAGGGACAATTTTATAATGAACCAAAAATTCCATGTGTTGGGGGGTGGGGGGCGGAGG
AGGGTGAGGGGTGCCGCCCATGGGCCACAAATCTCTACAAGTGCCTGCTATCCCTCTCCCACTC
CCCACCCCAGCACCGGTCCAACCCCTTCATCCCCAGCTGCTCCTAGGACTGGCCCATGGGCAGG
CGGGTGGGGGGATGGGAAGGGGGTGCCCTGAAACCAAACTGGAAGCCCCCTCTGCCTCCCAGCT
GGGGCCTCTGGGGTGGGGTGGGGGGCTGTGGTCAAGCCTTATTCTGTATTGGGGACTGAGGGTG
GGGGGAGTAGAGGGGCCGCTGGAGAATGTATTCAAAACAATAAAACTTTGGACCTTTGGATGCA
GTGAAAAAAA

hide sequence

RefSeq Acc Id:

NM_001308402 ⟹ NP_001295331

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	42,247,569 - 42,253,899 (-)	NCBI
CHM1_1	19	42,753,395 - 42,756,400 (-)	NCBI

Sequence:

show sequence

GTTTCCTTCCCCCGGCGGCGGCGGCGGCGGCGGCGGCGGCTCGGGCTCCTGTGTGCGGGGTTTG
CCTTCCCGGATTGGGCCTACAAGCCAGAGTCGTCCCCTGGCTCAAGGCAGATCCAGCTGTGGCA
CTTTATCCTGGAGCTGCTGCGGAAGGAGGAGTACCAGGGCGTCATTGCCTGGCAGGGGGACTAC
GGGGAATTCGTCATCAAAGACCCTGATGAGGTGGCCCGGCTGTGGGGCGTTCGCAAGTGCAAGC
CCCAGATGAATTACGACAAGCTGAGCCGGGCCCTGCGCTATTACTATAACAAGCGCATTCTGCA
CAAGACCAAGGGGAAACGGTTCACCTACAAGTTCAATTTCAACAAACTGGTGCTGGTCAATTAC
CCATTCATTGATGTGGGGTTGGCTGGGGGTGCAGTGCCCCAGAGTGCCCCGCCAGTGCCGTCGG
GTGGTAGCCACTTCCGCTTCCCTCCCTCAACGCCCTCCGAGGTGCTGTCCCCCACCGAGGACCC
CCGCTCACCACCAGCCTGCTCTTCATCTTCATCTTCCCTCTTCTCGGCTGTGGTGGCCCGCCGC
CTGGGCCGAGGCTCAGTCAGTGACTGTAGTGATGGCACGTCAGAGCTGGAGGAACCGCTGGGAG
AGGATCCCCGCGCCCGACCACCCGGCCCTCCGGATCTGGGTGCCTTCCGAGGGCCCCCGCTGGC
CCGCCTGCCCCATGACCCTGGTGTCTTCCGAGTCTATCCCCGGCCTCGGGGTGGCCCTGAACCC
CTCAGCCCCTTCCCTGTGTCGCCTCTGGCCGGTCCTGGATCCCTGCTGCCCCCTCAGCTCTCCC
CGGCTCTGCCCATGACGCCCACCCACCTGGCCTACACTCCCTCGCCCACGCTGAGCCCGATGTA
CCCCAGTGGTGGCGGGGGGCCCAGCGGCTCAGGGGGAGGCTCCCACTTCTCCTTCAGCCCTGAG
GACATGAAACGGTACCTGCAGGCCCACACCCAAAGCGTCTACAACTACCACCTCAGCCCCCGCG
CCTTCCTGCACTACCCTGGGCTGGTGGTGCCCCAGCCCCAGCGCCCTGACAAGTGCCCGCTGCC
GCCCATGGCACCCGAGACCCCACCGGTCCCCTCCTCGGCCTCGTCATCCTCTTCTTCTTCTTCC
TCCCCATTCAAGTTTAAGCTCCAGCCGCCCCCACTCGGACGCCGGCAGCGGGCAGCTGGGGAGA
AGGCCGTAGCCGGTGCTGACAAGAGCGGTGGCAGTGCAGGCGGGCTGGCTGAGGGGGCAGGGGC
GCTAGCCCCACCGCCCCCGCCACCACAGATCAAGGTGGAGCCCATCTCGGAAGGCGAGTCGGAG
GAGGTAGAGGTGACTGACATCAGTGATGAGGATGAGGAAGACGGGGAGGTGTTCAAGACGCCCC
GTGCCCCACCTGCACCCCCTAAGCCTGAGCCCGGCGAGGCACCCGGGGCATCCCAGTGCATGCC
CCTCAAGCTACGCTTTAAGCGGCGCTGGAGTGAAGACTGTCGCCTCGAAGGGGGTGGGGGCCCC
GCTGGGGGCTTTGAGGATGAGGGTGAGGACAAGAAGGTGCGTGGGGAGGGGCCTGGGGAGGCTG
GGGGGCCCCTCACCCCAAGGCGGGTGAGCTCTGACCTCCAGCATGCCACGGCCCAGCTCTCCCT
GGAGCACCGAGACTCCTGAGGGCTGTGGGCAGGGGACCTGTGTGCCCCGCACCCCCCATGCTTC
TTTTGCTGCCTTAAGCCCCCTATGCCCTGGAGGTGAGGGCAGCTCTCTTGTCTCTTCCCTGCCT
CCTCCCTTTTCCCTCCCCACATTTTGTATAAAACTTTAATTTCTTTTTTTTAAAAATGGTGGGG
GTGGGTGGGTGCCCAGGGCTAGGGGCTATTCCCTGTCTCTGTGGGTTTCTAAGCTCTGGGCAAA
GTGGTGGTAGGGGGAGGGAGGGGGAAGTTAAGGGGGTCACCTCCATTCTGGGGAATTTATATTT
GAATTGAGGCTTTGGCCTTAACACCCAGGAACTTTTCTATTACAATCGCTTAGGAAGTAAAGCC
TTGTCTCCCTCCCTGTTCTCTGCCTCTTGTACCCCTCTGACCCACCCGCTCTGCCCCACTCCCA
GCCCTCCTCAGCCCCAGCCCTGCCTGCCCTGCCCCTCCAGGGGGCCATGAGTGCCTAGGTTTCT
CATACCCCACAAGGTCACAGCAGGGGAGGGAGGGACAATTTTATAATGAACCAAAAATTCCATG
TGTTGGGGGGTGGGGGGCGGAGGAGGGTGAGGGGTGCCGCCCATGGGCCACAAATCTCTACAAG
TGCCTGCTATCCCTCTCCCACTCCCCACCCCAGCACCGGTCCAACCCCTTCATCCCCAGCTGCT
CCTAGGACTGGCCCATGGGCAGGCGGGTGGGGGGATGGGAAGGGGGTGCCCTGAAACCAAACTG
GAAGCCCCCTCTGCCTCCCAGCTGGGGCCTCTGGGGTGGGGTGGGGGGCTGTGGTCAAGCCTTA
TTCTGTATTGGGGACTGAGGGTGGGGGGAGTAGAGGGGCCGCTGGAGAATGTATTCAAAACAAT
AAAACTTTGGACCTTTGGATGCAGTGAAAAAA

hide sequence

RefSeq Acc Id:

NM_001312656 ⟹ NP_001299585

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	42,247,569 - 42,255,128 (-)	NCBI
CHM1_1	19	42,753,395 - 42,760,967 (-)	NCBI

