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Gene: ZNF442 (zinc finger protein 442) Homo sapiens

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Symbol:

ZNF442

Name:

zinc finger protein 442

RGD ID:

1353255

HGNC Page

HGNC:20877

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. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in nucleus.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

FLJ14356

RGD Orthologs

Mouse

Green Monkey

Alliance Orthologs

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	19	12,345,944 - 12,373,779 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	19	12,345,944 - 12,365,905 (-)	Ensembl		GRCh38.p14 Ensembl	hg38	GRCh38
GRCh37	19	12,456,758 - 12,476,497 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	19	12,321,185 - 12,337,475 (-)	NCBI	Build 36	Build 36	hg18	NCBI36
Build 34	19	12,321,184 - 12,337,447	NCBI
Celera	19	12,354,010 - 12,370,301 (-)	NCBI		Celera
Cytogenetic Map	19	p13.2	NCBI
HuRef	19	12,035,169 - 12,050,816 (-)	NCBI		HuRef
CHM1_1	19	12,460,464 - 12,476,754 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	19	12,474,291 - 12,502,125 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

ovarian serous cystadenocarcinoma (IAGP)

sarcoma (IAGP)

uterine corpus endometrial carcinoma (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(+)-catechin (EXP)

(-)-epigallocatechin 3-gallate (EXP)

3-phenylprop-2-enal (EXP)

4-hydroxyphenyl retinamide (ISO)

acrylamide (EXP)

aflatoxin B1 (EXP)

aristolochic acid A (EXP)

benzo[a]pyrene (EXP)

cyclosporin A (EXP)

doxorubicin (EXP)

leflunomide (EXP)

okadaic acid (EXP)

potassium chromate (EXP)

resorcinol (EXP)

resveratrol (EXP)

sunitinib (EXP)

urethane (EXP)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

regulation of DNA-templated transcription (IEA)

regulation of transcription by RNA polymerase II (IBA)

Cellular Component

nucleus (IBA,IEA)

Molecular Function

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

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

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Sarcoma (IAGP)

Thymoma (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:12477932	PMID:14702039	PMID:16344560	PMID:21873635	PMID:30021884	PMID:31182584

Genomics

Comparative Map Data

ZNF442
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	19	12,345,944 - 12,373,779 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	19	12,345,944 - 12,365,905 (-)	Ensembl		GRCh38.p14 Ensembl	hg38	GRCh38
GRCh37	19	12,456,758 - 12,476,497 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	19	12,321,185 - 12,337,475 (-)	NCBI	Build 36	Build 36	hg18	NCBI36
Build 34	19	12,321,184 - 12,337,447	NCBI
Celera	19	12,354,010 - 12,370,301 (-)	NCBI		Celera
Cytogenetic Map	19	p13.2	NCBI
HuRef	19	12,035,169 - 12,050,816 (-)	NCBI		HuRef
CHM1_1	19	12,460,464 - 12,476,754 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	19	12,474,291 - 12,502,125 (-)	NCBI		T2T-CHM13v2.0

Gm2026
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	2	175,757,045 - 175,778,388 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	2	175,757,124 - 175,772,096 (+)	Ensembl		GRCm39 Ensembl		GRCm39
GRCm38	2	175,965,250 - 175,981,734 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	2	175,965,331 - 175,980,303 (+)	Ensembl		GRCm38.p6 Ensembl	mm10	GRCm38
GRCm38.p6 Ensembl	2	175,321,955 - 175,338,197 (-)	Ensembl		GRCm38.p6 Ensembl	mm10	GRCm38
MGSCv37	2	175,964,487 - 175,980,866 (+)	NCBI	MGSCv37	MGSCv37	mm9	NCBIm37
MGSCv36	2	175,964,482 - 175,979,034 (+)	NCBI		MGSCv36	mm8
Cytogenetic Map	2	H4	NCBI
cM Map	2	98.76	NCBI

LOC103233971
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
mChlSab1.0.hap1	6	50,375,237 - 50,411,703 (+)	NCBI		mChlSab1.0.hap1
Vero_WHO_p1.0	NW_023666074	8,624,278 - 8,666,330 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0
ChlSab1.1	6	11,131,675 - 11,182,111 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2

