MEX3B (mex-3 RNA binding family member B)

Gene: MEX3B (mex-3 RNA binding family member B) Homo sapiens

Analyze

Symbol:

MEX3B

Name:

mex-3 RNA binding family member B

RGD ID:

1346115

HGNC Page

HGNC:25297

Description:

Enables RNA binding activity. Predicted to act upstream of or within positive regulation of cell-cell adhesion; positive regulation of phagocytosis; and protein localization to cell cortex. Located in P-body; cytosol; and nucleoplasm.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

DKFZp434J0617; MEX-3B; MGC117199; ring finger and KH domain containing 3; RING finger and KH domain-containing protein 3; RING finger protein 195; RKHD3; RNA-binding protein MEX3B; RNF195

RGD Orthologs

Alliance Genes

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Mex3b (mex3 RNA binding family member B)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Mex3b (mex-3 RNA binding family member B)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Mex3b (mex-3 RNA binding family member B)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	MEX3B (mex-3 RNA binding family member B)	NCBI	Ortholog
Canis lupus familiaris (dog):	MEX3B (mex-3 RNA binding family member B)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Mex3b (mex-3 RNA binding family member B)	NCBI	Ortholog
Sus scrofa (pig):	MEX3B (mex-3 RNA binding family member B)	HGNC	Ensembl, NCBI, OrthoDB
Chlorocebus sabaeus (green monkey):	MEX3B (mex-3 RNA binding family member B)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Mex3b (mex-3 RNA binding family member B)	NCBI	Ortholog
Other homologs ²
Rattus norvegicus (Norway rat):	Samd12 (sterile alpha motif domain containing 12)	HGNC	OMA
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Mex3b (mex-3 RNA binding family member B)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Mex3b (mex3 RNA binding family member B)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	mex3b (mex-3 RNA binding family member B)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Drosophila melanogaster (fruit fly):	CG11360	Alliance	DIOPT (Ensembl Compara\|InParanoid\|OrthoFinder\|OrthoInspector\|PANTHER\|SonicParanoid)
Caenorhabditis elegans (roundworm):	mex-3	Alliance	DIOPT (Ensembl Compara\|OrthoFinder\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	mex3b.S	Alliance	DIOPT (Xenbase)
Xenopus tropicalis (tropical clawed frog):	mex3b	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	mex3b.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	15	82,041,778 - 82,046,018 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	15	82,041,778 - 82,046,119 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	15	82,334,119 - 82,338,359 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	15	80,121,183 - 80,125,416 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	15	59,273,384 - 59,277,617 (-)	NCBI		Celera
Cytogenetic Map	15	q25.2	NCBI
HuRef	15	59,092,531 - 59,096,896 (-)	NCBI		HuRef
CHM1_1	15	82,452,138 - 82,456,503 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	15	79,905,829 - 79,910,069 (-)	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

Bloom syndrome (IAGP)

colorectal cancer (IAGP)

genetic disease (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dichloroethane (ISO)

17beta-estradiol (EXP)

2,2',4,4',5,5'-hexachlorobiphenyl (ISO)

2,2',5,5'-tetrachlorobiphenyl (EXP,ISO)

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

2-palmitoylglycerol (EXP)

3,4-dichloroaniline (ISO)

4,4'-sulfonyldiphenol (ISO)

6-propyl-2-thiouracil (ISO)

acetamide (ISO)

aflatoxin B1 (EXP)

all-trans-retinoic acid (EXP)

amphetamine (ISO)

antirheumatic drug (EXP)

azoxystrobin (EXP)

benzo[a]pyrene (EXP,ISO)

bis(2-ethylhexyl) phthalate (EXP,ISO)

bisphenol A (EXP,ISO)

bromobenzene (ISO)

CGP 52608 (EXP)

chloroprene (ISO)

cisplatin (EXP,ISO)

copper atom (ISO)

copper(0) (ISO)

copper(II) sulfate (EXP)

decabromodiphenyl ether (ISO)

diazinon (EXP)

dibutyl phthalate (ISO)

dimethylselenide (EXP)

dioxygen (ISO)

diuron (ISO)

dorsomorphin (EXP)

doxorubicin (EXP)

endosulfan (EXP)

entinostat (EXP)

folic acid (ISO)

formaldehyde (EXP)

gentamycin (ISO)

glyphosate (ISO)

kenpaullone (ISO)

kojic acid (EXP)

leflunomide (EXP)

Licochalcone B (EXP)

lithium chloride (EXP)

melphalan (EXP)

methotrexate (ISO)

methyl methanesulfonate (EXP)

methylmercury chloride (EXP)

N-Nitrosopyrrolidine (EXP)

nickel dichloride (ISO)

orphenadrine (ISO)

ozone (ISO)

paracetamol (EXP,ISO)

paraquat (ISO)

PCB138 (ISO)

phenobarbital (EXP)

phenylmercury acetate (EXP)

picoxystrobin (EXP)

pregnenolone 16alpha-carbonitrile (ISO)

reactive oxygen species (EXP)

resveratrol (EXP)

