CHN1 chimerin 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CHN1provided by HGNC
Official Full Name: chimerin 1provided by HGNC
Primary source: HGNC:HGNC:1943
See related: Ensembl:ENSG00000128656 MIM:118423; AllianceGenome:HGNC:1943
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: NC; CHN; DURS2; ARHGAP2; RHOGAP2
Summary: 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]
Expression: Biased expression in brain (RPKM 113.6), placenta (RPKM 8.8) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: 2q31.1

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (174798809..175005381, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (175287561..175494136, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (175663537..175870109, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Special clinical features with a novel mutation site of CHN1 gene in a Chinese family with Duane retraction syndrome.
Title: Special clinical features with a novel mutation site of CHN1 gene in a Chinese family with Duane retraction syndrome.
Bioinformatics-based analysis of the association between the A1-chimaerin (CHN1) gene and gastric cancer.
Title: Bioinformatics-based analysis of the association between the A1-chimaerin (CHN1) gene and gastric cancer.
CHN1 promotes epithelial-mesenchymal transition via the Akt/GSK-3beta/Snail pathway in cervical carcinoma.
Title: CHN1 promotes epithelial-mesenchymal transition via the Akt/GSK-3β/Snail pathway in cervical carcinoma.
CHN1 and duane retraction syndrome: Expanding the phenotype to cranial nerves development disease.
Title: CHN1 and duane retraction syndrome: Expanding the phenotype to cranial nerves development disease.
Upregulation of miR-205 induces CHN1 expression, which is associated with the aggressive behaviour of cervical cancer cells and correlated with lymph node metastasis.
Title: Upregulation of miR-205 induces CHN1 expression, which is associated with the aggressive behaviour of cervical cancer cells and correlated with lymph node metastasis.
Identification of a novel CHN1 p.(Phe213Val) variant in a large Han Chinese family with congenital Duane retraction syndrome.
Title: Identification of a novel CHN1 p.(Phe213Val) variant in a large Han Chinese family with congenital Duane retraction syndrome.
The results suggest that chemerin plays an important role in inhibiting the cell proliferation of hepatocellular carcinomas by interfering with cellular iron homeostasis in this type of tumors.
Title: The involvement of iron in chemerin induced cell cycle arrest in human hepatic carcinoma SMMC7721 cells.
CHN1 mutations were identified in 2 bilateral cases and in 1 parent of 1 affected case. One mutation is novel and occurred with additional vertical gaze abnormalities.
Title: CHN1 gene mutation analysis in patients with Duane retraction syndrome.
CHN1 and TNFAIP3 are candidate biomarkers for esophageal squamous cell carcinomas
Title: The Discovery and Validation of Biomarkers for the Diagnosis of Esophageal Squamous Dysplasia and Squamous Cell Carcinoma.
These findings reveal a role for ephrin bidirectional signaling upstream of mutant alpha2-chimaerin in Duane retraction syndrome, which may contribute to the selective vulnerability of abducens motor neurons in this disorder
Title: Mutant α2-chimaerin signals via bidirectional ephrin pathways in Duane retraction syndrome.

Submit: New GeneRIF Correction See all GeneRIFs (26)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Duane retraction syndrome 2 MedGen: C0751083 OMIM: 604356 GeneReviews: Duane Syndrome	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Nef	nef	The yeast two-hybrid screen and the coimmunoprecipitation analysis identify the HIV-1 Nef interacting human protein chimerin 1 (CHN1) in cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH12769 (e-PCR)
- UniSTS:59948

WI-19142 (e-PCR)
- UniSTS:24640

RH65493 (e-PCR)
- UniSTS:87111

RH70825 (e-PCR)
- UniSTS:76129

AFMA304WB1 (e-PCR)
- UniSTS:49311

WI-15872 (e-PCR)
- UniSTS:25253

SHGC-105055 (e-PCR)
- UniSTS:169151

SHGC-12689 (e-PCR)
- UniSTS:3549

D2S2876 (e-PCR)
- UniSTS:27616

D2S2314 (e-PCR)
- UniSTS:55543

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTPase activator activity	IBA Inferred from Biological aspect of Ancestor more info
enables GTPase activator activity	TAS Traceable Author Statement more info
enables ephrin receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in ephrin receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in ephrin receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in motor neuron axon guidance	IBA Inferred from Biological aspect of Ancestor more info
involved_in motor neuron axon guidance	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of GTPase activity	IEA Inferred from Electronic Annotation more info
involved_in regulation of axonogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of small GTPase mediated signal transduction	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info

General protein information

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Preferred Names: N-chimaerin

Names: A-chimaerin; Rho GTPase-activating protein 2; a2-chimaerin; alpha-chimerin; chimaerin 1; chimerin (chimaerin) 1; n-chimerin

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_012642.2 RefSeqGene

Range

5062..211634

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001025201.4 → NP_001020372.2 N-chimaerin isoform 2

See identical proteins and their annotated locations for NP_001020372.2

Status: REVIEWED

Source sequence(s)

AC007435, AC018890, AC020596

Consensus CDS

CCDS46454.1

UniProtKB/TrEMBL

A0A2X0SFY7

Related

ENSP00000386470.3, ENST00000409156.7

Conserved Domains (3) summary

cd10352
Location:42 → 128

SH2_a2chimerin_b2chimerin; Src homology 2 (SH2) domain found in alpha2-chimerin and beta2-chimerin proteins

cd04372
Location:240 → 433

RhoGAP_chimaerin; RhoGAP_chimaerin: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of chimaerins. Chimaerins are a family of phorbolester- and diacylglycerol-responsive GAPs specific for the Rho-like GTPase Rac. Chimaerins exist in two ...

pfam00130
Location:183 → 232

C1_1; Phorbol esters/diacylglycerol binding domain (C1 domain)
NM_001206602.2 → NP_001193531.1 N-chimaerin isoform 3

See identical proteins and their annotated locations for NP_001193531.1

Status: REVIEWED

Source sequence(s)

AC018890

Consensus CDS

CCDS56147.1

UniProtKB/TrEMBL

A0A494C1M7

Related

ENSP00000295497.7, ENST00000295497.13

Conserved Domains (2) summary

cd04372
Location:141 → 334

RhoGAP_chimaerin; RhoGAP_chimaerin: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of chimaerins. Chimaerins are a family of phorbolester- and diacylglycerol-responsive GAPs specific for the Rho-like GTPase Rac. Chimaerins exist in two ...

pfam00130
Location:81 → 133

C1_1; Phorbol esters/diacylglycerol binding domain (C1 domain)
NM_001371513.1 → NP_001358442.1 N-chimaerin isoform 1

Status: REVIEWED

Source sequence(s)

AC007435, AC018890, AC020596

Consensus CDS

CCDS46455.1

UniProtKB/Swiss-Prot

A8K1M6, B3KNU6, B4DV19, P15882, Q53SD6, Q53SH5, Q96FB0

UniProtKB/TrEMBL

A0A2X0SFY7

Conserved Domains (3) summary

cd10352
Location:42 → 128

SH2_a2chimerin_b2chimerin; Src homology 2 (SH2) domain found in alpha2-chimerin and beta2-chimerin proteins

cd04372
Location:266 → 459

RhoGAP_chimaerin; RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of chimaerins. Chimaerins are a family of phorbolester- and diacylglycerol-responsive GAPs specific for the Rho-like GTPase Rac. Chimaerins exist in two alternative splice forms ...

pfam00130
Location:206 → 255

C1_1; Phorbol esters/diacylglycerol binding domain (C1 domain)
NM_001371514.1 → NP_001358443.1 N-chimaerin isoform 4

Status: REVIEWED

Source sequence(s)

AC007435, AC018890, AC020596

UniProtKB/TrEMBL

A0A2X0SFY7

Conserved Domains (3) summary

cd04372
Location:283 → 476

RhoGAP_chimaerin; RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of chimaerins. Chimaerins are a family of phorbolester- and diacylglycerol-responsive GAPs specific for the Rho-like GTPase Rac. Chimaerins exist in two alternative splice forms ...

pfam00130
Location:223 → 272

C1_1; Phorbol esters/diacylglycerol binding domain (C1 domain)

cl15255
Location:67 → 145

SH2; Src homology 2 (SH2) domain
NM_001822.7 → NP_001813.1 N-chimaerin isoform 1

See identical proteins and their annotated locations for NP_001813.1

Status: REVIEWED

Source sequence(s)

AC007435, AC018890, AC020596

Consensus CDS

CCDS46455.1

UniProtKB/Swiss-Prot

A8K1M6, B3KNU6, B4DV19, P15882, Q53SD6, Q53SH5, Q96FB0

UniProtKB/TrEMBL

A0A2X0SFY7

Related

ENSP00000386741.4, ENST00000409900.9

Conserved Domains (3) summary

cd10352
Location:42 → 128

SH2_a2chimerin_b2chimerin; Src homology 2 (SH2) domain found in alpha2-chimerin and beta2-chimerin proteins

cd04372
Location:266 → 459

RhoGAP_chimaerin; RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of chimaerins. Chimaerins are a family of phorbolester- and diacylglycerol-responsive GAPs specific for the Rho-like GTPase Rac. Chimaerins exist in two alternative splice forms ...

pfam00130
Location:206 → 255

C1_1; Phorbol esters/diacylglycerol binding domain (C1 domain)