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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CHN1 Gene

protein-coding GIFtS: 65
GCID: GC02M175664

chimerin 1

(Previous names: Duane retraction syndrome 2, chimerin (chimaerin) 1 )
(Previous symbols: CHN, DURS2)

Explore 9 diseases affiliated with
CHN1 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

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Chimerin 1¹ ²		RHOGAP2² ⁵
ARHGAP2¹ ² ³ ⁵		RhoGAP2¹
CHN¹ ² ³ ⁵		Duane Retraction Syndrome 2¹
DURS2¹ ² ⁵		N-Chimaerin¹
Chimerin (Chimaerin) 1¹ ²		A2-Chimaerin¹
N-Chimerin¹		Alpha-Chimerin¹
A-Chimaerin¹		Chimaerin 1²
NC² ³		Alpha-Chimerin¹
Rho GTPase-Activating Protein 2² ³		N-Chimerin¹

External Ids:	HGNC: 1943¹	Entrez Gene: 1123²	Ensembl: ENSG00000128656⁷	OMIM: 118423⁵	UniProtKB: P15882³

ORGUL members:
	NONCODE:n410723

Export aliases for CHN1 gene to outside databases

Previous GC identifers: GC02M173716 GC02M174325 GC02M175628 GC02M175866 GC02M175489 GC02M175372 GC02M167544

(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 CHN1:

This gene encodes GTPase-activating protein for ras-related p21-rac and a phorbol ester receptor. It is predominantly

expressed in neurons, and plays an important role in neuronal signal-transduction mechanisms. Mutations in this gene

are associated with Duane's retraction syndrome 2 (DURS2). Alternatively spliced transcript variants encoding

different isoforms have been described for this gene. (provided by RefSeq, Apr 2011)

UniProtKB/Swiss-Prot: CHIN_HUMAN, P15882

Function: GTPase-activating protein for p21-rac and a phorbol ester receptor. Involved in the assembly of neuronal

locomotor circuits as a direct effector of EPHA4 in axon guidance

(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_000002.11 NC_018913.1 NT_005403.17

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CHN1 gene promoter:
AML1a CUTL1 POU6F1 (c2) POU3F2 NF-AT POU2F1 POU2F1a c-Myb NF-AT1 Hlf
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): CHN1 promoter sequence

Search SABiosciences Chromatin IP Primers for CHN1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CHN1

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

Entrez Gene cytogenetic band: 2q31.1 Ensembl cytogenetic band: 2q31.1 HGNC cytogenetic band: 2q31-q32.1

CHN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CHN1 gene location

GeneLoc information about chromosome 2 GeneLoc Exon Structure

GeneLoc location for GC02M175664: view genomic region (about GC identifiers)

Start:	175,664,042 bp from pter	End:	175,870,170 bp from pter
Size:	206,129 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: CHIN_HUMAN, P15882 (See protein sequence)

Recommended Name: N-chimaerin

Size: 459 amino acids; 53172 Da

Subunit: Interacts with EPHA4; effector of EPHA4 in axon guidance linking EPHA4 activation to RAC1 regulation (By

similarity)

Developmental stage: Increases in amount during brain development coincident with synaptogenesis

Sequence caution: Sequence=CAA35769.1; Type=Erroneous initiation;

2 PDB 3D structures from and Proteopedia for CHN1:

2OSA (3D)

3CXL (3D)

Secondary accessions: A8K1M6 B3KNU6 B4DV19 Q53SD6 Q53SH5 Q96FB0

Alternative splicing: 3 isoforms: P15882-1 P15882-2 P15882-3 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CHN1: NX_P15882

Post-translational modifications:

Phosphorylated. Phosphorylation is EPHA4 kinase activity-dependent (By similarity)¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P15882

CHN1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (3 alternative transcripts):

NP_001020372.2 NP_001193531.1 NP_001813.1

ENSEMBL proteins:

ENSP00000386741 ENSP00000295497 ENSP00000386469 ENSP00000386470 ENSP00000386322

ENSP00000411911 ENSP00000410496 ENSP00000409798 ENSP00000405270 ENSP00000392603

ENSP00000416316

Reactome Protein details: P15882
Human Recombinant Protein Products:

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	Novus Biologicals CHN1 Proteins Novus Biologicals CHN1 Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for CHN1

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:0005622	intracellular	--	--
GO:0005829	cytosol	TAS	--

CHN1 for ontologies About GeneDecksing

CHN1 Antibody Products:

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Assay Products for CHN1:

	Browse Kits and Assays available from EMD Millipore
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	GenScript Custom Assay Services for CHN1
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for CHN1

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

CHN1 for domains About GeneDecksing

5/6 InterPro domains/families (see all 6):

IPR020454 DAG/PE-bd

IPR008936 Rho_GTPase_activation_prot

IPR002219 Prot_Kinase_C-like_PE/DAG-bd

IPR000980 SH2

IPR017356 N-chimaerin

Graphical View of Domain Structure for InterPro Entry P15882

ProtoNet protein and cluster: P15882

3 Blocks protein families:

IPB000198 RhoGAP domain

IPB000980 SH2 domain signature

IPB002219 Protein kinase C

UniProtKB/Swiss-Prot: CHIN_HUMAN, P15882

Similarity: Contains 1 phorbol-ester/DAG-type zinc finger

Similarity: Contains 1 Rho-GAP domain

Similarity: Contains 1 SH2 domain

(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

Function Summary:

UniProtKB/Swiss-Prot: CHIN_HUMAN, P15882

Function: GTPase-activating protein for p21-rac and a phorbol ester receptor. Involved in the assembly of neuronal

locomotor circuits as a direct effector of EPHA4 in axon guidance

Genatlas biochemistry entry for CHN1:

n-chimerin,brain GTPase activating protein for the ras-related p21rac,with two alternatively spliced isoforms,alpha

1,alpha 2,45kDa,expressed in cerebellum

miRNA Products:		OriGene 3'-UTR Clone (see all 2): CHN1 Browse MicroRNA Expression Plasmids
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		hsa-miR-205 hsa-miR-3607-3p hsa-miR-452*
		SwitchGear 3'UTR luciferase reporter plasmid: CHN1 3' UTR sequence

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Gene Editing
Products:

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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for CHN1
		Search LifeMap BioReagents cell lines for CHN1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHN1

Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005070	SH3/SH2 adaptor activity	TAS	8336731
GO:0005096	GTPase activator activity	IEA	--
GO:0005515	protein binding	--	--
GO:0046872	metal ion binding	IEA	--
GO:0046875	ephrin receptor binding	IEA	--

CHN1 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for CHN1:

Synthetic lethal with Ras

Animal Models:
Mouse knock-outs for CHN1: Chn1^tm1.1Ito Chn1^tm1.1Abet
5 MGI mutant phenotypes (inferred from 5 alleles) (MGI details for Chn1):

behavior/neurological

cellular

growth/size

muscle

nervous system

CHN1 for phenotypes About GeneDecksing

(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 - 5/6 super-pathways (see all 6) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Cell death signalling via NRAGE, NRIF and NADE

Rho GTPase cycle

0.25

Signaling by Rho GTPases

0.25

G12-G13 in Cellular Signaling

G12-G13 in Cellular Signaling

1.00

Regulation of RAC1 activity

Regulation of RAC1 activity

1.00

Signaling by GPCR

Signal Transduction

0.56

Actin Nucleation by ARP-WASP Complex

RhoA Pathway

0.35

Pathway sources
See GeneCards unified pathways
Show all pathways

3 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CHN1

	RhoA Pathway
	G12-G13 in Cellular Signaling
	RhoGDI Pathway

1 BioSystems Pathway for CHN1

Regulation of RAC1 activity

3 Reactome Pathways for CHN1

	Signaling by Rho GTPases
	Signal Transduction
	Rho GTPase cycle

CHN1 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for CHN1

STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

5/18 Interacting proteins for CHN1 (P15882^{2, 3} ENSP00000386741⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 18)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ERBB2	P04626²^,³, ENSP00000269571⁴	MINT-74489 I2D: score=1 STRING: ENSP00000269571
RPS3A	P61247²^,³	MINT-63479 I2D: score=4
MAPK8IP2	Q13387²^,³	MINT-8262440 I2D: score=2
GTF3C1	Q12789²^,³, ENSP00000348510⁴	MINT-63480 I2D: score=5 STRING: ENSP00000348510
ACVR1	Q04771³, ENSP00000263640⁴	I2D: score=2 STRING: ENSP00000263640

