AQP12B

aquaporin 12B, the group of Aquaporins

Basic information

Region (hg38): 2:240676418-240682906

Previous symbols: [ "INSSA3" ]

Links

ENSG00000185176 ∙ NCBI:653437 ∙ ∙ HGNC:6096 ∙ Uniprot:A6NM10 ∙ 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 AQP12B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AQP12B 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			37	4		41
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	37	4	0

Variants in AQP12B

This is a list of pathogenic ClinVar variants found in the AQP12B region.

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

Position	Type	Phenotype	Significance	ClinVar
2-240676576-C-T		not specified	Uncertain significance (Jun 26, 2023)
2-240676711-C-T		not specified	Likely benign (Apr 25, 2022)
2-240680382-C-T		not specified	Uncertain significance (May 24, 2024)
2-240680386-C-A		not specified	Uncertain significance (Jun 24, 2022)
2-240680403-C-T		not specified	Uncertain significance (Sep 19, 2022)
2-240680405-G-A		not specified	Uncertain significance (Jan 29, 2024)
2-240682242-G-T		not specified	Uncertain significance (Jun 02, 2023)
2-240682276-T-G		not specified	Likely benign (Feb 16, 2023)
2-240682282-C-T		not specified	Uncertain significance (Nov 09, 2021)
2-240682288-G-T		not specified	Uncertain significance (Jul 05, 2023)
2-240682327-A-G		not specified	Uncertain significance (Mar 31, 2023)
2-240682336-C-T		not specified	Uncertain significance (Mar 20, 2023)
2-240682368-G-A		not specified	Uncertain significance (May 27, 2022)
2-240682371-C-G		not specified	Uncertain significance (Sep 20, 2023)
2-240682371-C-T		not specified	Uncertain significance (Jan 08, 2024)
2-240682407-T-G		not specified	Uncertain significance (Apr 07, 2022)
2-240682456-G-C		not specified	Uncertain significance (Apr 03, 2023)
2-240682465-C-T		not specified	Uncertain significance (Dec 14, 2021)
2-240682474-T-C		not specified	Likely benign (Aug 12, 2021)
2-240682506-G-A		not specified	Uncertain significance (Apr 17, 2024)
2-240682506-G-C		not specified	Uncertain significance (Jul 12, 2022)
2-240682512-G-A		not specified	Uncertain significance (Jun 11, 2024)
2-240682513-G-T		not specified	Uncertain significance (Mar 16, 2022)
2-240682516-G-C		not specified	Uncertain significance (Apr 22, 2022)
2-240682525-C-T		not specified	Uncertain significance (Aug 08, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
AQP12B	protein_coding	protein_coding	ENST00000407834	3	6489

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00201	0.518	125590	0	24	125614	0.0000955

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.47	172	126	1.37	0.00000822	1873
Missense in Polyphen		51	37.003	1.3783		627
Synonymous	-3.02	101	69.1	1.46	0.00000532	701
Loss of Function	0.153	4	4.34	0.921	1.87e-7	65

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000874	0.0000874
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000546	0.0000544
Finnish	0.000143	0.000139
European (Non-Finnish)	0.000126	0.000123
Middle Eastern	0.0000546	0.0000544
South Asian	0.0000327	0.0000327
Other	0.000329	0.000327

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Aquaporins facilitate the transport of water and small neutral solutes across cell membranes. {ECO:0000250}.

Haploinsufficiency Scores

• pHI: 0.160
• hipred: N
• hipred_score: 0.112

Essentials

• essential_gene_CRISPR: N
• 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	High
Cancer	High	Medium	High

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