| 736832 | EGF | epidermal growth factor | This gene encodes a member of the epidermal growth factor superfamily. The encoded preproprotein is proteolytically processed to generate the 53-amino acid epidermal growth factor peptide. This protein acts a potent mitogenic factor that plays an important role in the growth, proliferation and diffe rentiation of numerous cell types. This protein acts by binding with high affinity to the cell surface receptor, epidermal growth factor receptor. Defects in this gene are the cause of hypomagnesemia type 4. Dysregulation of this gene has been associated with the growth and progression of certain cancers. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016] | 4 | 109912883 | 110013766 | Human | 750 | symbol , COSMIC , Human Proteome Map | gene, protein-coding, REVIEWED [RefSeq] |
| 1354247 | EGFL6 | EGF like domain multiple 6 | This gene encodes a member of the epidermal growth factor (EGF) repeat superfamily. Members of this superfamily are characterized by the presence of EGF-like repeats and are often involved in the regulation of cell cycle, pr oliferation, and developmental processes. The gene product contains a signal peptide, suggesting that it is secreted; an EGF repeat region consisting of 4 complete EGF-like repeats and 1 partial EGF-like repeat, 3 of which have a calcium-binding consensus sequence; an arg-gly-asp integrin association motif; and a MAM domain, which is believed to have an adhesive function. This gene is expressed early during development, and its expression has been detected in lung and meningioma tumors. [provided by RefSeq, Jul 2008] | X | 13569601 | 13633575 | Human | 92 | symbol , old_gene_name , COSMIC , name , description , Human Proteome Map | gene, protein-coding, REVIEWED [RefSeq] |
| 1602888 | EGFL7 | EGF like domain multiple 7 | This gene encodes a secreted endothelial cell protein that contains two epidermal growth factor-like domains. The encoded protein may play a role in regulating vasculogenesis. This protein may be involved in the growth and proliferation of tumor cells. Alternate splicing results in multiple transcri pt variants. [provided by RefSeq, Feb 2012] | 9 | 136658856 | 136672678 | Human | 117 | symbol , old_gene_name , COSMIC , name , Human Proteome Map | gene, protein-coding, REVIEWED [RefSeq] |
| 1347289 | EGFL8 | EGF like domain multiple 8 | Predicted to enable signaling receptor binding activity. Predicted to be involved in vasculogenesis. Predicted to be active in cell surface and extracellular region. [provided by Alliance of Genome Resources, Jul 2025] | 6 | 32164595 | 32168281 | Human | 40 | symbol , old_gene_name , COSMIC , name , Human Proteome Map | gene, protein-coding, VALIDATED [RefSeq] |
| 736662 | MEGF6 | multiple EGF like domains 6 | Predicted to enable calcium ion binding activity and scavenger receptor activity. Predicted to be involved in vesicle-mediated transport. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Jul 2025] | 1 | 3487951 | 3624786 | Human | 110 | symbol , old_gene_name , COSMIC , name , Human Proteome Map , old_gene_symbol | gene, protein-coding, VALIDATED [RefSeq] |
| 737434 | MEGF8 | multiple EGF like domains 8 | The protein encoded by this gene is a single-pass type I membrane protein of unknown function that contains several EGF-like domains, Kelch repeats, and PSI domains. Defects in this gene are a cause of Carpenter syndrome 2. Two transcript variants encoding diffe rent isoforms have been found for this gene. [provided by RefSeq, Dec 2012] | 19 | 42325635 | 42378765 | Human | 294 | symbol , old_gene_name , COSMIC , name , description , Human Proteome Map , old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 1342735 | MEGF9 | multiple EGF like domains 9 | Predicted to be located in basement membrane and membrane. [provided by Alliance of Genome Resources, Jul 2025] | 9 | 120600811 | 120714470 | Human | 78 | symbol , old_gene_name , COSMIC , name , Human Proteome Map , old_gene_symbol | gene, protein-coding, VALIDATED [RefSeq] |
| 1601732 | MEGF10 | multiple EGF like domains 10 | This gene encodes a member of the multiple epidermal growth factor-like domains protein family. The encoded protein plays a role in cell adhesion, motility and proliferation, and is a critical mediator of apoptotic cell phagocytosis as well as amyloid-beta peptide uptake in the brain. Expression of this gene may be associated with schizophrenia, and mutations in this gene are a cause of early-onset myopathy, areflexia, respiratory distress, and dysphagia (EMARDD) as well as congenital myopathy with minicores. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Apr 2012] | 5 | 127229300 | 127461222 | Human | 228 | symbol , old_gene_name , COSMIC , name , Human Proteome Map | gene, protein-coding, REVIEWED [RefSeq] |
| 1603600 | MEGF11 | multiple EGF like domains 11 | Predicted to be involved in homotypic cell-cell adhesion and retina layer formation. Predicted to be located in basolateral plasma membrane. [provided by Alliance of Genome Resources, Jul 2025] | 15 | 65895299 | 66253750 | Human | 64 | symbol , old_gene_name , COSMIC , name , Human Proteome Map | gene, protein-coding, VALIDATED [RefSeq] |
| 1352791 | CRIPTO | cripto, EGF-CFC family member | This gene encodes an epidermal growth factor-related protein that contains a cripto, FRL-1, and cryptic domain. The encoded protein is an extracellular, membrane-bound signaling protein that plays an essential role in embryonic development and tumor growth. Mutations in this gene are associated with forebrain defects. Pseudogenes of this gene are found on chromosomes 2, 3, 6, 8, 19 and X. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010] | 3 | 46574535 | 46582457 | Human | 244 | name | gene, protein-coding, REVIEWED [RefSeq] |
| 1347488 | CRIPTO3 | cripto, EGF-CFC family member 3 | The TDGF3 locus has characteristics of a retrotransposon, including lack of introns and a poly(A) sequence. [provided by RefSeq, Jul 2008] | X | 110520896 | 110523021 | Human | 24 | name | gene, protein-coding, VALIDATED [RefSeq] |
| 1353993 | CFC1 | cryptic, EGF-CFC family member 1 | This gene encodes a member of the epidermal growth factor (EGF)- Cripto, Frl-1, and Cryptic (CFC) family, which are involved in signalling during embryonic development. Proteins in this family share a variant EGF-like motif, a conserved cysteine-rich domain, and a C-terminal hydrophobic region. The protein encoded by this gene is necessary for patterning the left-right embryonic axis. Mutations in this gene are associated with defects in organ development, including autosomal visceral heterotaxy and congenital heart disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012] | 2 | 130592165 | 130599575 | Human | 56 | name , description | gene, protein-coding, REVIEWED [RefSeq] |
| 1343635 | EDIL3 | EGF like and discoidin domains 3 | The protein encoded by this gene is an integrin ligand. It plays an important role in mediating angiogenesis and may be important in vessel wall remodeling and development. It also influences endothelial cell behavior. [provided by RefSeq, Jul 2008] | 5 | 83940554 | 84384880 | Human | 93 | old_gene_name , name | gene, protein-coding, REVIEWED [RefSeq] |
| 2289769 | CFC1B | cryptic, EGF-CFC family member 1B | Predicted to enable activin receptor binding activity and nodal binding activity. Predicted to be involved in circulatory system development; nodal signaling pathway; and regionalization. Predicted to act upstream of or within several processes, including heart development; left lung morphogenesis; and spleen development. Predicted to be active in cell surface and extracellular region. Implicated in tetralogy of Fallot and visceral heterotaxy. [provided by Alliance of Genome Resources, Jul 2025] | 2 | 130521222 | 130528603 | Human | 61 | name | gene, protein-coding, VALIDATED [RefSeq] |
| 1349916 | SNED1 | sushi, nidogen and EGF like domains 1 | Predicted to enable Notch binding activity. Predicted to be involved in cell-matrix adhesion. Located in extracellular matrix. [provided by Alliance of Genome Resources, Jul 2025] | 2 | 240997650 | 241095568 | Human | 88 | old_gene_name , name | gene, protein-coding, VALIDATED [RefSeq] |
| 1605895 | DNER | delta/notch like EGF repeat containing | Predicted to enable Notch binding activity. Involved in central nervous system development. Located in dendrite; early endosome; and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025] | 2 | 229357629 | 229714555 | Human | 159 | old_gene_name , name | gene, protein-coding, VALIDATED [RefSeq] |
| 1605733 | HBEGF | heparin binding EGF like growth factor | Enables growth factor activity; heparin binding activity; and transmembrane receptor protein tyrosine kinase activator activity. Involved in several processes, including epidermal growth factor receptor signaling pathway; positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal t ransduction; and positive regulation of wound healing. Located in cell surface. Is active in extracellular space. Implicated in glomerulosclerosis and perinatal necrotizing enterocolitis. [provided by Alliance of Genome Resources, Jul 2025] | 5 | 140332843 | 140346603 | Human | 402 | symbol , old_gene_name , COSMIC , name , Human Proteome Map , old_gene_symbol | gene, protein-coding, VALIDATED [RefSeq] |
| 1602968 | VWCE | von Willebrand factor C and EGF domains | Predicted to enable calcium ion binding activity. Predicted to be involved in cellular response to virus. Located in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025] | 11 | 61258286 | 61295316 | Human | 92 | old_gene_name , name | gene, protein-coding, VALIDATED [RefSeq] |
| 2299987 | VWDE | von Willebrand factor D and EGF domains | Predicted to enable signaling receptor binding activity. Predicted to be active in cell surface and extracellular region. [provided by Alliance of Genome Resources, Jul 2025] | 7 | 12330885 | 12403865 | Human | 40 | old_gene_name , name | gene, protein-coding, VALIDATED [RefSeq] |
| 1343004 | EYS | EGF-like photoreceptor maintenance factor | The product of this gene contains multiple epidermal growth factor (EGF)-like and LamG domains. The protein is expressed in the photoreceptor layer of the retina, and the gene is mutated in autosomal recessive retinitis pigmentosa. Multiple transcript variants e ncoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008] | 6 | 63719980 | 65707226 | Human | 1253 | old_gene_name , name , description , old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 1349047 | CCBE1 | collagen and calcium binding EGF domains 1 | This gene is thought to function in extracellular matrix remodeling and migration. It is predominantly expressed in the ovary, but down regulated in ovarian cancer cell lines and primary carcinomas, suggesting its role as a tumour suppressor. Mutations in this gene have been associated with Hennekam lymphangiectasia-lymphedema syndrome, a generalized lymphatic dysplasia in humans. [provided by RefSeq, Mar 2010] | 18 | 59430939 | 59697721 | Human | 242 | old_gene_name , name | gene, protein-coding, REVIEWED [RefSeq] |
| 1354258 | CELSR1 | cadherin EGF LAG seven-pass G-type receptor 1 | The protein encoded by this gene is a member of the flamingo subfamily, part of the cadherin superfamily. The flamingo subfamily consists of nonclassic-type cadherins; a subpopulation that does not interact with catenins. The flamingo cadherins are located at the plasma membrane and have nine cadher in domains, seven epidermal growth factor-like repeats and two laminin A G-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic unique to this subfamily. It is postulated that these proteins are receptors involved in contact-mediated communication, with cadherin domains acting as homophilic binding regions and the EGF-like domains involved in cell adhesion and receptor-ligand interactions. This particular member is a developmentally regulated, neural-specific gene which plays an unspecified role in early embryogenesis. [provided by RefSeq, Jul 2008] | 22 | 46361174 | 46537620 | Human | 190 | old_gene_name , name , description | gene, protein-coding, REVIEWED [RefSeq] |
| 733345 | CELSR2 | cadherin EGF LAG seven-pass G-type receptor 2 | The protein encoded by this gene is a member of the flamingo subfamily, part of the cadherin superfamily. The flamingo subfamily consists of nonclassic-type cadherins; a subpopulation that does not interact with catenins. The flamingo cadherins are located at the plasma membrane and have nine cadher in domains, seven epidermal growth factor-like repeats and two laminin A G-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic unique to this subfamily. It is postulated that these proteins are receptors involved in contact-mediated communication, with cadherin domains acting as homophilic binding regions and the EGF-like domains involved in cell adhesion and receptor-ligand interactions. The specific function of this particular member has not been determined. [provided by RefSeq, Jul 2008] | 1 | 109249539 | 109275751 | Human | 162 | old_gene_name , name , description , old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 1342685 | CELSR3 | cadherin EGF LAG seven-pass G-type receptor 3 | This gene belongs to the flamingo subfamily, which is included in the cadherin superfamily. The flamingo cadherins consist of nonclassic-type cadherins that do not interact with catenins. They are plasma membrane proteins containing seven epidermal growth factor-like repeats, nine cadherin domains a nd two laminin A G-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic feature of their subfamily. The encoded protein may be involved in the regulation of contact-dependent neurite growth and may play a role in tumor formation. [provided by RefSeq, Jun 2013] | 3 | 48636463 | 48662886 | Human | 131 | old_gene_name , name , old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 1318351 | EFEMP1 | EGF-like fibulin extracellular matrix protein 1 | This gene encodes a member of the fibulin family of extracellular matrix glycoproteins. Like all members of this family, the encoded protein contains tandemly repeated epidermal growth factor-like repeats followed by a C-terminus fibulin-type domain. This gene is upregulated in malignant gliomas and may play a role in the aggressive nature of these tumors. Mutations in this gene are associated with Doyne honeycomb retinal dystrophy. Alternatively spliced transcript variants that encode the same protein have been described.[provided by RefSeq, Nov 2009] | 2 | 55865967 | 55923782 | Human | 500 | old_gene_name , name | gene, protein-coding, REVIEWED [RefSeq] |
| 1349728 | EFEMP2 | EGF-like fibulin extracellular matrix protein 2 | A large number of extracellular matrix proteins have been found to contain variations of the epidermal growth factor (EGF) domain and have been implicated in functions as diverse as blood coagulation, activation of complement and determination of cell fate durin g development. The protein encoded by this gene contains four EGF2 domains and six calcium-binding EGF2 domains. This gene is necessary for elastic fiber formation and connective tissue development. Defects in this gene are cause of an autosomal recessive cutis laxa syndrome. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jan 2011] | 11 | 65866441 | 65872800 | Human | 413 | old_gene_name , name , description | gene, protein-coding, REVIEWED [RefSeq] |
| 1603594 | EGFEM1P | EGF like and EMI domain containing 1, pseudogene | Predicted to enable scavenger receptor activity. Predicted to be involved in vesicle-mediated transport. [provided by Alliance of Genome Resources, Jul 2025] | 3 | 168249522 | 168830599 | Human | 27 | symbol , COSMIC , name , Human Proteome Map | gene, pseudo, VALIDATED [RefSeq] |
| 38656340 | LOC100421064 | sushi, nidogen and EGF like domains 1 pseudogene | | 19 | 35075798 | 35076483 | Human | | name | gene, pseudo, INFERRED [RefSeq] |
| 1603204 | HEG1 | heart development protein with EGF like domains 1 | Predicted to enable calcium ion binding activity. Involved in several processes, including negative regulation of Rho protein signal transduction; negative regulation of Rho-dependent protein serine/threonine kinase activity; and negative regulation of membrane permeability. Located in cell-cell jun ction. [provided by Alliance of Genome Resources, Jul 2025] | 3 | 124965710 | 125055997 | Human | 151 | old_gene_name , name | gene, protein-coding, VALIDATED [RefSeq] |
| 1602070 | EGFLAM | EGF like, fibronectin type III and laminin G domains | Predicted to enable calcium ion binding activity and glycosaminoglycan binding activity. Predicted to act upstream of or within extracellular matrix organization and positive regulation of cell-substrate adhesion. Part of cell surface. [provided by Alliance of Genome Resources, Jul 2025] | 5 | 38258559 | 38465480 | Human | 104 | symbol , old_gene_name , COSMIC , name , Human Proteome Map | gene, protein-coding, VALIDATED [RefSeq] |
| 736002 | MFGE8 | milk fat globule EGF and factor V/VIII domain containing | This gene encodes a preproprotein that is proteolytically processed to form multiple protein products. The major encoded protein product, lactadherin, is a membrane glycoprotein that promotes phagocytosis of apoptotic cells. This protein has also been implicated in wound healing, autoimmune disease, and cancer. Lactadherin can be further processed to form a smaller cleavage product, medin, which comprises the major protein component of aortic medial amyloid (AMA). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015] | 15 | 88898683 | 88913379 | Human | 186 | name , ensembl_full_name | gene, protein-coding, REVIEWED [RefSeq] |
| 1319121 | SCUBE1 | signal peptide, CUB domain and EGF like domain containing 1 | This gene encodes a cell surface glycoprotein that is a member of the SCUBE (signal peptide, CUB domain, EGF (epidermal growth factor)-like protein) family. Family members have an amino-terminal signal peptide, nine copies of EGF span>-like repeats and a CUB domain at the carboxyl terminus. This protein is expressed in platelets and endothelial cells and may play an important role in vascular biology. [provided by RefSeq, Oct 2011] | 22 | 43197280 | 43343372 | Human | 85 | old_gene_name , name , description | gene, protein-coding, REVIEWED [RefSeq] |
| 1352842 | SCUBE2 | signal peptide, CUB domain and EGF like domain containing 2 | Predicted to enable calcium ion binding activity; hedgehog family protein binding activity; and lipid binding activity. Predicted to be involved in signal transduction. Predicted to act upstream of or within several processes, including chondrocyte differentiation involved in endochondral bone morph ogenesis; positive regulation of chondrocyte proliferation; and positive regulation of osteoblast differentiation. Predicted to be located in extracellular region. Predicted to be active in cell surface and extracellular space. [provided by Alliance of Genome Resources, Apr 2025] | 11 | 9019476 | 9091599 | Human | 92 | old_gene_name , name , old_gene_symbol | gene, protein-coding, VALIDATED [RefSeq] |
| 1312575 | SCUBE3 | signal peptide, CUB domain and EGF like domain containing 3 | This gene encodes a member of the signal peptide, complement subcomponents C1r/C1s, Uegf, bone morphogenetic protein-1 and epidermal growth factor-like domain containing protein family. Overexpression of this gene in human embryonic kidney cells results in secre tion of a glycosylated form of the protein that forms oligomers and tethers to the cell surface. This gene is upregulated in lung cancer tumor tissue compared to healthy tissue and is associated with loss of the epithelial marker E-cadherin and with increased expression of vimentin, a mesenchymal marker. In addition, the protein encoded by this gene is a transforming growth factor beta receptor ligand, and when secreted by cancer cells, it can be cleaved in vitro to release the N-terminal epidermal growth factor-like repeat domain and the C-terminal complement subcomponents C1r/C1s domain. Both the full length protein and C-terminal fragment can bind to the transforming growth factor beta type II receptor to promote the epithelial-mesenchymal transition and tumor angiogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014] | 6 | 35213956 | 35253079 | Human | 203 | old_gene_name , name , description , old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 1602633 | EOGT | EGF domain specific O-linked N-acetylglucosamine transferase | This gene encodes an enzyme that acts in the lumen of the endoplasmic reticulum to catalyze the transfer of N-acetylglucosamine to serine or threonine residues of extracellular-targeted proteins. This enzyme modifies proteins containing eukaryotic growth factor (EGF pan>)-like domains, including the Notch receptor, thereby regulating developmental signalling. Mutations in this gene have been observed in individuals with Adams-Oliver syndrome 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015] | 3 | 68975225 | 69013684 | Human | 219 | old_gene_name , name , description | gene, protein-coding, REVIEWED [RefSeq] |
| 151670681 | LOC124905945 | signal peptide, CUB and EGF-like domain-containing protein 3 | | | | | Human | | name | gene, protein-coding, MODEL [RefSeq] |
| 151671651 | LOC124905946 | signal peptide, CUB and EGF-like domain-containing protein 3 | | | | | Human | | name | gene, protein-coding, MODEL [RefSeq] |
