Aliases for CD101 Gene

Aliases for CD101 Gene

  • CD101 Molecule 2 3 5
  • V7 2 3 4
  • Glu-Trp-Ile EWI Motif-Containing Protein 101 3 4
  • Immunoglobulin Superfamily Member 2 3 4
  • Cell Surface Glycoprotein V7 3 4
  • EWI-101 3 4
  • IGSF2 3 4
  • Immunoglobulin Superfamily, Member 2 2
  • Leukocyte Surface Protein 3
  • CD101 Antigen 4
  • EWI101 4
  • CD101 5
  • IgSF2 4

External Ids for CD101 Gene

Previous HGNC Symbols for CD101 Gene

  • IGSF2

Previous GeneCards Identifiers for CD101 Gene

  • GC01P117345
  • GC01P117545
  • GC01P115403

Summaries for CD101 Gene

GeneCards Summary for CD101 Gene

CD101 (CD101 Molecule) is a Protein Coding gene. Diseases associated with CD101 include Langerhans Cell Histiocytosis and Histiocytosis. Among its related pathways are Innate Immune System and Translocation of ZAP-70 to Immunological synapse. Gene Ontology (GO) annotations related to this gene include hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides. An important paralog of this gene is IGSF3.

UniProtKB/Swiss-Prot Summary for CD101 Gene

  • Plays a role as inhibitor of T-cells proliferation induced by CD3. Inhibits expression of IL2RA on activated T-cells and secretion of IL2. Inhibits tyrosine kinases that are required for IL2 production and cellular proliferation. Inhibits phospholipase C-gamma-1/PLCG1 phosphorylation and subsequent CD3-induced changes in intracellular free calcium. Prevents nuclear translocation of nuclear factor of activated T-cell to the nucleus. Plays a role in the inhibition of T-cell proliferation via IL10 secretion by cutaneous dendritic cells. May be a marker of CD4(+) CD56(+) leukemic tumor cells.

Gene Wiki entry for CD101 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CD101 Gene

Genomics for CD101 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CD101 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J117000 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 265.4 +14.3 14325 4.2 BCL11A TRIM22 IRF4 EBF1 SMARCA5 CBFB SPI1 BATF IKZF1 CEBPG CD101 PTGFRN HSALNG0006360 TTF2
GH01J116986 Promoter/Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 269 +1.2 1249 5.7 IKZF1 BHLHE40 ZIC2 REST VEZF1 FOSL1 SPI1 HDAC2 POLR2A FOXA1 CD101 PTGFRN CD58 lnc-CD101-1 HSALNG0006360 TTF2
GH01J116877 Enhancer 1.4 FANTOM5 ENCODE CraniofacialAtlas 10.3 -109.3 -109290 3.1 ZSCAN16 ZBTB10 FEZF1 MNT IKZF1 MBD2 ZNF217 SIX4 BHLHE40 ZEB1 LOC105378927 ATP1A1-AS1 MAN1A2 PTGFRN CD2 CD101 TRIM45 TTF2 piR-38129-008 lnc-PTGFRN-1
GH01J116885 Enhancer 0.7 Ensembl ENCODE 18.5 -101.2 -101244 1.7 ZNF341 ZNF362 ATF2 ZBTB21 ZNF629 EGR2 ATF7 ZFHX2 ZNF600 CD101 PTGFRN CD2 LINC02868 RF00017-303 LOC105378927 lnc-PTGFRN-1
GH01J116852 Enhancer 1.5 Ensembl ENCODE CraniofacialAtlas dbSUPER 8.4 -133.3 -133307 5.4 FEZF1 CEBPA ZNF217 ELF1 ZIC2 ZNF610 REST MBD2 CUX1 FOXA2 PTGFRN CD2 MIR320B1 IGSF3 CD101 piR-30188-010 piR-35031-003 lnc-PTGFRN-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CD101 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CD101

Genomic Locations for CD101 Gene

Latest Assembly
chr1:116,987,997-117,037,481
(GRCh38/hg38)
Size:
49,485 bases
Orientation:
Plus strand

Previous Assembly
chr1:117,544,382-117,579,174
(GRCh37/hg19 by Entrez Gene)
Size:
34,793 bases
Orientation:
Plus strand

chr1:117,544,382-117,579,167
(GRCh37/hg19 by Ensembl)
Size:
34,786 bases
Orientation:
Plus strand

Genomic View for CD101 Gene

Genes around CD101 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CD101 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CD101 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CD101 Gene

Proteins for CD101 Gene

  • Protein details for CD101 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q93033-IGSF2_HUMAN
    Recommended name:
    Immunoglobulin superfamily member 2
    Protein Accession:
    Q93033
    Secondary Accessions:
    • Q15856

    Protein attributes for CD101 Gene

    Size:
    1021 amino acids
    Molecular mass:
    115109 Da
    Quaternary structure:
    No Data Available

neXtProt entry for CD101 Gene

Post-translational modifications for CD101 Gene

  • N-glycosylated.
  • Glycosylation at Asn44, Asn322, Asn598, Asn721, Asn788, and Asn823
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CD101 Gene

Domains & Families for CD101 Gene

Gene Families for CD101 Gene

Protein Domains for CD101 Gene

Suggested Antigen Peptide Sequences for CD101 Gene

GenScript: Design optimal peptide antigens:
  • Glu-Trp-Ile EWI motif-containing protein 101 (IGSF2_HUMAN)
genes like me logo Genes that share domains with CD101: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CD101 Gene

Function for CD101 Gene

Molecular function for CD101 Gene

UniProtKB/Swiss-Prot Function:
Plays a role as inhibitor of T-cells proliferation induced by CD3. Inhibits expression of IL2RA on activated T-cells and secretion of IL2. Inhibits tyrosine kinases that are required for IL2 production and cellular proliferation. Inhibits phospholipase C-gamma-1/PLCG1 phosphorylation and subsequent CD3-induced changes in intracellular free calcium. Prevents nuclear translocation of nuclear factor of activated T-cell to the nucleus. Plays a role in the inhibition of T-cell proliferation via IL10 secretion by cutaneous dendritic cells. May be a marker of CD4(+) CD56(+) leukemic tumor cells.

Phenotypes From GWAS Catalog for CD101 Gene

Gene Ontology (GO) - Molecular Function for CD101 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016812 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides IEA --
genes like me logo Genes that share ontologies with CD101: view
genes like me logo Genes that share phenotypes with CD101: view

Animal Models for CD101 Gene

MGI Knock Outs for CD101:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CD101

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CD101 Gene

Localization for CD101 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CD101 Gene

Membrane. Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CD101 gene
Compartment Confidence
plasma membrane 5
extracellular 4
peroxisome 2
cytoskeleton 1
mitochondrion 1
nucleus 1
cytosol 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CD101 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS 7722300
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane TAS,IBA 21873635
GO:0070062 extracellular exosome HDA 20458337
genes like me logo Genes that share ontologies with CD101: view

Pathways & Interactions for CD101 Gene

genes like me logo Genes that share pathways with CD101: view

Pathways by source for CD101 Gene

Interacting Proteins for CD101 Gene

STRING Interaction Network Preview (showing top 5 STRING interactants - click image to see top 25)
STRING Interaction Network
Selected Interacting proteins: ENSP00000358482 Q93033-IGSF2_HUMAN for CD101 Gene via STRING IID

Gene Ontology (GO) - Biological Process for CD101 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002763 positive regulation of myeloid leukocyte differentiation IEA --
GO:0007166 cell surface receptor signaling pathway TAS 7722300
genes like me logo Genes that share ontologies with CD101: view

No data available for SIGNOR curated interactions for CD101 Gene

Drugs & Compounds for CD101 Gene

(1) Drugs for CD101 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Nutra 6876
genes like me logo Genes that share compounds with CD101: view

Transcripts for CD101 Gene

mRNA/cDNA for CD101 Gene

4 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CD101

Alternative Splicing Database (ASD) splice patterns (SP) for CD101 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b · 11c
SP1: - -
SP2:

Relevant External Links for CD101 Gene

GeneLoc Exon Structure for
CD101

Expression for CD101 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CD101 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CD101 Gene

This gene is overexpressed in Whole Blood (x8.0).

