Gene Gene information from NCBI Gene database.
Entrez ID 920
Gene name CD4 molecule
Gene symbol CD4
Synonyms (NCBI Gene)
CD4mutIMD79Leu-3OKT4DT4
Chromosome 12
Chromosome location 12p13.31
Summary This gene encodes the CD4 membrane glycoprotein of T lymphocytes. The CD4 antigen acts as a coreceptor with the T-cell receptor on the T lymphocyte to recognize antigens displayed by an antigen presenting cell in the context of class II MHC molecules. The
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs28919570 C>T Conflicting-interpretations-of-pathogenicity Missense variant, 5 prime UTR variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
111
miRTarBase ID miRNA Experiments Reference
MIRT053201 hsa-miR-181a-5p FlowqRT-PCRWestern blot 23393335
MIRT720059 hsa-miR-4713-3p HITS-CLIP 19536157
MIRT720058 hsa-miR-638 HITS-CLIP 19536157
MIRT720057 hsa-miR-450b-3p HITS-CLIP 19536157
MIRT720056 hsa-miR-769-3p HITS-CLIP 19536157
Transcription factors Transcription factors information provided by TRRUST V2 database.
6
Transcription factor Regulation Reference
CREB1 Unknown 9765424
EIF2AK2 Unknown 8995707
HES1 Repression 11287612
MAZ Unknown 7760814
MYB Repression 11287612
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
86
GO ID Ontology Definition Evidence Reference
GO:0001618 Function Virus receptor activity IDA 9641677
GO:0001618 Function Virus receptor activity IEA
GO:0001934 Process Positive regulation of protein phosphorylation IDA 24942581
GO:0002250 Process Adaptive immune response IEA
GO:0002376 Process Immune system process IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
186940 1678 ENSG00000010610
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P01730
Protein name T-cell surface glycoprotein CD4 (T-cell surface antigen T4/Leu-3) (CD antigen CD4)
Protein function Integral membrane glycoprotein that plays an essential role in the immune response and serves multiple functions in responses against both external and internal offenses. In T-cells, functions primarily as a coreceptor for MHC class II molecule:
PDB 1CDH , 1CDI , 1CDJ , 1CDU , 1CDY , 1G9M , 1G9N , 1GC1 , 1JL4 , 1Q68 , 1RZJ , 1RZK , 1WBR , 1WIO , 1WIP , 1WIQ , 2B4C , 2JKR , 2JKT , 2KLU , 2NXY , 2NXZ , 2NY0 , 2NY1 , 2NY2 , 2NY3 , 2NY4 , 2NY5 , 2NY6 , 2QAD , 3B71 , 3CD4 , 3J70 , 3JCB , 3JCC , 3JWD , 3JWO , 3LQA , 3O2D , 3S4S , 3S5L , 3T0E , 4H8W , 4JM2 , 4P9H , 4Q6I , 4R2G , 4R4H , 4RQS , 5A7X , 5A8H
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00047 ig 24 123 Immunoglobulin domain Domain
PF05790 C2-set 125 203 Immunoglobulin C2-set domain Domain
PF09191 CD4-extracel 206 316 CD4, extracellular Domain
PF05790 C2-set 317 390 Immunoglobulin C2-set domain Domain
PF12104 Tcell_CD4_C 425 453 T cell CD4 receptor C terminal region Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in T-helper cells. The presence of CD4 is a hallmark of T-helper cells which are specialized in the activation and growth of cytotoxic T-cells, regulation of B cells, or activation of phagocytes. CD4 is also present in
Sequence
Sequence length 458
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Viral life cycle - HIV-1
Virion - Human immunodeficiency virus
Cytokine-cytokine receptor interaction
Cell adhesion molecules
Antigen processing and presentation
Hematopoietic cell lineage
Th1 and Th2 cell differentiation
Th17 cell differentiation
T cell receptor signaling pathway
Yersinia infection
Human T-cell leukemia virus 1 infection
Human immunodeficiency virus 1 infection
PD-L1 expression and PD-1 checkpoint pathway in cancer
Primary immunodeficiency
  Alpha-defensins
Nef Mediated CD4 Down-regulation
Binding and entry of HIV virion
Vpu mediated degradation of CD4
Downstream TCR signaling
Phosphorylation of CD3 and TCR zeta chains
Translocation of ZAP-70 to Immunological synapse
Generation of second messenger molecules
PD-1 signaling
Other interleukin signaling
Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Immunodeficiency 79 Pathogenic rs782212142, rs200294737 RCV001353064
RCV001353065
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CD4-related disorder Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GRAVES DISEASE CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Okt4 epitope deficiency Uncertain significance; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
3 Hydroxy 3 Methylglutaryl CoA Lyase Deficiency Associate 18362907
★☆☆☆☆
Found in Text Mining only
Abdominal Injuries Associate 25458969
★☆☆☆☆
Found in Text Mining only
Abortion Habitual Associate 25935494, 39941094
★☆☆☆☆
Found in Text Mining only
Abortion Habitual Inhibit 26345847
★☆☆☆☆
Found in Text Mining only
Achondroplasia and Swiss type agammaglobulinemia Associate 1373352
★☆☆☆☆
Found in Text Mining only
Achondroplasia and Swiss type agammaglobulinemia Inhibit 21488866
★☆☆☆☆
Found in Text Mining only
Acidosis Inhibit 35708739
★☆☆☆☆
Found in Text Mining only
Acne Vulgaris Associate 33760854
★☆☆☆☆
Found in Text Mining only
Acquired Immunodeficiency Syndrome Associate 10102648, 10400799, 10691923, 11264355, 11581379, 11696593, 11699717, 11882044, 11967325, 12719578, 1402655, 14557639, 14722279, 14990729, 15194057
View all (43 more)
★☆☆☆☆
Found in Text Mining only
Acquired Immunodeficiency Syndrome Inhibit 16721821, 1696859, 19703245, 32591400, 33202420, 35758393, 8403502, 8450057, 9878112
★☆☆☆☆
Found in Text Mining only