Sequence:

show sequence

GTGCGATATTAACCCGGGAGGCGGCGGCGGGGAGGGGAGAGGCTCTGAGAGGCGAGGCCGGGGT
TTGCCTTCCCGGATTGGGCCTACAAGCCAGAGTCGTCCCCTGGCTCAAGGCAGATCCAGCTGTG
GCACTTTATCCTGGAGCTGCTGCGGAAGGAGGAGTACCAGGGCGTCATTGCCTGGCAGGGGGAC
TACGGGGAATTCGTCATCAAAGACCCTGATGAGGTGGCCCGGCTGTGGGGCGTTCGCAAGTGCA
AGCCCCAGATGAATTACGACAAGCTGAGCCGGGCCCTGCGCTATTACTATAACAAGCGCATTCT
GCACAAGACCAAGGGGAAACGGTTCACCTACAAGTTCAATTTCAACAAACTGGTGCTGGTCAAT
TACCCATTCATTGATGTGGGGTTGGCTGGGGGTGCAGTGCCCCAGAGTGCCCCGCCAGTGCCGT
CGGGTGGTAGCCACTTCCGCTTCCCTCCCTCAACGCCCTCCGAGGTGCTGTCCCCCACCGAGGA
CCCCCGCTCACCACCAGCCTGCTCTTCATCTTCATCTTCCCTCTTCTCGGCTGTGGTGGCCCGC
CGCCTGGGCCGAGGCTCAGTCAGTGACTGTAGTGATGGCACGTCAGAGCTGGAGGAACCGCTGG
GAGAGGATCCCCGCGCCCGACCACCCGGCCCTCCGGATCTGGGTGCCTTCCGAGGGCCCCCGCT
GGCCCGCCTGCCCCATGACCCTGGTGTCTTCCGAGTCTATCCCCGGCCTCGGGGTGGCCCTGAA
CCCCTCAGCCCCTTCCCTGTGTCGCCTCTGGCCGGTCCTGGATCCCTGCTGCCCCCTCAGCTCT
CCCCGGCTCTGCCCATGACGCCCACCCACCTGGCCTACACTCCCTCGCCCACGCTGAGCCCGAT
GTACCCCAGTGGTGGCGGGGGGCCCAGCGGCTCAGGGGGAGGCTCCCACTTCTCCTTCAGCCCT
GAGGACATGAAACGGTACCTGCAGGCCCACACCCAAAGCGTCTACAACTACCACCTCAGCCCCC
GCGCCTTCCTGCACTACCCTGGGCTGGTGGTGCCCCAGCCCCAGCGCCCTGACAAGTGCCCGCT
GCCGCCCATGGCACCCGAGACCCCACCGGTCCCCTCCTCGGCCTCGTCATCCTCTTCTTCTTCT
TCCTCCCCATTCAAGTTTAAGCTCCAGCCGCCCCCACTCGGACGCCGGCAGCGGGCAGCTGGGG
AGAAGGCCGTAGCCGGTGCTGACAAGAGCGGTGGCAGTGCAGGCGGGCTGGCTGAGGGGGCAGG
GGCGCTAGCCCCACCGCCCCCGCCACCACAGATCAAGGTGGAGCCCATCTCGGAAGGCGAGTCG
GAGGAGGTAGAGGTGACTGACATCAGTGATGAGGATGAGGAAGACGGGGAGGTGTTCAAGACGC
CCCGTGCCCCACCTGCACCCCCTAAGCCTGAGCCCGGCGAGGCACCCGGGGCATCCCAGTGCAT
GCCCCTCAAGCTACGCTTTAAGCGGCGCTGGAGTGAAGACTGTCGCCTCGAAGGGGGTGGGGGC
CCCGCTGGGGGCTTTGAGGATGAGGGTGAGGACAAGAAGGTGCGTGGGGAGGGGCCTGGGGAGG
CTGGGGGGCCCCTCACCCCAAGGCGGGTGAGCTCTGACCTCCAGCATGCCACGGCCCAGCTCTC
CCTGGAGCACCGAGACTCCTGAGGGCTGTGGGCAGGGGACCTGTGTGCCCCGCACCCCCCATGC
TTCTTTTGCTGCCTTAAGCCCCCTATGCCCTGGAGGTGAGGGCAGCTCTCTTGTCTCTTCCCTG
CCTCCTCCCTTTTCCCTCCCCACATTTTGTATAAAACTTTAATTTCTTTTTTTTAAAAATGGTG
GGGGTGGGTGGGTGCCCAGGGCTAGGGGCTATTCCCTGTCTCTGTGGGTTTCTAAGCTCTGGGC
AAAGTGGTGGTAGGGGGAGGGAGGGGGAAGTTAAGGGGGTCACCTCCATTCTGGGGAATTTATA
TTTGAATTGAGGCTTTGGCCTTAACACCCAGGAACTTTTCTATTACAATCGCTTAGGAAGTAAA
GCCTTGTCTCCCTCCCTGTTCTCTGCCTCTTGTACCCCTCTGACCCACCCGCTCTGCCCCACTC
CCAGCCCTCCTCAGCCCCAGCCCTGCCTGCCCTGCCCCTCCAGGGGGCCATGAGTGCCTAGGTT
TCTCATACCCCACAAGGTCACAGCAGGGGAGGGAGGGACAATTTTATAATGAACCAAAAATTCC
ATGTGTTGGGGGGTGGGGGGCGGAGGAGGGTGAGGGGTGCCGCCCATGGGCCACAAATCTCTAC
AAGTGCCTGCTATCCCTCTCCCACTCCCCACCCCAGCACCGGTCCAACCCCTTCATCCCCAGCT
GCTCCTAGGACTGGCCCATGGGCAGGCGGGTGGGGGGATGGGAAGGGGGTGCCCTGAAACCAAA
CTGGAAGCCCCCTCTGCCTCCCAGCTGGGGCCTCTGGGGTGGGGTGGGGGGCTGTGGTCAAGCC
TTATTCTGTATTGGGGACTGAGGGTGGGGGGAGTAGAGGGGCCGCTGGAGAATGTATTCAAAAC
AATAAAACTTTGGACCTTTGGATGCAGTGAAAAAAA

hide sequence

RefSeq Acc Id:

NM_006494 ⟹ NP_006485

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	42,247,569 - 42,255,128 (-)	NCBI
GRCh37	19	42,751,717 - 42,759,309 (-)	ENTREZGENE
Build 36	19	47,443,557 - 47,451,149 (-)	NCBI Archive
HuRef	19	39,182,130 - 39,189,922 (-)	ENTREZGENE
CHM1_1	19	42,753,395 - 42,760,967 (-)	NCBI

Sequence:

