Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Spermatogenic Failure 68 | | ISO | C2CD6 (Homo sapiens) | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Spermatogenic Failure 68 | | ISO | C2CD6 (Homo sapiens) | 7240710 | | OMIM | | |
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# | Reference Title | Reference Citation |
1. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
2. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
3. | Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. | Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11. |
C2cd6 (Rattus norvegicus - Norway rat) |
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C2CD6 (Homo sapiens - human) |
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C2cd6 (Mus musculus - house mouse) |
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C2cd6 (Chinchilla lanigera - long-tailed chinchilla) |
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C2CD6 (Pan paniscus - bonobo/pygmy chimpanzee) |
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C2CD6 (Canis lupus familiaris - dog) |
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C2cd6 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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C2CD6 (Sus scrofa - pig) |
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C2CD6 (Chlorocebus sabaeus - green monkey) |
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C2cd6 (Heterocephalus glaber - naked mole-rat) |
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Variants in C2cd6
270 total Variants |
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 |
alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | appendage | |
High | |||||||||||||
Medium | 7 | ||||||||||||
Low | 2 | 2 | 1 | 10 | 2 | ||||||||
Below cutoff | 2 | 2 | 6 | 2 | 6 | 2 | 2 | 3 | 7 | 2 | 12 | 4 | 2 |
RefSeq Transcripts | NM_001024363 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001409059 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017596604 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039084092 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039084093 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039084094 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039084095 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | BC083917 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
CH473965 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JAXUCZ010000009 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSRNOT00000017517 ⟹ ENSRNOP00000017517 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000103146 ⟹ ENSRNOP00000078612 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000104556 ⟹ ENSRNOP00000081609 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000108211 ⟹ ENSRNOP00000097124 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001024363 ⟹ NP_001019534 | ||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001409059 ⟹ NP_001395988 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_017596604 ⟹ XP_017452093 | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_039084092 ⟹ XP_038940020 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_039084093 ⟹ XP_038940021 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_039084094 ⟹ XP_038940022 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_039084095 ⟹ XP_038940023 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Protein RefSeqs | NP_001019534 | (Get FASTA) | NCBI Sequence Viewer |
NP_001395988 | (Get FASTA) | NCBI Sequence Viewer | |
XP_017452093 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038940020 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038940021 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038940022 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038940023 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH83917 | (Get FASTA) | NCBI Sequence Viewer |
EDL98967 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSRNOP00000017517.5 | ||
ENSRNOP00000078612 | |||
ENSRNOP00000078612.1 | |||
ENSRNOP00000081609.1 | |||
ENSRNOP00000097124.1 |
RefSeq Acc Id: | NP_001019534 ⟸ NM_001024363 |
- Peptide Label: | isoform 1 |
- UniProtKB: | F7ENY6 (UniProtKB/TrEMBL), Q5XHY2 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_017452093 ⟸ XM_017596604 |
- Peptide Label: | isoform X3 |
- Sequence: |
RefSeq Acc Id: | ENSRNOP00000017517 ⟸ ENSRNOT00000017517 |
RefSeq Acc Id: | XP_038940020 ⟸ XM_039084092 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_038940021 ⟸ XM_039084093 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_038940022 ⟸ XM_039084094 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_038940023 ⟸ XM_039084095 |
- Peptide Label: | isoform X4 |
RefSeq Acc Id: | ENSRNOP00000081609 ⟸ ENSRNOT00000104556 |
RefSeq Acc Id: | ENSRNOP00000078612 ⟸ ENSRNOT00000103146 |
RefSeq Acc Id: | ENSRNOP00000097124 ⟸ ENSRNOT00000108211 |
RefSeq Acc Id: | NP_001395988 ⟸ NM_001409059 |
- Peptide Label: | isoform 2 |
- UniProtKB: | A0A8I6G3E6 (UniProtKB/TrEMBL), A0A8I5ZTA5 (UniProtKB/TrEMBL) |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-F7ENY6-F1-model_v2 | AlphaFold | F7ENY6 | 1-561 | view protein structure |
eQTL | View at Phenogen | |
WGCNA | View at Phenogen | |
Tissue/Strain Expression | View at Phenogen |
RGD ID: | 13696697 | ||||||||
Promoter ID: | EPDNEW_R7222 | ||||||||
Type: | multiple initiation site | ||||||||
Name: | C2cd6_1 | ||||||||
Description: | C2 calcium dependent domain containing 6 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | RGD:1565450 | AgrOrtholog |
BioCyc Gene | G2FUF-27426 | BioCyc |
Ensembl Genes | ENSRNOG00000012637 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
Ensembl Transcript | ENSRNOT00000017517.4 | UniProtKB/TrEMBL |
ENSRNOT00000103146 | ENTREZGENE | |
ENSRNOT00000103146.1 | UniProtKB/TrEMBL | |
ENSRNOT00000104556.1 | UniProtKB/TrEMBL | |
ENSRNOT00000108211.1 | UniProtKB/TrEMBL | |
IMAGE_CLONE | IMAGE:7134752 | IMAGE-MGC_LOAD |
InterPro | ALS2CR11 | UniProtKB/TrEMBL |
CTSRT_C2 | UniProtKB/TrEMBL | |
KEGG Report | rno:501147 | UniProtKB/TrEMBL |
MGC_CLONE | MGC:95303 | IMAGE-MGC_LOAD |
NCBI Gene | 501147 | ENTREZGENE |
PANTHER | C2 CALCIUM-DEPENDENT DOMAIN-CONTAINING 6 | UniProtKB/TrEMBL |
PTHR21665 | UniProtKB/TrEMBL | |
Pfam | ALS2CR11 | UniProtKB/TrEMBL |
PhenoGen | C2cd6 | PhenoGen |
RatGTEx | ENSRNOG00000012637 | RatGTEx |
UniProt | A0A8I5ZTA5 | ENTREZGENE, UniProtKB/TrEMBL |
A0A8I6AN64_RAT | UniProtKB/TrEMBL | |
A0A8I6G3E6 | ENTREZGENE, UniProtKB/TrEMBL | |
F7ENY6 | ENTREZGENE, UniProtKB/TrEMBL | |
Q5XHY2 | ENTREZGENE, UniProtKB/TrEMBL |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2021-03-09 | C2cd6 | C2 calcium dependent domain containing 6 | LOC102552195 | uncharacterized LOC102552195 | Data merged from RGD:7618002 | 737654 | PROVISIONAL |
2017-03-02 | C2cd6 | C2 calcium dependent domain containing 6 | Als2cr11 | amyotrophic lateral sclerosis 2 chromosome region, candidate 11 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2015-11-12 | Als2cr11 | amyotrophic lateral sclerosis 2 chromosome region, candidate 11 | Als2cr11 | amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2013-12-18 | LOC102552195 | uncharacterized LOC102552195 | Symbol and Name status set to provisional | 70820 | PROVISIONAL | ||
2012-07-13 | Als2cr11 | amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 | Als2cr11 | amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 (human) | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2008-05-15 | Als2cr11 | amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 (human) | Als2cr11 | amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2008-03-05 | Als2cr11 | amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 | LOC501147 | similar to RIKEN cDNA 1700052H20 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2006-02-09 | LOC501147 | similar to RIKEN cDNA 1700052H20 | Symbol and Name status set to provisional | 70820 | PROVISIONAL |