EZR (ezrin) - Rat Genome Database

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

Advanced Search (OLGA)

Gene: EZR (ezrin) Homo sapiens

Analyze

Symbol:

EZR

Name:

ezrin

RGD ID:

1350208

HGNC Page

HGNC:12691

Description:

Enables several functions, including ATPase binding activity; cytoskeletal protein binding activity; and protein kinase A binding activity. Involved in several processes, including cytoskeleton organization; negative regulation of signal transduction; and regulation of gene expression. Located in several cellular components, including fibrillar center; focal adhesion; and immunological synapse. Part of protein-containing complex.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

CVIL; CVL; cytovillin 2; DKFZp762H157; epididymis secretory protein Li 105; FLJ26216; HEL-S-105; MGC1584; p81; VIL2; villin 2 (ezrin); villin-2

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):	Ezr (ezrin)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Ezr (ezrin)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Ezr (ezrin)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	EZR (ezrin)	NCBI	Ortholog
Canis lupus familiaris (dog):	EZR (ezrin)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Ezr (ezrin)	NCBI	Ortholog
Sus scrofa (pig):	EZR (ezrin)	HGNC	Ensembl, NCBI, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	EZR (ezrin)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Ezr (ezrin)	NCBI	Ortholog
Other homologs ²
Mus musculus (house mouse):	Msn (moesin)	HGNC	OrthoMCL
Mus musculus (house mouse):	Rdx (radixin)	HGNC	OrthoMCL
Rattus norvegicus (Norway rat):	Hspa2 (heat shock protein family A (Hsp70) member 2)	HGNC	OMA
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Ezr (ezrin)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Ezr (ezrin)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	ezra (ezrin a)	Alliance	DIOPT (Ensembl Compara\|OMA\|OrthoFinder\|PANTHER\|PhylomeDB\|ZFIN)
Danio rerio (zebrafish):	ezrb (ezrin b)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Drosophila melanogaster (fruit fly):	Moe	Alliance	DIOPT (Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|SonicParanoid)
Caenorhabditis elegans (roundworm):	erm-1	Alliance	DIOPT (Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus tropicalis (tropical clawed frog):	ezr	Alliance	DIOPT (Ensembl Compara\|OMA\|OrthoFinder\|PANTHER\|PhylomeDB)
Xenopus laevis (African clawed frog):	ezr.L	Alliance	DIOPT (Xenbase)

Related Pseudogenes:

EZRP1

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	6	158,765,748 - 158,819,368 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	6	158,765,741 - 158,819,368 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	6	159,186,780 - 159,240,400 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	6	159,106,764 - 159,159,247 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	6	159,157,186 - 159,209,668	NCBI
Celera	6	159,834,789 - 159,888,323 (-)	NCBI		Celera
Cytogenetic Map	6	q25.3	NCBI
HuRef	6	156,657,307 - 156,711,123 (-)	NCBI		HuRef
CHM1_1	6	159,449,491 - 159,503,058 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	6	160,010,984 - 160,064,812 (-)	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

3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (IAGP)

Animal Mammary Neoplasms (EXP)

carcinoma (EXP)

chromosome 6q24-q25 deletion syndrome (IAGP)

Experimental Liver Cirrhosis (EXP)

Experimental Mammary Neoplasms (EXP)

Neoplasm Metastasis (EXP)

osteoarthritis (EXP)

primary ciliary dyskinesia 32 (IAGP)

Prostatic Neoplasms (EXP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(+)-pilocarpine (ISO)

(S)-amphetamine (ISO)

(S)-nicotine (EXP,ISO)

1,2-dichloroethane (ISO)

1,2-dimethylhydrazine (ISO)

1,8-cineole (ISO)

1-chloro-2,4-dinitrobenzene (EXP)

1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (ISO)

1-naphthyl isothiocyanate (ISO)

17alpha-ethynylestradiol (ISO)

17beta-estradiol (EXP,ISO)

17beta-hydroxy-17-methylestra-4,9,11-trien-3-one (EXP)

17beta-hydroxy-5alpha-androstan-3-one (EXP)

2,2',4,4'-Tetrabromodiphenyl ether (ISO)

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

2,4-dibromophenyl 2,4,5-tribromophenyl ether (ISO)

2-naphthylamine (EXP)

3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine (ISO)

4,4'-diaminodiphenylmethane (ISO)

4-hydroxynon-2-enal (EXP)

4-hydroxyphenyl retinamide (ISO)

6-propyl-2-thiouracil (ISO)

7,12-dimethyltetraphene (ISO)

acetamide (ISO)

acetylsalicylic acid (EXP)

acrolein (EXP)

aflatoxin B1 (ISO)

aldehydo-D-glucose (ISO)

all-trans-retinoic acid (EXP,ISO)

alpha-pinene (EXP)

alpha-Zearalanol (ISO)

ammonium chloride (ISO)

ampicillin (ISO)

aniline (ISO)

antirheumatic drug (EXP)

aristolochic acid A (EXP)

arsane (EXP)

arsenic atom (EXP)

arsenite(3-) (ISO)

arsenous acid (EXP)

atropine (EXP)

benzalkonium chloride (EXP)

benzatropine (EXP)

benzo[a]pyrene (EXP,ISO)

benzo[a]pyrene diol epoxide I (EXP)

beta-naphthoflavone (ISO)

bicalutamide (EXP)

bis(2-chloroethyl) sulfide (EXP)

bis(2-ethylhexyl) phthalate (EXP)

bisphenol A (EXP,ISO)

bleomycin A2 (ISO)

cadmium atom (EXP)

caffeine (EXP,ISO)

cannabidiol (EXP,ISO)

carbon monoxide (EXP)

carbon nanotube (EXP)

CGP 52608 (EXP)

chloropicrin (EXP)

choline (ISO)

chromium(6+) (EXP)

cisplatin (EXP,ISO)

clofibric acid (ISO)

clozapine (EXP)

cobalt dichloride (EXP)

cocaine (EXP)

copper atom (ISO)

copper(0) (ISO)

copper(II) sulfate (EXP)

coumestrol (EXP)

CU-O LINKAGE (EXP)

Cuprizon (ISO)

cyclohexanols (EXP)

cyclosporin A (EXP)

cytarabine (EXP)

D-glucose (ISO)

diarsenic trioxide (EXP)

dibutyl phthalate (ISO)

diethylstilbestrol (ISO)

diuron (ISO)

dorsomorphin (EXP)

doxorubicin (EXP)

elemental selenium (EXP)

Enterolactone (EXP)

entinostat (EXP)

enzyme inhibitor (EXP)

ethanol (EXP,ISO)

fipronil (ISO)

flavonoids (ISO)

folic acid (ISO)

fructose (ISO)

furan (ISO)

genistein (ISO)

gentamycin (ISO)

glucose (ISO)

haloperidol (EXP)

hyaluronic acid (ISO)

hydrogen peroxide (EXP,ISO)

inulin (ISO)

isobutanol (EXP)

isoflavones (ISO)

ivermectin (EXP)

L-methionine (ISO)

lead nitrate (ISO)

lead(0) (EXP)

leflunomide (EXP)

lipopolysaccharide (ISO)

lithium atom (ISO)

lithium hydride (ISO)

menadione (EXP)

methotrexate (EXP)

methylmercury chloride (EXP)

metronidazole (ISO)

microcystin-LR (EXP,ISO)

N-methyl-4-phenylpyridinium (ISO)

N-methyl-N-nitrosourea (ISO)

N-nitrosodiethylamine (ISO)

N-nitrosodimethylamine (ISO)

N-nitrosomorpholine (ISO)

naphthalene (ISO)

neomycin (ISO)

nicotine (EXP,ISO)

nitric oxide (ISO)

nitrogen dioxide (EXP)

ochratoxin A (EXP,ISO)

ozone (EXP)

panobinostat (EXP)

paracetamol (EXP,ISO)

paraquat (ISO)

parathion (EXP)

PCB138 (ISO)

pentachlorophenol (ISO)

perfluorooctane-1-sulfonic acid (ISO)

perfluorooctanoic acid (ISO)

phenobarbital (EXP)

phenylmercury acetate (EXP)

PhIP (ISO)

Propiverine (ISO)

rotenone (ISO)

SB 203580 (EXP)

SB 431542 (EXP)

selenium atom (EXP)

silicon dioxide (EXP)

sodium arsenite (EXP,ISO)

sodium dichromate (ISO)

sodium dodecyl sulfate (EXP)

sodium fluoride (ISO)

sodium hydroxide (EXP)

Soman (ISO)

starch (ISO)

T-2 toxin (ISO)

temozolomide (EXP)

tert-butyl hydroperoxide (EXP)

testosterone enanthate (EXP)

tetrachloromethane (ISO)

thioacetamide (ISO)

thiram (EXP)

titanium dioxide (ISO)

tributylstannane (ISO)

Tributyltin oxide (ISO)

trichostatin A (EXP)

triclosan (EXP)

Triton X-100 (EXP)

tropan-3alpha-yl 3-hydroxy-2-phenylpropanoate (EXP)

tungsten (ISO)

urethane (EXP)

valproic acid (EXP)

vancomycin (ISO)

vinclozolin (ISO)

vitamin E (EXP)

withaferin A (EXP)

Withanone (EXP)

Y-27632 (ISO)

zoledronic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

actin cytoskeleton organization (IMP)

actin filament bundle assembly (IDA)

astral microtubule organization (IMP)

cellular response to cAMP (IMP)

cortical microtubule organization (IMP)

epithelial cell differentiation (ISO)

establishment of centrosome localization (IMP)

establishment of endothelial barrier (IGI)

establishment of epithelial cell apical/basal polarity (IMP)

establishment or maintenance of apical/basal cell polarity (IEA,ISO)

filopodium assembly (IMP,ISO)

gland morphogenesis (IMP)

intestinal D-glucose absorption (IEA)

leukocyte cell-cell adhesion (IEP)

membrane to membrane docking (IEP)

microvillus assembly (IMP,ISO)

negative regulation of ERK1 and ERK2 cascade (IMP)

negative regulation of interleukin-2 production (IMP)

negative regulation of p38MAPK cascade (IMP)

negative regulation of T cell receptor signaling pathway (IMP)

negative regulation of transcription by RNA polymerase II (IMP)

positive regulation of early endosome to late endosome transport (IBA,IGI,IMP)

positive regulation of gene expression (IGI)

positive regulation of multicellular organism growth (IEA)

positive regulation of protein catabolic process (IGI)

positive regulation of protein localization to early endosome (IBA,IGI)

positive regulation of protein localization to plasma membrane (IEA)

postsynaptic actin cytoskeleton organization (IEA)

protein kinase A signaling (IMP)

protein localization to cell cortex (IMP)

protein localization to plasma membrane (IMP)

protein-containing complex localization (IMP)

receptor internalization (IEA,ISO)

regulation of actin cytoskeleton organization (IMP)

regulation of cell shape (IBA,IEA,IMP)

regulation of cell size (IMP)

regulation of cellular component organization (IEA)

regulation of microvillus length (IEA)

regulation of non-canonical NF-kappaB signal transduction (IMP)

regulation of organelle assembly (IBA,IGI,IMP)

sphingosine-1-phosphate receptor signaling pathway (IMP)

terminal web assembly (IEA)

