ADGB

protein-coding

androglobin, the group of Calpains

Gene summary

Predicted to enable several functions, including calcium-dependent cysteine-type endopeptidase activity; heme binding activity; and oxygen binding activity. Predicted to be involved in spermatid development. Predicted to be located in sperm flagellum. Predicted to be active in sperm annulus and sperm midpiece. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

C6orf103

MANE transcript

NM_024694.4

Inheritance

—

ClinVar variants

U:252B:9

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.61

Max pathogenic AF

—

Genomic locus

chr6:146,598,967-146,815,462

External References & Databases

Ensembl (ENSG00000118492)

Transcript & Mutation Effects

hg38 • Region Span ~216.5 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to ADGB variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 256

not providedTotal: 5

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_024694.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				2 clinvar		2
missense			249 clinvar	7 clinvar		256
nonsense			1 clinvar			1
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	252	9	0	261

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 12 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_024694.4	RefSeq	NP_078970.3	36	MANE Select
ENST00000397944.8	Ensembl	ENSP00000381036.3	36	MANE Select
ENST00000326916.13	Ensembl	ENSP00000323839.9	8	Standard
ENST00000367490.5	Ensembl	ENSP00000356460.1	12	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

proteolysis

Molecular Function

calcium-dependent cysteine-type endopeptidase activity
oxygen binding
heme binding

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000397944
Coding exons: 36
Length: 216498
Individuals with no LoFs: 0
Homozygous LoFs: 0
Heterozygous LoFs: 0
Defined: 0
p: 0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.593	679	724	0.938	0.0000369	10907
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0	0.0	absent
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Essentials

Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.114

Gene Damage Prediction

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