| 1345811 | EBP | EBP cholestenol delta-isomerase | The protein encoded by this gene is an integral membrane protein of the endoplasmic reticulum. It is a high affinity binding protein for the antiischemic phenylalkylamine Ca2+ antagonist [3H]emopamil and the photoaffinity label [3H]azidopamil. It is similar to sigma receptors and may be a member of a superfamily of high affinity drug-binding proteins in the endoplasmic reticulum of different tissues. This protein shares structural features with bacterial and eukaryontic drug transporting proteins. It has four putative transmembrane segments and contains two conserved glutamate residues which may be involved in the transport of cationic amphiphilics. Another prominent feature of this protein is its high content of aromatic amino acid residues (>23%) in its transmembrane segments. These aromatic amino acid residues have been suggested to be involved in the drug transport by the P-glycoprotein. Mutations in this gene cause Chondrodysplasia punctata 2 (CDPX2; also known as Conradi-Hunermann syndrome). [provided by RefSeq, Jul 2008] | X | 48521808 | 48528716 | Human | 471 | symbol , old_gene_name , COSMIC , name , Human Proteome Map | gene, protein-coding, REVIEWED [RefSeq] |
| 1347574 | GLB1 | galactosidase beta 1 | This gene encodes a member of the glycosyl hydrolase 35 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 mature lysosomal enzyme. This enzyme catalyzes the hydrolysis of a terminal beta-linked galactose residue from ganglioside substrates and other glycoconjugates. Mutations in this gene may result in GM1-gangliosidosis and Morquio B syndrome. [provided by RefSeq, Nov 2015] | 3 | 32961108 | 33097146 | Human | 931 | old_gene_symbol | gene, protein-coding, REVIEWED [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 acti vation 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 , old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 730892 | NFKB1 | nuclear factor kappa B subunit 1 | This gene encodes a 105 kD protein which can undergo cotranslational processing by the 26S proteasome to produce a 50 kD protein. The 105 kD protein is a Rel protein-specific transcription inhibitor and the 50 kD protein is a DNA binding subunit of the NF-kappa-B (NFKB) protein complex. NFKB is a tr anscription regulator that is activated by various intra- and extra-cellular stimuli such as cytokines, oxidant-free radicals, ultraviolet irradiation, and bacterial or viral products. Activated NFKB translocates into the nucleus and stimulates the expression of genes involved in a wide variety of biological functions. Inappropriate activation of NFKB has been associated with a number of inflammatory diseases while persistent inhibition of NFKB leads to inappropriate immune cell development or delayed cell growth. NFKB is a critical regulator of the immediate-early response to viral infection. Alternative splicing results in multiple transcript variants encoding different isoforms, at least one of which is proteolytically processed. [provided by RefSeq, Aug 2020] | 4 | 102501359 | 102617302 | Human | 1447 | old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 732483 | NKX2-1 | NK2 homeobox 1 | This gene encodes a protein initially identified as a thyroid-specific transcription factor. The encoded protein binds to the thyroglobulin promoter and regulates the expression of thyroid-specific genes but has also been shown to regulate the expression of genes involved in morphogenesis. Mutations and deletions in this gene are associated with benign hereditary chorea, choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress, and may be associated with thyroid cancer. Multiple transcript variants encoding different isoforms have been found for this gene. This gene shares the symbol/alias 'TTF1' with another gene, transcription termination factor 1, which plays a role in ribosomal gene transcription. [provided by RefSeq, Feb 2014] | 14 | 36516397 | 36520232 | Human | 351 | old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 1350900 | FCN2 | ficolin 2 | The product of this gene belongs to the ficolin family of proteins. This family is characterized by the presence of a leader peptide, a short N-terminal segment, followed by a collagen-like region, and a C-terminal fibrinogen-like domain. This gene is predominantly expressed in the liver, and has be en shown to have carbohydrate binding and opsonic activities. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] | 9 | 134864144 | 134887523 | Human | 59 | old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 735927 | CEBPG | CCAAT enhancer binding protein gamma | The C/EBP family of transcription factors regulates viral and cellular CCAAT/enhancer element-mediated transcription. C/EBP proteins contain the bZIP region, which is characterized by two motifs in the C-terminal half of the protein: a basic region involved in DNA binding and a leucine zipper motif involved in dimerization. The C/EBP family consist of several related proteins, C/EBP alpha, C/EBP beta, C/EBP gamma, and C/EBP delta, that form homodimers and that form heterodimers with each other. CCAAT/enhancer binding protein gamma may cooperate with Fos to bind PRE-I enhancer elements. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Nov 2011] | 19 | 33373709 | 33382686 | Human | 197 | symbol , old_gene_name , COSMIC , description , Human Proteome Map , old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 736208 | CEBPB | CCAAT enhancer binding protein beta | This intronless gene encodes a transcription factor that contains a basic leucine zipper (bZIP) domain. The encoded protein functions as a homodimer but can also form heterodimers with CCAAT/enhancer-binding proteins alpha, delta, and gamma. Activity of this protein is important in the regulation of genes involved in immune and inflammatory responses, among other processes. The use of alternative in-frame AUG start codons results in multiple protein isoforms, each with distinct biological functions. [provided by RefSeq, Oct 2013] | 20 | 50190583 | 50192690 | Human | 772 | symbol , old_gene_name , COSMIC , Human Proteome Map , old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 69165 | DDIT3 | DNA damage inducible transcript 3 | This gene encodes a member of the CCAAT/enhancer-binding protein (C/EBP) family of transcription factors. The protein functions as a dominant-negative inhibitor by forming heterodimers with other C/EBP members, such as C/... (more) an style='font-weight:700;'>EBP and LAP (liver activator protein), and preventing their DNA binding activity. The protein is implicated in adipogenesis and erythropoiesis, is activated by endoplasmic reticulum stress, and promotes apoptosis. Fusion of this gene and FUS on chromosome 16 or EWSR1 on chromosome 22 induced by translocation generates chimeric proteins in myxoid liposarcomas or Ewing sarcoma. Multiple alternatively spliced transcript variants encoding two isoforms with different length have been identified. [provided by RefSeq, Aug 2010] | 12 | 57516588 | 57520517 | Human | 1635 | old_gene_name , description , old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 69121 | CEBPA | CCAAT enhancer binding protein alpha | This intronless gene encodes a transcription factor that contains a basic leucine zipper (bZIP) domain and recognizes the CCAAT motif in the promoters of target genes. The encoded protein functions in homodimers and also heterodimers with CCAAT/enhancer-binding proteins beta and gamma. Activity of t his protein can modulate the expression of genes involved in cell cycle regulation as well as in body weight homeostasis. Mutation of this gene is associated with acute myeloid leukemia. The use of alternative in-frame non-AUG (GUG) and AUG start codons results in protein isoforms with different lengths. Differential translation initiation is mediated by an out-of-frame, upstream open reading frame which is located between the GUG and the first AUG start codons. [provided by RefSeq, Dec 2013] | 19 | 33299934 | 33302534 | Human | 1690 | symbol , old_gene_name , COSMIC , Human Proteome Map , old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 736554 | CEBPD | CCAAT enhancer binding protein delta | The protein encoded by this intronless gene is a bZIP transcription factor which can bind as a homodimer to certain DNA regulatory regions. It can also form heterodimers with the related protein CEBP-alpha. The encoded protein is important in the regulation of g enes involved in immune and inflammatory responses, and may be involved in the regulation of genes associated with activation and/or differentiation of macrophages. The cytogenetic location of this locus has been reported as both 8p11 and 8q11. [provided by RefSeq, Sep 2010] | 8 | 47736913 | 47738164 | Human | 344 | symbol , old_gene_name , COSMIC , description , Human Proteome Map , old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 733093 | CEBPE | CCAAT enhancer binding protein epsilon | The protein encoded by this gene is a bZIP transcription factor which can bind as a homodimer to certain DNA regulatory regions. It can also form heterodimers with the related protein CEBP-delta. The encoded protein may be essential for terminal differentiation and functional maturation of committed granulocyte progenitor cells. Mutations in this gene have been associated with Specific Granule Deficiency, a rare congenital disorder. Multiple variants of this gene have been described, but the full-length nature of only one has been determined. [provided by RefSeq, Jul 2008] | 14 | 23117306 | 23119255 | Human | 161 | symbol , old_gene_name , COSMIC , description , Human Proteome Map , old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 1312086 | EBPL | EBP like | Predicted to enable cholestenol delta-isomerase activity. Predicted to be involved in sterol metabolic process. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Jul 2025] | 13 | 49660674 | 49691487 | Human | 80 | symbol , COSMIC , name , Human Proteome Map | gene, protein-coding, VALIDATED [RefSeq] |
| 38621444 | LOC729217 | EBP like pseudogene | | 16 | 64260326 | 64261241 | Human | | name | gene, pseudo, INFERRED [RefSeq] |
| 1604587 | FAM117A | family with sequence similarity 117 member A | INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 2-deoxy-D-glucose | 17 | 49710332 | 49789110 | Human | 85 | old_gene_name | gene, protein-coding, VALIDATED [RefSeq] |
| 16552843 | PORCN-DT | PORCN divergent transcript | | X | 48506526 | 48508839 | Human | | old_gene_name | gene, ncrna, VALIDATED [RefSeq] |
| 1312755 | CEBPZ | CCAAT enhancer binding protein zeta | This gene belongs to the CBF/Mak21 family. The encoded protein plays a role in cellular response to environmental stimuli through a transcriptional process that involves heat shock factors, conserved DNA elements (heat shock elements or HSEs) and CCAAT boxes. The protein acts as a DNA-binding transc riptional activator and regulates the heat-shock protein 70 (HSP70) promoter in a CCAAT-dependent manner. The protein is also involved in cell growth and differentiation, particularly, hematopoietic differentiation. [provided by RefSeq, Nov 2020] | 2 | 37201612 | 37231596 | Human | 83 | symbol , old_gene_name , COSMIC , Human Proteome Map | gene, protein-coding, REVIEWED [RefSeq] |