| 1346429 | TIE1 | tyrosine kinase with immunoglobulin like and EGF like domains 1 | This gene encodes a member of the tyrosine protein kinase family. The encoded protein plays a critical role in angiogenesis and blood vessel stability by inhibiting angiopoietin 1 signaling through the endothelial receptor tyrosine kinase Tie2. Ectodomain cleavage of the encoded protein relieves inh ibition of Tie2 and is mediated by multiple factors including vascular endothelial growth factor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011] | 1 | 43300982 | 43323108 | Human | 131 | old_gene_name , name | gene, protein-coding, REVIEWED [RefSeq] |
| 735335 | TMEFF1 | transmembrane protein with EGF like and two follistatin like domains 1 | Enables receptor ligand inhibitor activity. Involved in host-mediated suppression of symbiont invasion. Is active in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025] | 9 | 100473149 | 100577636 | Human | 85 | old_gene_name , name | gene, protein-coding, VALIDATED [RefSeq] |
| 1318843 | TMEFF2 | transmembrane protein with EGF like and two follistatin like domains 2 | This gene encodes a member of the tomoregulin family of transmembrane proteins. This protein has been shown to function as both an oncogene and a tumor suppressor depending on the cellular context and may regulate prostate cancer cell invasion. Multiple soluble forms of this protein have been identi fied that arise from both an alternative splice variant and ectodomain shedding. Additionally, this gene has been found to be hypermethylated in multiple cancer types. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015] | 2 | 191949046 | 192194933 | Human | 129 | old_gene_name , name | gene, protein-coding, REVIEWED [RefSeq] |
| 1350967 | SVEP1 | sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 | Enables integrin binding activity. Involved in negative regulation of vasoconstriction and positive regulation of platelet activation. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Jul 2025] | 9 | 110365248 | 110579741 | Human | 134 | old_gene_name , name | gene, protein-coding, VALIDATED [RefSeq] |
| 16565169 | AC020895.1 | egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1) pseudogene | | | | | Human | | name | gene, unprocessed_pseudogene |
| 1352005 | ADGRG1 | adhesion G protein-coupled receptor G1 | This gene encodes a member of the G protein-coupled receptor family and regulates brain cortical patterning. The encoded protein binds specifically to transglutaminase 2, a component of tissue and tumor stroma implicated as an inhibitor of tumor progression. Mutations in this gene are associated wit h a brain malformation known as bilateral frontoparietal polymicrogyria. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014] | 16 | 57619738 | 57665567 | Human | 392 | old_gene_name | gene, protein-coding, REVIEWED [RefSeq] |
| 1313843 | ADGRG3 | adhesion G protein-coupled receptor G3 | Predicted to enable G protein-coupled receptor activity. Involved in G protein-coupled receptor signaling pathway and regulation of cell migration. Located in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025] | 16 | 57665629 | 57689378 | Human | 86 | old_gene_name | gene, protein-coding, VALIDATED [RefSeq] |
| 1319320 | DLK2 | delta like non-canonical Notch ligand 2 | Predicted to enable Notch binding activity. Involved in negative regulation of Notch signaling pathway. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025] | 6 | 43450352 | 43456632 | Human | 75 | old_gene_name , old_gene_symbol | gene, protein-coding, VALIDATED [RefSeq] |
| 732154 | ZFP36L1 | ZFP36 like 1 zinc finger CCCH-type | This gene is a member of the TIS11 family of early response genes, which are induced by various agonists such as the phorbol ester TPA and the polypeptide mitogen EGF. This gene is well conserved across species and has a promoter that contains motifs seen in oth er early-response genes. The encoded protein contains a distinguishing putative zinc finger domain with a repeating cys-his motif. This putative nuclear transcription factor most likely functions in regulating the response to growth factors. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] | 14 | 68787655 | 68796243 | Human | 285 | old_gene_name , description | gene, protein-coding, REVIEWED [RefSeq] |
| 1318953 | ZFP36L2 | ZFP36 like 2 zinc finger CCCH-type | This gene is a member of the TIS11 family of early response genes. Family members are induced by various agonists such as the phorbol ester TPA and the polypeptide mitogen EGF. The encoded protein contains a distinguishing putative zinc finger domain with a repe ating cys-his motif. This putative nuclear transcription factor most likely functions in regulating the response to growth factors. [provided by RefSeq, Jul 2008] | 2 | 43222402 | 43226606 | Human | 232 | old_gene_name , description | gene, protein-coding, REVIEWED [RefSeq] |
| 1342649 | ADGRE1 | adhesion G protein-coupled receptor E1 | This gene encodes a protein that has a domain resembling seven transmembrane G protein-coupled hormone receptors (7TM receptors) at its C-terminus. The N-terminus of the encoded protein has six EGF-like modules, separated from the transmembrane segments by a ser ine/threonine-rich domain, a feature reminiscent of mucin-like, single-span, integral membrane glycoproteins with adhesive properties. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] | 19 | 6887579 | 6940450 | Human | 199 | old_gene_name , description | gene, protein-coding, REVIEWED [RefSeq] |
| 1345702 | ADGRE2 | adhesion G protein-coupled receptor E2 | This gene encodes a member of the class B seven-span transmembrane (TM7) subfamily of G-protein coupled receptors. These proteins are characterized by an extended extracellular region with a variable number of N-terminal epidermal growth factor-like domains coupled to a TM7 domain via a mucin-like s pacer domain. The encoded protein is expressed mainly in myeloid cells where it promotes cell-cell adhesion through interaction with chondroitin sulfate chains. This gene is situated in a cluster of related genes on chromosome 19. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012] | 19 | 14724171 | 14778560 | Human | 94 | old_gene_name | gene, protein-coding, REVIEWED [RefSeq] |
| 1606765 | ADGRE3 | adhesion G protein-coupled receptor E3 | This gene encodes a member of the class B seven-span transmembrane (TM7) receptor family expressed predominantly by cells of the immune system. Family members are characterized by an extended extracellular region with a variable number of N-terminal epidermal growth factor (EGF 700;'>EGF)-like domains coupled to a TM7 domain via a mucin-like spacer domain. This gene is closely linked to the gene encoding egf-like molecule containing mucin-like hormone receptor 2 on chromosome 19. This protein may play a role in myeloid-myeloid interactions during immune and inflammatory responses. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2014] | 19 | 14600117 | 14674844 | Human | 34 | old_gene_name , description | gene, protein-coding, REVIEWED [RefSeq] |
| 732170 | FAT2 | FAT atypical cadherin 2 | This gene is the second identified human homolog of the Drosophila fat gene, which encodes a tumor suppressor essential for controlling cell proliferation during Drosophila development. The gene product is a member of the cadherin superfamily, a group of integral membrane proteins characterized by t he presence of cadherin-type repeats. In addition to containing 34 tandem cadherin-type repeats, the gene product has two epidermal growth factor (EGF)-like repeats and one laminin G domain. This protein most likely functions as a cell adhesion molecule, controlling cell proliferation and playing an important role in cerebellum development. [provided by RefSeq, Jul 2008] | 5 | 151504092 | 151594819 | Human | 110 | old_gene_name , description , old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 731744 | LRP4 | LDL receptor related protein 4 | This gene encodes a member of the low-density lipoprotein receptor-related protein family. The encoded protein may be a regulator of Wnt signaling. Mutations in this gene are associated with Cenani-Lenz syndrome. [provided by RefSeq, May 2010] | 11 | 46856717 | 46918550 | Human | 417 | old_gene_name , old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 733848 | SLIT1 | slit guidance ligand 1 | Enables Roundabout binding activity. Involved in axon extension involved in axon guidance; motor neuron axon guidance; and negative chemotaxis. Predicted to be located in extracellular region. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Jul 2025] | 10 | 96998038 | 97185959 | Human | 155 | old_gene_name , old_gene_symbol | gene, protein-coding, VALIDATED [RefSeq] |
| 733245 | SLIT3 | slit guidance ligand 3 | The protein encoded by this gene is secreted, likely interacting with roundabout homolog receptors to effect cell migration. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012] | 5 | 168661740 | 169301139 | Human | 191 | old_gene_name , old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 1642918 | PEAR1 | platelet endothelial aggregation receptor 1 | PEAR1 is a platelet receptor that signals upon the formation of platelet-platelet contacts independent of platelet activation and secondary to platelet aggregation (Nanda et al., 2005 [PubMed 15851471]).[supplied by OMIM, Mar 2008] | 1 | 156893718 | 156916429 | Human | 92 | old_gene_name , old_gene_symbol | gene, protein-coding, VALIDATED [RefSeq] |
| 1347532 | ADGRL4 | adhesion G protein-coupled receptor L4 | Predicted to enable G protein-coupled receptor activity. Predicted to be involved in adenylate cyclase-activating G protein-coupled receptor signaling pathway. Predicted to be located in cytoplasmic vesicle. Predicted to be active in plasma membrane. Biomarker of glioblastoma and hypertrophic cardio myopathy. [provided by Alliance of Genome Resources, Jul 2025] | 1 | 78889764 | 79006730 | Human | 105 | old_gene_name | gene, protein-coding, VALIDATED [RefSeq] |
| 1319745 | CRELD1 | CRELD disulfide isomerase 1 | This gene encodes a member of a subfamily of epidermal growth factor-related proteins. The encoded protein is characterized by a cysteine-rich with epidermal growth factor-like domain. This protein may function as a cell adhesion molecule. Mutations in this gene are the cause of atrioventricular sep tal defect. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010] | 3 | 9933834 | 9945406 | Human | 240 | old_gene_name | gene, protein-coding, REVIEWED [RefSeq] |
| 1603954 | CRELD2 | CRELD disulfide isomerase 2 | Predicted to enable calcium ion binding activity and protein disulfide isomerase activity. Predicted to be located in Golgi apparatus; endoplasmic reticulum; and extracellular space. [provided by Alliance of Genome Resources, Jul 2025] | 22 | 49918634 | 49927537 | Human | 149 | old_gene_name | gene, protein-coding, VALIDATED [RefSeq] |
| 1603556 | CLEC14A | C-type lectin domain containing 14A | This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. This fam ily member plays a role in cell-cell adhesion and angiogenesis. It functions in filopodia formation, cell migration and tube formation. Due to its presence at higher levels in tumor endothelium than in normal tissue endothelium, it is considered to be a candidate for tumor vascular targeting. [provided by RefSeq, Jan 2012] | 14 | 38254000 | 38256093 | Human | 91 | old_gene_name , old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 1348863 | ITGBL1 | integrin subunit beta like 1 | This gene encodes a beta integrin-related protein that is a member of the EGF-like protein family. The encoded protein contains integrin-like cysteine-rich repeats. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012] | 13 | 101452675 | 101720856 | Human | 93 | old_gene_name , description | gene, protein-coding, REVIEWED [RefSeq] |
| 1316133 | KCTD11 | potassium channel tetramerization domain containing 11 | Enables identical protein binding activity. Predicted to be involved in positive regulation of neuron differentiation. Predicted to act upstream of or within negative regulation of neuroblast proliferation; negative regulation of smoothened signaling pathway; and nervous system development. Predicte d to be located in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025] | 17 | 7352162 | 7354944 | Human | 75 | old_gene_name | gene, protein-coding, VALIDATED [RefSeq] |
| 1342531 | TEK | TEK receptor tyrosine kinase | This gene encodes a receptor that belongs to the protein tyrosine kinase Tie2 family. The encoded protein possesses a unique extracellular region that contains two immunoglobulin-like domains, three epidermal growth factor (EGF)-like domains and three fibronecti n type III repeats. The ligand angiopoietin-1 binds to this receptor and mediates a signaling pathway that functions in embryonic vascular development. Mutations in this gene are associated with inherited venous malformations of the skin and mucous membranes. Alternative splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Feb 2014] | 9 | 27109225 | 27230174 | Human | 377 | old_gene_name , description | gene, protein-coding, REVIEWED [RefSeq] |
| 1604498 | NPNT | nephronectin | Predicted to enable integrin binding activity. Predicted to be involved in several processes, including cell-cell adhesion mediated by integrin; positive regulation of ERK1 and ERK2 cascade; and positive regulation of alkaline phosphatase activity. Predicted to act upstream of or within positive reg ulation of transforming growth factor beta receptor signaling pathway. Located in collagen-containing extracellular matrix and extracellular exosome. [provided by Alliance of Genome Resources, Apr 2025] | 4 | 105895471 | 105971671 | Human | 139 | old_gene_name , old_gene_symbol | gene, protein-coding, VALIDATED [RefSeq] |
| 736145 | FBLN5 | fibulin 5 | The protein encoded by this gene is a secreted, extracellular matrix protein containing an Arg-Gly-Asp (RGD) motif and calcium-binding EGF-like domains. It promotes adhesion of endothelial cells through interaction of integrins and the RGD motif. It is prominent ly expressed in developing arteries but less so in adult vessels. However, its expression is reinduced in balloon-injured vessels and atherosclerotic lesions, notably in intimal vascular smooth muscle cells and endothelial cells. Therefore, the protein encoded by this gene may play a role in vascular development and remodeling. Defects in this gene are a cause of autosomal dominant cutis laxa, autosomal recessive cutis laxa type I (CL type I), and age-related macular degeneration type 3 (ARMD3). [provided by RefSeq, Jul 2008] | 14 | 91869411 | 91947694 | Human | 484 | old_gene_name , description | gene, protein-coding, REVIEWED [RefSeq] |
| 733098 | CSPG5 | chondroitin sulfate proteoglycan 5 | The protein encoded by this gene is a proteoglycan that may function as a neural growth and differentiation factor. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011] | 3 | 47562238 | 47580240 | Human | 105 | old_gene_name | gene, protein-coding, REVIEWED [RefSeq] |
| 1349105 | STAB2 | stabilin 2 | This gene encodes a large, transmembrane receptor protein which may function in angiogenesis, lymphocyte homing, cell adhesion, or receptor scavenging. The protein contains 7 fasciclin, 15 epidermal growth factor (EGF)-like, and 2 laminin-type EGF weight:700;'>EGF-like domains as well as a C-type lectin-like hyaluronan-binding Link module. The protein is primarily expressed on sinusoidal endothelial cells of liver, spleen, and lymph node. The receptor has been shown to bind and endocytose ligands such as hyaluronan, low density lipoprotein, Gram-positive and Gram-negative bacteria, and advanced glycosylation end products. Supporting its possible role as a scavenger receptor, the protein has been shown to cycle between the plasma membrane and lysosomes. [provided by RefSeq, Jul 2008] | 12 | 103587273 | 103766719 | Human | 104 | old_gene_name , description | gene, protein-coding, REVIEWED [RefSeq] |
| 5013873 | MSANTD3-TMEFF1 | MSANTD3-TMEFF1 readthrough | This locus represents naturally occurring read-through transcription from the neighboring MSANTD3 (Myb/SANT-like DNA-binding domain containing 3) and TMEFF1 (transmembrane protein with EGF-like and two follistatin-like domains 1) genes. The read-through transcri pt encodes a fusion protein that shares sequence identity with the products of each individual gene. [provided by RefSeq, Aug 2013] | 9 | 100441906 | 100577636 | Human | 18 | old_gene_name , description | gene, protein-coding, VALIDATED [RefSeq] |
| 1321166 | STAB1 | stabilin 1 | This gene encodes a large, transmembrane receptor protein which may function in angiogenesis, lymphocyte homing, cell adhesion, or receptor scavenging. The protein contains 7 fasciclin, 16 epidermal growth factor (EGF)-like, and 2 laminin-type EGF weight:700;'>EGF-like domains as well as a C-type lectin-like hyaluronan-binding Link module. The protein is primarily expressed on sinusoidal endothelial cells of liver, spleen, and lymph node. The receptor has been shown to endocytose ligands such as low density lipoprotein, Gram-positive and Gram-negative bacteria, and advanced glycosylation end products. Supporting its possible role as a scavenger receptor, the protein rapidly cycles between the plasma membrane and early endosomes. [provided by RefSeq, Jul 2008] | 3 | 52495338 | 52524495 | Human | 129 | old_gene_name , description | gene, protein-coding, REVIEWED [RefSeq] |
| 69152 | EGFR | epidermal growth factor receptor | The protein encoded by this gene is a transmembrane glycoprotein that is a member of the protein kinase superfamily. This protein is a receptor for members of the epidermal growth factor family. EGFR is a cell surface protein that binds to epidermal growth facto r, thus inducing receptor dimerization and tyrosine autophosphorylation leading to cell proliferation. Mutations in this gene are associated with lung cancer. EGFR is a component of the cytokine storm which contributes to a severe form of Coronavirus Disease 2019 (COVID-19) resulting from infection with severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2). [provided by RefSeq, Jul 2020] | 7 | 55019017 | 55211628 | Human | 2280 | symbol , old_gene_name , COSMIC , description , Human Proteome Map | gene, protein-coding, REVIEWED [RefSeq] |
| 7158345 | EGFR-AS1 | EGFR antisense RNA 1 | ASSOCIATED WITH Hereditary Neoplastic Syndromes; lung cancer; INTERACTS WITH 2-hydroxypropanoic acid; bis(2-ethylhexyl) phthalate; cadmium dichloride | 7 | 55179750 | 55188949 | Human | 17 | symbol , COSMIC , name , Human Proteome Map | gene, ncrna, VALIDATED [RefSeq] |
| 6481203 | EGFLAM-AS1 | EGFLAM antisense RNA 1 | | 5 | 38424855 | 38427376 | Human | | symbol , COSMIC , name , Human Proteome Map | gene, ncrna, VALIDATED [RefSeq] |
| 5132796 | EGFLAM-AS2 | EGFLAM antisense RNA 2 | | 5 | 38399814 | 38403471 | Human | | symbol , COSMIC , name , Human Proteome Map | gene, ncrna, VALIDATED [RefSeq] |
| 6481209 | EGFLAM-AS3 | EGFLAM antisense RNA 3 | | | | | Human | | symbol , COSMIC , name , Human Proteome Map | gene, ncrna |
| 5683645 | EGFLAM-AS4 | EGFLAM antisense RNA 4 | | 5 | 38282269 | 38290986 | Human | | symbol , COSMIC , name , Human Proteome Map | gene, ncrna, VALIDATED [RefSeq] |
| 16559186 | EGFLAM-AS5 | EGFLAM antisense RNA 5 | | | | | Human | | symbol , COSMIC , name , Human Proteome Map | gene, lncrna |
| 151669393 | EGFLAM-AS5 | EGFLAM antisense RNA 5 | | 5 | 38434501 | 38468366 | Human | | symbol , COSMIC , name , Human Proteome Map | gene, ncrna, VALIDATED [RefSeq] |
| 16554094 | LNCEGFL7OS | lncRNA EGFL7 opposite strand | INTERACTS WITH benzo[a]pyrene | 9 | 136648610 | 136660421 | Human | 1 | symbol , old_gene_name , COSMIC , name , Human Proteome Map | gene, ncrna, VALIDATED [RefSeq] |
| 7243718 | PPT2-EGFL8 | PPT2-EGFL8 readthrough (NMD candidate) | This locus represents naturally occurring read-through transcription between the neighboring PPT2 (palmitoyl-protein thioesterase 2) and EGFL8 (EGF-like-domain, multiple 8) genes located in the major histocompatibility compl ex class III region of chromosome 6. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is thus unlikely to produce a protein product. [provided by RefSeq, Feb 2011] | 6 | 32153999 | 32168285 | Human | 5 | symbol , COSMIC , name , description , Human Proteome Map | gene, ncrna, VALIDATED [RefSeq] |
| 1604558 | GFM1 | G elongation factor mitochondrial 1 | Eukaryotes contain two protein translational systems, one in the cytoplasm and one in the mitochondria. Mitochondrial translation is crucial for maintaining mitochondrial function and mutations in this system lead to a breakdown in the respiratory chain-oxidative phosphorylation system and to impair ed maintenance of mitochondrial DNA. This gene encodes one of the mitochondrial translation elongation factors. Its role in the regulation of normal mitochondrial function and in different disease states attributed to mitochondrial dysfunction is not known. [provided by RefSeq, Jul 2008] | 3 | 158644527 | 158695581 | Human | 182 | old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 1312890 | RHBDF1 | rhomboid 5 homolog 1 | Predicted to enable growth factor binding activity and serine-type endopeptidase activity. Involved in several processes, including negative regulation of protein secretion; regulation of epidermal growth factor receptor signaling pathway; and regulation of proteasomal protein catabolic process. Loc ated in Golgi membrane and endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Jul 2025] | 16 | 58059 | 76360 | Human | 130 | old_gene_symbol | gene, protein-coding, VALIDATED [RefSeq] |
