CD96

Chr 3

CD96 molecule

Also known as: TACTILE

NCBI Gene: 10225ENSG00000153283UniProt: P40200

The protein encoded by this gene belongs to the immunoglobulin superfamily. It is a type I membrane protein. The protein may play a role in the adhesive interactions of activated T and NK cells during the late phase of the immune response. It may also function in antigen presentation. Alternative splicing generates multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2016]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtC syndrome

Clinical highlights

Gene-disease validity (ClinGen)
C syndrome · ADLimitednot for standalone diagnostic reporting
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
11
Active trials
54
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.97
LOEUF
LOF*
Mechanism· G2P
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.97LOEUF
pLI 0.000
Z-score 1.69
OE 0.68 (0.48–0.97)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-0.47Z-score
OE missense 1.08 (0.98–1.18)
329 obs / 306.0 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.68 (0.48–0.97)
0≤0.351.4
Missense OE?1.08 (0.98–1.18)
0≤0.61.4
Synonymous OE?1.15
0≤1.21.6
LoF obs/exp: 22 / 32.4Missense obs/exp: 329 / 306.0Syn Z: -1.21

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CD96 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov
Adverse Childhood ExperiencesDevelopmental RiskPsychomotor Development Disorders

Growing Up in Multifactorial Risk Conditions

ENROLLING BY INVITATION
NCT07477899Phase NAIRCCS Eugenio MedeaStarted 2024-06-26
Home visiting programme
Rejection; Transplant, Liver

Transcriptomics as an Aid in the Histological Diagnosis of Acute Rejection After Liver Transplantation

RECRUITING
NCT06734013Phase NAIRCCS Azienda Ospedaliero-Universitaria di BolognaStarted 2024-10-17
Molecular diagnostic
Chronic Low Back Pain (CLBP)Acute Low Back PainLow Back Pain

Multimodal Imaging and Biospecimen Collection for Low Back Pain (LBPB)

NOT YET RECRUITING
NCT06967363Peking University Third HospitalStarted 2025-05-15
Nerve Blockendoscopic spinal disecetomyMedication
Pain, PostoperativeExcavatum, PectusScoliosis Idiopathic

Comprehensive Study of Post-surgical Pain After Pectus or Spine Surgery

ACTIVE NOT RECRUITING
NCT04031716Phase NAChildren's Hospital Medical Center, CincinnatiStarted 2018-07-06
Meditation
Healthy

Mapping the Impact of Gut Microbiota on Brain and Behavior Through the Lens of GABA

RECRUITING
NCT05698862Phase NAUniversity of ReadingStarted 2022-05-21
ProbioticPlacebo
7q11.23 Microduplication Syndrome (7DUP)Autism Spectrum Disorder (ASD)Neurodevelopmental Disorders (NDD)

Characterization of the Natural History of Microduplication Syndrome 7q11.23

RECRUITING
NCT07469566Phase NAHospices Civils de LyonStarted 2026-07-15
clinical assessmentParental questionnairesCognitive assessment
Spinal Muscular Atrophy (SMA)

Neuroproprioceptive Equine-Assisted Physiotherapy for Spinal Muscular Atrophy

NOT YET RECRUITING
NCT07336602Phase NACharles University, Czech RepublicStarted 2026-04-15
Equine-Assisted Physiotherapy based on Neuro-proprioceptive "Facilitation and Inhibition"Standard Individual Outpatient Physiotherapy Based on Neuro-proprioceptive Facilitation and InhibitionTherapeutic grooming
InsomniaCardiorespiratory FitnessMetabolic Disease

Insomnia´s Impact on DNA Stability, Cardio-metabolic Health and Lifestyle Behaviors

RECRUITING
NCT06869486Universidad Autonoma de Baja CaliforniaStarted 2024-10-01
ExerciseBioelectrical ImpedanceMicronucleus Assay
MigraineCluster HeadacheTrigeminal Autonomic Cephalgia

Pain Biomarker Study

ENROLLING BY INVITATION
NCT03511846Phase PHASE1The University of Texas Health Science Center, HoustonStarted 2018-03-21
Oral capsaicinTopical capsaicinIntranasal capsaicin
Alzheimer DiseaseAlzheimer Disease, Early OnsetAlzheimer Disease, Late Onset

Chronic Treatment of Alzheimer's Disease by Gamma Light and Sound Therapy

RECRUITING
NCT05655195Phase NAMassachusetts Institute of TechnologyStarted 2022-12-14
GENUS device (Active Settings)GENUS device (sham settings)
Visible Skin Aging SignsWrinkles and Folds in Lower FaceSkin Ageing

Efficacy of a Combined Oral and Topical Collagen Regimen Compared to Topical Collagen or Oral Collagen Regimens in Women With Skin Ageing Signs

NOT YET RECRUITING
NCT07473037Phase NAVichy LaboratoiresStarted 2026-03-15
Oral collagentopical application of collagen serum

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients