CD101 Gene - Cluster of Differentiation 101

A transmembrane glycoprotein involved in immune regulation and T-cell activation.

Gene Information Card

Symbol CD101
Full Name Cluster of Differentiation 101
Gene Type protein-coding
Chromosomal Location 1p13.1
NCBI Gene ID 9398 ncbi.nlm.nih.gov/gene/9398
Ensembl ID ENSG00000134242
UniProt ID Q93033
OMIM ID 604542
HGNC ID 1690
Aliases V7, IGSF2, P126

Description

CD101 (Cluster of Differentiation 101) is a protein-coding gene located on chromosome 1p13.1. It encodes a type I transmembrane glycoprotein belonging to the immunoglobulin superfamily. CD101 is expressed primarily on activated T cells, monocytes, and dendritic cells, and plays a role in immune regulation, T-cell activation, and costimulation. The gene has been implicated in inflammatory and autoimmune conditions.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Rheumatoid Arthritis CD101 expression on synovial T cells may modulate inflammatory responses. PMID: 11590182
Inflammatory Bowel Disease Altered CD101 expression on intestinal T cells linked to chronic inflammation. PMID: 14608356
HIV Infection CD101 expression on CD4+ T cells correlates with disease progression. PMID: 15356147

Expression Profile

Tissue Expression
Tissue nTPM level
Lymph node 12.5 Medium
Spleen 10.8 Medium
Blood 8.2 Low
Bone marrow 6.1 Low
Lung 2.3 Not detected
Cell Line Expression
Cell Line nTPM Notes
Jurkat (T-cell leukemia) 15.0 High expression
THP-1 (monocytic leukemia) 9.5 Moderate expression
HEK293 (embryonic kidney) 0.5 Very low expression
HeLa (cervical carcinoma) 1.2 Low expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1234C>T missense <0.01% p.Pro412Ser; unknown functional impact
c.56_57del frameshift deletion <0.001% p.Leu19Argfs*5; predicted loss of function
Mutation functional classification

Loss of Function (LOF)

Frameshift deletions (e.g., c.56_57del) are predicted to cause loss of function by truncating the protein.

Gain of Function (GOF)

No gain-of-function mutations have been reported in CD101.

Dominant Negative (DN)

No dominant-negative mutations have been described for CD101.

Pathways

• T cell receptor signaling pathway (Reactome: R-HSA-202403)
• Costimulation by the CD28 family (Reactome: R-HSA-388841)

Protein Summary

The CD101 protein is a 126 kDa type I transmembrane glycoprotein with seven extracellular immunoglobulin-like domains. It is expressed on activated T cells, monocytes, and dendritic cells. CD101 functions as a costimulatory molecule, modulating T-cell receptor signaling and cytokine production. Its expression is upregulated during inflammation and may serve as a marker for certain T-cell subsets.

Related Products

Product name Cat.No. Species Gene ID
CD101 Knockout HEK293 Cell Line EDJ-KQ6585 Human 9398 Details Get a Quote
CD101 Knockout HCT 116 Cell Line EDJ-KQ30807 Human 9398 Details Get a Quote
CD101 Knockout HeLa Cell Line EDJ-KQ55153 Human 9398 Details Get a Quote
CD101 Knockout A-549 Cell Line EDJ-KQ63633 Human 9398 Details Get a Quote
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