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This gene encodes a member of a family of small membrane proteins that share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD and containing 7 invariant and 6 highly conserved amino acids. The approved human gene nomenclature for the family is FXYD-domain containing ion transport regulator. FXYD4, originally named CHIF for channel-inducing factor, ha... See more...
Aliases for FXYD4 Gene
Aliases for FXYD4 Gene
External Ids for FXYD4 Gene
- HGNC: 4028
- Entrez Gene: 53828
- Ensembl: ENSG00000150201
- OMIM: 616926
- UniProtKB: P59646
Previous GeneCards Identifiers for FXYD4 Gene
- GC00U990738
- GC10M043337
- GC10P043642
- GC10P043151
- GC10P043187
- GC10P043867
- GC10P040393
Summaries for FXYD4 Gene
-
This gene encodes a member of a family of small membrane proteins that share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD and containing 7 invariant and 6 highly conserved amino acids. The approved human gene nomenclature for the family is FXYD-domain containing ion transport regulator. FXYD4, originally named CHIF for channel-inducing factor, has been shown to modulate the properties of the Na,K-ATPase, as has FXYD2, also known as the gamma subunit of the Na,K-ATPase, and FXYD7. Transmembrane topology has been established for FXYD4 and two family members (FXYD1 and FXYD2), with the N-terminus extracellular and the C-terminus on the cytoplasmic side of the membrane. Alternatively spliced transcript variants encoding the same protein have been found.[provided by RefSeq, May 2010]
GeneCards Summary for FXYD4 Gene
FXYD4 (FXYD Domain Containing Ion Transport Regulator 4) is a Protein Coding gene. Diseases associated with FXYD4 include Deafness, Autosomal Recessive 33. Among its related pathways are Cardiac conduction and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include ion channel activity and potassium channel activity. An important paralog of this gene is ENSG00000285526.
Additional gene information for FXYD4 Gene
- HGNC(4028)
- Entrez Gene(53828)
- Ensembl(ENSG00000150201)
- OMIM(616926)
- UniProtKB(P59646)
- Open Targets Platform(ENSG00000150201)
- Search for FXYD4 at DataMed
- Search for FXYD4 at HumanCyc
No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FXYD4 Gene
Genomics for FXYD4 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for FXYD4 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around FXYD4 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FXYD4
- Top Transcription factor binding sites by QIAGEN in the FXYD4 gene promoter:
-
- AREB6
- En-1
- GR
- GR-alpha
- GR-beta
- Pax-4a
- Pax-5
- Pbx1a
- PPAR-alpha
- Spz1
Genomic Locations for FXYD4 Gene
Genomic Locations for FXYD4 Gene
- chr10:43,371,636-43,376,335
- (GRCh38/hg38)
- Size:
- 4,700 bases
- Orientation:
- Plus strand
- chr10:43,867,090-43,871,783
- (GRCh37/hg19)
- Size:
- 4,694 bases
- Orientation:
- Plus strand
Genomic View for FXYD4 Gene
Genes around FXYD4 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 10q11.21 by HGNC
- 10q11.21 by Entrez Gene
- 10q11.21 by Ensembl
FXYD4 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for FXYD4 Gene
Proteins for FXYD4 Gene
-
Protein details for FXYD4 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P59646-FXYD4_HUMAN
- Recommended name:
- FXYD domain-containing ion transport regulator 4
- Protein Accession:
- P59646
- Q6UWZ1
- Q7Z4M5
Protein attributes for FXYD4 Gene
- Size:
- 89 amino acids
- Molecular mass:
- 9373 Da
- Quaternary structure:
- No Data Available
Post-translational modifications for FXYD4 Gene
Other Protein References for FXYD4 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for FXYD4
- Invitrogen Antibodies for FXYD4 (AFLGC-FXYD4)
- antibodies-online: Show 6 available FXYD4 Antibodies ranked by validation data
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-
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Protein Products
-
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- antibodies-online: Show 3 available FXYD4 Proteins ranked by validation data
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-
Quality Products:
No data available for DME Specific Peptides for FXYD4 Gene
Domains & Families for FXYD4 Gene
Gene Families for FXYD4 Gene
- Human Protein Atlas (HPA):
-
- Predicted membrane proteins
Protein Domains for FXYD4 Gene
- InterPro:
- Blocks:
-
- FXYD protein
- ProtoNet:
Suggested Antigen Peptide Sequences for FXYD4 Gene
- GenScript: Design optimal peptide antigens:
-
- FXYD domain-containing ion transport regulator 4 (FXYD4_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P59646- Family:
-
- Belongs to the FXYD family.
Function for FXYD4 Gene
Phenotypes From GWAS Catalog for FXYD4 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005267 | potassium channel activity | IEA | -- |
| GO:0017080 | sodium channel regulator activity | IBA | 21873635 |
| GO:0051117 | ATPase binding | IEA | -- |
| GO:0099106 | ion channel regulator activity | IEA | -- |
Phenotypes for FXYD4 Gene
- MGI mutant phenotypes for FXYD4:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for FXYD4:
Animal Models for FXYD4 Gene
- MGI Knock Outs for FXYD4:
-
- Fxyd4 Fxyd4<tm1Grt>
Animal Model Products
-
Taconic Biosciences Mouse Models for FXYD4
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for FXYD4 - Select products 50% OFF >
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-
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miRNA for FXYD4 Gene
- miRTarBase miRNAs that target FXYD4
miRNA Products
Inhibitory RNA Products
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Clone Products
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- MG218594
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- RC229519
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- RG208892
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- RR208302
- RR208302L3
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- MR218594L3V
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- RR208302L3V
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- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for FXYD4
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Cell Line Products
-
Horizon Cell Lines for FXYD4
No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for FXYD4 Gene
Localization for FXYD4 Gene
Subcellular locations from UniProtKB/Swiss-Prot for FXYD4 Gene
- Membrane. Single-pass type I membrane protein.
