MEX3D (mex-3 RNA binding family member D)

Gene: MEX3D (mex-3 RNA binding family member D) Homo sapiens

Analyze

Symbol:

MEX3D

Name:

mex-3 RNA binding family member D

RGD ID:

1321562

HGNC Page

HGNC:16734

Description:

Enables mRNA 3'-UTR AU-rich region binding activity. Located in nucleus and perinuclear region of cytoplasm.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

bcl-2 ARE RNA binding protein; KIAA2031; MEX-3D; MEX3; OK/SW-cl.4; ring finger (C3HC4 type) and KH domain containing 1; ring finger and KH domain containing 1; RING finger and KH domain-containing protein 1; RING finger protein 193; RKHD1; RNA-binding protein MEX3D; RNF193; TINO

RGD Orthologs

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Mex3d (mex3 RNA binding family member D)	HGNC	Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther
Rattus norvegicus (Norway rat):	Mex3d (mex-3 RNA binding family member D)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther
Chinchilla lanigera (long-tailed chinchilla):	Mex3d (mex-3 RNA binding family member D)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	MEX3D (mex-3 RNA binding family member D)	NCBI	Ortholog
Canis lupus familiaris (dog):	MEX3D (mex-3 RNA binding family member D)	HGNC	HomoloGene, NCBI
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Mex3d (mex-3 RNA binding family member D)	NCBI	Ortholog
Sus scrofa (pig):	MEX3D (mex-3 RNA binding family member D)	HGNC	Ensembl, Inparanoid, NCBI, OMA, OrthoDB, Panther
Chlorocebus sabaeus (green monkey):	MEX3D (mex-3 RNA binding family member D)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Mex3d (mex-3 RNA binding family member D)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Mex3d (mex-3 RNA binding family member D)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Mex3d (mex3 RNA binding family member D)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Drosophila melanogaster (fruit fly):	CG11360	Alliance	DIOPT (Ensembl Compara\|InParanoid\|OrthoInspector\|PANTHER\|SonicParanoid)
Caenorhabditis elegans (roundworm):	mex-3	Alliance	DIOPT (Ensembl Compara\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	mex3d.S	Alliance	DIOPT (Xenbase)
Xenopus tropicalis (tropical clawed frog):	mex3d	Alliance	DIOPT (Ensembl Compara\|OrthoFinder\|PANTHER)
Xenopus laevis (African clawed frog):	mex3d.L	Alliance	DIOPT (Xenbase)

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	19	1,554,672 - 1,568,325 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	19	1,554,672 - 1,568,325 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	19	1,554,671 - 1,568,324 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	19	1,505,668 - 1,519,057 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	19	1,505,671 - 1,518,529	NCBI
Celera	19	1,489,519 - 1,502,909 (-)	NCBI		Celera
Cytogenetic Map	19	p13.3	NCBI
HuRef	19	1,328,987 - 1,331,058 (-)	NCBI		HuRef
CHM1_1	19	1,554,945 - 1,568,173 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	19	1,525,487 - 1,539,144 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

cerebral creatine deficiency syndrome (IAGP)

cyclic hematopoiesis (IAGP)

Neurodevelopmental Disorders (IAGP)

progressive myoclonus epilepsy 9 (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,1-dichloroethene (ISO)

1,2-dimethylhydrazine (ISO)

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

6-propyl-2-thiouracil (ISO)

acrylamide (ISO)

aflatoxin B1 (EXP)

amphetamine (ISO)

antirheumatic drug (EXP)

arsenous acid (EXP)

atrazine (EXP)

benzo[a]pyrene (EXP,ISO)

bisphenol A (EXP,ISO)

bortezomib (EXP)

cadmium atom (EXP)

caffeine (EXP)

chlorpyrifos (ISO)

cisplatin (EXP)

cobalt dichloride (EXP)

cyclosporin A (EXP)

diarsenic trioxide (EXP)

doxorubicin (EXP)

endosulfan (EXP)

FR900359 (EXP)

gentamycin (ISO)

ivermectin (EXP)

Licochalcone B (EXP)

menadione (EXP)

methyl methanesulfonate (EXP)

methylmercury chloride (EXP)

Monobutylphthalate (ISO)

orphenadrine (ISO)

paracetamol (EXP)

perfluorooctanoic acid (ISO)

phenytoin (ISO)

pinosylvin (EXP)

sodium arsenite (EXP)

sunitinib (EXP)

tetrachloromethane (ISO)

thapsigargin (EXP)

thioacetamide (ISO)

titanium dioxide (ISO)

trans-pinosylvin (EXP)

tunicamycin (EXP)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

mRNA destabilization (NAS)

mRNA localization resulting in post-transcriptional regulation of gene expression (NAS)

Cellular Component

cytoplasm (IEA)

nucleus (IDA,IEA)

perinuclear region of cytoplasm (IDA)

Molecular Function

metal ion binding (IEA)

mRNA 3'-UTR AU-rich region binding (IDA)

RNA binding (HDA,IEA)

References

References - curated

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

Additional References at PubMed

PMID:12477932	PMID:14769789	PMID:15489334	PMID:17267406	PMID:18779327	PMID:19322201	PMID:22658674	PMID:22681889	PMID:26673895	PMID:28514442	PMID:29066822	PMID:29395067
PMID:29802200	PMID:30631154	PMID:31586073	PMID:32460013	PMID:33961781	PMID:34455614	PMID:34732716	PMID:35013218	PMID:35563538	PMID:35652658	PMID:35748872	PMID:36215168
PMID:37689310

Genomics

Comparative Map Data

MEX3D
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	19	1,554,672 - 1,568,325 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	19	1,554,672 - 1,568,325 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	19	1,554,671 - 1,568,324 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	19	1,505,668 - 1,519,057 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	19	1,505,671 - 1,518,529	NCBI
Celera	19	1,489,519 - 1,502,909 (-)	NCBI		Celera
Cytogenetic Map	19	p13.3	NCBI
HuRef	19	1,328,987 - 1,331,058 (-)	NCBI		HuRef
CHM1_1	19	1,554,945 - 1,568,173 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	19	1,525,487 - 1,539,144 (-)	NCBI		T2T-CHM13v2.0

Mex3d
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	10	80,216,189 - 80,223,485 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	10	80,216,189 - 80,223,493 (-)	Ensembl		GRCm39 Ensembl
GRCm38	10	80,380,355 - 80,387,651 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	10	80,380,355 - 80,387,659 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	10	79,843,100 - 79,850,396 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	10	79,783,609 - 79,789,956 (-)	NCBI		MGSCv36	mm8
Celera	10	81,397,612 - 81,404,722 (-)	NCBI		Celera
Cytogenetic Map	10	C1	NCBI
cM Map	10	39.72	NCBI

