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476 results for chchd2

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Chchd2^CPTI004244

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0261316

Genes: Chchd2 (Dme)

Synonyms: Not Available

Variant Type: insertion

Molecular Consequence: 5_prime_UTR_variant

Diseases: Not Available

Variant Name: Not Available

Symbol: Chchd2 (Dme)

Gene Synonyms: CHCHD2

Genes: Chchd2 (Dme)

Symbol: Chchd2^CPTI004244

Chchd2^G472

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0372235

Genes: Chchd2 (Dme)

Synonyms: Not Available

Variant Type: insertion

Molecular Consequence: 5_prime_UTR_variant

Diseases: Not Available

Variant Name: Not Available

Symbol: Chchd2 (Dme)

Gene Synonyms: CHCHD2

Genes: Chchd2 (Dme)

Symbol: Chchd2^G472

Chchd2^em1Dpn

(Mus musculus)

Allele/Variant

Source: MGI:7532638

Genes: Chchd2 (Mmu)

Synonyms: Not Available

Variant Type: deletion

Molecular Consequence: stop_lost, 3_prime_UTR_variant, splice_donor_variant, splice_acceptor_variant, intron_variant

Diseases: Not Available

Variant Name: Not Available

Symbol: Chchd2 (Mmu)

Genes: Chchd2 (Mmu)

Symbol: Chchd2^em1Dpn

Chchd2^EY05234

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0326925

Genes: Chchd2 (Dme)

Synonyms: Not Available

Variant Type: insertion

Molecular Consequence: 5_prime_UTR_variant

Diseases: Not Available

Variant Name: Not Available

Symbol: Chchd2 (Dme)

Gene Synonyms: CHCHD2

Genes: Chchd2 (Dme)

Symbol: Chchd2^EY05234

Chchd2^8-3

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0361013

Genes: Chchd2 (Dme)

Synonyms: Not Available

Variant Type: deletion

Molecular Consequence: frameshift_variant

Diseases: Not Available

Variant Name: Not Available

Symbol: Chchd2<8-3> (Dme)

Gene Synonyms: CHCHD2

Genes: Chchd2 (Dme)

Symbol: Chchd2^8-3

Chchd2^null

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0326927

Genes: Chchd2 (Dme)

Synonyms: Not Available

Variant Type: deletion

Molecular Consequence: stop_lost, 3_prime_UTR_variant, splice_donor_variant, splice_acceptor_variant, intron_variant

Diseases: frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Parkinson's disease, Parkinson's disease 22

Variant Name: Not Available

Symbol: Chchd2 (Dme)

Gene Synonyms: CHCHD2

Genes: Chchd2 (Dme)

Symbol: Chchd2^null

chchd10

(Danio rerio)

Gene

Name: coiled-coil-helix-coiled-coil-helix domain containing 10

Synonyms: zgc:73308, chchd2

Source: ZFIN:ZDB-GENE-040426-1753

Biotype: protein coding gene

Synonyms: chchd2...chchd2...chchd2

Strict Orthology Symbols: Chchd2

MIX17

(Saccharomyces cerevisiae)

Gene

Name: Mitochondrial Intermembrane space CX(n)C motif protein

Synonyms: MIC17, YMR002W

Source: SGD:S000004604

Biotype: protein coding gene

Automated Gene Synopsis: Orthologous to human CHCHD10 (coiled-coil-helix-coiled-coil-helix domain containing 10); CHCHD2 (coiled-coil-helix-coiled-coil-helix

Strict Orthology Symbols: chchd2

CHCHD10

(Homo sapiens)

Gene

Name: coiled-coil-helix-coiled-coil-helix domain containing 10

Synonyms: N27C7-4, MIX17 homolog A, MGC70831, SMAJ, FTDALS2, IMMD, MIX17A, coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial, C22orf16

Source: HGNC:15559

Biotype: protein coding gene

Strict Orthology Symbols: Chchd2

gpat3

(Xenopus tropicalis)

Gene

Name: glycerol-3-phosphate acyltransferase 3

Synonyms: glycerol-3-phosphate acyltransferase 3, gpat3, agpat9, lpaat-theta, mag1

Source: Xenbase:XB-GENE-993435

Biotype: gene

Automated Gene Synopsis: Orthologous to human CHCHD2 (coiled-coil-helix-coiled-coil-helix domain containing 2).

