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    CD101 CD101 molecule [ Homo sapiens (human) ]

    Gene ID: 9398, updated on 11-Apr-2024

    Summary

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    Official Symbol
    CD101provided by HGNC
    Official Full Name
    CD101 moleculeprovided by HGNC
    Primary source
    HGNC:HGNC:5949
    See related
    Ensembl:ENSG00000134256 MIM:604516; AllianceGenome:HGNC:5949
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    V7; IGSF2; EWI-101
    Summary
    Predicted to enable hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides. Predicted to be involved in cell surface receptor signaling pathway. Predicted to act upstream of or within positive regulation of myeloid leukocyte differentiation. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in small intestine (RPKM 2.3), lung (RPKM 2.1) and 18 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    1p13.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (117001760..117036552)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (117000831..117046977)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (117544382..117579174)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378927 Neighboring gene prostaglandin F2 receptor inhibitor Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:117481416-117481965 Neighboring gene MPRA-validated peak385 silencer Neighboring gene RNA, 5S ribosomal pseudogene 55 Neighboring gene Sharpr-MPRA regulatory region 2959 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:117532703-117533902 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:117560254-117561453 Neighboring gene uncharacterized LOC124904386 Neighboring gene CD101 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1578 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1236 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1579 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:117619501-117620700 Neighboring gene transcription termination factor 2 Neighboring gene microRNA 942 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1237 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1580 Neighboring gene tripartite motif containing 45

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. CD101 genetic variants modify regulatory and conventional T cell phenotypes and functions. Richert-Spuhler LE, et al. Cell Rep Med, 2021 Jun 15. PMID 34195685, Free PMC Article
    2. Brief Report: Bacterial Vaginosis and Risk of HIV Infection in the Context of CD101 Gene Variation. Wanga V, et al. J Acquir Immune Defic Syndr, 2020 Dec 15. PMID 32976203, Free PMC Article
    3. Nucleotide substitutions in CD101, the human homolog of a diabetes susceptibility gene in non-obese diabetic mouse, in patients with type 1 diabetes. Okuno M, et al. J Diabetes Investig, 2017 May. PMID 27888582, Free PMC Article
    4. CD101 expression and function in normal and rheumatoid arthritis-affected human T cells and monocytes/macrophages. Jovanovic DV, et al. J Rheumatol, 2011 Mar. PMID 21159825
    5. CD4+ CD56+ blastic tumor cells express CD101 molecules. Meyer N, et al. J Invest Dermatol, 2005 Mar. PMID 15737213

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CD101 genetic variants modify regulatory and conventional T cell phenotypes and functions.
      Title: CD101 genetic variants modify regulatory and conventional T cell phenotypes and functions.
    2. Brief Report: Bacterial Vaginosis and Risk of HIV Infection in the Context of CD101 Gene Variation.
      Title: Brief Report: Bacterial Vaginosis and Risk of HIV Infection in the Context of CD101 Gene Variation.
    3. Study shows nucleotide substitutions in CD101, the human homolog of a diabetes susceptibility gene in non-obese diabetic mouse, in patients with type 1 diabetes. The results raise the possibility that CD101 is a susceptibility gene for type 1 diabetes.
      Title: Nucleotide substitutions in CD101, the human homolog of a diabetes susceptibility gene in non-obese diabetic mouse, in patients with type 1 diabetes.
    4. variants in CD101 and UBE2V1 associated with increased risk of sexually acquired HIV-1
      Title: Whole genome sequencing of extreme phenotypes identifies variants in CD101 and UBE2V1 associated with increased risk of sexually acquired HIV-1.
    5. In patients with intestinal bowel disease, a reduced CD101 expression on peripheral and intestinal monocytes and CD4-positive Tcells correlated with enhanced IL-17 production and disease activity.
      Title: CD101 inhibits the expansion of colitogenic T cells.
    6. Low expression of CD39(+) /CD45RA(+) on regulatory T cells (Treg ) cells in type 1 diabetic children in contrast to high expression of CD101(+) /CD129(+) on Treg cells in children with coeliac disease.
      Title: Low expression of CD39(+) /CD45RA(+) on regulatory T cells (Treg ) cells in type 1 diabetic children in contrast to high expression of CD101(+) /CD129(+) on Treg cells in children with coeliac disease.
    7. Single Nucleotide Polymorphism in CD101 gene may be associated with pancreatic cancer.
      Title: Inflammation-related gene variants as risk factors for pancreatic cancer.
    8. Results suggest a possible role for CD101 expression and function in the control of certain manifestations of rheumatoid arthritis pathology.
      Title: CD101 expression and function in normal and rheumatoid arthritis-affected human T cells and monocytes/macrophages.
    9. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants at CD28, PRDM1 and CD2/CD58 are associated with rheumatoid arthritis risk.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Envelope transmembrane glycoprotein gp41 env A synthetic peptide corresponding to the immunosuppressive domain (amino acids 574-592) of HIV-1 gp41 downregulates the expression of CD101 (IGSF2) in peptide-treated PBMCs PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in cell surface receptor signaling pathway TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of myeloid leukocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular exosome HDA PubMed 
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    immunoglobulin superfamily member 2
    Names
    cell surface glycoprotein V7
    glu-Trp-Ile EWI motif-containing protein 101
    leukocyte surface protein

