FAM120C Gene
protein-coding GIFtS: 50
GCID: GC0XM054097
|
|
family with sequence similarity 120C(Previous name: chromosome X open reading frame 17 )
(Previous symbol: CXorf17)
| |
Aliases
for FAM120C gene
(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 120C1 2 | | FLJ205061 | | CXorf171 2 3 5 | | Chromosome X Open Reading Frame 171 | | ORF341 2 | | Constitutive Coactivator Of PPAR-Gamma-Like Protein 22 | | Tumor Antigen BJ-HCC-212 3 | | Protein FAM120C3 |
Export aliases for FAM120C gene to outside databasesPrevious GC identifers: GC0XM054111 GC0XM051147 |
Summaries
for FAM120C gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for FAM120C:
This gene encodes a potential transmembrane protein and lies in a region where mutations and deletions have beenassociated with intellectual disability and autism. Alternative splicing results in multiple transcript variants.(provided by RefSeq, Aug 2011)
|
Genomic Views
for FAM120C gene
(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_000023.10 NC_018934.1 NT_011630.14
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the FAM120C gene promoter:
AREB6 ISGF-3 AML1a Cart-1 POU3F2 (N-Oct-5a) POU3F2 (N-Oct-5b) POU3F2 AP-2gamma
Other transcription factors
Search SABiosciences Chromatin IP Primers for FAM120C
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FAM120C |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: Xp11.22 Ensembl cytogenetic band: Xp11.22 HGNC cytogenetic band: Xp11.22FAM120C Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome X GeneLoc Exon Structure GeneLoc location for GC0XM054097: view genomic region
(about GC identifiers)
Start:
|
54,094,757 bp from pter |
End:
|
54,209,714 bp from pter |
Size:
|
114,958 bases |
Orientation:
|
minus strand |
|
Proteins
for FAM120C gene
(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: F120C_HUMAN, Q9NX05 (See
protein sequence)Recommended Name: Constitutive coactivator of PPAR-gamma-like protein 2 Size: 1096 amino acids; 120588 Da
Sequence caution: Sequence=AAM82751.1; Type=Erroneous translation; Note=Wrong choice of frame; Sequence=BAA91219.1;Type=Erroneous translation; Note=Wrong choice of frame;
Secondary accessions: B2RMT7Alternative splicing: 2 isoforms: Q9NX05-1 Q9NX05-2 Explore the universe of human proteins at neXtProt for FAM120C: NX_Q9NX05
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9NX05
FAM120C Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_060318.3 NP_940858.1
ENSEMBL proteins: ENSP00000364324 ENSP00000329896 ENSP00000420718
Human Recombinant Protein Products:
FAM120C Antibody Products:
Assay Products for FAM120C: |
Protein
Domains /
Families
for FAM120C gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
FAM120C for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q9NX05ProtoNet protein and cluster: Q9NX05 UniProtKB/Swiss-Prot: F120C_HUMAN, Q9NX05Similarity: Belongs to the constitutive coactivator of PPAR-gamma family |
Function
for FAM120C gene
(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
|
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FAM120C (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FAM120C (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 2): FAM120C (NM_017848) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for FAM120C | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FAM120C |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM120C |
1 GenomeRNAi human phenotype for FAM120C:
Animal Models:
1 MGI mutant phenotype (inferred from 1 allele ) (MGI details for Fam120c):
FAM120C for phenotypes About GeneDecksing
|
Pathways & Interactions
for FAM120C gene
(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 CentralTM Interacting Genes and Proteins Networks for FAM120C
STRING Interaction
Network Preview (showing 2 interactants - click image to see more details)
3 Interacting proteins for FAM120C (Q9NX053 ENSP000003643244) via UniProtKB, MINT, STRING, and/or I2DAbout this table
|
Drugs & Compounds
for FAM120C gene(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 Tocris compounds for FAM120C
Search CenterWatch for drugs/clinical trials and news about FAM120C / F120C
|
Transcripts
for FAM120C gene(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 FAM120C gene (2 alternative transcripts): NM_017848.4 NM_198456.1 Unigene Cluster for FAM120C: Family with sequence similarity 120C Hs.86045 [show with all ESTs]Unigene Representative Sequence: NM_0178484 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000375180(uc004dsz.4 uc011moh.2) ENST00000328235 ENST00000497680
ENST00000477084(uc004dta.2)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FAM120C (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FAM120C (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 2): FAM120C (NM_017848) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for FAM120C | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FAM120C |
Additional cDNA sequence: AK000513.1 AK125664.1 AY121803.1 AY150025.1 BC016138.1 BC073166.1 BC081532.1 BC136413.1 6 DOTS entries: DT.108972 DT.97827776 DT.91838830 DT.100745509 DT.91676116 DT.121320273 24/25 AceView cDNA sequences (see all 25): BG818956 AK000513 AW025799 BC016138 AA902658 BC073166 AY121803 AI632401 BE552187 BX955671 BE893104 AY150025 BG571624 BC081532 NM_017848 AI355551 BX956082 BX280023 BF110228 BE550094 AV750995 BX500369 BQ721238 BU149850
GeneLoc Exon Structure
3 Alternative Splicing Database (ASD) splice patterns (SP) for FAM120C About this scheme
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 |
|---|
|
| SP1: | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for FAM120C
|
Expression
for FAM120C gene
(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
| FAM120C expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CCTACAGATA
About this image
See FAM120C Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for FAM120C
SOURCE GeneReport for Unigene cluster: Hs.86045
UniProtKB/Swiss-Prot: F120C_HUMAN, Q9NX05Tissue specificity: Expressed at low levels in a number of tissues
SABiosciences Custom PCR Arrays for FAM120C
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for FAM120C
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat FAM120C | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FAM120C | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FAM120C | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM120C |
Orthologs
for FAM120C gene
(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 animals.