Cellular Component

actin cytoskeleton (IDA)

actin filament (IDA)

adherens junction (IBA)

apical part of cell (IBA,IDA,IEA)

apical plasma membrane (IDA,IEA,ISO)

astrocyte projection (ISO)

basolateral plasma membrane (ISS)

brush border (IEA,ISS)

cell body (ISO)

cell cortex (IEA)

cell periphery (IDA)

cell projection (IDA,IEA)

cell tip (ISO)

ciliary basal body (IEA)

cortical cytoskeleton (TAS)

cytoplasm (IDA,IEA)

cytoskeleton (IEA)

cytosol (IDA,TAS)

endosome (IDA)

extracellular exosome (HDA)

extracellular space (HDA)

fibrillar center (IDA)

filopodium (IBA,IDA,ISO)

focal adhesion (HDA,IDA)

immunological synapse (IDA)

membrane (HDA)

microspike (ISO)

microvillus (IBA,IDA,IEA)

microvillus membrane (IEA)

perinuclear region of cytoplasm (IDA)

plasma membrane (IBA,IDA,IEA)

plasma membrane raft (IDA)

protein-containing complex (IDA)

ruffle (IDA)

ruffle membrane (IEA)

Schwann cell microvillus (ISO)

T-tubule (ISO)

uropod (IEA)

vesicle (HDA)

Molecular Function

actin binding (IBA,IDA,IEA)

actin filament binding (IDA)

ATPase binding (IPI)

cadherin binding (HDA)

cell adhesion molecule binding (IBA,IPI)

disordered domain specific binding (IEA)

identical protein binding (IPI)

microtubule binding (IMP)

protein binding (IPI,ISO)

protein domain specific binding (IPI,ISO)

protein kinase A binding (IPI)

protein kinase A catalytic subunit binding (IPI)

protein kinase A regulatory subunit binding (IPI)

protein-containing complex binding (ISO)

RNA binding (HDA)

S100 protein binding (IPI)

Molecular Pathway Annotations Click to see Annotation Detail View

FasL mediated signaling pathway (EXP)

parathyroid hormone signaling pathway (TAS)

pathogenic Escherichia coli infection pathway (IEA)

protein kinase A (PKA) signaling pathway (TAS)

syndecan signaling pathway (EXP)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	The parathyroid hormone receptorsome and the potential for therapeutic intervention.	Mahon MJ Curr Drug Targets. 2012 Jan;13(1):116-28.
3.	KEGG Annotation Import Pipeline	Pipeline to import KEGG annotations from KEGG into RGD
4.	PID Annotation Import Pipeline	Pipeline to import Pathway Interaction Database annotations from NCI into RGD
5.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
6.	Localized effects of cAMP mediated by distinct routes of protein kinase A.	Tasken K and Aandahl EM, Physiol Rev. 2004 Jan;84(1):137-67.

Additional References at PubMed

PMID:1159819	PMID:1381389	PMID:1382070	PMID:1762625	PMID:1924289	PMID:2591371	PMID:2592436	PMID:2674140	PMID:7579708	PMID:7844168	PMID:7876308	PMID:8089177
PMID:8162705	PMID:8248180	PMID:8713105	PMID:8892894	PMID:9009265	PMID:9213396	PMID:9287351	PMID:9314537	PMID:9501018	PMID:9616160	PMID:9705328	PMID:9748260
PMID:9852149	PMID:9921900	PMID:9928947	PMID:10036239	PMID:10377409	PMID:10462524	PMID:10704377	PMID:10713718	PMID:10733515	PMID:10793131	PMID:10799517	PMID:10806479
PMID:10893422	PMID:10955717	PMID:10970850	PMID:11013215	PMID:11285285	PMID:11387207	PMID:11438984	PMID:11468295	PMID:11598191	PMID:11684085	PMID:11706008	PMID:11726633
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PMID:25231728	PMID:25241761	PMID:25251993	PMID:25278252	PMID:25286001	PMID:25299115	PMID:25304618	PMID:25337200	PMID:25378401	PMID:25400809	PMID:25445504	PMID:25468996
PMID:25486435	PMID:25504542	PMID:25554515	PMID:25575591	PMID:25613038	PMID:25809479	PMID:25854173	PMID:25866790	PMID:25889165	PMID:25913012	PMID:25921289	PMID:25929323
PMID:25952930	PMID:25955302	PMID:25959826	PMID:25963833	PMID:25982273	PMID:26010871	PMID:26026587	PMID:26032400	PMID:26042733	PMID:26067138	PMID:26115722	PMID:26135398
PMID:26149384	PMID:26209696	PMID:26212029	PMID:26330014	PMID:26344197	PMID:26358752	PMID:26360636	PMID:26419932	PMID:26496610	PMID:26499835	PMID:26555866	PMID:26618866
PMID:26632332	PMID:26641092	PMID:26760575	PMID:26791814	PMID:26799186	PMID:26823603	PMID:26831064	PMID:26927385	PMID:26933912	PMID:26936397	PMID:26956845	PMID:26980013
PMID:27025967	PMID:27029001	PMID:27042764	PMID:27059464	PMID:27072970	PMID:27129302	PMID:27173435	PMID:27371852	PMID:27420986	PMID:27622508	PMID:27688241	PMID:27751915
PMID:27793041	PMID:27823775	PMID:27926873	PMID:28079637	PMID:28093347	PMID:28230040	PMID:28261953	PMID:28298808	PMID:28300573	PMID:28302793	PMID:28423676	PMID:28430576
PMID:28504189	PMID:28514442	PMID:28515276	PMID:28524877	PMID:28533407	PMID:28535417	PMID:28603065	PMID:28624994	PMID:28643776	PMID:28700943	PMID:28754689	PMID:28774893
PMID:28843271	PMID:28883622	PMID:28889652	PMID:28939985	PMID:28953975	PMID:29117863	PMID:29128334	PMID:29253179	PMID:29259079	PMID:29449217	PMID:29507755	PMID:29509190
PMID:29568061	PMID:29587669	PMID:29656060	PMID:29669740	PMID:29704455	PMID:29777033	PMID:29791485	PMID:29845278	PMID:29890880	PMID:30021884	PMID:30044991	PMID:30093083
PMID:30196744	PMID:30244410	PMID:30385740	PMID:30463939	PMID:30575818	PMID:30655286	PMID:30655325	PMID:30678714	PMID:30804430	PMID:30884312	PMID:30890647	PMID:30948266
PMID:30996241	PMID:31018575	PMID:31067453	PMID:31082616	PMID:31180492	PMID:31300519	PMID:31324722	PMID:31333725	PMID:31382374	PMID:31409639	PMID:31452341	PMID:31519766
PMID:31536960	PMID:31586073	PMID:31638145	PMID:31837246	PMID:31843195	PMID:31980649	PMID:31995728	PMID:32028718	PMID:32098334	PMID:32160548	PMID:32203420	PMID:32296183
PMID:32315081	PMID:32392198	PMID:32399827	PMID:32529326	PMID:32538298	PMID:32674647	PMID:32687490	PMID:32707033	PMID:32710796	PMID:32780723	PMID:32786267	PMID:32807901
PMID:32814053	PMID:32913203	PMID:32939012	PMID:32941674	PMID:33003361	PMID:33086476	PMID:33108559	PMID:33326488	PMID:33685573	PMID:33845483	PMID:33862101	PMID:33961781
PMID:34079125	PMID:34121685	PMID:34189442	PMID:34196912	PMID:34316702	PMID:34349018	PMID:34428256	PMID:34429402	PMID:34459110	PMID:34502121	PMID:34504087	PMID:34577118
PMID:34645483	PMID:34709727	PMID:34723710	PMID:34732716	PMID:34795231	PMID:34799561	PMID:35063084	PMID:35122331	PMID:35140182	PMID:35156523	PMID:35235311	PMID:35271311
PMID:35384245	PMID:35439318	PMID:35446349	PMID:35562734	PMID:35563538	PMID:35575683	PMID:35751703	PMID:35793608	PMID:35831314	PMID:35851960	PMID:35914814	PMID:35944360
PMID:35973513	PMID:35973989	PMID:36114006	PMID:36156321	PMID:36168627	PMID:36215168	PMID:36261009	PMID:36470425	PMID:36517590	PMID:36526897	PMID:36572190	PMID:36574265
PMID:36610398	PMID:36634849	PMID:36724073	PMID:36762613	PMID:36899847	PMID:37061568	PMID:37071682	PMID:37132043	PMID:37171030	PMID:37301410	PMID:37304008	PMID:37328063
PMID:37371090	PMID:37536630	PMID:37616343	PMID:37774976	PMID:37827155	PMID:38113892	PMID:38117590	PMID:38142951	PMID:38280479	PMID:38334954	PMID:38563525	PMID:38697112
PMID:39147351	PMID:39231216

Genomics

Comparative Map Data

EZR
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	6	158,765,748 - 158,819,368 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	6	158,765,741 - 158,819,368 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	6	159,186,780 - 159,240,400 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	6	159,106,764 - 159,159,247 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	6	159,157,186 - 159,209,668	NCBI
Celera	6	159,834,789 - 159,888,323 (-)	NCBI		Celera
Cytogenetic Map	6	q25.3	NCBI
HuRef	6	156,657,307 - 156,711,123 (-)	NCBI		HuRef
CHM1_1	6	159,449,491 - 159,503,058 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	6	160,010,984 - 160,064,812 (-)	NCBI		T2T-CHM13v2.0

Ezr
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	17	7,005,530 - 7,050,179 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	17	7,005,440 - 7,050,183 (-)	Ensembl		GRCm39 Ensembl
GRCm38	17	6,738,131 - 6,782,780 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	17	6,738,041 - 6,782,784 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	17	6,942,480 - 6,987,129 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	17	6,587,789 - 6,632,438 (-)	NCBI		MGSCv36	mm8
Celera	15	14,687,905 - 14,732,667 (+)	NCBI		Celera
Cytogenetic Map	17	A1	NCBI
cM Map	17	4.38	NCBI

Ezr
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	1	49,373,033 - 49,416,573 (-)	NCBI		GRCr8
mRatBN7.2	1	46,967,961 - 47,011,505 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	1	46,967,658 - 47,011,505 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	1	47,516,906 - 47,560,444 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	1	53,504,177 - 53,547,825 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	1	47,592,352 - 47,635,890 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	1	47,287,872 - 47,331,412 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	1	47,287,874 - 47,331,412 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	1	48,590,971 - 48,634,511 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	1	41,178,195 - 41,221,735 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	1	41,181,139 - 41,224,680 (-)	NCBI
Celera	1	42,655,531 - 42,699,079 (-)	NCBI		Celera
Cytogenetic Map	1	q11	NCBI

Ezr
(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_004955439	3,703,013 - 3,740,345 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955439	3,701,722 - 3,740,345 (+)	NCBI	ChiLan1.0	ChiLan1.0

EZR
(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	5	178,869,668 - 178,923,683 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	6	176,774,286 - 176,828,291 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	6	156,656,146 - 156,709,986 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	6	161,670,483 - 161,723,102 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	6	161,670,483 - 161,723,102 (-)	Ensembl	panpan1.1		panPan2