show sequence

GTGCGATATTAACCCGGGAGGCGGCGGCGGGGAGGGGAGAGGCTCTGAGAGGCGAGGCCGGGTG
AGGCGGCGAGGGCGGCCCGACGGGCGCGGGACGGGACGGGGCAGCGAGGGCGCCGGGAGCCGCG
GCCCGGAATCGGGGCGCTTCGCCCCGGGCCCCCCAGCATGAAGACCCCGGCGGACACAGGGTTT
GCCTTCCCGGATTGGGCCTACAAGCCAGAGTCGTCCCCTGGCTCAAGGCAGATCCAGCTGTGGC
ACTTTATCCTGGAGCTGCTGCGGAAGGAGGAGTACCAGGGCGTCATTGCCTGGCAGGGGGACTA
CGGGGAATTCGTCATCAAAGACCCTGATGAGGTGGCCCGGCTGTGGGGCGTTCGCAAGTGCAAG
CCCCAGATGAATTACGACAAGCTGAGCCGGGCCCTGCGCTATTACTATAACAAGCGCATTCTGC
ACAAGACCAAGGGGAAACGGTTCACCTACAAGTTCAATTTCAACAAACTGGTGCTGGTCAATTA
CCCATTCATTGATGTGGGGTTGGCTGGGGGTGCAGTGCCCCAGAGTGCCCCGCCAGTGCCGTCG
GGTGGTAGCCACTTCCGCTTCCCTCCCTCAACGCCCTCCGAGGTGCTGTCCCCCACCGAGGACC
CCCGCTCACCACCAGCCTGCTCTTCATCTTCATCTTCCCTCTTCTCGGCTGTGGTGGCCCGCCG
CCTGGGCCGAGGCTCAGTCAGTGACTGTAGTGATGGCACGTCAGAGCTGGAGGAACCGCTGGGA
GAGGATCCCCGCGCCCGACCACCCGGCCCTCCGGATCTGGGTGCCTTCCGAGGGCCCCCGCTGG
CCCGCCTGCCCCATGACCCTGGTGTCTTCCGAGTCTATCCCCGGCCTCGGGGTGGCCCTGAACC
CCTCAGCCCCTTCCCTGTGTCGCCTCTGGCCGGTCCTGGATCCCTGCTGCCCCCTCAGCTCTCC
CCGGCTCTGCCCATGACGCCCACCCACCTGGCCTACACTCCCTCGCCCACGCTGAGCCCGATGT
ACCCCAGTGGTGGCGGGGGGCCCAGCGGCTCAGGGGGAGGCTCCCACTTCTCCTTCAGCCCTGA
GGACATGAAACGGTACCTGCAGGCCCACACCCAAAGCGTCTACAACTACCACCTCAGCCCCCGC
GCCTTCCTGCACTACCCTGGGCTGGTGGTGCCCCAGCCCCAGCGCCCTGACAAGTGCCCGCTGC
CGCCCATGGCACCCGAGACCCCACCGGTCCCCTCCTCGGCCTCGTCATCCTCTTCTTCTTCTTC
CTCCCCATTCAAGTTTAAGCTCCAGCCGCCCCCACTCGGACGCCGGCAGCGGGCAGCTGGGGAG
AAGGCCGTAGCCGGTGCTGACAAGAGCGGTGGCAGTGCAGGCGGGCTGGCTGAGGGGGCAGGGG
CGCTAGCCCCACCGCCCCCGCCACCACAGATCAAGGTGGAGCCCATCTCGGAAGGCGAGTCGGA
GGAGGTAGAGGTGACTGACATCAGTGATGAGGATGAGGAAGACGGGGAGGTGTTCAAGACGCCC
CGTGCCCCACCTGCACCCCCTAAGCCTGAGCCCGGCGAGGCACCCGGGGCATCCCAGTGCATGC
CCCTCAAGCTACGCTTTAAGCGGCGCTGGAGTGAAGACTGTCGCCTCGAAGGGGGTGGGGGCCC
CGCTGGGGGCTTTGAGGATGAGGGTGAGGACAAGAAGGTGCGTGGGGAGGGGCCTGGGGAGGCT
GGGGGGCCCCTCACCCCAAGGCGGGTGAGCTCTGACCTCCAGCATGCCACGGCCCAGCTCTCCC
TGGAGCACCGAGACTCCTGAGGGCTGTGGGCAGGGGACCTGTGTGCCCCGCACCCCCCATGCTT
CTTTTGCTGCCTTAAGCCCCCTATGCCCTGGAGGTGAGGGCAGCTCTCTTGTCTCTTCCCTGCC
TCCTCCCTTTTCCCTCCCCACATTTTGTATAAAACTTTAATTTCTTTTTTTTAAAAATGGTGGG
GGTGGGTGGGTGCCCAGGGCTAGGGGCTATTCCCTGTCTCTGTGGGTTTCTAAGCTCTGGGCAA
AGTGGTGGTAGGGGGAGGGAGGGGGAAGTTAAGGGGGTCACCTCCATTCTGGGGAATTTATATT
TGAATTGAGGCTTTGGCCTTAACACCCAGGAACTTTTCTATTACAATCGCTTAGGAAGTAAAGC
CTTGTCTCCCTCCCTGTTCTCTGCCTCTTGTACCCCTCTGACCCACCCGCTCTGCCCCACTCCC
AGCCCTCCTCAGCCCCAGCCCTGCCTGCCCTGCCCCTCCAGGGGGCCATGAGTGCCTAGGTTTC
TCATACCCCACAAGGTCACAGCAGGGGAGGGAGGGACAATTTTATAATGAACCAAAAATTCCAT
GTGTTGGGGGGTGGGGGGCGGAGGAGGGTGAGGGGTGCCGCCCATGGGCCACAAATCTCTACAA
GTGCCTGCTATCCCTCTCCCACTCCCCACCCCAGCACCGGTCCAACCCCTTCATCCCCAGCTGC
TCCTAGGACTGGCCCATGGGCAGGCGGGTGGGGGGATGGGAAGGGGGTGCCCTGAAACCAAACT
GGAAGCCCCCTCTGCCTCCCAGCTGGGGCCTCTGGGGTGGGGTGGGGGGCTGTGGTCAAGCCTT
ATTCTGTATTGGGGACTGAGGGTGGGGGGAGTAGAGGGGCCGCTGGAGAATGTATTCAAAACAA
TAAAACTTTGGACCTTTGGATGCAGTGAAAAAAA

hide sequence

RefSeq Acc Id:

XM_017026468 ⟹ XP_016881957

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	42,247,569 - 42,250,918 (-)	NCBI

Sequence:

show sequence

GGCTGGCCACGTGTGCCCCTTCCTGCCCCTCCCCCACTGGCAGCCCTGCCCGCCAGCCTGGCTT
GGTGCCTGGCCCCCTGGCACTGGCCCCGGGACCCACCGCCGACGGTTTCCTGTTTCTCCCGGTG
TCGCTGGAGCGGGCTCCAGCTTCCCCTCCCCCCCAGCTCCTGTCTAGCCCCTCACATGCAGACA
GACAGACACGCACTGTCTTCTCTTAAATCAGATCTTGACTTGGCTGAGGGTTTGCCTTCCCGGA
TTGGGCCTACAAGCCAGAGTCGTCCCCTGGCTCAAGGCAGATCCAGCTGTGGCACTTTATCCTG
GAGCTGCTGCGGAAGGAGGAGTACCAGGGCGTCATTGCCTGGCAGGGGGACTACGGGGAATTCG
TCATCAAAGACCCTGATGAGGTGGCCCGGCTGTGGGGCGTTCGCAAGTGCAAGCCCCAGATGAA
TTACGACAAGCTGAGCCGGGCCCTGCGCTATTACTATAACAAGCGCATTCTGCACAAGACCAAG
GGGAAACGGTTCACCTACAAGTTCAATTTCAACAAACTGGTGCTGGTCAATTACCCATTCATTG
ATGTGGGGTTGGCTGGGGGTGCAGTGCCCCAGAGTGCCCCGCCAGTGCCGTCGGGTGGTAGCCA
CTTCCGCTTCCCTCCCTCAACGCCCTCCGAGGTGCTGTCCCCCACCGAGGACCCCCGCTCACCA
CCAGCCTGCTCTTCATCTTCATCTTCCCTCTTCTCGGCTGTGGTGGCCCGCCGCCTGGGCCGAG
GCTCAGTCAGTGACTGTAGTGATGGCACGTCAGAGCTGGAGGAACCGCTGGGAGAGGATCCCCG
CGCCCGACCACCCGGCCCTCCGGATCTGGGTGCCTTCCGAGGGCCCCCGCTGGCCCGCCTGCCC
CATGACCCTGGTGTCTTCCGAGTCTATCCCCGGCCTCGGGGTGGCCCTGAACCCCTCAGCCCCT
TCCCTGTGTCGCCTCTGGCCGGTCCTGGATCCCTGCTGCCCCCTCAGCTCTCCCCGGCTCTGCC
CATGACGCCCACCCACCTGGCCTACACTCCCTCGCCCACGCTGAGCCCGATGTACCCCAGTGGT
GGCGGGGGGCCCAGCGGCTCAGGGGGAGGCTCCCACTTCTCCTTCAGCCCTGAGGACATGAAAC
GGTACCTGCAGGCCCACACCCAAAGCGTCTACAACTACCACCTCAGCCCCCGCGCCTTCCTGCA
CTACCCTGGGCTGGTGGTGCCCCAGCCCCAGCGCCCTGACAAGTGCCCGCTGCCGCCCATGGCA
CCCGAGACCCCACCGGTCCCCTCCTCGGCCTCGTCATCCTCTTCTTCTTCTTCCTCCCCATTCA
AGTTTAAGCTCCAGCCGCCCCCACTCGGACGCCGGCAGCGGGCAGCTGGGGAGAAGGCCGTAGC
CGGTGCTGACAAGAGCGGTGGCAGTGCAGGCGGGCTGGCTGAGGGGGCAGGGGCGCTAGCCCCA
CCGCCCCCGCCACCACAGATCAAGGTGGAGCCCATCTCGGAAGGCGAGTCGGAGGAGGTAGAGG
TGACTGACATCAGTGATGAGGATGAGGAAGACGGGGAGGTGTTCAAGACGCCCCGTGCCCCACC
TGCACCCCCTAAGCCTGAGCCCGGCGAGGCACCCGGGGCATCCCAGTGCATGCCCCTCAAGCTA
CGCTTTAAGCGGCGCTGGAGTGAAGACTGTCGCCTCGAAGGGGGTGGGGGCCCCGCTGGGGGCT
TTGAGGATGAGGGTGAGGACAAGAAGGTGCGTGGGGAGGGGCCTGGGGAGGCTGGGGGGCCCCT
CACCCCAAGGCGGGTGAGCTCTGACCTCCAGCATGCCACGGCCCAGCTCTCCCTGGAGCACCGA
GACTCCTGAGGGCTGTGGGCAGGGGACCTGTGTGCCCCGCACCCCCCATGCTTCTTTTGCTGCC
TTAAGCCCCCTATGCCCTGGAGGTGAGGGCAGCTCTCTTGTCTCTTCCCTGCCTCCTCCCTTTT
CCCTCCCCACATTTTGTATAAAACTTTAATTTCTTTTTTTTAAAAATGGTGGGGGTGGGTGGGT
GCCCAGGGCTAGGGGCTATTCCCTGTCTCTGTGGGTTTCTAAGCTCTGGGCAAAGTGGTGGTAG
GGGGAGGGAGGGGGAAGTTAAGGGGGTCACCTCCATTCTGGGGAATTTATATTTGAATTGAGGC
TTTGGCCTTAACACCCAGGAACTTTTCTATTACAATCGCTTAGGAAGTAAAGCCTTGTCTCCCT
CCCTGTTCTCTGCCTCTTGTACCCCTCTGACCCACCCGCTCTGCCCCACTCCCAGCCCTCCTCA
GCCCCAGCCCTGCCTGCCCTGCCCCTCCAGGGGGCCATGAGTGCCTAGGTTTCTCATACCCCAC
AAGGTCACAGCAGGGGAGGGAGGGACAATTTTATAATGAACCAAAAATTCCATGTGTTGGGGGG
TGGGGGGCGGAGGAGGGTGAGGGGTGCCGCCCATGGGCCACAAATCTCTACAAGTGCCTGCTAT
CCCTCTCCCACTCCCCACCCCAGCACCGGTCCAACCCCTTCATCCCCAGCTGCTCCTAGGACTG
GCCCATGGGCAGGCGGGTGGGGGGATGGGAAGGGGGTGCCCTGAAACCAAACTGGAAGCCCCCT
CTGCCTCCCAGCTGGGGCCTCTGGGGTGGGGTGGGGGGCTGTGGTCAAGCCTTATTCTGTATTG
GGGACTGAGGGTGGGGGGAGTAGAGGGGCCGCTGGAGAATGTATTCAAAACAATAAAACTTTGG
ACCTTTGGA