| 18183029 | EGILA | EGFR interacting lncRNA | | 14 | 20693480 | 20706941 | Human | | name , old_gene_symbol | gene, ncrna, VALIDATED [RefSeq] |
| 732473 | GRB2 | growth factor receptor bound protein 2 | The protein encoded by this gene binds the epidermal growth factor receptor and contains one SH2 domain and two SH3 domains. Its two SH3 domains direct complex formation with proline-rich regions of other proteins, and its SH2 domain binds tyrosine phosphorylated sequences. This gene is similar to t he Sem5 gene of C.elegans, which is involved in the signal transduction pathway. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] | 17 | 75318076 | 75405678 | Human | 391 | old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 736353 | BTC | betacellulin | This gene encodes a member of the epidermal growth factor (EGF) family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the secreted growth fact or. A secreted form and a membrane-anchored form of this protein bind to multiple different EGF receptors. This protein promotes pancreatic cell proliferation and insulin secretion, as well as retinal vascular permeability. Mutations in this gene may be associated with type 2 diabetes in human patients. [provided by RefSeq, Nov 2015] | 4 | 74744759 | 74794523 | Human | 138 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1605117 | DEGS1 | delta 4-desaturase, sphingolipid 1 | This gene encodes a member of the membrane fatty acid desaturase family which is responsible for inserting double bonds into specific positions in fatty acids. This protein contains three His-containing consensus motifs that are characteristic of a group of membrane fatty acid desaturases. It is pre dicted to be a multiple membrane-spanning protein localized to the endoplasmic reticulum. Overexpression of this gene inhibited biosynthesis of the EGF receptor, suggesting a possible role of a fatty acid desaturase in regulating biosynthetic processing of the EGF receptor. [provided by RefSeq, Mar 2010] | 1 | 224183240 | 224193441 | Human | 170 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 619563 | ERBB2 | erb-b2 receptor tyrosine kinase 2 | This gene encodes a member of the epidermal growth factor (EGF) receptor family of receptor tyrosine kinases. This protein has no ligand binding domain of its own and therefore cannot bind growth factors. However, it does bind tightly to other ligand-bound EGF style='font-weight:700;'>EGF receptor family members to form a heterodimer, stabilizing ligand binding and enhancing kinase-mediated activation of downstream signalling pathways, such as those involving mitogen-activated protein kinase and phosphatidylinositol-3 kinase. Allelic variations at amino acid positions 654 and 655 of isoform a (positions 624 and 625 of isoform b) have been reported, with the most common allele, Ile654/Ile655, shown here. Amplification and/or overexpression of this gene has been reported in numerous cancers, including breast and ovarian tumors. Alternative splicing results in several additional transcript variants, some encoding different isoforms and others that have not been fully characterized. [provided by RefSeq, Jul 2008] | 17 | 39688094 | 39728658 | Human | 968 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1625085 | GXYLT2 | glucoside xylosyltransferase 2 | The protein encoded by this gene is a xylosyltransferase that elongates O-linked glucose bound to epidermal growth factor (EGF) repeats. The encoded protein catalyzes the addition of xylose to the O-glucose-modified residues of EGF repeats of Notch proteins. [provided by RefSeq, Sep 2016] | 3 | 72888046 | 72976915 | Human | 99 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1314206 | SPART | spartin | This gene encodes a protein containing a MIT (Microtubule Interacting and Trafficking molecule) domain, and is implicated in regulating endosomal trafficking and mitochondria function. The protein localizes to mitochondria and partially co-localizes with microtubules. Stimulation with epidermal grow th factor (EGF) results in protein translocation to the plasma membrane, and the protein functions in the degradation and intracellular trafficking of EGF receptor. Multiple alternatively spliced variants, encoding the same protein, have been identified. Mutations associated with this gene cause autosomal recessive spastic paraplegia 20 (Troyer syndrome). [provided by RefSeq, Nov 2008] | 13 | 36301638 | 36370180 | Human | 242 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 733223 | ADAM15 | ADAM metallopeptidase domain 15 | The protein encoded by this gene is a member of the ADAM (a disintegrin and metalloproteinase) protein family. ADAM family members are type I transmembrane glycoproteins known to be involved in cell adhesion and proteolytic ectodomain processing of cytokines and adhesion molecules. This protein cont ains multiple functional domains including a zinc-binding metalloprotease domain, a disintegrin-like domain, as well as a EGF-like domain. Through its disintegrin-like domain, this protein specifically interacts with the integrin beta chain, beta 3. It also interacts with Src family protein-tyrosine kinases in a phosphorylation-dependent manner, suggesting that this protein may function in cell-cell adhesion as well as in cellular signaling. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008] | 1 | 155051316 | 155062775 | Human | 146 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 731400 | ADAM17 | ADAM metallopeptidase domain 17 | This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biologic processes involving cell-cell and cell-matrix interactio ns, including fertilization, muscle development, and neurogenesis. The encoded preproprotein is proteolytically processed to generate the mature protease. The encoded protease functions in the ectodomain shedding of tumor necrosis factor-alpha, in which soluble tumor necrosis factor-alpha is released from the membrane-bound precursor. This protease also functions in the processing of numerous other substrates, including cell adhesion proteins, cytokine and growth factor receptors and epidermal growth factor (EGF) receptor ligands, and plays a prominent role in the activation of the Notch signaling pathway. Elevated expression of this gene has been observed in specific cell types derived from psoriasis, rheumatoid arthritis, multiple sclerosis and Crohn's disease patients, suggesting that the encoded protein may play a role in autoimmune disease. Additionally, this protease may play a role in viral infection through its cleavage of ACE2, the cellular receptor for SARS-CoV and SARS-CoV-2. [provided by RefSeq, Aug 2020] | 2 | 9488486 | 9555830 | Human | 388 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1321127 | ADAM9 | ADAM metallopeptidase domain 9 | This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interact ions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene interacts with SH3 domain-containing proteins, binds mitotic arrest deficient 2 beta protein, and is also involved in TPA-induced ectodomain shedding of membrane-anchored heparin-binding EGF-like growth factor. Several alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jul 2010] | 8 | 38996973 | 39105261 | Human | 281 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1606914 | ADGRE4P | adhesion G protein-coupled receptor E4, pseudogene | This gene is a member of the EGF-TM7 receptor gene family which is thought to play a role in leukocyte adhesion and migration. In other vertebrates, including nonhuman primates, this gene encodes a protein containing N-terminal EGF domains and a C-terminal transmembrane domain. Sequence evidence for the human gene, however, indicates nucleotide deletion in the genomic sequence would result in frameshift and early termination of translation. A protein expressed by this gene would be soluble rather than expressed on the cell surface. As the encoded protein has not been detected, this gene may represent a transcribed pseudogene. [provided by RefSeq, Aug 2008] | 19 | 6950758 | 6997851 | Human | 81 | description | gene, pseudo, VALIDATED [RefSeq] |
| 1313717 | ADGRE5 | adhesion G protein-coupled receptor E5 | This gene encodes a member of the EGF-TM7 subfamily of adhesion G protein-coupled receptors, which mediate cell-cell interactions. These proteins are cleaved by self-catalytic proteolysis into a large extracellular subunit and seven-span transmembrane subunit, w hich associate at the cell surface as a receptor complex. The encoded protein may play a role in cell adhesion as well as leukocyte recruitment, activation and migration, and contains multiple extracellular EGF-like repeats which mediate binding to chondroitin sulfate and the cell surface complement regulatory protein CD55. Expression of this gene may play a role in the progression of several types of cancer. Alternatively spliced transcript variants encoding multiple isoforms with 3 to 5 EGF-like repeats have been observed for this gene. This gene is found in a cluster with other EGF-TM7 genes on the short arm of chromosome 19. [provided by RefSeq, Jun 2011] | 19 | 14381444 | 14408723 | Human | 150 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1607055 | APPL1 | adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 | The protein encoded by this gene has been shown to be involved in the regulation of cell proliferation, and in the crosstalk between the adiponectin signalling and insulin signalling pathways. The encoded protein binds many other proteins, including RAB5A, DCC, AKT2, PIK3CA, adiponectin receptors, a nd proteins of the NuRD/MeCP1 complex. This protein is found associated with endosomal membranes, but can be released by EGF and translocated to the nucleus. [provided by RefSeq, Jul 2008] | 3 | 57227729 | 57273471 | Human | 245 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1605653 | APPL2 | adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2 | The protein encoded by this gene is one of two effectors of the small GTPase RAB5A/Rab5, which are involved in a signal transduction pathway. Both effectors contain an N-terminal Bin/Amphiphysin/Rvs (BAR) domain, a central pleckstrin homology (PH) domain, and a C-terminal phosphotyrosine binding (PT B) domain, and they bind the Rab5 through the BAR domain. They are associated with endosomal membranes and can be translocated to the nucleus in response to the EGF stimulus. They interact with the NuRD/MeCP1 complex (nucleosome remodeling and