SB 431542 (EXP)

silver atom (ISO)

silver(0) (ISO)

sodium arsenite (EXP)

sodium dichromate (ISO)

temozolomide (EXP)

thioacetamide (ISO)

titanium dioxide (EXP)

trichostatin A (EXP)

urethane (EXP)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

cell-cell adhesion (ISO)

establishment of localization in cell (ISO)

phagocytosis (ISO)

positive regulation of cell-cell adhesion (ISO)

positive regulation of phagocytosis (ISO)

protein localization to cell cortex (ISO)

Cellular Component

cytoplasm (IEA)

cytosol (IDA)

nucleoplasm (IDA)

nucleus (IEA)

P-body (IDA,IEA)

Molecular Function

calcium ion binding (ISS)

GTPase activating protein binding (ISO)

metal ion binding (IEA)

nucleic acid binding (IEA)

protein binding (IPI)

RNA binding (HDA,IDA,IEA)

References

References - curated

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

Additional References at PubMed

PMID:11076863	PMID:11230166	PMID:11256614	PMID:14702039	PMID:15489334	PMID:15489336	PMID:15761153	PMID:16169070	PMID:16381901	PMID:17267406	PMID:18029348	PMID:18779327
PMID:19079261	PMID:20531441	PMID:21900206	PMID:22082156	PMID:22645275	PMID:22681889	PMID:23408853	PMID:24326307	PMID:24677629	PMID:26186194	PMID:27338022	PMID:28514442
PMID:29395067	PMID:29417297	PMID:29496759	PMID:29507755	PMID:30631154	PMID:31330219	PMID:32460013	PMID:33469115	PMID:33961781	PMID:35013218	PMID:35044719	PMID:35563538
PMID:36931259	PMID:36976645	PMID:38326406

Genomics

Comparative Map Data

MEX3B
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	15	82,041,778 - 82,046,018 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	15	82,041,778 - 82,046,119 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	15	82,334,119 - 82,338,359 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	15	80,121,183 - 80,125,416 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	15	59,273,384 - 59,277,617 (-)	NCBI		Celera
Cytogenetic Map	15	q25.2	NCBI
HuRef	15	59,092,531 - 59,096,896 (-)	NCBI		HuRef
CHM1_1	15	82,452,138 - 82,456,503 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	15	79,905,829 - 79,910,069 (-)	NCBI		T2T-CHM13v2.0

Mex3b
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	7	82,516,541 - 82,520,784 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	7	82,516,541 - 82,520,723 (+)	Ensembl		GRCm39 Ensembl
GRCm38	7	82,867,333 - 82,871,576 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	7	82,867,333 - 82,871,515 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	7	90,015,843 - 90,020,086 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	7	82,743,117 - 82,747,761 (+)	NCBI		MGSCv36	mm8
Celera	7	80,278,990 - 80,287,009 (+)	NCBI		Celera
Cytogenetic Map	7	D3	NCBI
cM Map	7	47.35	NCBI

Mex3b
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	1	146,264,319 - 146,268,554 (+)	NCBI		GRCr8
mRatBN7.2	1	136,855,130 - 136,859,365 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	1	136,855,130 - 136,859,354 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	1	144,786,066 - 144,790,303 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	1	151,955,087 - 151,959,324 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	1	144,859,311 - 144,863,550 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	1	144,831,523 - 144,835,758 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	1	144,831,523 - 144,835,747 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	1	145,760,227 - 145,764,462 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	1	139,135,572 - 139,139,807 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	1	139,202,111 - 139,216,855 (+)	NCBI
Celera	1	128,896,201 - 128,900,436 (+)	NCBI		Celera
Cytogenetic Map	1	q31	NCBI

Mex3b
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955416	12,595,774 - 12,599,563 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955416	12,595,887 - 12,599,455 (-)	NCBI	ChiLan1.0	ChiLan1.0

MEX3B
(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	16	71,310,612 - 71,315,173 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	15	75,472,756 - 75,477,263 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	15	61,025,026 - 61,029,324 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	15	82,174,669 - 82,180,588 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	15	82,172,946 - 82,180,581 (+)	Ensembl	panpan1.1		panPan2

MEX3B
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	3	55,911,159 - 55,914,188 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	3	55,911,526 - 55,914,118 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	3	58,559,422 - 58,564,198 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	3	56,339,949 - 56,342,635 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	3	56,339,964 - 56,343,977 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	3	55,845,787 - 55,848,461 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	3	56,056,778 - 56,059,456 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	3	56,395,282 - 56,397,969 (+)	NCBI		UU_Cfam_GSD_1.0

Mex3b
(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_024408640	127,562,560 - 127,566,411 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936483	18,766,000 - 18,771,949 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936483	18,766,000 - 18,771,924 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

MEX3B
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	7	50,747,841 - 50,751,777 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	7	50,747,828 - 50,753,119 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1