hide sequence

RefSeq Acc Id:

XM_017026469 ⟹ XP_016881958

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	42,247,569 - 42,251,435 (-)	NCBI

Sequence:

show sequence

CCACCCCCTCCAGAGACCAGCCAGCCCACCGCCAACCTCTACCCAAGGGTTTGCCTTCCCGGAT
TGGGCCTACAAGCCAGAGTCGTCCCCTGGCTCAAGGCAGATCCAGCTGTGGCACTTTATCCTGG
AGCTGCTGCGGAAGGAGGAGTACCAGGGCGTCATTGCCTGGCAGGGGGACTACGGGGAATTCGT
CATCAAAGACCCTGATGAGGTGGCCCGGCTGTGGGGCGTTCGCAAGTGCAAGCCCCAGATGAAT
TACGACAAGCTGAGCCGGGCCCTGCGCTATTACTATAACAAGCGCATTCTGCACAAGACCAAGG
GGAAACGGTTCACCTACAAGTTCAATTTCAACAAACTGGTGCTGGTCAATTACCCATTCATTGA
TGTGGGGTTGGCTGGGGGTGCAGTGCCCCAGAGTGCCCCGCCAGTGCCGTCGGGTGGTAGCCAC
TTCCGCTTCCCTCCCTCAACGCCCTCCGAGGTGCTGTCCCCCACCGAGGACCCCCGCTCACCAC
CAGCCTGCTCTTCATCTTCATCTTCCCTCTTCTCGGCTGTGGTGGCCCGCCGCCTGGGCCGAGG
CTCAGTCAGTGACTGTAGTGATGGCACGTCAGAGCTGGAGGAACCGCTGGGAGAGGATCCCCGC
GCCCGACCACCCGGCCCTCCGGATCTGGGTGCCTTCCGAGGGCCCCCGCTGGCCCGCCTGCCCC
ATGACCCTGGTGTCTTCCGAGTCTATCCCCGGCCTCGGGGTGGCCCTGAACCCCTCAGCCCCTT
CCCTGTGTCGCCTCTGGCCGGTCCTGGATCCCTGCTGCCCCCTCAGCTCTCCCCGGCTCTGCCC
ATGACGCCCACCCACCTGGCCTACACTCCCTCGCCCACGCTGAGCCCGATGTACCCCAGTGGTG
GCGGGGGGCCCAGCGGCTCAGGGGGAGGCTCCCACTTCTCCTTCAGCCCTGAGGACATGAAACG
GTACCTGCAGGCCCACACCCAAAGCGTCTACAACTACCACCTCAGCCCCCGCGCCTTCCTGCAC
TACCCTGGGCTGGTGGTGCCCCAGCCCCAGCGCCCTGACAAGTGCCCGCTGCCGCCCATGGCAC
CCGAGACCCCACCGGTCCCCTCCTCGGCCTCGTCATCCTCTTCTTCTTCTTCCTCCCCATTCAA
GTTTAAGCTCCAGCCGCCCCCACTCGGACGCCGGCAGCGGGCAGCTGGGGAGAAGGCCGTAGCC
GGTGCTGACAAGAGCGGTGGCAGTGCAGGCGGGCTGGCTGAGGGGGCAGGGGCGCTAGCCCCAC
CGCCCCCGCCACCACAGATCAAGGTGGAGCCCATCTCGGAAGGCGAGTCGGAGGAGGTAGAGGT
GACTGACATCAGTGATGAGGATGAGGAAGACGGGGAGGTGTTCAAGACGCCCCGTGCCCCACCT
GCACCCCCTAAGCCTGAGCCCGGCGAGGCACCCGGGGCATCCCAGTGCATGCCCCTCAAGCTAC
GCTTTAAGCGGCGCTGGAGTGAAGACTGTCGCCTCGAAGGGGGTGGGGGCCCCGCTGGGGGCTT
TGAGGATGAGGGTGAGGACAAGAAGGTGCGTGGGGAGGGGCCTGGGGAGGCTGGGGGGCCCCTC
ACCCCAAGGCGGGTGAGCTCTGACCTCCAGCATGCCACGGCCCAGCTCTCCCTGGAGCACCGAG
ACTCCTGAGGGCTGTGGGCAGGGGACCTGTGTGCCCCGCACCCCCCATGCTTCTTTTGCTGCCT
TAAGCCCCCTATGCCCTGGAGGTGAGGGCAGCTCTCTTGTCTCTTCCCTGCCTCCTCCCTTTTC
CCTCCCCACATTTTGTATAAAACTTTAATTTCTTTTTTTTAAAAATGGTGGGGGTGGGTGGGTG
CCCAGGGCTAGGGGCTATTCCCTGTCTCTGTGGGTTTCTAAGCTCTGGGCAAAGTGGTGGTAGG
GGGAGGGAGGGGGAAGTTAAGGGGGTCACCTCCATTCTGGGGAATTTATATTTGAATTGAGGCT
TTGGCCTTAACACCCAGGAACTTTTCTATTACAATCGCTTAGGAAGTAAAGCCTTGTCTCCCTC
CCTGTTCTCTGCCTCTTGTACCCCTCTGACCCACCCGCTCTGCCCCACTCCCAGCCCTCCTCAG
CCCCAGCCCTGCCTGCCCTGCCCCTCCAGGGGGCCATGAGTGCCTAGGTTTCTCATACCCCACA
AGGTCACAGCAGGGGAGGGAGGGACAATTTTATAATGAACCAAAAATTCCATGTGTTGGGGGGT
GGGGGGCGGAGGAGGGTGAGGGGTGCCGCCCATGGGCCACAAATCTCTACAAGTGCCTGCTATC
CCTCTCCCACTCCCCACCCCAGCACCGGTCCAACCCCTTCATCCCCAGCTGCTCCTAGGACTGG
CCCATGGGCAGGCGGGTGGGGGGATGGGAAGGGGGTGCCCTGAAACCAAACTGGAAGCCCCCTC
TGCCTCCCAGCTGGGGCCTCTGGGGTGGGGTGGGGGGCTGTGGTCAAGCCTTATTCTGTATTGG
GGACTGAGGGTGGGGGGAGTAGAGGGGCCGCTGGAGAATGTATTCAAAACAATAAAACTTTGGA
CCTTTGGA