EZR
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	1	48,160,206 - 48,210,036 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	1	48,160,206 - 48,210,036 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	1	49,005,197 - 49,055,099 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	1	48,346,325 - 48,397,738 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	1	48,346,327 - 48,397,690 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	1	48,223,100 - 48,272,944 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	1	48,093,979 - 48,143,792 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	1	48,653,395 - 48,703,265 (-)	NCBI		UU_Cfam_GSD_1.0

Ezr
(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_024404946	143,161,383 - 143,205,800 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936489	10,412,710 - 10,458,201 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936489	10,413,374 - 10,457,771 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

EZR
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	1	8,403,453 - 8,452,742 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	1	8,403,362 - 8,452,750 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	1	10,423,530 - 10,432,162 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

EZR
(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	13	86,342,954 - 86,399,827 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	13	86,344,051 - 86,370,622 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666040	58,721,321 - 58,778,578 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Ezr
(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_004624929	826,531 - 873,572 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624929	827,275 - 873,743 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in EZR
72 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	copy number gain	See cases [RCV000050604]	Chr6:141132990..169339571 [GRCh38] Chr6:141454127..169739666 [GRCh37] Chr6:141495820..169481591 [NCBI36] Chr6:6q24.1-27	pathogenic
GRCh38/hg38 6q25.2-27(chr6:152376338-170583214)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051902]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051902]\|See cases [RCV000051902]	Chr6:152376338..170583214 [GRCh38] Chr6:152697473..170892302 [GRCh37] Chr6:152739166..170734227 [NCBI36] Chr6:6q25.2-27	pathogenic
GRCh38/hg38 6q25.3(chr6:157827805-159726548)x3	copy number gain	See cases [RCV000051903]	Chr6:157827805..159726548 [GRCh38] Chr6:158248837..160147580 [GRCh37] Chr6:158168825..160067570 [NCBI36] Chr6:6q25.3	pathogenic
GRCh38/hg38 6q25.3-27(chr6:158664768-170612001)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051904]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051904]\|See cases [RCV000051904]	Chr6:158664768..170612001 [GRCh38] Chr6:159085800..170921089 [GRCh37] Chr6:159005788..170763014 [NCBI36] Chr6:6q25.3-27	pathogenic
GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1	copy number loss	See cases [RCV000052207]	Chr6:154118058..170602152 [GRCh38] Chr6:154439193..170911240 [GRCh37] Chr6:154480885..170753165 [NCBI36] Chr6:6q25.2-27	pathogenic
GRCh38/hg38 6q25.2-25.3(chr6:154178964-159020369)x1	copy number loss	See cases [RCV000134896]	Chr6:154178964..159020369 [GRCh38] Chr6:154500098..159441401 [GRCh37] Chr6:154541790..159361389 [NCBI36] Chr6:6q25.2-25.3	likely pathogenic
GRCh38/hg38 6q25.2-27(chr6:154539655-170714507)x1	copy number loss	See cases [RCV000137381]	Chr6:154539655..170714507 [GRCh38] Chr6:154860789..171023595 [GRCh37] Chr6:154902481..170865520 [NCBI36] Chr6:6q25.2-27	pathogenic
GRCh38/hg38 6q25.3-26(chr6:155378049-163133499)x1	copy number loss	See cases [RCV000137831]	Chr6:155378049..163133499 [GRCh38] Chr6:155699183..163554531 [GRCh37] Chr6:155740875..163474521 [NCBI36] Chr6:6q25.3-26	pathogenic
GRCh38/hg38 6q25.1-25.3(chr6:150381239-159553952)x1	copy number loss	See cases [RCV000139578]	Chr6:150381239..159553952 [GRCh38] Chr6:150702375..159974984 [GRCh37] Chr6:150744068..159894974 [NCBI36] Chr6:6q25.1-25.3	pathogenic
GRCh38/hg38 6q25.2-27(chr6:152793402-170610394)x1	copy number loss	See cases [RCV000141880]	Chr6:152793402..170610394 [GRCh38] Chr6:153114537..170919482 [GRCh37] Chr6:153156230..170761407 [NCBI36] Chr6:6q25.2-27	pathogenic
GRCh38/hg38 6q25.2-27(chr6:152376338-170612001)x3	copy number gain	See cases [RCV000142594]	Chr6:152376338..170612001 [GRCh38] Chr6:152697473..170921089 [GRCh37] Chr6:152739166..170763014 [NCBI36] Chr6:6q25.2-27	pathogenic
GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	copy number gain	See cases [RCV000143444]	Chr6:133537271..165875545 [GRCh38] Chr6:133858409..166289033 [GRCh37] Chr6:133900102..166209023 [NCBI36] Chr6:6q23.2-27	pathogenic
GRCh38/hg38 6q25.3-26(chr6:158585724-160899783)x3	copy number gain	See cases [RCV000143618]	Chr6:158585724..160899783 [GRCh38] Chr6:159006756..161320815 [GRCh37] Chr6:158926744..161240805 [NCBI36] Chr6:6q25.3-26	uncertain significance
GRCh37/hg19 6q25.1-27(chr6:151214792-170892243)x3	copy number gain	See cases [RCV000449011]	Chr6:151214792..170892243 [GRCh37] Chr6:6q25.1-27	pathogenic
NM_001111077.2(EZR):c.385G>A (p.Ala129Thr)	single nucleotide variant	not provided [RCV000412641]	Chr6:158785391 [GRCh38] Chr6:159206423 [GRCh37] Chr6:6q25.3	uncertain significance
GRCh37/hg19 6q25.3(chr6:158392800-159229197)x3	copy number gain	See cases [RCV000447581]	Chr6:158392800..159229197 [GRCh37] Chr6:6q25.3	uncertain significance
GRCh37/hg19 6q25.3(chr6:155525920-159889169)x1	copy number loss	See cases [RCV000447692]	Chr6:155525920..159889169 [GRCh37] Chr6:6q25.3	pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	copy number gain	See cases [RCV000512067]	Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27	pathogenic
NM_001111077.2(EZR):c.1422A>T (p.Pro474=)	single nucleotide variant	not provided [RCV000898160]\|not specified [RCV000503275]	Chr6:158767435 [GRCh38] Chr6:159188467 [GRCh37] Chr6:6q25.3	likely benign
NM_001111077.2(EZR):c.795T>G (p.Pro265=)	single nucleotide variant	not specified [RCV000501376]	Chr6:158776408 [GRCh38] Chr6:159197440 [GRCh37] Chr6:6q25.3	likely benign
NM_001111077.2(EZR):c.1293G>C (p.Leu431=)	single nucleotide variant	not specified [RCV000503607]	Chr6:158769377 [GRCh38] Chr6:159190409 [GRCh37] Chr6:6q25.3	uncertain significance
NM_001111077.2(EZR):c.752A>G (p.Asn251Ser)	single nucleotide variant	not provided [RCV000908381]\|not specified [RCV000503500]	Chr6:158776451 [GRCh38] Chr6:159197483 [GRCh37] Chr6:6q25.3	likely benign\|uncertain significance
NM_001111077.2(EZR):c.1350A>G (p.Lys450=)	single nucleotide variant	not specified [RCV000501529]	Chr6:158767507 [GRCh38] Chr6:159188539 [GRCh37] Chr6:6q25.3	likely benign
NM_001111077.2(EZR):c.94C>G (p.Gln32Glu)	single nucleotide variant	not specified [RCV000503981]	Chr6:158789290 [GRCh38] Chr6:159210322 [GRCh37] Chr6:6q25.3	uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	copy number gain	See cases [RCV000510595]	Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27	pathogenic
NM_001111077.2(EZR):c.538C>T (p.Arg180Cys)	single nucleotide variant	not specified [RCV000504030]	Chr6:158784657 [GRCh38] Chr6:159205689 [GRCh37] Chr6:6q25.3	uncertain significance
NM_001111077.2(EZR):c.1598C>T (p.Thr533Met)	single nucleotide variant	not provided [RCV004691800]\|not specified [RCV000501798]	Chr6:158767077 [GRCh38] Chr6:159188109 [GRCh37] Chr6:6q25.3	uncertain significance
NM_001111077.2(EZR):c.1419A>C (p.Pro473=)	single nucleotide variant	not specified [RCV000499547]	Chr6:158767438 [GRCh38] Chr6:159188470 [GRCh37] Chr6:6q25.3	likely benign
NM_001111077.2(EZR):c.1585C>T (p.Arg529Trp)	single nucleotide variant	not specified [RCV000502547]	Chr6:158767272 [GRCh38] Chr6:159188304 [GRCh37] Chr6:6q25.3	uncertain significance
NM_001111077.2(EZR):c.699-6C>T	single nucleotide variant	not specified [RCV000500428]	Chr6:158776510 [GRCh38] Chr6:159197542 [GRCh37] Chr6:6q25.3	likely benign
NM_001111077.2(EZR):c.366C>G (p.Ala122=)	single nucleotide variant	not specified [RCV000502535]	Chr6:158785410 [GRCh38] Chr6:159206442 [GRCh37] Chr6:6q25.3	likely benign
NM_001111077.2(EZR):c.1142G>A (p.Arg381Gln)	single nucleotide variant	not provided [RCV004691801]\|not specified [RCV000500569]	Chr6:158769893 [GRCh38] Chr6:159190925 [GRCh37] Chr6:6q25.3	uncertain significance
NM_001111077.2(EZR):c.959+7G>A	single nucleotide variant	not provided [RCV000914007]\|not specified [RCV000500472]	Chr6:158771237 [GRCh38] Chr6:159192269 [GRCh37] Chr6:6q25.3	likely benign\|uncertain significance
NM_001111077.2(EZR):c.1573G>A (p.Glu525Lys)	single nucleotide variant	not specified [RCV004292032]	Chr6:158767284 [GRCh38] Chr6:159188316 [GRCh37] Chr6:6q25.3	uncertain significance
NM_001111077.2(EZR):c.23G>C (p.Arg8Pro)	single nucleotide variant	not specified [RCV004310633]	Chr6:158789361 [GRCh38] Chr6:159210393 [GRCh37] Chr6:6q25.3	uncertain significance
46,XX,der(6)(q25.1,q28)dn.seq[GRCh37/hg19]der(6)(6pter->6q25.2(+)(154768571)::q25.2(+)(154778901),q25.2(+)154778992::q25.2(-)(154774048),q25.2(-)(154768571)::q25.2(-)(154768571),q25.1(-)(~151443183-151443483))dn	complex	Coffin-Siris syndrome 1 [RCV000714957]	Chr6:151443333..171115067 [GRCh37] Chr6:6q25.1-27	pathogenic
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3	copy number gain	not provided [RCV000745403]	Chr6:108666..170980171 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3	copy number gain	not provided [RCV000745400]	Chr6:60107..171054786 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3	copy number gain	not provided [RCV000745404]	Chr6:165632..170919470 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6q25.1-27(chr6:150284435-170919470)x3	copy number gain	not provided [RCV000746100]	Chr6:150284435..170919470 [GRCh37] Chr6:6q25.1-27	pathogenic
GRCh37/hg19 6q25.3-27(chr6:159155998-171054786)x3	copy number gain	not provided [RCV000746132]	Chr6:159155998..171054786 [GRCh37] Chr6:6q25.3-27	pathogenic
NM_001111077.2(EZR):c.366C>T (p.Ala122=)	single nucleotide variant	not provided [RCV000970843]	Chr6:158785410 [GRCh38] Chr6:159206442 [GRCh37] Chr6:6q25.3	benign
NM_001111077.2(EZR):c.1131G>A (p.Glu377=)	single nucleotide variant	not provided [RCV000899565]\|not specified [RCV001818741]	Chr6:158769904 [GRCh38] Chr6:159190936 [GRCh37] Chr6:6q25.3	benign\|likely benign
NM_001111077.2(EZR):c.1308G>A (p.Arg436=)	single nucleotide variant	not provided [RCV000929032]	Chr6:158769362 [GRCh38] Chr6:159190394 [GRCh37] Chr6:6q25.3	likely benign
GRCh37/hg19 6q25.3-27(chr6:159006336-170713678)x3	copy number gain	not provided [RCV003312672]	Chr6:159006336..170713678 [GRCh37] Chr6:6q25.3-27	uncertain significance
NM_001111077.2(EZR):c.123A>G (p.Glu41=)	single nucleotide variant	not provided [RCV000893995]	Chr6:158787177 [GRCh38] Chr6:159208209 [GRCh37] Chr6:6q25.3	benign
NM_001111077.2(EZR):c.97-5C>T	single nucleotide variant	not provided [RCV000920002]	Chr6:158787208 [GRCh38] Chr6:159208240 [GRCh37] Chr6:6q25.3	likely benign
NM_001111077.2(EZR):c.1188A>C (p.Ala396=)	single nucleotide variant	not provided [RCV000962892]	Chr6:158769847 [GRCh38] Chr6:159190879 [GRCh37] Chr6:6q25.3	benign
NM_001111077.2(EZR):c.1275T>A (p.Thr425=)	single nucleotide variant	not provided [RCV000965025]	Chr6:158769395 [GRCh38] Chr6:159190427 [GRCh37] Chr6:6q25.3	benign
GRCh37/hg19 6q25.3(chr6:157262571-160992289)x3	copy number gain	not provided [RCV000848057]	Chr6:157262571..160992289 [GRCh37] Chr6:6q25.3	uncertain significance
GRCh37/hg19 6q24.3-25.3(chr6:148195086-160127254)x3	copy number gain	not provided [RCV000846496]	Chr6:148195086..160127254 [GRCh37] Chr6:6q24.3-25.3	pathogenic
NM_001111077.2(EZR):c.1062T>C (p.Tyr354=)	single nucleotide variant	EZR-related disorder [RCV003960648]\|not provided [RCV000953548]\|not specified [RCV001818985]	Chr6:158770792 [GRCh38] Chr6:159191824 [GRCh37] Chr6:6q25.3	benign
NM_001111077.2(EZR):c.324A>G (p.Glu108=)	single nucleotide variant	not provided [RCV000909844]	Chr6:158785452 [GRCh38] Chr6:159206484 [GRCh37] Chr6:6q25.3	likely benign
NM_001111077.2(EZR):c.97-18TC[5]	microsatellite	not provided [RCV000960891]	Chr6:158787210..158787211 [GRCh38] Chr6:159208242..159208243 [GRCh37] Chr6:6q25.3	benign
NM_001111077.2(EZR):c.1740C>T (p.Ile580=)	single nucleotide variant	EZR-related disorder [RCV003910828]\|not provided [RCV000905930]	Chr6:158766935 [GRCh38] Chr6:159187967 [GRCh37] Chr6:6q25.3	likely benign
NM_001111077.2(EZR):c.1440G>A (p.Pro480=)	single nucleotide variant	not provided [RCV000892390]	Chr6:158767417 [GRCh38] Chr6:159188449 [GRCh37] Chr6:6q25.3	likely benign
NM_001111077.2(EZR):c.1480G>C (p.Ala494Pro)	single nucleotide variant	not provided [RCV000956436]	Chr6:158767377 [GRCh38] Chr6:159188409 [GRCh37] Chr6:6q25.3	benign
NM_001111077.2(EZR):c.1412C>T (p.Pro471Leu)	single nucleotide variant	not provided [RCV000911147]	Chr6:158767445 [GRCh38] Chr6:159188477 [GRCh37] Chr6:6q25.3	likely benign
NM_001111077.2(EZR):c.1426C>G (p.Pro476Ala)	single nucleotide variant	not specified [RCV001815095]	Chr6:158767431 [GRCh38] Chr6:159188463 [GRCh37] Chr6:6q25.3	uncertain significance
NM_001111077.2(EZR):c.254A>G (p.Tyr85Cys)	single nucleotide variant	not specified [RCV004258811]	Chr6:158785522 [GRCh38] Chr6:159206554 [GRCh37] Chr6:6q25.3	uncertain significance
NM_001111077.2(EZR):c.1177C>T (p.Arg393Cys)	single nucleotide variant	not specified [RCV001817543]	Chr6:158769858 [GRCh38] Chr6:159190890 [GRCh37] Chr6:6q25.3	uncertain significance
NM_001111077.2(EZR):c.928C>T (p.Arg310Trp)	single nucleotide variant	not specified [RCV001815094]	Chr6:158771275 [GRCh38] Chr6:159192307 [GRCh37] Chr6:6q25.3	uncertain significance
NM_001111077.2(EZR):c.1434C>T (p.Tyr478=)	single nucleotide variant	not specified [RCV001820368]	Chr6:158767423 [GRCh38] Chr6:159188455 [GRCh37] Chr6:6q25.3	likely benign
NM_001111077.2(EZR):c.1481C>T (p.Ala494Val)	single nucleotide variant	not specified [RCV001819488]	Chr6:158767376 [GRCh38] Chr6:159188408 [GRCh37] Chr6:6q25.3	uncertain significance
GRCh37/hg19 6q25.2-26(chr6:153207930-164322346)	copy number loss	not specified [RCV002053640]	Chr6:153207930..164322346 [GRCh37] Chr6:6q25.2-26	pathogenic
GRCh37/hg19 6q25.3(chr6:158392800-159229197)	copy number gain	not specified [RCV002053649]	Chr6:158392800..159229197 [GRCh37] Chr6:6q25.3	uncertain significance
GRCh37/hg19 6q25.3(chr6:155525920-159889169)	copy number loss	not specified [RCV002053642]	Chr6:155525920..159889169 [GRCh37] Chr6:6q25.3	pathogenic
NC_000006.11:g.(?_158532398)_(160114199_?)dup	duplication	Primary ciliary dyskinesia 32 [RCV001934131]	Chr6:158532398..160114199 [GRCh37] Chr6:6q25.3	uncertain significance
NC_000006.11:g.(?_158532398)_(162868359_?)del	deletion	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV003122912]\|not provided [RCV003122911]	Chr6:158532398..162868359 [GRCh37] Chr6:6q25.3-26	pathogenic\|no classifications from unflagged records
GRCh37/hg19 6q25.3-27(chr6:157318401-165233548)x1	copy number loss	See cases [RCV002287557]	Chr6:157318401..165233548 [GRCh37] Chr6:6q25.3-27	pathogenic
GRCh37/hg19 6q25.3-27(chr6:159121459-170919482)	copy number loss	Hydrocephalus [RCV002280751]	Chr6:159121459..170919482 [GRCh37] Chr6:6q25.3-27	pathogenic
NM_001111077.2(EZR):c.929G>A (p.Arg310Gln)	single nucleotide variant	not specified [RCV004156347]	Chr6:158771274 [GRCh38] Chr6:159192306 [GRCh37] Chr6:6q25.3	uncertain significance
NM_001111077.2(EZR):c.1586G>A (p.Arg529Gln)	single nucleotide variant	not specified [RCV004147453]	Chr6:158767271 [GRCh38] Chr6:159188303 [GRCh37] Chr6:6q25.3	uncertain significance
NM_001111077.2(EZR):c.1010A>G (p.Lys337Arg)	single nucleotide variant	not specified [RCV004109006]	Chr6:158770844 [GRCh38] Chr6:159191876 [GRCh37] Chr6:6q25.3	uncertain significance
NM_001111077.2(EZR):c.1099G>A (p.Glu367Lys)	single nucleotide variant	not specified [RCV004124590]	Chr6:158769936 [GRCh38] Chr6:159190968 [GRCh37] Chr6:6q25.3	uncertain significance
NM_001111077.2(EZR):c.424C>T (p.His142Tyr)	single nucleotide variant	not specified [RCV004114242]	Chr6:158785352 [GRCh38] Chr6:159206384 [GRCh37] Chr6:6q25.3	uncertain significance
NM_001111077.2(EZR):c.808T>C (p.Tyr270His)	single nucleotide variant	not specified [RCV004126882]	Chr6:158771395 [GRCh38] Chr6:159192427 [GRCh37] Chr6:6q25.3	uncertain significance
NM_001111077.2(EZR):c.1352A>C (p.Glu451Ala)	single nucleotide variant	not specified [RCV004182738]	Chr6:158767505 [GRCh38] Chr6:159188537 [GRCh37] Chr6:6q25.3	uncertain significance
NM_001111077.2(EZR):c.1193G>A (p.Arg398Gln)	single nucleotide variant	not specified [RCV004121169]	Chr6:158769842 [GRCh38] Chr6:159190874 [GRCh37] Chr6:6q25.3	uncertain significance
NM_001111077.2(EZR):c.1606A>G (p.Ser536Gly)	single nucleotide variant	not specified [RCV004185759]	Chr6:158767069 [GRCh38] Chr6:159188101 [GRCh37] Chr6:6q25.3	uncertain significance
NM_001111077.2(EZR):c.758A>G (p.Lys253Arg)	single nucleotide variant	not specified [RCV004072816]	Chr6:158776445 [GRCh38] Chr6:159197477 [GRCh37] Chr6:6q25.3	uncertain significance
NM_001111077.2(EZR):c.497A>G (p.Asp166Gly)	single nucleotide variant	not specified [RCV004279196]	Chr6:158784698 [GRCh38] Chr6:159205730 [GRCh37] Chr6:6q25.3	uncertain significance
NM_001111077.2(EZR):c.1684C>T (p.Arg562Trp)	single nucleotide variant	not specified [RCV004281275]	Chr6:158766991 [GRCh38] Chr6:159188023 [GRCh37] Chr6:6q25.3	uncertain significance
NM_001111077.2(EZR):c.355C>G (p.Pro119Ala)	single nucleotide variant	not specified [RCV004321948]	Chr6:158785421 [GRCh38] Chr6:159206453 [GRCh37] Chr6:6q25.3	uncertain significance
NM_001111077.2(EZR):c.1701G>A (p.Thr567=)	single nucleotide variant	not specified [RCV004356260]	Chr6:158766974 [GRCh38] Chr6:159188006 [GRCh37] Chr6:6q25.3	likely benign
NM_001111077.2(EZR):c.900C>T (p.Ile300=)	single nucleotide variant	not provided [RCV003432150]	Chr6:158771303 [GRCh38] Chr6:159192335 [GRCh37] Chr6:6q25.3	likely benign
NM_001111077.2(EZR):c.1639_1640delinsGA (p.Arg547Glu)	indel	EZR-related disorder [RCV003392947]	Chr6:158767035..158767036 [GRCh38] Chr6:159188067..159188068 [GRCh37] Chr6:6q25.3	uncertain significance
NM_001111077.2(EZR):c.1636A>G (p.Lys546Glu)	single nucleotide variant	EZR-related disorder [RCV003410527]	Chr6:158767039 [GRCh38] Chr6:159188071 [GRCh37] Chr6:6q25.3	uncertain significance
NM_001111077.2(EZR):c.1090+8G>A	single nucleotide variant	EZR-related disorder [RCV003977286]	Chr6:158770756 [GRCh38] Chr6:159191788 [GRCh37] Chr6:6q25.3	benign
NM_001111077.2(EZR):c.1215A>G (p.Arg405=)	single nucleotide variant	EZR-related disorder [RCV003961503]	Chr6:158769820 [GRCh38] Chr6:159190852 [GRCh37] Chr6:6q25.3	likely benign
GRCh37/hg19 6q25.2-27(chr6:152853218-170914297)x1	copy number loss	See cases [RCV004442824]	Chr6:152853218..170914297 [GRCh37] Chr6:6q25.2-27	pathogenic
NM_001111077.2(EZR):c.1302G>A (p.Ala434=)	single nucleotide variant	EZR-related disorder [RCV003981782]	Chr6:158769368 [GRCh38] Chr6:159190400 [GRCh37] Chr6:6q25.3	likely benign
NM_001111077.2(EZR):c.120G>C (p.Arg40=)	single nucleotide variant	EZR-related disorder [RCV003979398]	Chr6:158787180 [GRCh38] Chr6:159208212 [GRCh37] Chr6:6q25.3	likely benign
NM_001111077.2(EZR):c.552-6A>G	single nucleotide variant	EZR-related disorder [RCV003964531]	Chr6:158783672 [GRCh38] Chr6:159204704 [GRCh37] Chr6:6q25.3	likely benign
NM_001111077.2(EZR):c.441C>G (p.Leu147=)	single nucleotide variant	EZR-related disorder [RCV003964267]	Chr6:158785335 [GRCh38] Chr6:159206367 [GRCh37] Chr6:6q25.3	likely benign
NM_001111077.2(EZR):c.1345-5C>T	single nucleotide variant	EZR-related disorder [RCV003981279]	Chr6:158767517 [GRCh38] Chr6:159188549 [GRCh37] Chr6:6q25.3	benign
NM_001111077.2(EZR):c.1050G>A (p.Arg350=)	single nucleotide variant	EZR-related disorder [RCV003949644]	Chr6:158770804 [GRCh38] Chr6:159191836 [GRCh37] Chr6:6q25.3	likely benign
NM_001111077.2(EZR):c.17A>G (p.Asn6Ser)	single nucleotide variant	EZR-related disorder [RCV003897249]	Chr6:158789367 [GRCh38] Chr6:159210399 [GRCh37] Chr6:6q25.3	benign
NC_000006.12:g.(?_150381239)_(159553952_?)del	deletion	Chromosome 6q24-q25 deletion syndrome [RCV003884000]	Chr6:150381239..159553952 [GRCh38] Chr6:6q25.1-25.3	pathogenic
NM_001111077.2(EZR):c.1283T>C (p.Ile428Thr)	single nucleotide variant	not specified [RCV004385756]	Chr6:158769387 [GRCh38] Chr6:159190419 [GRCh37] Chr6:6q25.3	uncertain significance
NM_001111077.2(EZR):c.1654A>G (p.Ile552Val)	single nucleotide variant	not specified [RCV004385758]	Chr6:158767021 [GRCh38] Chr6:159188053 [GRCh37] Chr6:6q25.3	uncertain significance
NM_001111077.2(EZR):c.1625G>A (p.Arg542Gln)	single nucleotide variant	not specified [RCV004385757]	Chr6:158767050 [GRCh38] Chr6:159188082 [GRCh37] Chr6:6q25.3	uncertain significance
NM_001111077.2(EZR):c.460C>T (p.Pro154Ser)	single nucleotide variant	not specified [RCV004385762]	Chr6:158785316 [GRCh38] Chr6:159206348 [GRCh37] Chr6:6q25.3	uncertain significance
NM_001111077.2(EZR):c.254A>C (p.Tyr85Ser)	single nucleotide variant	not specified [RCV004385761]	Chr6:158785522 [GRCh38] Chr6:159206554 [GRCh37] Chr6:6q25.3	uncertain significance
NM_001111077.2(EZR):c.940C>T (p.His314Tyr)	single nucleotide variant	not specified [RCV004385765]	Chr6:158771263 [GRCh38] Chr6:159192295 [GRCh37] Chr6:6q25.3	uncertain significance
NM_001111077.2(EZR):c.1655T>A (p.Ile552Asn)	single nucleotide variant	not specified [RCV004385759]	Chr6:158767020 [GRCh38] Chr6:159188052 [GRCh37] Chr6:6q25.3	uncertain significance
NM_001111077.2(EZR):c.650G>T (p.Trp217Leu)	single nucleotide variant	not specified [RCV004385763]	Chr6:158783568 [GRCh38] Chr6:159204600 [GRCh37] Chr6:6q25.3	uncertain significance
NM_001111077.2(EZR):c.1526G>A (p.Arg509Gln)	single nucleotide variant	not specified [RCV004623048]	Chr6:158767331 [GRCh38] Chr6:159188363 [GRCh37] Chr6:6q25.3	uncertain significance
NM_001111077.2(EZR):c.1464C>G (p.Ser488Arg)	single nucleotide variant	not specified [RCV004623049]	Chr6:158767393 [GRCh38] Chr6:159188425 [GRCh37] Chr6:6q25.3	uncertain significance
NM_001111077.2(EZR):c.253T>C (p.Tyr85His)	single nucleotide variant	not specified [RCV004623050]	Chr6:158785523 [GRCh38] Chr6:159206555 [GRCh37] Chr6:6q25.3	uncertain significance