Strict Orthology Symbols: chchd2

Disease (4)

har-1

(Caenorhabditis elegans)

Gene

Name: HemiAsterlin Resistant 1

Synonyms: C16C10.11, CELE_C16C10.11

Source: WB:WBGene00007630

Biotype: protein coding gene

Strict Orthology Symbols: chchd2

CG31007

(Drosophila melanogaster)

Gene

Name: Not Available

Synonyms: Not Available

Source: FB:FBgn0051007

Biotype: protein coding gene

Strict Orthology Symbols: Chchd2l3...Chchd2

Chchd10

(Rattus norvegicus)

Gene

Name: coiled-coil-helix-coiled-coil-helix domain containing 10

Synonyms: Nur77 downstream gene 2, Ndg2, similar to Nur77 downstream protein 2, MGC105647, coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial, LOC103694872

Source: RGD:1359417

Biotype: protein coding gene

Strict Orthology Symbols: Chchd2

frontotemporal dementia and/or amyotrophic lateral sclerosis 2

Disease

Source: DOID:0060214

Definition: An amyotrophic lateral sclerosis that has_material_basis_in mutation in the CHCHD10 gene on chromosome 22. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis.

Genes: Chchd2 (Mmu)...CHCHD2 (Hsa)...CHCHD2P9 (Hsa)...chchd2 (Dre)...Chchd2 (Dme)

Alleles: Chchd2 (Dme)...Chchd2 (Dme)...Chchd2 (Dme)...Chchd2 (Dme)

Parkinson's disease 22

Disease

Source: DOID:0080504

Definition: A late onset Parkinson's disease that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the coiled-coil-helix-coiled-coil-helix domain containing 2 gene on chromosome 7p11.2.

Genes: Chchd2-ps (Mmu)...Chchd2 (Mmu)...CHCHD2 (Hsa)...chchd2 (Dre)...Chchd2 (Dme)

Alleles: Chchd2 (Dme)...Chchd2 (Dme)

spinal muscular atrophy, Jokela type

Disease

Source: DOID:0081356

Definition: A spinal muscular atrophy that is characterized by adult-onset of muscle cramps and fasciculations affecting the proximal and distal muscles of the upper and lower limbs and that has_material_basis_in heterozygous mutation in the CHCHD10 gene on chromosome 22q11.

Genes: Chchd2 (Mmu)...CHCHD2 (Hsa)...CHCHD2P9 (Hsa)...chchd2 (Dre)...Chchd2 (Dme)

Alleles: Chchd2 (Dme)

positive regulation of mitochondrial ATP synthesis coupled electron transport

Gene Ontology

Source: GO:1905448

Synonyms:

activation of mitochondrial ATP synthesis coupled electron transport
up regulation of mitochondrial ATP synthesis coupled electron transport

Branch: biological process

Genes: Chchd2-ps (Mmu)...Chchd2 (Rno)...Chchd2 (Mmu)...CHCHD2 (Hsa)...Chchd2 (Dme)

Genes Annotated with this GO Term (15)

regulation of generation of precursor metabolites and energy

Gene Ontology

Source: GO:0043467

Synonyms: Not Available

Branch: biological process

Genes: Chchd2-ps (Mmu)...Chchd2 (Rno)...CHCHD2 (Hsa)

Genes Annotated with this GO Term (624)

regulation of cellular response to hypoxia

Gene Ontology

Source: GO:1900037

Synonyms:

regulation of cellular response to hypoxic stress
regulation of cellular response to lowered oxygen tension

Branch: biological process

Genes: Chchd2-ps (Mmu)...Chchd2 (Rno)...Chchd2 (Mmu)...CHCHD2 (Hsa)

Genes Annotated with this GO Term (87)

Chchd10

(Mus musculus)

Gene

Name: coiled-coil-helix-coiled-coil-helix domain containing 10

Synonyms: Nur77 downstream gene 2, expressed sequence AI267078, RIKEN cDNA 1620401E04 gene, 1620401E04Rik, Ndg2, AI267078

Source: MGI:2143558

Biotype: protein coding gene

Strict Orthology Symbols: Chchd2

mg3

(Danio rerio)

Allele/Variant

Source: ZFIN:ZDB-ALT-240613-6

Genes: chchd2 (Dre)

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: Not Available

Variant Name: Not Available

Genes: chchd2 (Dre)

Gene (1)

mg2

(Danio rerio)

Allele/Variant

Source: ZFIN:ZDB-ALT-240613-5

Genes: chchd10 (Dre)

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: Not Available

Variant Name: Not Available

Gene Synonyms: chchd2

Gene (1)

chchd10

(Xenopus tropicalis)

Gene

Name: coiled-coil-helix-coiled-coil-helix domain containing 10

Synonyms: coiled-coil-helix-coiled-coil-helix domain containing 10, n27c7-4, chchd10

Source: Xenbase:XB-GENE-5962008

Biotype: gene

Strict Orthology Symbols: Chchd2

Disease (6)

isolated mitochondrial myopathy

Disease

Source: DOID:0081357

Definition: A mitochondrial myopathy that is characterized by onset of proximal lower limb weakness and exercise intolerance in the first decade of life and that has_material_basis_in heterozygous mutation in the CHCHD10 gene on chromosome 22q11.

Genes: Chchd2 (Dme)

glycerol-3-phosphate O-acyltransferase activity

Gene Ontology

Source: GO:0004366

Synonyms:

3-glycerophosphate acyltransferase activity
ACP:sn-glycerol-3-phosphate acyltransferase activity

Branch: molecular function

Genes: chchd2 (Dre)

Genes Annotated with this GO Term (23)

Mics1

(Drosophila melanogaster)

Gene

Name: Mitochondrial morphology and cristae structure 1

Synonyms: CG1287, dMICS1, mics1, BEST:GH03396

Source: FB:FBgn0037506

Biotype: protein coding gene

Gene Synopsis: It interacts with the protein encoded by Chchd2 and enhances oxidative phosphorylation.

Allele/Variant (22)

Hsap\CHCHD2^P14L.UAS

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0404832

Genes: Not Available

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: frontotemporal dementia and/or amyotrophic lateral sclerosis 2

Variant Name: Not Available

Symbol: Hsap\CHCHD2

Construct Expressed Component: CHCHD2 (Hsa)

Disease (1)

Hsap\CHCHD2^R145Q.UAS

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0326931

Genes: Not Available

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: Not Available

Variant Name: Not Available

Symbol: Hsap\CHCHD2

Construct Expressed Component: CHCHD2 (Hsa)

mitochondrial intermembrane space

Gene Ontology

Source: GO:0005758

Synonyms:

mitochondrial envelope lumen
mitochondrial membrane lumen

Branch: cellular component

Genes: Chchd2 (Dme)...Chchd2-ps (Mmu)...CHCHD2 (Hsa)...Chchd2 (Mmu)...Chchd2 (Rno)

Genes Annotated with this GO Term (446)

mitochondrion organization

Gene Ontology

Source: GO:0007005

Synonyms:

mitochondria organization
mitochondrial biogenesis

Branch: biological process

Genes: Chchd2 (Dme)...chchd2 (Dre)...CHCHD2 (Hsa)...Chchd2 (Mmu)...Chchd2 (Rno)

Genes Annotated with this GO Term (2049)

Hsap\CHCHD2^{Thr61Ile.UAS.Tag:MYC}

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0341822

Genes: Not Available

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: Parkinson's disease 22

Variant Name: Not Available

Symbol: Hsap\CHCHD2

Construct Expressed Component: CHCHD2 (Hsa)

Disease (1)

Hsap\CHCHD2^{Arg145Gln.UAS.Tag:MYC}

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0341823

Genes: Not Available

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: Parkinson's disease 22

Variant Name: Not Available

Symbol: Hsap\CHCHD2

Construct Expressed Component: CHCHD2 (Hsa)

Disease (1)

Hsap\CHCHD2^WT.UAS

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0326929

Genes: Not Available

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: Not Available

Variant Name: Not Available

Symbol: Hsap\CHCHD2

Construct Expressed Component: CHCHD2 (Hsa)

Hsap\CHCHD2^T61I.UAS

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0326930

Genes: Not Available

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: frontotemporal dementia and/or amyotrophic lateral sclerosis 2

Variant Name: Not Available

Symbol: Hsap\CHCHD2

Construct Expressed Component: CHCHD2 (Hsa)

Disease (1)

Hsap\CHCHD2^{Pro2Leu.UAS.Tag:MYC}

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0341821

Genes: Not Available

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: Parkinson's disease 22

Variant Name: Not Available

Symbol: Hsap\CHCHD2

Construct Expressed Component: CHCHD2 (Hsa)

Disease (1)

Hsap\CHCHD2^{WT.UAS.Tag:MYC}

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0341820

Genes: Not Available

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: Parkinson's disease 22

Variant Name: Not Available

Symbol: Hsap\CHCHD2

Construct Expressed Component: CHCHD2 (Hsa)

Disease (1)

cellular response to oxidative stress

Gene Ontology

Source: GO:0034599

Synonyms:

adaptive response to oxidative stress

Branch: biological process

Genes: Chchd2 (Dme)...Chchd2-ps (Mmu)...CHCHD2 (Hsa)...Chchd2 (Mmu)...Chchd2 (Rno)

