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Protein

Neurobeachin-like protein 2

Gene

NBEAL2

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

Functioni

Probably involved in thrombopoiesis. Plays a role in the development or secretion of alpha-granules, that contain several growth factors important for platelet biogenesis.2 Publications

GO - Biological processi

  • neutrophil degranulation Source: Reactome
  • platelet formation Source: UniProtKB

Enzyme and pathway databases

ReactomeiR-HSA-6798695 Neutrophil degranulation
SignaLinkiQ6ZNJ1

Names & Taxonomyi

Protein namesi
Recommended name:
Neurobeachin-like protein 2
Gene namesi
Name:NBEAL2
Synonyms:KIAA0540
ORF Names:UNQ253/PRO290
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000160796.16
HGNCiHGNC:31928 NBEAL2
MIMi614169 gene
neXtProtiNX_Q6ZNJ1

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

Endoplasmic reticulum

Pathology & Biotechi

Involvement in diseasei

Gray platelet syndrome (GPS)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare platelet disorder characterized by a selective deficiency in the number and contents of platelet alpha-granules. It is associated with mild to moderate bleeding tendency and moderate thrombocytopenia. The platelets are enlarged and have a gray appearance on light microscopy of Wright-stained peripheral blood smears due to decreased granules.
See also OMIM:139090
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_066976388L → P in GPS. 2 PublicationsCorresponds to variant dbSNP:rs387907113EnsemblClinVar.1
Natural variantiVAR_066977643E → V in GPS. 1 PublicationCorresponds to variant dbSNP:rs387907114EnsemblClinVar.1
Natural variantiVAR_066978677W → R in GPS. 1 Publication1
Natural variantiVAR_0669801833E → K in GPS. 1 PublicationCorresponds to variant dbSNP:rs1341020147Ensembl.1
Natural variantiVAR_0669811839R → C in GPS. 1 PublicationCorresponds to variant dbSNP:rs750160418Ensembl.1
Natural variantiVAR_0669822100P → L in GPS. 1 PublicationCorresponds to variant dbSNP:rs387907115EnsemblClinVar.1
Natural variantiVAR_0669832263H → Y in GPS. 1 PublicationCorresponds to variant dbSNP:rs1357067113Ensembl.1
Natural variantiVAR_0669842269S → L in GPS. 1 PublicationCorresponds to variant dbSNP:rs749896920Ensembl.1

Organism-specific databases

DisGeNETi23218
MalaCardsiNBEAL2
MIMi139090 phenotype
OpenTargetsiENSG00000160796
Orphaneti721 Gray platelet syndrome
PharmGKBiPA128394612

Polymorphism and mutation databases

BioMutaiNBEAL2
DMDMi189030821

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003332541 – 2754Neurobeachin-like protein 2Add BLAST2754

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1647PhosphoserineCombined sources1
Modified residuei1867PhosphothreonineCombined sources1
Modified residuei2739PhosphoserineCombined sources1
Modified residuei2742PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ6ZNJ1
MaxQBiQ6ZNJ1
PaxDbiQ6ZNJ1
PeptideAtlasiQ6ZNJ1
PRIDEiQ6ZNJ1
ProteomicsDBi68028
68029 [Q6ZNJ1-2]
68030 [Q6ZNJ1-3]

PTM databases

iPTMnetiQ6ZNJ1
PhosphoSitePlusiQ6ZNJ1

Expressioni

Tissue specificityi

Expressed in megakaryocytes.1 Publication

Gene expression databases

BgeeiENSG00000160796 Expressed in 177 organ(s), highest expression level in blood
CleanExiHS_NBEAL2
ExpressionAtlasiQ6ZNJ1 baseline and differential
GenevisibleiQ6ZNJ1 HS

Organism-specific databases

HPAiHPA051969

Interactioni

Binary interactionsi

Protein-protein interaction databases

BioGridi116825, 6 interactors
IntActiQ6ZNJ1, 134 interactors
STRINGi9606.ENSP00000415034

