Imported Disease Annotations - MGIObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | C2orf74 | Human | visceral heterotaxy | | ISS | 1700093K21Rik (Mus musculus) | 13592920 | OMIM:306955 more ... | MouseDO | | |
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Imported Disease Annotations - MGIObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | C2orf74 | Human | visceral heterotaxy | | ISS | 1700093K21Rik (Mus musculus) | 13592920 | OMIM:306955 more ... | MouseDO | | |
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# | Reference Title | Reference Citation |
1. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:12477932 | PMID:21102463 | PMID:21988832 | PMID:22412388 | PMID:23128233 | PMID:32296183 | PMID:33571247 | PMID:37249651 | PMID:38113892 |
C2orf74 (Homo sapiens - human) |
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1700093K21Rik (Mus musculus - house mouse) |
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C14h2orf74 (Rattus norvegicus - Norway rat) |
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CUNH2orf74 (Chinchilla lanigera - long-tailed chinchilla) |
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C12H2orf74 (Pan paniscus - bonobo/pygmy chimpanzee) |
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C10H2orf74 (Canis lupus familiaris - dog) |
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CUNH2orf74 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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C3H2orf74 (Sus scrofa - pig) |
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CUNH2orf74 (Chlorocebus sabaeus - green monkey) |
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CUNH2orf74 (Heterocephalus glaber - naked mole-rat) |
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Variants in C2orf74
2 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 2p16.1-15(chr2:59658846-62336083)x1 | copy number loss | See cases [RCV000050796] | Chr2:59658846..62336083 [GRCh38] Chr2:59885981..62563218 [GRCh37] Chr2:59739485..62416722 [NCBI36] Chr2:2p16.1-15 |
pathogenic |
GRCh38/hg38 2p16.1-15(chr2:60009106-62006709)x3 | copy number gain | See cases [RCV000052660] | Chr2:60009106..62006709 [GRCh38] Chr2:60236241..62233844 [GRCh37] Chr2:60089745..62087348 [NCBI36] Chr2:2p16.1-15 |
uncertain significance |
GRCh38/hg38 2p16.1-15(chr2:56738054-62473668)x1 | copy number loss | See cases [RCV000054020] | Chr2:56738054..62473668 [GRCh38] Chr2:56965189..62700803 [GRCh37] Chr2:56818693..62554307 [NCBI36] Chr2:2p16.1-15 |
pathogenic |
GRCh38/hg38 2p16.1-15(chr2:57249378-61842734)x1 | copy number loss | See cases [RCV000054021] | Chr2:57249378..61842734 [GRCh38] Chr2:57476513..62069869 [GRCh37] Chr2:57330017..61923373 [NCBI36] Chr2:2p16.1-15 |
pathogenic |
GRCh38/hg38 2p16.1-14(chr2:58873039-64190332)x1 | copy number loss | See cases [RCV000054022] | Chr2:58873039..64190332 [GRCh38] Chr2:59100174..64417466 [GRCh37] Chr2:58953678..64270970 [NCBI36] Chr2:2p16.1-14 |
pathogenic |
GRCh38/hg38 2p16.1-15(chr2:59224998-61621710)x1 | copy number loss | See cases [RCV000054052] | Chr2:59224998..61621710 [GRCh38] Chr2:59452133..61848845 [GRCh37] Chr2:59305637..61702349 [NCBI36] Chr2:2p16.1-15 |
pathogenic |
GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3 | copy number gain | See cases [RCV000136053] | Chr2:58279519..83586962 [GRCh38] Chr2:58506654..83814086 [GRCh37] Chr2:58360158..83667597 [NCBI36] Chr2:2p16.1-11.2 |
pathogenic |
GRCh38/hg38 2p16.1-15(chr2:60359313-61775405)x3 | copy number gain | See cases [RCV000137542] | Chr2:60359313..61775405 [GRCh38] Chr2:60586448..62002540 [GRCh37] Chr2:60439952..61856044 [NCBI36] Chr2:2p16.1-15 |
uncertain significance |
GRCh38/hg38 2p16.3-11.2(chr2:47620388-86702722)x3 | copy number gain | See cases [RCV000137586] | Chr2:47620388..86702722 [GRCh38] Chr2:47847527..86929845 [GRCh37] Chr2:47701031..86783356 [NCBI36] Chr2:2p16.3-11.2 |
