CHRFAM7A Gene
protein-coding GIFtS: 51
GCID: GC15M030653
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CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons...
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Aliases
for CHRFAM7A gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| CHRNA7 (Cholinergic Receptor, Nicotinic, Alpha 7, Exons 5-10) And FAM7A(Family With Sequence Similarity 7A, Exons A-E) Fusion1 2 | | Alpha 7 Neuronal Nicotinic Acetylcholine Receptor-FAM7A Hybrid2 | | CHRNA7-DR11 2 3 | | Alpha-7 Nicotinic Cholinergic Receptor Subunit2 | | D-101 2 3 | | CHRNA7 (Cholinergic Receptor, Nicotinic, Alpha Polypeptide 7, Exons 5-10) AndFAM7A (Family With Sequence Similarity 7A, Exons A-E) Fusion2 | | CHRNA72 | | CHRNA7-FAM7A Fusion Protein2 |
Export aliases for CHRFAM7A gene to outside databasesPrevious GC identifers: GC15M025924 GC15M023461 GC15M028233 GC15M028369 GC15M028440 |
Summaries
for CHRFAM7A 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 CHRFAM7A:
The nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated ion channels that mediatefast signal transmission at synapses. The family member CHRNA7, which is located on chromosome 15 in a regionassociated with several neuropsychiatric disorders, is partially duplicated and forms a hybrid with a novel gene fromthe family with sequence similarity 7 (FAM7A). Alternative splicing has been observed, and two variants exist, forthis hybrid gene. The N-terminally truncated products predicted by the largest open reading frames for each variantwould lack the majority of the neurotransmitter-gated ion-channel ligand binding domain but retain the transmembraneregion that forms the ion channel. Although current evidence supports transcription of this hybrid gene, translationof the nicotinic acetylcholine receptor-like protein-encoding open reading frames has not been confirmed. (provided byRefSeq, Jul 2008)
 summary
for CHRFAM7A: Alpha7 is a subunit of the neuronal nicotinic receptor that can combine to form homomeric receptors. In
avian tissue alpha7alpha8 heteromers also occur and an association between alpha7 and beta2 subunits has
been suggested in the mammalian brain. The alpha7 nAChR is particularly prominent in the hippocampus, where
it is found on GABAergic interneurons of stratum oriens and stratum radiatum, and on pyramidal neurones.
Presynaptic alpha7 nAChRs are present on glutamate terminals and facilitate transmitter release in various
brain regions, including the hippocampus, cortex and ventral tegmental area. Nicotine acting at alpha7
nAChRs can enhance hippocampal LTP, and alpha7 nAChRs are associated with attentional processes and working
memory. As a consequence, alpha7 nAChRs are a therapeutic target for treating cognitive impairment, notably
in Alzheimer's disease and schizophrenia, and this has prompted the generation of alpha7 nAChR-selective
ligands. The human gene encoding the nicotinic alpha7 receptor subunit has been localized to chromosome 15
(15q13.3).