Mex3d
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	7	9,976,253 - 9,983,383 (+)	NCBI		GRCr8
mRatBN7.2	7	9,325,575 - 9,332,705 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	7	9,325,488 - 9,332,096 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	7	12,202,049 - 12,209,187 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	7	14,077,389 - 14,084,527 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	7	11,945,080 - 11,952,218 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	7	12,191,902 - 12,198,841 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	7	12,192,088 - 12,198,551 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	7	12,361,694 - 12,368,636 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	7	10,832,697 - 10,844,164 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	7	10,831,500 - 10,844,164 (+)	NCBI
Celera	7	7,503,888 - 7,510,589 (+)	NCBI		Celera
Cytogenetic Map	7	q11	NCBI

Mex3d
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0	NW_004955495	6,394,784 - 6,401,963 (+)	NCBI	ChiLan1.0	ChiLan1.0

MEX3D
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	20	5,919,416 - 5,933,088 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	19	5,150,267 - 5,163,966 (-)	NCBI		NHGRI_mPanPan1
PanPan1.1	19	1,526,190 - 1,530,465 (-)	NCBI	panpan1.1	PanPan1.1	panPan2

MEX3D
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	20	57,317,232 - 57,323,854 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
Dog10K_Boxer_Tasha	20	57,108,106 - 57,115,122 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	20	58,046,899 - 58,053,937 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	20	58,046,120 - 58,053,832 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	20	57,103,940 - 57,110,670 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	20	57,582,417 - 57,589,935 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	20	57,784,813 - 57,791,846 (+)	NCBI		UU_Cfam_GSD_1.0

Mex3d
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024405118	216,976,465 - 216,984,178 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936588	850,904 - 858,322 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936588	850,049 - 858,318 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

MEX3D
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	2	76,929,619 - 76,938,367 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	2	76,929,583 - 76,938,238 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	2	78,141,931 - 78,150,376 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

