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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

FAM83F Gene

protein-coding GIFtS: 45
GCID: GC22P040390

family with sequence similarity 83, member F

Search for FAM83F
in

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Family With Sequence Similarity 83, Member F¹ ²
Protein FAM83F²

External Ids:	HGNC: 25148¹	Entrez Gene: 113828²	Ensembl: ENSG00000133477⁷	UniProtKB: Q8NEG4³

Export aliases for FAM83F gene to outside databases

Previous GC identifers: GC22P038716 GC22P023353

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000022.10 NC_018933.1 NT_011520.12

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the FAM83F gene promoter:
Pax-5 SREBP-1c RelA NF-kappaB SREBP-1b SREBP-1a POU2F1 POU2F1a NF-kappaB1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): FAM83F promoter sequence

Search SABiosciences Chromatin IP Primers for FAM83F

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FAM83F

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 22q13.1 Ensembl cytogenetic band: 22q13.1 HGNC cytogenetic band: 22q13.1

FAM83F Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FAM83F gene location

GeneLoc information about chromosome 22 GeneLoc Exon Structure

GeneLoc location for GC22P040390: view genomic region (about GC identifiers)

Start:	40,390,953 bp from pter	End:	40,426,043 bp from pter
Size:	35,091 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: FA83F_HUMAN, Q8NEG4 (See protein sequence)

Recommended Name: Protein FAM83F

Size: 500 amino acids; 55486 Da

Secondary accessions: Q96FD6

Alternative splicing: 2 isoforms: Q8NEG4-1 Q8NEG4-2 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for FAM83F: NX_Q8NEG4

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q8NEG4

FAM83F Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_612444.2

ENSEMBL proteins:

ENSP00000330432

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

FAM83F for domains About GeneDecksing

1 InterPro domain/family:

IPR012461 DUF1669

Graphical View of Domain Structure for InterPro Entry Q8NEG4

ProtoNet protein and cluster: Q8NEG4

1 Blocks protein family: IPB012461 Protein of unknown function DUF1669

UniProtKB/Swiss-Prot: FA83F_HUMAN, Q8NEG4

Similarity: Belongs to the FAM83 family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

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In Situ Assay
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(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for FAM83F

STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

3 Interacting proteins for FAM83F (Q8NEG4³ ENSP00000330432⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
MME	P08473³	I2D: score=2
ELAVL1	ENSP00000385269⁴	STRING: ENSP00000385269
UBC	ENSP00000344818⁴	STRING: ENSP00000344818

About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

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Browse Tocris compounds for FAM83F
Search CenterWatch for drugs/clinical trials and news about FAM83F / FA83F

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for FAM83F gene:

NM_138435.2

Unigene Cluster for FAM83F:

Family with sequence similarity 83, member F

Hs.197680 [show with all ESTs]

Unigene Representative Sequence: NM_138435

3 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000333407(uc003ayk.1) ENST00000488874 ENST00000473717

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		hsa-miR-30c hsa-miR-125a-5p hsa-miR-1236 hsa-miR-30d hsa-miR-877* hsa-miR-30a hsa-miR-19b hsa-miR-125b

		SwitchGear 3'UTR luciferase reporter plasmid: FAM83F 3' UTR sequence

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Additional cDNA sequence:

AK311584.1 BC011204.1 BC031099.1

3 DOTS entries:

DT.95363851 DT.40243394 DT.91882910

24/41 AceView cDNA sequences (see all 41):

AW027462 CD636413 AW249047 BC031099 CD244465 BX280234 BI828410 BM841047

BE543311 AW590817 AI654134 BI561068 BM841835 BQ686285 CK819550 CD636415

BI820299 AA995019 BM023450 BE409768 CD636414 NM_138435 BC011204 BF887134

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for FAM83F About this scheme

ExUns:	1a	·	1b	^	2	^	3	^	4	^	5	^	6	^	7	^	8a	·	8b
SP1:
SP2:					-		-		-
SP3:

ECgene alternative splicing isoforms for FAM83F

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

FAM83F expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AAGTGGAAGC

About this image

FAM83F expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Bone

Mandibular Process

Bone

Maxillary Process

Bone

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See FAM83F Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for FAM83F

SOURCE GeneReport for Unigene cluster: Hs.197680

SABiosciences Custom PCR Arrays for FAM83F

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for FAM83F gene from 3/10 species (see all 10) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	FAM83F¹	family with sequence similarity 83, member F	65.56(n) 60.08(a)		770747 XM_001234069.1 XP_001234070.1
lizard (Anolis carolinensis)	Reptilia	FAM83F⁶	--	50(a)	1 ↔ 1	5(25561728-25591694)
zebrafish (Danio rerio)	Actinopterygii	fam83fb⁶ si:dkey-165i8.3⁶	si:dkey-165i8.3	35(a) 31(a)	1 ↔ many 1 ↔ many	6(575542-586930) 3(29620402-29635010)

ENSEMBL Gene Tree for FAM83F (if available)
TreeFam Gene Tree for FAM83F (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for FAM83F gene

FAM83C² FAM83H² FAM83G² FAM83E² FAM83D² FAM83A² FAM83B²

2 SIMAP similar genes for FAM83F using alignment to 1 protein entry: FA83F_HUMAN:

FAM83E FAM83G

FAM83F for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 22 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs2958658^1,2	C,F,A,H,	--	40389007(+)	`TTTATT/GAAAAC`	1	--	us2k¹ tfbs³		21		NS EA WA NA CSA	2346
rs9611240^1,2	C,F,A,	--	40389058(+)	`CAAGGC/TGAGTG`	1	--	us2k¹		2		NA	4
rs192743666^1,2		--	40389089(+)	`AAGACC/TAGCCT`	1	--	us2k¹		0	--	--	--	--
rs3021221^1,2	C,A,H,	--	40389090(+)	`agaccA/Tgcctg`	1	--	us2k¹		2		WA	120
rs28601676^1,2		--	40389147(+)	`GGGCAC/TGGTGG`	1	--	us2k¹		0	--	--	--	--
rs185433632^1,2		--	40389279(+)	`ACTCCA/GTCTCA`	1	--	us2k¹		0	--	--	--	--
rs9611241^1,2	C,F,A,H,	--	40389343(+)	`CTCTCA/GTTACT`	1	--	us2k¹		5		NA WA EA	362
rs189468914^1,2		--	40389376(+)	`TGTCTC/TTCCCA`	1	--	us2k¹		0	--	--	--	--
rs4821921^1,2	C,F,A,,	--	40389638(+)	`AAAAAA/TAATAA`	1	--	us2k¹ trp³		3		EA NA	176
rs67949443^1,2	C,	--	40389641(+)	`AAAAA-/TAATAA`	1	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for FAM83F (40390953 - 40426043 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for FAM83F
1 Indel: 103176

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

FAM83F for disorders About MalaCards

FAM83F for disorders About GeneDecksing

Human Genome Epidemiology (HuGE) Navigator: FAM83F (1 document)

Export disorders for FAM83F gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for FAM83F gene integrated from 9 sources:
(articles sorted by number of sources associating them with FAM83F)

Utopia: connect your pdf to the dynamic
world of online information

Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)^{1, 3} Strausberg R.L....Marra M.A. (2002)
Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)¹ Kim W....Gygi S.P. (2011)
System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)² Rigbolt K.T....Blagoev B. (2011)
Sequential use of transcriptional profiling, expressi on quantitative trait mapping, and gene association implicates MMP20 in human k idney aging. (PubMed id 19834535)¹ Wheeler H.E....Kim S.K. (2009)
Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)¹ Abdelmohsen K....Gorospe M. (2009)
HSP27 and HSP70 interact with CD10 in C4-2 prostate cancer cells. (PubMed id 17342744)¹ Dall'Era M.A....Liu A.Y. (2007)
The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)² Sjoeblom T.... Velculescu V.E. (2006)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)² Gerhard D.S....Malek J. (2004)
The DNA sequence of human chromosome 22. (PubMed id 10591208)² Dunham I....O'Brien K.P. (1999)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 113828	HGNC: 25148	AceView: LOC113828	Ensembl:ENSG00000133477	euGenes: HUgn113828
ECgene: FAM83F	H-InvDB: FAM83F

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for FAM83F	Pharmacogenomics, SNPs, Pathways

Intellectual Property for FAM83F gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for FAM83F gene:
Search GeneIP for patents involving FAM83F

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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About This Section


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GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

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Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes FAM83F gene at Home site.

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FAM83F Gene

family with sequence similarity 83, member F

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Export list of displayed genes

FAM83F Gene

family with sequence similarity 83, member F

Aliasesfor FAM83F gene

Summariesfor FAM83F gene

Genomic Viewsfor FAM83F gene

Proteinsfor FAM83F gene

Protein Domains /Familiesfor FAM83F gene

Functionfor FAM83F gene

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Aliases
for FAM83F gene

Summaries
for FAM83F gene

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for FAM83F gene

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for FAM83F gene

Protein Domains /
Families
for FAM83F gene

Function
for FAM83F gene

Pathways & Interactions
for FAM83F gene

Drugs & Compounds
for FAM83F gene

Transcripts
for FAM83F gene

Expression
for FAM83F gene

Orthologs
for FAM83F gene

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for FAM83F gene

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for FAM83F gene

Disorders / Diseases
for FAM83F gene

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for FAM83F gene

Intellectual Property
for FAM83F gene

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for FAM83F gene