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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

C17orf72 Gene

protein-coding GIFtS: 30
GCID: GC17P062075

chromosome 17 open reading frame 72

Search for C17orf72
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
Chromosome 17 Open Reading Frame 72¹ ²
DKFZp761M2312¹
FLJ11724¹
Uncharacterized Protein C17orf72²

External Ids:	HGNC: 25673¹	Entrez Gene: 92340²	Ensembl: ENSG00000224383⁷	UniProtKB: P0C7W0³

Export aliases for C17orf72 gene to outside databases

Previous GC identifers: GC17U900605 GC17P059430 GC17P057443

(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_000017.10 NC_018928.1 NT_010783.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the C17orf72 gene promoter:
AREB6 c-Rel AML1a p53 Hand1 AP-4 MRF-2 RSRFC4 E47
Other transcription factors

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Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C17orf72

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

Entrez Gene cytogenetic band: 17q23.3 Ensembl cytogenetic band: 17q23.3 HGNC cytogenetic band: 17q23.3

C17orf72 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C17orf72 gene location

GeneLoc information about chromosome 17 GeneLoc Exon Structure

GeneLoc location for GC17P062075: view genomic region (about GC identifiers)

Start:	62,075,711 bp from pter	End:	62,081,664 bp from pter
Size:	5,954 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,
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About This Section

UniProtKB/Swiss-Prot: CQ072_HUMAN, P0C7W0 (See protein sequence)

Recommended Name: Uncharacterized protein C17orf72

Size: 189 amino acids; 20715 Da

Secondary accessions: B3KMP0 B4DZJ9 E9PGL5 J3QKX4

Alternative splicing: 3 isoforms: P0C7W0-1 P0C7W0-2 P0C7W0-3 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for C17orf72: NX_P0C7W0

C17orf72 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (4 alternative transcripts):

NP_001157729.1 NP_001177958.1 NP_001177959.1 NP_001177960.1

ENSEMBL proteins:

ENSP00000463279 ENSP00000464103 ENSP00000462097 ENSP00000396936 ENSP00000400986

ENSP00000462130 ENSP00000461973 ENSP00000437876

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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: P0C7W0

(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 C17orf72

(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

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(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,
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About This Section

REFSEQ mRNAs for C17orf72 gene (4 alternative transcripts):

NM_001164257.1 NM_001191029.1 NM_001191030.1 NM_001191031.1

Unigene Cluster for C17orf72:

Chromosome 17 open reading frame 72

Hs.708161 [show with all ESTs]

Unigene Representative Sequence: AK021786

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

ENST00000577953 ENST00000582540 ENST00000579184 ENST00000425164 ENST00000412177(uc010wpv.2 uc002jdt.4 uc021ubo.1 uc010wpw.2 uc010wpu.2)

ENST00000583891 ENST00000580752 ENST00000582530 ENST00000225760 ENST00000579222

ENST00000539996

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Additional cDNA sequence:

AK021786.1 AK294360.1 AK302960.1 AK304254.1 BC030709.1 BC045676.1

11 DOTS entries:

DT.100775196 DT.455933 DT.101984915 DT.91787627 DT.40271377 DT.121002751 DT.99933901 DT.80101169

DT.95249996 DT.97775460 DT.97846486

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

C17orf72 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ATGGTTTCCG

About this image

C17orf72 expression in embryonic tissues and stem cells

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

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Posterior foregut-like cells (A scalable, suspensi...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See C17orf72 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for C17orf72

SOURCE GeneReport for Unigene cluster: Hs.708161

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In Situ
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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 C17orf72 gene from 1/5 species (see all 5) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
lizard (Anolis carolinensis)	Reptilia	C17orf72⁶	--	36(a)	1 ↔ 1	6(71759811-71764103)

Species with no ortholog for C17orf72

ENSEMBL Gene Tree for C17orf72 (if available)
TreeFam Gene Tree for C17orf72 (if available)

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

(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 17 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs142515885^1,2		--	62073792(+)	`TTTCAC/TATCAA`	4	--	us2k¹		0	--	--	--	--
rs182448978^1,2		--	62073807(+)	`GATATC/TCTATT`	4	--	us2k¹		0	--	--	--	--
rs185890461^1,2		--	62073860(+)	`CATCCC/TCATCA`	4	--	us2k¹		0	--	--	--	--
rs144777462^1,2		--	62073864(+)	`CCCATC/TAGACA`	4	--	us2k¹		0	--	--	--	--
rs114337395^1,2	F,	--	62073908(+)	`CACCCT/CGTTTC`	4	--	us2k¹		1		WA	118
rs191137462^1,2		--	62073913(+)	`TGTTTC/GCCAGG`	4	--	us2k¹		0	--	--	--	--
rs138775916^1,2		--	62073967(+)	`CCCTGA/GGCTTG`	4	--	us2k¹		0	--	--	--	--
rs181185499^1,2		--	62074023(+)	`ACAAGC/GCACCG`	4	--	us2k¹		0	--	--	--	--
rs138602282^1,2		--	62074041(+)	`CCCCC-/TATCAG`	4	--	us2k¹		0	--	--	--	--
rs185625523^1,2		--	62074252(+)	`CCAGCC/TCCTCT`	4	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for C17orf72 (62075711 - 62081664 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for C17orf72: --

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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 C17orf72 gene integrated from 9 sources:
(articles sorted by number of sources associating them with C17orf72)

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

Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
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)
Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)¹ Kimura K.... Sugano S. (2006)
DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PubMed id 16625196)² Zody M.C.... Nusbaum C. (2006)

(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: 92340	HGNC: 25673	Ensembl:ENSG00000224383	euGenes: HUgn92340	ECgene: C17orf72
H-InvDB: C17orf72

(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 C17orf72	Pharmacogenomics, SNPs, Pathways

Intellectual Property for C17orf72 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for C17orf72 gene:
Search GeneIP for patents involving C17orf72

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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C17orf72 Gene

chromosome 17 open reading frame 72

Aliases
for C17orf72 gene

Summaries
for C17orf72 gene

Genomic Views
for C17orf72 gene

Proteins
for C17orf72 gene

Protein Domains /
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for C17orf72 gene

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for C17orf72 gene

Pathways & Interactions
for C17orf72 gene

Drugs & Compounds
for C17orf72 gene

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for C17orf72 gene

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for C17orf72 gene

Orthologs
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C17orf72 Gene

chromosome 17 open reading frame 72

Aliasesfor C17orf72 gene

Summariesfor C17orf72 gene

Genomic Viewsfor C17orf72 gene

Proteinsfor C17orf72 gene

Protein Domains /Familiesfor C17orf72 gene

Functionfor C17orf72 gene

Pathways & Interactionsfor C17orf72 gene

Drugs & Compoundsfor C17orf72 gene

Transcriptsfor C17orf72 gene

Expression for C17orf72 gene

Orthologsfor C17orf72 gene

Paralogsfor C17orf72 gene

Genomic Variantsfor C17orf72 gene

Disorders / Diseasesfor C17orf72 gene

Publicationsfor C17orf72 gene

External Searches for C17orf72 gene

Genome Databases showing C17orf72 gene

Other Databases showing C17orf72 gene

Specialized Databases showing C17orf72 gene

Intellectual Propertyfor C17orf72 gene

Productsfor C17orf72 gene

View Random Gene

Aliases
for C17orf72 gene

Summaries
for C17orf72 gene

Genomic Views
for C17orf72 gene

Proteins
for C17orf72 gene

Protein Domains /
Families
for C17orf72 gene

Function
for C17orf72 gene

Pathways & Interactions
for C17orf72 gene

Drugs & Compounds
for C17orf72 gene

Transcripts
for C17orf72 gene

Expression
for C17orf72 gene

Orthologs
for C17orf72 gene

Paralogs
for C17orf72 gene

Genomic Variants
for C17orf72 gene

Disorders / Diseases
for C17orf72 gene

Publications
for C17orf72 gene

Intellectual Property
for C17orf72 gene

Products
for C17orf72 gene