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.

• not_specified (45 variants)
• not_provided (2 variants)

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. These statistics are base on transcript: NM_000198998.3. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					1	1
missense			43	2	1	46
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	43	2	2

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