ADGB androglobin [Homo sapiens (human)] - Gene

Summary

Official Symbol: ADGBprovided by HGNC
Official Full Name: androglobinprovided by HGNC
Primary source: HGNC:HGNC:21212
See related: Ensembl:ENSG00000118492 MIM:614630; AllianceGenome:HGNC:21212
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CAPN16; C6orf103
Summary: Predicted to enable calcium-dependent cysteine-type endopeptidase activity; heme binding activity; and oxygen binding activity. Predicted to be involved in proteolysis. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in testis (RPKM 2.9) and lung (RPKM 0.4) See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 6q24.3

Exon count:: 36

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (146598972..146815462)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (147792194..148008697)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (146920108..147136598)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ADGB variants cause asthenozoospermia and male infertility.
Title: ADGB variants cause asthenozoospermia and male infertility.
Androglobin gene expression patterns and FOXJ1-dependent regulation indicate its functional association with ciliogenesis.
Title: Androglobin gene expression patterns and FOXJ1-dependent regulation indicate its functional association with ciliogenesis.
Suggest ADGB is involved in the progression of glioma in vitro.
Title: Androglobin knockdown inhibits growth of glioma cell lines.
Molecular evolutionary analyses indicate that this chimeric globin family is phylogenetically ancient and originated in the common ancestor to animals and choanoflagellates. In humans and mice, the gene is predominantly expressed in testis tissue.
Title: Androglobin: a chimeric globin in metazoans that is preferentially expressed in Mammalian testes.

Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Identification of two new loci at IL23R and RAB32 that influence susceptibility to leprosy. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

WI-16660 (e-PCR)
- UniSTS:45851

WI-11840 (e-PCR)
- UniSTS:575

RH46623 (e-PCR)
- UniSTS:38469

SHGC-111339 (e-PCR)
- UniSTS:168312

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium-dependent cysteine-type endopeptidase activity	IEA Inferred from Electronic Annotation more info
enables heme binding	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables oxygen binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in proteolysis	IEA Inferred from Electronic Annotation more info
involved_in spermatid development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in sperm annulus	IEA Inferred from Electronic Annotation more info
located_in sperm midpiece	IEA Inferred from Electronic Annotation more info

General protein information

Go to the top of the page Help

Preferred Names: androglobin

Names: calpain-7-like protein

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_024694.4 → NP_078970.3 androglobin

See identical proteins and their annotated locations for NP_078970.3

Status: VALIDATED

Source sequence(s)

AK026774, AK097570, AL359547, AL832192, BG199812, DN831198

UniProtKB/Swiss-Prot

Q5T402, Q5T904, Q5T905, Q8N7X0

UniProtKB/TrEMBL

A0A7P0T963

Related

ENSP00000381036.3, ENST00000397944.8

Conserved Domains (2) summary

cd01040
Location:780 → 853

Mb_like; myoglobin_like; M family globin domain

cl00051
Location:192 → 299

CysPc; Calpains, domains IIa, IIb; calcium-dependent cytoplasmic cysteine proteinases, papain-like. Functions in cytoskeletal remodeling processes, cell differentiation, apoptosis and signal transduction.