ConVarT

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

Missense Variant

Synonymous Variant

∙ 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

ClinVar Data

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

gnomAD

Missense Variant

Synonymous Variant

Show entries

Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber
6-90718323-C-T	ENST00000453877	p.Glu81Lys	Missense Variant	0	0	0	rs779642556
6-90718323-C-T	ENST00000406998	p.Glu81Lys	Missense Variant	0	0	0	rs779642556
6-90718324-C-T	ENST00000453877	p.Glu80Glu	Synonymous Variant	0	0	0	rs746464663
6-90718324-C-T	ENST00000406998	p.Glu80Glu	Synonymous Variant	0	0	0	rs746464663
6-90718327-A-G	ENST00000453877	p.Pro79Pro	Synonymous Variant	0	0	0	rs769293864
6-90718327-A-G	ENST00000406998	p.Pro79Pro	Synonymous Variant	0	0	0	rs769293864
6-90718333-G-A	ENST00000453877	p.Ser77Ser	Synonymous Variant	0	0	0	rs1389140976
6-90718333-G-A	ENST00000406998	p.Ser77Ser	Synonymous Variant	0	0	0	rs1389140976
6-90718334-C-G	ENST00000453877	p.Ser77Thr	Missense Variant	0	0	0	rs1302804378
6-90718334-C-G	ENST00000406998	p.Ser77Thr	Missense Variant	0	0	0	rs1302804378
6-90718356-T-C	ENST00000453877	p.Thr70Ala	Missense Variant	0	0	0	rs1371210319
6-90718356-T-C	ENST00000406998	p.Thr70Ala	Missense Variant	0	0	0	rs1371210319
6-90718357-C-G	ENST00000453877	p.Gln69His	Missense Variant	0	0	0	rs777275715
6-90718357-C-G	ENST00000406998	p.Gln69His	Missense Variant	0	0	0	rs777275715
6-90718364-A-G	ENST00000453877	p.Val67Ala	Missense Variant	0	0	0	rs1300893800
6-90718364-A-G	ENST00000406998	p.Val67Ala	Missense Variant	0	0	0	rs1300893800
6-90718365-C-T	ENST00000453877	p.Val67Ile	Missense Variant	0	0	0	rs748584222
6-90718365-C-T	ENST00000406998	p.Val67Ile	Missense Variant	0	0	0	rs748584222
6-90718369-C-T	ENST00000453877	p.Ala65Ala	Synonymous Variant	3	31406	0.000096	rs138881451
6-90718369-C-T	ENST00000406998	p.Ala65Ala	Synonymous Variant	3	31406	0.000096	rs138881451

Showing 1 to 20 of 82 entries

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Post-translational Modifications (PTMs)

Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID

Catalogue of Somatic Mutations in Cancer (COSMIC)

Gene Name	Transcript ID	Sample name	Primary Site	Primary Histology	Mutation ID	Mutation CDS	Mutation Aa	Mutation Desc.	FATHMM Prediction	FATHMM Score	Mutation Somatic Status	PUBMED PMID	Tumor Origin	Position

dbSNP

Gene ID	Transcript ID	Consequence	Position	HGVSp	Impact

Protein Domains (PFAM)

Pfam Domain	Domain Name	Description	Positions	Clan	Clan Name	Organism
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

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
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

Classification of Clinicial Significance of ClinVar Data