hide sequence

Protein Sequences


Protein RefSeqs	NP_001287964	(Get FASTA)	NCBI Sequence Viewer
	NP_001295331	(Get FASTA)	NCBI Sequence Viewer
	NP_001299585	(Get FASTA)	NCBI Sequence Viewer
	NP_006485	(Get FASTA)	NCBI Sequence Viewer
	XP_016881957	(Get FASTA)	NCBI Sequence Viewer
	XP_016881958	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAA86686	(Get FASTA)	NCBI Sequence Viewer
	AAD11987	(Get FASTA)	NCBI Sequence Viewer
	AAH22231	(Get FASTA)	NCBI Sequence Viewer
	BAD92508	(Get FASTA)	NCBI Sequence Viewer
	BAG36938	(Get FASTA)	NCBI Sequence Viewer
	BAH12646	(Get FASTA)	NCBI Sequence Viewer
	BAH13317	(Get FASTA)	NCBI Sequence Viewer
	EAW57116	(Get FASTA)	NCBI Sequence Viewer
	EAW57117	(Get FASTA)	NCBI Sequence Viewer
	EAW57118	(Get FASTA)	NCBI Sequence Viewer
	P50548	(Get FASTA)	NCBI Sequence Viewer

Reference Sequences

RefSeq Acc Id:	NP_006485 ⟸ NM_006494
- Peptide Label:	isoform 1
- UniProtKB:	P50548 (UniProtKB/Swiss-Prot), A0A024R0L4 (UniProtKB/TrEMBL)
- Sequence:	show sequence MKTPADTGFAFPDWAYKPESSPGSRQIQLWHFILELLRKEEYQGVIAWQGDYGEFVIKDPDEVA RLWGVRKCKPQMNYDKLSRALRYYYNKRILHKTKGKRFTYKFNFNKLVLVNYPFIDVGLAGGAV PQSAPPVPSGGSHFRFPPSTPSEVLSPTEDPRSPPACSSSSSSLFSAVVARRLGRGSVSDCSDG TSELEEPLGEDPRARPPGPPDLGAFRGPPLARLPHDPGVFRVYPRPRGGPEPLSPFPVSPLAGP GSLLPPQLSPALPMTPTHLAYTPSPTLSPMYPSGGGGPSGSGGGSHFSFSPEDMKRYLQAHTQS VYNYHLSPRAFLHYPGLVVPQPQRPDKCPLPPMAPETPPVPSSASSSSSSSSSPFKFKLQPPPL GRRQRAAGEKAVAGADKSGGSAGGLAEGAGALAPPPPPPQIKVEPISEGESEEVEVTDISDEDE EDGEVFKTPRAPPAPPKPEPGEAPGASQCMPLKLRFKRRWSEDCRLEGGGGPAGGFEDEGEDKK VRGEGPGEAGGPLTPRRVSSDLQHATAQLSLEHRDS hide sequence

RefSeq Acc Id:	NP_001287964 ⟸ NM_001301035
- Peptide Label:	isoform 2
- UniProtKB:	P50548 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MNYDKLSRALRYYYNKRILHKTKGKRFTYKFNFNKLVLVNYPFIDVGLAGGAVPQSAPPVPSGG SHFRFPPSTPSEVLSPTEDPRSPPACSSSSSSLFSAVVARRLGRGSVSDCSDGTSELEEPLGED PRARPPGPPDLGAFRGPPLARLPHDPGVFRVYPRPRGGPEPLSPFPVSPLAGPGSLLPPQLSPA LPMTPTHLAYTPSPTLSPMYPSGGGGPSGSGGGSHFSFSPEDMKRYLQAHTQSVYNYHLSPRAF LHYPGLVVPQPQRPDKCPLPPMAPETPPVPSSASSSSSSSSSPFKFKLQPPPLGRRQRAAGEKA VAGADKSGGSAGGLAEGAGALAPPPPPPQIKVEPISEGESEEVEVTDISDEDEEDGEVFKTPRA PPAPPKPEPGEAPGASQCMPLKLRFKRRWSEDCRLEGGGGPAGGFEDEGEDKKVRGEGPGEAGG PLTPRRVSSDLQHATAQLSLEHRDS hide sequence

RefSeq Acc Id:	NP_001299585 ⟸ NM_001312656
- Peptide Label:	isoform 2
- UniProtKB:	P50548 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MNYDKLSRALRYYYNKRILHKTKGKRFTYKFNFNKLVLVNYPFIDVGLAGGAVPQSAPPVPSGG SHFRFPPSTPSEVLSPTEDPRSPPACSSSSSSLFSAVVARRLGRGSVSDCSDGTSELEEPLGED PRARPPGPPDLGAFRGPPLARLPHDPGVFRVYPRPRGGPEPLSPFPVSPLAGPGSLLPPQLSPA LPMTPTHLAYTPSPTLSPMYPSGGGGPSGSGGGSHFSFSPEDMKRYLQAHTQSVYNYHLSPRAF LHYPGLVVPQPQRPDKCPLPPMAPETPPVPSSASSSSSSSSSPFKFKLQPPPLGRRQRAAGEKA VAGADKSGGSAGGLAEGAGALAPPPPPPQIKVEPISEGESEEVEVTDISDEDEEDGEVFKTPRA PPAPPKPEPGEAPGASQCMPLKLRFKRRWSEDCRLEGGGGPAGGFEDEGEDKKVRGEGPGEAGG PLTPRRVSSDLQHATAQLSLEHRDS hide sequence

RefSeq Acc Id:	NP_001295331 ⟸ NM_001308402
- Peptide Label:	isoform 2
- UniProtKB:	P50548 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MNYDKLSRALRYYYNKRILHKTKGKRFTYKFNFNKLVLVNYPFIDVGLAGGAVPQSAPPVPSGG SHFRFPPSTPSEVLSPTEDPRSPPACSSSSSSLFSAVVARRLGRGSVSDCSDGTSELEEPLGED PRARPPGPPDLGAFRGPPLARLPHDPGVFRVYPRPRGGPEPLSPFPVSPLAGPGSLLPPQLSPA LPMTPTHLAYTPSPTLSPMYPSGGGGPSGSGGGSHFSFSPEDMKRYLQAHTQSVYNYHLSPRAF LHYPGLVVPQPQRPDKCPLPPMAPETPPVPSSASSSSSSSSSPFKFKLQPPPLGRRQRAAGEKA VAGADKSGGSAGGLAEGAGALAPPPPPPQIKVEPISEGESEEVEVTDISDEDEEDGEVFKTPRA PPAPPKPEPGEAPGASQCMPLKLRFKRRWSEDCRLEGGGGPAGGFEDEGEDKKVRGEGPGEAGG PLTPRRVSSDLQHATAQLSLEHRDS hide sequence

RefSeq Acc Id:	XP_016881958 ⟸ XM_017026469
- Peptide Label:	isoform X1
- UniProtKB:	P50548 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MNYDKLSRALRYYYNKRILHKTKGKRFTYKFNFNKLVLVNYPFIDVGLAGGAVPQSAPPVPSGG SHFRFPPSTPSEVLSPTEDPRSPPACSSSSSSLFSAVVARRLGRGSVSDCSDGTSELEEPLGED PRARPPGPPDLGAFRGPPLARLPHDPGVFRVYPRPRGGPEPLSPFPVSPLAGPGSLLPPQLSPA LPMTPTHLAYTPSPTLSPMYPSGGGGPSGSGGGSHFSFSPEDMKRYLQAHTQSVYNYHLSPRAF LHYPGLVVPQPQRPDKCPLPPMAPETPPVPSSASSSSSSSSSPFKFKLQPPPLGRRQRAAGEKA VAGADKSGGSAGGLAEGAGALAPPPPPPQIKVEPISEGESEEVEVTDISDEDEEDGEVFKTPRA PPAPPKPEPGEAPGASQCMPLKLRFKRRWSEDCRLEGGGGPAGGFEDEGEDKKVRGEGPGEAGG PLTPRRVSSDLQHATAQLSLEHRDS hide sequence