Variants

Variants in ZNF442
64 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	copy number gain	Developmental delay AND/OR other significant developmental or morphological phenotypes [RCV000052908]	Chr19:19p13.2-13.13	likely pathogenic
GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3	copy number gain	Developmental delay AND/OR other significant developmental or morphological phenotypes [RCV000052909]	Chr19:19p13.2-13.12	pathogenic
GRCh38/hg38 19p13.2-13.12(chr19:12132052-14751798)x3	copy number gain	See cases [RCV000052910]	Chr19:19p13.2-13.12	pathogenic
GRCh38/hg38 19p13.2-13.12(chr19:11227942-14532135)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053944]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053944]\|See cases [RCV000053944]	Chr19:11227942..14532135 [GRCh38] Chr19:11338618..14642947 [GRCh37] Chr19:11199618..14503947 [NCBI36] Chr19:19p13.2-13.12	pathogenic
GRCh38/hg38 19p13.2-13.13(chr19:11517825-13225287)x1	copy number loss	Episodic vomiting [RCV000053945]	Chr19:19p13.2-13.13	pathogenic
NM_030824.2(ZNF442):c.79G>A (p.Asp27Asn)	single nucleotide variant	Malignant melanoma [RCV000071934]	Chr19:12353114 [GRCh38] Chr19:12463928 [GRCh37] Chr19:12324928 [NCBI36] Chr19:19p13.2	not provided
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	copy number gain	Developmental delay AND/OR other significant developmental or morphological phenotypes [RCV000133888]	Chr19:19p13.2-q13.31	pathogenic
GRCh38/hg38 19p13.2-13.12(chr19:11525163-14155021)x1	copy number loss	Developmental delay AND/OR other significant developmental or morphological phenotypes [RCV000136909]	Chr19:19p13.2-13.12	pathogenic
GRCh38/hg38 19p13.2-13.13(chr19:12357905-12768046)x1	copy number loss	See cases [RCV000141814]	Chr19:19p13.2-13.13	uncertain significance
GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1	copy number loss	Developmental delay AND/OR other significant developmental or morphological phenotypes [RCV000141568]	Chr19:19p13.2-13.13	pathogenic
GRCh37/hg19 19p13.2(chr19:12204632-13497073)x1	copy number loss	See cases [RCV000449161]	Chr19:19p13.2	pathogenic
NM_030824.3(ZNF442):c.1207G>A (p.Gly403Arg)	single nucleotide variant	not specified [RCV004308437]	Chr19:12350378 [GRCh38] Chr19:12461192 [GRCh37] Chr19:19p13.2	uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	copy number gain	Ventricular septal defect [RCV000511289]	Chr19:19p13.3-q13.43	pathogenic\|uncertain significance
NM_030824.3(ZNF442):c.764A>T (p.His255Leu)	single nucleotide variant	not specified [RCV004314282]	Chr19:12350821 [GRCh38] Chr19:12461635 [GRCh37] Chr19:19p13.2	uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	copy number gain	Abnormality of the ear [RCV000512296]	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
GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426)	copy number gain	Developmental delay AND/OR other significant developmental or morphological phenotypes [RCV000446985]	Chr19:19p13.2-13.12	pathogenic
GRCh37/hg19 19p13.2-13.12(chr19:11608072-14543046)x3	copy number gain	See cases [RCV000511013]	Chr19:19p13.2-13.12	uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3	copy number gain	not provided [RCV000752439]	Chr19:68029..59110290 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
Single allele	deletion	Hypertonia [RCV000844961]	Chr19:19p13.2	not provided
GRCh37/hg19 19p13.2(chr19:12354642-13424014)x1	copy number loss	not provided [RCV000846538]	Chr19:19p13.2	pathogenic
GRCh37/hg19 19p13.2(chr19:10642984-12810067)	copy number loss	Depressivity [RCV001249213]	Chr19:19p13.2	not provided
NC_000019.9:g.(?_11277234)_(13249220_?)dup	duplication	not provided [RCV003105511]	Chr19:19p13.2	uncertain significance
NM_030824.3(ZNF442):c.935A>G (p.Glu312Gly)	single nucleotide variant	not specified [RCV004291792]	Chr19:12350650 [GRCh38] Chr19:12461464 [GRCh37] Chr19:19p13.2	uncertain significance
GRCh37/hg19 19p13.2(chr19:12343654-12519924)x1	copy number loss	not provided [RCV001259372]	Chr19:19p13.2	likely benign
NC_000019.9:g.(?_10828919)_(13482613_?)dup	duplication	Developmental and epileptic encephalopathy, 42 [RCV003109234]	Chr19:19p13.2	uncertain significance
NM_030824.3(ZNF442):c.263T>C (p.Leu88Pro)	single nucleotide variant	not specified [RCV004309801]	Chr19:12352013 [GRCh38] Chr19:12462827 [GRCh37] Chr19:19p13.2	uncertain significance
NM_030824.3(ZNF442):c.1087T>G (p.Ser363Ala)	single nucleotide variant	not specified [RCV004305860]	Chr19:12350498 [GRCh38] Chr19:12461312 [GRCh37] Chr19:19p13.2	uncertain significance
NM_030824.3(ZNF442):c.515A>G (p.Glu172Gly)	single nucleotide variant	not specified [RCV004236875]	Chr19:12351070 [GRCh38] Chr19:12461884 [GRCh37] Chr19:19p13.2	uncertain significance
NM_030824.3(ZNF442):c.710A>G (p.Tyr237Cys)	single nucleotide variant	not specified [RCV004210799]	Chr19:12350875 [GRCh38] Chr19:12461689 [GRCh37] Chr19:19p13.2	uncertain significance
NM_030824.3(ZNF442):c.143C>T (p.Pro48Leu)	single nucleotide variant	not specified [RCV004101102]	Chr19:12353050 [GRCh38] Chr19:12463864 [GRCh37] Chr19:19p13.2	uncertain significance
NM_030824.3(ZNF442):c.1733G>A (p.Gly578Asp)	single nucleotide variant	not specified [RCV004106768]	Chr19:12349852 [GRCh38] Chr19:12460666 [GRCh37] Chr19:19p13.2	uncertain significance
NM_030824.3(ZNF442):c.1748G>A (p.Arg583His)	single nucleotide variant	not specified [RCV004139930]	Chr19:12349837 [GRCh38] Chr19:12460651 [GRCh37] Chr19:19p13.2	uncertain significance
NM_030824.3(ZNF442):c.962A>G (p.Tyr321Cys)	single nucleotide variant	not specified [RCV004118277]	Chr19:12350623 [GRCh38] Chr19:12461437 [GRCh37] Chr19:19p13.2	uncertain significance
NM_030824.3(ZNF442):c.1615A>T (p.Thr539Ser)	single nucleotide variant	not specified [RCV004153312]	Chr19:12349970 [GRCh38] Chr19:12460784 [GRCh37] Chr19:19p13.2	likely benign
NM_030824.3(ZNF442):c.940A>C (p.Thr314Pro)	single nucleotide variant	not specified [RCV004140537]	Chr19:12350645 [GRCh38] Chr19:12461459 [GRCh37] Chr19:19p13.2	uncertain significance
NM_030824.3(ZNF442):c.547T>C (p.Cys183Arg)	single nucleotide variant	not specified [RCV004134024]	Chr19:12351038 [GRCh38] Chr19:12461852 [GRCh37] Chr19:19p13.2	uncertain significance
NM_030824.3(ZNF442):c.1025G>T (p.Arg342Met)	single nucleotide variant	not specified [RCV004079477]	Chr19:12350560 [GRCh38] Chr19:12461374 [GRCh37] Chr19:19p13.2	uncertain significance
NM_030824.3(ZNF442):c.1033G>A (p.Gly345Arg)	single nucleotide variant	not specified [RCV004079478]	Chr19:12350552 [GRCh38] Chr19:12461366 [GRCh37] Chr19:19p13.2	uncertain significance
NM_030824.3(ZNF442):c.1799A>G (p.His600Arg)	single nucleotide variant	not specified [RCV004082244]	Chr19:12349786 [GRCh38] Chr19:12460600 [GRCh37] Chr19:19p13.2	uncertain significance
NM_030824.3(ZNF442):c.1747C>T (p.Arg583Cys)	single nucleotide variant	not specified [RCV004210875]	Chr19:12349838 [GRCh38] Chr19:12460652 [GRCh37] Chr19:19p13.2	uncertain significance
NM_030824.3(ZNF442):c.1162C>T (p.His388Tyr)	single nucleotide variant	not specified [RCV004167912]	Chr19:12350423 [GRCh38] Chr19:12461237 [GRCh37] Chr19:19p13.2	uncertain significance
NM_030824.3(ZNF442):c.1021A>G (p.Ile341Val)	single nucleotide variant	not specified [RCV004079476]	Chr19:12350564 [GRCh38] Chr19:12461378 [GRCh37] Chr19:19p13.2	uncertain significance
NM_030824.3(ZNF442):c.1210C>T (p.Pro404Ser)	single nucleotide variant	not specified [RCV004179490]	Chr19:12350375 [GRCh38] Chr19:12461189 [GRCh37] Chr19:19p13.2	uncertain significance
NM_030824.3(ZNF442):c.145T>C (p.Ser49Pro)	single nucleotide variant	not specified [RCV004212425]	Chr19:12353048 [GRCh38] Chr19:12463862 [GRCh37] Chr19:19p13.2	uncertain significance
NM_030824.3(ZNF442):c.538C>T (p.Arg180Cys)	single nucleotide variant	not specified [RCV004236255]	Chr19:12351047 [GRCh38] Chr19:12461861 [GRCh37] Chr19:19p13.2	uncertain significance
NM_030824.3(ZNF442):c.364G>A (p.Gly122Arg)	single nucleotide variant	not specified [RCV006359765]	Chr19:12351221 [GRCh38] Chr19:12462035 [GRCh37] Chr19:19p13.2	uncertain significance
NM_030824.3(ZNF442):c.595C>A (p.His199Asn)	single nucleotide variant	not specified [RCV006359774]	Chr19:12350990 [GRCh38] Chr19:12461804 [GRCh37] Chr19:19p13.2	uncertain significance
NM_030824.3(ZNF442):c.733G>T (p.Ala245Ser)	single nucleotide variant	not specified [RCV004270079]	Chr19:12350852 [GRCh38] Chr19:12461666 [GRCh37] Chr19:19p13.2	uncertain significance
NM_030824.3(ZNF442):c.104C>T (p.Ala35Val)	single nucleotide variant	not specified [RCV004250088]	Chr19:12353089 [GRCh38] Chr19:12463903 [GRCh37] Chr19:19p13.2	uncertain significance
NM_030824.3(ZNF442):c.950G>C (p.Gly317Ala)	single nucleotide variant	not specified [RCV004273828]	Chr19:12350635 [GRCh38] Chr19:12461449 [GRCh37] Chr19:19p13.2	uncertain significance
NM_030824.3(ZNF442):c.1127C>T (p.Pro376Leu)	single nucleotide variant	not specified [RCV004269600]	Chr19:12350458 [GRCh38] Chr19:12461272 [GRCh37] Chr19:19p13.2	uncertain significance
NM_030824.3(ZNF442):c.1470T>G (p.Cys490Trp)	single nucleotide variant	not specified [RCV006359769]	Chr19:12350115 [GRCh38] Chr19:12460929 [GRCh37] Chr19:19p13.2	uncertain significance
NM_030824.3(ZNF442):c.1495T>C (p.Cys499Arg)	single nucleotide variant	not specified [RCV006359772]	Chr19:12350090 [GRCh38] Chr19:12460904 [GRCh37] Chr19:19p13.2	uncertain significance
NM_030824.3(ZNF442):c.1631A>G (p.Tyr544Cys)	single nucleotide variant	not specified [RCV006359773]	Chr19:12349954 [GRCh38] Chr19:12460768 [GRCh37] Chr19:19p13.2	uncertain significance
NM_030824.3(ZNF442):c.424C>T (p.Pro142Ser)	single nucleotide variant	not specified [RCV006359766]	Chr19:12351161 [GRCh38] Chr19:12461975 [GRCh37] Chr19:19p13.2	uncertain significance
NM_030824.3(ZNF442):c.1837A>C (p.Ser613Arg)	single nucleotide variant	not specified [RCV006359767]	Chr19:12349748 [GRCh38] Chr19:12460562 [GRCh37] Chr19:19p13.2	uncertain significance
NM_030824.3(ZNF442):c.1171A>C (p.Ser391Arg)	single nucleotide variant	not specified [RCV006359770]	Chr19:12350414 [GRCh38] Chr19:12461228 [GRCh37] Chr19:19p13.2	uncertain significance
NM_030824.3(ZNF442):c.1526C>A (p.Thr509Asn)	single nucleotide variant	not specified [RCV006359771]	Chr19:12350059 [GRCh38] Chr19:12460873 [GRCh37] Chr19:19p13.2	uncertain significance
NM_030824.3(ZNF442):c.875C>T (p.Pro292Leu)	single nucleotide variant	not specified [RCV005783004]	Chr19:12350710 [GRCh38] Chr19:12461524 [GRCh37] Chr19:19p13.2	uncertain significance
NM_030824.3(ZNF442):c.-482-123C>G	single nucleotide variant	Uterine corpus endometrial carcinoma [RCV006131480]	Chr19:12365366 [GRCh38] Chr19:12476180 [GRCh37] Chr19:19p13.2	evidence_only
NM_030824.3(ZNF442):c.812C>G (p.Ser271Cys)	single nucleotide variant	not specified [RCV005528481]	Chr19:12350773 [GRCh38] Chr19:12461587 [GRCh37] Chr19:19p13.2	uncertain significance
NM_030824.3(ZNF442):c.1712C>T (p.Ser571Phe)	single nucleotide variant	not specified [RCV005528477]	Chr19:12349873 [GRCh38] Chr19:12460687 [GRCh37] Chr19:19p13.2	uncertain significance
NM_030824.3(ZNF442):c.1763G>A (p.Arg588Gln)	single nucleotide variant	not specified [RCV005783001]	Chr19:12349822 [GRCh38] Chr19:12460636 [GRCh37] Chr19:19p13.2	uncertain significance
NM_030824.3(ZNF442):c.1143G>T (p.Gln381His)	single nucleotide variant	not specified [RCV005771683]	Chr19:12350442 [GRCh38] Chr19:12461256 [GRCh37] Chr19:19p13.2	uncertain significance
NM_030824.3(ZNF442):c.443A>T (p.Tyr148Phe)	single nucleotide variant	not specified [RCV005771684]	Chr19:12351142 [GRCh38] Chr19:12461956 [GRCh37] Chr19:19p13.2	uncertain significance
NM_030824.3(ZNF442):c.649G>A (p.Ala217Thr)	single nucleotide variant	not specified [RCV005783002]	Chr19:12350936 [GRCh38] Chr19:12461750 [GRCh37] Chr19:19p13.2	uncertain significance
NM_030824.3(ZNF442):c.1720T>C (p.Cys574Arg)	single nucleotide variant	not specified [RCV005771682]	Chr19:12349865 [GRCh38] Chr19:12460679 [GRCh37] Chr19:19p13.2	uncertain significance
NM_030824.3(ZNF442):c.917G>A (p.Ser306Asn)	single nucleotide variant	not specified [RCV004355218]	Chr19:12350668 [GRCh38] Chr19:12461482 [GRCh37] Chr19:19p13.2	uncertain significance
GRCh38/hg38 19p13.2-13.13(chr19:12322705-12709406)x3	copy number gain	not provided [RCV006605566]	Chr19:19p13.2-13.13	uncertain significance
NM_030824.3(ZNF442):c.-482-26A>T	single nucleotide variant	Ovarian serous cystadenocarcinoma [RCV006131476]	Chr19:12365269 [GRCh38] Chr19:12476083 [GRCh37] Chr19:19p13.2	evidence_only
NM_030824.3(ZNF442):c.1030A>C (p.Thr344Pro)	single nucleotide variant	not specified [RCV004365006]	Chr19:12350555 [GRCh38] Chr19:12461369 [GRCh37] Chr19:19p13.2	uncertain significance
NM_030824.3(ZNF442):c.1243A>G (p.Ile415Val)	single nucleotide variant	not specified [RCV004350993]	Chr19:12350342 [GRCh38] Chr19:12461156 [GRCh37] Chr19:19p13.2	likely benign
GRCh37/hg19 19p13.2(chr19:12281048-13573342)x3	copy number gain	not provided [RCV003485193]	Chr19:19p13.2	likely pathogenic
GRCh37/hg19 19p13.2(chr19:10441330-13077352)x1	copy number loss	not specified [RCV003986120]	Chr19:19p13.2	pathogenic
NM_030824.3(ZNF442):c.1277C>T (p.Thr426Ile)	single nucleotide variant	not specified [RCV004489614]	Chr19:12350308 [GRCh38] Chr19:12461122 [GRCh37] Chr19:19p13.2	uncertain significance
NM_030824.3(ZNF442):c.307G>C (p.Asp103His)	single nucleotide variant	not specified [RCV004489620]	Chr19:12351278 [GRCh38] Chr19:12462092 [GRCh37] Chr19:19p13.2	uncertain significance
NM_030824.3(ZNF442):c.395G>T (p.Cys132Phe)	single nucleotide variant	not specified [RCV004489622]	Chr19:12351190 [GRCh38] Chr19:12462004 [GRCh37] Chr19:19p13.2	uncertain significance
NM_030824.3(ZNF442):c.1864C>T (p.His622Tyr)	single nucleotide variant	not specified [RCV004489618]	Chr19:12349721 [GRCh38] Chr19:12460535 [GRCh37] Chr19:19p13.2	uncertain significance
NM_030824.3(ZNF442):c.299G>T (p.Arg100Leu)	single nucleotide variant	not specified [RCV004489619]	Chr19:12351286 [GRCh38] Chr19:12462100 [GRCh37] Chr19:19p13.2	uncertain significance
NM_030824.3(ZNF442):c.604G>A (p.Val202Ile)	single nucleotide variant	not specified [RCV004489623]	Chr19:12350981 [GRCh38] Chr19:12461795 [GRCh37] Chr19:19p13.2	uncertain significance
NM_030824.3(ZNF442):c.1342C>A (p.Leu448Ile)	single nucleotide variant	not specified [RCV004489615]	Chr19:12350243 [GRCh38] Chr19:12461057 [GRCh37] Chr19:19p13.2	uncertain significance
NM_030824.3(ZNF442):c.40C>T (p.Leu14Phe)	single nucleotide variant	not specified [RCV004689319]	Chr19:12363592 [GRCh38] Chr19:12474406 [GRCh37] Chr19:19p13.2	uncertain significance
NM_030824.3(ZNF442):c.1743C>A (p.Phe581Leu)	single nucleotide variant	not specified [RCV004689320]	Chr19:12349842 [GRCh38] Chr19:12460656 [GRCh37] Chr19:19p13.2	uncertain significance
NM_030824.3(ZNF442):c.1874A>G (p.Asp625Gly)	single nucleotide variant	not specified [RCV004689321]	Chr19:12349711 [GRCh38] Chr19:12460525 [GRCh37] Chr19:19p13.2	uncertain significance
NM_030824.3(ZNF442):c.1685A>G (p.His562Arg)	single nucleotide variant	not specified [RCV004689318]	Chr19:12349900 [GRCh38] Chr19:12460714 [GRCh37] Chr19:19p13.2	uncertain significance
NM_030824.3(ZNF442):c.764A>G (p.His255Arg)	single nucleotide variant	not specified [RCV004889065]	Chr19:12350821 [GRCh38] Chr19:12461635 [GRCh37] Chr19:19p13.2	uncertain significance
NM_030824.3(ZNF442):c.611G>A (p.Arg204His)	single nucleotide variant	not specified [RCV004889066]	Chr19:12350974 [GRCh38] Chr19:12461788 [GRCh37] Chr19:19p13.2	uncertain significance
NM_030824.3(ZNF442):c.248A>C (p.Asn83Thr)	single nucleotide variant	not specified [RCV004889067]	Chr19:12352028 [GRCh38] Chr19:12462842 [GRCh37] Chr19:19p13.2	uncertain significance
NM_030824.3(ZNF442):c.1646G>T (p.Cys549Phe)	single nucleotide variant	not specified [RCV005309136]	Chr19:12349939 [GRCh38] Chr19:12460753 [GRCh37] Chr19:19p13.2	uncertain significance
NM_030824.3(ZNF442):c.1702G>A (p.Gly568Arg)	single nucleotide variant	not specified [RCV005309135]	Chr19:12349883 [GRCh38] Chr19:12460697 [GRCh37] Chr19:19p13.2	uncertain significance
NM_030824.3(ZNF442):c.881A>C (p.Lys294Thr)	single nucleotide variant	not specified [RCV005309137]	Chr19:12350704 [GRCh38] Chr19:12461518 [GRCh37] Chr19:19p13.2	uncertain significance
NM_030824.3(ZNF442):c.695C>G (p.Thr232Ser)	single nucleotide variant	not specified [RCV005309134]	Chr19:12350890 [GRCh38] Chr19:12461704 [GRCh37] Chr19:19p13.2	uncertain significance
NM_030824.3(ZNF442):c.265A>G (p.Arg89Gly)	single nucleotide variant	not specified [RCV005305374]	Chr19:12352011 [GRCh38] Chr19:12462825 [GRCh37] Chr19:19p13.2	uncertain significance
NM_030824.3(ZNF442):c.1729T>C (p.Cys577Arg)	single nucleotide variant	not specified [RCV005305375]	Chr19:12349856 [GRCh38] Chr19:12460670 [GRCh37] Chr19:19p13.2	uncertain significance
NM_030824.3(ZNF442):c.1386A>C (p.Lys462Asn)	single nucleotide variant	not specified [RCV005528479]	Chr19:12350199 [GRCh38] Chr19:12461013 [GRCh37] Chr19:19p13.2	uncertain significance
NM_030824.3(ZNF442):c.559G>A (p.Gly187Arg)	single nucleotide variant	not specified [RCV005528482]	Chr19:12351026 [GRCh38] Chr19:12461840 [GRCh37] Chr19:19p13.2	uncertain significance
NM_030824.3(ZNF442):c.1601A>G (p.His534Arg)	single nucleotide variant	not specified [RCV005528475]	Chr19:12349984 [GRCh38] Chr19:12460798 [GRCh37] Chr19:19p13.2	uncertain significance
NM_030824.3(ZNF442):c.1042C>G (p.Pro348Ala)	single nucleotide variant	not specified [RCV005528480]	Chr19:12350543 [GRCh38] Chr19:12461357 [GRCh37] Chr19:19p13.2	uncertain significance
NM_030824.3(ZNF442):c.839A>G (p.Tyr280Cys)	single nucleotide variant	not specified [RCV005528484]	Chr19:12350746 [GRCh38] Chr19:12461560 [GRCh37] Chr19:19p13.2	uncertain significance
NM_030824.3(ZNF442):c.979G>A (p.Gly327Arg)	single nucleotide variant	not specified [RCV005528483]	Chr19:12350606 [GRCh38] Chr19:12461420 [GRCh37] Chr19:19p13.2	uncertain significance
NM_030824.3(ZNF442):c.1309G>C (p.Glu437Gln)	single nucleotide variant	not specified [RCV005528476]	Chr19:12350276 [GRCh38] Chr19:12461090 [GRCh37] Chr19:19p13.2	uncertain significance
NM_030824.3(ZNF442):c.622C>T (p.Pro208Ser)	single nucleotide variant	not specified [RCV005528485]	Chr19:12350963 [GRCh38] Chr19:12461777 [GRCh37] Chr19:19p13.2	uncertain significance
NM_030824.3(ZNF442):c.1264G>A (p.Gly422Arg)	single nucleotide variant	Sarcoma [RCV006131469]	Chr19:12350321 [GRCh38] Chr19:12461135 [GRCh37] Chr19:19p13.2	evidence_only
NM_030824.3(ZNF442):c.604G>T (p.Val202Leu)	single nucleotide variant	not specified [RCV004252863]	Chr19:12350981 [GRCh38] Chr19:12461795 [GRCh37] Chr19:19p13.2	uncertain significance
NM_030824.3(ZNF442):c.785A>G (p.Glu262Gly)	single nucleotide variant	not specified [RCV004249080]	Chr19:12350800 [GRCh38] Chr19:12461614 [GRCh37] Chr19:19p13.2	uncertain significance
NM_030824.3(ZNF442):c.1311A>C (p.Glu437Asp)	single nucleotide variant	not specified [RCV006359768]	Chr19:12350274 [GRCh38] Chr19:12461088 [GRCh37] Chr19:19p13.2	uncertain significance
NM_030824.3(ZNF442):c.217G>T (p.Glu73Ter)	single nucleotide variant	Sarcoma [RCV006131475]	Chr19:12352059 [GRCh38] Chr19:12462873 [GRCh37] Chr19:19p13.2	evidence_only
NM_030824.3(ZNF442):c.517A>G (p.Arg173Gly)	single nucleotide variant	not specified [RCV004357282]	Chr19:12351068 [GRCh38] Chr19:12461882 [GRCh37] Chr19:19p13.2	uncertain significance
NM_030824.3(ZNF442):c.1558A>G (p.Thr520Ala)	single nucleotide variant	not specified [RCV004489617]	Chr19:12350027 [GRCh38] Chr19:12460841 [GRCh37] Chr19:19p13.2	uncertain significance
NM_030824.3(ZNF442):c.755A>G (p.Tyr252Cys)	single nucleotide variant	not specified [RCV004489624]	Chr19:12350830 [GRCh38] Chr19:12461644 [GRCh37] Chr19:19p13.2	uncertain significance
NM_030824.3(ZNF442):c.395G>A (p.Cys132Tyr)	single nucleotide variant	not specified [RCV004489621]	Chr19:12351190 [GRCh38] Chr19:12462004 [GRCh37] Chr19:19p13.2	uncertain significance
NM_030824.3(ZNF442):c.1166A>G (p.His389Arg)	single nucleotide variant	not specified [RCV004489613]	Chr19:12350419 [GRCh38] Chr19:12461233 [GRCh37] Chr19:19p13.2	likely benign
NM_030824.3(ZNF442):c.1408A>G (p.Ile470Val)	single nucleotide variant	not specified [RCV004489616]	Chr19:12350177 [GRCh38] Chr19:12460991 [GRCh37] Chr19:19p13.2	uncertain significance
NM_030824.3(ZNF442):c.373A>G (p.Met125Val)	single nucleotide variant	not specified [RCV004889064]	Chr19:12351212 [GRCh38] Chr19:12462026 [GRCh37] Chr19:19p13.2	uncertain significance
NM_030824.3(ZNF442):c.446G>A (p.Gly149Glu)	single nucleotide variant	not specified [RCV004889068]	Chr19:12351139 [GRCh38] Chr19:12461953 [GRCh37] Chr19:19p13.2	uncertain significance
NM_030824.3(ZNF442):c.370A>G (p.Ile124Val)	single nucleotide variant	not specified [RCV004889069]	Chr19:12351215 [GRCh38] Chr19:12462029 [GRCh37] Chr19:19p13.2	uncertain significance
NM_030824.3(ZNF442):c.503T>A (p.Phe168Tyr)	single nucleotide variant	not specified [RCV004889070]	Chr19:12351082 [GRCh38] Chr19:12461896 [GRCh37] Chr19:19p13.2	uncertain significance
NM_030824.3(ZNF442):c.1093C>A (p.Gln365Lys)	single nucleotide variant	not specified [RCV005309138]	Chr19:12350492 [GRCh38] Chr19:12461306 [GRCh37] Chr19:19p13.2	uncertain significance

