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Protein

Merlin

Gene

NF2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Probable regulator of the Hippo/SWH (Sav/Wts/Hpo) signaling pathway, a signaling pathway that plays a pivotal role in tumor suppression by restricting proliferation and promoting apoptosis. Along with WWC1 can synergistically induce the phosphorylation of LATS1 and LATS2 and can probably function in the regulation of the Hippo/SWH (Sav/Wts/Hpo) signaling pathway. May act as a membrane stabilizing protein. May inhibit PI3 kinase by binding to AGAP2 and impairing its stimulating activity. Suppresses cell proliferation and tumorigenesis by inhibiting the CUL4A-RBX1-DDB1-VprBP/DCAF1 E3 ubiquitin-protein ligase complex.3 Publications

GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

ReactomeiR-HSA-2029482 Regulation of actin dynamics for phagocytic cup formation
R-HSA-5627123 RHO GTPases activate PAKs
SignaLinkiP35240
SIGNORiP35240

Names & Taxonomyi

Protein namesi
Recommended name:
Merlin
Alternative name(s):
Moesin-ezrin-radixin-like protein
Neurofibromin-2
Schwannomerlin
Schwannomin
Gene namesi
Name:NF2
Synonyms:SCH
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 22

Organism-specific databases

EuPathDBiHostDB:ENSG00000186575.17
HGNCiHGNC:7773 NF2
MIMi607379 gene
neXtProtiNX_P35240

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell membrane, Cell projection, Cytoplasm, Cytoskeleton, Membrane, Nucleus

Pathology & Biotechi

Involvement in diseasei

Neurofibromatosis 2 (NF2)14 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionGenetic disorder characterized by bilateral vestibular schwannomas (formerly called acoustic neuromas), schwannomas of other cranial and peripheral nerves, meningiomas, and ependymomas. It is inherited in an autosomal dominant fashion with full penetrance. Affected individuals generally develop symptoms of eighth-nerve dysfunction in early adulthood, including deafness and balance disorder. Although the tumors of NF2 are histologically benign, their anatomic location makes management difficult, and patients suffer great morbidity and mortality.
See also OMIM:101000
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00081062F → S in NF2; loss of ability to interact with the CUL4A-RBX1-DDB1-VprBP/DCAF1 E3 ubiquitin-protein ligase complex. 4 PublicationsCorresponds to variant dbSNP:rs121434261EnsemblClinVar.1
Natural variantiVAR_04301177M → V in NF2. 1 Publication1
Natural variantiVAR_00081296Missing in NF2; also found in sporadic meningioma. 2 Publications1
Natural variantiVAR_000813106E → G in NF2. 2 Publications1
Natural variantiVAR_065227133C → R in NF2. 1 Publication1
Natural variantiVAR_043012141L → P in NF2; loss of ability to interact with the CUL4A-RBX1-DDB1-VprBP/DCAF1 E3 ubiquitin-protein ligase complex. 2 Publications1
Natural variantiVAR_043013197G → C in NF2. 1 Publication1
Natural variantiVAR_000818220N → Y in NF2. 1 Publication1
Natural variantiVAR_009123234L → R in NF2; also found in retinal hamartoma; severe. 1 Publication1
Natural variantiVAR_000821352T → M in NF2. 2 PublicationsCorresponds to variant dbSNP:rs764441073Ensembl.1
Natural variantiVAR_000822360L → P in NF2. Corresponds to variant dbSNP:rs74315492EnsemblClinVar.1
Natural variantiVAR_043014413K → E in NF2. 2 PublicationsCorresponds to variant dbSNP:rs766974263Ensembl.1
Natural variantiVAR_043015533K → T in NF2. 1 Publication1
Natural variantiVAR_000825535L → P in NF2; late onset. 3 PublicationsCorresponds to variant dbSNP:rs74315493EnsemblClinVar.1
Natural variantiVAR_000826538Q → P in NF2; mild. 1 PublicationCorresponds to variant dbSNP:rs74315494EnsemblClinVar.1
Natural variantiVAR_043016539L → H in NF2. 1 Publication1
Natural variantiVAR_043017579K → M in NF2. 1 Publication1
Schwannomatosis 1 (SWNTS1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA cancer syndrome in which patients develop multiple non-vestibular schwannomas, benign neoplasms that arise from Schwann cells of the cranial, peripheral, and autonomic nerves.
See also OMIM:162091
Mesothelioma, malignant (MESOM)1 Publication
The disease may be caused by mutations affecting the gene represented in this entry.
Disease descriptionAn aggressive neoplasm of the serosal lining of the chest. It appears as broad sheets of cells, with some regions containing spindle-shaped, sarcoma-like cells and other regions showing adenomatous patterns. Pleural mesotheliomas have been linked to exposure to asbestos.
See also OMIM:156240