Orthologs for FAM120C gene from 3/14 species (see all 14) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
lizard
(Anolis carolinensis) |
Reptilia |
FAM120C6 |
-- |
69(a) |
1 ↔ 1 |
1(205520641-205539311) |
zebrafish
(Danio rerio) |
Actinopterygii |
fam120c1 |
family with sequence similarity 120C |
65.02(n)
66.6(a) |
|
557842 XM_680985.5 XP_686077.3 |
honey bee
(Apis mellifera) |
Insecta |
-- |
-- |
36(a) |
1 → many |
Group8.18(6964-11199) |
ENSEMBL Gene Tree for FAM120C (if available)
TreeFam Gene Tree for FAM120C (if available) |
Paralogs
for FAM120C gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for FAM120C gene
- C9orf1292 FAM120B2 FAM120A2
1 SIMAP similar gene for FAM120C using alignment to 3 protein entries: F120C_HUMAN (see all proteins):FAM120A
FAM120C for paralogs About GeneDecksing
|
Genomic Variants
for FAM120C gene(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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr X pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for FAM120C (54094757 - 54209714 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for FAM120C
1 CNV: 23256
Locus Specific Mutation Databases (LSDB): FAM120C
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing FAM120C |
|
Disorders
/ Diseases
for FAM120C gene
(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
|
FAM120C for disorders About GeneDecksing
OMIM gene information: 300741
OMIM disorders: --
1  disease for FAM120C: About MalaCardsintellectual disability
1 disease from the University of Copenhagen DISEASES database for FAM120C:Kaposi's sarcoma Human Genome Epidemiology (HuGE) Navigator: FAM120C (1 document)
Export disorders for FAM120C gene to outside databases
|
Publications
for FAM120C gene (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 FAM120C gene integrated from 9 sources:
(articles sorted by number of sources associating them with FAM120C) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- The human gene CXorf17 encodes a member of a novel family of putative transmembrane proteins: cDNA cloning and characterization of CXorf17 and its mouse ortholog orf34. (PubMed id 14585507)1, 2, 3, 9 Holden S. and Raymond F.L. (2003)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- Autism-associated familial microdeletion of Xp11.22. (PubMed id 18498374)1 Qiao Y....Lewis M.E. (2008)
- Distinct and overlapping sets of SUMO-1 and SUMO-2 target proteins revealed by quantitative proteomics. (PubMed id 17000644)1 Vertegaal A.C....Lamond A.I. (2006)
- The DNA sequence of the human X chromosome. (PubMed id 15772651)2 Ross M.T.... Bentley D.R. (2005)
- Human ISG15 conjugation targets both IFN-induced and constitutively expressed proteins functioning in diverse cellular pathways. (PubMed id 16009940)1 Zhao C.... Krug R.M. (2005)
- 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)
|
External Searches for FAM120C gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing FAM120C gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing FAM120C gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing FAM120C gene(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 FAM120C | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for FAM120C gene:
Search GeneIP for patents involving FAM120C
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for FAM120C gene(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),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for FAM120C | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FAM120C | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for FAM120C | | | Browse OriGene Protein Over-expression Lysates | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for FAM120C | | Browse 3'-UTR reporter clones for miRNA target validation | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FAM120C | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FAM120C | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for FAM120C | | OriGene Custom Protein Services for FAM120C | | | OriGene Custom Immunoassay Development | | |
| |
 |
 |
| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat FAM120C | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing FAM120C | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FAM120C | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FAM120C | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FAM120C | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FAM120C |
| |
 |  |  |  | |
| | | | Search Tocris compounds for FAM120C |
| |  |  |  |  | | | | |
 |
 |
 |
 | | | FAM120C Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM120C |
|  |  |  | | | | ThermoFisher Antibodies for FAM120C |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FAM120C |
|
|
|
|