MEX3B
(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	26	1,366,900 - 1,371,243 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	26	1,366,815 - 1,371,193 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666048	140,531,084 - 140,535,482 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Mex3b
(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_004624768	19,922,631 - 19,926,454 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624768	19,922,636 - 19,926,418 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in MEX3B
29 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 15q24.2-26.3(chr15:75307767-101723215)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]\|See cases [RCV000052346]	Chr15:75307767..101723215 [GRCh38] Chr15:75600108..102263418 [GRCh37] Chr15:73387161..100080941 [NCBI36] Chr15:15q24.2-26.3	pathogenic
GRCh38/hg38 15q24.3-26.3(chr15:77543797-101843411)x3	copy number gain	See cases [RCV000052347]	Chr15:77543797..101843411 [GRCh38] Chr15:77836139..102383614 [GRCh37] Chr15:75623194..100201137 [NCBI36] Chr15:15q24.3-26.3	pathogenic
GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	copy number gain	See cases [RCV000143019]	Chr15:72154949..101920998 [GRCh38] Chr15:72447290..102461201 [GRCh37] Chr15:70234344..100278724 [NCBI36] Chr15:15q23-26.3	pathogenic
GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	copy number gain	See cases [RCV000142915]	Chr15:59828460..101920998 [GRCh38] Chr15:60120659..102461201 [GRCh37] Chr15:57907951..100278724 [NCBI36] Chr15:15q22.2-26.3	pathogenic
GRCh37/hg19 15q24.2-26.3(chr15:76061144-102429112)x3	copy number gain	See cases [RCV000511332]	Chr15:76061144..102429112 [GRCh37] Chr15:15q24.2-26.3	pathogenic
GRCh37/hg19 15q25.2(chr15:82133231-83455333)x3	copy number gain	See cases [RCV000240449]	Chr15:82133231..83455333 [GRCh37] Chr15:15q25.2	uncertain significance
GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	copy number gain	See cases [RCV000240602]	Chr15:64637227..102509910 [GRCh37] Chr15:15q22.31-26.3	pathogenic
GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	copy number gain	not provided [RCV000415836]	Chr15:59297293..102480888 [GRCh37] Chr15:15q22.1-26.3	likely pathogenic
GRCh37/hg19 15q25.1-25.2(chr15:80703867-83955596)x1	copy number loss	See cases [RCV000446990]	Chr15:80703867..83955596 [GRCh37] Chr15:15q25.1-25.2	pathogenic
GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	copy number gain	See cases [RCV000447123]	Chr15:41745084..102354798 [GRCh37] Chr15:15q15.1-26.3	pathogenic
GRCh37/hg19 15q25.1-26.3(chr15:80648093-102429112)x3	copy number gain	See cases [RCV000445705]	Chr15:80648093..102429112 [GRCh37] Chr15:15q25.1-26.3	pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	copy number gain	See cases [RCV000447765]	Chr15:20733395..102511616 [GRCh37] Chr15:15q11.2-26.3	pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	copy number gain	See cases [RCV000510717]	Chr15:22770422..102429112 [GRCh37] Chr15:15q11.2-26.3	pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	copy number gain	See cases [RCV000512019]	Chr15:22770422..102429112 [GRCh37] Chr15:15q11.2-26.3	pathogenic
Single allele	duplication	not provided [RCV000677926]	Chr15:31115047..102354857 [GRCh37] Chr15:15q13.2-26.3	pathogenic
GRCh37/hg19 15q25.1-25.2(chr15:80955355-82622366)x4	copy number gain	not provided [RCV000683713]	Chr15:80955355..82622366 [GRCh37] Chr15:15q25.1-25.2	uncertain significance
GRCh37/hg19 15q25.1-25.3(chr15:79023343-87158823)x1,2	copy number gain	not provided [RCV000683712]	Chr15:79023343..87158823 [GRCh37] Chr15:15q25.1-25.3	pathogenic
GRCh37/hg19 15q24.3-26.3(chr15:77479244-102429112)x3	copy number gain	not provided [RCV000683710]	Chr15:77479244..102429112 [GRCh37] Chr15:15q24.3-26.3	pathogenic
GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3	copy number gain	not provided [RCV000683703]	Chr15:71329220..102270758 [GRCh37] Chr15:15q23-26.3	pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3	copy number gain	not provided [RCV000751155]	Chr15:20016811..102493540 [GRCh37] Chr15:15q11.1-26.3	pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3	copy number gain	not provided [RCV000751156]	Chr15:20071673..102461162 [GRCh37] Chr15:15q11.1-26.3	pathogenic
GRCh37/hg19 15q25.1-25.2(chr15:80728654-84107646)x1	copy number loss	not provided [RCV000849378]	Chr15:80728654..84107646 [GRCh37] Chr15:15q25.1-25.2	pathogenic
NC_000015.9:g.(?_32964879)_(91358519_?)dup	duplication	Bloom syndrome [RCV001343104]\|Familial colorectal cancer [RCV001325176]	Chr15:32964879..91358519 [GRCh37] Chr15:15q13.3-26.1	uncertain significance
NM_032246.6(MEX3B):c.1355G>C (p.Gly452Ala)	single nucleotide variant	Inborn genetic diseases [RCV003255305]	Chr15:82043515 [GRCh38] Chr15:82335856 [GRCh37] Chr15:15q25.2	uncertain significance
NM_032246.6(MEX3B):c.424A>C (p.Asn142His)	single nucleotide variant	Inborn genetic diseases [RCV002837427]	Chr15:82044446 [GRCh38] Chr15:82336787 [GRCh37] Chr15:15q25.2	uncertain significance
NM_032246.6(MEX3B):c.1389C>G (p.Asp463Glu)	single nucleotide variant	Inborn genetic diseases [RCV002905720]	Chr15:82043481 [GRCh38] Chr15:82335822 [GRCh37] Chr15:15q25.2	uncertain significance
GRCh37/hg19 15q24.3-26.3(chr15:77512817-102035027)x3	copy number gain	not provided [RCV002475797]	Chr15:77512817..102035027 [GRCh37] Chr15:15q24.3-26.3	pathogenic
