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Gene: FAM83H (family with sequence similarity 83 member H) Homo sapiens
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Symbol: FAM83H
Name: family with sequence similarity 83 member H
Description: Exhibits keratin filament binding activity and protein kinase binding activity. Involved in intermediate filament cytoskeleton organization; positive regulation of cell migration; and protein localization to cytoskeleton. Colocalizes with the keratin filament. Implicated in amelogenesis imperfecta type 3A.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: AI3; AI3A; FAM83H variant 1; FAM83H variant 2; family with sequence similarity 83, member H; FLJ46072; truncated FAM83H
Orthologs:
Mus musculus (house mouse) : Fam83h (family with sequence similarity 83, member H)  MGI  Alliance
Rattus norvegicus (Norway rat) : Fam83h (family with sequence similarity 83, member H)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Fam83h (family with sequence similarity 83 member H)
Pan paniscus (bonobo/pygmy chimpanzee) : FAM83H (family with sequence similarity 83 member H)
Canis lupus familiaris (dog) : FAM83H (family with sequence similarity 83 member H)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Fam83h (family with sequence similarity 83 member H)
Sus scrofa (pig) : FAM83H (family with sequence similarity 83 member H)
Chlorocebus sabaeus (green monkey) : FAM83H (family with sequence similarity 83 member H)
Heterocephalus glaber (naked mole-rat) : Fam83h (family with sequence similarity 83 member H)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38 Ensembl8143,723,933 - 143,738,234 (-)Ensembl
GRCh388143,723,933 - 143,733,779 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378144,806,103 - 144,822,710 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368144,878,091 - 144,887,902 (-)NCBINCBI36hg18NCBI36
Celera8141,117,065 - 141,123,831 (-)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8140,058,912 - 140,068,831 (-)NCBIHuRef
CHM1_18144,846,146 - 144,855,947 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
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References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
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Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on FAM83H
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 1603342
Created: 2007-04-28
Species: Homo sapiens
Last Modified: 2020-01-07
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.