CD276

CD276 molecule, the group of V-set domain containing|CD molecules|C2-set domain containing|B7 family

Basic information

Region (hg38): 15:73683966-73714514

Links

ENSG00000103855

∙ NCBI:80381 ∙ OMIM:605715 ∙ HGNC:19137 ∙ Uniprot:Q5ZPR3 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CD276 gene.

not_specified (95 variants)
not_provided (3 variants)
Long_QT_syndrome (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CD276 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001024736.2. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous					1 clinvar	1
missense			93 clinvar	3 clinvar		96
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	93	3	1

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CD276	protein_coding	protein_coding	ENST00000318443	9	30553

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.47e-9	0.466	125552	0	196	125748	0.000780

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0486	342	345	0.993	0.0000225	3432
Missense in Polyphen		129	138.37	0.93228		1413
Synonymous	-1.79	185	157	1.18	0.0000111	1131
Loss of Function	1.04	16	21.2	0.756	9.15e-7	222

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00166	0.00165
Ashkenazi Jewish	0.00	0.00
East Asian	0.00103	0.00103
Finnish	0.00167	0.00166
European (Non-Finnish)	0.000609	0.000607
Middle Eastern	0.00103	0.00103
South Asian	0.00101	0.00101
Other	0.000653	0.000652

dbNSFP

Source: dbNSFP

Function: FUNCTION: May participate in the regulation of T-cell-mediated immune response. May play a protective role in tumor cells by inhibiting natural-killer mediated cell lysis as well as a role of marker for detection of neuroblastoma cells. May be involved in the development of acute and chronic transplant rejection and in the regulation of lymphocytic activity at mucosal surfaces. Could also play a key role in providing the placenta and fetus with a suitable immunological environment throughout pregnancy. Both isoform 1 and isoform 2 appear to be redundant in their ability to modulate CD4 T-cell responses. Isoform 2 is shown to enhance the induction of cytotoxic T-cells and selectively stimulates interferon gamma production in the presence of T-cell receptor signaling. {ECO:0000269|PubMed:11224528, ECO:0000269|PubMed:12906861, ECO:0000269|PubMed:14764704, ECO:0000269|PubMed:15314238, ECO:0000269|PubMed:15682454, ECO:0000269|PubMed:15961727}.;
Pathway: Cell adhesion molecules (CAMs) - Homo sapiens (human) (Consensus)

Recessive Scores

pRec: 0.148

Intolerance Scores

loftool: 0.838
rvis_EVS: 0.45
rvis_percentile_EVS: 78.02

Haploinsufficiency Scores

pHI: 0.0977
hipred: N
hipred_score: 0.146
ghis: 0.535

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.707

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

Mouse Genome Informatics

Gene name: Cd276
Phenotype: skeleton phenotype; immune system phenotype; hematopoietic system phenotype;

Gene ontology

Biological process: immune response;cell population proliferation;positive regulation of T cell proliferation;T cell activation;positive regulation of interferon-gamma biosynthetic process;regulation of immune response;T cell receptor signaling pathway
Cellular component: external side of plasma membrane;integral component of membrane
Molecular function: signaling receptor binding;protein binding