Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
920
Gene name Gene Name - the full gene name approved by the HGNC.
CD4 molecule
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CD4
Synonyms (NCBI Gene) Gene synonyms aliases
CD4mut, IMD79, Leu-3, OKT4D, T4
Disease Acronyms (UniProt) Disease acronyms from UniProt database
IMD79
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12p13.31
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
miRTarBase ID miRNA Experiments Reference
MIRT053201 hsa-miR-181a-5p Flow, qRT-PCR, Western 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 factor Regulation Reference
CREB1 Unknown 9765424
EIF2AK2 Unknown 8995707
HES1 Repression 11287612
MAZ Unknown 7760814
MYB Repression 11287612
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
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:0004888 Function Transmembrane signaling receptor activity TAS 10358157
GO:0005201 Function Extracellular matrix structural constituent NAS 12444132
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
186940 1678 ENSG00000010610
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Becker muscular dystrophy Becker Muscular Dystrophy rs104894787, rs1569564916, rs1569546198, rs128626236, rs128626237, rs1556834513, rs2147483647, rs267606771, rs5030730, rs587776747, rs398122853, rs398123935, rs398123954, rs398123985, rs398124002
View all (35 more)
21641384
Duchenne and becker muscular dystrophy Duchenne and Becker Muscular Dystrophy rs794727661, rs1556930579 21641384
Duchenne muscular dystrophy Muscular Dystrophy, Duchenne rs128625226, rs128625227, rs128625228, rs128625229, rs2147483647, rs104894787, rs128625230, rs128626234, rs201366610, rs267606770, rs128626235, rs128626231, rs146071084, rs128626232, rs104894788
View all (641 more)
21641384
Unknown
Disease term Disease name Evidence References Source
Immunodeficiency immunodeficiency 79 GenCC
Associations from Text Mining
Disease Name Relationship Type References
3 Hydroxy 3 Methylglutaryl CoA Lyase Deficiency Associate 18362907
Abdominal Injuries Associate 25458969
Abortion Habitual Associate 25935494, 39941094
Abortion Habitual Inhibit 26345847
Achondroplasia and Swiss type agammaglobulinemia Associate 1373352
Achondroplasia and Swiss type agammaglobulinemia Inhibit 21488866
Acidosis Inhibit 35708739
Acne Vulgaris Associate 33760854
Acquired Immunodeficiency Syndrome Associate 10102648, 10400799, 10691923, 11264355, 11581379, 11696593, 11699717, 11882044, 11967325, 12719578, 1402655, 14557639, 14722279, 14990729, 15194057
View all (43 more)
Acquired Immunodeficiency Syndrome Inhibit 16721821, 1696859, 19703245, 32591400, 33202420, 35758393, 8403502, 8450057, 9878112