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] See more...

Aliases for FAM83H Gene

Aliases for FAM83H Gene

  • Family With Sequence Similarity 83 Member H 2 3 5
  • Protein FAM83H 3 4
  • Family With Sequence Similarity 83, Member H 2
  • FAM83H Variant 1 3
  • FAM83H Variant 2 3
  • Truncated FAM83H 3
  • AI3A 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 Amelogenesis Imperfecta, Type Iiia and Hypocalcified Amelogenesis Imperfecta. An important paralog of this gene is FAM83B.

UniProtKB/Swiss-Prot Summary for FAM83H Gene

  • May play a major role in the structural organization and calcification of developing enamel (PubMed:18252228). May play a role in keratin cytoskeleton disassembly by recruiting CSNK1A1 to keratin filaments. Thereby, it may regulate epithelial cell migration (PubMed:23902688).

Gene Wiki entry for FAM83H Gene

Additional gene information for FAM83H Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FAM83H Gene

Genomics for FAM83H Gene

GeneHancer (GH) Regulatory Elements for FAM83H Gene

Promoters and enhancers for FAM83H 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 FAM83H on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FAM83H

Top Transcription factor binding sites by QIAGEN in the FAM83H gene promoter:
  • Bach2
  • E47
  • HEN1
  • NF-kappaB1
  • p53
  • Pax-5
  • Tal-1
  • USF-1
  • USF1

Genomic Locations for FAM83H Gene

Genomic Locations for FAM83H Gene
chr8:143,723,933-143,738,234
(GRCh38/hg38)
Size:
14,302 bases
Orientation:
Minus strand
chr8:144,806,103-144,815,971
(GRCh37/hg19)
Size:
9,869 bases
Orientation:
Minus strand

Genomic View for FAM83H Gene

Genes around FAM83H on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM83H Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    • Interacts with CSNK1A1; recruits CSNK1A1 to keratin filaments. Interacts with KRT18 and probably other keratins.
    SequenceCaution:
    • Sequence=BAC87207.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

neXtProt entry for FAM83H Gene

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

Gene Families for FAM83H Gene

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

Protein Domains for FAM83H Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FAM83H Gene

GenScript: Design optimal peptide antigens:
  • FAM83H variant 2 (F4ZCG4_HUMAN)
  • FAM83H variant 1 (F4ZCG5_HUMAN)
  • Protein FAM83H (FA83H_HUMAN)

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

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 (PubMed:18252228). May play a role in keratin cytoskeleton disassembly by recruiting CSNK1A1 to keratin filaments. Thereby, it may regulate epithelial cell migration (PubMed:23902688).

Phenotypes From GWAS Catalog for FAM83H Gene

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

Human Phenotype Ontology for FAM83H Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FAM83H Gene

MGI Knock Outs for FAM83H:

Clone Products

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

Localization for FAM83H Gene

Subcellular locations from UniProtKB/Swiss-Prot for FAM83H Gene

Cytoplasm, cytoskeleton. Note=Colocalizes with keratin filaments. {ECO:0000269 PubMed:23902688}.

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 FAM83H gene
Compartment Confidence
cytoskeleton 4
nucleus 3
cytosol 3
plasma membrane 1
extracellular 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for FAM83H Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0045095 colocalizes_with keratin filament IDA 23902688
genes like me logo Genes that share ontologies with FAM83H: view

Pathways & Interactions for FAM83H Gene

PathCards logo

SuperPathways for FAM83H Gene

No Data Available

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

mRNA/cDNA for FAM83H Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

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

No ASD Table

Relevant External Links for FAM83H Gene

GeneLoc Exon Structure for
FAM83H

Expression for FAM83H Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for FAM83H Gene



Protein tissue co-expression partners for FAM83H Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FAM83H

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.

Evidence on tissue expression from TISSUES for FAM83H Gene

  • Liver(4.1)
  • Nervous system(2.7)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FAM83H Gene

Germ Layers:
  • mesoderm
Systems:
  • skeleton
Regions:
Head and neck:
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • skull
  • tooth
genes like me logo Genes that share expression patterns with FAM83H: view

Orthologs for FAM83H Gene

This gene was present in the common ancestor of chordates.

Orthologs for FAM83H Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FAM83H 31 30
  • 97.83 (n)
OneToOne
dog
(Canis familiaris)
Mammalia FAM83H 31 30
  • 85.5 (n)
OneToOne
cow
(Bos Taurus)
Mammalia FAM83H 31 30
  • 84.31 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Fam83h 17 31 30
  • 80.6 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 80 (a)
OneToMany
-- 31
  • 53 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Fam83h 30
  • 79.97 (n)
oppossum
(Monodelphis domestica)
Mammalia FAM83H 31
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves FAM83H 31 30
  • 57.38 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FAM83H 31
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fam83h 30
  • 51.39 (n)
zebrafish
(Danio rerio)
Actinopterygii fam83h 31 30
  • 57.21 (n)
OneToMany
FAM83H (1 of 2) 31
  • 32 (a)
OneToMany
Species where no ortholog for FAM83H 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 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)
Aminode:
Evolutionary constrained regions (ECRs) for FAM83H: view image

Paralogs for FAM83H Gene

Paralogs for FAM83H Gene

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

  • FA83H_HUMAN
  • F4ZCG4_HUMAN
  • F4ZCG5_HUMAN
  • J3KPS2_HUMAN
genes like me logo Genes that share paralogs with FAM83H: view

Variants for FAM83H Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FAM83H Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
689699 Uncertain Significance: Marfanoid habitus and intellectual disability 143,729,022(-) C/T MISSENSE_VARIANT
708489 Benign: not provided 143,727,613(-) G/A SYNONYMOUS_VARIANT
708490 Benign: not provided 143,730,499(-) G/A SYNONYMOUS_VARIANT
717910 Benign: not provided 143,727,380(-) T/A MISSENSE_VARIANT
718450 Likely Benign: not provided 143,727,004(-) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for FAM83H Gene

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

Variant ID Type Subtype PubMed ID
esv22609 CNV loss 19812545
nsv466007 CNV loss 19166990
nsv519816 CNV loss 19592680
nsv612893 CNV loss 21841781
nsv612894 CNV loss 21841781
nsv612895 CNV loss 21841781
nsv6441 CNV insertion 18451855
nsv824778 CNV gain 20364138
nsv824779 CNV gain 20364138
nsv967635 CNV duplication 23825009

Variation tolerance for FAM83H Gene

Residual Variation Intolerance Score: 64.1% 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)

Additional Variant Information for FAM83H Gene

Human Gene Mutation Database (HGMD)
FAM83H
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAM83H

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

Disorders for FAM83H Gene

MalaCards: The human disease database

(8) MalaCards diseases for FAM83H Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
amelogenesis imperfecta, type iiia
  • ai3a
hypocalcified amelogenesis imperfecta
  • amelogenesis imperfecta type 3
amelogenesis imperfecta
  • ai
amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked 2
  • amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked 1
hypercementosis
  • cementation hyperplasia
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

FA83H_HUMAN
  • Amelogenesis imperfecta 3A (AI3A) [MIM:130900]: An autosomal dominant hypomineralized form of amelogenesis imperfecta, a defect of enamel formation. AI3A 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, ECO:0000269 PubMed:26142250}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for 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 JW … Simmer JP (American journal of human genetics 2008) 2 3 4 54
  2. Casein kinase 1 is recruited to nuclear speckles by FAM83H and SON. (PMID: 27681590) Kuga T … Tomonaga T (Scientific reports 2016) 2 3 54
  3. Novel missense mutation of the FAM83H gene causes retention of amelogenin and a mild clinical phenotype of hypocalcified enamel. (PMID: 26142250) Urzúa B … Reyes M (Archives of oral biology 2015) 3 4 54
  4. A novel mechanism of keratin cytoskeleton organization through casein kinase Iα and FAM83H in colorectal cancer. (PMID: 23902688) Kuga T … Tomonaga T (Journal of cell science 2013) 3 4 54
  5. FAM83H is involved in stabilization of β-catenin and progression of osteosarcomas. (PMID: 31215499) Kim KM … Jang KY (Journal of experimental & clinical cancer research : CR 2019) 3 54

Products for FAM83H Gene

Sources for FAM83H Gene