miRNA Target Status (No longer updated)

Predicted Target Of

	Summary Value
Count of predictions:	398
Count of miRNA genes:	327
Interacting mature miRNAs:	343
Transcripts:	ENST00000242804, ENST00000424168, ENST00000438182, ENST00000462995
Prediction methods:	Microtar, Miranda, Rnahybrid
Result types:	miRGate_prediction

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

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

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
1298499	UAE1_H	Urinary albumin excretion QTL 1 (human)	2.73	0.0009	Urinary albumin excretion	urine albumin:creatinine ratio (ACR)	19	1	16075902	Human
1300034	BP50_H	Blood pressure QTL 50 (human)	2.1	0.00094	Blood pressure	systolic	19	11089463	37089463	Human
1643451	SLIPL6_H	Serum lipid level QTL 6 (human)	2.19	0.0008	Lipid level		19	1	16075902	Human
1581534	BP76_H	Blood pressure QTL 76 (human)	2	0.001	Blood pressure	pulse pressure	19	1	16075902	Human
1581535	BP65_H	Blood pressure QTL 65 (human)	3.1	0.001	Blood pressure	pulse pressure	19	1	16075902	Human
2314591	INSUL4_H	Insulin level QTL 4 (human)	3.8	0.000038	Insulin level	fasting	19	1	16075902	Human
1298476	BP3_H	Blood pressure QTL 3 (human)	2.4		Blood pressure	systolic	19	1	16075902	Human

Expression

RNA-SEQ Expression

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

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2438	2788	2253	4971	1726	2349	5	624	1937	465	2269	7288	6455	53	3732	1	851	1740	1615	174	1

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001363774	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_030824	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_006722908	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017027316	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017027317	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017027318	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054322214	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054322215	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054322216	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_007067014	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_008485203	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC008758	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK024418	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK295923	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AX884039	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC071777	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471106	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068259	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA151257	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DC395131	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KT584899	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000242804 ⟹ ENSP00000242804

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	12,345,944 - 12,365,683 (-)	Ensembl

Ensembl Acc Id:

ENST00000424168 ⟹ ENSP00000404935

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	12,350,916 - 12,365,905 (-)	Ensembl

Ensembl Acc Id:

ENST00000438182 ⟹ ENSP00000388634

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	12,345,944 - 12,365,641 (-)	Ensembl

Ensembl Acc Id:

ENST00000462995

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	12,351,791 - 12,365,661 (-)	Ensembl

Ensembl Acc Id:

ENST00000545749 ⟹ ENSP00000440162

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	12,349,701 - 12,363,631 (-)	Ensembl

Ensembl Acc Id:

ENST00001140781 ⟹ ENSP00000802297

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	12,345,944 - 12,365,695 (-)	Ensembl

RefSeq Acc Id:

NM_001363774 ⟹ NP_001350703

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	12,345,944 - 12,365,683 (-)	NCBI
T2T-CHM13v2.0	19	12,474,291 - 12,494,029 (-)	NCBI

Sequence:

show sequence

GGAGCTTTCTACACCCCTCTGAGCTCCCGCTCCTGGCTCTGTAGCTGAGAGAAGCCCTGGCAGG
TCAGTGGCAGGCACTGTCACGCTGAGTCCTATGCTGGCAGCGGGGAACCTTGGGGAGAACACGG
GACACCGCGGAAGCCGGGAAATGGAATGAAATGGGAAGACACAAACATTGAAGATCAGCACAGA
AATCCCAGGAGGAGCCTAAGATGTCATATCATAGAGAGATTTAGTGAAAGTCGCCAGCCAGATA
GTACTGTGAATGAAAAACCTCCTGGAGTAGATCCATGTAAAAGCAGTGTGTGTGGAGAAATCAT
GGGTTGTTCATTCCTTAATTGCTATATCACATTTGATGCTGGACACAAACCAGATGAGTGTCAG
GAATATGGAGAGAAGCCACATACACATAAACAATGTGGGACAGCCTTCAATTATCACCACTCCT
TTCAAACACAGGAAAGACCTCACACTGGAAAGAAACGCTATGATTGTAAGGAATGTGGGAAAAC
CTTCAGTTCTTCGGGAAACCTTCGAAGACACATAATAGTACAACGTGGAGGTGGACCTTATATA
TGTAAGTTGTGTGGGAAAGCCTTTTTTTGGCCTAGTTTATTTCGTATGCATGAAAGAACTCACA
CTGGAGAGAAACCGTATGAATGTAAGCAGTGTTGTAAAGCCTTCCCTATTTACAGTTCCTATCT
AAGACATGAAAGAACACACACTGGGGAGAAACCATATGAATGCAAGCACTGTTCCAAAGCCTTC
CCTGATTACAGTTCCTATGTAAGACATGAAAGAACTCACACTGGAGAAAAACCCTATAAATGTA
AACGATGTGGAAGAGCCTTCAGTGTTTCCAGTTCCCTTCGAATACATGAAAGAACTCACACTGG
AGAGAAACCCTATGAATGCAAGCAATGCGGGAAAGCATTTCATCATCTGGGAAGCTTTCAAAGA
CACATGATAAGGCACACTGGAGATGGACCTCATAAATGTAAGATATGTGGGAAAGGCTTTGATT
GTCCTAGTTCACTGCAAAGTCATGAAAGAACTCACACTGGAGAGAAACCCTATGAATGCAAGCA
GTGTGGGAAAGCGTTATCTCATCACTCAAGCTTTCGAAGTCATATGATAATGCACACTGGAGAT
GGACCTCACAAATGCAAGGTATGTGGGAAAGCCTTCATTTATCCCAGTGTATTTCAAGGACATG
AAAGGACTCATACTGGTGAGAAACCCTATGAATGTAAAGAATGTGGTAAAGCCTTCCGTATTTC
TAGTTCCCTTCGAAGACATGAAACAACTCACACTGGAGAGAAACCCTATAAATGTAAATGTGGG
AAAGCCTTTATTGATTTCTATTCCTTTCAAAATCATGAAACAACTCACACTGGAGAGAAGCCAT
ATGAGTGTAAGGAATGTGGGAAAGCATTCAGTTGTTTCACATACCTTTCTCAACATAGAAGGAC
TCACATGGCTGAAAAACCTTATGAATGTAAAACATGTAAGAAAGCCTTCAGTCATTTTGGTAAC
TTAAAAGTCCATGAAAGGATTCACACTGGAGAGAAGCCATATGAATGTAAGGAATGCAGGAAAG
CATTCTCTTGGCTCACTTGCCTTCTGCGACATGAAAGAATTCACACTGGAAAGAAATCTTATGA
ATGTCAACAATGTGGTAAAGCCTTCACTCGTTCTCGTTTCCTTCGAGGACATGAAAAAACTCAC
ACTGGAGAGAAGATGCATGAATGTAAGGAATGTGGGAAGGCACTGAGTTCTCTCAGTTCCTTGC
ATAGACATAAAAGGACTCACTGGAGAGATACTCTATAAATGTGGAAAAGCATTCATTAATTTTA
TTTCATTTCAGAAACGTGAAAGAAATCACATAGGAGATAAGCCTCATGAATGCAAACACATGGT
AAAGCCTTAAGATGTTTCTTTTGAATATGGTTATCCCCTAACCATATGCAGGGGATTGGTTCCA
GACCCCCTAAGCATACCTAAATCCACAGATGCTGTGTTCCTTTTATAAAAGGACATTTGCATGT
AACCTATCCACATCCTCCTGCATCCCATAAATCATGCCTAGATTACTTAATTTTTCACCAACCC
AAAGCTTTTGTAAAAGTAAAAATAAAAAGTAGGTTACTAAAATACCTCATGTGTTGTAAAAGCT
ATGTAAACAGTCATTTTATTGTATTTTTTTTAGAGAATCGTGATATGAAAATAATCCTGTGCTG
TTGAGAACAGACCCAACCATCACAGGCCTGCCTACATAGTACATGTCACCTAGAATGTTACAGT
TTCTTTTTTTCTTTTTTTTTTTTTTAAGACAGAGTTTCACTCTTATTGCCCAGGCTGGAGGGCA
ATGGCACAATCTCAGCTCACTGCATCCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGTCTTAGC
CTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACACCCAGCTAATTTTTTTTTTTTTTTTT
TTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCATCATATTGGTCAGGCTGGTCTCGAACTCCT
GACCTCAGATGATCTGCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCTGTAA
TCTACAGTTTCTTTTTTTTCAACAATCATAGATTGCTTTTATTTAATGACCTGGAATCGTGTGT
TAACACTTATGAAAATCCTGATCCTTCTTGCTTGATAACCCAAGGATGATGATGATGATCATGA
TCATGATGATGCTGATTACAGTATGGTGCCTAATATGATTCACTGAGGTGACTAGATGGGTGGC
ACTGTAGATAAACAGTGAGACATCAGGCTCACTTGAATCTTGACAGGATGTCAGGATGATCATC
TGTGTTGGATGAACCAGGTTCTGATTGCAGATGCTGAGTTTGGAAGAGACTAAATAATACTAAT
GTCAGAATCTGTTCAGCATGAGGGCTGAAGATGTGTACACACTGAAGGATCTGTCTTCATATTT
GCAGATATTTAGTTAGAAACATTGTTGTAGGAAGCTGGTTCTTTTTCTTTAAATATCCTTGCAG
TGTTTGTTGGCATGTTATCCCTTGGGTGACACAGAGGTTTTGTTCCATTGAAGGATCTTACTTG
AGGATGGCAATCTTTATTTTATTTTTATTTTTATTTATTTATTTATCATTTGAGACTGAGTTTC
GTTCTTATTGCCCAGTCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAACCTCCACCTCCCA
GATTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGCACTCGCCACCATG
CCTGGCTAATTTTTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAAC
TCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCA
CCGTGCCCTGCGAGGATTGTAATCTTTAATACTTTTCACCTTGCAGAGGCTGTAGATGCCCCAA
AAACTGCTGCACATGTTTCAAGTGTCACATCTTTGATATTACCTCTTCTAAGTCTTCTGCATCA
TCATTATCATCATTATCTGCAGAGAATTTCAGTATATCTTCGAGTTCCTTGTTAGTATTTATGC
TCTCTTATTTGTGTTGGGATAGAAAGATTAAGGAAAGGAGAGATGAGAAGGTGGCTCAACAGTT
GAGACAGTTTTATTGGGAGTAAACCTGAGAAGGGCTTCCAGCGGCAGGGTCAGGTGCAAACTTC
TCTTACAGCCTGAGGCTTTTTTAAAGGGCCCAGTGGAGAAGTGTGCTTTGAAACAAAATTCTGT
TAGGGAGGGGTTGGGGAAGTCCTGGCTGTTCTGTTACAGTTAGGGCCGTTATTCTCTGTTGAAG
TTATGGGCGGGGCTGACATTTTCAGTTTTGGCCAGGTGGCCAAATAGAAACTTAAAGCTTAGGA
TGGTGGAGTGTTATAAAGATGGCGGTGCTCTTGTCCTGTCAATGTGTTCCTCAATAAAGTCTTC
AAGCATGTCATAGATTGTTTTCCCCACCAACCTCCCTTGCAGCATTTGAGATATTCCTGATACT
TCATCAATAGTGGAGAAGCTCCTGAAATCATTGACTTCCTCACTCCATAATGGTTTCCAACACC
CAATGAAGTAGTAGGAGGAAAACATGGGTTTCTTCTCCTGGAAGCCTCCAGAAGAAGGTATTTC
AATATGGGGAGAGTGGTCAGCTGTGTCACAGGTCACTGAGAATTTGAATAAGACAAGGAAAAAG
GGTTGACTGTAGATTTTGGCAAGTATTTGGTCACTGGGGGCCTTGATAAGAGCTGTTTCATTGA
AGTATTCATGAGAATAACTTGTAGTGAAATATATCTCAAATAGACCTCCACGATGTTGCCTAGA
GGGCAGTGTTACCCTTTGAACTACCAACATTAACCACTGGAACTGCTCATCTGGAAGCCTCTTA
CAGTGCTGGTACAAACTAGAATACACAAAGGAAGGGATCATTTTATACGTGTTACTGTGCTACT
TGCTCTATCTACTTAGTGTTCCATACATGTAATTACCTATTCCATCCTATCCCAAAGTACTGAA
AATCTCCATTCTACTTTCTCTGTCTGTGAATTTGACTATTCATAGAGAGAGAGATATGTGGAAG
TATGCATGTGTCCTTCCATGTCTGGCTTATTTCACTTAGAACGTTTTCAAGGTTTATCCATGTG
GTAGCATGTATCAGGAACTCATTGTTTTTGTGTCTGAATAAATTTCCACTGTATGGTTAAAGCA
TACTTTGTTTATCCATTTTTATGTTGATAAACATGGGTTGTTTCCACAGTAATAATTTGACTGC
TATCAATAAGGCTGCTGTGGATGTGGTATGTCTATGTCTGTGTGAGTCCCTGCTTTCAATTCTT
TTGGATATATGTATCCCTAGGAGTGTAATTGCTGGTTCACAGAATAATTGGTGTAAACCTTTTT
CAGGAACAGGTATATTGCTTTACAAAGTGGCTACAATGTTTTACATTCTCTCCAGCAATGCATA
AGGGTTTCTATTTTCCACATTGTCACATATACTGGTTGTCGTATTTTTTTCATAATAGCCAATT
AATGGTTCTGTACTGCTTTTTCATTGTGGTTTTGATTTGCATTTCCCTAATGACCAATAATAAT
GCACATTGGTTTTTGTTTTTGTTGGTTGTTTATATATTTTTTGAACCAGTTTGTTTTAAAATCC
TTTGCTCATTAAAATTGAGTCATTTGTGTTTTGTTGTTGAGTTATAGGAATTCTTATTTAAAAT
TTTTAGTTTTTAATATTTAGAAAATTTCTTTCTTTTTTCAGCTCCCAAGTGCTTGGAAGAGAGT
TGTAGGAATTCTTTATACACTGTGGGTATTAAGCCCTTATTTGATATGTGATATGCAGATGTGT
TCTCCCTTTCTGTAGGTTTTCTTTTCATCTTGAGATTGTCCTTTGGTGCGCAAAAGTTTTTAAT
TTCGATGTAGTCCAGTTTATCTTTTATTGGTTGTCTGTGCCTTAAATGTCGTATCCAATAAATC
ACTGCCAAATTTAACAAAA