Protein differential expression in normal tissues from HIPED for CD101 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (21.8), Lymph node (15.2), Pancreatic juice (7.7), CD8 Tcells (7.1), and Monocytes (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CD101 Gene



Protein tissue co-expression partners for CD101 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CD101

SOURCE GeneReport for Unigene cluster for CD101 Gene:

Hs.654598

mRNA Expression by UniProt/SwissProt for CD101 Gene:

Q93033-IGSF2_HUMAN
Tissue specificity: Expressed in lung, thymus and small intestine. Detected in cutaneous dendritic cells, activated T-cells, monocytes and granulocytes as well as with epithelial cells with dendritic morphology. Expressed in some leukemic cells, the CD4(+) CD56(+) blastic tumor cells, as well as in Langerhans cells from LCH (Langerhans cell histiocytosis) patients.

Evidence on tissue expression from TISSUES for CD101 Gene

  • Blood(2.2)
genes like me logo Genes that share expression patterns with CD101: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CD101 Gene

Orthologs for CD101 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CD101 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CD101 30 31
  • 98.92 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CD101 30 31
  • 83.1 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CD101 30 31
  • 83.02 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Cd101 30 17 31
  • 79.4 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cd101 30
  • 78.87 (n)
Oppossum
(Monodelphis domestica)
Mammalia CD101 31
  • 57 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CD101 31
  • 40 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CD101 31
  • 37 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CD101 31
  • 39 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii zgc:91849 31
  • 29 (a)
ManyToMany
CABZ01067072.1 31
  • 21 (a)
ManyToMany
Species where no ortholog for CD101 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for CD101 Gene

ENSEMBL:
Gene Tree for CD101 (if available)
TreeFam:
Gene Tree for CD101 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CD101: view image

Paralogs for CD101 Gene

Paralogs for CD101 Gene

(2) SIMAP similar genes for CD101 Gene using alignment to 1 proteins:

  • IGSF2_HUMAN

Pseudogenes.org Pseudogenes for CD101 Gene

genes like me logo Genes that share paralogs with CD101: view

Variants for CD101 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CD101 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs116063197 Benign: not provided 117,018,408(+) G/A
NM_001256106.2(CD101):c.1865G>A (p.Arg622His)
MISSENSE
rs12093834 Benign: not provided. - 117,025,878(+) G/Ap.Arg933Gln
NM_001256106.2(CD101):c.2798G>A (p.Arg933Gln)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
rs138020050 Benign: not provided 117,025,888(+) C/A
NM_001256106.2(CD101):c.2808C>A (p.Leu936=)
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS
rs141474998 Likely Benign: not provided 117,021,666(+) A/G
NM_001256106.2(CD101):c.2111A>G (p.Asn704Ser)
MISSENSE
rs147095176 Likely Benign: not provided 117,013,503(+) A/G
NM_001256106.2(CD101):c.939A>G (p.Pro313=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CD101 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CD101 Gene

Variant ID Type Subtype PubMed ID
nsv517575 CNV loss 19592680
nsv831159 CNV loss 17160897

Variation tolerance for CD101 Gene

Residual Variation Intolerance Score: 90.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.91; 67.74% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CD101 Gene

Human Gene Mutation Database (HGMD)
CD101
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CD101

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CD101 Gene

Disorders for CD101 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CD101 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
langerhans cell histiocytosis
  • lch
histiocytosis
  • chronic histiocytosis x
- elite association - COSMIC cancer census association via MalaCards
Search CD101 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CD101

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with CD101: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CD101 Gene

Publications for CD101 Gene

  1. V7, a novel leukocyte surface protein that participates in T cell activation. II. Molecular cloning and characterization of the V7 gene. (PMID: 7722300) Ruegg CL … Engleman EG (Journal of immunology (Baltimore, Md. : 1950) 1995) 2 3 4
  2. CD4+ CD56+ blastic tumor cells express CD101 molecules. (PMID: 15737213) Meyer N … Bagot M (The Journal of investigative dermatology 2005) 3 4
  3. EWI-2 is a major CD9 and CD81 partner and member of a novel Ig protein subfamily. (PMID: 11504738) Stipp CS … Hemler ME (The Journal of biological chemistry 2001) 3 4
  4. CD101 expression by Langerhans cell histiocytosis cells. (PMID: 10692025) Bouloc A … Bagot M (Histopathology 2000) 3 4
  5. Triggering CD101 molecule on human cutaneous dendritic cells inhibits T cell proliferation via IL-10 production. (PMID: 11093127) Bouloc A … Boumsell L (European journal of immunology 2000) 3 4

Products for CD101 Gene

Sources for CD101 Gene