| Compartment | Confidence |
|---|---|
| plasma membrane | 4 |
| extracellular | 3 |
| nucleus | 1 |
| endoplasmic reticulum | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005886 | plasma membrane | TAS | -- |
| GO:0005890 | sodium:potassium-exchanging ATPase complex | IEA | -- |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for FXYD4 Gene
Pathways & Interactions for FXYD4 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Cardiac conduction |
.39
|
|
| 2 | Aldosterone-regulated sodium reabsorption | ||
| 3 | Ion channel transport | ||
| 4 | Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds | ||
Pathways by source for FXYD4 Gene
6 Reactome pathways for FXYD4 Gene
1 KEGG pathway for FXYD4 Gene
Interacting Proteins for FXYD4 Gene
GPS-Prot Interaction Network for FXYD4
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006811 | ion transport | IEA | -- |
| GO:0015672 | monovalent inorganic cation transport | IEA | -- |
| GO:0034220 | ion transmembrane transport | TAS | -- |
| GO:0043269 | regulation of ion transport | IEA | -- |
| GO:0071805 | potassium ion transmembrane transport | IEA | -- |
No data available for SIGNOR curated interactions for FXYD4 Gene
Transcripts for FXYD4 Gene
mRNA/cDNA for FXYD4 Gene
- 2 REFSEQ mRNAs :
- 6 NCBI additional mRNA sequence :
- 4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000476166 779 nts (view in UCSC)
- ENST00000479189 328 nts (view in UCSC)
- ENST00000480834 490 nts (view in UCSC)
- ENST00000616495 778 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for FXYD4 - Select products 50% OFF >
- * FXYD4 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for FXYD4
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for FXYD4
-
Santa Cruz Biotechnology (SCBT) CRISPR for FXYD4
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for FXYD4
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Clone Products
- Applied Biological Materials (abm): Clones for FXYD4 - Select products 50% OFF >
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- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG218594
- MG219235
- MR218594
- MR218594L3
- MR218594L4
- MR219235
- MR219235L3
- MR219235L4
- RC208892
- RC208892L1
- RC208892L2
- RC208892L3
- RC208892L4
- RC229519
- RC229519L3
- RC229519L4
- RG208892
- RG229519
- RR208302
- RR208302L3
- RR208302L4
- MR218594L3V
- MR218594L4V
- MR219235L3V
- MR219235L4V
- RC208892L1V
- RC208892L2V
- RC208892L3V
- RC208892L4V
- RC229519L3V
- RC229519L4V
- RR208302L3V
- RR208302L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for FXYD4
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for FXYD4
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||||||||||||||
| SP2: | - |
Relevant External Links for FXYD4 Gene
- GeneLoc Exon Structure for
- FXYD4
Expression for FXYD4 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Kidney (Urinary System)
mRNA differential expression in normal tissues according to GTEx for FXYD4 Gene
This gene is overexpressed in Kidney - Cortex (x42.4).
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FXYD4
SOURCE GeneReport for Unigene cluster for FXYD4 Gene:
Hs.130497Evidence on tissue expression from TISSUES for FXYD4 Gene
- Kidney(4.7)
Primer Products
-
OriGene qPCR primer pairs for FXYD4
-
OriGene qPCR primer pairs and template standards for FXYD4
Gene Expression Assay Products
No data available for 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 FXYD4 Gene
Orthologs for FXYD4 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | FXYD4 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | FXYD4 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | FXYD4 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Fxyd4 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Fxyd4 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
| Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany |
- Species where no ortholog for FXYD4 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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)
- Chicken (Gallus gallus)
- 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)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (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)
- Zebrafish (Danio rerio)
Evolution for FXYD4 Gene
- ENSEMBL:
- Gene Tree for FXYD4 (if available)
- TreeFam:
- Gene Tree for FXYD4 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for FXYD4: view image
Paralogs for FXYD4 Gene
Variants for FXYD4 Gene
Residual Variation Intolerance Score:
52.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
3.43;
54.59% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for FXYD4 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- FXYD4
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FXYD4 Gene
Disorders for FXYD4 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| deafness, autosomal recessive 33 |
|
|
Search FXYD4 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for FXYD4
No data available for UniProtKB/Swiss-Prot and Genatlas for FXYD4 Gene
Publications for FXYD4 Gene
- The FXYD gene family of small ion transport regulators or channels: cDNA sequence, protein signature sequence, and expression. (PMID: 10950925) Sweadner KJ … Rael E (Genomics 2000) 2 3 4 23
- FXYD proteins as regulators of the Na,K-ATPase in the kidney. (PMID: 12763854) Sweadner KJ … Wetzel RK (Annals of the New York Academy of Sciences 2003) 2 3 23
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
- The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P … Rogers J (Nature 2004) 3 4
- The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4
ExternalLinks
Products for FXYD4 Gene
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- OriGene qPCR primer pairs for FXYD4
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- OriGene CRISPR knockouts for FXYD4
- MG218594
- MG219235
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- MR218594L4
- MR219235
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- RC208892L1
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- VectorBuilder CRISPR vectors for FXYD4 (ie. knockout, knockin, CRISPRa, CRISPRi)
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- antibodies-online: Show 6 available FXYD4 Antibodies ranked by validation data
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- Biorbyt antibodies for FXYD4
Sources for FXYD4 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB