Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ENSG00000250424 Gene

Aliases for ENSG00000250424 Gene

  • AC004691.2 5

External Ids for ENSG00000250424 Gene

Previous GeneCards Identifiers for ENSG00000250424 Gene

  • GC07P030893

Summaries for ENSG00000250424 Gene

GeneCards Summary for ENSG00000250424 Gene

ENSG00000250424 is a Protein Coding gene. Diseases associated with ENSG00000250424 include Hydrarthrosis and Spinal Cord Ependymoma. Gene Ontology (GO) annotations related to this gene include transporter activity. An important paralog of this gene is AQP1.

Additional gene information for ENSG00000250424 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ENSG00000250424 Gene

Genomics for ENSG00000250424 Gene

GeneHancer (GH) Regulatory Elements for ENSG00000250424 Gene

Promoters and enhancers for ENSG00000250424 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07I030851 Enhancer 0.6 Ensembl ENCODE dbSUPER 550.8 +0.4 369 2.2 ENSG00000250424 INMT CRHR2 PIR34848 MINDY4 INMT-MINDY4
GH07I030910 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.4 +61.3 61255 6.8 HDGF PKNOX1 SMAD1 ATF1 ARNT TCF12 ZNF766 GATA2 E2F8 ATF7 AQP1 GHRHR ENSG00000250424 MINDY4
GH07I030892 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 11.2 +43.2 43174 5.3 SMAD1 FEZF1 YY1 TCF12 ZNF121 GATA2 NCOA1 MBD2 SMARCA4 MYNN ENSG00000226874 ENSG00000263683 ENSG00000250424 MINDY4 ENSG00000264520 PLEKHA8 AQP1 ADCYAP1R1 OSBPL9P6
GH07I030798 Enhancer 1.3 Ensembl ENCODE dbSUPER 10.3 -51.9 -51938 3.2 FOXA2 INSM2 KLF17 BMI1 BATF IRF4 RAD21 GLIS2 SCRT2 ZNF143 MINDY4 ENSG00000250424 AQP1 ENSG00000229263 INMT INMT-MINDY4
GH07I030794 Enhancer 1 Ensembl ENCODE dbSUPER 10.9 -55.8 -55793 4 JUN ZKSCAN1 ZNF217 JUND CTBP1 POLR2A HNF4A NR2F6 MINDY4 ENSG00000250424 AQP1 ENSG00000229263 INMT ZNRF2 INMT-MINDY4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ENSG00000250424 on UCSC Golden Path with GeneCards custom track

Genomic Locations for ENSG00000250424 Gene

Genomic Locations for ENSG00000250424 Gene
chr7:30,852,273-30,923,812
(GRCh38/hg38)
Size:
71,540 bases
Orientation:
Plus strand
chr7:30,893,010-30,963,427
(GRCh37/hg19)

Genomic View for ENSG00000250424 Gene

Genes around ENSG00000250424 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ENSG00000250424 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ENSG00000250424 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

No data available for RefSeq DNA sequence for ENSG00000250424 Gene

Proteins for ENSG00000250424 Gene

  • Protein details for ENSG00000250424 Gene (UniProtKB/TrEMBL)

    Protein Symbol:
    K7N7A8
    Recommended name:
    Uncharacterized protein
    Protein Accession:
    K7N7A8

    Protein attributes for ENSG00000250424 Gene

    Size:
    449 amino acids
    Molecular mass:
    48797 Da
    Quaternary structure:
    No Data Available

neXtProt entry for ENSG00000250424 Gene

Post-translational modifications for ENSG00000250424 Gene

No Post-translational modifications

Other Protein References for ENSG00000250424 Gene

ENSEMBL proteins:

No data available for DME Specific Peptides for ENSG00000250424 Gene

Domains & Families for ENSG00000250424 Gene

Protein Domains for ENSG00000250424 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with ENSG00000250424: view

No data available for Gene Families , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for ENSG00000250424 Gene

Function for ENSG00000250424 Gene

Phenotypes From GWAS Catalog for ENSG00000250424 Gene

Gene Ontology (GO) - Molecular Function for ENSG00000250424 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008519 ammonium transmembrane transporter activity IBA --
GO:0015250 water channel activity IBA --
GO:0015267 channel activity IEA --
GO:0035379 carbon dioxide transmembrane transporter activity IBA --
genes like me logo Genes that share ontologies with ENSG00000250424: view

Animal Model Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ENSG00000250424 Gene

Localization for ENSG00000250424 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ENSG00000250424 gene
Compartment Confidence
plasma membrane 3
extracellular 2
cytoskeleton 1
endoplasmic reticulum 1
cytosol 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ENSG00000250424 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005887 integral component of plasma membrane IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0016323 basolateral plasma membrane IBA --
genes like me logo Genes that share ontologies with ENSG00000250424: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for ENSG00000250424 Gene

Pathways & Interactions for ENSG00000250424 Gene

SuperPathways for ENSG00000250424 Gene

No Data Available

Interacting Proteins for ENSG00000250424 Gene

Gene Ontology (GO) - Biological Process for ENSG00000250424 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006833 water transport IEA --
GO:0035378 carbon dioxide transmembrane transport IEA --
GO:0055085 transmembrane transport IEA --
GO:0072488 ammonium transmembrane transport IBA --
genes like me logo Genes that share ontologies with ENSG00000250424: view

No data available for Pathways by source and SIGNOR curated interactions for ENSG00000250424 Gene

Drugs & Compounds for ENSG00000250424 Gene

No Compound Related Data Available

Transcripts for ENSG00000250424 Gene

mRNA/cDNA for ENSG00000250424 Gene

(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for ENSG00000250424 Gene

No ASD Table

Relevant External Links for ENSG00000250424 Gene

GeneLoc Exon Structure for
ENSG00000250424

Expression for ENSG00000250424 Gene

Evidence on tissue expression from TISSUES for ENSG00000250424 Gene

  • Kidney(2.3)
No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ENSG00000250424 Gene

Orthologs for ENSG00000250424 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ENSG00000250424 Gene

Organism Taxonomy Gene Similarity Type Details
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 90 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Aqp1 34
  • 87 (a)
OneToMany
dog
(Canis familiaris)
Mammalia AQP1 34
  • 86 (a)
OneToMany
cow
(Bos Taurus)
Mammalia AQP1 34
  • 85 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 70 (a)
OneToMany
chicken
(Gallus gallus)
Aves AQP1 34
  • 80 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 83 (a)
ManyToMany
-- 34
  • 73 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii aqp1a.1 34
  • 56 (a)
ManyToMany
aqp1a.2 34
  • 51 (a)
ManyToMany
Species where no ortholog for ENSG00000250424 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ENSG00000250424 Gene

ENSEMBL:
Gene Tree for ENSG00000250424 (if available)
TreeFam:
Gene Tree for ENSG00000250424 (if available)

Paralogs for ENSG00000250424 Gene

Paralogs for ENSG00000250424 Gene

Pseudogenes.org Pseudogenes for ENSG00000250424 Gene

genes like me logo Genes that share paralogs with ENSG00000250424: view

Variants for ENSG00000250424 Gene

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations from dbSNP and Humsavar , Structural Variations from Database of Genomic Variants (DGV) , Variation tolerance and Additional Variant Information for ENSG00000250424 Gene

Disorders for ENSG00000250424 Gene

MalaCards: The human disease database

(2) MalaCards diseases for ENSG00000250424 Gene - From: DISEASES

Disorder Aliases PubMed IDs
hydrarthrosis
spinal cord ependymoma
  • ependymal neoplasm of the spinal cord
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with ENSG00000250424: view

No data available for UniProtKB/Swiss-Prot , Genatlas and External Links for ENSG00000250424 Gene

Publications for ENSG00000250424 Gene

No publications were found for ENSG00000250424 Gene.

Products for ENSG00000250424 Gene

Sources for ENSG00000250424 Gene

Content
Loading form....