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 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, Dec 2024]
Expression: Biased expression in testis (RPKM 2.9) and lung (RPKM 0.4) See more
Orthologs: mouse all
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Genomic context

Location:: 6q24.3

Exon count:: 36

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (146598972..146815462)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (147792194..148008697)
RS_2024_09	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

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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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

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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

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in sperm annulus	IBA Inferred from Biological aspect of Ancestor more info
is_active_in sperm midpiece	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: androglobin

Names: calpain-7-like protein

NCBI Reference Sequences (RefSeq)

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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.