BACH2 (GeneID: 60468) | Homo sapiens
Description: BTB domain and CNC homolog 2 [Source:HGNC Symbol;Acc:HGNC:14078]
Synonyms: BTBD25
Other ID(s): HGNC:14078, ENSG00000112182
Protein Accession Numbers: ENST00000453877, ENST00000257749, NP_001164265, ENST00000406998, ENST00000537989, ENST00000343122, NP_068585
Statistics: gnomAD(82)
gnomAD Variants By Annotation

∙ 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.
ENST00000257749 ENST00000343122 ENST00000406998 ENST00000453877 ENST00000537989 NP_001164265 NP_068585


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
PF00651 BTB BTB/POZ domain 27-133 CL0033 POZ Mus musculus
PF03131 bZIP_Maf bZIP Maf transcription factor 616-707 CL0018 bZIP Mus musculus

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Celiac Disease Digestive System Diseases ; Nutritional and Metabolic Diseases ; 0.596 0.586
Crohn Disease Digestive System Diseases ; 0.596 0.586
Diabetes Mellitus, Insulin-Dependent Nutritional and Metabolic Diseases ; Endocrine System Diseases ; Immune System Diseases ; 0.596 0.586
Leukemia, Myelocytic, Acute Neoplasms ; 0.596 0.586
Acute Myeloid Leukemia, M1 Neoplasms ; 0.596 0.586
Vitiligo Skin and Connective Tissue Diseases ; 0.596 0.586
Crohn's disease of large bowel Digestive System Diseases ; 0.596 0.586
Diabetes, Autoimmune Nutritional and Metabolic Diseases ; Endocrine System Diseases ; Immune System Diseases ; 0.596 0.586
Crohn's disease of the ileum Digestive System Diseases ; 0.596 0.586
Brittle diabetes Nutritional and Metabolic Diseases ; Endocrine System Diseases ; Immune System Diseases ; 0.596 0.586
Regional enteritis Digestive System Diseases ; 0.596 0.586
IIeocolitis Digestive System Diseases ; 0.596 0.586
Acute Myeloid Leukemia (AML-M2) Neoplasms ; 0.596 0.586
Diabetes Mellitus, Ketosis-Prone Nutritional and Metabolic Diseases ; Endocrine System Diseases ; Immune System Diseases ; 0.596 0.586
NO RESULT FOUND
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