About this table

Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007165	signal transduction	--	--
GO:0007264	small GTPase mediated signal transduction	TAS	--
GO:0008045	motor neuron axon guidance	ISS	--
GO:0032314	regulation of Rac GTPase activity	IEA	--
GO:0035556	intracellular signal transduction	--	--

CHN1 for ontologies About GeneDecksing

(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

CHN1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for CHN1

10/843 HMDB Compounds for CHN1 (see all 843) About this table

Compound	Synonyms	CAS #	PubMed Ids
DG(14:0/14:0/0:0)	DAG(14:0/14:0) (see all 9)	--	--
DG(14:0/14:1(9Z)/0:0)	DAG(14:0/14:1) (see all 15)	--	--
DG(14:0/15:0/0:0)	Diacylglycerol(29:0) (see all 9)	--	--
DG(14:0/16:0/0:0)	DAG(30:0) (see all 9)	--	--
DG(14:0/16:1(9Z)/0:0)	DG(30:1) (see all 15)	--	--
DG(14:0/18:0/0:0)	DG(14:0/18:0) (see all 9)	--	--
DG(14:0/18:1(11Z)/0:0)	Diacylglycerol (see all 15)	--	--
DG(14:0/18:1(9Z)/0:0)	1-myristoyl-2-oleoyl-sn-glycerol (see all 15)	--	--
DG(14:0/18:2(9Z,12Z)/0:0)	DAG(14:0/18:2n6) (see all 15)	--	--
DG(14:0/18:3(6Z,9Z,12Z)/0:0)	Diacylglycerol(14:0/18:3n6) (see all 16)	--	--

6 Novoseek chemical compound relationships for CHN1 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
gtp	47.5	1	1903516 (1)
phosphatidylserine	35.2	3	8496137 (1)
phospholipid	29.4	6	1660266 (2), 8496137 (1), 7518459 (1)
cysteine	11.2	7	1660266 (4), 2268301 (1)
zinc	10.2	4	7518459 (2), 1660266 (1)
lipid	0	3	1426585 (1), 7518459 (1)

Search CenterWatch for drugs/clinical trials and news about CHN1 / CHIN

(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 CHN1 gene (3 alternative transcripts):

NM_001025201.3 NM_001206602.1 NM_001822.5

Unigene Cluster for CHN1:

Chimerin 1

Hs.380138 [show with all ESTs]

Unigene Representative Sequence: NM_001822

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

ENST00000409900(uc002uji.3 uc010zeq.2) ENST00000295497(uc002ujg.3)

ENST00000488080(uc002ujj.3) ENST00000409597 ENST00000492964 ENST00000409156

ENST00000409089 ENST00000444394 ENST00000413882 ENST00000443238 ENST00000491801

ENST00000425395 ENST00000485882 ENST00000444573 ENST00000481174 ENST00000490654

ENST00000469597 ENST00000451799

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		3 QIAGEN miScript miRNA Assays for microRNAs that regulate CHN1:
		hsa-miR-205 hsa-miR-3607-3p hsa-miR-452*
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Additional cDNA sequence:

AB209788.1 AK055060.1 AK289941.1 AK300890.1 BC011393.1 CR456864.1 NR_038133.1 X51408.1

Z22641.1

24/30 DOTS entries (see all 30):

DT.100816113 DT.92439287 DT.120968725 DT.102830436 DT.95132179 DT.95231009 DT.100816102 DT.217692

DT.95233368 DT.92400261 DT.87077135 DT.100816111 DT.120968672 DT.120968689 DT.40189105 DT.92439284

DT.100816110 DT.101961990 DT.120968499 DT.120968570 DT.120968582 DT.120968656 DT.120968713 DT.65287537

24/269 AceView cDNA sequences (see all 269):

BX282594 AI204913 BU072388 AI459804 BE464588 AA169303 AA397973 BM728707

CR598099 BU186039 NM_001822 BF197181 CF242854 AI469070 CB117981 BX337307

CR456864 BM674771 CD671735 D45348 AA663772 AW474680 R12535 Z22641

GeneLoc Exon Structure

5/14 Alternative Splicing Database (ASD) splice patterns (SP) for CHN1 (see all 14) About this scheme