MEX3D
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	6	1,315,113 - 1,347,540 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
Vero_WHO_p1.0	NW_023666441	7 - 14,100 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Mex3d
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624828	7,146,823 - 7,157,745 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624828	7,149,766 - 7,157,689 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in MEX3D
48 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 19p13.3(chr19:259395-2555149)x3	copy number gain	See cases [RCV000051044]	Chr19:259395..2555149 [GRCh38] Chr19:259395..2555147 [GRCh37] Chr19:210395..2506147 [NCBI36] Chr19:19p13.3	pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:265917-8564134)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]\|See cases [RCV000052876]	Chr19:265917..8564134 [GRCh38] Chr19:265917..8629018 [GRCh37] Chr19:216917..8535018 [NCBI36] Chr19:19p13.3-13.2	pathogenic
GRCh38/hg38 19p13.3(chr19:1565575-4108128)x3	copy number gain	See cases [RCV000052878]	Chr19:1565575..4108128 [GRCh38] Chr19:1565574..4108126 [GRCh37] Chr19:1516574..4059126 [NCBI36] Chr19:19p13.3	pathogenic
GRCh38/hg38 19p13.3(chr19:259395-1952650)x3	copy number gain	See cases [RCV000052875]	Chr19:259395..1952650 [GRCh38] Chr19:259395..1952649 [GRCh37] Chr19:210395..1903649 [NCBI36] Chr19:19p13.3	pathogenic
GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	copy number gain	See cases [RCV000052575]	Chr19:233565..4699472 [GRCh38] Chr19:233565..4699484 [GRCh37] Chr19:184565..4650484 [NCBI36] Chr19:19p13.3	pathogenic
GRCh38/hg38 19p13.3(chr19:945098-1972299)x1	copy number loss	See cases [RCV000053938]	Chr19:945098..1972299 [GRCh38] Chr19:945098..1972298 [GRCh37] Chr19:896098..1923298 [NCBI36] Chr19:19p13.3	pathogenic
GRCh38/hg38 19p13.3(chr19:1549144-4288720)x1	copy number loss	See cases [RCV000134795]	Chr19:1549144..4288720 [GRCh38] Chr19:1549143..4288717 [GRCh37] Chr19:1500143..4239717 [NCBI36] Chr19:19p13.3	pathogenic
GRCh38/hg38 19p13.3(chr19:421537-2897921)x3	copy number gain	See cases [RCV000134894]	Chr19:421537..2897921 [GRCh38] Chr19:421537..2897919 [GRCh37] Chr19:372537..2848919 [NCBI36] Chr19:19p13.3	likely pathogenic
GRCh38/hg38 19p13.3(chr19:259395-2068507)x3	copy number gain	See cases [RCV000135433]	Chr19:259395..2068507 [GRCh38] Chr19:259395..2068506 [GRCh37] Chr19:210395..2019506 [NCBI36] Chr19:19p13.3	pathogenic
GRCh38/hg38 19p13.3(chr19:1351163-2555149)x3	copy number gain	See cases [RCV000136880]	Chr19:1351163..2555149 [GRCh38] Chr19:1351162..2555147 [GRCh37] Chr19:1302162..2506147 [NCBI36] Chr19:19p13.3	uncertain significance
GRCh38/hg38 19p13.3(chr19:275925-1892276)x3	copy number gain	See cases [RCV000141358]	Chr19:275925..1892276 [GRCh38] Chr19:275925..1892275 [GRCh37] Chr19:226925..1843275 [NCBI36] Chr19:19p13.3	pathogenic
GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	copy number gain	See cases [RCV000142627]	Chr19:259395..6795611 [GRCh38] Chr19:259395..6795622 [GRCh37] Chr19:210395..6746622 [NCBI36] Chr19:19p13.3	pathogenic
GRCh37/hg19 19p13.3(chr19:277373-2555164)x3	copy number gain	See cases [RCV000240507]	Chr19:277373..2555164 [GRCh37] Chr19:19p13.3	pathogenic
GRCh37/hg19 19p13.3(chr19:260911-1965786)x3	copy number gain	See cases [RCV000511452]	Chr19:260911..1965786 [GRCh37] Chr19:19p13.3	likely pathogenic
NM_203304.4(MEX3D):c.1211C>A (p.Ala404Asp)	single nucleotide variant	not specified [RCV004317096]	Chr19:1556308 [GRCh38] Chr19:1556307 [GRCh37] Chr19:19p13.3	uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	copy number gain	See cases [RCV000512296]	Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
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(chr19:259395-3152419)	copy number gain	Global developmental delay [RCV000626520]	Chr19:259395..3152419 [GRCh37] Chr19:19p13.3	likely pathogenic
NM_203304.4(MEX3D):c.302C>T (p.Pro101Leu)	single nucleotide variant	not specified [RCV004309828]	Chr19:1567757 [GRCh38] Chr19:1567756 [GRCh37] Chr19:19p13.3	uncertain significance
GRCh37/hg19 19p13.3(chr19:260911-3200875)x3	copy number gain	not provided [RCV000684094]	Chr19:260911..3200875 [GRCh37] Chr19:19p13.3	pathogenic
GRCh37/hg19 19p13.3-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
NC_000019.9:g.1406030_3597207dup	duplication	Neurodevelopmental disorder [RCV000787423]	Chr19:1406030..3597207 [GRCh37] Chr19:19p13.3	uncertain significance
GRCh37/hg19 19p13.3(chr19:1342624-1817866)x3	copy number gain	not provided [RCV000846077]	Chr19:1342624..1817866 [GRCh37] Chr19:19p13.3	uncertain significance
GRCh37/hg19 19p13.3(chr19:260911-4788357)x3	copy number gain	not provided [RCV000846988]	Chr19:260911..4788357 [GRCh37] Chr19:19p13.3	pathogenic
NM_203304.4(MEX3D):c.1204C>T (p.Pro402Ser)	single nucleotide variant	not specified [RCV004322425]	Chr19:1556315 [GRCh38] Chr19:1556314 [GRCh37] Chr19:19p13.3	uncertain significance
NC_000019.9:g.(?_589946)_(4818389_?)dup	duplication	not provided [RCV003105391]	Chr19:589946..4818389 [GRCh37] Chr19:19p13.3	uncertain significance
NC_000019.9:g.(?_589946)_(2151333_?)dup	duplication	Cyclical neutropenia [RCV003107569]	Chr19:589946..2151333 [GRCh37] Chr19:19p13.3	uncertain significance
NM_203304.4(MEX3D):c.1595G>A (p.Arg532His)	single nucleotide variant	not specified [RCV004282220]	Chr19:1555924 [GRCh38] Chr19:1555923 [GRCh37] Chr19:19p13.3	uncertain significance
NM_203304.4(MEX3D):c.1123A>C (p.Lys375Gln)	single nucleotide variant	not specified [RCV004301276]	Chr19:1556396 [GRCh38] Chr19:1556395 [GRCh37] Chr19:19p13.3	uncertain significance
GRCh37/hg19 19p13.3(chr19:260911-3501271)x3	copy number gain	not provided [RCV001007025]	Chr19:260911..3501271 [GRCh37] Chr19:19p13.3	pathogenic
GRCh37/hg19 19p13.3(chr19:260912-4384674)x3	copy number gain	See cases [RCV001007443]	Chr19:260912..4384674 [GRCh37] Chr19:19p13.3	pathogenic