Genes Annotated with this GO Term (946)

Tg(Prnp-CHCHD2)U144Jaaw

(Mus musculus)

Allele/Variant

Source: MGI:7532878

Genes: Not Available

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: Not Available

Variant Name: Not Available

Symbol: Tg(Prnp-CHCHD2)U144Jaaw

Avic\GFP^{Chchd2-CPTI004244}

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0261247

Genes: Not Available

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: Not Available

Variant Name: Not Available

Symbol: Avic\GFP<Chchd2-CPTI004244>

Tg(Prnp-CHCHD2)U105Jaaw

(Mus musculus)

Allele/Variant

Source: MGI:7532877

Genes: Not Available

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: Not Available

Variant Name: Not Available

Symbol: Tg(Prnp-CHCHD2)U105Jaaw

motor neuron disease

Disease

Source: DOID:231

Definition: A neurodegenerative disease that is located_in the motor neurons.

Genes: Chchd2 (Dme)

DNA-binding transcription factor binding

Gene Ontology

Source: GO:0140297

Synonyms:

activating transcription factor binding
repressing transcription factor binding

Branch: molecular function

Genes: Chchd2-ps (Mmu)...CHCHD2 (Hsa)...Chchd2 (Mmu)...Chchd2 (Rno)

Genes Annotated with this GO Term (1878)

Parkinson's disease

Disease

Source: DOID:14330

Definition: A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.

Genes: Chchd2 (Dme)...Chchd2l3 (Rno)...chchd2 (Dre)...CHCHD2 (Hsa)...Chchd2 (Mmu)

Alleles: Chchd2 (Dme)...Chchd2 (Dme)

sequence-specific DNA binding

Gene Ontology

Source: GO:0043565

Synonyms:

sequence specific DNA binding

Branch: molecular function

Genes: Chchd2-ps (Mmu)...chchd2 (Dre)...CHCHD2 (Hsa)...Chchd2 (Mmu)...Chchd2 (Rno)

Genes Annotated with this GO Term (7923)

positive regulation of transcription by RNA polymerase II

Gene Ontology

Source: GO:0045944

Synonyms:

activation of global transcription from RNA polymerase II promoter
activation of transcription from RNA polymerase II promoter

Branch: biological process

Genes: Chchd2-ps (Mmu)...chchd2 (Dre)...Chchd2 (Mmu)...CHCHD2 (Hsa)...Chchd2 (Rno)

Genes Annotated with this GO Term (5278)

(R6)X:17149107A>G

(Drosophila melanogaster)

Allele/Variant

Source: NC_004354.4:g.17149107A>G

Genes: Chchd2 (Dme)

Synonyms: Not Available

Variant Type: SNP

Molecular Consequence: 5_prime_UTR_variant

Diseases: Not Available

Variant Name: (R6)X:17149107A>G

Gene Synonyms: CHCHD2

(R6)X:17149362A>G

(Drosophila melanogaster)

Allele/Variant

Source: NC_004354.4:g.17149362A>G

Genes: Chchd2 (Dme)

Synonyms: Not Available

Variant Type: SNP

Molecular Consequence: 5_prime_UTR_variant, intron_variant

Diseases: Not Available

Variant Name: (R6)X:17149362A>G

Gene Synonyms: CHCHD2

(R6)X:17149486T>G

(Drosophila melanogaster)

Allele/Variant

Source: NC_004354.4:g.17149486T>G

Genes: Chchd2 (Dme)

Synonyms: Not Available

Variant Type: SNP

Molecular Consequence: intron_variant

Diseases: Not Available

Variant Name: (R6)X:17149486T>G

Gene Synonyms: CHCHD2

(R6)X:17149548T>A

(Drosophila melanogaster)

Allele/Variant

Source: NC_004354.4:g.17149548T>A

Genes: Chchd2 (Dme)

Synonyms: Not Available

Variant Type: SNP

Molecular Consequence: intron_variant

Diseases: Not Available

Variant Name: (R6)X:17149548T>A

Gene Synonyms: CHCHD2

(R6)X:17149724A>G

(Drosophila melanogaster)

Allele/Variant

Source: NC_004354.4:g.17149724A>G

Genes: Chchd2 (Dme)

Synonyms: Not Available

Variant Type: SNP

Molecular Consequence: intron_variant

Diseases: Not Available

Variant Name: (R6)X:17149724A>G

Gene Synonyms: CHCHD2

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