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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

FAM221A Gene

protein-coding GIFtS: 36
GCID: GC07P023720

family with sequence similarity 221, member A

(Previous name: chromosome 7 open reading frame 46 )
(Previous symbol: C7orf46)

Search for FAM221A
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 221, Member A¹ ²		MGC72075¹
C7orf46¹ ² ³		Chromosome 7 Open Reading Frame 46¹
DKFZp686F0810¹		Protein FAM221A²
FLJ45875¹		Uncharacterized Protein C7orf46²

External Ids:	HGNC: 27977¹	Entrez Gene: 340277²	Ensembl: ENSG00000188732⁷	UniProtKB: A4D161³

Export aliases for FAM221A gene to outside databases

(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_000007.13 NC_018918.1 NT_007819.17 NT_079592.2

Regulatory elements:

Search SABiosciences Regulatory transcription factor binding sites for FAM221A
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: FAM221A promoter sequence

Search SABiosciences Chromatin IP Primers for FAM221A

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FAM221A

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

Entrez Gene cytogenetic band: 7p15.3 Ensembl cytogenetic band: 7p15.3 HGNC cytogenetic band: 7p15.3

FAM221A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FAM221A gene location

GeneLoc information about chromosome 7 GeneLoc Exon Structure

GeneLoc location for GC07P023720: view genomic region (about GC identifiers)

Start:	23,719,749 bp from pter	End:	23,742,868 bp from pter
Size:	23,120 bases	Orientation:	plus strand

1 alternative location:

Chr7+,CRA_TCAG 23,771,548-23,794,068

(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: F221A_HUMAN, A4D161 (See protein sequence)

Recommended Name: Protein FAM221A

Size: 298 amino acids; 33083 Da

Sequence caution: Sequence=AAH26000.1; Type=Frameshift; Positions=9; Sequence=AAH42034.1; Type=Frameshift;

Positions=101;

Secondary accessions: Q05CG4 Q4G0Q7 Q6P519

Alternative splicing: 3 isoforms: A4D161-1 A4D161-2 A4D161-3

Explore the universe of human proteins at neXtProt for FAM221A: NX_A4D161

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_A4D161

FAM221A Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (3 alternative transcripts):

NP_001120836.1 NP_001120837.1 NP_954587.2

ENSEMBL proteins:

ENSP00000386927 ENSP00000342576 ENSP00000416525 ENSP00000404551 ENSP00000386900

ENSP00000386631

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

FAM221A for domains About GeneDecksing

1 InterPro domain/family:

IPR026755 Fam221a

Graphical View of Domain Structure for InterPro Entry A4D161

ProtoNet protein and cluster: A4D161

UniProtKB/Swiss-Prot: F221A_HUMAN, A4D161

Similarity: Belongs to the FAM221 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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(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 FAM221A

(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

Browse drugs & compounds from Enzo Life Sciences

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Search CenterWatch for drugs/clinical trials and news about FAM221A / F221A

(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,
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About This Section

REFSEQ mRNAs for FAM221A gene (3 alternative transcripts):

NM_001127364.1 NM_001127365.1 NM_199136.3

Unigene Cluster for FAM221A:

Family with sequence similarity 221, member A

Hs.592178 [show with all ESTs]

Unigene Representative Sequence: NM_199136

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

ENST00000409192 ENST00000344962(uc003swo.4 uc003swq.4 uc003swr.4)

ENST00000429719(uc010kup.3) ENST00000462546(uc003swp.4) ENST00000446234

ENST00000409653 ENST00000409994 ENST00000483090

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Additional cDNA sequence:

BC026000.1 BC042034.1 BC063130.1

8 DOTS entries:

DT.100019933 DT.407049 DT.100661940 DT.100741443 DT.100741444 DT.206203 DT.99954505 DT.101978669

24/74 AceView cDNA sequences (see all 74):

BX106087 BU726583 BX280883 BG654877 BF002530 CK429162 AW243380 BG654678

AW469361 BC063130 BI964087 NM_199136 BX371430 CA867596 AI978711 W32420

BI767875 BQ955580 BF897328 BI964018 BI754337 AW027079 AI355829 BC026000

GeneLoc Exon Structure

5/6 Alternative Splicing Database (ASD) splice patterns (SP) for FAM221A (see all 6) About this scheme

ExUns:	1a	·	1b	·	1c	·	1d	^	2	^	3	^	4	^	5	^	6	^	7a	·	7b	·	7c	^	8a	·	8b	·	8c	^	9
SP1:											-
SP2:											-						-
SP3:									-		-
SP4:									-		-						-
SP5:																											-		-

ECgene alternative splicing isoforms for FAM221A

(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

See probesets specificity/sensitivity at GeneAnnot
CGAP TAG: --

FAM221A expression in embryonic tissues and stem cells

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

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Testis

Seminiferous Tubules

Secondary Spermatocyte

Germ Cells, Male Gametocytes

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See FAM221A Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for FAM221A