GRCh37/hg19 19p13.3(chr19:1075192-2256387)x3	copy number gain	not provided [RCV001007026]	Chr19:1075192..2256387 [GRCh37] Chr19:19p13.3	likely pathogenic
GRCh37/hg19 19p13.3(chr19:260911-2256387)x3	copy number gain	See cases [RCV002285065]	Chr19:260911..2256387 [GRCh37] Chr19:19p13.3	pathogenic
NC_000019.9:g.(?_589946)_(1650247_?)dup	duplication	not provided [RCV001940167]	Chr19:589946..1650247 [GRCh37] Chr19:19p13.3	uncertain significance
NC_000019.9:g.(?_589946)_(5696788_?)dup	duplication	not provided [RCV003113597]	Chr19:589946..5696788 [GRCh37] Chr19:19p13.3	uncertain significance
NC_000019.9:g.(?_1206913)_(1650247_?)del	deletion	Cerebral creatine deficiency syndrome [RCV003119440]	Chr19:1206913..1650247 [GRCh37] Chr19:19p13.3	pathogenic
NC_000019.9:g.(?_1456055)_(2456931_?)dup	duplication	Progressive myoclonic epilepsy type 9 [RCV003122897]	Chr19:1456055..2456931 [GRCh37] Chr19:19p13.3	uncertain significance
NM_203304.4(MEX3D):c.495C>G (p.Asp165Glu)	single nucleotide variant	not specified [RCV004310574]	Chr19:1567564 [GRCh38] Chr19:1567563 [GRCh37] Chr19:19p13.3	likely benign
GRCh37/hg19 19p13.3(chr19:1356893-1676446)x1	copy number loss	not provided [RCV002474821]	Chr19:1356893..1676446 [GRCh37] Chr19:19p13.3	uncertain significance
NM_203304.4(MEX3D):c.1570C>T (p.Arg524Cys)	single nucleotide variant	not specified [RCV004216219]	Chr19:1555949 [GRCh38] Chr19:1555948 [GRCh37] Chr19:19p13.3	uncertain significance
NM_203304.4(MEX3D):c.1433G>A (p.Arg478His)	single nucleotide variant	not specified [RCV004122729]	Chr19:1556086 [GRCh38] Chr19:1556085 [GRCh37] Chr19:19p13.3	uncertain significance
NM_203304.4(MEX3D):c.1127C>T (p.Thr376Ile)	single nucleotide variant	not specified [RCV004242566]	Chr19:1556392 [GRCh38] Chr19:1556391 [GRCh37] Chr19:19p13.3	uncertain significance
NM_203304.4(MEX3D):c.1744G>C (p.Glu582Gln)	single nucleotide variant	not specified [RCV004111923]	Chr19:1555775 [GRCh38] Chr19:1555774 [GRCh37] Chr19:19p13.3	uncertain significance
NM_203304.4(MEX3D):c.1544C>T (p.Pro515Leu)	single nucleotide variant	not specified [RCV004124705]	Chr19:1555975 [GRCh38] Chr19:1555974 [GRCh37] Chr19:19p13.3	uncertain significance
NM_203304.4(MEX3D):c.1300T>C (p.Phe434Leu)	single nucleotide variant	not specified [RCV004188339]	Chr19:1556219 [GRCh38] Chr19:1556218 [GRCh37] Chr19:19p13.3	uncertain significance
NM_203304.4(MEX3D):c.152A>C (p.Glu51Ala)	single nucleotide variant	not specified [RCV004121894]	Chr19:1567907 [GRCh38] Chr19:1567906 [GRCh37] Chr19:19p13.3	uncertain significance
NM_203304.4(MEX3D):c.1310A>T (p.Glu437Val)	single nucleotide variant	not specified [RCV004142778]	Chr19:1556209 [GRCh38] Chr19:1556208 [GRCh37] Chr19:19p13.3	uncertain significance
NM_203304.4(MEX3D):c.1028G>C (p.Gly343Ala)	single nucleotide variant	not specified [RCV004133009]	Chr19:1556491 [GRCh38] Chr19:1556490 [GRCh37] Chr19:19p13.3	uncertain significance
NM_203304.4(MEX3D):c.619G>A (p.Ala207Thr)	single nucleotide variant	not specified [RCV004128576]	Chr19:1556900 [GRCh38] Chr19:1556899 [GRCh37] Chr19:19p13.3	uncertain significance
NM_203304.4(MEX3D):c.1266C>A (p.Ser422Arg)	single nucleotide variant	not specified [RCV004199019]	Chr19:1556253 [GRCh38] Chr19:1556252 [GRCh37] Chr19:19p13.3	uncertain significance
NM_203304.4(MEX3D):c.1592G>C (p.Arg531Pro)	single nucleotide variant	not specified [RCV004131905]	Chr19:1555927 [GRCh38] Chr19:1555926 [GRCh37] Chr19:19p13.3	uncertain significance
NM_203304.4(MEX3D):c.418C>T (p.Arg140Trp)	single nucleotide variant	not specified [RCV004124605]	Chr19:1567641 [GRCh38] Chr19:1567640 [GRCh37] Chr19:19p13.3	uncertain significance
NM_203304.4(MEX3D):c.1318G>C (p.Gly440Arg)	single nucleotide variant	not specified [RCV004086931]	Chr19:1556201 [GRCh38] Chr19:1556200 [GRCh37] Chr19:19p13.3	uncertain significance
NM_203304.4(MEX3D):c.1153A>C (p.Thr385Pro)	single nucleotide variant	not specified [RCV004096453]	Chr19:1556366 [GRCh38] Chr19:1556365 [GRCh37] Chr19:19p13.3	uncertain significance
NM_203304.4(MEX3D):c.1220C>T (p.Ala407Val)	single nucleotide variant	not specified [RCV004072480]	Chr19:1556299 [GRCh38] Chr19:1556298 [GRCh37] Chr19:19p13.3	uncertain significance
NM_203304.4(MEX3D):c.407C>T (p.Pro136Leu)	single nucleotide variant	not specified [RCV004098302]	Chr19:1567652 [GRCh38] Chr19:1567651 [GRCh37] Chr19:19p13.3	uncertain significance
NM_203304.4(MEX3D):c.350C>A (p.Pro117His)	single nucleotide variant	not specified [RCV004232900]	Chr19:1567709 [GRCh38] Chr19:1567708 [GRCh37] Chr19:19p13.3	uncertain significance
NM_203304.4(MEX3D):c.434A>C (p.Asp145Ala)	single nucleotide variant	not specified [RCV004117642]	Chr19:1567625 [GRCh38] Chr19:1567624 [GRCh37] Chr19:19p13.3	uncertain significance
NM_203304.4(MEX3D):c.136C>T (p.Pro46Ser)	single nucleotide variant	not specified [RCV004168612]	Chr19:1567923 [GRCh38] Chr19:1567922 [GRCh37] Chr19:19p13.3	uncertain significance
NM_203304.4(MEX3D):c.1781C>T (p.Pro594Leu)	single nucleotide variant	not specified [RCV004099506]	Chr19:1555738 [GRCh38] Chr19:1555737 [GRCh37] Chr19:19p13.3	uncertain significance
NM_203304.4(MEX3D):c.119A>G (p.Gln40Arg)	single nucleotide variant	not specified [RCV004222607]	Chr19:1567940 [GRCh38] Chr19:1567939 [GRCh37] Chr19:19p13.3	uncertain significance
NM_203304.4(MEX3D):c.283G>A (p.Gly95Ser)	single nucleotide variant	not specified [RCV004187808]	Chr19:1567776 [GRCh38] Chr19:1567775 [GRCh37] Chr19:19p13.3	uncertain significance
NM_203304.4(MEX3D):c.*192C>A	single nucleotide variant	not specified [RCV004226870]	Chr19:1555371 [GRCh38] Chr19:1555370 [GRCh37] Chr19:19p13.3	uncertain significance
NM_203304.4(MEX3D):c.518G>A (p.Arg173His)	single nucleotide variant	not specified [RCV004092287]	Chr19:1567541 [GRCh38] Chr19:1567540 [GRCh37] Chr19:19p13.3	uncertain significance
NM_203304.4(MEX3D):c.86G>T (p.Gly29Val)	single nucleotide variant	not specified [RCV004193122]	Chr19:1567973 [GRCh38] Chr19:1567972 [GRCh37] Chr19:19p13.3	uncertain significance
