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    FAM83H family with sequence similarity 83 member H [ Homo sapiens (human) ]

    Gene ID: 286077, updated on 10-Dec-2024

    Summary

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    Official Symbol
    FAM83Hprovided by HGNC
    Official Full Name
    family with sequence similarity 83 member Hprovided by HGNC
    Primary source
    HGNC:HGNC:24797
    See related
    Ensembl:ENSG00000180921 MIM:611927; AllianceGenome:HGNC:24797
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AI3; AI3A
    Summary
    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]
    Expression
    Broad expression in skin (RPKM 7.7), esophagus (RPKM 6.0) and 20 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FAM83H in Genome Data Viewer
    Location:
    8q24.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (143723933..143733779, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (144880370..144890216, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (144806103..144815949, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928160 Neighboring gene coiled-coil domain containing 166 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:144805293-144805794 Neighboring gene mitogen-activated protein kinase 15 Neighboring gene Sharpr-MPRA regulatory region 4007 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:144819935-144820800 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:144822529-144823392 Neighboring gene microRNA 4664 Neighboring gene IQ motif and ankyrin repeat containing 1 Neighboring gene SREBF pathway regulator in golgi 1 pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:144852281-144852954 Neighboring gene scribble planar cell polarity protein Neighboring gene microRNA 937

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Age-related dental phenotypes and tooth characteristics of FAM83H-associated hypocalcified amelogenesis imperfecta. Sriwattanapong K, et al. Oral Dis, 2022 Apr. PMID 33486840
    2. FAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfecta. Kim JW, et al. Am J Hum Genet, 2008 Feb. PMID 18252228, Free PMC Article
    3. Family with Sequence Similarity 83 Member H Promotes the Viability and Metastasis of Cervical Cancer Cells and Indicates a Poor Prognosis. Chen C, et al. Yonsei Med J, 2019 Jul. PMID 31250574, Free PMC Article
    4. A novel FAM83H variant causes familial amelogenesis imperfecta with incomplete penetrance. Bai RQ, et al. Mol Genet Genomic Med, 2022 Apr. PMID 35212465, Free PMC Article
    5. Identification of a novel FAM83H mutation and microhardness of an affected molar in autosomal dominant hypocalcified amelogenesis imperfecta. Hyun HK, et al. Int Endod J, 2009 Nov. PMID 19825039

    See all (101) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. [Analysis of amelogenesis imperfecta with abnormal tooth eruption caused by FAM83H mutation].
      Title: [Analysis of amelogenesis imperfecta with abnormal tooth eruption caused by FAM83H mutation].
    2. Tooth ultrastructure changes induced by a nonsense mutation in the FAM83H gene: insights into the diversity of amelogenesis imperfecta.
      Title: Tooth ultrastructure changes induced by a nonsense mutation in the FAM83H gene: insights into the diversity of amelogenesis imperfecta.
    3. Amelogenesis imperfecta in a Chinese family resulting from a FAM83H variation and the effect of FAM83H on the secretion of enamel matrix proteins.
      Title: Amelogenesis imperfecta in a Chinese family resulting from a FAM83H variation and the effect of FAM83H on the secretion of enamel matrix proteins.
    4. LncRNA FAM83H-AS1 promotes the malignant progression of pancreatic ductal adenocarcinoma by stabilizing FAM83H mRNA to protect beta-catenin from degradation.
      Title: LncRNA FAM83H-AS1 promotes the malignant progression of pancreatic ductal adenocarcinoma by stabilizing FAM83H mRNA to protect β-catenin from degradation.
    5. Role of lncRNA FAM83H antisense RNA1 (FAM83H-AS1) in the progression of non-small cell lung cancer by regulating the miR-545-3p/heparan sulfate 6-O-sulfotransferase (HS6ST2) axis.
      Title: Role of lncRNA FAM83H antisense RNA1 (FAM83H-AS1) in the progression of non-small cell lung cancer by regulating the miR-545-3p/heparan sulfate 6-O-sulfotransferase (HS6ST2) axis.
    6. A novel FAM83H variant causes familial amelogenesis imperfecta with incomplete penetrance.
      Title: A novel FAM83H variant causes familial amelogenesis imperfecta with incomplete penetrance.
    7. Age-related dental phenotypes and tooth characteristics of FAM83H-associated hypocalcified amelogenesis imperfecta.
      Title: Age-related dental phenotypes and tooth characteristics of FAM83H-associated hypocalcified amelogenesis imperfecta.
    8. Loss of FAM83H promotes cell migration and invasion in cutaneous squamous cell carcinoma via impaired keratin distribution.
      Title: Loss of FAM83H promotes cell migration and invasion in cutaneous squamous cell carcinoma via impaired keratin distribution.
    9. Promoting roles of long non-coding RNA FAM83H-AS1 in bladder cancer growth, metastasis, and angiogenesis through the c-Myc-mediated ULK3 upregulation.
      Title: Promoting roles of long non-coding RNA FAM83H-AS1 in bladder cancer growth, metastasis, and angiogenesis through the c-Myc-mediated ULK3 upregulation.
    10. Long non-coding RNA FAM83H-AS1 acts as a potential oncogenic driver in human ovarian cancer.
      Title: Long non-coding RNA FAM83H-AS1 acts as a potential oncogenic driver in human ovarian cancer.
    Submit: New GeneRIF Correction See all GeneRIFs (40)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Amelogenesis imperfecta, hypocalcification type
    MedGen: C0399376 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ46072

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables keratin filament binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables keratin filament binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein kinase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in biomineral tissue development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in intermediate filament cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in intermediate filament cytoskeleton organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of cell migration IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of cell migration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein localization to cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein localization to cytoskeleton IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    colocalizes_with keratin filament IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    colocalizes_with keratin filament IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    protein FAM83H

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_016652.2 RefSeqGene

      Range
      5000..14846
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_198488.5 → NP_940890.4  protein FAM83H

      Status: REVIEWED

      Source sequence(s)
      AC105219
      Consensus CDS
      CCDS6410.2
      UniProtKB/Swiss-Prot
      A0JLS2, Q6ZRV2, Q8N4W0
      UniProtKB/TrEMBL
      A0A494C1T9
      Related
      ENSP00000373565.3, ENST00000388913.4
      Conserved Domains (2) summary
      cd09188
      Location:17 → 281
      PLDc_FAM83H_N; N-terminal phospholipase D-like domain of the uncharacterized protein, Family with sequence similarity 83H
      pfam15251
      Location:895 → 1034
      DUF4588; Domain of unknown function (DUF4588)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      143723933..143733779 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187571.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      200980..210826 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      144880370..144890216 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6ZRV2.3 GenPept UniProtKB/Swiss-Prot:Q6ZRV2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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