ITM2A

Functionⁱ

GO - Molecular functionⁱ

amyloid-beta binding
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

immunoglobulin production Source: Ensembl
negative regulation of amyloid precursor protein biosynthetic process
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635
plasma cell differentiation Source: Ensembl

View the complete GO annotation on QuickGO ...

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Integral membrane protein 2A Alternative name(s): Protein E25
Gene namesⁱ	Name:ITM2A ORF Names:UNQ603/PRO1189
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome X

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000078596.10
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:6173 ITM2A
MIMⁱ	300222 gene
neXtProtⁱ	NX_O43736

Topology

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Transmembraneⁱ	54 – 74	Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST		21

Keywords - Cellular componentⁱ

Membrane

Pathology & Biotechⁱ

Organism-specific databases

DisGeNET More...DisGeNETⁱ	9452
Open Targets More...OpenTargetsⁱ	ENSG00000078596
Orphanetⁱ	2227 NON RARE IN EUROPE: Hypodontia
PharmGKBⁱ	PA29970

Polymorphism and mutation databases

BioMutaⁱ	ITM2A

BioMutaⁱ

ITM2A

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
ChainⁱPRO_0000154818	1 – 263	Integral membrane protein 2AAdd BLAST		263

Amino acid modifications

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Disulfide bondⁱ	160 ↔ 219	By similarity
Glycosylationⁱ	166	N-linked (GlcNAc...) asparagineSequence analysis		1

Keywords - PTMⁱ

Disulfide bond, Glycoprotein

Proteomic databases

EPDⁱ	O43736
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	O43736
PaxDbⁱ	O43736
PeptideAtlas More...PeptideAtlasⁱ	O43736
PRIDEⁱ	O43736
ProteomicsDBⁱ	49140 49141 [O43736-2]

PTM databases

iPTMnetⁱ	O43736
PhosphoSitePlusⁱ	O43736
SwissPalmⁱ	O43736

Expressionⁱ

Gene expression databases

Bgeeⁱ	ENSG00000078596 Expressed in 244 organ(s), highest expression level in substantia nigra
CleanExⁱ	HS_ITM2A
Genevisibleⁱ	O43736 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA002918

HPAⁱ

HPA002918

Interactionⁱ

Binary interactionsⁱ

With	Entry	#Exp.	IntAct	Notes
APP	P05067-4	3	EBI-2431769,EBI-302641
MEOX2	P50222	3	EBI-2431769,EBI-748397

Protein-protein interaction databases

BioGridⁱ	114841, 15 interactors
IntActⁱ	O43736, 7 interactors
STRINGⁱ	9606.ENSP00000362395

Structureⁱ

3D structure databases

ProteinModelPortalⁱ	O43736
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Domains and Repeats

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Domainⁱ	133 – 227	BRICHOSPROSITE-ProRule annotationAdd BLAST		95

Sequence similaritiesⁱ

Belongs to the ITM2 family.Curated

Keywords - Domainⁱ

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGⁱ	KOG4681 Eukaryota ENOG410XRNN LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00390000005162
HOGENOMⁱ	HOG000231259
HOVERGENⁱ	HBG059373
InParanoidⁱ	O43736
KEGG Orthology (KO) More...KOⁱ	K18241
OMAⁱ	KYLPHTY
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G0E78
PhylomeDBⁱ	O43736
TreeFamⁱ	TF317770

Family and domain databases

InterProⁱ	View protein in InterPro IPR007084 BRICHOS_dom
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF04089 BRICHOS, 1 hit
SMARTⁱ	View protein in SMART SM01039 BRICHOS, 1 hit
PROSITEⁱ	View protein in PROSITE PS50869 BRICHOS, 1 hit

Sequences (2)ⁱ

Sequence statusⁱ: Complete.

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

Isoform 1 (identifier: O43736-1) [UniParc]FASTA Add 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]FASTA Add to basket

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

« Hide

        10         20         30         40         50
MVKIAFNTPT AVQKEEARQD VEALLSRTVR TQILTGKSTI YRGEMCFFDS 
        60         70         80         90        100
EDPANSLRGG EPNFLPVTEE ADIREDDNIA IIDVPVPSFS DSDPAAIIHD 
       110        120        130        140        150
FEKGMTAYLD LLLGNCYLMP LNTSIVMPPK NLVELFGKLA SGRYLPQTYV 
       160        170        180        190        200
VREDLVAVEE IRDVSNLGIF IYQLCNNRKS FRLRRRDLLL GFNKRAIDKC 
       210 
WKIRHFPNEF IVETKICQE

Note: No experimental confirmation available.

Show »

Length:219

Mass (Da):24,994

Checksum:ⁱA137AFA960AFED48

GO

Experimental Info

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Sequence conflictⁱ	263	E → D in CAG33156 (Ref. 4) Curated		1

Natural variant

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Natural variantⁱVAR_034029	72	A → V. Corresponds to variant dbSNP:rs35056863Ensembl.		1
Natural variantⁱVAR_034030	230	R → T. Corresponds to variant dbSNP:rs35629312Ensembl.		1

Alternative sequence

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Alternative sequenceⁱVSP_042562	37 – 80	Missing in isoform 2. 1 PublicationAdd BLAST		44

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
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS14444.1 [O43736-1] CCDS55455.1 [O43736-2]
NCBI Reference Sequences More...RefSeqⁱ	NP_001165052.1, NM_001171581.1 [O43736-2] NP_004858.1, NM_004867.4 [O43736-1]
UniGeneⁱ	Hs.17109 Hs.694944

Genome annotation databases

Ensemblⁱ	ENST00000373298; ENSP00000362395; ENSG00000078596 [O43736-1] ENST00000434584; ENSP00000415533; ENSG00000078596 [O43736-2]
GeneIDⁱ	9452
KEGGⁱ	hsa:9452
UCSC genome browser More...UCSCⁱ	uc004edh.4 human [O43736-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing, Polymorphism

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
O43736	Uncharacterized protein		MACFA		285	UniRef100_O43736
Uncharacterized protein		MACNE		285
Integral membrane protein 2A isoform 1		MACMU		263
ITM2A isoform 3		PANTR		263
Uncharacterized protein		COLAP		263
+7
O43736-2	Integral membrane protein 2A isoform 2		MACMU		219	UniRef100_H9Z2C4
ITM2A isoform 2		PANTR		219
Uncharacterized protein		COLAP		219
Uncharacterized protein		RHIRO		219
Uncharacterized protein		PANPA		219
+4

Protein	Similar proteins		Species	Score	Length	Source
O43736	Uncharacterized protein		MACFA		285	UniRef90_O43736
Uncharacterized protein		MACNE		285
Integral membrane protein 2A isoform 1		MACMU		263
ITM2A isoform 3		PANTR		263
Uncharacterized protein		COLAP		263
+13
O43736-2	Integral membrane protein 2A		FELCA		219	UniRef90_M3W8P9
Integral membrane protein 2A-like isoform 2		CAMFR		236
Integral membrane protein 2A isoform 2		MACMU		219
ITM2A isoform 2		PANTR		219
Uncharacterized protein		COLAP		219
+30

Protein	Similar proteins		Species	Score	Length	Source
O43736	Integral membrane protein 2A		MOUSE		263	UniRef50_O43736
Uncharacterized protein		MACFA		285
Uncharacterized protein		MACNE		285
Integral membrane protein 2A isoform 1		MACMU		263
ITM2A isoform 3		PANTR		263
+121
O43736-2	Integral membrane protein 2A		FELCA		219	UniRef50_M3W8P9
Integral membrane protein 2A-like isoform 2		CAMFR		236
Uncharacterized protein		PAPAN		219
Uncharacterized protein		CERAT		219
Uncharacterized protein		MANLE		219
+38

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
CCDSⁱ	CCDS14444.1 [O43736-1] CCDS55455.1 [O43736-2]
RefSeqⁱ	NP_001165052.1, NM_001171581.1 [O43736-2] NP_004858.1, NM_004867.4 [O43736-1]
UniGeneⁱ	Hs.17109 Hs.694944

3D structure databases

ProteinModelPortalⁱ	O43736
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	114841, 15 interactors
IntActⁱ	O43736, 7 interactors
STRINGⁱ	9606.ENSP00000362395

PTM databases

iPTMnetⁱ	O43736
PhosphoSitePlusⁱ	O43736
SwissPalmⁱ	O43736

Polymorphism and mutation databases

BioMutaⁱ	ITM2A

BioMutaⁱ

ITM2A

Proteomic databases

EPDⁱ	O43736
MaxQBⁱ	O43736
PaxDbⁱ	O43736
PeptideAtlasⁱ	O43736
PRIDEⁱ	O43736
ProteomicsDBⁱ	49140 49141 [O43736-2]

Protocols and materials databases

The DNASU plasmid repository More...DNASUⁱ	9452
Structural Biology Knowledgebase	Search...

Genome annotation databases

Ensemblⁱ	ENST00000373298; ENSP00000362395; ENSG00000078596 [O43736-1] ENST00000434584; ENSP00000415533; ENSG00000078596 [O43736-2]
GeneIDⁱ	9452
KEGGⁱ	hsa:9452
UCSCⁱ	uc004edh.4 human [O43736-1]

Organism-specific databases

CTDⁱ	9452
DisGeNETⁱ	9452
EuPathDBⁱ	HostDB:ENSG00000078596.10
GeneCardsⁱ	ITM2A
HGNCⁱ	HGNC:6173 ITM2A
HPAⁱ	HPA002918
MIMⁱ	300222 gene
neXtProtⁱ	NX_O43736
OpenTargetsⁱ	ENSG00000078596
Orphanetⁱ	2227 NON RARE IN EUROPE: Hypodontia
PharmGKBⁱ	PA29970
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG4681 Eukaryota ENOG410XRNN LUCA
GeneTreeⁱ	ENSGT00390000005162
HOGENOMⁱ	HOG000231259
HOVERGENⁱ	HBG059373
InParanoidⁱ	O43736
KOⁱ	K18241
OMAⁱ	KYLPHTY
OrthoDBⁱ	EOG091G0E78
PhylomeDBⁱ	O43736
TreeFamⁱ	TF317770

Miscellaneous databases

ChiTaRSⁱ	ITM2A human
GeneWikiⁱ	ITM2A
GenomeRNAiⁱ	9452
Protein Ontology More...PROⁱ	PR:O43736
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000078596 Expressed in 244 organ(s), highest expression level in substantia nigra
CleanExⁱ	HS_ITM2A
Genevisibleⁱ	O43736 HS

Family and domain databases

InterProⁱ	View protein in InterPro IPR007084 BRICHOS_dom
Pfamⁱ	View protein in Pfam PF04089 BRICHOS, 1 hit
SMARTⁱ	View protein in SMART SM01039 BRICHOS, 1 hit
PROSITEⁱ	View protein in PROSITE PS50869 BRICHOS, 1 hit
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ	ITM2A_HUMAN
Accessionⁱ	O43736Primary (citable) accession number: O43736 Secondary accession number(s): B2R7X5, B4E062, Q6IBC9
Entry historyⁱ	Integrated 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 statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
Disclaimer	Any 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

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

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Supporting data

UniProtKB - O43736 (ITM2A_HUMAN)

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Integral membrane protein 2A

Select a section on the left to see content.

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Other locations

Golgi apparatus

Plasma Membrane

Other locations

Topology

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Amino acid modifications

Keywords - PTMi

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Phylogenomic databases

Family and domain databases

Experimental Info

Natural variant

Alternative sequence

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Documents

UniProt is an ELIXIR core data resource

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Pathology & Biotechⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Keywords - Domainⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