| 1349693 | RETN | resistin | This gene belongs to the family defined by the mouse resistin-like genes. The characteristic feature of this family is the C-terminal stretch of 10 cys residues with identical spacing. The mouse homolog of this protein is secreted by adipocytes, and may be the hormone potentially linking obesity to type II diabetes. The encoded protein also has an antimicrobial role in skin, displaying antibacterial activity against both Gram positive and Gram negative bacteria. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2020] | 19 | 7669049 | 7670455 | Human | 246 | old_gene_name | gene, protein-coding, REVIEWED [RefSeq] |
| 1345045 | RETNLB | resistin like beta | Predicted to enable hormone activity. Involved in epithelial cell proliferation. Predicted to be located in extracellular region. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Jul 2025] | 3 | 108755638 | 108757410 | Human | 47 | old_gene_name | gene, protein-coding, VALIDATED [RefSeq] |
| 1313990 | EBNA1BP2 | EBNA1 binding protein 2 | Enables RNA binding activity. Predicted to be involved in rRNA processing and ribosomal large subunit biogenesis. Located in chromosome and nucleolus. [provided by Alliance of Genome Resources, Jul 2025] | 1 | 43164174 | 43172570 | Human | 116 | old_gene_name , old_gene_symbol | gene, protein-coding, VALIDATED [RefSeq] |
| 1354307 | PA2G4 | proliferation-associated 2G4 | This gene encodes an RNA-binding protein that is involved in growth regulation. This protein is present in pre-ribosomal ribonucleoprotein complexes and may be involved in ribosome assembly and the regulation of intermediate and late steps of rRNA processing. This protein can interact with the cytop lasmic domain of the ErbB3 receptor and may contribute to transducing growth regulatory signals. This protein is also a transcriptional co-repressor of androgen receptor-regulated genes and other cell cycle regulatory genes through its interactions with histone deacetylases. This protein has been implicated in growth inhibition and the induction of differentiation of human cancer cells. Six pseudogenes, located on chromosomes 3, 6, 9, 18, 20 and X, have been identified. [provided by RefSeq, Jul 2008] | 12 | 56104559 | 56113910 | Human | 181 | old_gene_name , old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 1342625 | NHERF1 | NHERF family PDZ scaffold protein 1 | This gene encodes a sodium/hydrogen exchanger regulatory cofactor. The protein interacts with and regulates various proteins including the cystic fibrosis transmembrane conductance regulator and G-protein coupled receptors such as the beta2-adrenergic receptor and the parathyroid hormone 1 receptor. The protein also interacts with proteins that function as linkers between integral membrane and cytoskeletal proteins. The protein localizes to actin-rich structures including membrane ruffles, microvilli, and filopodia. Mutations in this gene result in hypophosphatemic nephrolithiasis/osteoporosis type 2, and loss of heterozygosity of this gene is implicated in breast cancer.[provided by RefSeq, Sep 2009] | 17 | 74748628 | 74769353 | Human | 346 | old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 1344050 | CLEC4E | C-type lectin domain family 4 member E | 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. The enco ded type II transmembrane protein is a downstream target of CCAAT/enhancer binding protein (C/EBP), beta (CEBPB) and may play a role in inflammation. Alternative splice variants have been described but their full-length sequence has not been determined. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region. [provided by RefSeq, Jul 2008] | 12 | 8533275 | 8540905 | Human | 119 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 16562875 | AC093536.1 | emopamil binding protein-like (EBPL) pseudogene | | | | | Human | | name | gene, processed_pseudogene |
| 1347763 | STOML1 | stomatin like 1 | Predicted to enable ion channel inhibitor activity. Predicted to be involved in lipid transport. Predicted to act upstream of or within cellular response to leukemia inhibitory factor. Located in intracellular membrane-bounded organelle. [provided by Alliance of Genome Resources, Apr 2025] | 15 | 73978926 | 73994622 | Human | 69 | old_gene_name | gene, protein-coding, VALIDATED [RefSeq] |
| 1605322 | TBC1D10A | TBC1 domain family member 10A | Enables PDZ domain binding activity. Involved in positive regulation of proteolysis and retrograde transport, endosome to Golgi. Located in plasma membrane. [provided by Alliance of Genome Resources, Apr 2025] | 22 | 30291990 | 30326941 | Human | 89 | old_gene_name | gene, protein-coding, VALIDATED [RefSeq] |
| 1351441 | TRIB2 | tribbles pseudokinase 2 | This gene encodes one of three members of the Tribbles family. The Tribbles members share a Trb domain, which is homologous to protein serine-threonine kinases, but lacks the active site lysine and probably lacks a catalytic function. The Tribbles proteins interact and modulate the activity of signa l transduction pathways in a number of physiological and pathological processes. This Tribbles member induces apoptosis of cells mainly of the hematopoietic origin. It has been identified as a protein up-regulated by inflammatory stimuli in myeloid (THP-1) cells, and also as an oncogene that inactivates the transcription factor C/EBPalpha (CCAAT/enhancer-binding protein alpha) and causes acute myelogenous leukemia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009] | 2 | 12716936 | 12742734 | Human | 159 | description | gene, protein-coding, REVIEWED [RefSeq] |