NM_032246.6(MEX3B):c.992G>T (p.Gly331Val)	single nucleotide variant	Inborn genetic diseases [RCV002727723]	Chr15:82043878 [GRCh38] Chr15:82336219 [GRCh37] Chr15:15q25.2	uncertain significance
NM_032246.6(MEX3B):c.436G>A (p.Ala146Thr)	single nucleotide variant	Inborn genetic diseases [RCV002688393]	Chr15:82044434 [GRCh38] Chr15:82336775 [GRCh37] Chr15:15q25.2	uncertain significance
NM_032246.6(MEX3B):c.697A>G (p.Ile233Val)	single nucleotide variant	Inborn genetic diseases [RCV002729990]	Chr15:82044173 [GRCh38] Chr15:82336514 [GRCh37] Chr15:15q25.2	uncertain significance
NM_032246.6(MEX3B):c.1055C>G (p.Ser352Cys)	single nucleotide variant	Inborn genetic diseases [RCV002689091]	Chr15:82043815 [GRCh38] Chr15:82336156 [GRCh37] Chr15:15q25.2	uncertain significance
NM_032246.6(MEX3B):c.19G>A (p.Ala7Thr)	single nucleotide variant	Inborn genetic diseases [RCV002950925]	Chr15:82045687 [GRCh38] Chr15:82338028 [GRCh37] Chr15:15q25.2	uncertain significance
NM_032246.6(MEX3B):c.1258T>C (p.Ser420Pro)	single nucleotide variant	Inborn genetic diseases [RCV002869362]	Chr15:82043612 [GRCh38] Chr15:82335953 [GRCh37] Chr15:15q25.2	uncertain significance
NM_032246.6(MEX3B):c.1033G>T (p.Gly345Trp)	single nucleotide variant	Inborn genetic diseases [RCV002844996]	Chr15:82043837 [GRCh38] Chr15:82336178 [GRCh37] Chr15:15q25.2	uncertain significance
NM_032246.6(MEX3B):c.1250G>A (p.Ser417Asn)	single nucleotide variant	Inborn genetic diseases [RCV002845036]	Chr15:82043620 [GRCh38] Chr15:82335961 [GRCh37] Chr15:15q25.2	uncertain significance
NM_032246.6(MEX3B):c.406A>G (p.Met136Val)	single nucleotide variant	Inborn genetic diseases [RCV002951779]	Chr15:82044464 [GRCh38] Chr15:82336805 [GRCh37] Chr15:15q25.2	uncertain significance
NM_032246.6(MEX3B):c.986A>C (p.His329Pro)	single nucleotide variant	Inborn genetic diseases [RCV002799909]	Chr15:82043884 [GRCh38] Chr15:82336225 [GRCh37] Chr15:15q25.2	uncertain significance
NM_032246.6(MEX3B):c.758A>C (p.His253Pro)	single nucleotide variant	Inborn genetic diseases [RCV002668144]	Chr15:82044112 [GRCh38] Chr15:82336453 [GRCh37] Chr15:15q25.2	uncertain significance
NM_032246.6(MEX3B):c.959C>T (p.Pro320Leu)	single nucleotide variant	Inborn genetic diseases [RCV002874030]	Chr15:82043911 [GRCh38] Chr15:82336252 [GRCh37] Chr15:15q25.2	uncertain significance
NM_032246.6(MEX3B):c.1285C>A (p.His429Asn)	single nucleotide variant	Inborn genetic diseases [RCV002767319]	Chr15:82043585 [GRCh38] Chr15:82335926 [GRCh37] Chr15:15q25.2	uncertain significance
NM_032246.6(MEX3B):c.874C>T (p.Leu292Phe)	single nucleotide variant	Inborn genetic diseases [RCV002891841]	Chr15:82043996 [GRCh38] Chr15:82336337 [GRCh37] Chr15:15q25.2	uncertain significance
NM_032246.6(MEX3B):c.1225G>A (p.Val409Met)	single nucleotide variant	Inborn genetic diseases [RCV002808995]	Chr15:82043645 [GRCh38] Chr15:82335986 [GRCh37] Chr15:15q25.2	uncertain significance
NM_032246.6(MEX3B):c.824C>A (p.Thr275Asn)	single nucleotide variant	Inborn genetic diseases [RCV002674763]	Chr15:82044046 [GRCh38] Chr15:82336387 [GRCh37] Chr15:15q25.2	uncertain significance
NM_032246.6(MEX3B):c.1313G>A (p.Cys438Tyr)	single nucleotide variant	Inborn genetic diseases [RCV002680579]	Chr15:82043557 [GRCh38] Chr15:82335898 [GRCh37] Chr15:15q25.2	uncertain significance
NM_032246.6(MEX3B):c.1064G>A (p.Gly355Asp)	single nucleotide variant	Inborn genetic diseases [RCV003255631]	Chr15:82043806 [GRCh38] Chr15:82336147 [GRCh37] Chr15:15q25.2	uncertain significance
NM_032246.6(MEX3B):c.1067G>A (p.Cys356Tyr)	single nucleotide variant	Inborn genetic diseases [RCV003207637]	Chr15:82043803 [GRCh38] Chr15:82336144 [GRCh37] Chr15:15q25.2	uncertain significance
NM_032246.6(MEX3B):c.1220C>T (p.Ser407Phe)	single nucleotide variant	Inborn genetic diseases [RCV003192364]	Chr15:82043650 [GRCh38] Chr15:82335991 [GRCh37] Chr15:15q25.2	uncertain significance
NM_032246.6(MEX3B):c.472C>T (p.Pro158Ser)	single nucleotide variant	Inborn genetic diseases [RCV003180038]	Chr15:82044398 [GRCh38] Chr15:82336739 [GRCh37] Chr15:15q25.2	uncertain significance
GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	copy number gain	not provided [RCV003222839]	Chr15:67358491..91644328 [GRCh37] Chr15:15q22.33-26.1	pathogenic
NM_032246.6(MEX3B):c.894C>G (p.Asp298Glu)	single nucleotide variant	Inborn genetic diseases [RCV003207889]	Chr15:82043976 [GRCh38] Chr15:82336317 [GRCh37] Chr15:15q25.2	uncertain significance
GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3	copy number gain	See cases [RCV003329502]	Chr15:75165490..102520892 [GRCh37] Chr15:15q24.1-26.3	pathogenic
NM_032246.6(MEX3B):c.71G>C (p.Gly24Ala)	single nucleotide variant	Inborn genetic diseases [RCV003379485]	Chr15:82045635 [GRCh38] Chr15:82337976 [GRCh37] Chr15:15q25.2	uncertain significance
NM_032246.6(MEX3B):c.1484C>T (p.Ser495Phe)	single nucleotide variant	Inborn genetic diseases [RCV003370462]	Chr15:82043386 [GRCh38] Chr15:82335727 [GRCh37] Chr15:15q25.2	uncertain significance
NM_032246.6(MEX3B):c.983C>G (p.Ala328Gly)	single nucleotide variant	Inborn genetic diseases [RCV003352241]	Chr15:82043887 [GRCh38] Chr15:82336228 [GRCh37] Chr15:15q25.2	uncertain significance
NM_032246.6(MEX3B):c.1665G>A (p.Pro555=)	single nucleotide variant	not provided [RCV003400985]	Chr15:82043205 [GRCh38] Chr15:82335546 [GRCh37] Chr15:15q25.2	likely benign

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	2267
Count of miRNA genes:	936
Interacting mature miRNAs:	1100
Transcripts:	ENST00000329713, ENST00000558133
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.

Markers in Region

RH92966

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	15	82,335,023 - 82,335,170	UniSTS	GRCh37
Build 36	15	80,122,078 - 80,122,225	RGD	NCBI36
Celera	15	59,274,279 - 59,274,426	RGD
Cytogenetic Map	15	q25.2	UniSTS
HuRef	15	59,093,435 - 59,093,582	UniSTS
GeneMap99-GB4 RH Map	15	285.64	UniSTS

RH102949

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	15	82,334,279 - 82,334,456	UniSTS	GRCh37
Build 36	15	80,121,334 - 80,121,511	RGD	NCBI36
Celera	15	59,273,535 - 59,273,712	RGD
Cytogenetic Map	15	q25.2	UniSTS
HuRef	15	59,092,691 - 59,092,868	UniSTS
GeneMap99-GB4 RH Map	15	287.73	UniSTS

G31454

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	15	82,334,352 - 82,334,454	UniSTS	GRCh37
Build 36	15	80,121,407 - 80,121,509	RGD	NCBI36
Celera	15	59,273,608 - 59,273,710	RGD
Cytogenetic Map	15	q25.2	UniSTS
HuRef	15	59,092,764 - 59,092,866	UniSTS

