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CD101 CD101 molecule [ Homo sapiens (human) ]

Gene ID: 9398, updated on 2-May-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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See CD101 in Genome Data Viewer
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 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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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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