Human Gene AQP6 (ENST00000315520.10_4) from GENCODE V47lift37

JavaScript is disabled in your web browser

You must have JavaScript enabled in your web browser to use the Genome Browser

Description: aquaporin 6 (from RefSeq NM_001652.4)
Gencode Transcript: ENST00000315520.10_4
Gencode Gene: ENSG00000086159.14_8
Transcript (Including UTRs)
Position: hg19 chr12:50,366,730-50,370,922 Size: 4,193 Total Exon Count: 4 Strand: +
Coding Region
Position: hg19 chr12:50,366,957-50,369,454 Size: 2,498 Coding Exon Count: 4

Page Index	Sequence and Links	UniProtKB Comments	Primers	CTD	Gene Alleles
RNA-Seq Expression	Microarray Expression	RNA Structure	Protein Structure	Other Species	GO Annotations
mRNA Descriptions	Pathways	Other Names	Model Information	Methods

Data last updated at UCSC: 2024-08-22 23:36:26

Sequence and Links to Tools and Databases

Genomic Sequence (chr12:50,366,730-50,370,922)			mRNA (may differ from genome)		Protein (282 aa)
Gene Sorter	Genome Browser	Other Species FASTA	Gene interactions	Table Schema	AlphaFold
BioGPS	Ensembl	Entrez Gene	ExonPrimer	GeneCards	HGNC
MGI	OMIM	PubMed	Reactome	UniProtKB	Wikipedia
BioGrid CRISPR DB

Comments and Description Text from UniProtKB


	ID: AQP6_HUMAN DESCRIPTION: RecName: Full=Aquaporin-6; Short=AQP-6; AltName: Full=Aquaporin-2-like; AltName: Full=Kidney-specific aquaporin; Short=hKID; FUNCTION: Forms a water-specific channel that participates in distinct physiological functions such as glomerular filtration, tubular endocytosis and acid-base metabolism (By similarity). SUBCELLULAR LOCATION: Cytoplasmic vesicle membrane; Multi-pass membrane protein (By similarity). DOMAIN: Aquaporins contain two tandem repeats each containing three membrane-spanning domains and a pore-forming loop with the signature motif Asn-Pro-Ala (NPA). SIMILARITY: Belongs to the MIP/aquaporin (TC 1.A.8) family.

Primer design for this transcript

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3

Comparative Toxicogenomics Database (CTD)


	The following chemicals interact with this gene C049325 1,2-dithiol-3-thione D000535 Aluminum D000643 Ammonium Chloride D005419 Flavonoids D008094 Lithium

Common Gene Haplotype Alleles


	Press "+" in the title bar above to open this section.

RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)


	Highest median expression: 11.66 RPKM in Kidney - Cortex Total median expression: 19.81 RPKM View in GTEx track of Genome Browser View at GTEx portal View GTEx Body Map

Microarray Expression Data


	Press "+" in the title bar above to open this section.

mRNA Secondary Structure of 3' and 5' UTRs

Region	Fold Energy	Bases	Energy/Base	Display As
5' UTR	-70.10	227	-0.309	Picture	PostScript	Text
3' UTR	-573.20	1468	-0.390	Picture	PostScript	Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

Protein Domain and Structure Information

InterPro Domains: Graphical view of domain structure
IPR023271 - Aquaporin-like
IPR023254 - Aquaporin_6
IPR000425 - MIP
IPR022357 - MIP_CS

Pfam Domains:
PF00230 - Major intrinsic protein

SCOP Domains:
81338 - Aquaporin-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help

1S6E - Model

ModBase Predicted Comparative 3D Structure on Q13520


Front	Top	Side

The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

Orthologous Genes in Other Species

Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.

Mouse	Rat	Zebrafish	D. melanogaster	C. elegans	S. cerevisiae
No ortholog	No ortholog	No ortholog	No ortholog	No ortholog	No ortholog
Gene Details	Gene Details
Gene Sorter	Gene Sorter
	RGD

Gene Ontology (GO) Annotations with Structured Vocabulary


	Molecular Function: GO:0015112 nitrate transmembrane transporter activity GO:0015250 water channel activity GO:0015267 channel activity Biological Process: GO:0006833 water transport GO:0007588 excretion GO:0015706 nitrate transport GO:0034220 ion transmembrane transport GO:0042476 odontogenesis GO:0055085 transmembrane transport Cellular Component: GO:0005887 integral component of plasma membrane GO:0016020 membrane GO:0016021 integral component of membrane GO:0016324 apical plasma membrane GO:0030659 cytoplasmic vesicle membrane GO:0031410 cytoplasmic vesicle