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001256106.3 → NP_001243035.1  immunoglobulin superfamily member 2 isoform 1 precursor

      See identical proteins and their annotated locations for NP_001243035.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 3' UTR, compared to variant 1. Variants 1, 2 and 3 all encode isoform 1.
      Source sequence(s)
      AL445231
      Consensus CDS
      CCDS891.1
      UniProtKB/Swiss-Prot
      Q15856, Q93033
      Related
      ENSP00000508039.1, ENST00000682167.1
      Conserved Domains (2) summary
      smart00410
      Location:87 → 142
      IG_like; Immunoglobulin like
      cl11960
      Location:19 → 142
      Ig; Immunoglobulin domain

    2. NM_001256109.3 → NP_001243038.1  immunoglobulin superfamily member 2 isoform 1 precursor

      See identical proteins and their annotated locations for NP_001243038.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in the 3' UTR, compared to variant 1. Variants 1, 2 and 3 all encode isoform 1.
      Source sequence(s)
      AL445231
      Consensus CDS
      CCDS891.1
      UniProtKB/Swiss-Prot
      Q15856, Q93033
      Related
      ENSP00000358482.1, ENST00000369470.1
      Conserved Domains (2) summary
      smart00410
      Location:87 → 142
      IG_like; Immunoglobulin like
      cl11960
      Location:19 → 142
      Ig; Immunoglobulin domain

    3. NM_001256111.3 → NP_001243040.1  immunoglobulin superfamily member 2 isoform 2 precursor

      See identical proteins and their annotated locations for NP_001243040.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses an alternate in-frame splice site in the 5' coding region, and also an alternate splice site in the 3' UTR, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AL445231
      Conserved Domains (2) summary
      smart00410
      Location:762 → 849
      IG_like; Immunoglobulin like
      cl11960
      Location:759 → 849
      Ig; Immunoglobulin domain

    4. NM_004258.6 → NP_004249.2  immunoglobulin superfamily member 2 isoform 1 precursor

      See identical proteins and their annotated locations for NP_004249.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Variants 1, 2 and 3 all encode isoform 1.
      Source sequence(s)
      AL445231
      Consensus CDS
      CCDS891.1
      UniProtKB/Swiss-Prot
      Q15856, Q93033
      Conserved Domains (2) summary
      smart00410
      Location:87 → 142
      IG_like; Immunoglobulin like
      cl11960
      Location:19 → 142
      Ig; Immunoglobulin domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      117001760..117036552
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047434715.1 → XP_047290671.1  immunoglobulin superfamily member 2 isoform X1

      Related
      ENSP00000256652.4, ENST00000256652.8

    2. XM_047434718.1 → XP_047290674.1  immunoglobulin superfamily member 2 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      117000831..117046977
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054339677.1 → XP_054195652.1  immunoglobulin superfamily member 2 isoform X2

    2. XM_054339676.1 → XP_054195651.1  immunoglobulin superfamily member 2 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q93033.2 GenPept UniProtKB/Swiss-Prot:Q93033

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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