hide sequence

RefSeq Acc Id:

NM_030824 ⟹ NP_110451

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	12,345,944 - 12,365,683 (-)	NCBI
GRCh37	19	12,460,185 - 12,476,475 (-)	RGD
Build 36	19	12,321,185 - 12,337,475 (-)	NCBI Archive
Celera	19	12,354,010 - 12,370,301 (-)	RGD
HuRef	19	12,035,169 - 12,050,816 (-)	ENTREZGENE
CHM1_1	19	12,460,464 - 12,476,754 (-)	NCBI
T2T-CHM13v2.0	19	12,474,291 - 12,494,029 (-)	NCBI

Sequence:

show sequence

GGAGCTTTCTACACCCCTCTGAGCTCCCGCTCCTGGCTCTGTAGCTGAGAGAAGCCCTGGCAGG
TCAGTGGCAGGCACTGTCACGCTGAGTCCTATGCTGGCAGCGGGGAACCTTGGGGAGAACACGG
GACACCGCGGAAGCCGGGAAATGATTGTGCGGCTGTAACCGGCACAGGTTCGCGGTCCGAGTCA
CTGCACCGAGACTCCAAGGCCTGCAGCAGAAACAGTTTAATAGGGGGAGAGGAGAGAAGACCCC
AGTTCCGCCTCCATGAGAGGTTTGGGGATGGGGGTGTTTAGGGGTCTGGACAGGGGCGGCTGAA
GTGTGGGGTCGCTGGTTGGTGGGGAAGTGACAGGCGAATCCTGGGACGGGAGGTGAAGAAACCG
CATTCTCCTGCTGAGTGGGTTCCCTCGTGGGGTTTTCACCCTGCTTGGCGCCAGCCTTTCCGTT
GGAATTCAAGATCTGAGAAAGAACTTGGGCAACTCGAGCAGCTCTCCGAGATCTTATCCCCAGG
CACAATGCAGAAGCCGGCGGTCAGTGTCTTCTGTGACCTGACTCTCAGGAAGGCGGCCCCCGCG
AGGCAGTGGGGCTCAGGTTTCCATTCCTTGGGGACACACGGCTGGTCAGCCAGTTGAATGATTG
TATTTGGGGGAGAAGACAGAAGTGATCTCTTCCTTCCTGACTCTCAGACTAATGAAGAGAGAAA
ACAATATGATTCAGTAGCCTTTGAGGATGTGGCGGTGAACTTCACCCAGGAAGAGTGGGCTTTG
CTGGGTCCATCACAGAAGAGTCTGTACAGAGATGTGATGTGGGAAACCATTAGGAACCTGGACT
GTATAGGAATGAAATGGGAAGACACAAACATTGAAGATCAGCACAGAAATCCCAGGAGGAGCCT
AAGATGTCATATCATAGAGAGATTTAGTGAAAGTCGCCAGCCAGATAGTACTGTGAATGAAAAA
CCTCCTGGAGTAGATCCATGTAAAAGCAGTGTGTGTGGAGAAATCATGGGTTGTTCATTCCTTA
ATTGCTATATCACATTTGATGCTGGACACAAACCAGATGAGTGTCAGGAATATGGAGAGAAGCC
ACATACACATAAACAATGTGGGACAGCCTTCAATTATCACCACTCCTTTCAAACACAGGAAAGA
CCTCACACTGGAAAGAAACGCTATGATTGTAAGGAATGTGGGAAAACCTTCAGTTCTTCGGGAA
ACCTTCGAAGACACATAATAGTACAACGTGGAGGTGGACCTTATATATGTAAGTTGTGTGGGAA
AGCCTTTTTTTGGCCTAGTTTATTTCGTATGCATGAAAGAACTCACACTGGAGAGAAACCGTAT
GAATGTAAGCAGTGTTGTAAAGCCTTCCCTATTTACAGTTCCTATCTAAGACATGAAAGAACAC
ACACTGGGGAGAAACCATATGAATGCAAGCACTGTTCCAAAGCCTTCCCTGATTACAGTTCCTA
TGTAAGACATGAAAGAACTCACACTGGAGAAAAACCCTATAAATGTAAACGATGTGGAAGAGCC
TTCAGTGTTTCCAGTTCCCTTCGAATACATGAAAGAACTCACACTGGAGAGAAACCCTATGAAT
GCAAGCAATGCGGGAAAGCATTTCATCATCTGGGAAGCTTTCAAAGACACATGATAAGGCACAC
TGGAGATGGACCTCATAAATGTAAGATATGTGGGAAAGGCTTTGATTGTCCTAGTTCACTGCAA
AGTCATGAAAGAACTCACACTGGAGAGAAACCCTATGAATGCAAGCAGTGTGGGAAAGCGTTAT
CTCATCACTCAAGCTTTCGAAGTCATATGATAATGCACACTGGAGATGGACCTCACAAATGCAA
GGTATGTGGGAAAGCCTTCATTTATCCCAGTGTATTTCAAGGACATGAAAGGACTCATACTGGT
GAGAAACCCTATGAATGTAAAGAATGTGGTAAAGCCTTCCGTATTTCTAGTTCCCTTCGAAGAC
ATGAAACAACTCACACTGGAGAGAAACCCTATAAATGTAAATGTGGGAAAGCCTTTATTGATTT
CTATTCCTTTCAAAATCATGAAACAACTCACACTGGAGAGAAGCCATATGAGTGTAAGGAATGT
GGGAAAGCATTCAGTTGTTTCACATACCTTTCTCAACATAGAAGGACTCACATGGCTGAAAAAC
CTTATGAATGTAAAACATGTAAGAAAGCCTTCAGTCATTTTGGTAACTTAAAAGTCCATGAAAG
GATTCACACTGGAGAGAAGCCATATGAATGTAAGGAATGCAGGAAAGCATTCTCTTGGCTCACT
TGCCTTCTGCGACATGAAAGAATTCACACTGGAAAGAAATCTTATGAATGTCAACAATGTGGTA
AAGCCTTCACTCGTTCTCGTTTCCTTCGAGGACATGAAAAAACTCACACTGGAGAGAAGATGCA
TGAATGTAAGGAATGTGGGAAGGCACTGAGTTCTCTCAGTTCCTTGCATAGACATAAAAGGACT
CACTGGAGAGATACTCTATAAATGTGGAAAAGCATTCATTAATTTTATTTCATTTCAGAAACGT
GAAAGAAATCACATAGGAGATAAGCCTCATGAATGCAAACACATGGTAAAGCCTTAAGATGTTT
CTTTTGAATATGGTTATCCCCTAACCATATGCAGGGGATTGGTTCCAGACCCCCTAAGCATACC
TAAATCCACAGATGCTGTGTTCCTTTTATAAAAGGACATTTGCATGTAACCTATCCACATCCTC
CTGCATCCCATAAATCATGCCTAGATTACTTAATTTTTCACCAACCCAAAGCTTTTGTAAAAGT
AAAAATAAAAAGTAGGTTACTAAAATACCTCATGTGTTGTAAAAGCTATGTAAACAGTCATTTT
ATTGTATTTTTTTTAGAGAATCGTGATATGAAAATAATCCTGTGCTGTTGAGAACAGACCCAAC
CATCACAGGCCTGCCTACATAGTACATGTCACCTAGAATGTTACAGTTTCTTTTTTTCTTTTTT
TTTTTTTTAAGACAGAGTTTCACTCTTATTGCCCAGGCTGGAGGGCAATGGCACAATCTCAGCT
CACTGCATCCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGTCTTAGCCTCCTGAGTAGCTGGGA
TTACAGATGCATGCCACCACACCCAGCTAATTTTTTTTTTTTTTTTTTTTTTTTTGTATTTTTA
GTAGAGACGGGGTTTCATCATATTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCTGC
CTGCCTTGGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCTGTAATCTACAGTTTCTTTTTT
TTCAACAATCATAGATTGCTTTTATTTAATGACCTGGAATCGTGTGTTAACACTTATGAAAATC
CTGATCCTTCTTGCTTGATAACCCAAGGATGATGATGATGATCATGATCATGATGATGCTGATT
ACAGTATGGTGCCTAATATGATTCACTGAGGTGACTAGATGGGTGGCACTGTAGATAAACAGTG
AGACATCAGGCTCACTTGAATCTTGACAGGATGTCAGGATGATCATCTGTGTTGGATGAACCAG
GTTCTGATTGCAGATGCTGAGTTTGGAAGAGACTAAATAATACTAATGTCAGAATCTGTTCAGC
ATGAGGGCTGAAGATGTGTACACACTGAAGGATCTGTCTTCATATTTGCAGATATTTAGTTAGA
AACATTGTTGTAGGAAGCTGGTTCTTTTTCTTTAAATATCCTTGCAGTGTTTGTTGGCATGTTA
TCCCTTGGGTGACACAGAGGTTTTGTTCCATTGAAGGATCTTACTTGAGGATGGCAATCTTTAT
TTTATTTTTATTTTTATTTATTTATTTATCATTTGAGACTGAGTTTCGTTCTTATTGCCCAGTC
TGGAGTGCAGTGGCGCGATCTCGACTCACTGCAACCTCCACCTCCCAGATTCAAGCGATTCTCC
TGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGCACTCGCCACCATGCCTGGCTAATTTTTATT
TTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGAT
CCACCTGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACCGTGCCCTGCGAGGAT
TGTAATCTTTAATACTTTTCACCTTGCAGAGGCTGTAGATGCCCCAAAAACTGCTGCACATGTT
TCAAGTGTCACATCTTTGATATTACCTCTTCTAAGTCTTCTGCATCATCATTATCATCATTATC
TGCAGAGAATTTCAGTATATCTTCGAGTTCCTTGTTAGTATTTATGCTCTCTTATTTGTGTTGG
GATAGAAAGATTAAGGAAAGGAGAGATGAGAAGGTGGCTCAACAGTTGAGACAGTTTTATTGGG
AGTAAACCTGAGAAGGGCTTCCAGCGGCAGGGTCAGGTGCAAACTTCTCTTACAGCCTGAGGCT
TTTTTAAAGGGCCCAGTGGAGAAGTGTGCTTTGAAACAAAATTCTGTTAGGGAGGGGTTGGGGA
AGTCCTGGCTGTTCTGTTACAGTTAGGGCCGTTATTCTCTGTTGAAGTTATGGGCGGGGCTGAC
ATTTTCAGTTTTGGCCAGGTGGCCAAATAGAAACTTAAAGCTTAGGATGGTGGAGTGTTATAAA
GATGGCGGTGCTCTTGTCCTGTCAATGTGTTCCTCAATAAAGTCTTCAAGCATGTCATAGATTG
TTTTCCCCACCAACCTCCCTTGCAGCATTTGAGATATTCCTGATACTTCATCAATAGTGGAGAA
GCTCCTGAAATCATTGACTTCCTCACTCCATAATGGTTTCCAACACCCAATGAAGTAGTAGGAG
GAAAACATGGGTTTCTTCTCCTGGAAGCCTCCAGAAGAAGGTATTTCAATATGGGGAGAGTGGT
CAGCTGTGTCACAGGTCACTGAGAATTTGAATAAGACAAGGAAAAAGGGTTGACTGTAGATTTT
GGCAAGTATTTGGTCACTGGGGGCCTTGATAAGAGCTGTTTCATTGAAGTATTCATGAGAATAA
CTTGTAGTGAAATATATCTCAAATAGACCTCCACGATGTTGCCTAGAGGGCAGTGTTACCCTTT
GAACTACCAACATTAACCACTGGAACTGCTCATCTGGAAGCCTCTTACAGTGCTGGTACAAACT
AGAATACACAAAGGAAGGGATCATTTTATACGTGTTACTGTGCTACTTGCTCTATCTACTTAGT
GTTCCATACATGTAATTACCTATTCCATCCTATCCCAAAGTACTGAAAATCTCCATTCTACTTT
CTCTGTCTGTGAATTTGACTATTCATAGAGAGAGAGATATGTGGAAGTATGCATGTGTCCTTCC
ATGTCTGGCTTATTTCACTTAGAACGTTTTCAAGGTTTATCCATGTGGTAGCATGTATCAGGAA
CTCATTGTTTTTGTGTCTGAATAAATTTCCACTGTATGGTTAAAGCATACTTTGTTTATCCATT
TTTATGTTGATAAACATGGGTTGTTTCCACAGTAATAATTTGACTGCTATCAATAAGGCTGCTG
TGGATGTGGTATGTCTATGTCTGTGTGAGTCCCTGCTTTCAATTCTTTTGGATATATGTATCCC
TAGGAGTGTAATTGCTGGTTCACAGAATAATTGGTGTAAACCTTTTTCAGGAACAGGTATATTG
CTTTACAAAGTGGCTACAATGTTTTACATTCTCTCCAGCAATGCATAAGGGTTTCTATTTTCCA
CATTGTCACATATACTGGTTGTCGTATTTTTTTCATAATAGCCAATTAATGGTTCTGTACTGCT
TTTTCATTGTGGTTTTGATTTGCATTTCCCTAATGACCAATAATAATGCACATTGGTTTTTGTT
TTTGTTGGTTGTTTATATATTTTTTGAACCAGTTTGTTTTAAAATCCTTTGCTCATTAAAATTG
AGTCATTTGTGTTTTGTTGTTGAGTTATAGGAATTCTTATTTAAAATTTTTAGTTTTTAATATT
TAGAAAATTTCTTTCTTTTTTCAGCTCCCAAGTGCTTGGAAGAGAGTTGTAGGAATTCTTTATA
CACTGTGGGTATTAAGCCCTTATTTGATATGTGATATGCAGATGTGTTCTCCCTTTCTGTAGGT
TTTCTTTTCATCTTGAGATTGTCCTTTGGTGCGCAAAAGTTTTTAATTTCGATGTAGTCCAGTT
TATCTTTTATTGGTTGTCTGTGCCTTAAATGTCGTATCCAATAAATCACTGCCAAATTTAACAA
AA

hide sequence

RefSeq Acc Id:

XM_006722908 ⟹ XP_006722971

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	12,345,944 - 12,365,896 (-)	NCBI

Sequence:

show sequence

GAGGAAGCCCACCCTATCAAGGGCTGTGTCTGGAACCGCTTCATCTCGCTCCACTCAGCCGTCT
GAGAGAAGCCCTGGCAGGTCAGTGGCAGGCACTGTCACGCTGAGTCCTATGCTGGCAGCGGGGA
ACCTTGGGGAGAACACGGGACACCGCGGAAGCCGGGAAATGGATTCAGTAGCCTTTGAGGATGT
GGCGGTGAACTTCACCCAGGAAGAGTGGGCTTTGCTGGGTCCATCACAGAAGAGTCTGTACAGA
GATGTGATGTGGGAAACCATTAGGAACCTGGACTGTATAGGAATGAAATGGGAAGACACAAACA
TTGAAGATCAGCACAGAAATCCCAGGAGGAGCCTAAGATGTCATATCATAGAGAGATTTAGTGA
AAGTCGCCAGCCAGATAGTACTGTGAATGAAAAACCTCCTGGAGTAGATCCATGTAAAAGCAGT
GTGTGTGGAGAAATCATGGGTTGTTCATTCCTTAATTGCTATATCACATTTGATGCTGGACACA
AACCAGATGAGTGTCAGGAATATGGAGAGAAGCCACATACACATAAACAATGTGGGACAGCCTT
CAATTATCACCACTCCTTTCAAACACAGGAAAGACCTCACACTGGAAAGAAACGCTATGATTGT
AAGGAATGTGGGAAAACCTTCAGTTCTTCGGGAAACCTTCGAAGACACATAATAGTACAACGTG
GAGGTGGACCTTATATATGTAAGTTGTGTGGGAAAGCCTTTTTTTGGCCTAGTTTATTTCGTAT
GCATGAAAGAACTCACACTGGAGAGAAACCGTATGAATGTAAGCAGTGTTGTAAAGCCTTCCCT
ATTTACAGTTCCTATCTAAGACATGAAAGAACACACACTGGGGAGAAACCATATGAATGCAAGC
ACTGTTCCAAAGCCTTCCCTGATTACAGTTCCTATGTAAGACATGAAAGAACTCACACTGGAGA
AAAACCCTATAAATGTAAACGATGTGGAAGAGCCTTCAGTGTTTCCAGTTCCCTTCGAATACAT
GAAAGAACTCACACTGGAGAGAAACCCTATGAATGCAAGCAATGCGGGAAAGCATTTCATCATC
TGGGAAGCTTTCAAAGACACATGATAAGGCACACTGGAGATGGACCTCATAAATGTAAGATATG
TGGGAAAGGCTTTGATTGTCCTAGTTCACTGCAAAGTCATGAAAGAACTCACACTGGAGAGAAA
CCCTATGAATGCAAGCAGTGTGGGAAAGCGTTATCTCATCACTCAAGCTTTCGAAGTCATATGA
TAATGCACACTGGAGATGGACCTCACAAATGCAAGGTATGTGGGAAAGCCTTCATTTATCCCAG
TGTATTTCAAGGACATGAAAGGACTCATACTGGTGAGAAACCCTATGAATGTAAAGAATGTGGT
AAAGCCTTCCGTATTTCTAGTTCCCTTCGAAGACATGAAACAACTCACACTGGAGAGAAACCCT
ATAAATGTAAATGTGGGAAAGCCTTTATTGATTTCTATTCCTTTCAAAATCATGAAACAACTCA
CACTGGAGAGAAGCCATATGAGTGTAAGGAATGTGGGAAAGCATTCAGTTGTTTCACATACCTT
TCTCAACATAGAAGGACTCACATGGCTGAAAAACCTTATGAATGTAAAACATGTAAGAAAGCCT
TCAGTCATTTTGGTAACTTAAAAGTCCATGAAAGGATTCACACTGGAGAGAAGCCATATGAATG
TAAGGAATGCAGGAAAGCATTCTCTTGGCTCACTTGCCTTCTGCGACATGAAAGAATTCACACT
GGAAAGAAATCTTATGAATGTCAACAATGTGGTAAAGCCTTCACTCGTTCTCGTTTCCTTCGAG
GACATGAAAAAACTCACACTGGAGAGAAGATGCATGAATGTAAGGAATGTGGGAAGGCACTGAG
TTCTCTCAGTTCCTTGCATAGACATAAAAGGACTCACTGGAGAGATACTCTATAAATGTGGAAA
AGCATTCATTAATTTTATTTCATTTCAGAAACGTGAAAGAAATCACATAGGAGATAAGCCTCAT
GAATGCAAACACATGGTAAAGCCTTAAGATGTTTCTTTTGAATATGGTTATCCCCTAACCATAT
GCAGGGGATTGGTTCCAGACCCCCTAAGCATACCTAAATCCACAGATGCTGTGTTCCTTTTATA
AAAGGACATTTGCATGTAACCTATCCACATCCTCCTGCATCCCATAAATCATGCCTAGATTACT
TAATTTTTCACCAACCCAAAGCTTTTGTAAAAGTAAAAATAAAAAGTAGGTTACTAAAATA

hide sequence

RefSeq Acc Id:

XM_017027316 ⟹ XP_016882805

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	12,345,944 - 12,365,820 (-)	NCBI

Sequence:

show sequence

GGAAATTCCGCTTAAATGCAAATGTCCCCTGGGAGGGGTCAGGTCACAGCGAAGGGAGGAAGCC
CACCCTATCAAGGGCTGTGTCTGGAACCGCTTCATCTCGCTCCACTCAGCCGTGATTCAGTAGC
CTTTGAGGATGTGGCGGTGAACTTCACCCAGGAAGAGTGGGCTTTGCTGGGTCCATCACAGAAG
AGTCTGTACAGAGATGTGATGTGGGAAACCATTAGGAACCTGGACTGTATAGGAATGAAATGGG
AAGACACAAACATTGAAGATCAGCACAGAAATCCCAGGAGGAGCCTAAGATGTCATATCATAGA
GAGATTTAGTGAAAGTCGCCAGCCAGATAGTACTGTGAATGAAAAACCTCCTGGAGTAGATCCA
TGTAAAAGCAGTGTGTGTGGAGAAATCATGGGTTGTTCATTCCTTAATTGCTATATCACATTTG
ATGCTGGACACAAACCAGATGAGTGTCAGGAATATGGAGAGAAGCCACATACACATAAACAATG
TGGGACAGCCTTCAATTATCACCACTCCTTTCAAACACAGGAAAGACCTCACACTGGAAAGAAA
CGCTATGATTGTAAGGAATGTGGGAAAACCTTCAGTTCTTCGGGAAACCTTCGAAGACACATAA
TAGTACAACGTGGAGGTGGACCTTATATATGTAAGTTGTGTGGGAAAGCCTTTTTTTGGCCTAG
TTTATTTCGTATGCATGAAAGAACTCACACTGGAGAGAAACCGTATGAATGTAAGCAGTGTTGT
AAAGCCTTCCCTATTTACAGTTCCTATCTAAGACATGAAAGAACACACACTGGGGAGAAACCAT
ATGAATGCAAGCACTGTTCCAAAGCCTTCCCTGATTACAGTTCCTATGTAAGACATGAAAGAAC
TCACACTGGAGAAAAACCCTATAAATGTAAACGATGTGGAAGAGCCTTCAGTGTTTCCAGTTCC
CTTCGAATACATGAAAGAACTCACACTGGAGAGAAACCCTATGAATGCAAGCAATGCGGGAAAG
CATTTCATCATCTGGGAAGCTTTCAAAGACACATGATAAGGCACACTGGAGATGGACCTCATAA
ATGTAAGATATGTGGGAAAGGCTTTGATTGTCCTAGTTCACTGCAAAGTCATGAAAGAACTCAC
ACTGGAGAGAAACCCTATGAATGCAAGCAGTGTGGGAAAGCGTTATCTCATCACTCAAGCTTTC
GAAGTCATATGATAATGCACACTGGAGATGGACCTCACAAATGCAAGGTATGTGGGAAAGCCTT
CATTTATCCCAGTGTATTTCAAGGACATGAAAGGACTCATACTGGTGAGAAACCCTATGAATGT
AAAGAATGTGGTAAAGCCTTCCGTATTTCTAGTTCCCTTCGAAGACATGAAACAACTCACACTG
GAGAGAAACCCTATAAATGTAAATGTGGGAAAGCCTTTATTGATTTCTATTCCTTTCAAAATCA
TGAAACAACTCACACTGGAGAGAAGCCATATGAGTGTAAGGAATGTGGGAAAGCATTCAGTTGT
TTCACATACCTTTCTCAACATAGAAGGACTCACATGGCTGAAAAACCTTATGAATGTAAAACAT
GTAAGAAAGCCTTCAGTCATTTTGGTAACTTAAAAGTCCATGAAAGGATTCACACTGGAGAGAA
GCCATATGAATGTAAGGAATGCAGGAAAGCATTCTCTTGGCTCACTTGCCTTCTGCGACATGAA
AGAATTCACACTGGAAAGAAATCTTATGAATGTCAACAATGTGGTAAAGCCTTCACTCGTTCTC
GTTTCCTTCGAGGACATGAAAAAACTCACACTGGAGAGAAGATGCATGAATGTAAGGAATGTGG
GAAGGCACTGAGTTCTCTCAGTTCCTTGCATAGACATAAAAGGACTCACTGGAGAGATACTCTA
TAAATGTGGAAAAGCATTCATTAATTTTATTTCATTTCAGAAACGTGAAAGAAATCACATAGGA
GATAAGCCTCATGAATGCAAACACATGGTAAAGCCTTAAGATGTTTCTTTTGAATATGGTTATC
CCCTAACCATATGCAGGGGATTGGTTCCAGACCCCCTAAGCATACCTAAATCCACAGATGCTGT
GTTCCTTTTATAAAAGGACATTTGCATGTAACCTATCCACATCCTCCTGCATCCCATAAATCAT
GCCTAGATTACTTAATTTTTCACCAACCCAAAGCTTTTGTAAAAGTAAAAATAAAAAGTAGGTT
ACTAAAATA

hide sequence

RefSeq Acc Id:

XM_017027317 ⟹ XP_016882806

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	12,345,944 - 12,373,779 (-)	NCBI

Sequence:

show sequence

CAGAAAAAAACACATCAAGGATTCAGTAGCCTTTGAGGATGTGGCGGTGAACTTCACCCAGGAA
GAGTGGGCTTTGCTGGGTCCATCACAGAAGAGTCTGTACAGAGATGTGATGTGGGAAACCATTA
GGAACCTGGACTGTATAGGAATGAAATGGGAAGACACAAACATTGAAGATCAGCACAGAAATCC
CAGGAGGAGCCTAAGATGTCATATCATAGAGAGATTTAGTGAAAGTCGCCAGCCAGATAGTACT
GTGAATGAAAAACCTCCTGGAGTAGATCCATGTAAAAGCAGTGTGTGTGGAGAAATCATGGGTT
GTTCATTCCTTAATTGCTATATCACATTTGATGCTGGACACAAACCAGATGAGTGTCAGGAATA
TGGAGAGAAGCCACATACACATAAACAATGTGGGACAGCCTTCAATTATCACCACTCCTTTCAA
ACACAGGAAAGACCTCACACTGGAAAGAAACGCTATGATTGTAAGGAATGTGGGAAAACCTTCA
GTTCTTCGGGAAACCTTCGAAGACACATAATAGTACAACGTGGAGGTGGACCTTATATATGTAA
GTTGTGTGGGAAAGCCTTTTTTTGGCCTAGTTTATTTCGTATGCATGAAAGAACTCACACTGGA
GAGAAACCGTATGAATGTAAGCAGTGTTGTAAAGCCTTCCCTATTTACAGTTCCTATCTAAGAC
ATGAAAGAACACACACTGGGGAGAAACCATATGAATGCAAGCACTGTTCCAAAGCCTTCCCTGA
TTACAGTTCCTATGTAAGACATGAAAGAACTCACACTGGAGAAAAACCCTATAAATGTAAACGA
TGTGGAAGAGCCTTCAGTGTTTCCAGTTCCCTTCGAATACATGAAAGAACTCACACTGGAGAGA
AACCCTATGAATGCAAGCAATGCGGGAAAGCATTTCATCATCTGGGAAGCTTTCAAAGACACAT
GATAAGGCACACTGGAGATGGACCTCATAAATGTAAGATATGTGGGAAAGGCTTTGATTGTCCT
AGTTCACTGCAAAGTCATGAAAGAACTCACACTGGAGAGAAACCCTATGAATGCAAGCAGTGTG
GGAAAGCGTTATCTCATCACTCAAGCTTTCGAAGTCATATGATAATGCACACTGGAGATGGACC
TCACAAATGCAAGGTATGTGGGAAAGCCTTCATTTATCCCAGTGTATTTCAAGGACATGAAAGG
ACTCATACTGGTGAGAAACCCTATGAATGTAAAGAATGTGGTAAAGCCTTCCGTATTTCTAGTT
CCCTTCGAAGACATGAAACAACTCACACTGGAGAGAAACCCTATAAATGTAAATGTGGGAAAGC
CTTTATTGATTTCTATTCCTTTCAAAATCATGAAACAACTCACACTGGAGAGAAGCCATATGAG
TGTAAGGAATGTGGGAAAGCATTCAGTTGTTTCACATACCTTTCTCAACATAGAAGGACTCACA
TGGCTGAAAAACCTTATGAATGTAAAACATGTAAGAAAGCCTTCAGTCATTTTGGTAACTTAAA
AGTCCATGAAAGGATTCACACTGGAGAGAAGCCATATGAATGTAAGGAATGCAGGAAAGCATTC
TCTTGGCTCACTTGCCTTCTGCGACATGAAAGAATTCACACTGGAAAGAAATCTTATGAATGTC
AACAATGTGGTAAAGCCTTCACTCGTTCTCGTTTCCTTCGAGGACATGAAAAAACTCACACTGG
AGAGAAGATGCATGAATGTAAGGAATGTGGGAAGGCACTGAGTTCTCTCAGTTCCTTGCATAGA
CATAAAAGGACTCACTGGAGAGATACTCTATAAATGTGGAAAAGCATTCATTAATTTTATTTCA
TTTCAGAAACGTGAAAGAAATCACATAGGAGATAAGCCTCATGAATGCAAACACATGGTAAAGC
CTTAAGATGTTTCTTTTGAATATGGTTATCCCCTAACCATATGCAGGGGATTGGTTCCAGACCC
CCTAAGCATACCTAAATCCACAGATGCTGTGTTCCTTTTATAAAAGGACATTTGCATGTAACCT
ATCCACATCCTCCTGCATCCCATAAATCATGCCTAGATTACTTAATTTTTCACCAACCCAAAGC
TTTTGTAAAAGTAAAAATAAAAAGTAGGTTACTAAAATA

hide sequence

RefSeq Acc Id:

XM_054322214 ⟹ XP_054178189

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	19	12,474,291 - 12,494,166 (-)	NCBI

RefSeq Acc Id:

XM_054322215 ⟹ XP_054178190

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	19	12,474,291 - 12,494,242 (-)	NCBI

RefSeq Acc Id:

XM_054322216 ⟹ XP_054178191

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	19	12,474,291 - 12,502,125 (-)	NCBI

RefSeq Acc Id:

XR_007067014

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	12,345,944 - 12,353,114 (-)	NCBI