Descriptions from all associated GenBank mRNAs


	AL137716 - Homo sapiens mRNA; cDNA DKFZp434D2030 (from clone DKFZp434D2030). BC065275 - Homo sapiens aquaporin 6, kidney specific, mRNA (cDNA clone IMAGE:6164409), partial cds. LF212644 - JP 2014500723-A/20147: Polycomb-Associated Non-Coding RNAs. U48408 - Human kidney water channel (hKID) mRNA, complete cds. JD122437 - Sequence 103461 from Patent EP1572962. JD122562 - Sequence 103586 from Patent EP1572962. JD369954 - Sequence 350978 from Patent EP1572962. JD339888 - Sequence 320912 from Patent EP1572962. JD469881 - Sequence 450905 from Patent EP1572962. JD062240 - Sequence 43264 from Patent EP1572962. JD065436 - Sequence 46460 from Patent EP1572962. JD073549 - Sequence 54573 from Patent EP1572962. JD052851 - Sequence 33875 from Patent EP1572962. BC156043 - Synthetic construct Homo sapiens clone IMAGE:100062388, MGC:190497 aquaporin 6, kidney specific (AQP6) mRNA, encodes complete protein. BC156929 - Synthetic construct Homo sapiens clone IMAGE:100063602, MGC:190801 aquaporin 6, kidney specific (AQP6) mRNA, encodes complete protein. JD209507 - Sequence 190531 from Patent EP1572962. JD420339 - Sequence 401363 from Patent EP1572962. JD482217 - Sequence 463241 from Patent EP1572962. JD381795 - Sequence 362819 from Patent EP1572962. JD383561 - Sequence 364585 from Patent EP1572962. JD205790 - Sequence 186814 from Patent EP1572962. JD411096 - Sequence 392120 from Patent EP1572962. JD428080 - Sequence 409104 from Patent EP1572962. JD099255 - Sequence 80279 from Patent EP1572962. JD214953 - Sequence 195977 from Patent EP1572962. JD194243 - Sequence 175267 from Patent EP1572962. JD159375 - Sequence 140399 from Patent EP1572962. JD186171 - Sequence 167195 from Patent EP1572962. JD372741 - Sequence 353765 from Patent EP1572962. JD374283 - Sequence 355307 from Patent EP1572962. JD276918 - Sequence 257942 from Patent EP1572962. JD214901 - Sequence 195925 from Patent EP1572962. JD068111 - Sequence 49135 from Patent EP1572962. JD207994 - Sequence 189018 from Patent EP1572962. JD494604 - Sequence 475628 from Patent EP1572962. JD294621 - Sequence 275645 from Patent EP1572962. JD052876 - Sequence 33900 from Patent EP1572962. JD216005 - Sequence 197029 from Patent EP1572962. JD254887 - Sequence 235911 from Patent EP1572962. JD441934 - Sequence 422958 from Patent EP1572962. JD236270 - Sequence 217294 from Patent EP1572962. JD265837 - Sequence 246861 from Patent EP1572962. JD352994 - Sequence 334018 from Patent EP1572962. JD352995 - Sequence 334019 from Patent EP1572962. JD526308 - Sequence 507332 from Patent EP1572962. JD526309 - Sequence 507333 from Patent EP1572962. JD152253 - Sequence 133277 from Patent EP1572962. JD152254 - Sequence 133278 from Patent EP1572962. JD256790 - Sequence 237814 from Patent EP1572962. JD407580 - Sequence 388604 from Patent EP1572962. JD213091 - Sequence 194115 from Patent EP1572962. JD165235 - Sequence 146259 from Patent EP1572962. JD560958 - Sequence 541982 from Patent EP1572962. JD542923 - Sequence 523947 from Patent EP1572962. JD213093 - Sequence 194117 from Patent EP1572962. JD337597 - Sequence 318621 from Patent EP1572962. JD463117 - Sequence 444141 from Patent EP1572962. JD514449 - Sequence 495473 from Patent EP1572962. JD371287 - Sequence 352311 from Patent EP1572962. JD337598 - Sequence 318622 from Patent EP1572962. JD463119 - Sequence 444143 from Patent EP1572962. JD367506 - Sequence 348530 from Patent EP1572962. JD533858 - Sequence 514882 from Patent EP1572962. JD322172 - Sequence 303196 from Patent EP1572962. JD220922 - Sequence 201946 from Patent EP1572962. JD489171 - Sequence 470195 from Patent EP1572962. JD489172 - Sequence 470196 from Patent EP1572962. JD499748 - Sequence 480772 from Patent EP1572962. JD499749 - Sequence 480773 from Patent EP1572962. JD064617 - Sequence 45641 from Patent EP1572962. JD450020 - Sequence 431044 from Patent EP1572962. JD373800 - Sequence 354824 from Patent EP1572962. JD078101 - Sequence 59125 from Patent EP1572962. JD220660 - Sequence 201684 from Patent EP1572962. JD420451 - Sequence 401475 from Patent EP1572962. JD264777 - Sequence 245801 from Patent EP1572962. JD107590 - Sequence 88614 from Patent EP1572962. JD066304 - Sequence 47328 from Patent EP1572962. JD446768 - Sequence 427792 from Patent EP1572962. JD285375 - Sequence 266399 from Patent EP1572962. JD225485 - Sequence 206509 from Patent EP1572962. JD302977 - Sequence 284001 from Patent EP1572962. JD086432 - Sequence 67456 from Patent EP1572962. MA448221 - JP 2018138019-A/20147: Polycomb-Associated Non-Coding RNAs.

Biochemical and Signaling Pathways


	Reactome (by CSHL, EBI, and GO) Protein Q13520 (Reactome details) participates in the following event(s): R-HSA-432034 Aquaporin-6 passively transports anions into vesicles R-HSA-432036 Aquaporin-6 passively transports anions out of vesicles R-HSA-432047 Passive transport by Aquaporins R-HSA-445717 Aquaporin-mediated transport R-HSA-382551 Transport of small molecules

Other Names for This Gene


	Alternate Gene Symbols: AQP2L, AQP6_HUMAN, ENST00000315520.1, ENST00000315520.2, ENST00000315520.3, ENST00000315520.4, ENST00000315520.5, ENST00000315520.6, ENST00000315520.7, ENST00000315520.8, ENST00000315520.9, NM_001652, Q13520, uc317pvd.1, uc317pvd.2 UCSC ID: ENST00000315520.10_4 RefSeq Accession: NM_001652.4 Protein: Q13520 (aka AQP6_HUMAN)

Gene Model Information


	Click here for a detailed description of the fields of the table above.

Methods, Credits, and Use Restrictions


	Click here for details on how this gene model was made and data restrictions if any.