AQP7B

Summary

AQP7B (aquaporin 7B, HGNC:53895) is a protein-coding gene on chromosome 2q11.1, encoding Putative aquaporin-7B (A0A075B734). Aquaglyceroporins form homotetrameric transmembrane channels, with each monomer independently mediating glycerol and water transport across the plasma membrane along their osmotic gradient.

Predicted to enable glycerol channel activity and water channel activity. Predicted to be involved in glycerol transmembrane transport and water transport. Predicted to be located in membrane. Predicted to be active in basolateral plasma membrane.

Source: NCBI Gene 100509620 — RefSeq curated summary.

At a glance

• MANE Select transcript: NM_001382497

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:53895
Approved symbol	AQP7B
Name	aquaporin 7B
Location	2q11.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000259916
Ensembl biotype	protein_coding
Entrez	100509620

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 8 protein_coding, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000561882, ENST00000696092, ENST00000696093, ENST00000696094, ENST00000696095, ENST00000696096, ENST00000696097, ENST00000696098, ENST00000696099, ENST00000696100

RefSeq mRNA: 1 — MANE Select: NM_001382497 NM_001382497

CCDS: CCDS92802

Canonical transcript exons

ENST00000561882 — 8 exons

Exon	Start	End
ENSE00002583660	94588497	94588547
ENSE00002584491	94594744	94594873
ENSE00002616790	94602492	94602615
ENSE00002617025	94603383	94603501
ENSE00003965977	94604288	94604628
ENSE00003965984	94603037	94603174
ENSE00003965985	94587311	94587409
ENSE00003965986	94603712	94603929

Expression profiles

Bgee: expression breadth broad, 70 present calls, max score 76.87.

Top tissues by expression

112 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
subcutaneous adipose tissue	UBERON:0002190	76.87	gold quality
adipose tissue	UBERON:0001013	76.11	gold quality
omental fat pad	UBERON:0010414	75.12	gold quality
thoracic mammary gland	UBERON:0005200	63.44	gold quality
apex of heart	UBERON:0002098	60.14	gold quality
heart left ventricle	UBERON:0002084	57.54	gold quality
tibial nerve	UBERON:0001323	55.86	gold quality
mucosa of stomach	UBERON:0001199	54.54	gold quality
heart	UBERON:0000948	53.00	gold quality
adult mammalian kidney	UBERON:0000082	51.95	gold quality
right atrium auricular region	UBERON:0006631	51.27	gold quality
hindlimb stylopod muscle	UBERON:0004252	49.11	gold quality
left coronary artery	UBERON:0001626	48.80	gold quality
kidney	UBERON:0002113	45.07	gold quality
minor salivary gland	UBERON:0001830	44.94	gold quality
gastrocnemius	UBERON:0001388	44.84	gold quality
saliva-secreting gland	UBERON:0001044	44.31	gold quality
muscle of leg	UBERON:0001383	44.31	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	43.97	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	43.77	silver quality
lower esophagus muscularis layer	UBERON:0035833	42.84	gold quality
lower esophagus	UBERON:0013473	42.76	gold quality
muscle layer of sigmoid colon	UBERON:0035805	42.33	gold quality
liver	UBERON:0002107	42.10	gold quality
ectocervix	UBERON:0012249	41.79	gold quality
stromal cell of endometrium	CL:0002255	41.51	silver quality
colonic epithelium	UBERON:0000397	41.48	gold quality
uterine cervix	UBERON:0000002	41.29	gold quality
endocervix	UBERON:0000458	41.25	gold quality
right lobe of liver	UBERON:0001114	40.49	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-GEOD-135922	yes	21.78
E-ANND-3	no	1.12

Regulation

Is transcription factor: no

Cross-species orthologs

8 orthologs

Organism	Symbol	Gene ID
danio_rerio	aqp7	ENSDARG00000026787
mus_musculus	Aqp7	ENSMUSG00000028427
rattus_norvegicus	Aqp7	ENSRNOG00000009686
drosophila_melanogaster	Eglp1	FBGN0034882
drosophila_melanogaster	Eglp2	FBGN0034883
drosophila_melanogaster	Eglp3	FBGN0034884
drosophila_melanogaster	Eglp4	FBGN0034885
caenorhabditis_elegans		WBGENE00000170

Paralogs (11): AQP6 (ENSG00000086159), AQP8 (ENSG00000103375), AQP9 (ENSG00000103569), MIP (ENSG00000135517), AQP10 (ENSG00000143595), AQP5 (ENSG00000161798), AQP7 (ENSG00000165269), AQP3 (ENSG00000165272), AQP2 (ENSG00000167580), AQP4 (ENSG00000171885), AQP1 (ENSG00000240583)

Protein

Protein identifiers

Putative aquaporin-7B — A0A075B734 (reviewed: A0A075B734)

All UniProt accessions (6): A0A075B734, A0A8Q3SI91, A0A8Q3SI93, A0A8Q3SIF9, A0A8Q3SJ69, A0A8Q3WL09

UniProt curated annotations — full annotation on UniProt →

Function. Aquaglyceroporins form homotetrameric transmembrane channels, with each monomer independently mediating glycerol and water transport across the plasma membrane along their osmotic gradient.

Subunit / interactions. Homotetramer; each monomer provides an independent glycerol/water pore.

Subcellular location. Membrane.

Domain organisation. Aquaporins contain two tandem repeats each containing three membrane-spanning domains and a pore-forming loop with the signature motif Asn-Pro/Ala-Ala/Ser (NPA).

Similarity. Belongs to the MIP/aquaporin (TC 1.A.8) family.

RefSeq proteins (1): NP_001369426* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000425	MIP	Family
IPR023271	Aquaporin-like	Homologous_superfamily
IPR050363	MIP/Aquaporin	Family

Pfam: PF00230

Catalyzed reactions (Rhea), 2 shown:

• H2O(in) = H2O(out) (RHEA:29667)
• glycerol(in) = glycerol(out) (RHEA:29675)

UniProt features (22 total): topological domain 9, transmembrane region 6, site 3, intramembrane region 2, short sequence motif 2

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A0A075B734-F1	82.60	0.69

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (3): 78 (selectivity filter); 227 (selectivity filter); 233 (selectivity filter)

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 26 (showing top): GOBP_CARBOHYDRATE_TRANSPORT, GOBP_ORGANIC_HYDROXY_COMPOUND_TRANSPORT, GOBP_WATER_TRANSPORT, GOBP_POLYOL_TRANSMEMBRANE_TRANSPORT, GOBP_ONE_CARBON_COMPOUND_TRANSPORT, GOBP_TRANSMEMBRANE_TRANSPORT, GOBP_FLUID_TRANSPORT, GOCC_PLASMA_MEMBRANE_REGION, GOCC_BASAL_PART_OF_CELL, GOMF_PASSIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY, GOMF_AMIDE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY, GOMF_WATER_TRANSMEMBRANE_TRANSPORTER_ACTIVITY, GOMF_POLYOL_TRANSMEMBRANE_TRANSPORTER_ACTIVITY, chr2q11, GOMF_TRANSPORTER_ACTIVITY

GO Biological Process (4): water transport (GO:0006833), glycerol transmembrane transport (GO:0015793), transmembrane transport (GO:0055085), urea transmembrane transport (GO:0071918)

GO Molecular Function (4): urea transmembrane transporter activity (GO:0015204), water channel activity (GO:0015250), glycerol channel activity (GO:0015254), channel activity (GO:0015267)