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

High

Medium

184

122

619

Low

2252

2181

1359

409

939

251

3989

2001

3353

265

809

1471

165

1178

2627

Below cutoff

142

747

351

206

884

206

182

164

250

122

158

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_032246	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AA442153	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AB095929	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC026956	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK094145	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK094633	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK131424	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL136778	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY950678	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC036211	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC111545	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471136	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068263	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HY013949	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000329713 ⟹ ENSP00000329918

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	82,041,778 - 82,046,018 (-)	Ensembl

RefSeq Acc Id:

ENST00000558133 ⟹ ENSP00000456938

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	82,041,787 - 82,046,119 (-)	Ensembl

RefSeq Acc Id:

NM_032246 ⟹ NP_115622

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	15	82,041,778 - 82,046,018 (-)	NCBI
GRCh37	15	82,334,119 - 82,338,484 (-)	NCBI
Build 36	15	80,121,183 - 80,125,416 (-)	NCBI Archive
Celera	15	59,273,384 - 59,277,617 (-)	RGD
HuRef	15	59,092,531 - 59,096,896 (-)	NCBI
CHM1_1	15	82,452,138 - 82,456,503 (-)	NCBI
T2T-CHM13v2.0	15	79,905,829 - 79,910,069 (-)	NCBI

Sequence:

