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Protein

Integral membrane protein 2A

Gene

ITM2A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000078596-MONOMER.

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

HGNCiHGNC:6173. ITM2A.

Subcellular locationi

Topology

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

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi9452.
OpenTargetsiENSG00000078596.
Orphaneti2227. 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...)Sequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

EPDiO43736.
MaxQBiO43736.
PaxDbiO43736.
PeptideAtlasiO43736.
PRIDEiO43736.

PTM databases

iPTMnetiO43736.
PhosphoSitePlusiO43736.
SwissPalmiO43736.

Expressioni

Gene expression databases

BgeeiENSG00000078596.
CleanExiHS_ITM2A.
GenevisibleiO43736. HS.

Organism-specific databases

HPAiHPA002918.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
APPP05067-43EBI-2431769,EBI-302641
MEOX2A4D1273EBI-2431769,EBI-10172134

Protein-protein interaction databases

BioGridi114841. 14 interactors.
IntActiO43736. 2 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
Contains 1 BRICHOS domain.PROSITE-ProRule annotation

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

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

Family and domain databases

InterProiIPR007084. BRICHOS_dom.
[Graphical view]
PfamiPF04089. BRICHOS. 1 hit.
[Graphical view]
SMARTiSM01039. BRICHOS. 1 hit.
[Graphical view]
PROSITEiPS50869. BRICHOS. 1 hit.
[Graphical view]

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 rs35056863dbSNPEnsembl.1
Natural variantiVAR_034030230R → T.Corresponds to variant rs35629312dbSNPEnsembl.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, AL021786 Genomic DNA. Translation: CAI42363.1.
AL021786, AL009028 Genomic DNA. Translation: CAI43020.1.
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

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, AL021786 Genomic DNA. Translation: CAI42363.1.
AL021786, AL009028 Genomic DNA. Translation: CAI43020.1.
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. 14 interactors.
IntActiO43736. 2 interactors.
STRINGi9606.ENSP00000362395.

PTM databases

iPTMnetiO43736.
PhosphoSitePlusiO43736.
SwissPalmiO43736.

Polymorphism and mutation databases

BioMutaiITM2A.

Proteomic databases

EPDiO43736.
MaxQBiO43736.
PaxDbiO43736.
PeptideAtlasiO43736.
PRIDEiO43736.

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.
GeneCardsiITM2A.
HGNCiHGNC:6173. ITM2A.
HPAiHPA002918.
MIMi300222. gene.
neXtProtiNX_O43736.
OpenTargetsiENSG00000078596.
Orphaneti2227. Hypodontia.
PharmGKBiPA29970.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

BioCyciZFISH:ENSG00000078596-MONOMER.

Miscellaneous databases

ChiTaRSiITM2A. human.
GeneWikiiITM2A.
GenomeRNAii9452.
PROiO43736.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000078596.
CleanExiHS_ITM2A.
GenevisibleiO43736. HS.

Family and domain databases

InterProiIPR007084. BRICHOS_dom.
[Graphical view]
PfamiPF04089. BRICHOS. 1 hit.
[Graphical view]
SMARTiSM01039. BRICHOS. 1 hit.
[Graphical view]
PROSITEiPS50869. BRICHOS. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiITM2A_HUMAN
AccessioniPrimary (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 2, 2016
This is version 142 of the entry and version 2 of the sequence. [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 chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.