NM_203304.4(MEX3D):c.1531C>T (p.Pro511Ser)	single nucleotide variant	not specified [RCV004197838]	Chr19:1555988 [GRCh38] Chr19:1555987 [GRCh37] Chr19:19p13.3	uncertain significance
NM_203304.4(MEX3D):c.725C>T (p.Ser242Leu)	single nucleotide variant	not specified [RCV004110783]	Chr19:1556794 [GRCh38] Chr19:1556793 [GRCh37] Chr19:19p13.3	uncertain significance
NM_203304.4(MEX3D):c.1147C>A (p.Pro383Thr)	single nucleotide variant	not specified [RCV004123493]	Chr19:1556372 [GRCh38] Chr19:1556371 [GRCh37] Chr19:19p13.3	uncertain significance
NM_203304.4(MEX3D):c.1553C>G (p.Pro518Arg)	single nucleotide variant	not specified [RCV004186849]	Chr19:1555966 [GRCh38] Chr19:1555965 [GRCh37] Chr19:19p13.3	uncertain significance
NM_203304.4(MEX3D):c.1276G>A (p.Gly426Ser)	single nucleotide variant	not specified [RCV004215740]	Chr19:1556243 [GRCh38] Chr19:1556242 [GRCh37] Chr19:19p13.3	uncertain significance
NM_203304.4(MEX3D):c.158A>C (p.Asp53Ala)	single nucleotide variant	not specified [RCV004121896]	Chr19:1567901 [GRCh38] Chr19:1567900 [GRCh37] Chr19:19p13.3	uncertain significance
NM_203304.4(MEX3D):c.1778C>T (p.Ala593Val)	single nucleotide variant	not specified [RCV004075370]	Chr19:1555741 [GRCh38] Chr19:1555740 [GRCh37] Chr19:19p13.3	uncertain significance
NM_203304.4(MEX3D):c.127G>A (p.Ala43Thr)	single nucleotide variant	not specified [RCV004083432]	Chr19:1567932 [GRCh38] Chr19:1567931 [GRCh37] Chr19:19p13.3	uncertain significance
NC_000019.9:g.(?_1206913)_(3771740_?)dup	duplication	not provided [RCV003154903]	Chr19:1206913..3771740 [GRCh37] Chr19:19p13.3	uncertain significance
NM_203304.4(MEX3D):c.79G>A (p.Asp27Asn)	single nucleotide variant	not specified [RCV004276640]	Chr19:1567980 [GRCh38] Chr19:1567979 [GRCh37] Chr19:19p13.3	uncertain significance
NM_203304.4(MEX3D):c.1417T>A (p.Trp473Arg)	single nucleotide variant	not specified [RCV004262003]	Chr19:1556102 [GRCh38] Chr19:1556101 [GRCh37] Chr19:19p13.3	uncertain significance
NM_203304.4(MEX3D):c.359C>T (p.Ala120Val)	single nucleotide variant	not specified [RCV004256163]	Chr19:1567700 [GRCh38] Chr19:1567699 [GRCh37] Chr19:19p13.3	uncertain significance
NM_203304.4(MEX3D):c.115G>A (p.Ala39Thr)	single nucleotide variant	not specified [RCV004251704]	Chr19:1567944 [GRCh38] Chr19:1567943 [GRCh37] Chr19:19p13.3	uncertain significance
NM_203304.4(MEX3D):c.1415T>A (p.Ile472Asn)	single nucleotide variant	not specified [RCV004262002]	Chr19:1556104 [GRCh38] Chr19:1556103 [GRCh37] Chr19:19p13.3	uncertain significance
NM_203304.4(MEX3D):c.433G>A (p.Asp145Asn)	single nucleotide variant	not specified [RCV004318812]	Chr19:1567626 [GRCh38] Chr19:1567625 [GRCh37] Chr19:19p13.3	uncertain significance
NM_203304.4(MEX3D):c.1453T>C (p.Phe485Leu)	single nucleotide variant	not specified [RCV004342416]	Chr19:1556066 [GRCh38] Chr19:1556065 [GRCh37] Chr19:19p13.3	uncertain significance
NM_203304.4(MEX3D):c.1745A>C (p.Glu582Ala)	single nucleotide variant	not specified [RCV004354408]	Chr19:1555774 [GRCh38] Chr19:1555773 [GRCh37] Chr19:19p13.3	uncertain significance
GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	copy number gain	not provided [RCV003485190]	Chr19:260912..7246777 [GRCh37] Chr19:19p13.3-13.2	pathogenic
NM_203304.4(MEX3D):c.1553C>T (p.Pro518Leu)	single nucleotide variant	not specified [RCV004416954]	Chr19:1555966 [GRCh38] Chr19:1555965 [GRCh37] Chr19:19p13.3	uncertain significance
NM_203304.4(MEX3D):c.1261G>T (p.Ala421Ser)	single nucleotide variant	not specified [RCV004416950]	Chr19:1556258 [GRCh38] Chr19:1556257 [GRCh37] Chr19:19p13.3	uncertain significance
NM_203304.4(MEX3D):c.1298C>T (p.Ala433Val)	single nucleotide variant	not specified [RCV004416952]	Chr19:1556221 [GRCh38] Chr19:1556220 [GRCh37] Chr19:19p13.3	uncertain significance
NM_203304.4(MEX3D):c.1571G>T (p.Arg524Leu)	single nucleotide variant	not specified [RCV004416955]	Chr19:1555948 [GRCh38] Chr19:1555947 [GRCh37] Chr19:19p13.3	uncertain significance
NM_203304.4(MEX3D):c.1751G>A (p.Ser584Asn)	single nucleotide variant	not specified [RCV004416958]	Chr19:1555768 [GRCh38] Chr19:1555767 [GRCh37] Chr19:19p13.3	uncertain significance
NM_203304.4(MEX3D):c.443C>T (p.Ala148Val)	single nucleotide variant	not specified [RCV004416961]	Chr19:1567616 [GRCh38] Chr19:1567615 [GRCh37] Chr19:19p13.3	uncertain significance
NM_203304.4(MEX3D):c.1610C>T (p.Pro537Leu)	single nucleotide variant	not specified [RCV004416956]	Chr19:1555909 [GRCh38] Chr19:1555908 [GRCh37] Chr19:19p13.3	uncertain significance
NM_203304.4(MEX3D):c.1763C>A (p.Pro588His)	single nucleotide variant	not specified [RCV004416959]	Chr19:1555756 [GRCh38] Chr19:1555755 [GRCh37] Chr19:19p13.3	uncertain significance
NM_203304.4(MEX3D):c.347C>T (p.Ala116Val)	single nucleotide variant	not specified [RCV004416960]	Chr19:1567712 [GRCh38] Chr19:1567711 [GRCh37] Chr19:19p13.3	uncertain significance
NM_203304.4(MEX3D):c.772G>A (p.Gly258Arg)	single nucleotide variant	not specified [RCV004416962]	Chr19:1556747 [GRCh38] Chr19:1556746 [GRCh37] Chr19:19p13.3	uncertain significance
NM_203304.4(MEX3D):c.1297G>A (p.Ala433Thr)	single nucleotide variant	not specified [RCV004416951]	Chr19:1556222 [GRCh38] Chr19:1556221 [GRCh37] Chr19:19p13.3	likely benign
NM_203304.4(MEX3D):c.1511G>T (p.Arg504Leu)	single nucleotide variant	not specified [RCV004416953]	Chr19:1556008 [GRCh38] Chr19:1556007 [GRCh37] Chr19:19p13.3	uncertain significance
NM_203304.4(MEX3D):c.16G>A (p.Gly6Ser)	single nucleotide variant	not specified [RCV004416957]	Chr19:1568043 [GRCh38] Chr19:1568042 [GRCh37] Chr19:19p13.3	uncertain significance
NM_203304.4(MEX3D):c.787G>T (p.Ala263Ser)	single nucleotide variant	not specified [RCV004416963]	Chr19:1556732 [GRCh38] Chr19:1556731 [GRCh37] Chr19:19p13.3	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	909
Count of miRNA genes:	324
Interacting mature miRNAs:	345
Transcripts:	ENST00000388824, ENST00000402693, ENST00000605173
Prediction methods:	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

1407

809

661

174

206

2956

678

1114

181

1345

1271

107

759

1564

Low

1031

1917

1063

448

1442

384

1374

1484

2607

236

111

340

445

1198

Below cutoff

262

294

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001174118	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_203304	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB062435	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AB107353	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC005943	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC027307	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF458084	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY950680	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC113384	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC113741	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CB218195	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CB218196	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471139	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068259	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DQ225272	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DQ225273	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000402693 ⟹ ENSP00000384398

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	1,554,672 - 1,568,325 (-)	Ensembl

RefSeq Acc Id:

ENST00000605173 ⟹ ENSP00000475059

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	1,554,672 - 1,567,530 (-)	Ensembl

RefSeq Acc Id:

NM_001174118 ⟹ NP_001167589

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	1,554,672 - 1,568,325 (-)	NCBI
GRCh37	19	1,554,668 - 1,568,057 (-)	RGD
Celera	19	1,489,519 - 1,502,909 (-)	RGD
HuRef	19	1,328,987 - 1,331,058 (-)	RGD
T2T-CHM13v2.0	19	1,525,487 - 1,539,144 (-)	NCBI

Sequence:

show sequence

GCCGCCGCCGCCTCGGCCGCCGAGGAGCCGCCGCCGCCGTCGCCGCCGCCGCCGAGCCGCAGCC
AGAGTCGCTGCCGCCGCCCGGCCCGGCCCGGCCCGGCCCCGAGCAGCCCCGCGCCGCCGCCGCC
CCGCCCGCCCGGCCCCCCGTGCCCGCCCCCGCCGCTGGATGCAGGCGGCCGGCGGCCCAGCTCG
CAGAGGCGGAGGGCGGCGCGGGCGGCGGCGGCGGCGCGGGCGGCAGGAGCGCGGGCCCCAGCGC
TAGCTCCCGCCATGCCCAGCTCGCTCGGCCAGCCCGACGGCGGCGGGGGCGGGGGCGGCGGCGG
CGGCGGCGTGGGGGCGGCGGGGGAGGACCCCGGACCCGGACCTGCGCCCCCGCCCGAGGGCGCC
CAGGAGGCCGCGCCCGCGCCCCGGCCGCCGCCCGAACCCGACGACGCGGCCGCCGCGCTCCGCC
TGGCGCTGGACCAGCTGTCGGCGCTCGGGCTGGGGGGCGCTGGCGACACGGACGAGGAGGGGGC
GGCCGGGGACGGCGCAGCGGCGGCGGGGGGCGCGGACGGCGGGGCGGCTCCGGAGCCTGTGCCC
CCCGACGGACCTGAGGCCGGCGCGCCCCCGACCCTGGCCCCCGCCGTGGCCCCCGGGTCGCTGC
CGCTGCTGGACCCCAACGCGAGTCCCCCGCCGCCGCCGCCGCCCCGGCCGTCGCCCCCCGACGT
GTTCGCGGGCTTCGCGCCCCACCCCGCGGCCCTGGGGCCCCCGACGCTGCTGGCCGACCAGATG
AGCGTGATCGGCAGCCGCAAGAAAAGCGTCAACATGACCGAGTGCGTCCCGGTGCCCAGCTCCG
AGCACGTCGCCGAGATCGTGGGTCGCCAGGGCTGCAAGATCAAGGCCCTGCGGGCCAAGACAAA
CACCTACATCAAGACCCCAGTGCGGGGCGAGGAGCCGGTCTTCATCGTGACCGGCCGGAAGGAG
GACGTGGAGATGGCCAAGCGTGAGATCCTGTCGGCGGCCGAACACTTCTCCATCATCCGCGCCA
CGCGCAGCAAGGCCGGGGGTCTGCCCGGCGCCGCCCAGGGCCCGCCCAACCTTCCCGGACAGAC
CACCATCCAGGTGCGCGTGCCCTACCGGGTGGTGGGGCTGGTGGTGGGGCCCAAGGGCGCCACC
ATCAAGCGCATCCAGCAGCGGACGCACACCTACATCGTGACGCCCGGGCGCGACAAGGAGCCGG
TGTTCGCGGTCACTGGGATGCCCGAGAACGTGGACCGCGCGCGCGAGGAGATCGAGGCGCACAT
CACGCTGCGCACTGGCGCCTTCACCGACGCGGGCCCCGACAGCGACTTCCACGCCAACGGCACC
GACGTCTGCCTGGACCTGCTCGGGGCGGCCGCCAGCCTCTGGGCCAAGACCCCCAACCAGGGAC
GACGGCCCCCCACGGCCACGGCCGGCCTCCGCGGGGACACGGCCCTGGGCGCCCCCAGCGCCCC
CGAGGCCTTCTACGCGGGCAGCCGCGGCGGCCCCTCCGTGCCGGACCCAGGCCCCGCCAGCCCC
TACAGCGGCTCCGGCAACGGGGGCTTCGCCTTCGGCGCGGAGGGTCCCGGTGCCCCGGTGGGGA
CGGCCGCCCCCGACGACTGCGACTTCGGCTTCGACTTCGACTTCCTGGCGCTGGACCTGACCGT
GCCCGCCGCGGCCACCATCTGGGCGCCTTTTGAGCGCGCCGCCCCCTTGCCCGCCTTCAGCGGC
TGCTCCACGGTCAACGGAGCCCCGGGACCTCCCGCCGCCGGCGCCCGGCGCAGCAGTGGGGCCG
GGACCCCCCGCCACTCGCCCACGCTGCCCGAGCCCGGCGGCCTCCGCCTGGAGCTCCCGCTGTC
TCGCCGTGGCGCCCCGGACCCGGTGGGCGCGCTGTCCTGGCGACCCCCGCAGGGCCCCGTATCC
TTCCCAGGCGGCGCCGCCTTCTCCACGGCCACCTCGCTGCCCAGCAGCCCCGCGGCCGCCGCCT
GCGCCCCCCTGGACTCCGGCGCCTCCGAGAACAGCCGCAAGCCCCCTTCGGCGTCCTCGGCCCC
GGCCCTGGCGCGAGAGTGCGTGGTGTGCGCCGAGGGCGAGGTGATGGCTGCGCTGGTCCCCTGC
GGCCACAACCTCTTCTGCATGGACTGCGCCGTCCGCATCTGCGGCAAGAGCGAGCCCGAGTGTC
CCGCCTGCCGCACGCCGGCCACCCAGGCCATTCGCGTGGAGACGGAGACCCCGCAGCCCGGCGG
CGCCTCAGCCCTTCAACGACAGTATTGAGTGGTCAGGTTACAATAAACCGGAGAGAAAAGGTCC
GCTTGCACTTTTTTTAGTTTTCTTATTTTTAGACACCCCTCCCCTCCAGGGTGATCTTTAAAAA
AGCAAAACAAAAAACACGACTTTTCCAGCGCTCAGCGTTTTTTCCTTTCGTCCGAAGCCGTTTT
CTGATTTGACTTTTCTCGCCGGCCGGTCTCAGGCCGCACAGACGTTCCAGAGGAGGAGGGTGAC
ATTTTTACTCCCTTTTTGGGGCTAACCATTTATGCTTTTGTACATCAACCGTGCGCGGCCGGAG
GGGGCAGGGGGGCGGGGGCGAGGGGCGTTCCAATCAAATTTCTAACTTTCTGTTAATTATTAAT
CCCCTTTTTACTGCGGTTTCTGTTGTCATTTTTAAAATTTTTTTAATTTTTTTTTTTTTTTACT
TTTACTTTTTACCTCTTGTGTATATGTAGGGAATTTATAGGGAAATATGTACTTTATGGAATAA
ATTTTAAGAACTAAAATATATTTTATTTTAAATAAAGTAATGGACCTTTAATCTTACACAGCTA
AATTACTGATTATATATTTGCTGAGCTGATTTAAGGGTTAAAAAAATTGTATCAAGAGTTTTAT
TTTTTGACTTCAAAGCCTTCTTAATAAAGCCTCTTTTCTACATGTGA

hide sequence

RefSeq Acc Id:

NM_203304 ⟹ NP_976049

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	1,554,672 - 1,568,325 (-)	NCBI
GRCh37	19	1,554,668 - 1,568,057 (-)	RGD
Build 36	19	1,505,668 - 1,519,057 (-)	NCBI Archive
Celera	19	1,489,519 - 1,502,909 (-)	RGD
HuRef	19	1,328,987 - 1,331,058 (-)	RGD
T2T-CHM13v2.0	19	1,525,487 - 1,539,144 (-)	NCBI

Sequence:

show sequence

GCCGCCGCCGCCTCGGCCGCCGAGGAGCCGCCGCCGCCGTCGCCGCCGCCGCCGAGCCGCAGCC
AGAGTCGCTGCCGCCGCCCGGCCCGGCCCGGCCCGGCCCCGAGCAGCCCCGCGCCGCCGCCGCC
CCGCCCGCCCGGCCCCCCGTGCCCGCCCCCGCCGCTGGATGCAGGCGGCCGGCGGCCCAGCTCG
CAGAGGCGGAGGGCGGCGCGGGCGGCGGCGGCGGCGCGGGCGGCAGGAGCGCGGGCCCCAGCGC
TAGCTCCCGCCATGCCCAGCTCGCTCGGCCAGCCCGACGGCGGCGGGGGCGGGGGCGGCGGCGG
CGGCGGCGTGGGGGCGGCGGGGGAGGACCCCGGACCCGGACCTGCGCCCCCGCCCGAGGGCGCC
CAGGAGGCCGCGCCCGCGCCCCGGCCGCCGCCCGAACCCGACGACGCGGCCGCCGCGCTCCGCC
TGGCGCTGGACCAGCTGTCGGCGCTCGGGCTGGGGGGCGCTGGCGACACGGACGAGGAGGGGGC
GGCCGGGGACGGCGCAGCGGCGGCGGGGGGCGCGGACGGCGGGGCGGCTCCGGAGCCTGTGCCC
CCCGACGGACCTGAGGCCGGCGCGCCCCCGACCCTGGCCCCCGCCGTGGCCCCCGGGTCGCTGC
CGCTGCTGGACCCCAACGCGAGTCCCCCGCCGCCGCCGCCGCCCCGGCCGTCGCCCCCCGACGT
GTTCGCGGGCTTCGCGCCCCACCCCGCGGCCCTGGGGCCCCCGACGCTGCTGGCCGACCAGATG
AGCGTGATCGGCAGCCGCAAGAAAAGCGTCAACATGACCGAGTGCGTCCCGGTGCCCAGCTCCG
AGCACGTCGCCGAGATCGTGGGTCGCCAGGGCTGCAAGATCAAGGCCCTGCGGGCCAAGACAAA
CACCTACATCAAGACCCCAGTGCGGGGCGAGGAGCCGGTCTTCATCGTGACCGGCCGGAAGGAG
GACGTGGAGATGGCCAAGCGTGAGATCCTGTCGGCGGCCGAACACTTCTCCATCATCCGCGCCA
CGCGCAGCAAGGCCGGGGGTCTGCCCGGCGCCGCCCAGGGCCCGCCCAACCTTCCCGGACAGAC
CACCATCCAGGTGCGCGTGCCCTACCGGGTGGTGGGGCTGGTGGTGGGGCCCAAGGGCGCCACC
ATCAAGCGCATCCAGCAGCGGACGCACACCTACATCGTGACGCCCGGGCGCGACAAGGAGCCGG
TGTTCGCGGTCACTGGGATGCCCGAGAACGTGGACCGCGCGCGCGAGGAGATCGAGGCGCACAT
CACGCTGCGCACTGGCGCCTTCACCGACGCGGGCCCCGACAGCGACTTCCACGCCAACGGCACC
GACGTCTGCCTGGACCTGCTCGGGGCGGCCGCCAGCCTCTGGGCCAAGACCCCCAACCAGGGAC
GACGGCCCCCCACGGCCACGGCCGGCCTCCGCGGGGACACGGCCCTGGGCGCCCCCAGCGCCCC
CGAGGCCTTCTACGCGGGCAGCCGCGGCGGCCCCTCCGTGCCGGACCCAGGCCCCGCCAGCCCC
TACAGCGGCTCCGGCAACGGGGGCTTCGCCTTCGGCGCGGAGGGTCCCGGTGCCCCGGTGGGGA
CGGCCGCCCCCGACGACTGCGACTTCGGCTTCGACTTCGACTTCCTGGCGCTGGACCTGACCGT
GCCCGCCGCGGCCACCATCTGGGCGCCTTTTGAGCGCGCCGCCCCCTTGCCCGCCTTCAGCGGC
TGCTCCACGGTCAACGGAGCCCCGGGACCTCCCGCCGCCGGCGCCCGGCGCAGCAGTGGGGCCG
GGACCCCCCGCCACTCGCCCACGCTGCCCGAGCCCGGCGGCCTCCGCCTGGAGCTCCCGCTGTC
TCGCCGTGGCGCCCCGGACCCGGTGGGCGCGCTGTCCTGGCGACCCCCGCAGGGCCCCGTATCC
TTCCCAGGCGGCGCCGCCTTCTCCACGGCCACCTCGCTGCCCAGCAGCCCCGCGGCCGCCGCCT
GCGCCCCCCTGGACTCCGGCGCCTCCGAGAACAGCCGCAAGCCCCCTTCGGCGTCCTCGGCCCC
GGCCCTGGCGCGAGAGTGCGTGGTGTGCGCCGAGGGCGAGGTGATGGCTGCGCTGGTCCCCTGC
GGCCACAACCTCTTCTGCATGGACTGCGCCGTCCGCATCTGCGGCAAGAGCGAGCCCGAGTGTC
CCGCCTGCCGCACGCCGGCCACCCAGGCCATTCATATCTTTTCCTAGAGCGCGGACCACCACGT
GGCCGGGGCCATCTGCGGGGGCCAGGGGTGGGCGCGGGAGACGGGGCGGGACCCGGGGTGGGAG
AGGGACGGGGAGGGGGCGAGGGGCGGAGGCCGAGGGGGCAGGGGGGTGGGCGGCGGCCAGTGTT
TACAGATGAGCTTTAACTGCCGCCTCAGGCGTGGAGACGGAGACCCCGCAGCCCGGCGGCGCCT
CAGCCCTTCAACGACAGTATTGAGTGGTCAGGTTACAATAAACCGGAGAGAAAAGGTCCGCTTG
CACTTTTTTTAGTTTTCTTATTTTTAGACACCCCTCCCCTCCAGGGTGATCTTTAAAAAAGCAA
AACAAAAAACACGACTTTTCCAGCGCTCAGCGTTTTTTCCTTTCGTCCGAAGCCGTTTTCTGAT
TTGACTTTTCTCGCCGGCCGGTCTCAGGCCGCACAGACGTTCCAGAGGAGGAGGGTGACATTTT
TACTCCCTTTTTGGGGCTAACCATTTATGCTTTTGTACATCAACCGTGCGCGGCCGGAGGGGGC
AGGGGGGCGGGGGCGAGGGGCGTTCCAATCAAATTTCTAACTTTCTGTTAATTATTAATCCCCT
TTTTACTGCGGTTTCTGTTGTCATTTTTAAAATTTTTTTAATTTTTTTTTTTTTTTACTTTTAC
TTTTTACCTCTTGTGTATATGTAGGGAATTTATAGGGAAATATGTACTTTATGGAATAAATTTT
AAGAACTAAAATATATTTTATTTTAAATAAAGTAATGGACCTTTAATCTTACACAGCTAAATTA
CTGATTATATATTTGCTGAGCTGATTTAAGGGTTAAAAAAATTGTATCAAGAGTTTTATTTTTT
GACTTCAAAGCCTTCTTAATAAAGCCTCTTTTCTACATGTGA

