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Aliases for LOXHD1 Gene

Aliases for LOXHD1 Gene

  • Lipoxygenase Homology Domains 1 2 3 5
  • Lipoxygenase Homology Domain-Containing Protein 1 3
  • Deafness, Autosomal Recessive 77 2
  • DFNB77 3
  • LH2D1 3

External Ids for LOXHD1 Gene

Previous HGNC Symbols for LOXHD1 Gene

  • DFNB77

Previous GeneCards Identifiers for LOXHD1 Gene

  • GC18M042309
  • GC18M042310
  • GC18M044056
  • GC18M040914

Summaries for LOXHD1 Gene

Entrez Gene Summary for LOXHD1 Gene

  • This gene encodes a highly conserved protein consisting entirely of PLAT (polycystin/lipoxygenase/alpha-toxin) domains, thought to be involved in targeting proteins to the plasma membrane. Studies in mice show that this gene is expressed in the mechanosensory hair cells in the inner ear, and mutations in this gene lead to auditory defects, indicating that this gene is essential for normal hair cell function. Screening of human families segregating deafness identified a mutation in this gene which causes DFNB77, a progressive form of autosomal-recessive nonsyndromic hearing loss (ARNSHL). Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2010]

GeneCards Summary for LOXHD1 Gene

LOXHD1 (Lipoxygenase Homology Domains 1) is a Protein Coding gene. Diseases associated with LOXHD1 include Deafness, Autosomal Recessive 77 and Dfnb77 Nonsyndromic Hearing Loss And Deafness. GO annotations related to this gene include calcium channel activity.

UniProtKB/Swiss-Prot for LOXHD1 Gene

  • Involved in hearing. Required for normal function of hair cells in the inner ear (By similarity).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LOXHD1 Gene

Genomics for LOXHD1 Gene

Regulatory Elements for LOXHD1 Gene

Enhancers for LOXHD1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH18F046600 0.5 FANTOM5 Ensembl 3.1 +56.2 56171 1.9 RNF165 LOXHD1 GC18M046613 GC18P046580
GH18F046540 0.3 FANTOM5 4.8 +116.6 116608 0.3 LOXHD1 GC18P046558 GC18P046450
GH18F046658 0.8 ENCODE 0.8 -1.3 -1299 0.2 ELF3 ZSCAN9 RAD21 ZNF143 ZNF391 DEK MIXL1 THAP11 ZNF263 ZNF654 LOXHD1 LOC105372096
GH18F046661 0.5 ENCODE 0.8 -4.1 -4069 0.1 POLR2A NFYB NFYC USF2 LOXHD1 LOC105372096
GH18F046623 0.8 Ensembl ENCODE 0.3 +33.3 33314 1.2 CTCF ZNF654 SMC3 RAD21 EGR2 GC18M046613 LOXHD1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around LOXHD1 on UCSC Golden Path with GeneCards custom track

Genomic Location for LOXHD1 Gene

46,476,961 bp from pter
46,657,114 bp from pter
180,154 bases
Minus strand

Genomic View for LOXHD1 Gene

Genes around LOXHD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LOXHD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LOXHD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LOXHD1 Gene

Proteins for LOXHD1 Gene

  • Protein details for LOXHD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Lipoxygenase homology domain-containing protein 1
    Protein Accession:
    Secondary Accessions:
    • B7WNN3
    • B7WNT1
    • B7WPI9
    • Q6ZRY7
    • Q86WW9
    • Q96DL7

    Protein attributes for LOXHD1 Gene

    1947 amino acids
    Molecular mass:
    221947 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for LOXHD1 Gene


neXtProt entry for LOXHD1 Gene

Post-translational modifications for LOXHD1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for LOXHD1 Gene

Domains & Families for LOXHD1 Gene

Gene Families for LOXHD1 Gene

Protein Domains for LOXHD1 Gene


Suggested Antigen Peptide Sequences for LOXHD1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Contains 14 PLAT domains.
  • Contains 14 PLAT domains.
genes like me logo Genes that share domains with LOXHD1: view

Function for LOXHD1 Gene

Molecular function for LOXHD1 Gene

UniProtKB/Swiss-Prot Function:
Involved in hearing. Required for normal function of hair cells in the inner ear (By similarity).

Gene Ontology (GO) - Molecular Function for LOXHD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005262 calcium channel activity IBA --
genes like me logo Genes that share ontologies with LOXHD1: view
genes like me logo Genes that share phenotypes with LOXHD1: view

Human Phenotype Ontology for LOXHD1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for LOXHD1 Gene

miRTarBase miRNAs that target LOXHD1

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for LOXHD1 Gene

Localization for LOXHD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LOXHD1 Gene

Cell projection, stereocilium.

Subcellular locations from

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 LOXHD1 gene
Compartment Confidence
cytosol 3
nucleus 1

Gene Ontology (GO) - Cellular Components for LOXHD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IBA --
GO:0032420 stereocilium IEA,ISS --
GO:0042995 cell projection IEA --
genes like me logo Genes that share ontologies with LOXHD1: view

Pathways & Interactions for LOXHD1 Gene

SuperPathways for LOXHD1 Gene

No Data Available

Interacting Proteins for LOXHD1 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
Selected Interacting proteins: Q8IVV2-LOXH1_HUMAN ENSP00000300591 for LOXHD1 Gene via IID STRING

Gene Ontology (GO) - Biological Process for LOXHD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007605 sensory perception of sound IEA,IMP 19732867
GO:0050982 detection of mechanical stimulus IBA --
GO:0070588 calcium ion transmembrane transport IEA --
genes like me logo Genes that share ontologies with LOXHD1: view

No data available for Pathways by source and SIGNOR curated interactions for LOXHD1 Gene

Transcripts for LOXHD1 Gene

Unigene Clusters for LOXHD1 Gene

Lipoxygenase homology domains 1:
Representative Sequences:

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for LOXHD1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b ^
SP1: - - - - - -
SP2: - - - -
SP5: - -
SP6: -
SP8: - -

ExUns: 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29a · 29b · 29c ^ 30a · 30b
SP1: - -
SP2: -
SP3: -

Relevant External Links for LOXHD1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for LOXHD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for LOXHD1 Gene

mRNA differential expression in normal tissues according to GTEx for LOXHD1 Gene

This gene is overexpressed in Testis (x18.1) and Whole Blood (x8.3).

Protein differential expression in normal tissues from HIPED for LOXHD1 Gene

This gene is overexpressed in Urine (60.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for LOXHD1 Gene

NURSA nuclear receptor signaling pathways regulating expression of LOXHD1 Gene:


SOURCE GeneReport for Unigene cluster for LOXHD1 Gene:

genes like me logo Genes that share expression patterns with LOXHD1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for LOXHD1 Gene

Orthologs for LOXHD1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for LOXHD1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia LOXHD1 34 35
  • 98.04 (n)
(Canis familiaris)
Mammalia LOXHD1 34 35
  • 90.31 (n)
(Bos Taurus)
Mammalia LOXHD1 34 35
  • 89.93 (n)
(Rattus norvegicus)
Mammalia Loxhd1 34
  • 88.09 (n)
(Mus musculus)
Mammalia Loxhd1 35
  • 50 (a)
(Monodelphis domestica)
Mammalia LOXHD1 35
  • 44 (a)
(Ornithorhynchus anatinus)
Mammalia LOXHD1 35
  • 42 (a)
(Gallus gallus)
Aves LOXHD1 34 35
  • 68.53 (n)
(Anolis carolinensis)
Reptilia LOXHD1 35
  • 31 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia loxhd1 34
  • 65.83 (n)
(Danio rerio)
Actinopterygii loxhd1b 34 35
  • 64.9 (n)
loxhd1a 35
  • 29 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 16 (a)
Species where no ortholog for LOXHD1 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)
  • 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 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for LOXHD1 Gene

Gene Tree for LOXHD1 (if available)
Gene Tree for LOXHD1 (if available)

Paralogs for LOXHD1 Gene Pseudogenes for LOXHD1 Gene

genes like me logo Genes that share paralogs with LOXHD1: view

No data available for Paralogs for LOXHD1 Gene

Variants for LOXHD1 Gene

Sequence variations from dbSNP and Humsavar for LOXHD1 Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type
rs121918370 Pathogenic 46,572,125(-) TGGTC(C/T)GAGAG reference, stop-gained
rs188119157 Pathogenic 46,563,166(+) GACTC(A/G/T)GGCAC reference, synonymous-codon, stop-gained
rs201587138 Pathogenic 46,529,227(+) GTATC(A/G)CTCCC intron-variant, reference, stop-gained
rs373937326 Pathogenic 46,534,448(+) ATCTT(A/C)TAACT reference, stop-gained
rs727503146 Pathogenic 46,566,391(-) CCTGG(-/G)CAGCG reference, frameshift-variant

Structural Variations from Database of Genomic Variants (DGV) for LOXHD1 Gene

Variant ID Type Subtype PubMed ID
nsv515609 CNV gain 19592680
nsv478435 CNV novel sequence insertion 20440878
nsv474675 CNV novel sequence insertion 20440878
nsv472912 CNV novel sequence insertion 20440878
nsv428355 CNV gain 18775914
esv3642438 CNV gain 21293372
esv3642436 CNV loss 21293372
esv3642435 CNV loss 21293372
esv3303000 CNV tandem duplication 20981092
esv25184 CNV gain 19812545
dgv3345n100 CNV gain 25217958

Variation tolerance for LOXHD1 Gene

Gene Damage Index Score: 15.35; 97.08% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LOXHD1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LOXHD1 Gene

Disorders for LOXHD1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for LOXHD1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
deafness, autosomal recessive 77
  • autosomal recessive nonsyndromic deafness 77
dfnb77 nonsyndromic hearing loss and deafness
  • dfnb 63 nonsyndromic hearing loss and deafness
autosomal recessive non-syndromic sensorineural deafness type dfnb
  • autosomal recessive isolated neurosensory deafness type dfnb
fuchs' endothelial dystrophy
  • fced
- elite association - COSMIC cancer census association via MalaCards


  • Deafness, autosomal recessive, 77 (DFNB77) [MIM:613079]: A form of non-syndromic deafness characterized by preserved low-frequency hearing, and a trend toward mild to moderate mid-frequency and high-frequency hearing loss during childhood and adolescence. Hearing loss progresses to become moderate to severe at mid and high frequencies during adulthood. {ECO:0000269 PubMed:19732867}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for LOXHD1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with LOXHD1: view

No data available for Genatlas for LOXHD1 Gene

Publications for LOXHD1 Gene

  1. Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans. (PMID: 19732867) Grillet N. … Mueller U. (Am. J. Hum. Genet. 2009) 2 3 4 64
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. Mutations in LOXHD1 gene cause various types and severities of hearing loss. (PMID: 25792669) Mori K. … Usami S. (Ann. Otol. Rhinol. Laryngol. 2015) 3 64
  5. Mutations in LOXHD1, a recessive-deafness locus, cause dominant late-onset Fuchs corneal dystrophy. (PMID: 22341973) Riazuddin S.A. … Gottsch J.D. (Am. J. Hum. Genet. 2012) 3 64

Products for LOXHD1 Gene

Sources for LOXHD1 Gene

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