ADGB

androglobin, the group of Calpains

Basic information

Region (hg38): 6:146598966-146815462

Previous symbols: [ "C6orf103" ]

Links

ENSG00000118492 ∙ NCBI:79747 ∙ OMIM:614630 ∙ HGNC:21212 ∙ Uniprot:Q8N7X0 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ADGB gene.

• Inborn genetic diseases (68 variants)
• not provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADGB gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			67	2		69
nonsense			1			1
start loss						0
frameshift			1			1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding						0
Total	0	0	69	2	0

Variants in ADGB

This is a list of pathogenic ClinVar variants found in the ADGB region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
6-146599068-G-A		not specified	Uncertain significance (Dec 12, 2023)
6-146599087-C-G		not specified	Uncertain significance (Dec 20, 2023)
6-146599090-C-T		not specified	Uncertain significance (Dec 05, 2022)
6-146635427-G-A		not specified	Uncertain significance (Mar 07, 2024)
6-146656764-T-C			Likely benign (Dec 01, 2022)
6-146656877-C-T		not specified	Uncertain significance (Aug 01, 2022)
6-146656915-G-T		not specified	Uncertain significance (Dec 16, 2021)
6-146666817-A-C		not specified	Uncertain significance (Feb 10, 2023)
6-146666886-G-C		not specified	Uncertain significance (Jan 03, 2024)
6-146672261-T-C		not specified	Uncertain significance (Oct 17, 2023)
6-146672314-G-A		not specified	Uncertain significance (Jun 26, 2023)
6-146672338-C-A		not specified	Uncertain significance (Feb 06, 2024)
6-146672341-G-A		not specified	Uncertain significance (Dec 06, 2022)
6-146672420-C-A			Likely benign (Dec 01, 2022)
6-146672437-G-A		not specified	Uncertain significance (Jun 30, 2022)
6-146672465-A-G		not specified	Uncertain significance (Apr 17, 2023)
6-146676355-A-T		not specified	Uncertain significance (Sep 01, 2021)
6-146676357-G-A		not specified	Uncertain significance (Dec 06, 2022)
6-146676374-C-G		not specified	Uncertain significance (Dec 19, 2023)
6-146676381-T-A		not specified	Uncertain significance (Dec 08, 2023)
6-146685746-T-C		not specified	Uncertain significance (Oct 20, 2023)
6-146685766-G-A		not specified	Uncertain significance (Jan 08, 2024)
6-146691251-C-T		not specified	Uncertain significance (Apr 04, 2023)
6-146691278-G-T		not specified	Uncertain significance (Apr 25, 2023)
6-146692894-C-T		not specified	Uncertain significance (Aug 12, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ADGB	protein_coding	protein_coding	ENST00000397944	36	216498

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.72e-22	0.997	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.593	679	724	0.938	0.0000369	10907
Missense in Polyphen		174	199.89	0.87048		3240
Synonymous	1.54	224	255	0.878	0.0000134	3059
Loss of Function	3.16	47	76.9	0.611	0.00000418	1146

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• pHI: 0.174

Essentials

• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	High
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Adgb

Gene ontology

• Biological process: proteolysis
• Molecular function: calcium-dependent cysteine-type endopeptidase activity;oxygen binding;heme binding