hide sequence

Protein Sequences


Protein RefSeqs	NP_001167589	(Get FASTA)	NCBI Sequence Viewer
	NP_976049	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAI13385	(Get FASTA)	NCBI Sequence Viewer
	AAI13742	(Get FASTA)	NCBI Sequence Viewer
	AAQ04763	(Get FASTA)	NCBI Sequence Viewer
	AAY34148	(Get FASTA)	NCBI Sequence Viewer
	ABB04031	(Get FASTA)	NCBI Sequence Viewer
	ABB04032	(Get FASTA)	NCBI Sequence Viewer
	BAB93498	(Get FASTA)	NCBI Sequence Viewer
	BAC67658	(Get FASTA)	NCBI Sequence Viewer
	EAW69483	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000384398
	ENSP00000384398.3
	ENSP00000475059.1
GenBank Protein	Q86XN8	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_976049 ⟸ NM_203304
- Peptide Label:	isoform 1
- UniProtKB:	E9PAL6 (UniProtKB/Swiss-Prot), A1L023 (UniProtKB/Swiss-Prot), A0PJL8 (UniProtKB/Swiss-Prot), Q71M49 (UniProtKB/Swiss-Prot), Q86XN8 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MPSSLGQPDGGGGGGGGGGGVGAAGEDPGPGPAPPPEGAQEAAPAPRPPPEPDDAAAALRLALD QLSALGLGGAGDTDEEGAAGDGAAAAGGADGGAAPEPVPPDGPEAGAPPTLAPAVAPGSLPLLD PNASPPPPPPPRPSPPDVFAGFAPHPAALGPPTLLADQMSVIGSRKKSVNMTECVPVPSSEHVA EIVGRQGCKIKALRAKTNTYIKTPVRGEEPVFIVTGRKEDVEMAKREILSAAEHFSIIRATRSK AGGLPGAAQGPPNLPGQTTIQVRVPYRVVGLVVGPKGATIKRIQQRTHTYIVTPGRDKEPVFAV TGMPENVDRAREEIEAHITLRTGAFTDAGPDSDFHANGTDVCLDLLGAAASLWAKTPNQGRRPP TATAGLRGDTALGAPSAPEAFYAGSRGGPSVPDPGPASPYSGSGNGGFAFGAEGPGAPVGTAAP DDCDFGFDFDFLALDLTVPAAATIWAPFERAAPLPAFSGCSTVNGAPGPPAAGARRSSGAGTPR HSPTLPEPGGLRLELPLSRRGAPDPVGALSWRPPQGPVSFPGGAAFSTATSLPSSPAAAACAPL DSGASENSRKPPSASSAPALARECVVCAEGEVMAALVPCGHNLFCMDCAVRICGKSEPECPACR TPATQAIHIFS hide sequence

RefSeq Acc Id:	NP_001167589 ⟸ NM_001174118
- Peptide Label:	isoform 2
- UniProtKB:	Q86XN8 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MPSSLGQPDGGGGGGGGGGGVGAAGEDPGPGPAPPPEGAQEAAPAPRPPPEPDDAAAALRLALD QLSALGLGGAGDTDEEGAAGDGAAAAGGADGGAAPEPVPPDGPEAGAPPTLAPAVAPGSLPLLD PNASPPPPPPPRPSPPDVFAGFAPHPAALGPPTLLADQMSVIGSRKKSVNMTECVPVPSSEHVA EIVGRQGCKIKALRAKTNTYIKTPVRGEEPVFIVTGRKEDVEMAKREILSAAEHFSIIRATRSK AGGLPGAAQGPPNLPGQTTIQVRVPYRVVGLVVGPKGATIKRIQQRTHTYIVTPGRDKEPVFAV TGMPENVDRAREEIEAHITLRTGAFTDAGPDSDFHANGTDVCLDLLGAAASLWAKTPNQGRRPP TATAGLRGDTALGAPSAPEAFYAGSRGGPSVPDPGPASPYSGSGNGGFAFGAEGPGAPVGTAAP DDCDFGFDFDFLALDLTVPAAATIWAPFERAAPLPAFSGCSTVNGAPGPPAAGARRSSGAGTPR HSPTLPEPGGLRLELPLSRRGAPDPVGALSWRPPQGPVSFPGGAAFSTATSLPSSPAAAACAPL DSGASENSRKPPSASSAPALARECVVCAEGEVMAALVPCGHNLFCMDCAVRICGKSEPECPACR TPATQAIRVETETPQPGGASALQRQY hide sequence

RefSeq Acc Id:

ENSP00000384398 ⟸ ENST00000402693

RefSeq Acc Id:

ENSP00000475059 ⟸ ENST00000605173

Protein Domains

KH RING-type

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q86XN8-F1-model_v2	AlphaFold	Q86XN8	1-651	view protein structure

Promoters

RGD ID:

6795474

Promoter ID:

HG_KWN:28407

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

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

Transcripts:

ENST00000355663, NM_001174118, NM_203304

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	19	1,519,279 - 1,519,779 (-)	MPROMDB

RGD ID:

7237845

Promoter ID:

EPDNEW_H24668

Type:

multiple initiation site

Name:

MEX3D_1

Description:

mex-3 RNA binding family member D

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H24669

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	1,567,493 - 1,567,553	EPDNEW

RGD ID:

7237847

Promoter ID:

EPDNEW_H24669

Type:

initiation region

Name:

MEX3D_2

Description:

mex-3 RNA binding family member D

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H24668

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	1,568,126 - 1,568,186	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:16734	AgrOrtholog
COSMIC	MEX3D	COSMIC
Ensembl Genes	ENSG00000181588	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000402693	ENTREZGENE
	ENST00000402693.5	UniProtKB/Swiss-Prot
	ENST00000605173.2	UniProtKB/TrEMBL
Gene3D-CATH	3.30.1370.10	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	3.30.40.10	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000181588	GTEx
HGNC ID	HGNC:16734	ENTREZGENE
Human Proteome Map	MEX3D	Human Proteome Map
InterPro	KH-I_MEX3_rpt1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	KH-I_MEX3_rpt2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	KH_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	KH_dom_type_1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	KH_dom_type_1_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	MEX3	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Znf_RING	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Znf_RING/FYVE/PHD	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:399664	UniProtKB/Swiss-Prot
NCBI Gene	399664	ENTREZGENE
OMIM	611009	OMIM
PANTHER	RING FINGER AND KH DOMAIN CONTAINING PROTEIN 1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	RNA-BINDING PROTEIN MEX3D	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	KH_1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	zf-C3HC4_3	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA162395829	PharmGKB
PROSITE	KH_TYPE_1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ZF_RING_2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	SM00322	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	RING/U-box	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SSF54791	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A0PJL8	ENTREZGENE
	A1L023	ENTREZGENE
	E9PAL6	ENTREZGENE
	MEX3D_HUMAN	UniProtKB/Swiss-Prot
	Q71M49	ENTREZGENE
	Q86XN8	ENTREZGENE
	S4R446_HUMAN	UniProtKB/TrEMBL
UniProt Secondary	A0PJL8	UniProtKB/Swiss-Prot
	A1L023	UniProtKB/Swiss-Prot
	E9PAL6	UniProtKB/Swiss-Prot
	Q71M49	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2013-08-27	MEX3D	mex-3 RNA binding family member D		mex-3 homolog D (C. elegans)	Symbol and/or name change	5135510	APPROVED

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

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

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

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

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Imported Disease Annotations - ClinVar