RefSeq Acc Id:

XR_008485203

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	19	12,474,291 - 12,481,462 (-)	NCBI

Protein Sequences


Protein RefSeqs	NP_001350703	(Get FASTA)	NCBI Sequence Viewer
	NP_110451	(Get FASTA)	NCBI Sequence Viewer
	XP_006722971	(Get FASTA)	NCBI Sequence Viewer
	XP_016882805	(Get FASTA)	NCBI Sequence Viewer
	XP_016882806	(Get FASTA)	NCBI Sequence Viewer
	XP_054178189	(Get FASTA)	NCBI Sequence Viewer
	XP_054178190	(Get FASTA)	NCBI Sequence Viewer
	XP_054178191	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	BAB14916	(Get FASTA)	NCBI Sequence Viewer
	BAG58710	(Get FASTA)	NCBI Sequence Viewer
	CAE92211	(Get FASTA)	NCBI Sequence Viewer
	EAW84270	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000242804
	ENSP00000242804.4
	ENSP00000388634
	ENSP00000388634.1
	ENSP00000440162.2
GenBank Protein	Q9H7R0	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_110451 ⟸ NM_030824
- Peptide Label:	isoform 1
- UniProtKB:	B4DJ48 (UniProtKB/Swiss-Prot), Q9H7R0 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MIVFGGEDRSDLFLPDSQTNEERKQYDSVAFEDVAVNFTQEEWALLGPSQKSLYRDVMWETIRN LDCIGMKWEDTNIEDQHRNPRRSLRCHIIERFSESRQPDSTVNEKPPGVDPCKSSVCGEIMGCS FLNCYITFDAGHKPDECQEYGEKPHTHKQCGTAFNYHHSFQTQERPHTGKKRYDCKECGKTFSS SGNLRRHIIVQRGGGPYICKLCGKAFFWPSLFRMHERTHTGEKPYECKQCCKAFPIYSSYLRHE RTHTGEKPYECKHCSKAFPDYSSYVRHERTHTGEKPYKCKRCGRAFSVSSSLRIHERTHTGEKP YECKQCGKAFHHLGSFQRHMIRHTGDGPHKCKICGKGFDCPSSLQSHERTHTGEKPYECKQCGK ALSHHSSFRSHMIMHTGDGPHKCKVCGKAFIYPSVFQGHERTHTGEKPYECKECGKAFRISSSL RRHETTHTGEKPYKCKCGKAFIDFYSFQNHETTHTGEKPYECKECGKAFSCFTYLSQHRRTHMA EKPYECKTCKKAFSHFGNLKVHERIHTGEKPYECKECRKAFSWLTCLLRHERIHTGKKSYECQQ CGKAFTRSRFLRGHEKTHTGEKMHECKECGKALSSLSSLHRHKRTHWRDTL hide sequence

RefSeq Acc Id:

XP_006722971 ⟸ XM_006722908

- Peptide Label:

isoform X2

- Sequence:

show sequence

MLAAGNLGENTGHRGSREMDSVAFEDVAVNFTQEEWALLGPSQKSLYRDVMWETIRNLDCIGMK
WEDTNIEDQHRNPRRSLRCHIIERFSESRQPDSTVNEKPPGVDPCKSSVCGEIMGCSFLNCYIT
FDAGHKPDECQEYGEKPHTHKQCGTAFNYHHSFQTQERPHTGKKRYDCKECGKTFSSSGNLRRH
IIVQRGGGPYICKLCGKAFFWPSLFRMHERTHTGEKPYECKQCCKAFPIYSSYLRHERTHTGEK
PYECKHCSKAFPDYSSYVRHERTHTGEKPYKCKRCGRAFSVSSSLRIHERTHTGEKPYECKQCG
KAFHHLGSFQRHMIRHTGDGPHKCKICGKGFDCPSSLQSHERTHTGEKPYECKQCGKALSHHSS
FRSHMIMHTGDGPHKCKVCGKAFIYPSVFQGHERTHTGEKPYECKECGKAFRISSSLRRHETTH
TGEKPYKCKCGKAFIDFYSFQNHETTHTGEKPYECKECGKAFSCFTYLSQHRRTHMAEKPYECK
TCKKAFSHFGNLKVHERIHTGEKPYECKECRKAFSWLTCLLRHERIHTGKKSYECQQCGKAFTR
SRFLRGHEKTHTGEKMHECKECGKALSSLSSLHRHKRTHWRDTL

hide sequence

RefSeq Acc Id:

XP_016882806 ⟸ XM_017027317

- Peptide Label:

isoform X1

- Sequence:

show sequence

MWETIRNLDCIGMKWEDTNIEDQHRNPRRSLRCHIIERFSESRQPDSTVNEKPPGVDPCKSSVC
GEIMGCSFLNCYITFDAGHKPDECQEYGEKPHTHKQCGTAFNYHHSFQTQERPHTGKKRYDCKE
CGKTFSSSGNLRRHIIVQRGGGPYICKLCGKAFFWPSLFRMHERTHTGEKPYECKQCCKAFPIY
SSYLRHERTHTGEKPYECKHCSKAFPDYSSYVRHERTHTGEKPYKCKRCGRAFSVSSSLRIHER
THTGEKPYECKQCGKAFHHLGSFQRHMIRHTGDGPHKCKICGKGFDCPSSLQSHERTHTGEKPY
ECKQCGKALSHHSSFRSHMIMHTGDGPHKCKVCGKAFIYPSVFQGHERTHTGEKPYECKECGKA
FRISSSLRRHETTHTGEKPYKCKCGKAFIDFYSFQNHETTHTGEKPYECKECGKAFSCFTYLSQ
HRRTHMAEKPYECKTCKKAFSHFGNLKVHERIHTGEKPYECKECRKAFSWLTCLLRHERIHTGK
KSYECQQCGKAFTRSRFLRGHEKTHTGEKMHECKECGKALSSLSSLHRHKRTHWRDTL

hide sequence

RefSeq Acc Id:

XP_016882805 ⟸ XM_017027316

- Peptide Label:

isoform X1

- Sequence:

show sequence

MQMSPGRGQVTAKGGSPPYQGLCLEPLHLAPLSRDSVAFEDVAVNFTQEEWALLGPSQKSLYRD
VMWETIRNLDCIGMKWEDTNIEDQHRNPRRSLRCHIIERFSESRQPDSTVNEKPPGVDPCKSSV
CGEIMGCSFLNCYITFDAGHKPDECQEYGEKPHTHKQCGTAFNYHHSFQTQERPHTGKKRYDCK
ECGKTFSSSGNLRRHIIVQRGGGPYICKLCGKAFFWPSLFRMHERTHTGEKPYECKQCCKAFPI
YSSYLRHERTHTGEKPYECKHCSKAFPDYSSYVRHERTHTGEKPYKCKRCGRAFSVSSSLRIHE
RTHTGEKPYECKQCGKAFHHLGSFQRHMIRHTGDGPHKCKICGKGFDCPSSLQSHERTHTGEKP
YECKQCGKALSHHSSFRSHMIMHTGDGPHKCKVCGKAFIYPSVFQGHERTHTGEKPYECKECGK
AFRISSSLRRHETTHTGEKPYKCKCGKAFIDFYSFQNHETTHTGEKPYECKECGKAFSCFTYLS
QHRRTHMAEKPYECKTCKKAFSHFGNLKVHERIHTGEKPYECKECRKAFSWLTCLLRHERIHTG
KKSYECQQCGKAFTRSRFLRGHEKTHTGEKMHECKECGKALSSLSSLHRHKRTHWRDTL

hide sequence

RefSeq Acc Id:	NP_001350703 ⟸ NM_001363774
- Peptide Label:	isoform 2

Ensembl Acc Id:

ENSP00000388634 ⟸ ENST00000438182

Ensembl Acc Id:

ENSP00000404935 ⟸ ENST00000424168

Ensembl Acc Id:

ENSP00000242804 ⟸ ENST00000242804

Ensembl Acc Id:

ENSP00000440162 ⟸ ENST00000545749

RefSeq Acc Id:	XP_054178191 ⟸ XM_054322216
- Peptide Label:	isoform X1

RefSeq Acc Id:	XP_054178190 ⟸ XM_054322215
- Peptide Label:	isoform X2

RefSeq Acc Id:	XP_054178189 ⟸ XM_054322214
- Peptide Label:	isoform X1

Ensembl Acc Id:

ENSP00000802297 ⟸ ENST00001140781

Protein Domains

C2H2-type KRAB

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9H7R0-F1-model_v2	AlphaFold	Q9H7R0	1-627	view protein structure

Promoters

RGD ID:

6796328

Promoter ID:

HG_KWN:28988

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell_12Hour, K562, Lymphoblastoid

Transcripts:

NM_030824, OTTHUMT00000344110, OTTHUMT00000344111, OTTHUMT00000344112

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	19	12,337,164 - 12,337,664 (-)	MPROMDB

Additional Information

External Database Links

Database	Acc Id	Source(s)
COSMIC	ZNF442	COSMIC
Ensembl Genes	ENSG00000198342	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000242804	ENTREZGENE
	ENST00000242804.9	UniProtKB/Swiss-Prot
	ENST00000438182	ENTREZGENE
	ENST00000438182.5	UniProtKB/Swiss-Prot
	ENST00000545749.2	UniProtKB/Swiss-Prot
Gene3D-CATH	6.10.140.140	UniProtKB/Swiss-Prot
	Classic Zinc Finger	UniProtKB/Swiss-Prot
GTEx	ENSG00000198342	GTEx
HGNC ID	HGNC:20877	ENTREZGENE
Human Proteome Map	ZNF442	Human Proteome Map
InterPro	KRAB	UniProtKB/Swiss-Prot
	KRAB_dom_sf	UniProtKB/Swiss-Prot
	Znf_C2H2_sf	UniProtKB/Swiss-Prot
	Znf_C2H2_type	UniProtKB/Swiss-Prot
KEGG Report	hsa:79973	UniProtKB/Swiss-Prot
NCBI Gene	79973	ENTREZGENE
PANTHER	ZINC FINGER PROTEIN	UniProtKB/Swiss-Prot
	ZINC FINGER PROTEIN 763	UniProtKB/Swiss-Prot
Pfam	KRAB	UniProtKB/Swiss-Prot
	zf-C2H2	UniProtKB/Swiss-Prot
	zf-C2H2_4	UniProtKB/Swiss-Prot
	zf-C2H2_6	UniProtKB/Swiss-Prot
PharmGKB	PA134983440	PharmGKB
PROSITE	KRAB	UniProtKB/Swiss-Prot
	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	SSF109640	UniProtKB/Swiss-Prot
	SSF57667	UniProtKB/Swiss-Prot
UniProt	B4DJ48	ENTREZGENE
	C9JC15_HUMAN	UniProtKB/TrEMBL
	Q9H7R0	ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary	B4DJ48	UniProtKB/Swiss-Prot

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

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

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

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