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi64L → P: Abolishes binding to AGAP2 and interaction with the CUL4A-RBX1-DDB1-VprBP/DCAF1 E3 ubiquitin-protein ligase complex. 2 Publications1
Mutagenesisi518S → A: Loss of phosphorylation. Significant accumulation in the nucleus and no effect on binding to DCAF1. 1 Publication1
Mutagenesisi518S → D: No effect on phosphorylation. Defective nuclear accumulation. Significant decrease in binding to DCAF1 and in ability to inhibit cell proliferation. 1 Publication1

Keywords - Diseasei

Deafness, Disease mutation, Tumor suppressor

Organism-specific databases

DisGeNETi4771
GeneReviewsiNF2
MalaCardsiNF2
MIMi101000 phenotype
156240 phenotype
162091 phenotype
OpenTargetsiENSG00000186575
Orphaneti637 Neurofibromatosis type 2
93921 Neurofibromatosis type 3
PharmGKBiPA31580

Polymorphism and mutation databases

BioMutaiNF2
DMDMi462594

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002194121 – 595MerlinAdd BLAST595

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei13PhosphoserineCombined sources1
Modified residuei518Phosphoserine; by PAKCombined sources1

Post-translational modificationi

Phosphorylation of Ser-518 inhibits nuclear localization by disrupting the intramolecular association of the FERM domain with the C-terminal tail (PubMed:20178741). The dephosphorylation of Ser-518 favors the interaction with NOP53 (PubMed:21167305).2 Publications
Ubiquitinated by the CUL4A-RBX1-DDB1-DCAF1/VprBP E3 ubiquitin-protein ligase complex for ubiquitination and subsequent proteasome-dependent degradation.1 Publication

Keywords - PTMi

Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiP35240
MaxQBiP35240
PaxDbiP35240
PeptideAtlasiP35240
PRIDEiP35240
ProteomicsDBi54999
55000 [P35240-10]
55001 [P35240-2]
55002 [P35240-3]
55003 [P35240-4]
55004 [P35240-5]
55005 [P35240-6]
55006 [P35240-7]
55007 [P35240-8]
55008 [P35240-9]

PTM databases

CarbonylDBiP35240
iPTMnetiP35240
PhosphoSitePlusiP35240

Miscellaneous databases

PMAP-CutDBiP35240

Expressioni

Tissue specificityi

Widely expressed. Isoform 1 and isoform 3 are predominant. Isoform 4, isoform 5 and isoform 6 are expressed moderately. Isoform 8 is found at low frequency. Isoform 7, isoform 9 and isoform 10 are not expressed in adult tissues, with the exception of adult retina expressing isoform 10. Isoform 9 is faintly expressed in fetal brain, heart, lung, skeletal muscle and spleen. Fetal thymus expresses isoforms 1, 7, 9 and 10 at similar levels.

Gene expression databases

BgeeiENSG00000186575 Expressed in 219 organ(s), highest expression level in smooth muscle tissue
ExpressionAtlasiP35240 baseline and differential
GenevisibleiP35240 HS

Organism-specific databases

HPAiCAB005385
HPA003097

Interactioni

Subunit structurei

Interacts with SLC9A3R1, HGS and AGAP2. Interacts with LAYN (By similarity). Interacts with SGSM3. Interacts (via FERM domain) with MPP1. Interacts with WWC1. Interacts with the CUL4A-RBX1-DDB1-VprBP/DCAF1 E3 ubiquitin-protein ligase complex. The unphosphorylated form interacts (via FERM domain) with VPRBP/DCAF1. Interacts (via FERM domain) with NOP53; the interaction is direct (PubMed:21167305). Interacts with SCHIP1; the interaction is direct (PubMed:10669747).By similarity10 Publications

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi110844, 214 interactors
CORUMiP35240
DIPiDIP-35389N
ELMiP35240
IntActiP35240, 40 interactors
MINTiP35240
STRINGi9606.ENSP00000344666

Structurei

Secondary structure

1595
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP35240
SMRiP35240
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP35240

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini22 – 311FERMPROSITE-ProRule annotationAdd BLAST290

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi327 – 465Glu-richAdd BLAST139

Phylogenomic databases

eggNOGiKOG3529 Eukaryota
ENOG410XQFP LUCA
GeneTreeiENSGT00920000148976
HOVERGENiHBG002185
InParanoidiP35240
KOiK16684
OMAiACYAEHR
OrthoDBiEOG091G06UO
PhylomeDBiP35240
TreeFamiTF313935

Family and domain databases

CDDicd14473 FERM_B-lobe, 1 hit
Gene3Di1.20.80.10, 1 hit
1.25.40.1020, 1 hit
2.30.29.30, 1 hit
InterProiView protein in InterPro
IPR019749 Band_41_domain
IPR011174 ERM
IPR011259 ERM_C_dom
IPR000798 Ez/rad/moesin-like
IPR014352 FERM/acyl-CoA-bd_prot_sf
IPR035963 FERM_2
IPR019748 FERM_central
IPR019747 FERM_CS
IPR000299 FERM_domain
IPR018979 FERM_N
IPR018980 FERM_PH-like_C
IPR008954 Moesin_tail_sf
IPR011993 PH-like_dom_sf
IPR029071 Ubiquitin-like_domsf
PfamiView protein in Pfam
PF00769 ERM, 1 hit
PF09380 FERM_C, 1 hit
PF00373 FERM_M, 1 hit
PF09379 FERM_N, 1 hit
PIRSFiPIRSF002305 ERM, 1 hit
PRINTSiPR00935 BAND41
PR00661 ERMFAMILY
SMARTiView protein in SMART
SM00295 B41, 1 hit
SM01196 FERM_C, 1 hit
SUPFAMiSSF47031 SSF47031, 1 hit
SSF48678 SSF48678, 1 hit
SSF54236 SSF54236, 1 hit
PROSITEiView protein in PROSITE
PS00660 FERM_1, 1 hit
PS00661 FERM_2, 1 hit
PS50057 FERM_3, 1 hit

Sequences (10)i

Sequence statusi: Complete.

This entry describes 10 isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: P35240-1) [UniParc]FASTAAdd to basket
Also known as: I

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAGAIASRMS FSSLKRKQPK TFTVRIVTMD AEMEFNCEMK WKGKDLFDLV
60 70 80 90 100
CRTLGLRETW FFGLQYTIKD TVAWLKMDKK VLDHDVSKEE PVTFHFLAKF
110 120 130 140 150
YPENAEEELV QEITQHLFFL QVKKQILDEK IYCPPEASVL LASYAVQAKY
160 170 180 190 200
GDYDPSVHKR GFLAQEELLP KRVINLYQMT PEMWEERITA WYAEHRGRAR
210 220 230 240 250
DEAEMEYLKI AQDLEMYGVN YFAIRNKKGT ELLLGVDALG LHIYDPENRL
260 270 280 290 300
TPKISFPWNE IRNISYSDKE FTIKPLDKKI DVFKFNSSKL RVNKLILQLC
310 320 330 340 350
IGNHDLFMRR RKADSLEVQQ MKAQAREEKA RKQMERQRLA REKQMREEAE
360 370 380 390 400
RTRDELERRL LQMKEEATMA NEALMRSEET ADLLAEKAQI TEEEAKLLAQ
410 420 430 440 450
KAAEAEQEMQ RIKATAIRTE EEKRLMEQKV LEAEVLALKM AEESERRAKE
460 470 480 490 500
ADQLKQDLQE AREAERRAKQ KLLEIATKPT YPPMNPIPAP LPPDIPSFNL
510 520 530 540 550
IGDSLSFDFK DTDMKRLSME IEKEKVEYME KSKHLQEQLN ELKTEIEALK
560 570 580 590
LKERETALDI LHNENSDRGG SSKHNTIKKL TLQSAKSRVA FFEEL
Length:595
Mass (Da):69,690
Last modified:February 1, 1994 - v1
Checksum:iB1A1BF2BD5DA561C
GO
Isoform 2 (identifier: P35240-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     580-595: LTLQSAKSRVAFFEEL → SSPRQKTYLHLSPQSRLFPGTLYVVMLYVVMVLPSVILTRA

Show »
Length:620
Mass (Da):72,514
Checksum:i6A462A3A113A6C28
GO
Isoform 3 (identifier: P35240-3) [UniParc]FASTAAdd to basket
Also known as: II

The sequence of this isoform differs from the canonical sequence as follows:
     580-590: LTLQSAKSRVA → PQAQGRRPICI
     591-595: Missing.

Show »
Length:590
Mass (Da):69,090
Checksum:i99B732B48367D22A
GO
Isoform 4 (identifier: P35240-4) [UniParc]FASTAAdd to basket
Also known as: delE2/3

The sequence of this isoform differs from the canonical sequence as follows:
     39-121: Missing.
     580-590: LTLQSAKSRVA → PQAQGRRPICI
     591-595: Missing.

Show »
Length:507
Mass (Da):59,096
Checksum:iDD8162ABBC9EA4CA
GO
Isoform 5 (identifier: P35240-5) [UniParc]FASTAAdd to basket
Also known as: delE3

The sequence of this isoform differs from the canonical sequence as follows:
     81-121: Missing.
     580-590: LTLQSAKSRVA → PQAQGRRPICI
     591-595: Missing.

Show »
Length:549
Mass (Da):64,189
Checksum:i905559E6F72D3F4C
GO
Isoform 6 (identifier: P35240-6) [UniParc]FASTAAdd to basket
Also known as: delE2

The sequence of this isoform differs from the canonical sequence as follows:
     39-80: Missing.
     580-590: LTLQSAKSRVA → PQAQGRRPICI
     591-595: Missing.

Show »
Length:548
Mass (Da):63,996
Checksum:i58E15B35515C10EE
GO
Isoform 7 (identifier: P35240-7) [UniParc]FASTAAdd to basket
Also known as: MER150

The sequence of this isoform differs from the canonical sequence as follows:
     259-259: N → R
     260-595: Missing.

Show »
Length:259
Mass (Da):30,454
Checksum:i3C7B9CDBC884CDF6
GO
Isoform 8 (identifier: P35240-8) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     335-363: Missing.
     580-590: LTLQSAKSRVA → PQAQGRRPICI
     591-595: Missing.

Show »
Length:561
Mass (Da):65,350
Checksum:i371C417ABDB68D02
GO
Isoform 9 (identifier: P35240-9) [UniParc]FASTAAdd to basket
Also known as: MER162

The sequence of this isoform differs from the canonical sequence as follows:
     150-579: Missing.

Show »
Length:165
Mass (Da):19,215
Checksum:i01B92CD1AFEEB202
GO
Isoform 10 (identifier: P35240-10) [UniParc]FASTAAdd to basket
Also known as: MER151

The sequence of this isoform differs from the canonical sequence as follows:
     39-121: Missing.
     150-225: Missing.
     334-379: MERQRLAREK...ANEALMRSEE → GQRGRSAEAG...HEPNSSTVAS
     380-595: Missing.

Show »
Length:220
Mass (Da):24,515
Checksum:i05961D105F94276E
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti77M → I in AAH20257 (PubMed:15489334).Curated1
Sequence conflicti581T → P in AAK54160 (PubMed:11827459).Curated1
Sequence conflicti581T → P in AAK54162 (PubMed:11827459).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00080946L → R in vestibular schwannoma; loss of ability to interact with the CUL4A-RBX1-DDB1-VprBP/DCAF1 E3 ubiquitin-protein ligase complex. 2 Publications1
Natural variantiVAR_00081062F → S in NF2; loss of ability to interact with the CUL4A-RBX1-DDB1-VprBP/DCAF1 E3 ubiquitin-protein ligase complex. 4 PublicationsCorresponds to variant dbSNP:rs121434261EnsemblClinVar.1
Natural variantiVAR_04301177M → V in NF2. 1 Publication1
Natural variantiVAR_00081179K → E in vestibular schwannoma. 1 Publication1
Natural variantiVAR_00081296Missing in NF2; also found in sporadic meningioma. 2 Publications1
Natural variantiVAR_000813106E → G in NF2. 2 Publications1
Natural variantiVAR_000814117L → I in sporadic meningioma. 1 Publication1
Natural variantiVAR_000815119Missing in sporadic meningioma; no effect on interaction with SCHIP1. 3 Publications1
Natural variantiVAR_000816122 – 129Missing in sporadic meningioma. 1 Publication8
Natural variantiVAR_065227133C → R in NF2. 1 Publication1
Natural variantiVAR_043012141L → P in NF2; loss of ability to interact with the CUL4A-RBX1-DDB1-VprBP/DCAF1 E3 ubiquitin-protein ligase complex. 2 Publications1
Natural variantiVAR_043013197G → C in NF2. 1 Publication1
Natural variantiVAR_000817219V → M in vestibular schwannoma; changed interaction with SCHIP1. 2 Publications1
Natural variantiVAR_000818220N → Y in NF2. 1 Publication1
Natural variantiVAR_009123234L → R in NF2; also found in retinal hamartoma; severe. 1 Publication1
Natural variantiVAR_000819273I → F in breast ductal carcinoma. 1 Publication1
Natural variantiVAR_000820339L → F in sporadic meningioma. 1 Publication1
Natural variantiVAR_029041351R → H1 PublicationCorresponds to variant dbSNP:rs771675702EnsemblClinVar.1
Natural variantiVAR_000821352T → M in NF2. 2 PublicationsCorresponds to variant dbSNP:rs764441073Ensembl.1
Natural variantiVAR_000822360L → P in NF2. Corresponds to variant dbSNP:rs74315492EnsemblClinVar.1
Natural variantiVAR_000823364K → I in melanoma. 1 Publication1
Natural variantiVAR_043014413K → E in NF2. 2 PublicationsCorresponds to variant dbSNP:rs766974263Ensembl.1
Natural variantiVAR_000824418R → C in vestibular schwannoma. 1 PublicationCorresponds to variant dbSNP:rs765540111Ensembl.1
Natural variantiVAR_035848463E → K in a breast cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs74315503EnsemblClinVar.1
Natural variantiVAR_043015533K → T in NF2. 1 Publication1
Natural variantiVAR_000825535L → P in NF2; late onset. 3 PublicationsCorresponds to variant dbSNP:rs74315493EnsemblClinVar.1
Natural variantiVAR_000826538Q → P in NF2; mild. 1 PublicationCorresponds to variant dbSNP:rs74315494EnsemblClinVar.1
Natural variantiVAR_043016539L → H in NF2. 1 Publication1
Natural variantiVAR_043017579K → M in NF2. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_00704139 – 121Missing in isoform 4 and isoform 10. 3 PublicationsAdd BLAST83
Alternative sequenceiVSP_00704039 – 80Missing in isoform 6. 1 PublicationAdd BLAST42
Alternative sequenceiVSP_00704281 – 121Missing in isoform 5. 1 PublicationAdd BLAST41
Alternative sequenceiVSP_007044150 – 579Missing in isoform 9. 1 PublicationAdd BLAST430
Alternative sequenceiVSP_007043150 – 225Missing in isoform 10. 1 PublicationAdd BLAST76
Alternative sequenceiVSP_007045259N → R in isoform 7. 1 Publication1
Alternative sequenceiVSP_007046260 – 595Missing in isoform 7. 1 PublicationAdd BLAST336
Alternative sequenceiVSP_007047334 – 379MERQR…MRSEE → GQRGRSAEAGPAGSTRGGAK SQAEAPGDCHQAHVPAHEPN SSTVAS in isoform 10. 1 PublicationAdd BLAST46
Alternative sequenceiVSP_007048335 – 363Missing in isoform 8. 1 PublicationAdd BLAST29
Alternative sequenceiVSP_007049380 – 595Missing in isoform 10. 1 PublicationAdd BLAST216
Alternative sequenceiVSP_000492580 – 595LTLQS…FFEEL → SSPRQKTYLHLSPQSRLFPG TLYVVMLYVVMVLPSVILTR A in isoform 2. CuratedAdd BLAST16
Alternative sequenceiVSP_007050580 – 590LTLQSAKSRVA → PQAQGRRPICI in isoform 3, isoform 4, isoform 5, isoform 6 and isoform 8. 2 PublicationsAdd BLAST11
Alternative sequenceiVSP_007051591 – 595Missing in isoform 3, isoform 4, isoform 5, isoform 6 and isoform 8. 2 Publications5

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L11353 mRNA Translation: AAA36212.1
X72655
, X72656, X72657, X72658, X72659, X72660, X72661, X72662, X72663, X72664, X72665, X72666, X72667, X72668, X72669, X72670 Genomic DNA Translation: CAA51220.1
Z22664 mRNA Translation: CAA80377.1
Y18000 Genomic DNA Translation: CAA76992.1
Y18000 Genomic DNA Translation: CAA76993.1
AF122827 mRNA Translation: AAD48752.1
AF122828 mRNA Translation: AAD48753.1
AF123570 mRNA Translation: AAD48754.1
AF369657 mRNA Translation: AAK54160.1
AF369658 mRNA Translation: AAK54161.1
AF369661 mRNA Translation: AAK54162.1
AF369662 mRNA Translation: AAK54163.1
AF369663 mRNA Translation: AAK54164.1
AF369664 mRNA Translation: AAK54165.1
AF369665 mRNA Translation: AAK54166.1
AF369700 mRNA Translation: AAK54195.1
AF369701 mRNA Translation: AAK54196.1
CR456530 mRNA Translation: CAG30416.1
BC003112 mRNA Translation: AAH03112.2
BC020257 mRNA Translation: AAH20257.1
CCDSiCCDS13861.1 [P35240-1]
CCDS13862.1 [P35240-3]
CCDS13863.1 [P35240-6]
CCDS13864.1 [P35240-5]
CCDS13865.1 [P35240-4]
CCDS54516.1 [P35240-9]
PIRiS33809
RefSeqiNP_000259.1, NM_000268.3 [P35240-1]
NP_057502.2, NM_016418.5 [P35240-3]
NP_861546.1, NM_181825.2 [P35240-3]
NP_861966.1, NM_181828.2 [P35240-6]
NP_861967.1, NM_181829.2 [P35240-5]
NP_861968.1, NM_181830.2 [P35240-4]
NP_861969.1, NM_181831.2 [P35240-4]
NP_861970.1, NM_181832.2 [P35240-3]
NP_861971.1, NM_181833.2 [P35240-9]
UniGeneiHs.187898

Genome annotation databases

EnsembliENST00000334961; ENSP00000335652; ENSG00000186575 [P35240-4]
ENST00000338641; ENSP00000344666; ENSG00000186575 [P35240-1]
ENST00000353887; ENSP00000340626; ENSG00000186575 [P35240-4]
ENST00000361166; ENSP00000354529; ENSG00000186575 [P35240-3]
ENST00000361452; ENSP00000354897; ENSG00000186575 [P35240-5]
ENST00000361676; ENSP00000355183; ENSG00000186575 [P35240-6]
ENST00000397789; ENSP00000380891; ENSG00000186575 [P35240-3]
ENST00000403435; ENSP00000384029; ENSG00000186575 [P35240-8]
ENST00000403999; ENSP00000384797; ENSG00000186575 [P35240-3]
ENST00000413209; ENSP00000409921; ENSG00000186575 [P35240-9]
ENST00000432151; ENSP00000395885; ENSG00000186575 [P35240-10]
GeneIDi4771
KEGGihsa:4771
UCSCiuc003afy.5 human [P35240-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L11353 mRNA Translation: AAA36212.1
X72655
, X72656, X72657, X72658, X72659, X72660, X72661, X72662, X72663, X72664, X72665, X72666, X72667, X72668, X72669, X72670 Genomic DNA Translation: CAA51220.1
Z22664 mRNA Translation: CAA80377.1
Y18000 Genomic DNA Translation: CAA76992.1
Y18000 Genomic DNA Translation: CAA76993.1
AF122827 mRNA Translation: AAD48752.1
AF122828 mRNA Translation: AAD48753.1
AF123570 mRNA Translation: AAD48754.1
AF369657 mRNA Translation: AAK54160.1
AF369658 mRNA Translation: AAK54161.1
AF369661 mRNA Translation: AAK54162.1
AF369662 mRNA Translation: AAK54163.1
AF369663 mRNA Translation: AAK54164.1
AF369664 mRNA Translation: AAK54165.1
AF369665 mRNA Translation: AAK54166.1
AF369700 mRNA Translation: AAK54195.1
AF369701 mRNA Translation: AAK54196.1
CR456530 mRNA Translation: CAG30416.1
BC003112 mRNA Translation: AAH03112.2
BC020257 mRNA Translation: AAH20257.1
CCDSiCCDS13861.1 [P35240-1]
CCDS13862.1 [P35240-3]
CCDS13863.1 [P35240-6]
CCDS13864.1 [P35240-5]
CCDS13865.1 [P35240-4]
CCDS54516.1 [P35240-9]
PIRiS33809
RefSeqiNP_000259.1, NM_000268.3 [P35240-1]
NP_057502.2, NM_016418.5 [P35240-3]
NP_861546.1, NM_181825.2 [P35240-3]
NP_861966.1, NM_181828.2 [P35240-6]
NP_861967.1, NM_181829.2 [P35240-5]
NP_861968.1, NM_181830.2 [P35240-4]
NP_861969.1, NM_181831.2 [P35240-4]
NP_861970.1, NM_181832.2 [P35240-3]
NP_861971.1, NM_181833.2 [P35240-9]
UniGeneiHs.187898

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1H4RX-ray1.80A/B1-313[»]
3U8ZX-ray2.64A/B/C/D18-312[»]
4ZRIX-ray2.70A/B1-320[»]
4ZRJX-ray2.30A1-320[»]
B506-595[»]
6CDSX-ray2.62A/B1-339[»]
ProteinModelPortaliP35240
SMRiP35240
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110844, 214 interactors
CORUMiP35240
DIPiDIP-35389N
ELMiP35240
IntActiP35240, 40 interactors
MINTiP35240
STRINGi9606.ENSP00000344666

PTM databases

CarbonylDBiP35240
iPTMnetiP35240
PhosphoSitePlusiP35240

Polymorphism and mutation databases

BioMutaiNF2
DMDMi462594

Proteomic databases

EPDiP35240
MaxQBiP35240
PaxDbiP35240
PeptideAtlasiP35240
PRIDEiP35240
ProteomicsDBi54999
55000 [P35240-10]
55001 [P35240-2]
55002 [P35240-3]
55003 [P35240-4]
55004 [P35240-5]
55005 [P35240-6]
55006 [P35240-7]
55007 [P35240-8]
55008 [P35240-9]

Protocols and materials databases

DNASUi4771
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000334961; ENSP00000335652; ENSG00000186575 [P35240-4]
ENST00000338641; ENSP00000344666; ENSG00000186575 [P35240-1]
ENST00000353887; ENSP00000340626; ENSG00000186575 [P35240-4]
ENST00000361166; ENSP00000354529; ENSG00000186575 [P35240-3]
ENST00000361452; ENSP00000354897; ENSG00000186575 [P35240-5]
ENST00000361676; ENSP00000355183; ENSG00000186575 [P35240-6]
ENST00000397789; ENSP00000380891; ENSG00000186575 [P35240-3]
ENST00000403435; ENSP00000384029; ENSG00000186575 [P35240-8]
ENST00000403999; ENSP00000384797; ENSG00000186575 [P35240-3]
ENST00000413209; ENSP00000409921; ENSG00000186575 [P35240-9]
ENST00000432151; ENSP00000395885; ENSG00000186575 [P35240-10]
GeneIDi4771
KEGGihsa:4771
UCSCiuc003afy.5 human [P35240-1]

Organism-specific databases

CTDi4771
DisGeNETi4771
EuPathDBiHostDB:ENSG00000186575.17
GeneCardsiNF2
GeneReviewsiNF2
HGNCiHGNC:7773 NF2
HPAiCAB005385
HPA003097
MalaCardsiNF2
MIMi101000 phenotype
156240 phenotype
162091 phenotype
607379 gene
neXtProtiNX_P35240
OpenTargetsiENSG00000186575
Orphaneti637 Neurofibromatosis type 2
93921 Neurofibromatosis type 3
PharmGKBiPA31580
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3529 Eukaryota
ENOG410XQFP LUCA
GeneTreeiENSGT00920000148976
HOVERGENiHBG002185
InParanoidiP35240
KOiK16684
OMAiACYAEHR
OrthoDBiEOG091G06UO
PhylomeDBiP35240
TreeFamiTF313935

Enzyme and pathway databases

ReactomeiR-HSA-2029482 Regulation of actin dynamics for phagocytic cup formation
R-HSA-5627123 RHO GTPases activate PAKs
SignaLinkiP35240
SIGNORiP35240

Miscellaneous databases

ChiTaRSiNF2 human
EvolutionaryTraceiP35240
GeneWikiiMerlin_(protein)
GenomeRNAii4771
PMAP-CutDBiP35240
PROiPR:P35240
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000186575 Expressed in 219 organ(s), highest expression level in smooth muscle tissue
ExpressionAtlasiP35240 baseline and differential
GenevisibleiP35240 HS

Family and domain databases

CDDicd14473 FERM_B-lobe, 1 hit
Gene3Di1.20.80.10, 1 hit
1.25.40.1020, 1 hit
2.30.29.30, 1 hit
InterProiView protein in InterPro
IPR019749 Band_41_domain
IPR011174 ERM
IPR011259 ERM_C_dom
IPR000798 Ez/rad/moesin-like
IPR014352 FERM/acyl-CoA-bd_prot_sf
IPR035963 FERM_2
IPR019748 FERM_central
IPR019747 FERM_CS
IPR000299 FERM_domain
IPR018979 FERM_N
IPR018980 FERM_PH-like_C
IPR008954 Moesin_tail_sf
IPR011993 PH-like_dom_sf
IPR029071 Ubiquitin-like_domsf
PfamiView protein in Pfam
PF00769 ERM, 1 hit
PF09380 FERM_C, 1 hit
PF00373 FERM_M, 1 hit
PF09379 FERM_N, 1 hit
PIRSFiPIRSF002305 ERM, 1 hit
PRINTSiPR00935 BAND41
PR00661 ERMFAMILY
SMARTiView protein in SMART
SM00295 B41, 1 hit
SM01196 FERM_C, 1 hit
SUPFAMiSSF47031 SSF47031, 1 hit
SSF48678 SSF48678, 1 hit
SSF54236 SSF54236, 1 hit
PROSITEiView protein in PROSITE
PS00660 FERM_1, 1 hit
PS00661 FERM_2, 1 hit
PS50057 FERM_3, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiMERL_HUMAN
AccessioniPrimary (citable) accession number: P35240
Secondary accession number(s): O95683
, Q8WUJ2, Q969N0, Q969Q3, Q96T30, Q96T31, Q96T32, Q96T33, Q9BTW3, Q9UNG9, Q9UNH3, Q9UNH4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1994
Last sequence update: February 1, 1994
Last modified: November 7, 2018
This is version 216 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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