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

Gene ID: 286077, updated on 11-Apr-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (143723933..143733779, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (144880370..144890216, complement)
105.20220307 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. LncRNA FAM83H-AS1 promotes the malignant progression of pancreatic ductal adenocarcinoma by stabilizing FAM83H mRNA to protect β-catenin from degradation. Zhou M, et al. J Exp Clin Cancer Res, 2022 Sep 29. PMID 36171592, Free PMC Article
  2. 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
  3. Loss of FAM83H promotes cell migration and invasion in cutaneous squamous cell carcinoma via impaired keratin distribution. Tokuchi K, et al. J Dermatol Sci, 2021 Nov. PMID 34657752
  4. Age-related dental phenotypes and tooth characteristics of FAM83H-associated hypocalcified amelogenesis imperfecta. Sriwattanapong K, et al. Oral Dis, 2022 Apr. PMID 33486840
  5. Long non-coding RNA FAM83H-AS1 acts as a potential oncogenic driver in human ovarian cancer. Yuan X, et al. J Ovarian Res, 2021 Jan 7. PMID 33413565, Free PMC Article

See all (92) 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 OMIM: 130900 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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
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_2023_10

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

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