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 CD4 antigen is also a primary receptor for entry of the human immunodeficiency virus through interactions with the HIV Env g... See more...

Aliases for CD4 Gene

Aliases for CD4 Gene

  • CD4 Molecule 2 3 5
  • T-Cell Surface Glycoprotein CD4 2 3 4
  • T-Cell Surface Antigen T4/Leu-3 3 4
  • CD4 Antigen (P55) 2 3
  • CD4 Receptor 3
  • CD4 Antigen 4
  • CD4mut 3
  • CD4 5

External Ids for CD4 Gene

Previous GeneCards Identifiers for CD4 Gene

  • GC12M007045
  • GC12M007130
  • GC12P006777
  • GC12P006769
  • GC12P006899

Summaries for CD4 Gene

Entrez Gene Summary for CD4 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 CD4 antigen is also a primary receptor for entry of the human immunodeficiency virus through interactions with the HIV Env gp120 subunit. This gene is expressed not only in T lymphocytes, but also in B cells, macrophages, granulocytes, as well as in various regions of the brain. The protein functions to initiate or augment the early phase of T-cell activation, and may function as an important mediator of indirect neuronal damage in infectious and immune-mediated diseases of the central nervous system. Multiple alternatively spliced transcript variants encoding different isoforms have been identified in this gene. [provided by RefSeq, May 2020]

GeneCards Summary for CD4 Gene

CD4 (CD4 Molecule) is a Protein Coding gene. Diseases associated with CD4 include Okt4 Epitope Deficiency and Human Immunodeficiency Virus Infectious Disease. Among its related pathways are TCR signaling in naive CD4+ T cells and Notch-mediated HES/HEY network. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and enzyme binding.

UniProtKB/Swiss-Prot Summary for CD4 Gene

  • 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:peptide complex. The antigens presented by class II peptides are derived from extracellular proteins while class I peptides are derived from cytosolic proteins. Interacts simultaneously with the T-cell receptor (TCR) and the MHC class II presented by antigen presenting cells (APCs). In turn, recruits the Src kinase LCK to the vicinity of the TCR-CD3 complex. LCK then initiates different intracellular signaling pathways by phosphorylating various substrates ultimately leading to lymphokine production, motility, adhesion and activation of T-helper cells. In other cells such as macrophages or NK cells, plays a role in differentiation/activation, cytokine expression and cell migration in a TCR/LCK-independent pathway. Participates in the development of T-helper cells in the thymus and triggers the differentiation of monocytes into functional mature macrophages.
  • (Microbial infection) Primary receptor for human immunodeficiency virus-1 (HIV-1) (PubMed:2214026, PubMed:16331979, PubMed:9641677, PubMed:12089508). Down-regulated by HIV-1 Vpu (PubMed:17346169). Acts as a receptor for Human Herpes virus 7/HHV-7 (PubMed:7909607).

Gene Wiki entry for CD4 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CD4 Gene

Genomics for CD4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CD4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J006788 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 271.3 +4.1 4143 5.6 MXD4 HOMEZ KDM6A THAP11 SIN3A FOXA2 SMAD4 SAP130 MIER3 ETV4 CD4 HSALNG0088911 LPAR5 GPR162 P3H3 PTPN6 ING4 PTMS MLF2 GNB3
GH12J006784 Promoter/Enhancer 1 Ensembl ENCODE dbSUPER 266.8 -0.9 -943 3.3 MAFF ZNF341 ZNF316 MAFK MAFG ZFHX2 ZNF223 EMSY CD4 HSALNG0088910 RN7SL380P lnc-MLF2-1 GPR162 P3H3 ZNF384 ENSG00000219410 ING4 ACRBP
GH12J006787 Promoter/Enhancer 0.8 Ensembl dbSUPER 250.7 +0.9 943 0.4 ZNF316 MAFG MAFF MAFK EMSY CD4 HSALNG0088911 GPR162
GH12J006722 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 11.7 -62.7 -62657 2.8 TBP SP1 ZBTB10 MXD4 FEZF1 NR2C1 MNT IKZF1 SMAD5 ETS1 COPS7A ENSG00000270068 HSALNG0088898 lnc-PIANP-4 ZNF384 ENSG00000219410 NOP2 CHD4 ENSG00000247853 SPSB2
GH12J006735 Enhancer 0.9 Ensembl ENCODE 11.6 -49.8 -49821 3.5 IKZF1 CTCF REST NBN SMC3 RAD21 ZFP91 ZNF316 NFE2 NFE2L2 HSALNG0088899 lnc-COPS7A-2 PTMS MLF2 LAG3 CD4 GPR162 P3H3 ENSG00000219410 ING4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CD4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CD4

Top Transcription factor binding sites by QIAGEN in the CD4 gene promoter:
  • AP-2alpha
  • AP-2alpha isoform 2
  • AP-2alpha isoform 3
  • AP-2alpha isoform 4
  • AP-2alphaA
  • p300
  • STAT3
  • TBP
  • TFIID

Genomic Locations for CD4 Gene

Latest Assembly
chr12:6,786,858-6,820,799
(GRCh38/hg38)
Size:
33,942 bases
Orientation:
Plus strand

Previous Assembly
chr12:6,898,694-6,929,965
(GRCh37/hg19 by Entrez Gene)
Size:
31,272 bases
Orientation:
Plus strand

chr12:6,896,024-6,929,974
(GRCh37/hg19 by Ensembl)
Size:
33,951 bases
Orientation:
Plus strand

Genomic View for CD4 Gene

Genes around CD4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CD4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CD4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CD4 Gene

Proteins for CD4 Gene

  • Protein details for CD4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P01730-CD4_HUMAN
    Recommended name:
    T-cell surface glycoprotein CD4
    Protein Accession:
    P01730
    Secondary Accessions:
    • B2R737
    • D3DUS5
    • Q4ZGK2
    • Q5U066
    • Q9UDE5

    Protein attributes for CD4 Gene

    Size:
    458 amino acids
    Molecular mass:
    51111 Da
    Quaternary structure:
    • Forms disulfide-linked homodimers at the cell surface. Interacts with LCK (PubMed:16888650). Interacts with PTK2/FAK1 (PubMed:18078954). Binds to P4HB/PDI. Interacts with IL16; this interaction induces a CD4-dependent signaling in lymphocytes (PubMed:1673145). Interacts (via Ig-like V-type domain) with MHCII alpha chain (via alpha-2 domain) and beta chain (via beta-2 domain); this interaction increases the affinity of TCR for peptide-MHCII. CD4 oligomerization via Ig-like C2-type 2 and 3 domains appears to be required for stable binding to MHCII and adhesion between T cells and APCs (PubMed:27114505, PubMed:21900604, PubMed:7604010).
    • (Microbial infection) Interacts with HIV-1 Envelope polyprotein gp160 and protein Vpu (PubMed:2214026, PubMed:16331979, PubMed:9641677, PubMed:7604010).
    • (Microbial infection) Interacts with Human Herpes virus 7 surface proteins.

    Three dimensional structures from OCA and Proteopedia for CD4 Gene

neXtProt entry for CD4 Gene

Post-translational modifications for CD4 Gene

  • Palmitoylation and association with LCK contribute to the enrichment of CD4 in lipid rafts.
  • Phosphorylated by PKC; phosphorylation at Ser-433 plays an important role for CD4 internalization.
  • Glycosylation at Asn296 and Asn325
  • Ubiquitination at Lys453
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • CD4_HUMAN (587)

Antibodies for research

No data available for DME Specific Peptides for CD4 Gene

Domains & Families for CD4 Gene

Gene Families for CD4 Gene

HGNC:
Human Protein Atlas (HPA):
  • CD markers
  • FDA approved drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for CD4 Gene

InterPro:
Blocks:
  • Immunoglobulin V-type
  • T-cell surface glycoprotein CD4 signature
  • T-cell surface antigen CD2
ProtoNet:

Suggested Antigen Peptide Sequences for CD4 Gene

GenScript: Design optimal peptide antigens:
  • T-cell surface antigen T4/Leu-3 (CD4_HUMAN)
  • CD4 receptor (Q13969_HUMAN)
  • Surface glycoprotein variant (Q6LCP8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P01730

UniProtKB/Swiss-Prot:

CD4_HUMAN :
  • The Ig-like V-type domain mediates the interaction with MHCII.
Domain:
  • The Ig-like V-type domain mediates the interaction with MHCII.
genes like me logo Genes that share domains with CD4: view

Function for CD4 Gene

Molecular function for CD4 Gene

UniProtKB/Swiss-Prot 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:peptide complex. The antigens presented by class II peptides are derived from extracellular proteins while class I peptides are derived from cytosolic proteins. Interacts simultaneously with the T-cell receptor (TCR) and the MHC class II presented by antigen presenting cells (APCs). In turn, recruits the Src kinase LCK to the vicinity of the TCR-CD3 complex. LCK then initiates different intracellular signaling pathways by phosphorylating various substrates ultimately leading to lymphokine production, motility, adhesion and activation of T-helper cells. In other cells such as macrophages or NK cells, plays a role in differentiation/activation, cytokine expression and cell migration in a TCR/LCK-independent pathway. Participates in the development of T-helper cells in the thymus and triggers the differentiation of monocytes into functional mature macrophages.
UniProtKB/Swiss-Prot Function:
(Microbial infection) Primary receptor for human immunodeficiency virus-1 (HIV-1) (PubMed:2214026, PubMed:16331979, PubMed:9641677, PubMed:12089508). Down-regulated by HIV-1 Vpu (PubMed:17346169). Acts as a receptor for Human Herpes virus 7/HHV-7 (PubMed:7909607).
GENATLAS Biochemistry:
cell differentiation antigen CD4 (p55),59kDa,HIV & MHC class II receptor,identified by monoclonal antibodies T4,Leu-3a,91D6,transmembrane glycoprotein (see LAG3),containing a tissue-specific promoter made of an initiator-like sequence,an ETS and an ATF consensus site, and a locus control region like,see LCR-CD4

Phenotypes From GWAS Catalog for CD4 Gene

Gene Ontology (GO) - Molecular Function for CD4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001618 virus receptor activity IEA --
GO:0004888 transmembrane signaling receptor activity TAS 10358157
GO:0005102 signaling receptor binding IEA --
GO:0005201 extracellular matrix structural constituent NAS 12444132
GO:0005515 protein binding IPI 7831289
genes like me logo Genes that share ontologies with CD4: view
genes like me logo Genes that share phenotypes with CD4: view

Human Phenotype Ontology for CD4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CD4 Gene

MGI Knock Outs for CD4:
  • Cd4 Cd4<tm1Mak>
  • Cd4 Cd4<tm1Litt>
  • Cd4 Cd4<tm1Doi>
  • Cd4 Cd4<tm1Knw>
  • Cd4 Cd4<tm2Litt>
  • Cd4 Cd4<tm1Dim>

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CD4

Clone products for research

  • Addgene plasmids for CD4

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CD4 Gene

Localization for CD4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CD4 Gene

Cell membrane. Single-pass type I membrane protein. Note=Localizes to lipid rafts (PubMed:12517957, PubMed:9168119). Removed from plasma membrane by HIV-1 Nef protein that increases clathrin-dependent endocytosis of this antigen to target it to lysosomal degradation. Cell surface expression is also down-modulated by HIV-1 Envelope polyprotein gp160 that interacts with, and sequesters CD4 in the endoplasmic reticulum.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CD4 gene
Compartment Confidence
plasma membrane 5
endosome 5
extracellular 4
nucleus 4
endoplasmic reticulum 4
cytoskeleton 3
mitochondrion 3
peroxisome 3
cytosol 3
lysosome 3
golgi apparatus 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CD4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005769 early endosome TAS --
GO:0005788 endoplasmic reticulum lumen IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IDA 24942581
genes like me logo Genes that share ontologies with CD4: view