uncertain significance |
GRCh38/hg38 2p16.1-15(chr2:60359313-61704436)x3 | copy number gain | See cases [RCV000139201] | Chr2:60359313..61704436 [GRCh38] Chr2:60586448..61931571 [GRCh37] Chr2:60439952..61785075 [NCBI36] Chr2:2p16.1-15 |
likely pathogenic|likely benign |
GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 | copy number gain | See cases [RCV000141494] | Chr2:7495123..87705899 [GRCh38] Chr2:7635254..88005418 [GRCh37] Chr2:7552705..87786533 [NCBI36] Chr2:2p25.1-11.2 |
benign |
GRCh38/hg38 2p16.1-15(chr2:58031916-63611810)x1 | copy number loss | See cases [RCV000143007] | Chr2:58031916..63611810 [GRCh38] Chr2:58259051..63838944 [GRCh37] Chr2:58112555..63692448 [NCBI36] Chr2:2p16.1-15 |
pathogenic |
GRCh37/hg19 2p16.1-15(chr2:60405806-62442792)x3 | copy number gain | See cases [RCV000239924] | Chr2:60405806..62442792 [GRCh37] Chr2:2p16.1-15 |
uncertain significance |
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 | copy number gain | not provided [RCV000752802] | Chr2:14238..243048760 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
GRCh37/hg19 2p16.1-15(chr2:58837279-63720819)x1 | copy number loss | See cases [RCV000449133] | Chr2:58837279..63720819 [GRCh37] Chr2:2p16.1-15 |
pathogenic |
GRCh37/hg19 2p15(chr2:61384966-61439049)x3 | copy number gain | See cases [RCV000445703] | Chr2:61384966..61439049 [GRCh37] Chr2:2p15 |
uncertain significance |
GRCh37/hg19 2p15(chr2:61335464-61757267)x1 | copy number loss | See cases [RCV000445835] | Chr2:61335464..61757267 [GRCh37] Chr2:2p15 |
likely pathogenic |
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) | copy number gain | See cases [RCV000512056] | Chr2:12771..242783384 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 | copy number gain | See cases [RCV000511212] | Chr2:12771..242783384 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
GRCh37/hg19 2p16.1-15(chr2:60308869-62368583) | copy number gain | Global developmental delay [RCV000626531] | Chr2:60308869..62368583 [GRCh37] Chr2:2p16.1-15 |
likely pathogenic |
GRCh37/hg19 2p16.1-15(chr2:60339550-61374752)x3 | copy number gain | not provided [RCV000682113] | Chr2:60339550..61374752 [GRCh37] Chr2:2p16.1-15 |
uncertain significance |
GRCh37/hg19 2p16.1-15(chr2:60573620-61767847)x3 | copy number gain | not provided [RCV000682120] | Chr2:60573620..61767847 [GRCh37] Chr2:2p16.1-15 |
uncertain significance |
Single allele | deletion | not provided [RCV000714264] | Chr2:40608411..146900718 [GRCh37] Chr2:2p22.1-q22.3 |
likely pathogenic |
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 | copy number gain | not provided [RCV000752804] | Chr2:15672..243101834 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
GRCh37/hg19 2p16.1-15(chr2:61249676-61414183)x3 | copy number gain | not provided [RCV000740469] | Chr2:61249676..61414183 [GRCh37] Chr2:2p16.1-15 |
benign |
GRCh37/hg19 2p16.1-15(chr2:57445335-62733206) | copy number loss | not provided [RCV000767552] | Chr2:57445335..62733206 [GRCh37] Chr2:2p16.1-15 |
likely pathogenic |
GRCh37/hg19 2p15(chr2:61327948-61436931)x3 | copy number gain | not provided [RCV001005280] | Chr2:61327948..61436931 [GRCh37] Chr2:2p15 |
uncertain significance |
GRCh37/hg19 2p15(chr2:61343158-61409905)x1 | copy number loss | not provided [RCV001260156] | Chr2:61343158..61409905 [GRCh37] Chr2:2p15 |
uncertain significance |
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) | copy number gain | Mosaic trisomy 2 [RCV002280628] | Chr2:1..243199373 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
GRCh37/hg19 2p16.1-15(chr2:61288377-61639509)x1 | copy number loss | not provided [RCV001829241] | Chr2:61288377..61639509 [GRCh37] Chr2:2p16.1-15 |
uncertain significance |
