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AQP7B aquaporin 7B [ Homo sapiens (human) ]

Gene ID: 100509620, updated on 3-Apr-2024

Summary

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Official Symbol
AQP7Bprovided by HGNC
Official Full Name
aquaporin 7Bprovided by HGNC
Primary source
HGNC:HGNC:53895
See related
Ensembl:ENSG00000259916
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Expression
Biased expression in fat (RPKM 7.4), liver (RPKM 0.8) and 2 other tissues See more
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Genomic context

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See AQP7B in Genome Data Viewer
Location:
2q11.1
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (94587311..94604628)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (95093039..95111699)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 (PATCHES) NW_003571032.1 (24887..42204)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene MAGE-like protein 2 Neighboring gene BMS1 pseudogene 23 Neighboring gene methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 like pseudogene Neighboring gene uncharacterized LOC107985916 Neighboring gene calponin 2 pseudogene 11

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

GeneRIFs: Gene References Into Functions

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables glycerol channel activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables urea transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables water channel activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in glycerol transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in urea transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
involved_in water transport IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in basolateral plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
aquaporin-7B

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001382497.1 → NP_001369426.1  aquaporin-7B

    Status: VALIDATED

    Source sequence(s)
    AL845331
    Consensus CDS
    CCDS92802.1
    UniProtKB/Swiss-Prot
    A0A075B734
    UniProtKB/TrEMBL
    Q8WX69
    Related
    ENSP00000456868.2, ENST00000561882.2
    Conserved Domains (1) summary
    cl00200
    Location:35 → 284
    MIP; Major intrinsic protein (MIP) superfamily. Members of the MIP superfamily function as membrane channels that selectively transport water, small neutral molecules, and ions out of and between cells. The channel proteins share a common fold: the N-terminal ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    94587311..94604628
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005276965.6 → XP_005277022.1  aquaporin-7B isoform X2

    See identical proteins and their annotated locations for XP_005277022.1

    UniProtKB/TrEMBL
    A0A8Q3SI91
    Related
    ENSP00000512391.1, ENST00000696094.1
    Conserved Domains (1) summary
    cl00200
    Location:55 → 157
    MIP; Major intrinsic protein (MIP) superfamily. Members of the MIP superfamily function as membrane channels that selectively transport water, small neutral molecules, and ions out of and between cells. The channel proteins share a common fold: the N-terminal ...

  2. XM_006712884.4 → XP_006712947.1  aquaporin-7B isoform X2

    See identical proteins and their annotated locations for XP_006712947.1

    UniProtKB/TrEMBL
    A0A8Q3SI91
    Related
    ENSP00000512392.1, ENST00000696095.1
    Conserved Domains (1) summary
    cl00200
    Location:55 → 157
    MIP; Major intrinsic protein (MIP) superfamily. Members of the MIP superfamily function as membrane channels that selectively transport water, small neutral molecules, and ions out of and between cells. The channel proteins share a common fold: the N-terminal ...

  3. XM_006712887.4 → XP_006712950.1  aquaporin-7B isoform X5

    UniProtKB/Swiss-Prot
    A0A075B734
    Related
    ENSP00000512393.1, ENST00000696097.1
    Conserved Domains (1) summary
    cl00200
    Location:64 → 313
    MIP; Major intrinsic protein (MIP) superfamily. Members of the MIP superfamily function as membrane channels that selectively transport water, small neutral molecules, and ions out of and between cells. The channel proteins share a common fold: the N-terminal ...

  4. XM_017005467.2 → XP_016860956.1  aquaporin-7B isoform X1

    Related
    ENSP00000512394.1, ENST00000696098.1

  5. XM_017005468.3 → XP_016860957.1  aquaporin-7B isoform X3

    UniProtKB/TrEMBL
    A0A8Q3WL09
    Related
    ENSP00000512396.1, ENST00000696100.1
    Conserved Domains (1) summary
    cl00200
    Location:40 → 142
    MIP; Major intrinsic protein (MIP) superfamily. Members of the MIP superfamily function as membrane channels that selectively transport water, small neutral molecules, and ions out of and between cells. The channel proteins share a common fold: the N-terminal ...

  6. XM_017005469.3 → XP_016860958.1  aquaporin-7B isoform X4

    UniProtKB/TrEMBL
    A0A8Q3SJ69
    Related
    ENSP00000512395.1, ENST00000696099.1
    Conserved Domains (1) summary
    cl00200
    Location:3 → 129
    MIP; Major intrinsic protein (MIP) superfamily. Members of the MIP superfamily function as membrane channels that selectively transport water, small neutral molecules, and ions out of and between cells. The channel proteins share a common fold: the N-terminal ...

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    95093039..95111699
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054340077.1 → XP_054196052.1  aquaporin-7B isoform X2

    UniProtKB/TrEMBL
    A0A8Q3SI91

  2. XM_054340078.1 → XP_054196053.1  aquaporin-7B isoform X2

    UniProtKB/TrEMBL
    A0A8Q3SI91

  3. XM_054340081.1 → XP_054196056.1  aquaporin-7B isoform X5

  4. XM_054340076.1 → XP_054196051.1  aquaporin-7B isoform X1

  5. XM_054340079.1 → XP_054196054.1  aquaporin-7B isoform X3

    UniProtKB/TrEMBL
    A0A8Q3WL09

  6. XM_054340080.1 → XP_054196055.1  aquaporin-7B isoform X4

    UniProtKB/TrEMBL
    A0A8Q3SJ69
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A0A075B734.1 GenPept UniProtKB/Swiss-Prot:A0A075B734

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