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Protein

Engulfment and cell motility protein 2

Gene

ELMO2

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

Functioni

Involved in cytoskeletal rearrangements required for phagocytosis of apoptotic cells and cell motility. Acts in association with DOCK1 and CRK. Was initially proposed to be required in complex with DOCK1 to activate Rac Rho small GTPases. May enhance the guanine nucleotide exchange factor (GEF) activity of DOCK1.4 Publications

GO - Molecular functioni

  • receptor tyrosine kinase binding Source: UniProtKB
  • SH3 domain binding Source: UniProtKB-KW

GO - Biological processi

Keywordsi

Biological processApoptosis, Phagocytosis

Enzyme and pathway databases

ReactomeiR-HSA-2029482 Regulation of actin dynamics for phagocytic cup formation
R-HSA-4420097 VEGFA-VEGFR2 Pathway
R-HSA-8849471 PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases

Names & Taxonomyi

Protein namesi
Recommended name:
Engulfment and cell motility protein 2
Alternative name(s):
Protein ced-12 homolog A
Short name:
hCed-12A
Gene namesi
Name:ELMO2
Synonyms:CED12A, KIAA1834
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

EuPathDBiHostDB:ENSG00000062598.17
HGNCiHGNC:17233 ELMO2
MIMi606421 gene
neXtProtiNX_Q96JJ3

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

Cytoplasm, Membrane

Pathology & Biotechi

Involvement in diseasei

Vascular malformation, primary intraosseous (VMOS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare malformation characterized by non-neoplastic severe expansions of blood vessels, usually seen in the vertebral column and in the skull. The most commonly affected bones in the skull are the mandible and the maxilla, and life-threatening bleeding after a simple tooth extraction is frequently observed. Inheritance is autosomal recessive.
See also OMIM:606893

Organism-specific databases

DisGeNETi63916
MalaCardsiELMO2
MIMi606893 phenotype
OpenTargetsiENSG00000062598
Orphaneti140436 Primary intraosseous venous malformation
3019 Ramon syndrome
PharmGKBiPA27755

Polymorphism and mutation databases

BioMutaiELMO2
DMDMi30913107

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001537141 – 720Engulfment and cell motility protein 2Add BLAST720

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei48PhosphotyrosineBy similarity1
Modified residuei503PhosphoserineCombined sources1
Modified residuei717PhosphotyrosineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ96JJ3
MaxQBiQ96JJ3
PaxDbiQ96JJ3
PeptideAtlasiQ96JJ3
PRIDEiQ96JJ3
ProteomicsDBi76970

PTM databases

iPTMnetiQ96JJ3
PhosphoSitePlusiQ96JJ3

Expressioni

Tissue specificityi

Widely expressed, with a higher expression in skeletal muscle, kidney and placenta.1 Publication

Gene expression databases

BgeeiENSG00000062598 Expressed in 219 organ(s), highest expression level in cerebellar hemisphere
ExpressionAtlasiQ96JJ3 baseline and differential
GenevisibleiQ96JJ3 HS

Organism-specific databases

HPAiHPA018811

Interactioni

Subunit structurei

Interacts with the SH3-domain of DOCK1 via its SH3-binding site. Probably part of a complex with DOCK1 and RAC1. Probably part of a complex with DOCK1 and CRK isoform CRK-II. Interacts with ARHGEF16, DOCK4 and EPHA2; mediates activation of RAC1 by EPHA2 (PubMed:20679435). Interacts with ADGRB3 (PubMed:24567399). Interacts with AUTS2; the interaction is direct (By similarity).By similarity3 Publications

GO - Molecular functioni

Protein-protein interaction databases

BioGridi121987, 19 interactors
IntActiQ96JJ3, 3 interactors
STRINGi9606.ENSP00000290246

Structurei

3D structure databases

ProteinModelPortaliQ96JJ3
SMRiQ96JJ3
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini311 – 485ELMOPROSITE-ProRule annotationAdd BLAST175
Domaini553 – 674PHAdd BLAST122

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi700 – 707SH3-binding8

Keywords - Domaini

SH3-binding

Phylogenomic databases

eggNOGiKOG2999 Eukaryota
ENOG410XPKN LUCA
GeneTreeiENSGT00390000014155
HOGENOMiHOG000230985
HOVERGENiHBG051463
InParanoidiQ96JJ3
KOiK18985
OMAiYLAKFHQ
OrthoDBiEOG091G03JJ
PhylomeDBiQ96JJ3
TreeFamiTF312966

Family and domain databases

Gene3Di1.25.10.10, 1 hit
2.30.29.30, 1 hit
InterProiView protein in InterPro
IPR011989 ARM-like
IPR016024 ARM-type_fold
IPR024574 DUF3361
IPR030713 ELMO2
IPR006816 ELMO_dom
IPR011993 PH-like_dom_sf
IPR001849 PH_domain
PANTHERiPTHR12771:SF8 PTHR12771:SF8, 1 hit
PfamiView protein in Pfam
PF11841 DUF3361, 1 hit
PF04727 ELMO_CED12, 1 hit
PF16457 PH_12, 1 hit
SUPFAMiSSF48371 SSF48371, 1 hit
PROSITEiView protein in PROSITE
PS51335 ELMO, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q96JJ3-1) [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
MPPPSDIVKV AIEWPGANAQ LLEIDQKRPL ASIIKEVCDG WSLPNPEYYT
60 70 80 90 100
LRYADGPQLY ITEQTRSDIK NGTILQLAIS PSRAARQLME RTQSSNMETR
110 120 130 140 150
LDAMKELAKL SADVTFATEF INMDGIIVLT RLVESGTKLL SHYSEMLAFT
160 170 180 190 200
LTAFLELMDH GIVSWDMVSI TFIKQIAGYV SQPMVDVSIL QRSLAILESM
210 220 230 240 250
VLNSQSLYQK IAEEITVGQL ISHLQVSNQE IQTYAIALIN ALFLKAPEDK
260 270 280 290 300
RQDMANAFAQ KHLRSIILNH VIRGNRPIKT EMAHQLYVLQ VLTFNLLEER
310 320 330 340 350
MMTKMDPNDQ AQRDIIFELR RIAFDAESDP SNAPGSGTEK RKAMYTKDYK
360 370 380 390 400
MLGFTNHINP AMDFTQTPPG MLALDNMLYL AKVHQDTYIR IVLENSSRED
410 420 430 440 450
KHECPFGRSA IELTKMLCEI LQVGELPNEG RNDYHPMFFT HDRAFEELFG
460 470 480 490 500
ICIQLLNKTW KEMRATAEDF NKVMQVVREQ ITRALPSKPN SLDQFKSKLR
510 520 530 540 550
SLSYSEILRL RQSERMSQDD FQSPPIVELR EKIQPEILEL IKQQRLNRLC
560 570 580 590 600
EGSSFRKIGN RRRQERFWYC RLALNHKVLH YGDLDDNPQG EVTFESLQEK
610 620 630 640 650
IPVADIKAIV TGKDCPHMKE KSALKQNKEV LELAFSILYD PDETLNFIAP
660 670 680 690 700
NKYEYCIWID GLSALLGKDM SSELTKSDLD TLLSMEMKLR LLDLENIQIP
710 720
EAPPPIPKEP SSYDFVYHYG
Length:720
Mass (Da):82,615
Last modified:May 16, 2003 - v2
Checksum:iA67377E3B26F2937
GO
Isoform 2 (identifier: Q96JJ3-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-88: Missing.

Note: No experimental confirmation available.
Show »
Length:632
Mass (Da):72,798
Checksum:i066EE50A3A2B358A
GO

Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q5JVZ5Q5JVZ5_HUMAN
Engulfment and cell motility protei...
ELMO2 hCG_1811050
718Annotation score:
Q5JVZ4Q5JVZ4_HUMAN
Engulfment and cell motility protei...
ELMO2
338Annotation score:
H0YCM7H0YCM7_HUMAN
Engulfment and cell motility protei...
ELMO2
441Annotation score:
Q5JW01Q5JW01_HUMAN
Engulfment and cell motility protei...
ELMO2
283Annotation score:
Q5JVZ8Q5JVZ8_HUMAN
Engulfment and cell motility protei...
ELMO2
267Annotation score:

Sequence cautioni

The sequence BAB13879 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAB14210 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAB14405 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAB47463 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti208Y → C in BAB71350 (PubMed:14702039).Curated1
Sequence conflicti299E → G in BAB13879 (PubMed:14702039).Curated1
Sequence conflicti509R → P in BAB13879 (PubMed:14702039).Curated1
Sequence conflicti586D → N in BAB14210 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_048928695E → D. Corresponds to variant dbSNP:rs34630674Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0554771 – 88Missing in isoform 2. 1 PublicationAdd BLAST88

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF398886 Transcribed RNA Translation: AAL14467.1
AF417861 mRNA Translation: AAL38512.1
AB058737 mRNA Translation: BAB47463.1 Different initiation.
AK021718 mRNA Translation: BAB13879.1 Different initiation.
AK022731 mRNA Translation: BAB14210.1 Different initiation.
AK023103 mRNA Translation: BAB14405.1 Different initiation.
AK057032 mRNA Translation: BAB71350.1
AL031686 Genomic DNA No translation available.
AL133227 Genomic DNA No translation available.
CH471077 Genomic DNA Translation: EAW75739.1
CH471077 Genomic DNA Translation: EAW75743.1
CH471077 Genomic DNA Translation: EAW75745.1
CH471077 Genomic DNA Translation: EAW75746.1
BC000143 mRNA Translation: AAH00143.2
CCDSiCCDS13398.1 [Q96JJ3-1]
CCDS82623.1 [Q96JJ3-3]
RefSeqiNP_001305182.1, NM_001318253.1 [Q96JJ3-3]
NP_573403.1, NM_133171.4 [Q96JJ3-1]
NP_877496.1, NM_182764.2 [Q96JJ3-1]
XP_005260553.1, XM_005260496.3 [Q96JJ3-1]
XP_005260555.1, XM_005260498.3 [Q96JJ3-3]
XP_005260556.1, XM_005260499.3 [Q96JJ3-3]
XP_005260557.1, XM_005260500.3 [Q96JJ3-3]
XP_006723917.1, XM_006723854.3 [Q96JJ3-1]
UniGeneiHs.210469

Genome annotation databases

EnsembliENST00000290246; ENSP00000290246; ENSG00000062598 [Q96JJ3-1]
ENST00000372176; ENSP00000361249; ENSG00000062598 [Q96JJ3-3]
ENST00000396391; ENSP00000379673; ENSG00000062598 [Q96JJ3-1]
GeneIDi63916
KEGGihsa:63916
UCSCiuc002xrt.2 human [Q96JJ3-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF398886 Transcribed RNA Translation: AAL14467.1
AF417861 mRNA Translation: AAL38512.1
AB058737 mRNA Translation: BAB47463.1 Different initiation.
AK021718 mRNA Translation: BAB13879.1 Different initiation.
AK022731 mRNA Translation: BAB14210.1 Different initiation.
AK023103 mRNA Translation: BAB14405.1 Different initiation.
AK057032 mRNA Translation: BAB71350.1
AL031686 Genomic DNA No translation available.
AL133227 Genomic DNA No translation available.
CH471077 Genomic DNA Translation: EAW75739.1
CH471077 Genomic DNA Translation: EAW75743.1
CH471077 Genomic DNA Translation: EAW75745.1
CH471077 Genomic DNA Translation: EAW75746.1
BC000143 mRNA Translation: AAH00143.2
CCDSiCCDS13398.1 [Q96JJ3-1]
CCDS82623.1 [Q96JJ3-3]
RefSeqiNP_001305182.1, NM_001318253.1 [Q96JJ3-3]
NP_573403.1, NM_133171.4 [Q96JJ3-1]
NP_877496.1, NM_182764.2 [Q96JJ3-1]
XP_005260553.1, XM_005260496.3 [Q96JJ3-1]
XP_005260555.1, XM_005260498.3 [Q96JJ3-3]
XP_005260556.1, XM_005260499.3 [Q96JJ3-3]
XP_005260557.1, XM_005260500.3 [Q96JJ3-3]
XP_006723917.1, XM_006723854.3 [Q96JJ3-1]
UniGeneiHs.210469

3D structure databases

ProteinModelPortaliQ96JJ3
SMRiQ96JJ3
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121987, 19 interactors
IntActiQ96JJ3, 3 interactors
STRINGi9606.ENSP00000290246

PTM databases

iPTMnetiQ96JJ3
PhosphoSitePlusiQ96JJ3

Polymorphism and mutation databases

BioMutaiELMO2
DMDMi30913107

Proteomic databases

EPDiQ96JJ3
MaxQBiQ96JJ3
PaxDbiQ96JJ3
PeptideAtlasiQ96JJ3
PRIDEiQ96JJ3
ProteomicsDBi76970

Protocols and materials databases

DNASUi63916
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000290246; ENSP00000290246; ENSG00000062598 [Q96JJ3-1]
ENST00000372176; ENSP00000361249; ENSG00000062598 [Q96JJ3-3]
ENST00000396391; ENSP00000379673; ENSG00000062598 [Q96JJ3-1]
GeneIDi63916
KEGGihsa:63916
UCSCiuc002xrt.2 human [Q96JJ3-1]

Organism-specific databases

CTDi63916
DisGeNETi63916
EuPathDBiHostDB:ENSG00000062598.17
GeneCardsiELMO2
HGNCiHGNC:17233 ELMO2
HPAiHPA018811
MalaCardsiELMO2
MIMi606421 gene
606893 phenotype
neXtProtiNX_Q96JJ3
OpenTargetsiENSG00000062598
Orphaneti140436 Primary intraosseous venous malformation
3019 Ramon syndrome
PharmGKBiPA27755
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2999 Eukaryota
ENOG410XPKN LUCA
GeneTreeiENSGT00390000014155
HOGENOMiHOG000230985
HOVERGENiHBG051463
InParanoidiQ96JJ3
KOiK18985
OMAiYLAKFHQ
OrthoDBiEOG091G03JJ
PhylomeDBiQ96JJ3
TreeFamiTF312966

Enzyme and pathway databases

ReactomeiR-HSA-2029482 Regulation of actin dynamics for phagocytic cup formation
R-HSA-4420097 VEGFA-VEGFR2 Pathway
R-HSA-8849471 PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases

Miscellaneous databases

ChiTaRSiELMO2 human
GeneWikiiELMO2
GenomeRNAii63916
PROiPR:Q96JJ3
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000062598 Expressed in 219 organ(s), highest expression level in cerebellar hemisphere
ExpressionAtlasiQ96JJ3 baseline and differential
GenevisibleiQ96JJ3 HS

Family and domain databases

Gene3Di1.25.10.10, 1 hit
2.30.29.30, 1 hit
InterProiView protein in InterPro
IPR011989 ARM-like
IPR016024 ARM-type_fold
IPR024574 DUF3361
IPR030713 ELMO2
IPR006816 ELMO_dom
IPR011993 PH-like_dom_sf
IPR001849 PH_domain
PANTHERiPTHR12771:SF8 PTHR12771:SF8, 1 hit
PfamiView protein in Pfam
PF11841 DUF3361, 1 hit
PF04727 ELMO_CED12, 1 hit
PF16457 PH_12, 1 hit
SUPFAMiSSF48371 SSF48371, 1 hit
PROSITEiView protein in PROSITE
PS51335 ELMO, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiELMO2_HUMAN
AccessioniPrimary (citable) accession number: Q96JJ3
Secondary accession number(s): E1P5T3
, Q5JVZ6, Q7Z5G9, Q96CJ2, Q96ME5, Q96PA9, Q9H938, Q9H9L5, Q9HAH0, Q9NQQ6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 16, 2003
Last sequence update: May 16, 2003
Last modified: November 7, 2018
This is version 159 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, 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 20
    Human chromosome 20: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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