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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).

Additional gene information for LOXHD1 Gene

No data available for CIViC summary , 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
GH18H046600 0.5 FANTOM5 Ensembl 3.1 +56.0 56043 1 RNF165 LOXHD1 GC18M046613 GC18P046580
GH18H046540 0.3 FANTOM5 4.8 +116.6 116608 0 LOXHD1 GC18P046558 GC18P046450
GH18H046658 0.8 ENCODE 0.7 -1.3 -1299 0 ELF3 CTCF TFAP4 ZSCAN9 RAD21 ZBTB48 HNF4G SMC3 ZNF143 PRDM10 LOC105372096 LOXHD1
GH18H046661 0.5 ENCODE 0.7 -4.1 -4069 0 POLR2A NFYB NFYC USF2 LOC105372096 LOXHD1
GH18H046623 0.6 Ensembl ENCODE 0.3 +33.4 33441 0 CTCF 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

Chromosome:
18
Start:
46,476,961 bp from pter
End:
46,657,114 bp from pter
Size:
180,154 bases
Orientation:
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:
    Q8IVV2-LOXH1_HUMAN
    Recommended name:
    Lipoxygenase homology domain-containing protein 1
    Protein Accession:
    Q8IVV2
    Secondary Accessions:
    • B7WNN3
    • B7WNT1
    • B7WPI9
    • Q6ZRY7
    • Q86WW9
    • Q96DL7

    Protein attributes for LOXHD1 Gene

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

    Alternative splice isoforms for LOXHD1 Gene

    UniProtKB/Swiss-Prot:

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

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for LOXHD1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for LOXHD1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for LOXHD1 Gene

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).

Phenotypes From GWAS Catalog for LOXHD1 Gene

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

CRISPR Products

miRNA for LOXHD1 Gene

miRTarBase miRNAs that target LOXHD1

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for LOXHD1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

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 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 ISS --
GO:0042995 cell projection IEA --
genes like me logo Genes that share ontologies with LOXHD1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for LOXHD1 Gene

Pathways & Interactions for LOXHD1 Gene

SuperPathways for LOXHD1 Gene

No Data Available

Interacting Proteins for LOXHD1 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000300591%0d%0a9606.ENSP00000338160%0d%0a9606.ENSP00000001008%0d%0a
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 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

Drugs & Compounds for LOXHD1 Gene

No Compound Related Data Available

Transcripts for LOXHD1 Gene

Unigene Clusters for LOXHD1 Gene

Lipoxygenase homology domains 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for LOXHD1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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: - - - -
SP3:
SP4:
SP5: - -
SP6: -
SP7:
SP8: - -

ExUns: 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29a · 29b · 29c ^ 30a · 30b
SP1: - -
SP2: -
SP3: -
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for LOXHD1 Gene

GeneLoc Exon Structure for
LOXHD1
ECgene alternative splicing isoforms for
LOXHD1

Expression for LOXHD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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:

LOXHD1

SOURCE GeneReport for Unigene cluster for LOXHD1 Gene:

Hs.345877

Evidence on tissue expression from TISSUES for LOXHD1 Gene

  • Nervous system(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for LOXHD1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • head
  • inner ear
  • middle ear
  • outer ear
  • skull
General:
  • peripheral nerve
  • peripheral nervous system
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
chimpanzee
(Pan troglodytes)
Mammalia LOXHD1 34 33
  • 98.04 (n)
OneToOne
dog
(Canis familiaris)
Mammalia LOXHD1 33 34
  • 90.31 (n)
cow
(Bos Taurus)
Mammalia LOXHD1 34 33
  • 89.93 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Loxhd1 33
  • 88.09 (n)
mouse
(Mus musculus)
Mammalia Loxhd1 34
  • 50 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia LOXHD1 34
  • 44 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LOXHD1 34
  • 42 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOXHD1 34 33
  • 68.53 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LOXHD1 34
  • 31 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia loxhd1 33
  • 65.83 (n)
zebrafish
(Danio rerio)
Actinopterygii loxhd1b 33 34
  • 64.9 (n)
loxhd1a 34
  • 29 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 16 (a)
OneToOne
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

ENSEMBL:
Gene Tree for LOXHD1 (if available)
TreeFam:
Gene Tree for LOXHD1 (if available)

Paralogs for LOXHD1 Gene

Pseudogenes.org 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, stop-gained
rs201587138 Pathogenic 46,529,227(+) GTATC(A/G/T)CTCCC intron-variant, reference, synonymous-codon, 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
dgv3345n100 CNV gain 25217958
esv25184 CNV gain 19812545
esv3303000 CNV tandem duplication 20981092
esv3642435 CNV loss 21293372
esv3642436 CNV loss 21293372
esv3642438 CNV gain 21293372
nsv428355 CNV gain 18775914
nsv472912 CNV novel sequence insertion 20440878
nsv474675 CNV novel sequence insertion 20440878
nsv478435 CNV novel sequence insertion 20440878
nsv515609 CNV gain 19592680

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)
LOXHD1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LOXHD1

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

Disorders for LOXHD1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for LOXHD1 Gene - From: HGMD, 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
nonsyndromic deafness
  • nonsyndromic hearing loss
nonsyndromic hearing loss and deafness
autosomal recessive non-syndromic sensorineural deafness type dfnb
  • autosomal recessive isolated neurosensory deafness type dfnb
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

LOXH1_HUMAN
  • 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)
LOXHD1
Human Genome Epidemiology (HuGE) Navigator
LOXHD1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LOXHD1
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 … Müller U (American journal of human genetics 2009) 2 3 4 60
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  4. Analysis of SLC4A11, ZEB1, LOXHD1, COL8A2 and TCF4 gene sequences in a multi-generational family with late-onset Fuchs corneal dystrophy. (PMID: 27121161) Tang H … Guo Q (International journal of molecular medicine 2016) 3 60
  5. Clinical characteristics of a Japanese family with hearing loss accompanied by compound heterozygous mutations in LOXHD1. (PMID: 26973026) Minami SB … Matsunaga T (Auris, nasus, larynx 2016) 3 60

Products for LOXHD1 Gene

Sources for LOXHD1 Gene

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