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Aliases for FAM83H Gene

Aliases for FAM83H Gene

  • Family With Sequence Similarity 83, Member H 2 3
  • FAM83H Variant 1 3
  • FAM83H Variant 2 3
  • AI3 3

External Ids for FAM83H Gene

Previous GeneCards Identifiers for FAM83H Gene

  • GC08M144879
  • GC08M144806
  • GC08M140058

Summaries for FAM83H Gene

Entrez Gene Summary for FAM83H Gene

  • The protein encoded by this gene plays an important role in the structural development and calcification of tooth enamel. Defects in this gene are a cause of amelogenesis imperfecta type 3 (AI3). [provided by RefSeq, Mar 2010]

GeneCards Summary for FAM83H Gene

FAM83H (Family With Sequence Similarity 83, Member H) is a Protein Coding gene. Diseases associated with FAM83H include hypocalcified amelogenesis imperfecta and amelogenesis imperfecta, type iii. An important paralog of this gene is FAM83D.

UniProtKB/Swiss-Prot for FAM83H Gene

  • May play a major role in the structural organization and calcification of developing enamel.

Gene Wiki entry for FAM83H Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAM83H Gene

Genomics for FAM83H Gene

Regulatory Elements for FAM83H Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for FAM83H Gene

Chromosome:
8
Start:
143,723,933 bp from pter
End:
143,738,030 bp from pter
Size:
14,098 bases
Orientation:
Minus strand

Genomic View for FAM83H Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for FAM83H Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM83H Gene

Proteins for FAM83H Gene

  • Protein details for FAM83H Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ZRV2-FA83H_HUMAN
    Recommended name:
    Protein FAM83H
    Protein Accession:
    Q6ZRV2
    Secondary Accessions:
    • A0JLS2
    • Q8N4W0

    Protein attributes for FAM83H Gene

    Size:
    1179 amino acids
    Molecular mass:
    127122 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAC87207.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

neXtProt entry for FAM83H Gene

Proteomics data for FAM83H Gene at MOPED

Post-translational modifications for FAM83H Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FAM83H Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FAM83H Gene

Domains & Families for FAM83H Gene

Protein Domains for FAM83H Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FAM83H Gene

Graphical View of Domain Structure for InterPro Entry

Q6ZRV2

UniProtKB/Swiss-Prot:

FA83H_HUMAN :
  • Belongs to the FAM83 family.
Family:
  • Belongs to the FAM83 family.
genes like me logo Genes that share domains with FAM83H: view

No data available for Gene Families for FAM83H Gene

Function for FAM83H Gene

Molecular function for FAM83H Gene

UniProtKB/Swiss-Prot Function:
May play a major role in the structural organization and calcification of developing enamel.

Gene Ontology (GO) - Molecular Function for FAM83H Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0019901 protein kinase binding IPI 23902688
GO:1990254 keratin filament binding IDA 23902688
genes like me logo Genes that share ontologies with FAM83H: view

Phenotypes for FAM83H Gene

genes like me logo Genes that share phenotypes with FAM83H: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for FAM83H Gene

Localization for FAM83H Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FAM83H Gene COMPARTMENTS Subcellular localization image for FAM83H gene
Compartment Confidence
cytosol 2

Gene Ontology (GO) - Cellular Components for FAM83H Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0045095 colocalizes_with keratin filament IDA 23902688
genes like me logo Genes that share ontologies with FAM83H: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for FAM83H Gene

Pathways & Interactions for FAM83H Gene

SuperPathways for FAM83H Gene

No Data Available

Interacting Proteins for FAM83H Gene

Selected Interacting proteins: Q6ZRV2-FA83H_HUMAN for FAM83H Gene via I2D

Gene Ontology (GO) - Biological Process for FAM83H Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030335 positive regulation of cell migration IMP 23902688
GO:0031214 biomineral tissue development IEA --
GO:0044380 protein localization to cytoskeleton IMP 23902688
GO:0045104 intermediate filament cytoskeleton organization IMP 23902688
genes like me logo Genes that share ontologies with FAM83H: view

No data available for Pathways by source and SIGNOR curated interactions for FAM83H Gene

Drugs & Compounds for FAM83H Gene

No Compound Related Data Available

Transcripts for FAM83H Gene

Alternative Splicing Database (ASD) splice patterns (SP) for FAM83H Gene

No ASD Table

Relevant External Links for FAM83H Gene

GeneLoc Exon Structure for
FAM83H
ECgene alternative splicing isoforms for
FAM83H

Expression for FAM83H Gene

mRNA expression in normal human tissues for FAM83H Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FAM83H Gene

This gene is overexpressed in Esophagus - Mucosa (x10.3), Skin - Not Sun Exposed (Suprapubic) (x4.7), and Skin - Sun Exposed (Lower leg) (x4.6).

Protein differential expression in normal tissues from HIPED for FAM83H Gene

This gene is overexpressed in Cervix (50.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for FAM83H Gene



SOURCE GeneReport for Unigene cluster for FAM83H Gene Hs.67776

mRNA Expression by UniProt/SwissProt for FAM83H Gene

Q6ZRV2-FA83H_HUMAN
Tissue specificity: Expressed in the tooth follicle.
genes like me logo Genes that share expression patterns with FAM83H: view

Protein tissue co-expression partners for FAM83H Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for FAM83H Gene

This gene was present in the common ancestor of chordates.

Orthologs for FAM83H Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia FAM83H 35
  • 84.31 (n)
  • 86.64 (a)
FAM83H 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FAM83H 35
  • 85.5 (n)
  • 86.66 (a)
FAM83H 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fam83h 35
  • 80.6 (n)
  • 87.36 (a)
Fam83h 16
Fam83h 36
  • 85 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia FAM83H 35
  • 97.83 (n)
  • 98.03 (a)
FAM83H 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fam83h 35
  • 79.97 (n)
  • 86.59 (a)
oppossum
(Monodelphis domestica)
Mammalia FAM83H 36
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 53 (a)
OneToMany
-- 36
  • 80 (a)
OneToMany
chicken
(Gallus gallus)
Aves FAM83H 35
  • 57.38 (n)
  • 54.34 (a)
FAM83H 36
  • 51 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FAM83H 36
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fam83h 35
  • 51.39 (n)
  • 42.5 (a)
zebrafish
(Danio rerio)
Actinopterygii fam83h 35
  • 57.21 (n)
  • 56.48 (a)
fam83h 36
  • 14 (a)
OneToMany
FAM83H (1 of 2) 36
  • 32 (a)
OneToMany
Species with no ortholog for FAM83H:
  • 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 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FAM83H Gene

ENSEMBL:
Gene Tree for FAM83H (if available)
TreeFam:
Gene Tree for FAM83H (if available)

Paralogs for FAM83H Gene

Paralogs for FAM83H Gene

(1) SIMAP similar genes for FAM83H Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with FAM83H: view

Variants for FAM83H Gene

Sequence variations from dbSNP and Humsavar for FAM83H Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type MAF
rs113442489 -- 143,725,009(+) CCCCC(C/T)GCCCC utr-variant-3-prime
rs137854435 Pathogenic, Pathogenic 143,728,488(-) CTAAA(C/T)GAGCG reference, stop-gained
rs137854436 Pathogenic, Pathogenic 143,728,269(-) TCTTC(C/T)AGGCG reference, stop-gained
rs137854437 Pathogenic, Pathogenic 143,728,218(-) CGACC(A/G/T)AGGGC reference, stop-gained
rs137854438 Pathogenic, Pathogenic 143,728,570(-) GCCTA(A/T)GCCCT stop-gained, reference

Structural Variations from Database of Genomic Variants (DGV) for FAM83H Gene

Variant ID Type Subtype PubMed ID
dgv7935n71 CNV Loss 21882294
dgv7938n71 CNV Loss 21882294
dgv7939n71 CNV Loss 21882294
dgv7940n71 CNV Loss 21882294
nsv891747 CNV Loss 21882294
nsv466007 CNV Loss 19166990
nsv519816 CNV Loss 19592680
nsv891751 CNV Loss 21882294
dgv7941n71 CNV Loss 21882294
nsv6441 CNV Insertion 18451855
dgv7942n71 CNV Loss 21882294
nsv824778 CNV Gain 20364138
nsv891764 CNV Loss 21882294
nsv824779 CNV Gain 20364138
esv22609 CNV Loss 19812545

Variation tolerance for FAM83H Gene

Residual Variation Intolerance Score: 64.07% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.37; 81.66% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FAM83H Gene

HapMap Linkage Disequilibrium report
FAM83H
Human Gene Mutation Database (HGMD)
FAM83H

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM83H Gene

Disorders for FAM83H Gene

MalaCards: The human disease database

(10) MalaCards diseases for FAM83H Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hypocalcified amelogenesis imperfecta
  • amelogenesis imperfecta type 3
amelogenesis imperfecta, type iii
  • amelogenesis imperfecta, type 3
adult medulloblastoma
  • medulloblastoma, adult
aniseikonia
amelogenesis imperfecta
  • aortic valve insufficiency
- elite association

UniProtKB/Swiss-Prot

FA83H_HUMAN
  • Amelogenesis imperfecta 3 (AI3) [MIM:130900]: An autosomal dominant hypomineralized form of amelogenesis imperfecta, a defect of enamel formation. AI3 is characterized by enamel of normal thickness but soft and with cheesy consistency. Enamel is lost from tooth soon after eruption. {ECO:0000269 PubMed:18252228}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for FAM83H

Genetic Association Database (GAD)
FAM83H
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FAM83H
genes like me logo Genes that share disorders with FAM83H: view

No data available for Genatlas for FAM83H Gene

Publications for FAM83H Gene

  1. FAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfecta. (PMID: 18252228) Kim J.-W. … Simmer J.P. (Am. J. Hum. Genet. 2008) 2 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 67
  3. An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. (PMID: 24275569) Bian Y. … Zou H. (J. Proteomics 2014) 67
  4. A quantitative chaperone interaction network reveals the architecture of cellular protein homeostasis pathways. (PMID: 25036637) Taipale M. … Lindquist S. (Cell 2014) 67
  5. A systems-wide screen identifies substrates of the SCFI^TrCP ubiquitin ligase. (PMID: 25515538) Low T.Y. … Heck A.J. (Sci Signal 2014) 67

Products for FAM83H Gene

Sources for FAM83H Gene

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