deacetylase /methyl-CpG-binding protein 1 complex) and are required for efficient cell proliferation. A chromosomal aberration t(12;22)(q24.1;q13.3) involving this gene and the PSAP2 gene results in 22q13.3 deletion syndrome, also known as Phelan-McDermid syndrome. [provided by RefSeq, Oct 2011] | 12 | 105173300 | 105236174 | Human | 199 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1345760 | AREG | amphiregulin | The protein encoded by this gene is a member of the epidermal growth factor family. It is an autocrine growth factor as well as a mitogen for astrocytes, Schwann cells and fibroblasts. It is related to epidermal growth factor (EGF) and transforming growth factor alpha (TGF-alpha). The protein interacts with the EGF/TGF-alpha receptor to promote the growth of normal epithelial cells, and it inhibits the growth of certain aggressive carcinoma cell lines. It also functions in mammary gland, oocyte and bone tissue development. This gene is associated with a psoriasis-like skin phenotype, and is also associated with other pathological disorders, including various types of cancers and inflammatory conditions. [provided by RefSeq, Apr 2014] | 4 | 74445136 | 74455005 | Human | 453 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1323751 | ASPH | aspartate beta-hydroxylase | This gene is thought to play an important role in calcium homeostasis. The gene is expressed from two promoters and undergoes extensive alternative splicing. The encoded set of proteins share varying amounts of overlap near their N-termini but have substantial variations in their C-terminal domains resulting in distinct functional properties. The longest isoforms (a and f) include a C-terminal Aspartyl/Asparaginyl beta-hydroxylase domain that hydroxylates aspartic acid or asparagine residues in the epidermal growth factor (EGF)-like domains of some proteins, including protein C, coagulation factors VII, IX, and X, and the complement factors C1R and C1S. Other isoforms differ primarily in the C-terminal sequence and lack the hydroxylase domain, and some have been localized to the endoplasmic and sarcoplasmic reticulum. Some of these isoforms are found in complexes with calsequestrin, triadin, and the ryanodine receptor, and have been shown to regulate calcium release from the sarcoplasmic reticulum. Some isoforms have been implicated in metastasis. [provided by RefSeq, Sep 2009] | 8 | 61500556 | 61714592 | Human | 375 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1606954 | CCDC50 | coiled-coil domain containing 50 | This gene encodes a soluble, cytoplasmic, tyrosine-phosphorylated protein with multiple ubiquitin-interacting domains. Mutations in this gene cause nonsyndromic, postlingual, progressive sensorineural DFNA44 hearing loss. In mouse, the protein is expressed in the inner ear during development and pos tnatal maturation and associates with microtubule-based structures. This protein may also function as a negative regulator of NF-kB signaling and as an effector of epidermal growth factor (EGF)-mediated cell signaling. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008] | 3 | 191329394 | 191398659 | Human | 106 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 736605 | COMP | cartilage oligomeric matrix protein | The protein encoded by this gene is a noncollagenous extracellular matrix (ECM) protein. It consists of five identical glycoprotein subunits, each with EGF-like and calcium-binding (thrombospondin-like) domains. Oligomerization results from formation of a five-s tranded coiled coil and disulfides. Binding to other ECM proteins such as collagen appears to depend on divalent cations. Contraction or expansion of a 5 aa aspartate repeat and other mutations can cause pseudochondroplasia (PSACH) and multiple epiphyseal dysplasia (MED). [provided by RefSeq, Jul 2016] | 19 | 18782773 | 18791305 | Human | 399 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 735462 | DLL3 | delta like canonical Notch ligand 3 | This gene encodes a member of the delta protein ligand family. This family functions as Notch ligands that are characterized by a DSL domain, EGF repeats, and a transmembrane domain. Mutations in this gene cause autosomal recessive spondylocostal dysostosis 1. T wo transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] | 19 | 39498947 | 39508469 | Human | 298 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1320241 | DLL4 | delta like canonical Notch ligand 4 | This gene is a homolog of the Drosophila delta gene. The delta gene family encodes Notch ligands that are characterized by a DSL domain, EGF repeats, and a transmembrane domain. [provided by RefSeq, Jul 2008] | 15 | 40929340 | 40939073 | Human | 399 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 2303680 | ECSCR | endothelial cell surface expressed chemotaxis and apoptosis regulator | The protein encoded by this gene is primarily found in endothelial cells and blood vessels, where it is involved in cell shape changes and EGF-induced cell migration. It can enhance the activation of vascular endothelial growth factor receptor-2/kinase insert do main receptor and also promote the proteolysis of internalized kinase insert domain receptor. This gene may play a role in angiogenesis-related diseases. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014] | 5 | 139448560 | 139462743 | Human | 63 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1313642 | EPS15 | epidermal growth factor receptor pathway substrate 15 | This gene encodes a protein that is part of the EGFR pathway. The protein is present at clatherin-coated pits and is involved in receptor-mediated endocytosis of EGF. Notably, this gene is rearranged with the HRX/ALL/MLL gen e in acute myelogeneous leukemias. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2009] | 1 | 51354263 | 51519266 | Human | 169 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 733426 | ERBB3 | erb-b2 receptor tyrosine kinase 3 | This gene encodes a member of the epidermal growth factor receptor (EGFR) family of receptor tyrosine kinases. This membrane-bound protein has a neuregulin binding domain but not an active kinase domain. It therefore can bind this ligand but not convey the signa l into the cell through protein phosphorylation. However, it does form heterodimers with other EGF receptor family members which do have kinase activity. Heterodimerization leads to the activation of pathways which lead to cell proliferation or differentiation. Amplification of this gene and/or overexpression of its protein have been reported in numerous cancers, including prostate, bladder, and breast tumors. Alternate transcriptional splice variants encoding different isoforms have been characterized. One isoform lacks the intermembrane region and is secreted outside the cell. This form acts to modulate the activity of the membrane-bound form. Additional splice variants have also been reported, but they have not been thoroughly characterized. [provided by RefSeq, Jul 2008] | 12 | 56080108 | 56103505 | Human | 505 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 730898 | EREG | epiregulin | This gene encodes a secreted peptide hormone and member of the epidermal growth factor (EGF) family of proteins. The encoded protein is a ligand of the epidermal growth factor receptor (EGFR) and the structurally related erb -b2 receptor tyrosine kinase 4 (ERBB4). The encoded protein may be involved in a wide range of biological processes including inflammation, wound healing, oocyte maturation, and cell proliferation. Additionally, the encoded protein may promote the progression of cancers of various human tissues. [provided by RefSeq, Jul 2015] | 4 | 74365145 | 74388749 | Human | 351 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1342967 | F10 | coagulation factor X | This gene encodes the vitamin K-dependent coagulation factor X of the blood coagulation cascade. This factor undergoes multiple processing steps before its preproprotein is converted to a mature two-chain form by the excision of the tripeptide RKR. Two chains of the factor are held together by 1 or more disulfide bonds; the light chain contains 2 EGF-like domains, while the heavy chain contains the catalytic domain which is structurally homologous to those of the other hemostatic serine proteases. The mature factor is activated by the cleavage of the activation peptide by factor IXa (in the intrisic pathway), or by factor VIIa (in the extrinsic pathway). The activated factor then converts prothrombin to thrombin in the presence of factor Va, Ca+2, and phospholipid during blood clotting. Mutations of this gene result in factor X deficiency, a hemorrhagic condition of variable severity. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing to generate mature polypeptides. [provided by RefSeq, Aug 2015] | 13 | 113122799 | 113149529 | Human | 313 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1345372 | F12 | coagulation factor XII | This gene encodes coagulation factor XII which circulates in blood as a zymogen. This single chain zymogen is converted to a two-chain serine protease with an heavy chain (alpha-factor XIIa) and a light chain. The heavy chain contains two fibronectin-type domains, two epidermal growth factor (EGF style='font-weight:700;'>EGF)-like domains, a kringle domain and a proline-rich domain, whereas the light chain contains only a catalytic domain. On activation, further cleavages takes place in the heavy chain, resulting in the production of beta-factor XIIa light chain and the alpha-factor XIIa light chain becomes beta-factor XIIa heavy chain. Prekallikrein is cleaved by factor XII to form kallikrein, which then cleaves factor XII first to alpha-factor XIIa and then to beta-factor XIIa. The active factor XIIa participates in the initiation of blood coagulation, fibrinolysis, and the generation of bradykinin and angiotensin. It activates coagulation factors VII and XI. Defects in this gene do not cause any clinical symptoms and the sole effect is that whole-blood clotting time is prolonged. [provided by RefSeq, Jul 2008] | 5 | 177402141 | 177409564 | Human | 327 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1345586 | F7 | coagulation factor VII | This gene encodes coagulation factor VII which is a vitamin K-dependent factor essential for hemostasis. This factor circulates in the blood in a zymogen form, and is converted to an active form by either factor IXa, factor Xa, factor XIIa, or thrombin by minor proteolysis. Upon activation of the fa ctor VII, a heavy chain containing a catalytic domain and a light chain containing 2 EGF-like domains are generated, and two chains are held together by a disulfide bond. In the presence of factor III and calcium ions, the activated factor then further activates the coagulation cascade by converting factor IX to factor IXa and/or factor X to factor Xa. Defects in this gene can cause coagulopathy. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing to generate mature polypeptides. [provided by RefSeq, Aug 2015] | 13 | 113105791 | 113120685 | Human | 577 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 732531 | FAT1 | FAT atypical cadherin 1 | This gene is an ortholog of the Drosophila fat gene, which encodes a tumor suppressor essential for controlling cell proliferation during Drosophila development. The gene product is a member of the cadherin superfamily, a group of integral membrane proteins characterized by the presence of cadherin- type repeats. In addition to containing 34 tandem cadherin-type repeats, the gene product has five epidermal growth factor (EGF)-like repeats and one laminin A-G domain. This gene is expressed at high levels in a number of fetal epithelia. Its product probably functions as an adhesion molecule and/or signaling receptor, and is likely to be important in developmental processes and cell communication. Transcript variants derived from alternative splicing and/or alternative promoter usage exist, but they have not been fully described. [provided by RefSeq, Jul 2008] | 4 | 186587794 | 186726696 | Human | 279 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1342843 | GAREM1 | GRB2 associated regulator of MAPK1 subtype 1 | This gene encodes an adaptor protein which functions in the epidermal growth factor (EGF) receptor-mediated signaling pathway. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] | 18 | 32263522 | 32470882 | Human | 97 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1601901 | GPR179 | G protein-coupled receptor 179 | This gene encodes a member of the glutamate receptor subfamily of G protein-coupled receptors. The encoded protein has an EGF-like calcium binding domain and a seven transmembrane domain in the N-terminal region of the protein. Mutations in this gene are associa ted with congenital stationary night blindness type 1E. [provided by RefSeq, Apr 2012] | 17 | 38324571 | 38343956 | Human | 153 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1606923 | GXYLT1 | glucoside xylosyltransferase 1 | GXYLT1 is a xylosyltransferase (EC 2.4.2.-) that adds the first xylose to O-glucose-modified residues in the epidermal growth factor (EGF; MIM 131530) repeats of proteins such as NOTCH1 (MIM 190198) (Sethi et al., 2010 [PubMed 19940119]).[supplied by OMIM, Mar 2 010] | 12 | 42081845 | 42144874 | Human | 84 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 1314859 | LAMB1 | laminin subunit beta 1 | Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the beta chain isoform laminin, beta 1. The beta 1 chain has 7 structurally distinct domains which it shares with other beta chain isomers. The C-terminal helical region containing domains I and II are separated by domain alpha, domains III and V contain several EGF-like repeats, and domains IV and VI have a globular conformation. Laminin, beta 1 is expressed in most tissues that produce basement membranes, and is one of the 3 chains constituting laminin 1, the first laminin isolated from Engelbreth-Holm-Swarm (EHS) tumor. A sequence in the beta 1 chain that is involved in cell attachment, chemotaxis, and binding to the laminin receptor was identified and shown to have the capacity to inhibit metastasis. [provided by RefSeq, Aug 2011] | 7 | 107923799 | 108003161 | Human | 306 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 733264 | NELL1 | neural EGFL like 1 | This gene encodes a cytoplasmic protein that contains epidermal growth factor (EGF)-like repeats. The encoded heterotrimeric protein may be involved in cell growth regulation and differentiation. A similar protein in rodents is involved in craniosynostosis. Alte rnative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013] | 11 | 20669551 | 21575686 | Human | 119 | name , description | gene, protein-coding, REVIEWED [RefSeq] |
| 732316 | NELL2 | neural EGFL like 2 | The protein encoded by this gene is a glycoprotein containing several von Willebrand factor C domains and epidermal growth factor (EGF)-like domains. The encoded protein acts as a homotrimer and is found in the cytoplasm. Several variants encoding a few differen t isoforms exist, and at least one isoform appears to be a secreted protein. Studies in mouse suggest that this protein plays a role in neural cell growth and differentiation as well as in oncogenesis. [provided by RefSeq, Feb 2009] | 12 | 44508275 | 44921848 | Human | 141 | name , description | gene, protein-coding, REVIEWED [RefSeq] |
| 737367 | NOTCH1 | notch receptor 1 | This gene encodes a member of the NOTCH family of proteins. Members of this Type I transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracell ular domain consisting of multiple different domain types. Notch signaling is an evolutionarily conserved intercellular signaling pathway that regulates interactions between physically adjacent cells through binding of Notch family receptors to their cognate ligands. The encoded preproprotein is proteolytically processed in the trans-Golgi network to generate two polypeptide chains that heterodimerize to form the mature cell-surface receptor. This receptor plays a role in the development of numerous cell and tissue types. Mutations in this gene are associated with aortic valve disease, Adams-Oliver syndrome, T-cell acute lymphoblastic leukemia, chronic lymphocytic leukemia, and head and neck squamous cell carcinoma. [provided by RefSeq, Jan 2016] | 9 | 136494433 | 136546048 | Human | 1616 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 733357 | NOTCH2 | notch receptor 2 | This gene encodes a member of the Notch family. Members of this Type 1 transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple, different domain types. Notch family members play a role in a variety of developmental processes by controlling cell fate decisions. The Notch signaling network is an evolutionarily conserved intercellular signaling pathway which regulates interactions between physically adjacent cells. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signaling pathway that plays a key role in development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human notch homologues remain to be determined. This protein is cleaved in the trans-Golgi network, and presented on the cell surface as a heterodimer. This protein functions as a receptor for membrane bound ligands, and may play a role in vascular, renal and hepatic development. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011] | 1 | 119911553 | 120069662 | Human | 670 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1354309 | NOTCH4 | notch receptor 4 | This gene encodes a member of the NOTCH family of proteins. Members of this Type I transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracell ular domain consisting of multiple different domain types. Notch signaling is an evolutionarily conserved intercellular signaling pathway that regulates interactions between physically adjacent cells through binding of Notch family receptors to their cognate ligands. The encoded preproprotein is proteolytically processed in the trans-Golgi network to generate two polypeptide chains that heterodimerize to form the mature cell-surface receptor. This receptor may play a role in vascular, renal and hepatic development. Mutations in this gene may be associated with schizophrenia. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016] | 6 | 32194843 | 32224067 | Human | 213 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 731928 | NRDC | nardilysin convertase | This gene encodes a zinc-dependent endopeptidase that cleaves peptide substrates at the N-terminus of arginine residues in dibasic moieties and is a member of the peptidase M16 family. This protein interacts with heparin-binding EGF-like growth factor and plays a role in cell migration and proliferation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011] | 1 | 51789210 | 51878727 | Human | 91 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 735900 | NRXN2 | neurexin 2 | This gene encodes a member of the neurexin gene family. The products of these genes function as cell adhesion molecules and receptors in the vertebrate nervous system. These genes utilize two promoters. The majority of transcripts are produced from the upstream promoter and encode alpha-neurexin iso forms while a smaller number of transcripts are produced from the downstream promoter and encode beta-neuresin isoforms. The alpha-neurexins contain epidermal growth factor-like (EGF-like) sequences and laminin G domains, and have been shown to interact with neurexophilins. The beta-neurexins lack EGF-like sequences and contain fewer laminin G domains than alpha-neurexins. Alternative splicing and the use of alternative promoters may generate thousands of transcript variants (PMID: 12036300, PMID: 11944992).[provided by RefSeq, Jun 2010] | 11 | 64606174 | 64723197 | Human | 195 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1353595 | NRXN3 | neurexin 3 | This gene encodes a member of a family of proteins that function in the nervous system as receptors and cell adhesion molecules. Extensive alternative splicing and the use of alternative promoters results in multiple transcript variants and protein isoforms for this gene, but the full-length nature of many of these variants has not been determined. Transcripts that initiate from an upstream promoter encode alpha isoforms, which contain epidermal growth factor-like (EGF-like) sequences and laminin G domains. Transcripts initiating from the downstream promoter encode beta isoforms, which lack EGF-like sequences. Genetic variation at this locus has been associated with a range of behavioral phenotypes, including alcohol dependence and autism spectrum disorder. [provided by RefSeq, Dec 2012] | 14 | 78170373 | 79868291 | Human | 195 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1350531 | NTNG1 | netrin G1 | This gene encodes a preproprotein that is processed into a secreted protein containing eukaroytic growth factor (EGF)-like domains. This protein acts to guide axon growth during neuronal development. Polymorphisms in this gene may be associated with schizophreni a. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Aug 2015] | 1 | 107140088 | 107484923 | Human | 158 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1316469 | POFUT2 | protein O-fucosyltransferase 2 | Fucose is typically found as a terminal modification of branched chain glycoconjugates, but it also exists in direct O-linkage to serine or threonine residues within cystine knot motifs in epidermal growth factor (EGF; MIM 131530)-like repeats or thrombospondin (THBS; see MIM 188060) type-1 repeats. POFUT2 is an O-fucosyltransferase that use THBS type-1 repeats as substrates (Luo et al., 2006 [PubMed 16464857]).