SOURCE GeneReport for Unigene cluster: Hs.592178

SABiosciences Custom PCR Arrays for FAM221A

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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 FAM221A gene from 4/19 species (see all 19) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	C2H7orf46¹	chromosome 2 open reading frame, human C7orf46	73.1(n) 76.21(a)		420620 XM_418719.3 XP_418719.1
lizard (Anolis carolinensis)	Reptilia	C7orf46⁶	--	74(a)	1 ↔ 1	6(30657587-30668942)
African clawed frog (Xenopus laevis)	Amphibia	Xl.10621²	Xenopus laevis transcribed sequences	74.63(n)		BX846006.1
zebrafish (Danio rerio)	Actinopterygii	fam221a¹	family with sequence similarity 221, member A	59.78(n) 57.28(a)		541338 NM_001013466.1 NP_001013484.1

ENSEMBL Gene Tree for FAM221A (if available)
TreeFam Gene Tree for FAM221A (if available)

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

Paralogs for FAM221A gene

FAM221B²

14 SIMAP similar genes for FAM221A using alignment to 4 protein entries: F221A_HUMAN (see all proteins):

C12orf23 ATL2 LRRC36 LRTOMT DAPK2 GNPTAB

FAM3A PSD3 CNOT2 C11orf80 MOG QTRT1

THADA BUB1B

FAM221A 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 7 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs189063684^1,2		--	23718012(+)	`TACACA/TTTGGG`	3	--	us2k¹		0	--	--	--	--
rs144507977^1,2		--	23718040(+)	`TTATAC/TCTTTT`	3	--	us2k¹		0	--	--	--	--
rs114310823^1,2	C,	--	23718130(+)	`TTCTAC/GTTTGT`	3	--	us2k¹		0	--	--	--	--
rs181613468^1,2		--	23718186(+)	`GGCCAA/GAAGAG`	3	--	us2k¹		0	--	--	--	--
rs6967744^1,2	C,	--	23718403(+)	`GAATGG/AGGCTG`	3	--	us2k¹		3		CSA WA NA	240
rs117565615^1,2		--	23718412(+)	`TGGGCG/ATGGTG`	3	--	us2k¹		1		EA	120
rs186304899^1,2		--	23718433(+)	`GTAATC/TCCAGC`	3	--	us2k¹		0	--	--	--	--
rs113404453^1,2	C,	--	23718528(+)	`AAAATACAC/- ACACA`	3	--	us2k¹		1		CSA	2
rs138798064^1,2	C,	--	23718528(+)	`AAAAT-/ACACACA`	3	--	us2k¹		0	--	--	--	--
rs58877014^1,2	C,	--	23718723(+)	`GTAAAA/GTGGAC`	3	--	us2k¹		3		WA	122

HapMap Linkage Disequilibrium report for FAM221A (23719749 - 23742868 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for FAM221A: --

SABiosciences Cancer Mutation PCR Assays

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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

(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 FAM221A gene integrated from 9 sources:
(articles sorted by number of sources associating them with FAM221A)

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)
hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)¹ Lamesch P.... Vidal M. (2007)
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)
Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)² Scherer S.W.... Tsui L.-C. (2003)
Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)¹ Bonaldo M.F.... Soares M.B. (1996)

(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: 340277	HGNC: 27977	AceView: MGC72075	Ensembl:ENSG00000188732	euGenes: HUgn340277
ECgene: FAM221A	H-InvDB: FAM221A

(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 FAM221A	Pharmacogenomics, SNPs, Pathways

Intellectual Property for FAM221A gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for FAM221A gene:
Search GeneIP for patents involving FAM221A

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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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM221A

	SwitchGear 3'UTR luciferase reporter plasmids for FAM221A
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FAM221A

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

Hot genes Disease genes FAM221A gene at Home site.

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FAM221A Gene

family with sequence similarity 221, member A

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for FAM221A gene

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Export list of displayed genes

FAM221A Gene

family with sequence similarity 221, member A

Aliasesfor FAM221A gene

Summariesfor FAM221A gene

Genomic Viewsfor FAM221A gene

Proteinsfor FAM221A gene

Protein Domains /Familiesfor FAM221A gene

Functionfor FAM221A gene

Pathways & Interactionsfor FAM221A gene

Drugs & Compoundsfor FAM221A gene

Transcriptsfor FAM221A gene

Expression for FAM221A gene

Orthologsfor FAM221A gene

Paralogsfor FAM221A gene

Genomic Variantsfor FAM221A gene

Disorders / Diseasesfor FAM221A gene

Publicationsfor FAM221A gene

External Searches for FAM221A gene

Genome Databases showing FAM221A gene

Other Databases showing FAM221A gene

Specialized Databases showing FAM221A gene

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Productsfor FAM221A gene

View Random Gene

Aliases
for FAM221A gene

Summaries
for FAM221A gene

Genomic Views
for FAM221A gene

Proteins
for FAM221A gene

Protein Domains /
Families
for FAM221A gene

Function
for FAM221A gene

Pathways & Interactions
for FAM221A gene

Drugs & Compounds
for FAM221A gene

Transcripts
for FAM221A gene

Expression
for FAM221A gene

Orthologs
for FAM221A gene

Paralogs
for FAM221A gene

Genomic Variants
for FAM221A gene

Disorders / Diseases
for FAM221A gene

Publications
for FAM221A gene

Intellectual Property
for FAM221A gene

Products
for FAM221A gene