GRCh37/hg19 2p16.1-15(chr2:61288351-61394867)x3 | copy number gain | not provided [RCV001827916] | Chr2:61288351..61394867 [GRCh37] Chr2:2p16.1-15 |
uncertain significance |
NC_000002.11:g.(?_61108976)_(62081176_?)del | deletion | Peroxisome biogenesis disorder 11A (Zellweger) [RCV001975094] | Chr2:61108976..62081176 [GRCh37] Chr2:2p16.1-15 |
pathogenic |
NC_000002.11:g.(?_61258534)_(62063264_?)dup | duplication | Peroxisome biogenesis disorder 11A (Zellweger) [RCV001900545] | Chr2:61258534..62063264 [GRCh37] Chr2:2p16.1-15 |
uncertain significance |
GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1 | copy number loss | See cases [RCV002287563] | Chr2:11504318..111365996 [GRCh37] Chr2:2p25.1-q13 |
pathogenic |
GRCh37/hg19 2p16.1-15(chr2:61238958-61414470)x3 | copy number gain | not provided [RCV002473839] | Chr2:61238958..61414470 [GRCh37] Chr2:2p16.1-15 |
uncertain significance |
GRCh37/hg19 2p16.1-15(chr2:60680467-61527143)x3 | copy number gain | not provided [RCV002474560] | Chr2:60680467..61527143 [GRCh37] Chr2:2p16.1-15 |
likely pathogenic |
GRCh37/hg19 2p16.1-15(chr2:61215497-61714418)x1 | copy number loss | not provided [RCV002472493] | Chr2:61215497..61714418 [GRCh37] Chr2:2p16.1-15 |
pathogenic |
GRCh37/hg19 2p15(chr2:61379352-61928100)x1 | copy number loss | not provided [RCV002472544] | Chr2:61379352..61928100 [GRCh37] Chr2:2p15 |
pathogenic |
GRCh37/hg19 2p16.1-15(chr2:61215496-62175386)x3 | copy number gain | not specified [RCV003986317] | Chr2:61215496..62175386 [GRCh37] Chr2:2p16.1-15 |
uncertain significance |
The detailed report is available here: | Full Report | CSV | TAB | Printer | ||||
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
The following QTLs overlap with this region. | Full Report | CSV | TAB | Printer | Gviewer |
adipose tissue
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alimentary part of gastrointestinal system
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appendage
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circulatory system
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ectoderm
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endocrine system
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endoderm
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entire extraembryonic component
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exocrine system
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hemolymphoid system
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hepatobiliary system
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integumental system
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mesenchyme
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mesoderm
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musculoskeletal system
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nervous system
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pharyngeal arch
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renal system
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reproductive system
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respiratory system
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sensory system
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visual system
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1204 | 2378 | 2788 | 2252 | 4973 | 1723 | 2337 | 6 | 621 | 1945 | 462 | 2270 | 7234 | 6456 | 53 | 3733 | 1 | 840 | 1711 | 1606 | 174 | 1 |
Ensembl Acc Id: | ENST00000398622 ⟹ ENSP00000381621 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000426997 ⟹ ENSP00000398725 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000432605 ⟹ ENSP00000402915 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000464909 ⟹ ENSP00000482798 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000488469 ⟹ ENSP00000484061 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000489686 ⟹ ENSP00000481253 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001143959 ⟹ NP_001137431 | ||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001143960 ⟹ NP_001137432 | ||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001316317 ⟹ NP_001303246 | ||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001367069 ⟹ NP_001353998 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001367070 ⟹ NP_001353999 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001367071 ⟹ NP_001354000 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NP_001137432 ⟸ NM_001143960 |
- Peptide Label: | isoform 2 |
- UniProtKB: | C9JBF1 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001137431 ⟸ NM_001143959 |
- Peptide Label: | isoform 1 |
- UniProtKB: | A8MZ97 (UniProtKB/Swiss-Prot), C9JP62 (UniProtKB/Swiss-Prot), A0A087X1C3 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001303246 ⟸ NM_001316317 |
- Peptide Label: | isoform 2 |
- UniProtKB: | C9JBF1 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001353999 ⟸ NM_001367070 |
- Peptide Label: | isoform 2 |
- UniProtKB: | C9JBF1 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | NP_001353998 ⟸ NM_001367069 |
- Peptide Label: | isoform 2 |
- UniProtKB: | C9JBF1 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | NP_001354000 ⟸ NM_001367071 |
- Peptide Label: | isoform 2 |
- UniProtKB: | C9JBF1 (UniProtKB/TrEMBL) |
Ensembl Acc Id: | ENSP00000381621 ⟸ ENST00000398622 |
Ensembl Acc Id: | ENSP00000482798 ⟸ ENST00000464909 |
Ensembl Acc Id: | ENSP00000398725 ⟸ ENST00000426997 |
Ensembl Acc Id: | ENSP00000402915 ⟸ ENST00000432605 |
Ensembl Acc Id: | ENSP00000484061 ⟸ ENST00000488469 |
Ensembl Acc Id: | ENSP00000481253 ⟸ ENST00000489686 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-A8MZ97-F1-model_v2 | AlphaFold | A8MZ97 | 1-187 | view protein structure |
RGD ID: | 6860402 | ||||||||
Promoter ID: | EPDNEW_H3366 | ||||||||
Type: | initiation region | ||||||||
Name: | C2orf74_1 | ||||||||
Description: | chromosome 2 open reading frame 74 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | ||||||||
Position: |
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RGD ID: | 6796913 | ||||||||
Promoter ID: | HG_KWN:32795 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, HeLa_S3, K562, Lymphoblastoid, NB4 | ||||||||
Transcripts: | ENST00000398622, NM_001143960, OTTHUMT00000325484, OTTHUMT00000325544, OTTHUMT00000325686, OTTHUMT00000325687, OTTHUMT00000325688, UC002SBA.1 | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | HGNC:34439 | AgrOrtholog |
COSMIC | C2orf74 | COSMIC |
Ensembl Genes | ENSG00000237651 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000398622.3 | UniProtKB/TrEMBL |
ENST00000426997 | ENTREZGENE | |
ENST00000426997.5 | UniProtKB/TrEMBL | |
ENST00000432605 | ENTREZGENE | |
ENST00000432605.3 | UniProtKB/Swiss-Prot | |
ENST00000464909 | ENTREZGENE | |
ENST00000464909.2 | UniProtKB/TrEMBL | |
ENST00000488469.4 | UniProtKB/TrEMBL | |
ENST00000489686.5 | UniProtKB/TrEMBL | |
GTEx | ENSG00000237651 | GTEx |
HGNC ID | HGNC:34439 | ENTREZGENE |
Human Proteome Map | C2orf74 | Human Proteome Map |
InterPro | DUF4642 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
NCBI Gene | 339804 | ENTREZGENE |
PANTHER | HYPOTHETICAL PROTEIN LOC690352 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PTHR37882 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | DUF4642 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PharmGKB | PA162379547 | PharmGKB |
UniProt | A0A087WXS6_HUMAN | UniProtKB/TrEMBL |
A0A087X1C3 | ENTREZGENE, UniProtKB/TrEMBL | |
A8MZ97 | ENTREZGENE | |
C9JBF1 | ENTREZGENE, UniProtKB/TrEMBL | |
C9JP62 | ENTREZGENE | |
CB074_HUMAN | UniProtKB/Swiss-Prot | |
F8VY72_HUMAN | UniProtKB/TrEMBL | |
UniProt Secondary | C9JP62 | UniProtKB/Swiss-Prot |