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

Summary

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

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_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

[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].
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.
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.
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.
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.
A novel FAM83H variant causes familial amelogenesis imperfecta with incomplete penetrance.
Title: A novel FAM83H variant causes familial amelogenesis imperfecta with incomplete penetrance.
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.
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.
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.
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

D8S2279 (e-PCR)
- UniSTS:473907

RH46910 (e-PCR)
- UniSTS:28403

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

NG_016652.2 RefSeqGene

Range

5000..14846

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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)