RefSeq Acc Id:	XP_016881957 ⟸ XM_017026468
- Peptide Label:	isoform X1
- UniProtKB:	P50548 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MNYDKLSRALRYYYNKRILHKTKGKRFTYKFNFNKLVLVNYPFIDVGLAGGAVPQSAPPVPSGG SHFRFPPSTPSEVLSPTEDPRSPPACSSSSSSLFSAVVARRLGRGSVSDCSDGTSELEEPLGED PRARPPGPPDLGAFRGPPLARLPHDPGVFRVYPRPRGGPEPLSPFPVSPLAGPGSLLPPQLSPA LPMTPTHLAYTPSPTLSPMYPSGGGGPSGSGGGSHFSFSPEDMKRYLQAHTQSVYNYHLSPRAF LHYPGLVVPQPQRPDKCPLPPMAPETPPVPSSASSSSSSSSSPFKFKLQPPPLGRRQRAAGEKA VAGADKSGGSAGGLAEGAGALAPPPPPPQIKVEPISEGESEEVEVTDISDEDEEDGEVFKTPRA PPAPPKPEPGEAPGASQCMPLKLRFKRRWSEDCRLEGGGGPAGGFEDEGEDKKVRGEGPGEAGG PLTPRRVSSDLQHATAQLSLEHRDS hide sequence

RefSeq Acc Id:

ENSP00000468962 ⟸ ENST00000598965

RefSeq Acc Id:

ENSP00000388173 ⟸ ENST00000440177

RefSeq Acc Id:

ENSP00000222329 ⟸ ENST00000222329

RefSeq Acc Id:

ENSP00000469274 ⟸ ENST00000593944

Protein Domains

ETS

Promoters

RGD ID:

7240163

Promoter ID:

EPDNEW_H25828

Type:

initiation region

Name:

ERF_3

Description:

ETS2 repressor factor

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H25829 EPDNEW_H25830 EPDNEW_H25831

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	42,248,204 - 42,248,264	EPDNEW

RGD ID:

7240165

Promoter ID:

EPDNEW_H25829

Type:

initiation region

Name:

ERF_4

Description:

ETS2 repressor factor

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H25828 EPDNEW_H25830 EPDNEW_H25831

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	42,249,289 - 42,249,349	EPDNEW

RGD ID:

7240169

Promoter ID:

EPDNEW_H25830

Type:

multiple initiation site

Name:

ERF_2

Description:

ETS2 repressor factor

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H25828 EPDNEW_H25829 EPDNEW_H25831

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	42,253,899 - 42,253,959	EPDNEW

RGD ID:

7240171

Promoter ID:

EPDNEW_H25831

Type:

initiation region

Name:

ERF_1

Description:

ETS2 repressor factor

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H25828 EPDNEW_H25829 EPDNEW_H25830

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	42,255,128 - 42,255,188	EPDNEW

RGD ID:

6795532

Promoter ID:

HG_KWN:30078

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

K562, Lymphoblastoid

Transcripts:

UC002OTD.2

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	19	47,445,646 - 47,446,146 (-)	MPROMDB

RGD ID:

6811566

Promoter ID:

HG_ACW:41676

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, HeLa_S3, K562, Lymphoblastoid, NB4

Transcripts:

ERFANDGSK3A.FAPR07, ERFANDGSK3A.OAPR07

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	19	47,449,416 - 47,450,517 (-)	MPROMDB

RGD ID:

6795531

Promoter ID:

HG_KWN:30079

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

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

Transcripts:

NM_006494

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	19	47,450,816 - 47,451,316 (-)	MPROMDB

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_006494.4(ERF):c.1244C>T (p.Ala415Val)	single nucleotide variant	Craniosynostosis 1 [RCV000546427]	Chr19:42248868 [GRCh38] Chr19:42753020 [GRCh37] Chr19:19q13.2	benign
NM_006494.4(ERF):c.1263G>C (p.Pro421=)	single nucleotide variant	Craniosynostosis 1 [RCV000558684]	Chr19:42248849 [GRCh38] Chr19:42753001 [GRCh37] Chr19:19q13.2	likely benign
NM_006494.4(ERF):c.1636C>T (p.Arg546Ter)	single nucleotide variant	Atrial septal defect [RCV000735402]	Chr19:42248476 [GRCh38] Chr19:42752628 [GRCh37] Chr19:19q13.2	uncertain significance
NM_006494.4(ERF):c.1104T>C (p.Ser368=)	single nucleotide variant	Craniosynostosis 1 [RCV000559615]	Chr19:42249008 [GRCh38] Chr19:42753160 [GRCh37] Chr19:19q13.2	benign
NM_006494.4(ERF):c.547C>T (p.Arg183Ter)	single nucleotide variant	Craniosynostosis 1 [RCV000534904]\|Craniosynostosis 4 [RCV000049336]\|Craniosynostosis 4 [RCV000763434]	Chr19:42249565 [GRCh38] Chr19:42753717 [GRCh37] Chr19:19q13.2	pathogenic
NM_006494.4(ERF):c.891_892del (p.Gly299fs)	deletion	Craniosynostosis 1 [RCV000794846]\|Craniosynostosis 4 [RCV000049337]\|Inborn genetic diseases [RCV001267114]	Chr19:42249220..42249221 [GRCh38] Chr19:42753372..42753373 [GRCh37] Chr19:19q13.2	pathogenic\|likely pathogenic
NM_006494.4(ERF):c.256C>T (p.Arg86Cys)	single nucleotide variant	Craniosynostosis 1 [RCV001060076]\|Craniosynostosis 4 [RCV000049338]\|not provided [RCV000305113]	Chr19:42250332 [GRCh38] Chr19:42754484 [GRCh37] Chr19:19q13.2	pathogenic
NM_006494.4(ERF):c.194G>A (p.Arg65Gln)	single nucleotide variant	Craniosynostosis 4 [RCV000049339]	Chr19:42250394 [GRCh38] Chr19:42754546 [GRCh37] Chr19:19q13.2	pathogenic
NM_006494.4(ERF):c.1270C>T (p.Gln424Ter)	single nucleotide variant	Craniosynostosis 4 [RCV000049340]	Chr19:42248842 [GRCh38] Chr19:42752994 [GRCh37] Chr19:19q13.2	pathogenic
GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	copy number gain	See cases [RCV000050636]	Chr19:37319377..42738688 [GRCh38] Chr19:37810279..43242840 [GRCh37] Chr19:42502119..47934680 [NCBI36] Chr19:19q13.12-13.2	pathogenic
GRCh38/hg38 19q13.2-13.31(chr19:41930894-43141456)x1	copy number loss	See cases [RCV000053975]	Chr19:41930894..43141456 [GRCh38] Chr19:42514712..43645608 [GRCh37] Chr19:47126886..48337448 [NCBI36] Chr19:19q13.2-13.31	pathogenic
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	copy number gain	See cases [RCV000133888]	Chr19:11227942..44626354 [GRCh38] Chr19:11338618..45129651 [GRCh37] Chr19:11199618..49821491 [NCBI36] Chr19:19p13.2-q13.31	pathogenic
NM_006494.4(ERF):c.619C>T (p.Arg207Ter)	single nucleotide variant	Craniosynostosis 1 [RCV000547799]\|Inborn genetic diseases [RCV001265995]	Chr19:42249493 [GRCh38] Chr19:42753645 [GRCh37] Chr19:19q13.2	pathogenic
NM_006494.4(ERF):c.266A>G (p.Tyr89Cys)	single nucleotide variant	Chitayat syndrome [RCV000258152]\|not provided [RCV000481720]	Chr19:42249934 [GRCh38] Chr19:42754086 [GRCh37] Chr19:19q13.2	pathogenic\|likely pathogenic\|not provided
NM_006494.4(ERF):c.23-2A>G	single nucleotide variant	Craniosynostosis 4 [RCV000203301]	Chr19:42250567 [GRCh38] Chr19:42754719 [GRCh37] Chr19:19q13.2	pathogenic
NM_006494.4(ERF):c.1A>G (p.Met1Val)	single nucleotide variant	Craniosynostosis 4 [RCV000203306]	Chr19:42254999 [GRCh38] Chr19:42759151 [GRCh37] Chr19:19q13.2	pathogenic
NM_006494.4(ERF):c.1569del (p.Leu525fs)	deletion	not provided [RCV000521416]	Chr19:42248543 [GRCh38] Chr19:42752695 [GRCh37] Chr19:19q13.2	uncertain significance
NM_006494.4(ERF):c.397_407del (p.Pro133fs)	deletion	not provided [RCV000728882]	Chr19:42249705..42249715 [GRCh38] Chr19:42753857..42753867 [GRCh37] Chr19:19q13.2	likely pathogenic
NM_006494.4(ERF):c.840G>A (p.Ser280=)	single nucleotide variant	not provided [RCV000536254]	Chr19:42249272 [GRCh38] Chr19:42753424 [GRCh37] Chr19:19q13.2	benign
NM_006494.4(ERF):c.1072_1073del (p.Pro358fs)	deletion	not provided [RCV000483897]	Chr19:42249039..42249040 [GRCh38] Chr19:42753191..42753192 [GRCh37] Chr19:19q13.2	likely pathogenic
NM_006494.4(ERF):c.1201_1202del (p.Lys401fs)	deletion	Craniosynostosis 4 [RCV001263207]\|not provided [RCV000485362]	Chr19:42248910..42248911 [GRCh38] Chr19:42753062..42753063 [GRCh37] Chr19:19q13.2	pathogenic\|likely pathogenic
NM_006494.4(ERF):c.247C>T (p.Arg83Trp)	single nucleotide variant	not specified [RCV000501328]	Chr19:42250341 [GRCh38] Chr19:42754493 [GRCh37] Chr19:19q13.2	uncertain significance
NM_006494.4(ERF):c.885C>T (p.Ser295=)	single nucleotide variant	not provided [RCV000917405]\|not specified [RCV000504381]	Chr19:42249227 [GRCh38] Chr19:42753379 [GRCh37] Chr19:19q13.2	likely benign
NM_006494.4(ERF):c.733del (p.Leu245fs)	deletion	Craniosynostosis 1 [RCV000528500]	Chr19:42249379 [GRCh38] Chr19:42753531 [GRCh37] Chr19:19q13.2	pathogenic
NM_006494.4(ERF):c.1104_1106TTC[3] (p.Ser373del)	microsatellite	Craniosynostosis 1 [RCV000533809]	Chr19:42248997..42248999 [GRCh38] Chr19:42753149..42753151 [GRCh37] Chr19:19q13.2	likely benign
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	copy number gain	See cases [RCV000511289]	Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43	pathogenic\|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	copy number gain	See cases [RCV000512296]	Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
NM_006494.4(ERF):c.785del (p.Pro262fs)	deletion	Inborn genetic diseases [RCV000624075]	Chr19:42249327 [GRCh38] Chr19:42753479 [GRCh37] Chr19:19q13.2	pathogenic
NM_006494.4(ERF):c.208C>T (p.Arg70Cys)	single nucleotide variant	Craniosynostosis 1 [RCV000653726]	Chr19:42250380 [GRCh38] Chr19:42754532 [GRCh37] Chr19:19q13.2	uncertain significance
NM_006494.4(ERF):c.1243_1245del (p.Ala415del)	deletion	Craniosynostosis 1 [RCV000653727]	Chr19:42248867..42248869 [GRCh38] Chr19:42753019..42753021 [GRCh37] Chr19:19q13.2	uncertain significance
NM_006494.4(ERF):c.405G>A (p.Val135=)	single nucleotide variant	not provided [RCV000653730]	Chr19:42249707 [GRCh38] Chr19:42753859 [GRCh37] Chr19:19q13.2	benign
NM_006494.4(ERF):c.264C>T (p.Tyr88=)	single nucleotide variant	Craniosynostosis 1 [RCV000653729]	Chr19:42249936 [GRCh38] Chr19:42754088 [GRCh37] Chr19:19q13.2	likely benign
NM_006494.4(ERF):c.566_567del (p.Asp188_Cys189insTer)	deletion	Craniosynostosis 1 [RCV000653728]\|Craniosynostosis 4 [RCV001254074]	Chr19:42249545..42249546 [GRCh38] Chr19:42753697..42753698 [GRCh37] Chr19:19q13.2	pathogenic
NM_006494.4(ERF):c.879del (p.Ser295fs)	deletion	not provided [RCV000514123]	Chr19:42249233 [GRCh38] Chr19:42753385 [GRCh37] Chr19:19q13.2	likely pathogenic
NM_006494.4(ERF):c.223C>T (p.Gln75Ter)	single nucleotide variant	Craniosynostosis 1 [RCV000706049]	Chr19:42250365 [GRCh38] Chr19:42754517 [GRCh37] Chr19:19q13.2	pathogenic
NM_006494.4(ERF):c.-44_22+11del	deletion	Craniosynostosis 1 [RCV000695296]	Chr19:42254967..42255043 [GRCh38] Chr19:42759119..42759195 [GRCh37] Chr19:19q13.2	pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3	copy number gain	not provided [RCV000752439]	Chr19:68029..59110290 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3	copy number gain	not provided [RCV000752444]	Chr19:260912..59097160 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
Single allele	duplication	Schizophrenia [RCV000754211]	Chr19:41608672..44315856 [GRCh38] Chr19:19q13.2-13.31	likely pathogenic
NM_006494.4(ERF):c.813G>A (p.Thr271=)	single nucleotide variant	not provided [RCV000938286]	Chr19:42249299 [GRCh38] Chr19:42753451 [GRCh37] Chr19:19q13.2	likely benign
NM_006494.4(ERF):c.257+8C>T	single nucleotide variant	Craniosynostosis 1 [RCV000878792]	Chr19:42250323 [GRCh38] Chr19:42754475 [GRCh37] Chr19:19q13.2	likely benign
NM_006494.4(ERF):c.24G>A (p.Gly8=)	single nucleotide variant	Craniosynostosis 1 [RCV000878791]	Chr19:42250564 [GRCh38] Chr19:42754716 [GRCh37] Chr19:19q13.2	benign
NM_006494.4(ERF):c.673C>T (p.Leu225=)	single nucleotide variant	not provided [RCV000878803]	Chr19:42249439 [GRCh38] Chr19:42753591 [GRCh37] Chr19:19q13.2	benign
NM_006494.4(ERF):c.276C>T (p.Arg92=)	single nucleotide variant	not provided [RCV000950566]	Chr19:42249924 [GRCh38] Chr19:42754076 [GRCh37] Chr19:19q13.2	likely benign
NM_006494.4(ERF):c.1046C>T (p.Pro349Leu)	single nucleotide variant	Craniosynostosis 1 [RCV000870527]	Chr19:42249066 [GRCh38] Chr19:42753218 [GRCh37] Chr19:19q13.2	benign
NM_006494.4(ERF):c.1192G>A (p.Gly398Ser)	single nucleotide variant	Craniosynostosis 1 [RCV000870883]	Chr19:42248920 [GRCh38] Chr19:42753072 [GRCh37] Chr19:19q13.2	benign
NM_006494.4(ERF):c.228G>A (p.Met76Ile)	single nucleotide variant	Multiple myeloma [RCV000984106]	Chr19:42250360 [GRCh38] Chr19:42754512 [GRCh37] Chr19:19q13.2	likely pathogenic
NM_006494.4(ERF):c.150G>A (p.Gly50=)	single nucleotide variant	not provided [RCV000898447]	Chr19:42250438 [GRCh38] Chr19:42754590 [GRCh37] Chr19:19q13.2	likely benign
NM_006494.4(ERF):c.659C>A (p.Pro220His)	single nucleotide variant	Craniosynostosis 1 [RCV000950889]	Chr19:42249453 [GRCh38] Chr19:42753605 [GRCh37] Chr19:19q13.2	likely benign
NM_006494.4(ERF):c.819C>T (p.Thr273=)	single nucleotide variant	not provided [RCV000972171]	Chr19:42249293 [GRCh38] Chr19:42753445 [GRCh37] Chr19:19q13.2	likely benign
NM_006494.4(ERF):c.1262C>T (p.Pro421Leu)	single nucleotide variant	Craniosynostosis 1 [RCV000983822]	Chr19:42248850 [GRCh38] Chr19:42753002 [GRCh37] Chr19:19q13.2	likely benign
NM_006494.4(ERF):c.285C>T (p.His95=)	single nucleotide variant	not provided [RCV000921819]	Chr19:42249915 [GRCh38] Chr19:42754067 [GRCh37] Chr19:19q13.2	likely benign
NM_006494.4(ERF):c.450C>T (p.Ser150=)	single nucleotide variant	Craniosynostosis 1 [RCV000900679]	Chr19:42249662 [GRCh38] Chr19:42753814 [GRCh37] Chr19:19q13.2	likely benign
NM_006494.4(ERF):c.247C>A (p.Arg83=)	single nucleotide variant	not provided [RCV000924400]	Chr19:42250341 [GRCh38] Chr19:42754493 [GRCh37] Chr19:19q13.2	likely benign
NM_006494.4(ERF):c.1404C>T (p.Pro468=)	single nucleotide variant	not provided [RCV000901769]	Chr19:42248708 [GRCh38] Chr19:42752860 [GRCh37] Chr19:19q13.2	likely benign
NM_006494.4(ERF):c.1614G>A (p.Thr538=)	single nucleotide variant	Craniosynostosis 1 [RCV000878677]	Chr19:42248498 [GRCh38] Chr19:42752650 [GRCh37] Chr19:19q13.2	benign
NM_006494.4(ERF):c.1527G>C (p.Glu509Asp)	single nucleotide variant	not provided [RCV000891552]	Chr19:42248585 [GRCh38] Chr19:42752737 [GRCh37] Chr19:19q13.2	benign
NM_006494.4(ERF):c.1300G>A (p.Glu434Lys)	single nucleotide variant	Craniosynostosis syndrome [RCV000985270]	Chr19:42248812 [GRCh38] Chr19:42752964 [GRCh37] Chr19:19q13.2	uncertain significance
NM_006494.4(ERF):c.286A>T (p.Lys96Ter)	single nucleotide variant	Craniosynostosis 4 [RCV000786998]	Chr19:42249914 [GRCh38] Chr19:42754066 [GRCh37] Chr19:19q13.2	likely pathogenic
GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	copy number gain	not provided [RCV000845733]	Chr19:28271106..49213832 [GRCh37] Chr19:19q11-13.33	pathogenic
NM_006494.4(ERF):c.1177del (p.Glu393fs)	deletion	not provided [RCV001008368]	Chr19:42248935 [GRCh38] Chr19:42753087 [GRCh37] Chr19:19q13.2	likely pathogenic
NM_006494.4(ERF):c.383T>G (p.Val128Gly)	single nucleotide variant	Craniosynostosis syndrome [RCV000985266]	Chr19:42249729 [GRCh38] Chr19:42753881 [GRCh37] Chr19:19q13.2	uncertain significance
NM_006494.4(ERF):c.1201A>G (p.Lys401Glu)	single nucleotide variant	Craniosynostosis 1 [RCV001211073]	Chr19:42248911 [GRCh38] Chr19:42753063 [GRCh37] Chr19:19q13.2	uncertain significance
NM_006494.4(ERF):c.748G>C (p.Val250Leu)	single nucleotide variant	Craniosynostosis 1 [RCV001222060]	Chr19:42249364 [GRCh38] Chr19:42753516 [GRCh37] Chr19:19q13.2	uncertain significance
NM_006494.4(ERF):c.427del (p.Arg143fs)	deletion	Craniosynostosis 1 [RCV001238393]	Chr19:42249685 [GRCh38] Chr19:42753837 [GRCh37] Chr19:19q13.2	pathogenic
NM_006494.4(ERF):c.1080C>T (p.Val360=)	single nucleotide variant	not provided [RCV000896302]	Chr19:42249032 [GRCh38] Chr19:42753184 [GRCh37] Chr19:19q13.2	likely benign
NM_006494.4(ERF):c.942G>A (p.Leu314=)	single nucleotide variant	not provided [RCV000954340]	Chr19:42249170 [GRCh38] Chr19:42753322 [GRCh37] Chr19:19q13.2	likely benign
NM_006494.4(ERF):c.280C>T (p.Leu94=)	single nucleotide variant	not provided [RCV000897778]	Chr19:42249920 [GRCh38] Chr19:42754072 [GRCh37] Chr19:19q13.2	likely benign
NM_006494.4(ERF):c.1263G>A (p.Pro421=)	single nucleotide variant	not provided [RCV000895843]	Chr19:42248849 [GRCh38] Chr19:42753001 [GRCh37] Chr19:19q13.2	likely benign
NM_006494.4(ERF):c.1478G>A (p.Arg493His)	single nucleotide variant	Craniosynostosis 1 [RCV001239113]	Chr19:42248634 [GRCh38] Chr19:42752786 [GRCh37] Chr19:19q13.2	uncertain significance
NM_006494.4(ERF):c.257G>A (p.Arg86His)	single nucleotide variant	Craniosynostosis 1 [RCV001217172]	Chr19:42250331 [GRCh38] Chr19:42754483 [GRCh37] Chr19:19q13.2	uncertain significance
NM_006494.4(ERF):c.144G>A (p.Trp48Ter)	single nucleotide variant	Craniosynostosis 1 [RCV001205291]	Chr19:42250444 [GRCh38] Chr19:42754596 [GRCh37] Chr19:19q13.2	pathogenic
NM_006494.4(ERF):c.532G>C (p.Ala178Pro)	single nucleotide variant	Craniosynostosis 1 [RCV001061649]	Chr19:42249580 [GRCh38] Chr19:42753732 [GRCh37] Chr19:19q13.2	uncertain significance
NM_006494.4(ERF):c.1049del (p.Leu350fs)	deletion	Craniosynostosis 4 [RCV001254631]	Chr19:42249063 [GRCh38] Chr19:42753215 [GRCh37] Chr19:19q13.2	likely pathogenic
NM_006494.4(ERF):c.1057A>G (p.Met353Val)	single nucleotide variant	not provided [RCV001257182]	Chr19:42249055 [GRCh38] Chr19:42753207 [GRCh37] Chr19:19q13.2	likely benign
NM_006494.4(ERF):c.697C>T (p.Arg233Ter)	single nucleotide variant	Inborn genetic diseases [RCV001266260]	Chr19:42249415 [GRCh38] Chr19:42753567 [GRCh37] Chr19:19q13.2	pathogenic
NM_006494.4(ERF):c.248G>A (p.Arg83Gln)	single nucleotide variant	Inborn genetic diseases [RCV001266171]	Chr19:42250340 [GRCh38] Chr19:42754492 [GRCh37] Chr19:19q13.2	uncertain significance