miRNA Target Status

Confirmed Target Of

miRNA Gene	Mature miRNA	Method Name	Result Type	Data Type	Support Type	PMID
MIR183	hsa-miR-183-5p	Mirtarbase	external_info	Luciferase reporter assay	Functional MTI	18840437
MIR183	hsa-miR-183-5p	Mirecords	external_info	{unchanged}	NA	18840437
MIR183	hsa-miR-183-5p	OncomiRDB	external_info	NA	NA	22922800
MIR183	hsa-miR-183-5p	OncomiRDB	external_info	NA	NA	22525461
MIR183	hsa-miR-183-5p	OncomiRDB	external_info	NA	NA	18840437
MIR204	hsa-miR-204-5p	OncomiRDB	external_info	NA	NA	21416062
MIR204	hsa-miR-204-5p	Mirtarbase	external_info	Immunoblot//Luciferase reporter assay	Functional MTI	21416062

Predicted Target Of

	Summary Value
Count of predictions:	1415
Count of miRNA genes:	669
Interacting mature miRNAs:	748
Transcripts:	ENST00000337147, ENST00000367075, ENST00000392177, ENST00000476189
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
407092675	GWAS741651_H	hair color QTL GWAS741651 (human)		9e-55	hair color		6	158770756	158770757	Human
407013718	GWAS662694_H	testosterone measurement QTL GWAS662694 (human)		2e-09	testosterone measurement	serum testosterone level (CMO:0000568)	6	158803529	158803530	Human
407387100	GWAS1036076_H	serum alanine aminotransferase measurement QTL GWAS1036076 (human)		1e-12	serum alanine aminotransferase measurement	serum alanine aminotransferase activity level (CMO:0000575)	6	158809601	158809602	Human
1643404	BMD3_H	Bone mineral density QTL 3 (human)	2.42	0.0005	Bone mineral density		6	157563614	170805979	Human
407121697	GWAS770673_H	hair colour measurement QTL GWAS770673 (human)		7e-124	hair colour measurement	coat/hair color measurement (CMO:0001808)	6	158812011	158812012	Human
407318945	GWAS967921_H	brain measurement QTL GWAS967921 (human)		2e-09	brain measurement	brain measurement (CMO:0000911)	6	158810455	158810456	Human
407009188	GWAS658164_H	hair colour measurement QTL GWAS658164 (human)		1e-77	hair colour measurement	coat/hair color measurement (CMO:0001808)	6	158812011	158812012	Human
407297630	GWAS946606_H	serum alanine aminotransferase measurement QTL GWAS946606 (human)		8e-11	serum alanine aminotransferase measurement	serum alanine aminotransferase activity level (CMO:0000575)	6	158802736	158802737	Human
407018506	GWAS667482_H	bone density QTL GWAS667482 (human)		3e-15	bone mineral mass (VT:0005007)	bone mineral density (CMO:0001226)	6	158803337	158803338	Human
1643367	BW323_H	Body weight QTL 323 (human)	2.42	0.0005	Body fat amount		6	157563614	170805979	Human
407285481	GWAS934457_H	body height QTL GWAS934457 (human)		6e-29	body height (VT:0001253)	body height (CMO:0000106)	6	158801415	158801416	Human

Markers in Region

D6S1614

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	159,195,681 - 159,195,765	UniSTS	GRCh37
Build 36	6	159,115,669 - 159,115,753	RGD	NCBI36
Celera	6	159,843,691 - 159,843,765	RGD
Cytogenetic Map	6	q25.3	UniSTS
HuRef	6	156,666,209 - 156,666,283	UniSTS
Marshfield Genetic Map	6	159.98	RGD
Marshfield Genetic Map	6	159.98	UniSTS
Genethon Genetic Map	6	161.2	UniSTS

RH46601

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	159,186,795 - 159,186,951	UniSTS	GRCh37
Build 36	6	159,106,783 - 159,106,939	RGD	NCBI36
Celera	6	159,834,811 - 159,834,967	RGD
Cytogenetic Map	6	q25.3	UniSTS
HuRef	6	156,657,329 - 156,657,485	UniSTS
GeneMap99-GB4 RH Map	6	621.6	UniSTS
NCBI RH Map	6	1625.9	UniSTS

RH91385

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	159,206,406 - 159,206,542	UniSTS	GRCh37
Build 36	6	159,126,394 - 159,126,530	RGD	NCBI36
Celera	6	159,854,408 - 159,854,544	RGD
Cytogenetic Map	6	q25.3	UniSTS
HuRef	6	156,677,263 - 156,677,399	UniSTS
GeneMap99-GB4 RH Map	6	619.71	UniSTS

RH27492

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	159,187,133 - 159,187,201	UniSTS	GRCh37
Build 36	6	159,107,121 - 159,107,189	RGD	NCBI36
Celera	6	159,835,145 - 159,835,213	RGD
Cytogenetic Map	6	q25.3	UniSTS
HuRef	6	156,657,663 - 156,657,731	UniSTS

SHGC-149418

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	159,208,750 - 159,209,047	UniSTS	GRCh37
Build 36	6	159,128,738 - 159,129,035	RGD	NCBI36
Celera	6	159,856,753 - 159,857,050	RGD
Cytogenetic Map	6	q25.3	UniSTS
HuRef	6	156,679,608 - 156,679,905	UniSTS
TNG Radiation Hybrid Map	6	78956.0	UniSTS