show sequence

GCTTTTCGCTCGGCATTGCGGCCAGCCAGCCGGGCACTCGGGGGGCACGCGCGGCCACCGCTAG
AGCTCTGCCCCCACCCCACCCGCCAGCAGGTCTGGGGTGGGGACCCAGGTGGGGGCTCCTGCAG
CCACTGCCCGGTGCGGACCGCACGGAGCGACCCACTCCTCCCAGCACCGAGGAAGAAGCAACGG
AGCCCTCAGCAGGCGACCGGCCTCCCCGCCCCTGACCACCCGCTTCCCGGCTGCCTTTGTGGCC
GCAGCTTCTCGCCGCCGAGCCGAGGGCCGGCGGGGGCGCGGCGCGCACGGCCGAGCGATGCCCA
GCTCGCTGTTCGCAGACCTGGAGCGCAACGGCAGCGGCGGCGGCGGCGGCGGCAGCAGCGGAGG
GGGAGAGACCCTGGATGACCAAAGAGCCCTGCAGCTCGCGCTCGACCAGCTCTCCCTGCTGGGG
CTGGACAGTGACGAGGGCGCCTCTCTGTACGACAGCGAGCCGCGCAAGAAGAGCGTGAACATGA
CCGAGTGCGTGCCAGTACCCAGTTCTGAGCATGTCGCCGAGATCGTGGGGCGGCAAGGTTGTAA
AATCAAAGCGCTGCGGGCGAAGACCAATACTTACATCAAGACCCCAGTTCGCGGGGAGGAGCCT
GTCTTTGTTGTGACGGGCAGGAAGGAGGATGTGGCCATGGCTCGGAGGGAGATCATCTCTGCTG
CCGAGCACTTCTCCATGATCCGCGCCTCCCGGAATAAGAACACGGCACTCAACGGCGCGGTGCC
TGGGCCGCCCAACCTGCCCGGGCAGACCACCATCCAAGTGCGGGTACCCTACCGCGTGGTGGGG
CTCGTGGTGGGGCCCAAAGGCGCCACAATCAAGCGCATCCAGCAGCAGACGCACACGTACATCG
TGACGCCCAGCCGGGATAAGGAGCCGGTGTTCGAGGTGACCGGCATGCCAGAGAACGTGGATCG
CGCTCGAGAGGAGATTGAGGCGCACATTGCTCTGCGTACCGGCGGCATCATTGAGCTCACAGAC
GAGAACGACTTCCACGCCAACGGCACCGATGTGGGCTTCGATCTGCATCATGGGTCCGGCGGGT
CCGGCCCAGGCAGCCTCTGGAGCAAGCCCACCCCCAGCATCACGCCCACCCCCGGCCGCAAGCC
TTTCTCTAGCTACCGCAACGACAGCTCCAGCTCGCTTGGCAGTGCTTCCACAGACTCTTATTTC
GGCGGCGGGACCAGCAGCAGCGCAGCGGCTACCCAGCGCCTGGCGGACTACAGCCCCCCTAGCC
CCGCCCTGAGCTTTGCGCACAACGGAAACAATAACAATAACGGCAATGGGTACACCTACACAGC
GGGGGGAGAAGCCTCAGTGCCATCCCCCGACGGCTGCCCCGAGCTGCAGCCCACTTTTGACCCG
GCTCCCGCTCCCCCACCTGGGGCACCACTTATCTGGGCCCAGTTCGAGCGGTCCCCGGGAGGCG
GACCTGCAGCTCCGGTATCTTCTTCCTGCTCTTCTTCTGCATCTTCGTCTGCTTCTTCCTCCTC
CGTGGTCTTCCCCGGGGGTGGCGCCAGTGCGCCCTCCAACGCCAACCTGGGGCTATTGGTGCAC
CGCCGGCTGCACCCTGGCACCAGCTGCCCGCGCCTGTCTCCACCCTTGCACATGGCCCCGGGGG
CGGGAGAGCACCACCTGGCTCGCCGGGTGCGCAGCGACCCGGGTGGAGGAGGCCTGGCCTACGC
CGCTTATGCCAACGGGCTGGGGGCACAGCTGCCTGGCTTGCAGCCGTCGGACACGTCGGGCTCC
TCCTCTTCGTCCAGCTCCTCCTCCAGCTCTTCATCCTCTTCCTCCGGGCTTCGGCGTAAAGGCA
GCCGCGACTGCTCCGTGTGCTTCGAGAGCGAAGTGATTGCCGCGCTGGTGCCCTGTGGCCACAA
CCTCTTCTGCATGGAGTGCGCCAATCGCATCTGTGAGAAGAGCGAGCCCGAGTGCCCGGTCTGC
CACACCGCGGTCACTCAGGCCATCCGCATCTTTTCTTAAAGGCAGCGGGCGCTGCTAGTGCGCA
CCGTGCTGGGGGAAGGGGGAACCCCTCCCCACCCTCTTTCCCCAGCGCTCGCCTGCCTCCCTGG
GTGCCCCCCCTCTCCCTTCTCCTTCCCGGCCCCACCAACACTCTGAGATCCGAGAGGAGCTTGG
AAAGCTGTAGTATCCGCTCATTTTTAAAATTTAATTTTTAAGTAAAGGAATTTGCCAGGATATC
TGCATCAAGAGTACTGTAGCCTGGGAAACCTGAACACCTGAAATGCATGCTCTATAAATAATAG
GAACGGCGACATTCTAGTAATGATAGTTTTTACACTGTACTTAATAGGAAGCTTCCAAAAGAAG
AAAACCCCACAAGTTTTCCATTTTCTTAAAGTAGGAAAAAATGAACAGTAATAATTATGATGAA
GATGATAGTAGTGCTATGGGATGTGTGGACTGTTTAGTGTGTTCCCCTTTGTGGGTGGGTTCCT
ATGATACTTATTATAGAACACAGTGGATCCTTTTTGAATGTTCGTGGAAGGGCCAGGAGTTCCT
GTGAAACCAGGATACTGCAGCTTTATTAAAGTTAAAGAAACTGTAACATATCTCTTATATATTA
AAAACGTTTAAAAGTTTTAAAGAGAAATTGCATTAATACAGATTGAAGTATTTTATTCTTTTTT
GACTTGAAAAATTATATTTCATATTGCAAAGATGTTTACAAGTATTTTAATTTAAGTTCAGTGA
ACTTTTTTGTAGCTGGGTTAAATCTTTTTATTTTAGTATGGCCTTATGGCAAAGAACACTGTAT
TATTTTAATAATCACACAATTGTGACGGAATTACAACCATAAAATGTGTAATGTTTTGAACAGT
ATTCTGTTGGGATGGAGATTTTATAGGTTCAGACAAATCTTCTAGATCTGCTTCACCCAGCATA
TTTTCTATTCAGTGATATAAAGCATATTTTATTCTATATTATTACAAAAACGGAAATGTATAAA
CATGTCAAAAAGAACTGTTGATGCTTTCTAACATTTGTATAAATAGAATTCAGTGCAAGTTACA
AAAATTCTGTTGCACCACTCTAGTTTTAGTATTTCTATTTTAATACATTTGTTTACCACTTGTT
TATGTATATGTAGGTGATGTTACTTGAGCTTAAATGTACTTTACTGAGCAAAGTTTAAAAAACA
AAGTATATTTTATTTTATGATAAAGGGCCTTTAACCTCATGGTCAAATACTAATATTATATTTG
CTGAGACAAGATTTGAAATTGTATCAAGAGTTTTATTTTTCTGACATTTAAAGTTCTACATAAT
AAAGGTAAAACTTAAGTAATGGTGCTACTTCATTTTTTAAGTATTTCTATATAAATAAAATATT
GAAGAAAATCTTA

hide sequence

Protein Sequences


Protein RefSeqs	NP_115622	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH36211	(Get FASTA)	NCBI Sequence Viewer
	AAI11546	(Get FASTA)	NCBI Sequence Viewer
	AAY34146	(Get FASTA)	NCBI Sequence Viewer
	BAC23105	(Get FASTA)	NCBI Sequence Viewer
	BAD18571	(Get FASTA)	NCBI Sequence Viewer
	CAB66712	(Get FASTA)	NCBI Sequence Viewer
	EAW99090	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000329918
	ENSP00000329918.4
	ENSP00000456938.1
GenBank Protein	Q6ZN04	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_115622 ⟸ NM_032246

- UniProtKB:

Q8IVG2 (UniProtKB/Swiss-Prot), Q4G0W1 (UniProtKB/Swiss-Prot), Q9H0J0 (UniProtKB/Swiss-Prot), Q6ZN04 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MPSSLFADLERNGSGGGGGGSSGGGETLDDQRALQLALDQLSLLGLDSDEGASLYDSEPRKKSV
NMTECVPVPSSEHVAEIVGRQGCKIKALRAKTNTYIKTPVRGEEPVFVVTGRKEDVAMARREII
SAAEHFSMIRASRNKNTALNGAVPGPPNLPGQTTIQVRVPYRVVGLVVGPKGATIKRIQQQTHT
YIVTPSRDKEPVFEVTGMPENVDRAREEIEAHIALRTGGIIELTDENDFHANGTDVGFDLHHGS
GGSGPGSLWSKPTPSITPTPGRKPFSSYRNDSSSSLGSASTDSYFGGGTSSSAAATQRLADYSP
PSPALSFAHNGNNNNNGNGYTYTAGGEASVPSPDGCPELQPTFDPAPAPPPGAPLIWAQFERSP
GGGPAAPVSSSCSSSASSSASSSSVVFPGGGASAPSNANLGLLVHRRLHPGTSCPRLSPPLHMA
PGAGEHHLARRVRSDPGGGGLAYAAYANGLGAQLPGLQPSDTSGSSSSSSSSSSSSSSSSGLRR
KGSRDCSVCFESEVIAALVPCGHNLFCMECANRICEKSEPECPVCHTAVTQAIRIFS

hide sequence

RefSeq Acc Id:

ENSP00000456938 ⟸ ENST00000558133

RefSeq Acc Id:

ENSP00000329918 ⟸ ENST00000329713

Protein Domains

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q6ZN04-F1-model_v2	AlphaFold	Q6ZN04	1-569	view protein structure

Promoters

RGD ID:

6792450

Promoter ID:

HG_KWN:22109

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4

Transcripts:

OTTHUMT00000304000

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	15	80,125,311 - 80,126,527 (-)	MPROMDB

RGD ID:

7230311

Promoter ID:

EPDNEW_H20901

Type:

initiation region

Name:

MEX3B_1

Description:

mex-3 RNA binding family member B

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H20902

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	15	82,046,018 - 82,046,078	EPDNEW

RGD ID:

7230313

Promoter ID:

EPDNEW_H20902

Type:

initiation region

Name:

MEX3B_2

Description:

mex-3 RNA binding family member B

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H20901

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	15	82,046,143 - 82,046,203	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:25297	AgrOrtholog
COSMIC	MEX3B	COSMIC
Ensembl Genes	ENSG00000183496	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000329713	ENTREZGENE
	ENST00000329713.5	UniProtKB/Swiss-Prot
	ENST00000558133.1	UniProtKB/Swiss-Prot
Gene3D-CATH	3.30.1370.10	UniProtKB/Swiss-Prot
	3.30.40.10	UniProtKB/Swiss-Prot
GTEx	ENSG00000183496	GTEx
HGNC ID	HGNC:25297	ENTREZGENE
Human Proteome Map	MEX3B	Human Proteome Map
InterPro	KH-I_MEX3_rpt1	UniProtKB/Swiss-Prot
	KH-I_MEX3_rpt2	UniProtKB/Swiss-Prot
	KH_dom	UniProtKB/Swiss-Prot
	KH_dom_type_1	UniProtKB/Swiss-Prot
	KH_dom_type_1_sf	UniProtKB/Swiss-Prot
	MEX3	UniProtKB/Swiss-Prot
	Znf_RING	UniProtKB/Swiss-Prot
	Znf_RING/FYVE/PHD	UniProtKB/Swiss-Prot
KEGG Report	hsa:84206	UniProtKB/Swiss-Prot
NCBI Gene	84206	ENTREZGENE
OMIM	611008	OMIM
PANTHER	RING FINGER AND KH DOMAIN CONTAINING PROTEIN 1	UniProtKB/Swiss-Prot
	RNA-BINDING PROTEIN MEX3B	UniProtKB/Swiss-Prot
Pfam	KH_1	UniProtKB/Swiss-Prot
	zf-C3HC4_3	UniProtKB/Swiss-Prot
PharmGKB	PA162395820	PharmGKB
PROSITE	KH_TYPE_1	UniProtKB/Swiss-Prot
	ZF_RING_2	UniProtKB/Swiss-Prot
SMART	RING	UniProtKB/Swiss-Prot
	SM00322	UniProtKB/Swiss-Prot
Superfamily-SCOP	RING/U-box	UniProtKB/Swiss-Prot
	SSF54791	UniProtKB/Swiss-Prot
UniProt	MEX3B_HUMAN	UniProtKB/Swiss-Prot
	Q4G0W1	ENTREZGENE
	Q6ZN04	ENTREZGENE
	Q8IVG2	ENTREZGENE
	Q9H0J0	ENTREZGENE
UniProt Secondary	Q4G0W1	UniProtKB/Swiss-Prot
	Q8IVG2	UniProtKB/Swiss-Prot
	Q9H0J0	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2013-08-27	MEX3B	mex-3 RNA binding family member B		mex-3 homolog B (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)

Send us a Message

Imported Disease Annotations - ClinVar