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:3444	AgrOrtholog
COSMIC	ERF	COSMIC
Ensembl Genes	ENSG00000105722	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein	ENSP00000222329	ENTREZGENE, UniProtKB/Swiss-Prot
	ENSP00000388173	ENTREZGENE, UniProtKB/Swiss-Prot
	ENSP00000468962	UniProtKB/TrEMBL
	ENSP00000469274	UniProtKB/TrEMBL
Ensembl Transcript	ENST00000222329	ENTREZGENE, UniProtKB/Swiss-Prot
	ENST00000440177	ENTREZGENE, UniProtKB/Swiss-Prot
	ENST00000593944	UniProtKB/TrEMBL
	ENST00000598965	UniProtKB/TrEMBL
Gene3D-CATH	1.10.10.10	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000105722	GTEx
HGNC ID	HGNC:3444	ENTREZGENE
Human Proteome Map	ERF	Human Proteome Map
InterPro	ERF	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Ets_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	WH-like_DNA-bd_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	WH_DNA-bd_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:2077	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene	2077	ENTREZGENE
OMIM	600775	OMIM
	611888	OMIM
	617180	OMIM
PANTHER	PTHR11849:SF31	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	Ets	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA27857	PharmGKB
PRINTS	ETSDOMAIN	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE	ETS_DOMAIN_1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ETS_DOMAIN_2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ETS_DOMAIN_3	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	ETS	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	SSF46785	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A0A024R0L4	ENTREZGENE, UniProtKB/TrEMBL
	ERF_HUMAN	UniProtKB/Swiss-Prot
	M0QX79_HUMAN	UniProtKB/TrEMBL
	M0QXN0_HUMAN	UniProtKB/TrEMBL
	P50548	ENTREZGENE
UniProt Secondary	B2RAP1	UniProtKB/Swiss-Prot
	B7Z4R0	UniProtKB/Swiss-Prot
	Q59G38	UniProtKB/Swiss-Prot
	Q9UPI7	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-02-29	ERF	ETS2 repressor factor		Ets2 repressor factor	Symbol and/or name change	5135510	APPROVED
2011-08-17	ERF	Ets2 repressor factor	ERF	Ets2 repressor factor	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)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM