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Protein

Integral membrane protein 2A

Gene

ITM2A

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

Functioni

GO - Molecular functioni

  • amyloid-beta binding Source: GO_Central

GO - Biological processi

Names & Taxonomyi

Protein namesi
Recommended name:
Integral membrane protein 2A
Alternative name(s):
Protein E25
Gene namesi
Name:ITM2A
ORF Names:UNQ603/PRO1189
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

EuPathDBiHostDB:ENSG00000078596.10
HGNCiHGNC:6173 ITM2A
MIMi300222 gene
neXtProtiNX_O43736

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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei54 – 74Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST21

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi9452
OpenTargetsiENSG00000078596
Orphaneti2227 NON RARE IN EUROPE: Hypodontia
PharmGKBiPA29970

Polymorphism and mutation databases

BioMutaiITM2A

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001548181 – 263Integral membrane protein 2AAdd BLAST263

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi160 ↔ 219By similarity
Glycosylationi166N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

EPDiO43736
MaxQBiO43736
PaxDbiO43736
PeptideAtlasiO43736
PRIDEiO43736
ProteomicsDBi49140
49141 [O43736-2]

PTM databases

iPTMnetiO43736
PhosphoSitePlusiO43736
SwissPalmiO43736

Expressioni

Gene expression databases

BgeeiENSG00000078596 Expressed in 244 organ(s), highest expression level in substantia nigra
CleanExiHS_ITM2A
GenevisibleiO43736 HS

Organism-specific databases

HPAiHPA002918

Interactioni

Binary interactionsi

Protein-protein interaction databases

BioGridi114841, 15 interactors
IntActiO43736, 7 interactors
STRINGi9606.ENSP00000362395

Structurei

3D structure databases

ProteinModelPortaliO43736
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini133 – 227BRICHOSPROSITE-ProRule annotationAdd BLAST95

Sequence similaritiesi

Belongs to the ITM2 family.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG4681 Eukaryota
ENOG410XRNN LUCA
GeneTreeiENSGT00390000005162
HOGENOMiHOG000231259
HOVERGENiHBG059373
InParanoidiO43736
KOiK18241
OMAiKYLPHTY
OrthoDBiEOG091G0E78
PhylomeDBiO43736
TreeFamiTF317770

Family and domain databases

InterProiView protein in InterPro
IPR007084 BRICHOS_dom
PfamiView protein in Pfam
PF04089 BRICHOS, 1 hit
SMARTiView protein in SMART
SM01039 BRICHOS, 1 hit
PROSITEiView protein in PROSITE
PS50869 BRICHOS, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: O43736-1) [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
MVKIAFNTPT AVQKEEARQD VEALLSRTVR TQILTGKELR VATQEKEGSS
60 70 80 90 100
GRCMLTLLGL SFILAGLIVG GACIYKYFMP KSTIYRGEMC FFDSEDPANS
110 120 130 140 150
LRGGEPNFLP VTEEADIRED DNIAIIDVPV PSFSDSDPAA IIHDFEKGMT
160 170 180 190 200
AYLDLLLGNC YLMPLNTSIV MPPKNLVELF GKLASGRYLP QTYVVREDLV
210 220 230 240 250
AVEEIRDVSN LGIFIYQLCN NRKSFRLRRR DLLLGFNKRA IDKCWKIRHF
260
PNEFIVETKI CQE
Length:263
Mass (Da):29,741
Last modified:July 15, 1999 - v2
Checksum:iC565E2F80FE223BD
GO
Isoform 2 (identifier: O43736-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     37-80: Missing.

Note: No experimental confirmation available.
Show »
Length:219
Mass (Da):24,994
Checksum:iA137AFA960AFED48
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti263E → D in CAG33156 (Ref. 4) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03402972A → V. Corresponds to variant dbSNP:rs35056863Ensembl.1
Natural variantiVAR_034030230R → T. Corresponds to variant dbSNP:rs35629312Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_04256237 – 80Missing in isoform 2. 1 PublicationAdd BLAST44

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF038953 mRNA Translation: AAC39867.1
AY359051 mRNA Translation: AAQ89410.1
AK303238 mRNA Translation: BAG64324.1
AK313154 mRNA Translation: BAG35972.1
CR456875 mRNA Translation: CAG33156.1
AL009028 Genomic DNA No translation available.
AL021786 Genomic DNA No translation available.
CH471104 Genomic DNA Translation: EAW98591.1
BC040437 mRNA Translation: AAH40437.1
CCDSiCCDS14444.1 [O43736-1]
CCDS55455.1 [O43736-2]
RefSeqiNP_001165052.1, NM_001171581.1 [O43736-2]
NP_004858.1, NM_004867.4 [O43736-1]
UniGeneiHs.17109
Hs.694944

Genome annotation databases

EnsembliENST00000373298; ENSP00000362395; ENSG00000078596 [O43736-1]
ENST00000434584; ENSP00000415533; ENSG00000078596 [O43736-2]
GeneIDi9452
KEGGihsa:9452
UCSCiuc004edh.4 human [O43736-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF038953 mRNA Translation: AAC39867.1
AY359051 mRNA Translation: AAQ89410.1
AK303238 mRNA Translation: BAG64324.1
AK313154 mRNA Translation: BAG35972.1
CR456875 mRNA Translation: CAG33156.1
AL009028 Genomic DNA No translation available.
AL021786 Genomic DNA No translation available.
CH471104 Genomic DNA Translation: EAW98591.1
BC040437 mRNA Translation: AAH40437.1
CCDSiCCDS14444.1 [O43736-1]
CCDS55455.1 [O43736-2]
RefSeqiNP_001165052.1, NM_001171581.1 [O43736-2]
NP_004858.1, NM_004867.4 [O43736-1]
UniGeneiHs.17109
Hs.694944

3D structure databases

ProteinModelPortaliO43736
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114841, 15 interactors
IntActiO43736, 7 interactors
STRINGi9606.ENSP00000362395

PTM databases

iPTMnetiO43736
PhosphoSitePlusiO43736
SwissPalmiO43736

Polymorphism and mutation databases

BioMutaiITM2A

Proteomic databases

EPDiO43736
MaxQBiO43736
PaxDbiO43736
PeptideAtlasiO43736
PRIDEiO43736
ProteomicsDBi49140
49141 [O43736-2]

Protocols and materials databases

DNASUi9452
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000373298; ENSP00000362395; ENSG00000078596 [O43736-1]
ENST00000434584; ENSP00000415533; ENSG00000078596 [O43736-2]
GeneIDi9452
KEGGihsa:9452
UCSCiuc004edh.4 human [O43736-1]

Organism-specific databases

CTDi9452
DisGeNETi9452
EuPathDBiHostDB:ENSG00000078596.10
GeneCardsiITM2A
HGNCiHGNC:6173 ITM2A
HPAiHPA002918
MIMi300222 gene
neXtProtiNX_O43736
OpenTargetsiENSG00000078596
Orphaneti2227 NON RARE IN EUROPE: Hypodontia
PharmGKBiPA29970
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4681 Eukaryota
ENOG410XRNN LUCA
GeneTreeiENSGT00390000005162
HOGENOMiHOG000231259
HOVERGENiHBG059373
InParanoidiO43736
KOiK18241
OMAiKYLPHTY
OrthoDBiEOG091G0E78
PhylomeDBiO43736
TreeFamiTF317770

Miscellaneous databases

ChiTaRSiITM2A human
GeneWikiiITM2A
GenomeRNAii9452
PROiPR:O43736
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000078596 Expressed in 244 organ(s), highest expression level in substantia nigra
CleanExiHS_ITM2A
GenevisibleiO43736 HS

Family and domain databases

InterProiView protein in InterPro
IPR007084 BRICHOS_dom
PfamiView protein in Pfam
PF04089 BRICHOS, 1 hit
SMARTiView protein in SMART
SM01039 BRICHOS, 1 hit
PROSITEiView protein in PROSITE
PS50869 BRICHOS, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiITM2A_HUMAN
AccessioniPrimary (citable) accession number: O43736
Secondary accession number(s): B2R7X5, B4E062, Q6IBC9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: July 15, 1999
Last modified: November 7, 2018
This is version 154 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. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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