CEBPA (GeneID: 1050) | Homo sapiens
Description: CCAAT enhancer binding protein alpha [Source:HGNC Symbol;Acc:HGNC:1833]
Synonyms: C/EBP-alpha, CEBP
Other ID(s): HGNC:1833, ENSG00000245848
Protein Accession Numbers: NP_001272758, NP_001274364, ENST00000498907.2, NP_001274353, ENST00000498907, NP_004355
Statistics: ClinVar(391) PTM(12)
ClinVar Pathogenicity of Variations help

∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000498907 NP_001272758 NP_001274353 NP_001274364 You are here now! NP_004355


import_contactsClinVar Data
Variation ID filter_list Allele ID filter_list RS Number filter_list Variant Type filter_list Record filter_list Alteration filter_list Clinicial Sig. filter_list Last Update filter_list Phenotypes filter_list Cytogenetic filter_list Review Status filter_list RCV Acc.N. filter_list

healinggnomAD
Variant ID filter_list Transcript ID filter_list Alteration filter_list Annotation filter_list Allele C. filter_list Allele N. filter_list Allele F. filter_list rsNumber filter_list Flagsfilter_list Filter filter_list

placePost-translational Modifications (PTMs)
Gene Name filter_list ACC ID filter_list PTM Type filter_list Position filter_list Mod-rsd filter_list Site +/-7 Aa filter_list Mw_kd filter_list Site grpID filter_list

blur_onCatalogue of Somatic Mutations in Cancer (COSMIC)
Gene Name filter_list Transcript ID filter_list Sample name filter_list Primary Site filter_list Primary Histology filter_list Mutation ID filter_list Mutation CDS filter_list Mutation Aa filter_list Mutation Desc. filter_list FATHMM Prediction filter_list FATHMM Score filter_list Mutation Somatic Status filter_list PUBMED PMID filter_list Tumor Origin filter_list Position filter_list

chrome_reader_modedbSNP
Gene ID filter_list Transcript ID filter_list Consequence filter_list Position filter_list HGVSp filter_list Impact filter_list

format_align_centerProtein Domains (PFAM)
Pfam Domain filter_list Domain Name filter_list Description filter_list Positions filter_list Clan filter_list Clan Name filter_list Organism filter_list
NO RESULT FOUND
PF07716 bZIP_2 Basic region leucine zipper 281-334 CL0018 bZIP Homo sapiens

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Malignant neoplasm of skin Neoplasms ; Skin and Connective Tissue Diseases ; 0.533 0.586
Squamous cell carcinoma Neoplasms ; 0.533 0.586
Cytopenia N/A 0.533 0.586
Pathological accumulation of air in tissues Pathological Conditions, Signs and Symptoms ; 0.533 0.586
Head and Neck Neoplasms Neoplasms ; 0.533 0.586
Head Neoplasms Neoplasms ; 0.533 0.586
Female infertility Female Urogenital Diseases and Pregnancy Complications ; 0.533 0.586
Leukemia, Myelocytic, Acute Neoplasms ; 0.533 0.586
Acute Promyelocytic Leukemia Neoplasms ; 0.533 0.586
Acute Myeloid Leukemia, M1 Neoplasms ; 0.533 0.586
Neck Neoplasms Neoplasms ; 0.533 0.586
Neoplasms, Radiation-Induced Neoplasms ; Wounds and Injuries ; 0.533 0.586
Obesity Nutritional and Metabolic Diseases ; Pathological Conditions, Signs and Symptoms ; 0.533 0.586
Precancerous Conditions Neoplasms ; 0.533 0.586
Pulmonary Fibrosis Respiratory Tract Diseases ; 0.533 0.586
Skin Neoplasms Neoplasms ; Skin and Connective Tissue Diseases ; 0.533 0.586
Sterility, Postpartum Female Urogenital Diseases and Pregnancy Complications ; 0.533 0.586
Hamman-Rich syndrome Respiratory Tract Diseases ; 0.533 0.586
Congenital anemia N/A 0.533 0.586
Malignant Head and Neck Neoplasm Neoplasms ; 0.533 0.586
Condition, Preneoplastic Neoplasms ; 0.533 0.586
Subfertility, Female Female Urogenital Diseases and Pregnancy Complications ; 0.533 0.586
Hematologic Neoplasms Neoplasms ; Hemic and Lymphatic Diseases ; 0.533 0.586
Cancer of Neck Neoplasms ; 0.533 0.586
Cancer of Head Neoplasms ; 0.533 0.586
Radiation-Induced Cancer Neoplasms ; Wounds and Injuries ; 0.533 0.586
Upper Aerodigestive Tract Neoplasms Neoplasms ; 0.533 0.586
Female sterility Female Urogenital Diseases and Pregnancy Complications ; 0.533 0.586
Acute Myeloid Leukemia (AML-M2) Neoplasms ; 0.533 0.586
Liver carcinoma Neoplasms ; Digestive System Diseases ; 0.533 0.586
LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO N/A 0.533 0.586
MYELODYSPLASTIC SYNDROME Hemic and Lymphatic Diseases ; 0.533 0.586
NO RESULT FOUND
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