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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

FAM221B Gene

protein-coding GIFtS: 34
GCID: GC09M035816

family with sequence similarity 221, member B

(Previous name: chromosome 9 open reading frame 128 )
(Previous symbol: C9orf128)

Explore 1 disease affiliated with
FAM221B via

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 B¹ ²
C9orf128¹ ² ³
Chromosome 9 Open Reading Frame 128¹
Protein FAM221B²
Uncharacterized Protein C9orf128²

External Ids:	HGNC: 30762¹	Entrez Gene: 392307²	Ensembl: ENSG00000204930⁷	UniProtKB: A6H8Z2³

Export aliases for FAM221B 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_000009.11 NC_018920.1 NT_008413.18

Regulatory elements:

Search SABiosciences Regulatory transcription factor binding sites for FAM221B
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: FAM221B promoter sequence

Search SABiosciences Chromatin IP Primers for FAM221B

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FAM221B

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

Entrez Gene cytogenetic band: 9p13.3 Ensembl cytogenetic band: 9p13.3 HGNC cytogenetic band: 9p13.3

FAM221B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FAM221B gene location

GeneLoc information about chromosome 9 GeneLoc Exon Structure

GeneLoc location for GC09M035816: view genomic region (about GC identifiers)

Start:	35,816,388 bp from pter	End:	35,828,744 bp from pter
Size:	12,357 bases	Orientation:	minus 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: F221B_HUMAN, A6H8Z2 (See protein sequence)

Recommended Name: Protein FAM221B

Size: 402 amino acids; 45394 Da

Secondary accessions: Q5TCW2

Alternative splicing: 3 isoforms: A6H8Z2-1 A6H8Z2-2 A6H8Z2-3 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for FAM221B: NX_A6H8Z2

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_A6H8Z2

FAM221B Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_001012448.2

ENSEMBL proteins:

ENSP00000373602 ENSP00000415299 ENSP00000367222 ENSP00000420279

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

ProtoNet protein and cluster: A6H8Z2

UniProtKB/Swiss-Prot: F221B_HUMAN, A6H8Z2

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, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Animal Models:

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In Situ Assay
Products:

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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 FAM221B

(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

Browse Tocris compounds for FAM221B
Search CenterWatch for drugs/clinical trials and news about FAM221B / F221B

(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,
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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 FAM221B gene:

NM_001012446.3

Unigene Cluster for FAM221B:

Family with sequence similarity 221, member B

Hs.128075 [show with all ESTs]

Unigene Representative Sequence: BX648702

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

ENST00000388950(uc010mlc.2 uc003zyj.2 uc011lpg.1) ENST00000423537

ENST00000377984 ENST00000472182

miRNA Products:		OriGene 3'-UTR Clone: FAM221B Browse OriGene MicroRNA Expression Plasmids
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Additional cDNA sequence:

BC144503.1 BC146808.1 BX648702.1 NR_052026.1

1 DOTS entry:

DT.105808

GeneLoc Exon Structure

(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

FAM221B expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGTTTAAAAA

About this image

FAM221B 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)

Limb

Forelimb Myotome

Limb Muscle Progenitor Cells

Skeletal Muscle

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See FAM221B Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for FAM221B

SOURCE GeneReport for Unigene cluster: Hs.128075

SABiosciences Custom PCR Arrays for FAM221B

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM221B

(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 FAM221B gene from 2/15 species (see all 15) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Fam221b^{1 , 5}	RIKEN cDNA 4930412F15 gene⁵ family with sequence similarity 221, member B¹	69.61(n)¹ 58.44(a)¹		4 (23.05 cM)⁵ 242408¹ NM_175517.3¹ NP_780726.1¹ 43659622⁵
lizard (Anolis carolinensis)	Reptilia	C9orf128⁶	--	67(a)	1 ↔ 1	GL344232.1(30202-37050)

ENSEMBL Gene Tree for FAM221B (if available)
TreeFam Gene Tree for FAM221B (if available)

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

Paralogs for FAM221B gene

FAM221A²

FAM221B 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 9 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs78660413^1,2	C	--	35817171(+)	`CCTACA/TCCCAT`	2	--	ut3¹ nc-transcript-variant		0	--	--	--	--
rs75163289^1,2	C	--	35817172(+)	`CTACTC/GCCATA`	2	--	ut3¹ nc-transcript-variant		0	--	--	--	--
rs144206363^1,2		--	35817182(+)	`AAGAAC/GCTATG`	2	--	ut3¹ nc-transcript-variant		0	--	--	--	--
rs146746216^1,2		--	35817270(+)	`TTCACC/TTGCCC`	2	--	nc-transcript-variantut3¹		0	--	--	--	--
rs139434729^1,2		--	35817289(+)	`AAGATC/GTTATG`	2	--	nc-transcript-variantut3¹		0	--	--	--	--
rs181239335^1,2		--	35817342(+)	`CCCCTA/GCGTCT`	2	--	nc-transcript-variantut3¹		0	--	--	--	--
rs77741309^1,2		--	35817343(+)	`CCCTAC/TGTCTG`	2	--	nc-transcript-variantut3¹		1		NA	120
rs184876276^1,2		--	35817422(+)	`GGCATA/CACTTT`	2	--	nc-transcript-variantut3¹		0	--	--	--	--
rs116530512^1,2	F	--	35817509(+)	`GACACC/TCTCAC`	2	--	ut3¹ nc-transcript-variant		1		WA	118
rs190218236^1,2		--	35817544(+)	`ATTCTC/GTGCTT`	2	--	nc-transcript-variantut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for FAM221B (35816388 - 35828744 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for FAM221B: --

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

FAM221B for disorders About GeneDecksing

1 disease for FAM221B: About MalaCards

cartilage-hair hypoplasia

Export disorders for FAM221B 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 FAM221B gene integrated from 9 sources:
(articles sorted by number of sources associating them with FAM221B)

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

The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)² Bechtel S.... Schupp I. (2007)
DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)² Humphray S.J.... Dunham I. (2004)
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)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)¹ Strausberg R.L....Marra M.A. (2002)
Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia. (PubMed id 11207361)¹ Ridanpaa M....de la Chapelle A. (2001)

(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: 392307	HGNC: 30762	Ensembl:ENSG00000204930	euGenes: HUgn392307	ECgene: FAM221B
H-InvDB: FAM221B

(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 FAM221B	Pharmacogenomics, SNPs, Pathways

Intellectual Property for FAM221B gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for FAM221B gene:
Search GeneIP for patents involving FAM221B

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 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section


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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

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FAM221B Gene

family with sequence similarity 221, member B

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for FAM221B gene

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FAM221B Gene

family with sequence similarity 221, member B

Aliasesfor FAM221B gene

Summariesfor FAM221B gene

Genomic Viewsfor FAM221B gene

Proteinsfor FAM221B gene

Protein Domains /Familiesfor FAM221B gene

Functionfor FAM221B gene

Pathways & Interactionsfor FAM221B gene

Drugs & Compoundsfor FAM221B gene

Transcriptsfor FAM221B gene

Expression for FAM221B gene

Orthologsfor FAM221B gene

Paralogsfor FAM221B gene

Genomic Variantsfor FAM221B gene

Disorders / Diseasesfor FAM221B gene

Publicationsfor FAM221B gene

External Searches for FAM221B gene

Genome Databases showing FAM221B gene

Other Databases showing FAM221B gene

Specialized Databases showing FAM221B gene

Intellectual Propertyfor FAM221B gene

Productsfor FAM221B gene

View Random Gene

Aliases
for FAM221B gene

Summaries
for FAM221B gene

Genomic Views
for FAM221B gene

Proteins
for FAM221B gene

Protein Domains /
Families
for FAM221B gene

Function
for FAM221B gene

Pathways & Interactions
for FAM221B gene

Drugs & Compounds
for FAM221B gene

Transcripts
for FAM221B gene

Expression
for FAM221B gene

Orthologs
for FAM221B gene

Paralogs
for FAM221B gene

Genomic Variants
for FAM221B gene

Disorders / Diseases
for FAM221B gene

Publications
for FAM221B gene

Intellectual Property
for FAM221B gene

Products
for FAM221B gene