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UniProtKB - Q96BF3 (TMIG2_HUMAN)

Protein

Transmembrane and immunoglobulin domain-containing protein 2

Gene

TMIGD2

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

Functioni

Plays a role in cell-cell interaction, cell migration, and angiogenesis. Through interaction with HHLA2, costimulates T-cells in the context of TCR-mediated activation. Enhances T-cell proliferation and cytokine production via an AKT-dependent signaling cascade.2 Publications

GO - Molecular functioni

  • coreceptor activity Source: UniProtKB
View the complete GO annotation on QuickGO ...

GO - Biological processi

  • immune response Source: GO_Central
  • immunoglobulin production Source: GO_Central
  • positive regulation of activated T cell proliferation Source: UniProtKB
  • positive regulation of angiogenesis Source: CACAO
  • positive regulation of cytokine production Source: UniProtKB
  • T cell costimulation Source: UniProtKB
View the complete GO annotation on QuickGO ...

Names & Taxonomyi

Protein namesi
Recommended name:
Transmembrane and immunoglobulin domain-containing protein 2
Alternative name(s):
CD28 homolog
Immunoglobulin and proline-rich receptor 1
Short name:
IGPR-1
Gene namesi
Name:TMIGD2
Synonyms:CD28H, IGPR1
ORF Names:UNQ3059/PRO9879
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000167664.8
HGNCiHGNC:28324 TMIGD2
MIMi614715 gene
neXtProtiNX_Q96BF3

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
Topological domaini23 – 150ExtracellularSequence analysisAdd BLAST128
Transmembranei151 – 171HelicalSequence analysisAdd BLAST21
Topological domaini172 – 282CytoplasmicSequence analysisAdd BLAST111

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi192Y → F: Partial loss of phosphorylation; when associated with F-197. Complete loss of phosphorylation; when associated with F-222. 1 Publication1
Mutagenesisi197Y → F: Partial loss of phosphorylation; when associated with F-192 or with F-222. 1 Publication1
Mutagenesisi222Y → F: Partial loss of phosphorylation; when tested individually or when associated with F-197. Complete loss of phosphorylation; when associated with F-192. 1 Publication1

Organism-specific databases

DisGeNETi126259
OpenTargetsiENSG00000167664
PharmGKBiPA145148047

Polymorphism and mutation databases

BioMutaiTMIGD2
DMDMi125991218

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 221 PublicationAdd BLAST22
ChainiPRO_000027587023 – 282Transmembrane and immunoglobulin domain-containing protein 2Add BLAST260

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi44 ↔ 112PROSITE-ProRule annotation
Glycosylationi73N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi105N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi127N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei192PhosphotyrosineCurated1
Modified residuei220PhosphoserineCombined sources1
Modified residuei222PhosphotyrosineCurated1

Post-translational modificationi

N-glycosylated.1 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

PaxDbiQ96BF3
PeptideAtlasiQ96BF3
PRIDEiQ96BF3
ProteomicsDBi76072
76073 [Q96BF3-2]

PTM databases

iPTMnetiQ96BF3
PhosphoSitePlusiQ96BF3
SwissPalmiQ96BF3

Expressioni

Tissue specificityi

Widely expressed, mainly by epithelial and endothelial cells, including bronchial epithelial cells of lung, breast glandular and lobular epithelia cells, urothelium of the bladder, skin epidermis, epithelium of gastrointestinal, rectum, endometrial glands of the uterus, ureter, fallopian tube epithelium, colonic epithelium, small bowl epithelium, stomach epithelium, including both chief and parietal cells, trophoblastic epithelium of placenta, and pancreatic acinar cells (at protein level). Consistently expressed in veins and arteries (at protein level). Not detected in thyroid, cerebellum, cerebral cortex and thymus (at protein level). Expressed in lymphoid organs, with highest levels in thymus, spleen, peripheral blood lymphocytes and liver. In the thymus, expressed in CD4+ and CD8+ single- and double-positive cells, but not in immature CD4- and CD8- double-negative cells (at protein level). In peripheral blood mononuclear cells, highly expressed on CD56+ or CD16+ natural killer cells and CD3+ T-cells(at protein level). Not detected on B-cells(at protein level). Expressed in tonsils (at protein level).2 Publications