Pathways & Interactions for CD4 Gene

genes like me logo Genes that share pathways with CD4: view

Pathways by source for CD4 Gene

4 GeneGo (Thomson Reuters) pathways for CD4 Gene
  • G-protein signaling N-RAS regulation pathway
  • Immune response Antigen presentation by MHC class II
  • Immune response IL-22 signaling pathway
  • Immune response T cell receptor signaling pathway
26 Qiagen pathways for CD4 Gene
  • Akt Signaling
  • Antioxidant Action of Vitamin-C
  • Apoptotic Pathways Triggered By HIV1
  • Calcium Mediated T-Cell Apoptosis
  • CCR5 Pathway in Macrophages

SIGNOR curated interactions for CD4 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for CD4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001934 positive regulation of protein phosphorylation IDA 24942581
GO:0002250 adaptive immune response IEA --
GO:0002376 immune system process IEA --
GO:0006948 induction by virus of host cell-cell fusion IDA 9166430
GO:0006955 immune response IEA,NAS 8512039
genes like me logo Genes that share ontologies with CD4: view

Drugs & Compounds for CD4 Gene

(133) Drugs for CD4 Gene - From: DrugBank, ClinicalTrials, ApexBio, DGIdb, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ibalizumab Approved, Investigational Pharma Target, antagonist 9
Primaquine Approved Pharma 102
Zidovudine Approved Pharma 506
Antithymocyte immunoglobulin (rabbit) Approved Pharma Target 0
Abacavir Approved, Investigational Pharma 234

(31) Additional Compounds for CD4 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(2) ApexBio Compounds for CD4 Gene

Compound Action Cas Number
BMS-378806 Gp120/CD4 inhibitor 357263-13-9
YYA-021 Competitive gp120-CD4 interaction inhibitor 144217-65-2
genes like me logo Genes that share compounds with CD4: view

Transcripts for CD4 Gene

mRNA/cDNA for CD4 Gene

9 REFSEQ mRNAs :
25 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CD4

Clone products for research

  • Addgene plasmids for CD4

Alternative Splicing Database (ASD) splice patterns (SP) for CD4 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b · 8c · 8d · 8e ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b ^
SP1: - - - - - - - - - -
SP2: - -
SP3: - - - - -
SP4: - - -
SP5: - -
SP6: - - -
SP7: - - - - - - - - - - - -
SP8: - - - - - - - - -
SP9: - - - - - - - - - - - - -
SP10: - - - - - - - - - - -
SP11: -
SP12: -
SP13:

ExUns: 14 ^ 15a · 15b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for CD4 Gene

GeneLoc Exon Structure for
CD4

Expression for CD4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CD4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CD4 Gene

This gene is overexpressed in Spleen (x8.4) and Whole Blood (x7.0).

Protein differential expression in normal tissues from HIPED for CD4 Gene

This gene is overexpressed in Lymph node (26.9), Tlymphocyte (15.4), Peripheral blood mononuclear cells (13.9), and CD4 Tcells (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CD4 Gene



Protein tissue co-expression partners for CD4 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CD4

SOURCE GeneReport for Unigene cluster for CD4 Gene:

Hs.631659

mRNA Expression by UniProt/SwissProt for CD4 Gene:

P01730-CD4_HUMAN
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 other immune cells such as macrophages, dendritic cells or NK cells.

Evidence on tissue expression from TISSUES for CD4 Gene

  • Blood(4.9)
  • Nervous system(4.9)
  • Liver(4.8)
  • Pancreas(4.6)
  • Spleen(4.5)
  • Lymph node(4.2)
  • Kidney(4.1)
  • Intestine(3.8)
  • Lung(3.8)
  • Bone marrow(3.7)
  • Skin(3.5)
  • Heart(3.3)
  • Muscle(3.1)
  • Stomach(3)
  • Thyroid gland(2.8)
  • Adrenal gland(2.7)
  • Bone(2.6)
  • Urine(2.6)
  • Gall bladder(2.5)
  • Eye(2.4)
  • Saliva(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CD4 Gene

Germ Layers:
  • mesoderm
Systems:
  • immune
Regions:
General:
  • blood
  • white blood cell
genes like me logo Genes that share expression patterns with CD4: view

Primer products for research

Orthologs for CD4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CD4 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CD4 30 31
  • 99.13 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CD4 30
  • 74.68 (n)
Cow
(Bos Taurus)
Mammalia CD4 30 31
  • 72.34 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Cd4 30 17 31
  • 69.48 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cd4 30
  • 68.67 (n)
Oppossum
(Monodelphis domestica)
Mammalia CD4 31
  • 41 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CD4 31
  • 28 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CD4 30 31
  • 43.76 (n)
OneToOne
Species where no ortholog for CD4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for CD4 Gene

ENSEMBL:
Gene Tree for CD4 (if available)
TreeFam:
Gene Tree for CD4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CD4: view image

Paralogs for CD4 Gene

No data available for Paralogs for CD4 Gene

Variants for CD4 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for CD4 Gene

CD4_HUMAN-P01730
The OKT monoclonal antibodies are widely used for the analysis of human peripheral blood T-lymphocytes. OKT4 reacts with T-helper/inducer lymphocytes. The OKT4 epitope of the CD4 cell-surface protein is polymorphic in white, black, and Japanese populations. The variable phenotypic expression is due a CD4 polymorphism. OKT4 positive individuals carry Arg-265 and OKT4 negative individuals carry Trp-265 [MIM:613949].

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CD4 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs10849525 Likely Benign: not provided. Benign: not provided 6,816,147(+) G/AG/T
NM_000616.5(CD4):c.699G>A (p.Thr233=)
SYNONYMOUS_VARIANT,FIVE_PRIME_UTR
rs11064416 Benign: not provided 6,814,296(+) C/T
NM_000616.5(CD4):c.369C>T (p.Phe123=)
SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON
rs11064419 Benign: not provided. - 6,816,128(+) T/Cp.Phe227Ser
NM_000616.5(CD4):c.680T>C (p.Phe227Ser)
MISSENSE_VARIANT,FIVE_PRIME_UTR
rs1325448082 Uncertain Significance: Okt4 epitope deficiency 6,816,247(+) A/G
NM_000616.5(CD4):c.799A>G (p.Thr267Ala)
MISSENSE_VARIANT,FIVE_PRIME_UTR
rs199617771 Benign: not provided 6,818,860(+) G/A
NM_000616.5(CD4):c.1292G>A (p.Arg431Gln)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CD4 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CD4 Gene

Variant ID Type Subtype PubMed ID
dgv2323n54 CNV loss 21841781
dgv757n106 CNV deletion 24896259
esv2663865 CNV deletion 23128226
esv2745479 CNV deletion 23290073
esv3548686 CNV deletion 23714750
esv3548687 CNV deletion 23714750
nsv1069635 CNV deletion 25765185
nsv1127245 CNV deletion 24896259
nsv1152779 CNV deletion 26484159
nsv52513 CNV deletion 16902084
nsv593 CNV deletion 18451855
nsv832323 CNV loss 17160897
nsv832324 CNV loss 17160897
nsv957248 CNV deletion 24416366

Variation tolerance for CD4 Gene

Residual Variation Intolerance Score: 81.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.96; 49.45% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CD4 Gene

Human Gene Mutation Database (HGMD)
CD4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CD4

SNP Genotyping and Copy Number Assays for research

Disorders for CD4 Gene

MalaCards: The human disease database

(534) MalaCards diseases for CD4 Gene - From: OMI, GTR, COP, and GCD

Disorder Aliases PubMed IDs
okt4 epitope deficiency
  • t4 epitope deficiency
human immunodeficiency virus infectious disease
  • hiv infections
coccidiosis
  • intestinal coccidiosis
viral infectious disease
  • viral disease
lymphoid interstitial pneumonia
  • lip
- elite association - COSMIC cancer census association via MalaCards
Search CD4 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CD4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with CD4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CD4 Gene

Publications for CD4 Gene

  1. Structural basis for the interaction between focal adhesion kinase and CD4. (PMID: 18078954) Garron ML … Arold ST (Journal of molecular biology 2008) 3 4 23
  2. Lipid raft distribution of CD4 depends on its palmitoylation and association with Lck, and evidence for CD4-induced lipid raft aggregation as an additional mechanism to enhance CD3 signaling. (PMID: 12517957) Fragoso R … Jin YJ (Journal of immunology (Baltimore, Md. : 1950) 2003) 3 4 23
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