ExUns:	1	^	2	^	3	^	4	^	5	^	6a	·	6b	^	7	^	8a	·	8b	^	9a	·	9b	·	9c	^	10	^	11a	·	11b	·	11c	^	12	^	13a	·	13b	^	14	^	15a	·	15b	^	16	^	17a	·	17b	^
SP1:			-								-				-		-		-		-		-		-		-		-						-						-										-
SP2:											-				-						-		-		-		-		-						-						-										-
SP3:																																			-						-										-
SP4:																																									-										-
SP5:																											-		-						-						-										-

ExUns:	18	^	19	^	20	^	21	^	22a	·	22b	·	22c	·	22d
SP1:			-		-
SP2:			-		-
SP3:			-		-
SP4:			-		-
SP5:

ECgene alternative splicing isoforms for CHN1

(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

CHN1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CGTTTATTAA

About this image

CHN1 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: 4 LifeMap Cells

Name

Category

PureStem™ mesenchymal progenitor 4D20.8 (Embryonic Progenitor Cell)

Lateral Plate Mesoderm, Neural Crest

PureStem™ progenitor EN13 (Embryonic Progenitor Cell)

PureStem™ progenitor EN27 (Embryonic Progenitor Cell)

PureStem™ progenitor EN7 (Embryonic Progenitor Cell)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See CHN1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CHN1

SOURCE GeneReport for Unigene cluster: Hs.380138

UniProtKB/Swiss-Prot: CHIN_HUMAN, P15882

Tissue specificity: In neurons in brain regions that are involved in learning and memory processes

SABiosciences Custom PCR Arrays for CHN1

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHN1

(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 CHN1 gene from 6/21 species (see all 21) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	CHN1¹	chimerin (chimaerin) 1	86.2(n) 94.99(a)		429021 NM_001012952.1 NP_001012970.1
lizard (Anolis carolinensis)	Reptilia	CHN1⁶	--	83(a)	1 ↔ 1	GL343377.1(639649-696375)
African clawed frog (Xenopus laevis)	Amphibia	chn1-prov²	chimerin (chimaerin) 1	80.39(n)		BC056112.1
zebrafish (Danio rerio)	Actinopterygii	wufj59f02²	Danio rerio mRNA similar to chimerin (chimaerin) 1 more	76.82(n)		BC047837.1
fruit fly (Drosophila melanogaster)	Insecta	RhoGAP5A^{1 , 3}	diacylglycerol binding³ CG3208-PA¹	40(a)³ 51.81(n)¹ 44.58(a)¹		5A8³ 31473¹ NM_167040.3¹ NP_727007.1¹
worm (Caenorhabditis elegans)	Secernentea	BE0003N10.2³	--	46(a)		III(1108090-1109028) --

ENSEMBL Gene Tree for CHN1 (if available)
TreeFam Gene Tree for CHN1 (if available)

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

Paralogs for CHN1 gene

HMHA1² ARHGAP21² ARHGAP27² CHN2² ARHGAP10² ARHGAP23² ARHGAP9² ARHGAP29²

ARHGAP26² ARHGAP15² ARHGAP12² OPHN1² ARHGAP42² GMIP²

18/30 SIMAP similar genes for CHN1 using alignment to 11 protein entries: CHIN_HUMAN (see all proteins) (see all similar genes):

CHN2-3 CHN2 OPHN1 ARHGAP27 ARHGAP12 ARHGAP10

ARHGAP24 ARHGAP26 ARHGAP5 ARHGAP15 ARHGAP42 PRKD1

ARHGAP31 ARHGAP35 ABR BCR ARHGAP33 RICS

CHN1 for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for CHN1
PGOHUM00000259962