[supplied by OMIM, Mar 2008] | 21 | 45263935 | 45287895 | Human | 97 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 731722 | PPT2 | palmitoyl-protein thioesterase 2 | This gene encodes a member of the palmitoyl-protein thioesterase family. The encoded glycosylated lysosomal protein has palmitoyl-CoA hydrolase activity in vitro, but does not hydrolyze palmitate from cysteine residues in proteins. Alternative splicing results in multiple transcript variants. Read-t hrough transcription also exists between this gene and the downstream EGFL8 (EGF-like-domain, multiple 8) gene. [provided by RefSeq, Feb 2011] | 6 | 32153528 | 32163675 | Human | 73 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 736831 | SELE | selectin E | The protein encoded by this gene is found in cytokine-stimulated endothelial cells and is thought to be responsible for the accumulation of blood leukocytes at sites of inflammation by mediating the adhesion of cells to the vascular lining. It exhibits structural features such as the presence of lec tin- and EGF-like domains followed by short consensus repeat (SCR) domains that contain 6 conserved cysteine residues. These proteins are part of the selectin family of cell adhesion molecules. Adhesion molecules participate in the interaction between leukocytes and the endothelium and appear to be involved in the pathogenesis of atherosclerosis. [provided by RefSeq, Jul 2008] | 1 | 169722640 | 169734079 | Human | 335 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 732184 | STAT1 | signal transducer and activator of transcription 1 | The protein encoded by this gene is a member of the STAT protein family. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription ac tivators. The protein encoded by this gene can be activated by various ligands including interferon-alpha, interferon-gamma, EGF, PDGF and IL6. This protein mediates the expression of a variety of genes, which is thought to be important for cell viability in response to different cell stimuli and pathogens. The protein plays an important role in immune responses to viral, fungal and mycobacterial pathogens. Mutations in this gene are associated with Immunodeficiency 31B, 31A, and 31C. [provided by RefSeq, Jun 2020] | 2 | 190969149 | 191014171 | Human | 999 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 737517 | STAT3 | signal transducer and activator of transcription 3 | The protein encoded by this gene is a member of the STAT protein family. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription ac tivators. This protein is activated through phosphorylation in response to various cytokines and growth factors including IFNs, EGF, IL5, IL6, HGF, LIF and BMP2. This protein mediates the expression of a variety of genes in response to cell stimuli, and thus plays a key role in many cellular processes such as cell growth and apoptosis. The small GTPase Rac1 has been shown to bind and regulate the activity of this protein. PIAS3 protein is a specific inhibitor of this protein. This gene also plays a role in regulating host response to viral and bacterial infections. Mutations in this gene are associated with infantile-onset multisystem autoimmune disease and hyper-immunoglobulin E syndrome. [provided by RefSeq, Aug 2020] | 17 | 42313324 | 42388442 | Human | 2045 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1354144 | TNC | tenascin C | This gene encodes an extracellular matrix protein with a spatially and temporally restricted tissue distribution. This protein is homohexameric with disulfide-linked subunits, and contains multiple EGF-like and fibronectin type-III domains. It is implicated in g uidance of migrating neurons as well as axons during development, synaptic plasticity, and neuronal regeneration. [provided by RefSeq, Jul 2011] | 9 | 115019575 | 115118157 | Human | 428 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 736503 | USH2A | usherin | This gene encodes a protein that contains laminin EGF motifs, a pentaxin domain, and many fibronectin type III motifs. The protein is found in the basement membrane, and may be important in development and homeostasis of the inner ear and retina. Mutations withi n this gene have been associated with Usher syndrome type IIa and retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008] | 1 | 215622891 | 216423448 | Human | 3045 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 731989 | WIF1 | Wnt inhibitory factor 1 | The protein encoded by this gene functions to inhibit WNT proteins, which are extracellular signaling molecules that play a role in embryonic development. This protein contains a WNT inhibitory factor (WIF) domain and five epidermal growth factor (EGF)-like doma ins, and is thought to be involved in mesoderm segmentation. This gene functions as a tumor suppressor gene, and has been found to be epigenetically silenced in various cancers. [provided by RefSeq, Jun 2010] | 12 | 65050626 | 65121305 | Human | 144 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 8162430 | ELDR | EGFR long non-coding downstream RNA | Predicted to act upstream of or within regulation of gene expression and response to wounding. [provided by Alliance of Genome Resources, Jul 2025] | 7 | 55238436 | 55255635 | Human | 8 | name | gene, ncrna, VALIDATED [RefSeq] |
| 1321587 | EPS8 | EGFR pathway substrate 8, signaling adaptor | This gene encodes a member of the EPS8 family. This protein contains one PH domain and one SH3 domain. It functions as part of the EGFR pathway, though its exact role has not been determined. Highly similar proteins in other organisms are involved in the transdu ction of signals from Ras to Rac and growth factor-mediated actin remodeling. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008] | 12 | 15620134 | 15789388 | Human | 242 | name , description | gene, protein-coding, REVIEWED [RefSeq] |
| 16552877 | EUDAL | EGFR ubiquitination and degradation associated lncRNA | | | | | Human | | name | gene, lncrna |
| 629021557 | EUDAL | EGFR ubiquitination and degradation associated lncRNA | | | | | Human | | name | gene, ncrna |
| 16552643 | AC241585.1 | EGFR-coamplified and overexpressed protein (ECOP) pseudogene | | | | | Human | | name | gene, processed_pseudogene |
| 1605377 | KLHDC8A | kelch domain containing 8A | This gene encodes a kelch domain-containing protein which is upregulated in cancer. Upregulated expression of the encoded protein may provide an alternative pathway for tumors to maintain aggressiveness in the absence of epidermal growth factor receptor dependence. Alternative splicing results in mu ltiple transcript variants. [provided by RefSeq, Dec 2012] | 1 | 205336061 | 205357039 | Human | 77 | old_gene_name | gene, protein-coding, REVIEWED [RefSeq] |
| 1602094 | VOPP1 | VOPP1 WW domain binding protein | Enables enzyme binding activity. Located in cytoplasmic vesicle membrane; late endosome; and lysosome. [provided by Alliance of Genome Resources, Jul 2025] | 7 | 55434964 | 55572502 | Human | 95 | old_gene_name | gene, protein-coding, VALIDATED [RefSeq] |
| 733273 | GRB7 | growth factor receptor bound protein 7 | The product of this gene belongs to a small family of adapter proteins that are known to interact with a number of receptor tyrosine kinases and signaling molecules. This gene encodes a growth factor receptor-binding protein that interacts with epidermal growth factor receptor (EGF ght:700;'>EGFR) and ephrin receptors. The protein plays a role in the integrin signaling pathway and cell migration by binding with focal adhesion kinase (FAK). Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2011] | 17 | 39737938 | 39747285 | Human | 164 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1606150 | NRG4 | neuregulin 4 | The neuregulins, including NRG4, activate type-1 growth factor receptors (see EGFR; MIM 131550) to initiating cell-to-cell signaling through tyrosine phosphorylation (Harari et al., 1999 [PubMed 10348342]).[supplied by OMIM, Mar 2008] | 15 | 75935393 | 76060240 | Human | 88 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 1347457 | RAB11FIP1 | RAB11 family interacting protein 1 | This gene encodes one of the Rab11-family interacting proteins (Rab11-FIPs), which play a role in the Rab-11 mediated recycling of vesicles. The encoded protein may be involved in endocytic sorting, trafficking of proteins including integrin subunits and epidermal growth factor receptor (EGF ='font-weight:700;'>EGFR), and transport between the recycling endosome and the trans-Golgi network. Alternative splicing results in multiple transcript variants. A pseudogene is described on the X chromosome. [provided by RefSeq, Dec 2013] | 8 | 37858618 | 37899497 | Human | 109 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 1605862 | SH3D19 | SH3 domain containing 19 | This gene encodes a multiple SH3 domain-containing protein, which interacts with other proteins, such as EBP and members of ADAM family, via the SH3 domains. This protein may be involved in suppression of Ras-induced cellular transformation and Ras-mediated activation of ELK1 by EBP, and regulation of ADAM proteins in the signaling of EGFR-ligand shedding. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] | 4 | 151120281 | 151325605 | Human | 110 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1603723 | SPINK9 | serine peptidase inhibitor Kazal type 9 | The protein encoded by this gene is a Kazal-type serine protease inhibitor that appears to specifically target kallikrein-related peptidase 5 (KLK5) in the palmo-plantar epidermis. KLK5 is an important initiator of skin desquamation, so the encoded protease inhibitor may regulate skin differentiatio n in the palms of hands and soles of feet. This cationic protein has also been shown to promote keratinocyte migration by activation of the epidermal growth factor receptor (EGFR). [provided by RefSeq, Dec 2015] | 5 | 148321305 | 148339852 | Human | 18 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1605914 | UBASH3B | ubiquitin associated and SH3 domain containing B | This gene encodes a protein that contains a ubiquitin associated domain at the N-terminus, an SH3 domain, and a C-terminal domain with similarities to the catalytic motif of phosphoglycerate mutase. The encoded protein was found to inhibit endocytosis of epidermal growth factor receptor (EGF ='font-weight:700;'>EGFR) and platelet-derived growth factor receptor. [provided by RefSeq, Jul 2008] | 11 | 122655722 | 122814473 | Human | 151 | description | gene, protein-coding, VALIDATED [RefSeq] |