Developmental stagei

Repetitive stimulation of naive T-cells, including with IL2 and antibodies against CD3 and CD28 or repetitive antigenic exposure, leads to progressive and irreversible loss of expression.1 Publication

Gene expression databases

BgeeiENSG00000167664 Expressed in 190 organ(s), highest expression level in quadriceps femoris
CleanExiHS_TMIGD2
ExpressionAtlasiQ96BF3 baseline and differential
GenevisibleiQ96BF3 HS

Organism-specific databases

HPAiHPA011081

Interactioni

Subunit structurei

May form homophilic interactions that could regulate cell-cell interaction. Interacts with CACNB2, DST, MIA and NCKIPSD. Interacts with HHLA2.2 Publications

Protein-protein interaction databases

BioGridi125971, 1 interactor

Structurei

3D structure databases

ProteinModelPortaliQ96BF3
SMRiQ96BF3
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini23 – 129Ig-likeAdd BLAST107

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi227 – 277Pro-richAdd BLAST51

Keywords - Domaini

Immunoglobulin domain, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410J9M6 Eukaryota
ENOG41118HW LUCA
GeneTreeiENSGT00390000007100
HOGENOMiHOG000154641
InParanoidiQ96BF3
KOiK16668
OMAiCQPYITN
OrthoDBiEOG091G0MZN
PhylomeDBiQ96BF3
TreeFamiTF341425

Family and domain databases

Gene3Di2.60.40.10, 1 hit
InterProiView protein in InterPro
IPR007110 Ig-like_dom
IPR036179 Ig-like_dom_sf
IPR013783 Ig-like_fold
IPR003599 Ig_sub
IPR013106 Ig_V-set
PfamiView protein in Pfam
PF07686 V-set, 1 hit
SMARTiView protein in SMART
SM00409 IG, 1 hit
SUPFAMiSSF48726 SSF48726, 1 hit
PROSITEiView protein in PROSITE
PS50835 IG_LIKE, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

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

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

Isoform 1 (identifier: Q96BF3-1) [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
MGSPGMVLGL LVQIWALQEA SSLSVQQGPN LLQVRQGSQA TLVCQVDQAT 
        60         70         80         90        100
AWERLRVKWT KDGAILCQPY ITNGSLSLGV CGPQGRLSWQ APSHLTLQLD 
       110        120        130        140        150
PVSLNHSGAY VCWAAVEIPE LEEAEGNITR LFVDPDDPTQ NRNRIASFPG 
       160        170        180        190        200
FLFVLLGVGS MGVAAIVWGA WFWGRRSCQQ RDSGNSPGNA FYSNVLYRPR 
       210        220        230        240        250
GAPKKSEDCS GEGKDQRGQS IYSTSFPQPA PRQPHLASRP CPSPRPCPSP 
       260        270        280 
RPGHPVSMVR VSPRPSPTQQ PRPKGFPKVG EE
Note: No experimental confirmation available.
Length:282
Mass (Da):30,675
Last modified:February 6, 2007 - v2
Checksum:iAABB3FFD840B44DC
GO
Isoform 2 (identifier: Q96BF3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     186-189: Missing.

Note: No experimental confirmation available.
Show »
Length:278
Mass (Da):30,319
Checksum:iD9E74C79AF4BBAE0
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0B4J2A9A0A0B4J2A9_HUMAN
Transmembrane and immunoglobulin do...
TMIGD2
162Annotation score:
A0A0B4J2B0A0A0B4J2B0_HUMAN
Transmembrane and immunoglobulin do...
TMIGD2
110Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_061328168W → L. Corresponds to variant dbSNP:rs58237134Ensembl.1
Natural variantiVAR_030469202A → P1 PublicationCorresponds to variant dbSNP:rs28477168Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_022967186 – 189Missing in isoform 2. 1 Publication4

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY358964 mRNA Translation: AAQ89323.1
BC015655 mRNA Translation: AAH15655.1
CCDSiCCDS12126.1 [Q96BF3-1]
CCDS59334.1 [Q96BF3-2]
RefSeqiNP_001162597.1, NM_001169126.1 [Q96BF3-2]
NP_001295161.1, NM_001308232.1
NP_653216.2, NM_144615.2 [Q96BF3-1]
UniGeneiHs.263928

Genome annotation databases

EnsembliENST00000301272; ENSP00000301272; ENSG00000167664 [Q96BF3-1]
ENST00000595645; ENSP00000470561; ENSG00000167664 [Q96BF3-2]
GeneIDi126259
KEGGihsa:126259
UCSCiuc002lzx.3 human [Q96BF3-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY358964 mRNA Translation: AAQ89323.1
BC015655 mRNA Translation: AAH15655.1
CCDSiCCDS12126.1 [Q96BF3-1]
CCDS59334.1 [Q96BF3-2]
RefSeqiNP_001162597.1, NM_001169126.1 [Q96BF3-2]
NP_001295161.1, NM_001308232.1
NP_653216.2, NM_144615.2 [Q96BF3-1]
UniGeneiHs.263928

3D structure databases

ProteinModelPortaliQ96BF3
SMRiQ96BF3
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125971, 1 interactor

PTM databases

iPTMnetiQ96BF3
PhosphoSitePlusiQ96BF3
SwissPalmiQ96BF3

Polymorphism and mutation databases

BioMutaiTMIGD2
DMDMi125991218

Proteomic databases

PaxDbiQ96BF3
PeptideAtlasiQ96BF3
PRIDEiQ96BF3
ProteomicsDBi76072
76073 [Q96BF3-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000301272; ENSP00000301272; ENSG00000167664 [Q96BF3-1]
ENST00000595645; ENSP00000470561; ENSG00000167664 [Q96BF3-2]
GeneIDi126259
KEGGihsa:126259
UCSCiuc002lzx.3 human [Q96BF3-1]

Organism-specific databases

CTDi126259
DisGeNETi126259
EuPathDBiHostDB:ENSG00000167664.8
GeneCardsiTMIGD2
H-InvDBiHIX0014660
HGNCiHGNC:28324 TMIGD2
HPAiHPA011081
MIMi614715 gene
neXtProtiNX_Q96BF3
OpenTargetsiENSG00000167664
PharmGKBiPA145148047
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410J9M6 Eukaryota
ENOG41118HW LUCA
GeneTreeiENSGT00390000007100
HOGENOMiHOG000154641
InParanoidiQ96BF3
KOiK16668
OMAiCQPYITN
OrthoDBiEOG091G0MZN
PhylomeDBiQ96BF3
TreeFamiTF341425

Miscellaneous databases

GenomeRNAii126259
PROiPR:Q96BF3
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000167664 Expressed in 190 organ(s), highest expression level in quadriceps femoris
CleanExiHS_TMIGD2
ExpressionAtlasiQ96BF3 baseline and differential
GenevisibleiQ96BF3 HS

Family and domain databases

Gene3Di2.60.40.10, 1 hit
InterProiView protein in InterPro
IPR007110 Ig-like_dom
IPR036179 Ig-like_dom_sf
IPR013783 Ig-like_fold
IPR003599 Ig_sub
IPR013106 Ig_V-set
PfamiView protein in Pfam
PF07686 V-set, 1 hit
SMARTiView protein in SMART
SM00409 IG, 1 hit
SUPFAMiSSF48726 SSF48726, 1 hit
PROSITEiView protein in PROSITE
PS50835 IG_LIKE, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiTMIG2_HUMAN
AccessioniPrimary (citable) accession number: Q96BF3
Secondary accession number(s): Q6UW59
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 6, 2007
Last sequence update: February 6, 2007
Last modified: November 7, 2018
This is version 134 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. 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 19
    Human chromosome 19: entries, gene names and cross-references to MIM
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