(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 2 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs4972727^1,2	C,	--	167544638(+)	`GCCCCG/TAGCTG`	4	--	ds500¹		1		NA	2
rs3836201^1,2	C	--	167545043(+)	`AAAAG-/TAAG CTATC`	4	--	ut3¹ nc-transcript-variant		0	--	--	--	--
rs74780149^1,2	F,	--	167545134(+)	`ACCAAT/AAATAA`	4	--	ut3¹ nc-transcript-variant		1		WA	118
rs201795555^1,2	C	--	167545471(+)	`GGCGGG/TGCAGG`	4	--	ut3¹ nc-transcript-variant		0	--	--	--	--
rs75312945^1,2		--	167546953(+)	`CCTGTC/AACCAA`	4	--	int¹		1		EA	120
rs77251464^1,2	C,F,	--	167550393(+)	`AGGACG/AAGGCC`	4	--	int¹		3		NA	124
rs2646154^1,2	C,F,H,	--	167550619(+)	`TCTCCA/GGAACT`	4	--	int¹		12		NS EA NA WA	1446
rs113982296^1,2	C,	--	167550857(+)	`TTTCTA/GTTGTA`	4	--	int¹		2		CSA WA	120
rs75145824^1,2	C,	--	167551502(+)	`GTTCTT/CCTTCC`	4	--	int¹		1		CSA	1
rs78848008^1,2	F,	--	167552103(+)	`AGAGAA/GAAAAA`	4	--	int¹		1		WA	118

HapMap Linkage Disequilibrium report for CHN1 (175664042 - 175870170 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for CHN1: --
Human Gene Mutation Database (HGMD): CHN1

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CHN1

DNA2.0 Custom Variant and Variant Library Synthesis for CHN1

(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

CHN1 for disorders           About GeneDecksing

OMIM gene information: 118423
OMIM disorders: 604356
UniProtKB/Swiss-Prot: CHIN_HUMAN, P15882

Defects in CHN1 are the cause of Duane retraction syndrome type 2 (DURS2) [MIM:604356]. Duane retraction

syndrome is a congenital eye movement disorder characterized by a failure of cranial nerve VI (the abducens nerve) to

develop normally, resulting in restriction or absence of abduction, adduction, or both, and narrowing of the palpebral

fissure and retraction of the globe on attempted adduction. Undiagnosed in children, it can lead to amblyopia, a

permanent uncorrectable loss of vision

9 diseases for CHN1: About MalaCards

duane retraction syndrome neuronitis myotonic dystrophy amblyopia

conduct disorder hyperopia strabismus neuroblastoma

prostatitis

1 disease from the University of Copenhagen DISEASES database for CHN1:

Hyperopia

Human Genome Epidemiology (HuGE) Navigator: CHN1 (2 documents)

Export disorders for CHN1 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 CHN1 gene, integrated from 9 sources (see all 48):
(articles sorted by number of sources associating them with CHN1)

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

Novel human brain cDNA encoding a 34,000 Mr protein n-chimaerin, related to both the regulatory domain of protein kinase C and BCR, the product of the breakpoint cluster region gene. (PubMed id 2299665)^{1, 2, 3, 9} Hall C.... Lim L. (1990)
Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome. (PubMed id 18653847)^{1, 2, 3} Miyake N.... Engle E.C. (2008)
Developmental regulation and neuronal expression of the mRNA of rat n-chimaerin, a p21rac GAP:cDNA sequence. (PubMed id 1445199)^{1, 2, 9} Lim H.H.... Hall C. (1992)
Human brain n-chimaerin cDNA encodes a novel phorbol ester receptor. (PubMed id 2268301)^{1, 2, 9} Ahmed S.... Lim L. (1990)
Alpha 2-chimerin, an SH2-containing GTPase-activating protein for the ras-related protein p21rac derived by alternate splicing of the human n-chimerin gene, is selectively expressed in brain regions and testes. (PubMed id 8336731)^{1, 2, 9} Hall C.... Lim L. (1993)
Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)^{1, 2} Hillier L.W....Wilson R.K. (2005)
Alpha-chimaerin exists in a functional complex with the Cdk5 kinase in brain. (PubMed id 15013773)^{1, 3} Qi R.Z....Wang J.H. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
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)
Promoter region of the transcriptional unit for human alpha 1- chimaerin, a neuron-specific GTPase-activating protein for p21rac. (PubMed id 7867622)^{1, 2} Dong J.M.... Lim L. (1995)

(in PubMed, OMIM, and NCBI Bookshelf)
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		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: 1123	HGNC: 1943	AceView: CHN1	Ensembl:ENSG00000128656	euGenes: HUgn1123
ECgene: CHN1	H-InvDB: CHN1

(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 CHN1	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for CHN1	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for CHN1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for CHN1 gene:
Search GeneIP for patents involving CHN1

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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