GO Cellular Component (3): plasma membrane (GO:0005886), basolateral plasma membrane (GO:0016323), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
channel activity	2
fluid transport	1
polyol transmembrane transport	1
carbohydrate transmembrane transport	1
transport	1
cellular process	1
urea transport	1
transmembrane transport	1
transmembrane transporter activity	1
urea transmembrane transport	1
water transmembrane transporter activity	1
glycerol transmembrane transporter activity	1
passive transmembrane transporter activity	1
membrane	1
cell periphery	1
basal plasma membrane	1
plasma membrane region	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1945 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
AQP7B	FTHL17	Q9BXU8	523
AQP7B	CSAG1	Q6PB30	518
AQP7B	ACTL8	Q9H568	517
AQP7B	COX7B2	Q8TF08	507
AQP7B	GLYAT	Q6IB77	419
AQP7B	MAGEA12	P43365	391
AQP7B	DIP2C	Q9Y2E4	353
AQP7B	ANAPC1	Q9H1A4	353
AQP7B	NFX1	Q12986	353
AQP7B	ALDH18A1	P54886	351
AQP7B	PFKP	Q01813	351
AQP7B	NEK2	P51955	350
AQP7B	SRGAP2	O75044	349
AQP7B	AQP11	Q8NBQ7	337
AQP7B	CST4	P01036	335

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A075B734, A1L272, A2IBY8, A8W649, A9Y006, D4A7H1, E7EXX2, F7B113, O14520, O35454, O54794, O62735, O94956, P34080, P35525, P41181, P47862, P47863, P47864, P51789, P51797, P56402, P56403, P79099, Q06495, Q06496, Q08DE6, Q4R691, Q5PQL3, Q62052, Q866S3, Q8BLV3, Q8BXB6, Q8BZ00, Q8IVB4, Q8K078, Q8MIQ9, Q8R2N1, Q8TCT8, Q921R8

Diamond homologs: A0A075B734, A0A384JPP3, A0A384JSZ0, A9Y006, B0D4E4, B0D4J9, B0D4K0, B0DLE4, B1VB61, F9USY3, F9UTW9, F9UUB3, G5CTF9, G5CTG0, G5CTG1, G5CTG4, G5CTG5, G5CTG6, G5CTG7, I1CR68, I1CS06, I1RHJ1, I1RIY3, I1Z8E7, I1Z8E8, I1Z8E9, I1Z8F0, I3W9F7, O14520, O43315, O54794, O62735, O77697, O77714, O77722, O77740, P0A3Q7, P0A3Q8, P0AER0, P0AER1

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

0 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	0
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

2301 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:94603448:T:C	F163L	0.804
2:94603450:T:A	F163L	0.804
2:94603450:T:G	F163L	0.804
2:94602567:T:C	F78L	0.799
2:94602569:T:A	F78L	0.799
2:94602569:T:G	F78L	0.799
2:94603490:T:C	F177L	0.756
2:94603492:C:A	F177L	0.756
2:94603492:C:G	F177L	0.756
2:94603397:T:C	F146L	0.750
2:94603399:T:A	F146L	0.750
2:94603399:T:G	F146L	0.750
2:94594838:T:C	F41L	0.719
2:94594840:C:A	F41L	0.719
2:94594840:C:G	F41L	0.719
2:94603925:T:C	F252L	0.715
2:94603927:C:A	F252L	0.715
2:94603927:C:G	F252L	0.715
2:94603892:T:C	F241L	0.693
2:94603894:C:A	F241L	0.693
2:94603894:C:G	F241L	0.693
2:94603138:T:C	F128L	0.685
2:94603140:C:A	F128L	0.685
2:94603140:C:G	F128L	0.685
2:94602495:T:C	F54L	0.655
2:94602497:C:A	F54L	0.655
2:94602497:C:G	F54L	0.655
2:94594856:A:C	S47R	0.628
2:94594858:C:A	S47R	0.628
2:94594858:C:G	S47R	0.628

dbSNP variants (sampled 300 via entrez): RS1156244805 (2:94597858 G>A), RS1156276285 (2:94588331 T>C), RS1156405199 (2:94598489 G>A,C,T), RS1156657177 (2:94596490 G>A,T), RS1156769250 (2:94586994 G>A,T), RS1156885092 (2:94587700 A>G), RS1157000175 (2:94604138 G>A,T), RS1157017804 (2:94595020 G>A,C), RS1157067542 (2:94604772 G>T), RS1157110676 (2:94595789 G>T), RS1157124616 (2:94585561 C>T), RS1157237956 (2:94586348 T>C), RS1157422898 (2:94592856 CT>C), RS1157525418 (2:94602884 G>A), RS1157558647 (2:94601108 C>A,G,T)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.