Gene Wiki entry for CHRFAM7A
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Genomic Views
for CHRFAM7A 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_000015.9 NC_018926.1 NT_010194.17
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the CHRFAM7A gene promoter:
E2F-4 E2F-3a E2F-5 Pbx1a p53 E2F-2 E2F E2F-1 Zic3
Other transcription factors
Search SABiosciences Chromatin IP Primers for CHRFAM7A
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CHRFAM7A |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 15q13.1 Ensembl cytogenetic band: 15q13.2 HGNC cytogenetic band: 15q13.2CHRFAM7A Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 15 GeneLoc Exon Structure GeneLoc location for GC15M030653: view genomic region
(about GC identifiers)
Start:
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30,653,443 bp from pter |
End:
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30,686,052 bp from pter |
Size:
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32,610 bases |
Orientation:
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minus strand |
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Proteins
for CHRFAM7A 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: CRFM7_HUMAN, Q494W8 (See
protein sequence)Recommended Name: CHRNA7-FAM7A fusion protein Size: 412 amino acids; 46218 Da
Subcellular location: Membrane; Multi-pass membrane protein (By similarity)
Caution: This protein is encoded by a hybrid gene consisting of a duplication of exons 5 through 10 of the CHRNA7 genefused 3-prime to a copy of the FAM7A gene (exons A through E). The CHRFAM7A gene is in the opposite orientation to theCHRNA7 gene. It seems not to be represented on every human chromosome 15 and it is not clear whether the transcript isactually translated
Secondary accessions: A8KAB9Explore the universe of human proteins at neXtProt for CHRFAM7A: NX_Q494W8
CHRFAM7A Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_647536.1 NP_683709.1
ENSEMBL proteins: ENSP00000299847 ENSP00000385389 ENSP00000455401 ENSP00000380927
Human Recombinant Protein Products:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0016021 | integral to membrane |
IEA | -- | | GO:0045211 | postsynaptic membrane |
IEA | -- |
CHRFAM7A for ontologies About GeneDecksing
CHRFAM7A Antibody Products:
Assay Products for CHRFAM7A: |
Protein
Domains /
Families
for CHRFAM7A gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
CHRFAM7A for domains About GeneDecksing
4 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q494W8ProtoNet protein and cluster: Q494W8 UniProtKB/Swiss-Prot: CRFM7_HUMAN, Q494W8Similarity: Belongs to the ligand-gated ion channel (TC 1.A.9) family |
Function
for CHRFAM7A 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 CHRFAM7A (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CHRFAM7A (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHRFAM7A |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005230 | extracellular ligand-gated ion channel activity |
IEA | -- |
CHRFAM7A for ontologies About GeneDecksing
|
Pathways & Interactions
for CHRFAM7A 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
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | SIDS Susceptibility Pathways | |
1  BioSystems Pathway for CHRFAM7A
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CHRFAM7A
|
Drugs & Compounds
for CHRFAM7A 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
|
Compounds for CHRFAM7A available from Tocris Bioscience About this table
4 DrugBank Compounds for CHRFAM7A About this table
Search CenterWatch for drugs/clinical trials and news about CHRFAM7A / CRFM7
|
Transcripts
for CHRFAM7A 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 CHRFAM7A gene (2 alternative transcripts): NM_139320.1 NM_148911.1 Unigene Cluster for CHRFAM7A: CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion Hs.510853 [show with all ESTs]Unigene Representative Sequence: NM_1393207 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000299847 ENST00000401522 ENST00000562729 ENST00000567722 ENST00000569278
ENST00000570098 ENST00000397827(uc001zdt.1 uc001zdu.1 uc010azn.2)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CHRFAM7A (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CHRFAM7A (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
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Additional cDNA sequence: AF029838.1 AF029839.1 AF036903.1 AF037646.1 AK292984.1 BC101345.1 BC101346.2 BC101347.2 BC101348.2 12 DOTS entries: DT.100025592 DT.100778391 DT.100778392 DT.121031753 DT.121033464 DT.102842464 DT.91679005 DT.92059623 DT.100778393 DT.121031746 DT.121033553 DT.97837952 24/71 AceView cDNA sequences (see all 71): BX422848 BU680930 AA897701 AA639641 BF507825 BC037571 BI963064 BX090309 AA301331 CR620753 CR608436 AI791902 NM_000746 BM451308 CR605947 AI208142 CR594008 BX282644 BU149265 CB160887 BX344807 BI917899 AL519942 U62436
GeneLoc Exon Structure
|
Expression
for CHRFAM7A 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
| CHRFAM7A expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CACTGGAGTT
About this image
See CHRFAM7A Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CHRFAM7A
SOURCE GeneReport for Unigene cluster: Hs.510853
UniProtKB/Swiss-Prot: CRFM7_HUMAN, Q494W8Tissue specificity: Expressed in hippocampus
SABiosciences Custom PCR Arrays for CHRFAM7A
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CHRFAM7A
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse / rat CHRFAM7A | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CHRFAM7A | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CHRFAM7A | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHRFAM7A |
Orthologs
for CHRFAM7A 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 CHRFAM7A gene from 4/10 species (see all 10) About this table
ENSEMBL Gene Tree for CHRFAM7A (if available)
TreeFam Gene Tree for CHRFAM7A (if available) |
Paralogs
for CHRFAM7A gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for CHRFAM7A gene
- CHRNA52 CHRNA22 CHRNA12 CHRNA62 CHRNA72 CHRNE2 CHRNB42 CHRNA42
- CHRNA102 CHRNA92 CHRNB22 CHRNG2 CHRNA32 CHRNB32 CHRNB12 CHRND2
15 SIMAP similar genes for CHRFAM7A using alignment to 3 protein entries: CRFM7_HUMAN (see all proteins):CHRNA7 CHRNA7-2 CHRNA6 CHRNA9 CHRNA2 CHRNB4
CHRNA4 CHRNA3 CHRNB2 CHRNA1 CHRNB1 CHRNA10
HTR3A CHRND CHRNA5
CHRFAM7A for paralogs About GeneDecksing
|
Genomic Variants
for CHRFAM7A 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 15 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for CHRFAM7A (30653443 - 30686052 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 20 variations for CHRFAM7A
15/20 CNVs (see all 20): 87571 2186 3955 3074 66758 76886 76887 32014 9262 87574 4886 66759 76888 87573 37842
Human Gene Mutation Database (HGMD): CHRFAM7A
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CHRFAM7A |
|
Disorders
/ Diseases
for CHRFAM7A 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
|
CHRFAM7A for disorders About GeneDecksing
OMIM gene information: 609756
OMIM disorders: --
9  diseases for CHRFAM7A: About MalaCardsneuronitis alzheimer's disease juvenile myoclonic epilepsy schizophrenia
bipolar affective disorder schizoaffective disorder bipolar disorder pharyngitis
dementia
1 disease from the University of Copenhagen DISEASES database for CHRFAM7A:Schizophrenia Human Genome Epidemiology (HuGE) Navigator: CHRFAM7A (8 documents)
Export disorders for CHRFAM7A gene to outside databases
|
Publications
for CHRFAM7A 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 CHRFAM7A gene, integrated from 9 sources (see all 24):
(articles sorted by number of sources associating them with CHRFAM7A) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Analysis of the DNA sequence and duplication history of human chromosome 15. (PubMed id 16572171)1, 2 Zody M.C....Nusbaum C. (2006)
- 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)
- A 3-Mb map of a large segmental duplication overlapping the alpha7- nicotinic acetylcholine receptor gene (CHRNA7) at human 15q13-q14. (PubMed id 11829490)1, 3 Riley B.... Makoff A. (2002)
- Genomic organization and partial duplication of the human alpha7 neuronal nicotinic acetylcholine receptor gene (CHRNA7). (PubMed id 9782083)1, 2 Gault J.... Leonard S. (1998)
- A 2-base pair deletion polymorphism in the partial du plication of the alpha7 nicotinic acetylcholine gene (CHRFAM7A) on chromosome 1 5q14 is associated with schizophrenia. (PubMed id 19631623)1, 9 Sinkus M.L....Leonard S. (2009)
- CHRFAM7A copy number and 2-bp deletion polymorphisms and antisaccade performance. (PubMed id 19149910)1, 9 Petrovsky N....Ettinger U. (2009)
- Association study of CHRFAM7A copy number and 2 bp deletion polymorphisms with schizophrenia and bipolar affective disorder. (PubMed id 16823804)1, 9 Flomen R.H....Makoff A.J. (2006)
- Smoking in adult attention-deficit/hyperactivity diso rder: Interaction between 15q13 nicotinic genes and Temperament Character Inven tory scores. (PubMed id 19462340)1, 9 Manchia M....Kennedy J.L. (2009)
- Genetic variations in CHRNA7 or CHRFAM7 and susceptibi lity to dementia. (PubMed id 22300029)1 Neri M....Russo P. (2012)
- Expression of the I+7 nAChR subunit duplicate form (CH RFAM7A) is down-regulated in the monocytic cell line THP-1 on treatment with LP S. (PubMed id 20926142)1 Benfante R....Fornasari D. (2011)
|
External Searches for CHRFAM7A gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing CHRFAM7A gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing CHRFAM7A gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing CHRFAM7A 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 CHRFAM7A | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for CHRFAM7A gene:
Search GeneIP for patents involving CHRFAM7A
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for CHRFAM7A 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
|
 | |
 | |
 |
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| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHRFAM7A |
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