D15S1323

Human Assembly	Chr	Position (strand)	Source
Celera	6	159,835,662 - 159,835,897	RGD
Cytogenetic Map	6	q25.3	UniSTS
HuRef	6	156,658,180 - 156,658,415	UniSTS
GeneMap99-G3 RH Map	3	5081.0	UniSTS

SHGC-30156

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	159,186,792 - 159,186,916	UniSTS	GRCh37
Build 36	6	159,106,780 - 159,106,904	RGD	NCBI36
Celera	6	159,834,808 - 159,834,932	RGD
Cytogenetic Map	6	q25.3	UniSTS
HuRef	6	156,657,326 - 156,657,450	UniSTS
GeneMap99-GB4 RH Map	6	621.6	UniSTS
Whitehead-RH Map	6	829.0	UniSTS
NCBI RH Map	6	1633.8	UniSTS
GeneMap99-G3 RH Map	6	6551.0	UniSTS

SHGC-146276

Human Assembly	Chr	Position (strand)	Source
Cytogenetic Map	6	q25.3	UniSTS
HuRef	6	156,673,307 - 156,673,647	UniSTS
TNG Radiation Hybrid Map	6	78942.0	UniSTS

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	2439	2788	2253	4974	1726	2351	6	624	1951	465	2270	7306	6472	53	3734	1	852	1744	1617	175	1

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_052952	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001111077	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_003379	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011536110	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054356313	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AF187552	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF188896	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF188897	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF189213	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF190059	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF199015	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AI366687	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK129727	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK296738	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK299456	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK312597	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK316031	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL162086	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL589931	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC013903	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC068458	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471051	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068272	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA754543	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA783190	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF184645	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	FJ224318	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	J05021	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	X51521	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000337147 ⟹ ENSP00000338934

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	158,765,741 - 158,818,227 (-)	Ensembl

Ensembl Acc Id:

ENST00000367075 ⟹ ENSP00000356042

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	158,765,748 - 158,819,368 (-)	Ensembl

Ensembl Acc Id:

ENST00000392177 ⟹ ENSP00000376016

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	158,765,742 - 158,789,474 (-)	Ensembl

Ensembl Acc Id:

ENST00000476189

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	158,783,534 - 158,819,349 (-)	Ensembl

RefSeq Acc Id:

NM_001111077 ⟹ NP_001104547

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	158,765,748 - 158,819,368 (-)	NCBI
GRCh37	6	159,186,773 - 159,240,456 (-)	ENTREZGENE
HuRef	6	156,657,307 - 156,711,123 (-)	ENTREZGENE
CHM1_1	6	159,449,491 - 159,503,058 (-)	NCBI
T2T-CHM13v2.0	6	160,010,984 - 160,064,812 (-)	NCBI

Sequence:

show sequence

ACTCGGCGGACGCAAGGGCGGCGGGGAGCACACGGAGCACTGCAGGCGCCGGGTTGGGACAGCG
TCTTCGCTGCTGCTGGATAGTCGTGTTTTCGGGGATCGAGGATACTCACCAGAAACCGAAAATG
CCGAAACCAATCAATGTCCGAGTTACCACCATGGATGCAGAGCTGGAGTTTGCAATCCAGCCAA
ATACAACTGGAAAACAGCTTTTTGATCAGGTGGTAAAGACTATCGGCCTCCGGGAAGTGTGGTA
CTTTGGCCTCCACTATGTGGATAATAAAGGATTTCCTACCTGGCTGAAGCTGGATAAGAAGGTG
TCTGCCCAGGAGGTCAGGAAGGAGAATCCCCTCCAGTTCAAGTTCCGGGCCAAGTTCTACCCTG
AAGATGTGGCTGAGGAGCTCATCCAGGACATCACCCAGAAACTTTTCTTCCTCCAAGTGAAGGA
AGGAATCCTTAGCGATGAGATCTACTGCCCCCCTGAGACTGCCGTGCTCTTGGGGTCCTACGCT
GTGCAGGCCAAGTTTGGGGACTACAACAAAGAAGTGCACAAGTCTGGGTACCTCAGCTCTGAGC
GGCTGATCCCTCAAAGAGTGATGGACCAGCACAAACTTACCAGGGACCAGTGGGAGGACCGGAT
CCAGGTGTGGCATGCGGAACACCGTGGGATGCTCAAAGATAATGCTATGTTGGAATACCTGAAG
ATTGCTCAGGACCTGGAAATGTATGGAATCAACTATTTCGAGATAAAAAACAAGAAAGGAACAG
ACCTTTGGCTTGGAGTTGATGCCCTTGGACTGAATATTTATGAGAAAGATGATAAGTTAACCCC
AAAGATTGGCTTTCCTTGGAGTGAAATCAGGAACATCTCTTTCAATGACAAAAAGTTTGTCATT
AAACCCATCGACAAGAAGGCACCTGACTTTGTGTTTTATGCCCCACGTCTGAGAATCAACAAGC
GGATCCTGCAGCTCTGCATGGGCAACCATGAGTTGTATATGCGCCGCAGGAAGCCTGACACCAT
CGAGGTGCAGCAGATGAAGGCCCAGGCCCGGGAGGAGAAGCATCAGAAGCAGCTGGAGCGGCAA
CAGCTGGAAACAGAGAAGAAAAGGAGAGAAACCGTGGAGAGAGAGAAAGAGCAGATGATGCGCG
AGAAGGAGGAGTTGATGCTGCGGCTGCAGGACTATGAGGAGAAGACAAAGAAGGCAGAGAGAGA
GCTCTCGGAGCAGATTCAGAGGGCCCTGCAGCTGGAGGAGGAGAGGAAGCGGGCACAGGAGGAG
GCCGAGCGCCTAGAGGCTGACCGTATGGCTGCACTGCGGGCTAAGGAGGAGCTGGAGAGACAGG
CGGTGGATCAGATAAAGAGCCAGGAGCAGCTGGCTGCGGAGCTTGCAGAATACACTGCCAAGAT
TGCCCTCCTGGAAGAGGCGCGGAGGCGCAAGGAGGATGAAGTTGAAGAGTGGCAGCACAGGGCC
AAAGAAGCCCAGGATGACCTGGTGAAGACCAAGGAGGAGCTGCACCTGGTGATGACAGCACCCC
CGCCCCCACCACCCCCCGTGTACGAGCCGGTGAGCTACCATGTCCAGGAGAGCTTGCAGGATGA
GGGCGCAGAGCCCACGGGCTACAGCGCGGAGCTGTCTAGTGAGGGCATCCGGGATGACCGCAAT
GAGGAGAAGCGCATCACTGAGGCAGAGAAGAACGAGCGTGTGCAGCGGCAGCTGCTGACGCTGA
GCAGCGAGCTGTCCCAGGCCCGAGATGAGAATAAGAGGACCCACAATGACATCATCCACAACGA
GAACATGAGGCAAGGCCGGGACAAGTACAAGACGCTGCGGCAGATCCGGCAGGGCAACACCAAG
CAGCGCATCGACGAGTTCGAGGCCCTGTAACAGCCAGGCCAGGACCAAGGGCAGAGGGGTGCTC
ATAGCGGGCGCTGCCAGCCCCGCCACGCTTGTGTCTTTAGTGCTCCAAGTCTAGGAACTCCCTC
AGATCCCAGTTCCTTTAGAAAGCAGTTACCCAACAGAAACATTCTGGGCTGGGAACCAGGGAGG
CGCCCTGGTTTGTTTTCCCCAGTTGTAATAGTGCCAAGCAGGCCTGATTCTCGCGATTATTCTC
GAATCACCTCCTGTGTTGTGCTGGGAGCAGGACTGATTGAATTACGGAAAATGCCTGTAAAGTC
TGAGTAAGAAACTTCATGCTGGCCTGTGTGATACAAGAGTCAGCATCATTAAAGGAAACGTGGC
AGGACTTCCATCTGTGCCATACTTGTTCTGTATTCGAAATGAGCTCAAATTGATTTTTTAATTT
CTATGAAGGATCCATCTTTGTATATTTACATGCTTAGAGGGGTGAAAATTATTTTGGAAATTGA
GTCTGAAGCACTCTCGCACACACAGTGATTCCCTCCTCCCGTCACTCCACGCAGCTGGCAGAGA
GCACAGTGATCACCAGCGTGAGTGGTGGAGGAGGACACTTGGATTTTTTTTTTTGTTTTTTTTT
TTTTTGCTTAACAGTTTTAGAATACATTGTACTTATACACCTTATTAATGATCAGCTATATACT
ATTTATATACAAGTGATAATACAGATTTGTAACATTAGTTTTAAAAAGGGAAAGTTTTGTTCTG
TATATTTTGTTACCTTTTACAGAATAAAAGAATTACATATGAAAAACCCTCTAAACCATGGCAC
TTGATGTGATGTGGCAGGAGGGCAGTGGTGGAGCTGGACCTGCCTGCTGCAGTCACGTGTAAAC
AGGATTATTATTAGTGTTTTATGCATGTAATGGACTATGCACACTTTTAATTTTGTCAGATTCA
CACATGCCACTATGAGCTTTCAGACTCCAGCTGTGAAGAGACTCTGTTTGCTTGTGTTTGTTTG
TTTGCAGTCTCTCTCTGCCATGGCCTTGGCAGGCTGCTGGAAGGCAGCTTGTGGAGGCCGTTGG
TTCCGCCCACTCATTCCTTCTCGTGCACTGCTTTCTCCTTCACAGCTAAGATGCCATGTGCAGG
TGGATTCCATGCCGCAGACATGAAATAAAAGCTTTGCAAAGGCA

hide sequence

RefSeq Acc Id:

NM_003379 ⟹ NP_003370

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	158,765,748 - 158,818,235 (-)	NCBI
GRCh37	6	159,186,773 - 159,240,456 (-)	ENTREZGENE
Build 36	6	159,106,764 - 159,159,247 (-)	NCBI Archive
HuRef	6	156,657,307 - 156,711,123 (-)	ENTREZGENE
CHM1_1	6	159,449,491 - 159,501,942 (-)	NCBI
T2T-CHM13v2.0	6	160,010,984 - 160,063,679 (-)	NCBI

Sequence:

show sequence

GAGTGTCGGGCGCGGCAGGAGGACGAGGCAGGGCGGGCGGGCGCTCTAAGGGTTCTGCTCTGAC
TCCAGGTTGGGACAGCGTCTTCGCTGCTGCTGGATAGTCGTGTTTTCGGGGATCGAGGATACTC
ACCAGAAACCGAAAATGCCGAAACCAATCAATGTCCGAGTTACCACCATGGATGCAGAGCTGGA
GTTTGCAATCCAGCCAAATACAACTGGAAAACAGCTTTTTGATCAGGTGGTAAAGACTATCGGC
CTCCGGGAAGTGTGGTACTTTGGCCTCCACTATGTGGATAATAAAGGATTTCCTACCTGGCTGA
AGCTGGATAAGAAGGTGTCTGCCCAGGAGGTCAGGAAGGAGAATCCCCTCCAGTTCAAGTTCCG
GGCCAAGTTCTACCCTGAAGATGTGGCTGAGGAGCTCATCCAGGACATCACCCAGAAACTTTTC
TTCCTCCAAGTGAAGGAAGGAATCCTTAGCGATGAGATCTACTGCCCCCCTGAGACTGCCGTGC
TCTTGGGGTCCTACGCTGTGCAGGCCAAGTTTGGGGACTACAACAAAGAAGTGCACAAGTCTGG
GTACCTCAGCTCTGAGCGGCTGATCCCTCAAAGAGTGATGGACCAGCACAAACTTACCAGGGAC
CAGTGGGAGGACCGGATCCAGGTGTGGCATGCGGAACACCGTGGGATGCTCAAAGATAATGCTA
TGTTGGAATACCTGAAGATTGCTCAGGACCTGGAAATGTATGGAATCAACTATTTCGAGATAAA
AAACAAGAAAGGAACAGACCTTTGGCTTGGAGTTGATGCCCTTGGACTGAATATTTATGAGAAA
GATGATAAGTTAACCCCAAAGATTGGCTTTCCTTGGAGTGAAATCAGGAACATCTCTTTCAATG
ACAAAAAGTTTGTCATTAAACCCATCGACAAGAAGGCACCTGACTTTGTGTTTTATGCCCCACG
TCTGAGAATCAACAAGCGGATCCTGCAGCTCTGCATGGGCAACCATGAGTTGTATATGCGCCGC
AGGAAGCCTGACACCATCGAGGTGCAGCAGATGAAGGCCCAGGCCCGGGAGGAGAAGCATCAGA
AGCAGCTGGAGCGGCAACAGCTGGAAACAGAGAAGAAAAGGAGAGAAACCGTGGAGAGAGAGAA
AGAGCAGATGATGCGCGAGAAGGAGGAGTTGATGCTGCGGCTGCAGGACTATGAGGAGAAGACA
AAGAAGGCAGAGAGAGAGCTCTCGGAGCAGATTCAGAGGGCCCTGCAGCTGGAGGAGGAGAGGA
AGCGGGCACAGGAGGAGGCCGAGCGCCTAGAGGCTGACCGTATGGCTGCACTGCGGGCTAAGGA
GGAGCTGGAGAGACAGGCGGTGGATCAGATAAAGAGCCAGGAGCAGCTGGCTGCGGAGCTTGCA
GAATACACTGCCAAGATTGCCCTCCTGGAAGAGGCGCGGAGGCGCAAGGAGGATGAAGTTGAAG
AGTGGCAGCACAGGGCCAAAGAAGCCCAGGATGACCTGGTGAAGACCAAGGAGGAGCTGCACCT
GGTGATGACAGCACCCCCGCCCCCACCACCCCCCGTGTACGAGCCGGTGAGCTACCATGTCCAG
GAGAGCTTGCAGGATGAGGGCGCAGAGCCCACGGGCTACAGCGCGGAGCTGTCTAGTGAGGGCA
TCCGGGATGACCGCAATGAGGAGAAGCGCATCACTGAGGCAGAGAAGAACGAGCGTGTGCAGCG
GCAGCTGCTGACGCTGAGCAGCGAGCTGTCCCAGGCCCGAGATGAGAATAAGAGGACCCACAAT
GACATCATCCACAACGAGAACATGAGGCAAGGCCGGGACAAGTACAAGACGCTGCGGCAGATCC
GGCAGGGCAACACCAAGCAGCGCATCGACGAGTTCGAGGCCCTGTAACAGCCAGGCCAGGACCA
AGGGCAGAGGGGTGCTCATAGCGGGCGCTGCCAGCCCCGCCACGCTTGTGTCTTTAGTGCTCCA
AGTCTAGGAACTCCCTCAGATCCCAGTTCCTTTAGAAAGCAGTTACCCAACAGAAACATTCTGG
GCTGGGAACCAGGGAGGCGCCCTGGTTTGTTTTCCCCAGTTGTAATAGTGCCAAGCAGGCCTGA
TTCTCGCGATTATTCTCGAATCACCTCCTGTGTTGTGCTGGGAGCAGGACTGATTGAATTACGG
AAAATGCCTGTAAAGTCTGAGTAAGAAACTTCATGCTGGCCTGTGTGATACAAGAGTCAGCATC
ATTAAAGGAAACGTGGCAGGACTTCCATCTGTGCCATACTTGTTCTGTATTCGAAATGAGCTCA
AATTGATTTTTTAATTTCTATGAAGGATCCATCTTTGTATATTTACATGCTTAGAGGGGTGAAA
ATTATTTTGGAAATTGAGTCTGAAGCACTCTCGCACACACAGTGATTCCCTCCTCCCGTCACTC
CACGCAGCTGGCAGAGAGCACAGTGATCACCAGCGTGAGTGGTGGAGGAGGACACTTGGATTTT
TTTTTTTGTTTTTTTTTTTTTTGCTTAACAGTTTTAGAATACATTGTACTTATACACCTTATTA
ATGATCAGCTATATACTATTTATATACAAGTGATAATACAGATTTGTAACATTAGTTTTAAAAA
GGGAAAGTTTTGTTCTGTATATTTTGTTACCTTTTACAGAATAAAAGAATTACATATGAAAAAC
CCTCTAAACCATGGCACTTGATGTGATGTGGCAGGAGGGCAGTGGTGGAGCTGGACCTGCCTGC
TGCAGTCACGTGTAAACAGGATTATTATTAGTGTTTTATGCATGTAATGGACTATGCACACTTT
TAATTTTGTCAGATTCACACATGCCACTATGAGCTTTCAGACTCCAGCTGTGAAGAGACTCTGT
TTGCTTGTGTTTGTTTGTTTGCAGTCTCTCTCTGCCATGGCCTTGGCAGGCTGCTGGAAGGCAG
CTTGTGGAGGCCGTTGGTTCCGCCCACTCATTCCTTCTCGTGCACTGCTTTCTCCTTCACAGCT
AAGATGCCATGTGCAGGTGGATTCCATGCCGCAGACATGAAATAAAAGCTTTGCAAAGGCA

hide sequence

RefSeq Acc Id:

XM_011536110 ⟹ XP_011534412

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	158,765,748 - 158,789,346 (-)	NCBI

Sequence:

show sequence

ATGCAGAGCTGGAGTTTGCAATCCAGCCAAATACAACTGGAAAACAGCTTTTTGATCAGAGTGA
TGGACCAGCACAAACTTACCAGGGACCAGTGGGAGGACCGGATCCAGGTGTGGCATGCGGAACA
CCGTGGGATGCTCAAAGATAATGCTATGTTGGAATACCTGAAGATTGCTCAGGACCTGGAAATG
TATGGAATCAACTATTTCGAGATAAAAAACAAGAAAGGAACAGACCTTTGGCTTGGAGTTGATG
CCCTTGGACTGAATATTTATGAGAAAGATGATAAGTTAACCCCAAAGATTGGCTTTCCTTGGAG
TGAAATCAGGAACATCTCTTTCAATGACAAAAAGTTTGTCATTAAACCCATCGACAAGAAGGCA
CCTGACTTTGTGTTTTATGCCCCACGTCTGAGAATCAACAAGCGGATCCTGCAGCTCTGCATGG
GCAACCATGAGTTGTATATGCGCCGCAGGAAGCCTGACACCATCGAGGTGCAGCAGATGAAGGC
CCAGGCCCGGGAGGAGAAGCATCAGAAGCAGCTGGAGCGGCAACAGCTGGAAACAGAGAAGAAA
AGGAGAGAAACCGTGGAGAGAGAGAAAGAGCAGATGATGCGCGAGAAGGAGGAGTTGATGCTGC
GGCTGCAGGACTATGAGGAGAAGACAAAGAAGGCAGAGAGAGAGCTCTCGGAGCAGATTCAGAG
GGCCCTGCAGCTGGAGGAGGAGAGGAAGCGGGCACAGGAGGAGGCCGAGCGCCTAGAGGCTGAC
CGTATGGCTGCACTGCGGGCTAAGGAGGAGCTGGAGAGACAGGCGGTGGATCAGATAAAGAGCC
AGGAGCAGCTGGCTGCGGAGCTTGCAGAATACACTGCCAAGATTGCCCTCCTGGAAGAGGCGCG
GAGGCGCAAGGAGGATGAAGTTGAAGAGTGGCAGCACAGGGCCAAAGAAGCCCAGGATGACCTG
GTGAAGACCAAGGAGGAGCTGCACCTGGTGATGACAGCACCCCCGCCCCCACCACCCCCCGTGT
ACGAGCCGGTGAGCTACCATGTCCAGGAGAGCTTGCAGGATGAGGGCGCAGAGCCCACGGGCTA
CAGCGCGGAGCTGTCTAGTGAGGGCATCCGGGATGACCGCAATGAGGAGAAGCGCATCACTGAG
GCAGAGAAGAACGAGCGTGTGCAGCGGCAGCTGCTGACGCTGAGCAGCGAGCTGTCCCAGGCCC
GAGATGAGAATAAGAGGACCCACAATGACATCATCCACAACGAGAACATGAGGCAAGGCCGGGA
CAAGTACAAGACGCTGCGGCAGATCCGGCAGGGCAACACCAAGCAGCGCATCGACGAGTTCGAG
GCCCTGTAACAGCCAGGCCAGGACCAAGGGCAGAGGGGTGCTCATAGCGGGCGCTGCCAGCCCC
GCCACGCTTGTGTCTTTAGTGCTCCAAGTCTAGGAACTCCCTCAGATCCCAGTTCCTTTAGAAA
GCAGTTACCCAACAGAAACATTCTGGGCTGGGAACCAGGGAGGCGCCCTGGTTTGTTTTCCCCA
GTTGTAATAGTGCCAAGCAGGCCTGATTCTCGCGATTATTCTCGAATCACCTCCTGTGTTGTGC
TGGGAGCAGGACTGATTGAATTACGGAAAATGCCTGTAAAGTCTGAGTAAGAAACTTCATGCTG
GCCTGTGTGATACAAGAGTCAGCATCATTAAAGGAAACGTGGCAGGACTTCCATCTGTGCCATA
CTTGTTCTGTATTCGAAATGAGCTCAAATTGATTTTTTAATTTCTATGAAGGATCCATCTTTGT
ATATTTACATGCTTAGAGGGGTGAAAATTATTTTGGAAATTGAGTCTGAAGCACTCTCGCACAC
ACAGTGATTCCCTCCTCCCGTCACTCCACGCAGCTGGCAGAGAGCACAGTGATCACCAGCGTGA
GTGGTGGAGGAGGACACTTGGATTTTTTTTTTTGTTTTTTTTTTTTTTGCTTAACAGTTTTAGA
ATACATTGTACTTATACACCTTATTAATGATCAGCTATATACTATTTATATACAAGTGATAATA
CAGATTTGTAACATTAGTTTTAAAAAGGGAAAGTTTTGTTCTGTATATTTTGTTACCTTTTACA
GAATAAAAGAATTACATATGAAAAACCCTCTAAACCATGGCACTTGATGTGATGTGGCAGGAGG
GCAGTGGTGGAGCTGGACCTGCCTGCTGCAGTCACGTGTAAACAGGATTATTATTAGTGTTTTA
TGCATGTAATGGACTATGCACACTTTTAATTTTGTCAGATTCACACATGCCACTATGAGCTTTC
AGACTCCAGCTGTGAAGAGACTCTGTTTGCTTGTGTTTGTTTGTTTGCAGTCTCTCTCTGCCAT
GGCCTTGGCAGGCTGCTGGAAGGCAGCTTGTGGAGGCCGTTGGTTCCGCCCACTCATTCCTTCT
CGTGCACTGCTTTCTCCTTCACAGCTAAGATGCCATGTGCAGGTGGATTCCATGCCGCAGACAT
GAAATAAAAGCTTTGCAAAGGCACGAA

hide sequence

RefSeq Acc Id:

XM_054356313 ⟹ XP_054212288

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	6	160,010,984 - 160,034,914 (-)	NCBI

Protein Sequences


Protein RefSeqs	NP_001104547	(Get FASTA)	NCBI Sequence Viewer
	NP_003370	(Get FASTA)	NCBI Sequence Viewer
	XP_011534412	(Get FASTA)	NCBI Sequence Viewer
	XP_054212288	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAA61278	(Get FASTA)	NCBI Sequence Viewer
	AAD56713	(Get FASTA)	NCBI Sequence Viewer
	AAF03154	(Get FASTA)	NCBI Sequence Viewer
	AAF03155	(Get FASTA)	NCBI Sequence Viewer
	AAF03156	(Get FASTA)	NCBI Sequence Viewer
	AAF03158	(Get FASTA)	NCBI Sequence Viewer
	AAF09502	(Get FASTA)	NCBI Sequence Viewer
	AAH13903	(Get FASTA)	NCBI Sequence Viewer
	AAH68458	(Get FASTA)	NCBI Sequence Viewer
	ACI46010	(Get FASTA)	NCBI Sequence Viewer
	BAG35489	(Get FASTA)	NCBI Sequence Viewer
	BAH12423	(Get FASTA)	NCBI Sequence Viewer
	BAH13038	(Get FASTA)	NCBI Sequence Viewer
	BAH14402	(Get FASTA)	NCBI Sequence Viewer
	CAA35893	(Get FASTA)	NCBI Sequence Viewer
	CAB82418	(Get FASTA)	NCBI Sequence Viewer
	EAW47646	(Get FASTA)	NCBI Sequence Viewer
	EAW47647	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000338934
	ENSP00000338934.7
	ENSP00000356042
	ENSP00000356042.3
GenBank Protein	P15311	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_001104547 ⟸ NM_001111077

- UniProtKB:

Q96CU8 (UniProtKB/Swiss-Prot), Q4VX75 (UniProtKB/Swiss-Prot), P23714 (UniProtKB/Swiss-Prot), E1P5A8 (UniProtKB/Swiss-Prot), Q9NSJ4 (UniProtKB/Swiss-Prot), P15311 (UniProtKB/Swiss-Prot), B2R6J2 (UniProtKB/TrEMBL), V9HW42 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MPKPINVRVTTMDAELEFAIQPNTTGKQLFDQVVKTIGLREVWYFGLHYVDNKGFPTWLKLDKK
VSAQEVRKENPLQFKFRAKFYPEDVAEELIQDITQKLFFLQVKEGILSDEIYCPPETAVLLGSY
AVQAKFGDYNKEVHKSGYLSSERLIPQRVMDQHKLTRDQWEDRIQVWHAEHRGMLKDNAMLEYL
KIAQDLEMYGINYFEIKNKKGTDLWLGVDALGLNIYEKDDKLTPKIGFPWSEIRNISFNDKKFV
IKPIDKKAPDFVFYAPRLRINKRILQLCMGNHELYMRRRKPDTIEVQQMKAQAREEKHQKQLER
QQLETEKKRRETVEREKEQMMREKEELMLRLQDYEEKTKKAERELSEQIQRALQLEEERKRAQE
EAERLEADRMAALRAKEELERQAVDQIKSQEQLAAELAEYTAKIALLEEARRRKEDEVEEWQHR
AKEAQDDLVKTKEELHLVMTAPPPPPPPVYEPVSYHVQESLQDEGAEPTGYSAELSSEGIRDDR
NEEKRITEAEKNERVQRQLLTLSSELSQARDENKRTHNDIIHNENMRQGRDKYKTLRQIRQGNT
KQRIDEFEAL

hide sequence

RefSeq Acc Id:

NP_003370 ⟸ NM_003379

- UniProtKB:

- Sequence:

show sequence

MPKPINVRVTTMDAELEFAIQPNTTGKQLFDQVVKTIGLREVWYFGLHYVDNKGFPTWLKLDKK
VSAQEVRKENPLQFKFRAKFYPEDVAEELIQDITQKLFFLQVKEGILSDEIYCPPETAVLLGSY
AVQAKFGDYNKEVHKSGYLSSERLIPQRVMDQHKLTRDQWEDRIQVWHAEHRGMLKDNAMLEYL
KIAQDLEMYGINYFEIKNKKGTDLWLGVDALGLNIYEKDDKLTPKIGFPWSEIRNISFNDKKFV
IKPIDKKAPDFVFYAPRLRINKRILQLCMGNHELYMRRRKPDTIEVQQMKAQAREEKHQKQLER
QQLETEKKRRETVEREKEQMMREKEELMLRLQDYEEKTKKAERELSEQIQRALQLEEERKRAQE
EAERLEADRMAALRAKEELERQAVDQIKSQEQLAAELAEYTAKIALLEEARRRKEDEVEEWQHR
AKEAQDDLVKTKEELHLVMTAPPPPPPPVYEPVSYHVQESLQDEGAEPTGYSAELSSEGIRDDR
NEEKRITEAEKNERVQRQLLTLSSELSQARDENKRTHNDIIHNENMRQGRDKYKTLRQIRQGNT
KQRIDEFEAL

hide sequence

RefSeq Acc Id:	XP_011534412 ⟸ XM_011536110
- Peptide Label:	isoform X1
- UniProtKB:	B7Z437 (UniProtKB/TrEMBL)
- Sequence:	show sequence MQSWSLQSSQIQLENSFLIRVMDQHKLTRDQWEDRIQVWHAEHRGMLKDNAMLEYLKIAQDLEM YGINYFEIKNKKGTDLWLGVDALGLNIYEKDDKLTPKIGFPWSEIRNISFNDKKFVIKPIDKKA PDFVFYAPRLRINKRILQLCMGNHELYMRRRKPDTIEVQQMKAQAREEKHQKQLERQQLETEKK RRETVEREKEQMMREKEELMLRLQDYEEKTKKAERELSEQIQRALQLEEERKRAQEEAERLEAD RMAALRAKEELERQAVDQIKSQEQLAAELAEYTAKIALLEEARRRKEDEVEEWQHRAKEAQDDL VKTKEELHLVMTAPPPPPPPVYEPVSYHVQESLQDEGAEPTGYSAELSSEGIRDDRNEEKRITE AEKNERVQRQLLTLSSELSQARDENKRTHNDIIHNENMRQGRDKYKTLRQIRQGNTKQRIDEFE AL hide sequence

Ensembl Acc Id:

ENSP00000338934 ⟸ ENST00000337147

Ensembl Acc Id:

ENSP00000356042 ⟸ ENST00000367075

Ensembl Acc Id:

ENSP00000376016 ⟸ ENST00000392177

RefSeq Acc Id:	XP_054212288 ⟸ XM_054356313
- Peptide Label:	isoform X1

Protein Domains

FERM

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-P15311-F1-model_v2	AlphaFold	P15311	1-586	view protein structure

Promoters

RGD ID:

7209561

Promoter ID:

EPDNEW_H10526

Type:

initiation region

Name:

EZR_2

Description:

ezrin

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H10527

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	158,818,235 - 158,818,295	EPDNEW

RGD ID:

7209563

Promoter ID:

EPDNEW_H10527

Type:

initiation region

Name:

EZR_1

Description:

ezrin

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H10526

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	158,819,364 - 158,819,424	EPDNEW

RGD ID:

6804005

Promoter ID:

HG_KWN:55624

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell_12Hour, Lymphoblastoid

Transcripts:

ENST00000367074, ENST00000392177

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	6	159,130,149 - 159,130,649 (-)	MPROMDB

RGD ID:

6804214

Promoter ID:

HG_KWN:55627

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

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

Transcripts:

NM_003379

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	6	159,159,151 - 159,160,287 (-)	MPROMDB

RGD ID:

6804215

Promoter ID:

HG_KWN:55628

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

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

Transcripts:

NM_001111077, OTTHUMT00000042880

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	6	159,160,199 - 159,160,699 (-)	MPROMDB

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:12691	AgrOrtholog
COSMIC	EZR	COSMIC
Ensembl Genes	ENSG00000092820	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000337147	ENTREZGENE
	ENST00000337147.11	UniProtKB/Swiss-Prot
	ENST00000367075	ENTREZGENE
	ENST00000367075.4	UniProtKB/Swiss-Prot
Gene3D-CATH	1.20.5.450	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	1.20.80.10	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	2.30.29.30	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	6.10.360.10	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000092820	GTEx
HGNC ID	HGNC:12691	ENTREZGENE
Human Proteome Map	EZR	Human Proteome Map
InterPro	Band_41_domain	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ERM	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ERM_C_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ERM_FERM_C	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ERM_helical	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Ez/rad/moesin-like	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	FERM/acyl-CoA-bd_prot_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	FERM_2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	FERM_central	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	FERM_CS	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	FERM_domain	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	FERM_N	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	FERM_PH-like_C	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Moesin_tail_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PH-like_dom_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Ubiquitin-like_domsf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:7430	UniProtKB/Swiss-Prot
NCBI Gene	7430	ENTREZGENE
OMIM	123900	OMIM
PANTHER	EZRIN	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PTHR23281	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	ERM_C	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ERM_helical	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	FERM_C	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	FERM_M	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	FERM_N	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA162385512	PharmGKB
PIRSF	ERM	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS	BAND41	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ERMFAMILY	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE	FERM_1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	FERM_2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	FERM_3	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	B41	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	FERM_C	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	PH domain-like	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SSF47031	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SSF48678	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SSF54236	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	B2R6J2	ENTREZGENE, UniProtKB/TrEMBL
	B7Z437	ENTREZGENE, UniProtKB/TrEMBL
	E1P5A8	ENTREZGENE
	EZRI_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
	P23714	ENTREZGENE
	Q4VX75	ENTREZGENE
	Q6NUR7_HUMAN	UniProtKB/TrEMBL
	Q96CU8	ENTREZGENE
	Q9NSJ4	ENTREZGENE
	V9HW42	ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary	E1P5A8	UniProtKB/Swiss-Prot
	P23714	UniProtKB/Swiss-Prot
	Q4VX75	UniProtKB/Swiss-Prot
	Q96CU8	UniProtKB/Swiss-Prot
	Q9NSJ4	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)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

RGD Manual Annotations

Imported Annotations - KEGG (archival)

Imported Annotations - PID (archival)

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Imported Disease Annotations - ClinVar

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Imported Annotations - KEGG (archival)

Imported Annotations - PID (archival)