Structurei

3D structure databases

ProteinModelPortaliQ6ZNJ1
SMRiQ6ZNJ1
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini1915 – 2040BEACH-type PHPROSITE-ProRule annotationAdd BLAST126
Domaini2053 – 2345BEACHPROSITE-ProRule annotationAdd BLAST293
Repeati2386 – 2424WD 1Add BLAST39
Repeati2448 – 2491WD 2Add BLAST44
Repeati2494 – 2531WD 3Add BLAST38
Repeati2544 – 2582WD 4Add BLAST39
Repeati2589 – 2631WD 5Add BLAST43
Repeati2639 – 2674WD 6Add BLAST36
Repeati2682 – 2717WD 7Add BLAST36

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi1133 – 1267Leu-richAdd BLAST135
Compositional biasi1302 – 1342Pro-richAdd BLAST41

Sequence similaritiesi

Belongs to the WD repeat neurobeachin family.Curated

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

eggNOGiKOG1787 Eukaryota
ENOG410XNQC LUCA
GeneTreeiENSGT00760000119083
HOGENOMiHOG000007936
HOVERGENiHBG108176
InParanoidiQ6ZNJ1
OMAiHPVNQES
OrthoDBiEOG091G031Z
PhylomeDBiQ6ZNJ1
TreeFamiTF323165

Family and domain databases

CDDicd06071 Beach, 1 hit
cd01201 PH_BEACH, 1 hit
Gene3Di1.10.1540.10, 1 hit
InterProiView protein in InterPro
IPR016024 ARM-type_fold
IPR000409 BEACH_dom
IPR036372 BEACH_dom_sf
IPR013320 ConA-like_dom_sf
IPR031570 DUF4704
IPR026916 NBEAL2
IPR023362 PH-BEACH_dom
IPR001680 WD40_repeat
IPR017986 WD40_repeat_dom
IPR036322 WD40_repeat_dom_sf
PANTHERiPTHR13743:SF111 PTHR13743:SF111, 1 hit
PfamiView protein in Pfam
PF02138 Beach, 1 hit
PF15787 DUF4704, 1 hit
PF14844 PH_BEACH, 1 hit
PF00400 WD40, 2 hits
SMARTiView protein in SMART
SM01026 Beach, 1 hit
SM00320 WD40, 3 hits
SUPFAMiSSF48371 SSF48371, 1 hit
SSF49899 SSF49899, 1 hit
SSF50978 SSF50978, 1 hit
SSF81837 SSF81837, 1 hit
PROSITEiView protein in PROSITE
PS50197 BEACH, 1 hit
PS51783 PH_BEACH, 1 hit
PS50082 WD_REPEATS_2, 2 hits
PS50294 WD_REPEATS_REGION, 1 hit

Sequences (3+)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q6ZNJ1-1) [UniParc]FASTAAdd to basket

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
MAASERLYEL WLLYYAQKDL GYLQQWLKAF VGAFKKSISL SSLEPRRPEE
60 70 80 90 100
AGAEVPLLPL DELHVLAEQL HQADLEQALL LLKLFIILCR NLENIEAGRG
110 120 130 140 150
QVLVPRVLAL LTKLVAELKG CPPPQGRGTQ LENVALHALL LCEGLFDPYQ
160 170 180 190 200
TWRRQRSGEV ISSKEKSKYK FPPAALPQEF SAFFQESLQN ADHLPPILLL
210 220 230 240 250
RLIHLFCAVL AGGKENGQMA VSDGSVKGLL SVVRGWSRGP APDPCLVPLA
260 270 280 290 300
LEALVGAVHV LHASRAPPRG PELRALLESY FHVLNADWPA GLSSGPEEAL
310 320 330 340 350
VTLRVSMLDA IPMMLACEDR PVLQATFLSN NCFEHLTRLI QNSKLYLQSR
360 370 380 390 400
APPEGDSDLA TRLLTEPDVQ KVLDQDTDAI AVHVVRVLTC IMSDSPSAKE
410 420 430 440 450
VFKERIGYPH LQEVLQSHGP PTHRLLQELL NMAVEGDHSM CPPPPIRNEQ
460 470 480 490 500
PVLVLAQWLP SLPTAELRLF LAQRLRWLCD SCPASRATCV QAGLVGCLLE
510 520 530 540 550
TLSTGLALEA RCQEQLLALL QALGRVSIRP MELRHLLRPR PGLDSEPGGA
560 570 580 590 600
EAGKARHAGA VIRTLSGMAR HQGPARALRY FDLTPSMAGI MVPPVQRWPG
610 620 630 640 650
PGFTFHAWLC LHPMDTAPTP APTRPLQRKQ LYSFFTSSGS GFEAFFTAAG
660 670 680 690 700
TLVVAVCTRK EYLTMSLPEV SFADSAWHCV AIVHVPGRRP FSQNLVHVYK
710 720 730 740 750
DGHLVKTAPL RCPSLSEPFS SCCIGSAGYR TTTTTTGLPT PPVPATLAYT
760 770 780 790 800
HPALTRSQSV PASTGLGWGS GLVAPLQEGS IDSTLAGTQD TRWGSPTSLE
810 820 830 840 850
GELGAVAIFH EALQATALRT LCTLGPNETA PFKPEGELHE LSTRLLLHYS
860 870 880 890 900
PQACKNNICL DLSPSHGLDG RLTGHRVETW DVKDVVNCVG GMGALLPLLE
910 920 930 940 950
RVAAQPKEAE AGPAETHDLV GPELTSGHNT QGLVLPLGKS SEERMERNAV
960 970 980 990 1000
AAFLLMLRNF LQGHMVNQES LVQCQGPAII GALLRKVPSW AMDMNVLMSA
1010 1020 1030 1040 1050
QLLMEQVAAE GSGPLLYLLY QHLLFNFHLW TLSDFAVRLG HIQYMSSIVR
1060 1070 1080 1090 1100
EHRQKLRKKY GVQFILDALR THYSPQRERP LAADDLRTVQ TSLLGLAREF
1110 1120 1130 1140 1150
LVRSLSADDV QVTQTMLSFL AATGDDGQAV GALDLLLALL HGSLVQESLA
1160 1170 1180 1190 1200
VFLLEPGNLE VLLALLVRPG SLPLLPDRVC KILRRLQQNE RLPERSRQRL
1210 1220 1230 1240 1250
RLRECGLQGL VACLPEGTVS PQLCQGLYKL FLGADCLNLS DLLAVVQLSL
1260 1270 1280 1290 1300
QADLSVRLDI CRQLFHLIYG QPDVVRLLAR QAGWQDVLTR LYVLEAATAG
1310 1320 1330 1340 1350
SPPPSSPESP TSPKPAPPKP PTESPAEPSD VFLPSEAPCP DPDGFYHALS
1360 1370 1380 1390 1400
PFCTPFDLGL ERSSVGSGNT AGGGGSSGTL TPASQPGTPS PLDGPRPFPA
1410 1420 1430 1440 1450
APGRHSSSLS NVLEDGSLPE PTISGDDTSN TSNPQQTSEE ELCNLLTNVL
1460 1470 1480 1490 1500
FSVTWRGVEG SDEAAWRERG QVFSVLTQLG ASATLVRPPD CIKRSLLEMM
1510 1520 1530 1540 1550
LESALTDIKE APVGVLASLT QQALWLLRLL QDFLCAEGHG NQELWSEKLF
1560 1570 1580 1590 1600
EGVCSLLDRL GAWPHLANGT ADLREMAQIG LRLVLGYILL EDPQLHAQAY
1610 1620 1630 1640 1650
VRLHMLLQTA VPARREEACY VLSKLEAALG RVLNTSSLES ATDEAGSPLA
1660 1670 1680 1690 1700
AAAAAAAAER CSWLVPLVRT LLDRAYEPLG LQWGLPSLPP TNGSPTFFED
1710 1720 1730 1740 1750
FQAFCATPEW RHFIDKQVQP TMSQFEMDTY AKSHDLMSGF WNACYDMLMS
1760 1770 1780 1790 1800
SGQRRQWERA QSRRAFQELV LEPAQRRARL EGLRYTAVLK QQATQHSMAL
1810 1820 1830 1840 1850
LHWGALWRQL ASPCGAWALR DTPIPRWKLS SAETYSRMRL KLVPNHHFDP
1860 1870 1880 1890 1900
HLEASALRDN LGEVPLTPTE EASLPLAVTK EAKVSTPPEL LQEDQLGEDE
1910 1920 1930 1940 1950
LAELETPMEA AELDEQREKL VLSAECQLVT VVAVVPGLLE VTTQNVYFYD
1960 1970 1980 1990 2000
GSTERVETEE GIGYDFRRPL AQLREVHLRR FNLRRSALEL FFIDQANYFL
2010 2020 2030 2040 2050
NFPCKVGTTP VSSPSQTPRP QPGPIPPHTQ VRNQVYSWLL RLRPPSQGYL
2060 2070 2080 2090 2100
SSRSPQEMLR ASGLTQKWVQ REISNFEYLM QLNTIAGRTY NDLSQYPVFP
2110 2120 2130 2140 2150
WVLQDYVSPT LDLSNPAVFR DLSKPIGVVN PKHAQLVREK YESFEDPAGT
2160 2170 2180 2190 2200
IDKFHYGTHY SNAAGVMHYL IRVEPFTSLH VQLQSGRFDC SDRQFHSVAA
2210 2220 2230 2240 2250
AWQARLESPA DVKELIPEFF YFPDFLENQN GFDLGCLQLT NEKVGDVVLP
2260 2270 2280 2290 2300
PWASSPEDFI QQHRQALESE YVSAHLHEWI DLIFGYKQRG PAAEEALNVF
2310 2320 2330 2340 2350
YYCTYEGAVD LDHVTDERER KALEGIISNF GQTPCQLLKE PHPTRLSAEE
2360 2370 2380 2390 2400
AAHRLARLDT NSPSIFQHLD ELKAFFAEVV SDGVPLVLAL VPHRQPHSFI
2410 2420 2430 2440 2450
TQGSPDLLVT VSASGLLGTH SWLPYDRNIS NYFSFSKDPT MGSHKTQRLL
2460 2470 2480 2490 2500
SGPWVPGSGV SGQALAVAPD GKLLFSGGHW DGSLRVTALP RGKLLSQLSC
2510 2520 2530 2540 2550
HLDVVTCLAL DTCGIYLISG SRDTTCMVWR LLHQGGLSVG LAPKPVQVLY
2560 2570 2580 2590 2600
GHGAAVSCVA ISTELDMAVS GSEDGTVIIH TVRRGQFVAA LRPLGATFPG
2610 2620 2630 2640 2650
PIFHLALGSE GQIVVQSSAW ERPGAQVTYS LHLYSVNGKL RASLPLAEQP
2660 2670 2680 2690 2700
TALTVTEDFV LLGTAQCALH ILQLNTLLPA APPLPMKVAI RSVAVTKERS
2710 2720 2730 2740 2750
HVLVGLEDGK LIVVVAGQPS EVRSSQFARK LWRSSRRISQ VSSGETEYNP

TEAR
Length:2,754
Mass (Da):302,517
Last modified:May 20, 2008 - v2
Checksum:iD3DA8DBDF9BB11CC
GO
Isoform 2 (identifier: Q6ZNJ1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1129-1181: Missing.
     1235-1365: Missing.

Show »
Length:2,570
Mass (Da):282,861
Checksum:iD0E939B3A3A6089F
GO
Isoform 3 (identifier: Q6ZNJ1-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     2379-2408: Missing.

Note: No experimental confirmation available.
Show »
Length:2,724
Mass (Da):299,342
Checksum:i0A81885371102A7C
GO

Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0Y764H0Y764_HUMAN
Neurobeachin-like protein 2
NBEAL2
2,042Annotation score:
H7C3Y7H7C3Y7_HUMAN
Neurobeachin-like protein 2
NBEAL2
1,093Annotation score:
H7C408H7C408_HUMAN
Neurobeachin-like protein 2
NBEAL2
255Annotation score:
H7C354H7C354_HUMAN
Neurobeachin-like protein 2
NBEAL2
107Annotation score:

Sequence cautioni

The sequence BAC03994 differs from that shown. Aberrant splicing.Curated
The sequence BAC85154 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti79L → P in BAC03994 (PubMed:14702039).Curated1
Sequence conflicti1845N → K in AAH60874 (PubMed:15489334).Curated1
Sequence conflicti2161S → P in AAH60874 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06697586I → V in a patient with gray platelet syndrome. 1 PublicationCorresponds to variant dbSNP:rs754407148Ensembl.1
Natural variantiVAR_066976388L → P in GPS. 2 PublicationsCorresponds to variant dbSNP:rs387907113EnsemblClinVar.1
Natural variantiVAR_043133447R → H. Corresponds to variant dbSNP:rs17079425EnsemblClinVar.1
Natural variantiVAR_043134511R → G. Corresponds to variant dbSNP:rs11720139EnsemblClinVar.1
Natural variantiVAR_066977643E → V in GPS. 1 PublicationCorresponds to variant dbSNP:rs387907114EnsemblClinVar.1
Natural variantiVAR_066978677W → R in GPS. 1 Publication1
Natural variantiVAR_066979682I → F in a patient with gray platelet syndrome. 1 PublicationCorresponds to variant dbSNP:rs773164015Ensembl.1
Natural variantiVAR_0669801833E → K in GPS. 1 PublicationCorresponds to variant dbSNP:rs1341020147Ensembl.1
Natural variantiVAR_0669811839R → C in GPS. 1 PublicationCorresponds to variant dbSNP:rs750160418Ensembl.1
Natural variantiVAR_0431351877A → G. Corresponds to variant dbSNP:rs4682830Ensembl.1
Natural variantiVAR_0431362054S → F. Corresponds to variant dbSNP:rs2305637EnsemblClinVar.1
Natural variantiVAR_0669822100P → L in GPS. 1 PublicationCorresponds to variant dbSNP:rs387907115EnsemblClinVar.1
Natural variantiVAR_0669832263H → Y in GPS. 1 PublicationCorresponds to variant dbSNP:rs1357067113Ensembl.1
Natural variantiVAR_0669842269S → L in GPS. 1 PublicationCorresponds to variant dbSNP:rs749896920Ensembl.1
Natural variantiVAR_0669852553G → E1 PublicationCorresponds to variant dbSNP:rs144664865EnsemblClinVar.1
Natural variantiVAR_0431372747E → K. Corresponds to variant dbSNP:rs12893Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0335051129 – 1181Missing in isoform 2. 1 PublicationAdd BLAST53
Alternative sequenceiVSP_0335061235 – 1365Missing in isoform 2. 1 PublicationAdd BLAST131
Alternative sequenceiVSP_0335072379 – 2408Missing in isoform 3. 1 PublicationAdd BLAST30

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK131104 mRNA Translation: BAC85154.1 Different initiation.
AC094020 Genomic DNA No translation available.
AK092871 mRNA Translation: BAC03994.1 Sequence problems.
AB011112 mRNA Translation: BAA25466.3
AY358455 mRNA Translation: AAQ88820.1
BC060874 mRNA Translation: AAH60874.2
CCDSiCCDS46817.1 [Q6ZNJ1-1]
PIRiT00271
RefSeqiNP_055990.1, NM_015175.2 [Q6ZNJ1-1]
XP_011531835.1, XM_011533533.2 [Q6ZNJ1-3]
UniGeneiHs.437043

Genome annotation databases

EnsembliENST00000450053; ENSP00000415034; ENSG00000160796 [Q6ZNJ1-1]
GeneIDi23218
KEGGihsa:23218
UCSCiuc003cqp.4 human [Q6ZNJ1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK131104 mRNA Translation: BAC85154.1 Different initiation.
AC094020 Genomic DNA No translation available.
AK092871 mRNA Translation: BAC03994.1 Sequence problems.
AB011112 mRNA Translation: BAA25466.3
AY358455 mRNA Translation: AAQ88820.1
BC060874 mRNA Translation: AAH60874.2
CCDSiCCDS46817.1 [Q6ZNJ1-1]
PIRiT00271
RefSeqiNP_055990.1, NM_015175.2 [Q6ZNJ1-1]
XP_011531835.1, XM_011533533.2 [Q6ZNJ1-3]
UniGeneiHs.437043

3D structure databases

ProteinModelPortaliQ6ZNJ1
SMRiQ6ZNJ1
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116825, 6 interactors
IntActiQ6ZNJ1, 134 interactors
STRINGi9606.ENSP00000415034

PTM databases

iPTMnetiQ6ZNJ1
PhosphoSitePlusiQ6ZNJ1

Polymorphism and mutation databases

BioMutaiNBEAL2
DMDMi189030821

Proteomic databases

EPDiQ6ZNJ1
MaxQBiQ6ZNJ1
PaxDbiQ6ZNJ1
PeptideAtlasiQ6ZNJ1
PRIDEiQ6ZNJ1
ProteomicsDBi68028
68029 [Q6ZNJ1-2]
68030 [Q6ZNJ1-3]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000450053; ENSP00000415034; ENSG00000160796 [Q6ZNJ1-1]
GeneIDi23218
KEGGihsa:23218
UCSCiuc003cqp.4 human [Q6ZNJ1-1]

Organism-specific databases

CTDi23218
DisGeNETi23218
EuPathDBiHostDB:ENSG00000160796.16
GeneCardsiNBEAL2
HGNCiHGNC:31928 NBEAL2
HPAiHPA051969
MalaCardsiNBEAL2
MIMi139090 phenotype
614169 gene
neXtProtiNX_Q6ZNJ1
OpenTargetsiENSG00000160796
Orphaneti721 Gray platelet syndrome
PharmGKBiPA128394612
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1787 Eukaryota
ENOG410XNQC LUCA
GeneTreeiENSGT00760000119083
HOGENOMiHOG000007936
HOVERGENiHBG108176
InParanoidiQ6ZNJ1
OMAiHPVNQES
OrthoDBiEOG091G031Z
PhylomeDBiQ6ZNJ1
TreeFamiTF323165

Enzyme and pathway databases

ReactomeiR-HSA-6798695 Neutrophil degranulation
SignaLinkiQ6ZNJ1

Miscellaneous databases

ChiTaRSiNBEAL2 human
GeneWikiiNBEAL2
GenomeRNAii23218
PROiPR:Q6ZNJ1
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000160796 Expressed in 177 organ(s), highest expression level in blood
CleanExiHS_NBEAL2
ExpressionAtlasiQ6ZNJ1 baseline and differential
GenevisibleiQ6ZNJ1 HS

Family and domain databases

CDDicd06071 Beach, 1 hit
cd01201 PH_BEACH, 1 hit
Gene3Di1.10.1540.10, 1 hit
InterProiView protein in InterPro
IPR016024 ARM-type_fold
IPR000409 BEACH_dom
IPR036372 BEACH_dom_sf
IPR013320 ConA-like_dom_sf
IPR031570 DUF4704
IPR026916 NBEAL2
IPR023362 PH-BEACH_dom
IPR001680 WD40_repeat
IPR017986 WD40_repeat_dom
IPR036322 WD40_repeat_dom_sf
PANTHERiPTHR13743:SF111 PTHR13743:SF111, 1 hit
PfamiView protein in Pfam
PF02138 Beach, 1 hit
PF15787 DUF4704, 1 hit
PF14844 PH_BEACH, 1 hit
PF00400 WD40, 2 hits
SMARTiView protein in SMART
SM01026 Beach, 1 hit
SM00320 WD40, 3 hits
SUPFAMiSSF48371 SSF48371, 1 hit
SSF49899 SSF49899, 1 hit
SSF50978 SSF50978, 1 hit
SSF81837 SSF81837, 1 hit
PROSITEiView protein in PROSITE
PS50197 BEACH, 1 hit
PS51783 PH_BEACH, 1 hit
PS50082 WD_REPEATS_2, 2 hits
PS50294 WD_REPEATS_REGION, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiNBEL2_HUMAN
AccessioniPrimary (citable) accession number: Q6ZNJ1
Secondary accession number(s): O60288
, Q6P994, Q6UX91, Q8NAC9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 20, 2008
Last sequence update: May 20, 2008
Last modified: November 7, 2018
This is version 133 of the entry and version 2 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

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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