AQP12A

aquaporin 12A, the group of Aquaporins

Basic information

Region (hg38): 2:240691866-240698483

Previous symbols: [ "AQP12" ]

Links

ENSG00000184945 ∙ NCBI:375318 ∙ OMIM:609789 ∙ HGNC:19941 ∙ Uniprot:Q8IXF9 ∙ 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 AQP12A gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AQP12A 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					2	2
missense			22	1	1	24
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					1	1
Total	0	0	22	1	4

Variants in AQP12A

This is a list of pathogenic ClinVar variants found in the AQP12A region.

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

Position	Type	Phenotype	Significance	ClinVar
2-240691950-G-A		not specified	Uncertain significance (Mar 24, 2023)
2-240691972-C-T		not specified	Uncertain significance (Mar 21, 2023)
2-240691975-C-A		not specified	Uncertain significance (Jan 20, 2025)
2-240692059-C-G			Benign (Nov 21, 2018)
2-240692076-G-A		not specified	Uncertain significance (Mar 26, 2024)
2-240692081-C-T		not specified	Likely benign (Feb 28, 2025)
2-240692159-C-T		not specified	Likely benign (Jun 29, 2023)
2-240692164-G-A		not specified	Uncertain significance (Oct 26, 2021)
2-240692179-G-A		not specified	Uncertain significance (Jan 03, 2024)
2-240692179-G-C		not specified	Uncertain significance (Feb 23, 2023)
2-240692188-G-A		not specified	Uncertain significance (Sep 26, 2024)
2-240692197-A-G		not specified	Uncertain significance (Aug 23, 2021)
2-240692199-T-C			Benign (Nov 21, 2018)
2-240692214-G-T		not specified	Uncertain significance (Mar 15, 2024)
2-240692227-G-A		not specified	Uncertain significance (Jan 16, 2024)
2-240692246-C-T		not specified	Uncertain significance (Feb 03, 2022)
2-240692248-C-T			Benign (Jan 04, 2019)
2-240692261-C-T		not specified	Uncertain significance (Jun 11, 2024)
2-240692287-G-A		not specified	Uncertain significance (Mar 03, 2025)
2-240692300-T-C			Benign (Nov 21, 2018)
2-240692301-G-T		not specified	Uncertain significance (Aug 02, 2021)
2-240692309-G-C		not specified	Uncertain significance (Nov 08, 2024)
2-240692339-T-A		not specified	Uncertain significance (Mar 26, 2024)
2-240692384-C-T		not specified	Uncertain significance (Dec 14, 2023)
2-240692389-G-A		not specified	Uncertain significance (Mar 01, 2025)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
AQP12A	protein_coding	protein_coding	ENST00000337801	4	6639

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0179	0.739	121967	2	16	121985	0.0000738

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.902	139	112	1.24	0.00000745	1820
Missense in Polyphen		45	30.939	1.4545		598
Synonymous	-1.27	69	56.8	1.22	0.00000415	658
Loss of Function	0.773	3	4.83	0.621	2.07e-7	77

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000213	0.000189
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000576	0.0000567
Finnish	0.00	0.00
European (Non-Finnish)	0.0000720	0.0000710
Middle Eastern	0.0000576	0.0000567
South Asian	0.000270	0.000200
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Aquaporins facilitate the transport of water and small neutral solutes across cell membranes. {ECO:0000250}.
• Pathway: Transport of small molecules;Passive transport by Aquaporins;Aquaporin-mediated transport (Consensus)

Recessive Scores

• pRec: 0.0886

Haploinsufficiency Scores

• pHI: 0.115
• hipred: N
• hipred_score: 0.112

Essentials

• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0716

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Aqp12
• Phenotype: homeostasis/metabolism phenotype; endocrine/exocrine gland phenotype; immune system phenotype; digestive/alimentary phenotype

Gene ontology

• Biological process: water transport;transmembrane transport
• Cellular component: cytoplasm;integral component of membrane
• Molecular function: channel activity