Human Gene FAM83H (uc003yzk.3) Description and Page Index
  Description: Homo sapiens family with sequence similarity 83, member H (FAM83H), mRNA.
RefSeq Summary (NM_198488): 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]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: ERR3218371.187507.1, SRR9304717.596481.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000388913.4/ ENSP00000373565.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END##
Transcript (Including UTRs)
   Position: hg19 chr8:144,806,103-144,815,914 Size: 9,812 Total Exon Count: 6 Strand: -
Coding Region
   Position: hg19 chr8:144,808,091-144,812,752 Size: 4,662 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr8:144,806,103-144,815,914)mRNA (may differ from genome)Protein (1179 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
OMIMPubMedStanford SOURCETreefamUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Protein FAM83H;
FUNCTION: May play a major role in the structural organization and calcification of developing enamel.
TISSUE SPECIFICITY: Expressed in the tooth follicle.
DISEASE: Defects in FAM83H are the cause of amelogenesis imperfecta type 3 (AI3) [MIM:130900]. AI3 is 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.
SIMILARITY: Belongs to the FAM83 family.
SEQUENCE CAUTION: Sequence=BAC87207.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): FAM83H
CDC HuGE Published Literature: FAM83H
Positive Disease Associations: Glucose
Related Studies:
  1. Glucose
    , , . [PubMed 0]

-  MalaCards Disease Associations
  MalaCards Gene Search: FAM83H
Diseases sorted by gene-association score: amelogenesis imperfecta, type iiia* (1319), hypocalcified amelogenesis imperfecta* (369), amelogenesis imperfecta (26), teeth hard tissue disease (7)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 50.26 RPKM in Esophagus - Mucosa
Total median expression: 272.25 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -35.1069-0.509 Picture PostScript Text
3' UTR -862.121980-0.435 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR012461 - DUF1669

Pfam Domains:
PF07894 - Protein of unknown function (DUF1669)

SCOP Domains:
56024 - Phospholipase D/nuclease

ModBase Predicted Comparative 3D Structure on Q6ZRV2
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
  Protein Sequence   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0019901 protein kinase binding
GO:1990254 keratin filament binding

Biological Process:
GO:0030335 positive regulation of cell migration
GO:0031214 biomineral tissue development
GO:0044380 protein localization to cytoskeleton
GO:0045104 intermediate filament cytoskeleton organization

Cellular Component:
GO:0005737 cytoplasm
GO:0005856 cytoskeleton
GO:0045095 keratin filament

-  Descriptions from all associated GenBank mRNAs
  LF210316 - JP 2014500723-A/17819: Polycomb-Associated Non-Coding RNAs.
AF370424 - Homo sapiens PP2121 mRNA, complete cds.
BC033256 - Homo sapiens family with sequence similarity 83, member H, mRNA (cDNA clone IMAGE:5455669), partial cds.
AK127960 - Homo sapiens cDNA FLJ46072 fis, clone TESTI1000459.
BC007264 - Homo sapiens family with sequence similarity 83, member H, mRNA (cDNA clone IMAGE:3138324), partial cds.
JD116286 - Sequence 97310 from Patent EP1572962.
JD155697 - Sequence 136721 from Patent EP1572962.
JD070611 - Sequence 51635 from Patent EP1572962.
JD289247 - Sequence 270271 from Patent EP1572962.
JD462523 - Sequence 443547 from Patent EP1572962.
JD542126 - Sequence 523150 from Patent EP1572962.
JD199335 - Sequence 180359 from Patent EP1572962.
JD553552 - Sequence 534576 from Patent EP1572962.
JD283010 - Sequence 264034 from Patent EP1572962.
JD183196 - Sequence 164220 from Patent EP1572962.
JD311293 - Sequence 292317 from Patent EP1572962.
JD091777 - Sequence 72801 from Patent EP1572962.
JD338921 - Sequence 319945 from Patent EP1572962.
JD154560 - Sequence 135584 from Patent EP1572962.
JD418397 - Sequence 399421 from Patent EP1572962.
JD374139 - Sequence 355163 from Patent EP1572962.
DQ591843 - Homo sapiens piRNA piR-58955, complete sequence.
JD125303 - Sequence 106327 from Patent EP1572962.
JD531364 - Sequence 512388 from Patent EP1572962.
JD190204 - Sequence 171228 from Patent EP1572962.
JD275925 - Sequence 256949 from Patent EP1572962.
JD138956 - Sequence 119980 from Patent EP1572962.
JD133233 - Sequence 114257 from Patent EP1572962.
JD496916 - Sequence 477940 from Patent EP1572962.
JD274330 - Sequence 255354 from Patent EP1572962.
JD525821 - Sequence 506845 from Patent EP1572962.
JD095630 - Sequence 76654 from Patent EP1572962.
JD148748 - Sequence 129772 from Patent EP1572962.
JD239469 - Sequence 220493 from Patent EP1572962.
JD091437 - Sequence 72461 from Patent EP1572962.
JD345569 - Sequence 326593 from Patent EP1572962.
JD172823 - Sequence 153847 from Patent EP1572962.
JD266086 - Sequence 247110 from Patent EP1572962.
JD564523 - Sequence 545547 from Patent EP1572962.
JD300609 - Sequence 281633 from Patent EP1572962.
JD566847 - Sequence 547871 from Patent EP1572962.
JD196528 - Sequence 177552 from Patent EP1572962.
JD537688 - Sequence 518712 from Patent EP1572962.
JD385225 - Sequence 366249 from Patent EP1572962.
JD413247 - Sequence 394271 from Patent EP1572962.
JD180123 - Sequence 161147 from Patent EP1572962.
JD467027 - Sequence 448051 from Patent EP1572962.
JD400020 - Sequence 381044 from Patent EP1572962.
JD516752 - Sequence 497776 from Patent EP1572962.
JD126013 - Sequence 107037 from Patent EP1572962.
JD159498 - Sequence 140522 from Patent EP1572962.
JD309402 - Sequence 290426 from Patent EP1572962.
JD360103 - Sequence 341127 from Patent EP1572962.
MH518311 - Homo sapiens truncated FAM83H (FAM83H) mRNA, complete cds.
HZ061888 - JP 2015163590-A/1: Therapeutic agent for colorectal cancer.
HZ061890 - JP 2015163590-A/3: Therapeutic agent for colorectal cancer.
HZ061897 - JP 2015163590-A/10: Therapeutic agent for colorectal cancer.
JD057313 - Sequence 38337 from Patent EP1572962.
DQ582831 - Homo sapiens piRNA piR-32943, complete sequence.
JD170597 - Sequence 151621 from Patent EP1572962.
HM481256 - Homo sapiens FAM83H variant 2 (FAM83H) mRNA, complete cds, alternatively spliced.
HM481257 - Homo sapiens FAM83H variant 1 (FAM83H) mRNA, complete cds, alternatively spliced.
MA445893 - JP 2018138019-A/17819: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: A0JLS2, FA83H_HUMAN, NM_198488, NP_940890, Q6ZRV2, Q8N4W0
UCSC ID: uc003yzk.3
RefSeq Accession: NM_198488
Protein: Q6ZRV2 (aka FA83H_HUMAN)
CCDS: CCDS6410.2

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_198488.3
exon count: 6CDS single in 3' UTR: no RNA size: 5604
ORF size: 3540CDS single in intron: no Alignment % ID: 99.95
txCdsPredict score: 6827.00frame shift in genome: no % Coverage: 99.70
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 1
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.