C2CD2L (C2CD2 like) - Rat Genome Database

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Gene: C2CD2L (C2CD2 like) Homo sapiens
Analyze
Symbol: C2CD2L
Name: C2CD2 like
RGD ID: 1321089
HGNC Page HGNC
Description: Enables phosphatidylinositol binding activity and phosphatidylinositol transfer activity. Involved in positive regulation of insulin secretion involved in cellular response to glucose stimulus. Located in cortical endoplasmic reticulum and endoplasmic reticulum-plasma membrane contact site. Colocalizes with cytoplasmic side of apical plasma membrane; INTERACTS WITH (+)-catechin; (-)-epigallocatechin 3-gallate; aristolochic acid.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: C2 domain-containing protein 2-like; C2CD2-like; DLNB23; KIAA0285; phospholipid transfer protein C2CD2L; TMEM24; transmembrane protein 24
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl11119,102,198 - 119,118,544 (+)EnsemblGRCh38hg38GRCh38
GRCh3811119,106,750 - 119,118,544 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3711118,977,460 - 118,989,254 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3611118,483,303 - 118,493,037 (+)NCBINCBI36hg18NCBI36
Build 3411118,483,302 - 118,493,036NCBI
Celera11116,135,506 - 116,145,233 (+)NCBI
Cytogenetic Map11q23.3NCBI
HuRef11114,917,539 - 114,927,267 (+)NCBIHuRef
CHM1_111118,864,397 - 118,874,130 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:9179496   PMID:12168954   PMID:15289880   PMID:15489334   PMID:16344560   PMID:16368544   PMID:17081983   PMID:21873635   PMID:22157746   PMID:24012759   PMID:28209843   PMID:28514442  
PMID:28692057   PMID:29509190   PMID:30021884   PMID:30194290   PMID:30737378   PMID:30819882   PMID:31056421   PMID:31527615   PMID:31753913   PMID:32296183   PMID:32513696   PMID:32877691  
PMID:33479206   PMID:34079125  


Genomics

Comparative Map Data
C2CD2L
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl11119,102,198 - 119,118,544 (+)EnsemblGRCh38hg38GRCh38
GRCh3811119,106,750 - 119,118,544 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3711118,977,460 - 118,989,254 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3611118,483,303 - 118,493,037 (+)NCBINCBI36hg18NCBI36
Build 3411118,483,302 - 118,493,036NCBI
Celera11116,135,506 - 116,145,233 (+)NCBI
Cytogenetic Map11q23.3NCBI
HuRef11114,917,539 - 114,927,267 (+)NCBIHuRef
CHM1_111118,864,397 - 118,874,130 (+)NCBICHM1_1
C2cd2l
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39944,220,534 - 44,231,579 (-)NCBIGRCm39mm39
GRCm39 Ensembl944,220,534 - 44,231,582 (-)Ensembl
GRCm38944,309,237 - 44,320,282 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl944,309,237 - 44,320,285 (-)EnsemblGRCm38mm10GRCm38
MGSCv37944,117,320 - 44,128,365 (-)NCBIGRCm37mm9NCBIm37
MGSCv36944,061,210 - 44,071,141 (-)NCBImm8
Celera941,563,858 - 41,575,016 (-)NCBICelera
Cytogenetic Map9A5.2NCBI
C2cd2l
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2844,648,074 - 44,658,856 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl844,648,079 - 44,658,340 (-)Ensembl
Rnor_6.0848,641,792 - 48,652,119 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl848,641,801 - 48,652,071 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0847,259,701 - 47,269,990 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4847,288,755 - 47,299,021 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1847,297,520 - 47,307,787 (-)NCBI
Celera844,234,307 - 44,244,573 (-)NCBICelera
Cytogenetic Map8q22NCBI
C2cd2l
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541220,223,890 - 20,236,709 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541220,214,915 - 20,232,260 (+)NCBIChiLan1.0ChiLan1.0
C2CD2L
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.111117,874,533 - 117,884,442 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl11117,875,077 - 117,883,581 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v011113,944,939 - 113,955,296 (+)NCBIMhudiblu_PPA_v0panPan3
C2CD2L
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1514,746,613 - 14,755,952 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl514,747,208 - 14,755,925 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha514,799,654 - 14,808,590 (-)NCBI
ROS_Cfam_1.0514,689,970 - 14,698,925 (-)NCBI
UMICH_Zoey_3.1514,828,022 - 14,836,974 (-)NCBI
UNSW_CanFamBas_1.0514,732,039 - 14,740,991 (-)NCBI
UU_Cfam_GSD_1.0514,772,426 - 14,781,368 (-)NCBI
C2cd2l
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947101,132,837 - 101,146,771 (+)NCBI
SpeTri2.0NW_0049365424,058,945 - 4,068,187 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
C2CD2L
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl946,321,817 - 46,331,078 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1946,321,761 - 46,331,078 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2951,356,903 - 51,366,225 (+)NCBISscrofa10.2Sscrofa10.2susScr3
C2CD2L
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11110,475,073 - 110,490,431 (+)NCBI
ChlSab1.1 Ensembl1110,480,738 - 110,491,508 (+)Ensembl
Vero_WHO_p1.0NW_02366604315,543,655 - 15,559,150 (-)NCBI
C2cd2l
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462478414,489,638 - 14,498,617 (+)NCBI

Position Markers
D11S368  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,985,589 - 118,985,844UniSTSGRCh37
Build 3611118,490,799 - 118,491,054RGDNCBI36
Celera11116,143,001 - 116,143,256RGD
Cytogenetic Map11q23.3UniSTS
D11S3352  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,986,335 - 118,986,614UniSTSGRCh37
Build 3611118,491,545 - 118,491,824RGDNCBI36
Celera11116,143,741 - 116,144,020RGD
Cytogenetic Map11q23.3UniSTS
HuRef11114,925,775 - 114,926,054UniSTS
RH15998  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,987,622 - 118,987,788UniSTSGRCh37
GRCh3711118,987,622 - 118,989,215UniSTSGRCh37
Build 3611118,492,832 - 118,492,998RGDNCBI36
Celera11116,145,028 - 116,146,621UniSTS
Celera11116,145,028 - 116,145,194RGD
Cytogenetic Map11q23.3UniSTS
HuRef11114,927,062 - 114,927,228UniSTS
HuRef11114,927,062 - 114,928,655UniSTS
GeneMap99-GB4 RH Map11386.42UniSTS
TMEM24_9007  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,987,110 - 118,987,847UniSTSGRCh37
Build 3611118,492,320 - 118,493,057RGDNCBI36
Celera11116,144,516 - 116,145,253RGD
HuRef11114,926,550 - 114,927,287UniSTS
L17705  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map5q21UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map17q25.2UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map1p21.3UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map18q21.31UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map11q12UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map19qUniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map4p16UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map3q21.3UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4986
Count of miRNA genes:1092
Interacting mature miRNAs:1387
Transcripts:ENST00000336702, ENST00000525598, ENST00000527854, ENST00000528271, ENST00000528586, ENST00000529600, ENST00000529874, ENST00000529885, ENST00000533458, ENST00000534024
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

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 sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 982 943 831 134 817 31 2580 582 2992 44 526 1105 104 325 1784
Low 1449 2042 894 489 1125 433 1775 1611 737 374 925 503 69 1 879 1004 4 1
Below cutoff 3 3 1 6 1 1 5 1 8 2 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001290474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006718948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011543076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001748053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001748054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB006623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB094094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP003391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC003598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC021254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC022219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC033083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC040131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC052246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC075832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX327704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537572 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA309483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA768421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA801995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000336702   ⟹   ENSP00000338885
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11119,107,383 - 119,118,544 (+)Ensembl
RefSeq Acc Id: ENST00000525598
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11119,110,587 - 119,117,121 (+)Ensembl
RefSeq Acc Id: ENST00000527854
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11119,106,942 - 119,107,758 (+)Ensembl
RefSeq Acc Id: ENST00000528271
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11119,106,715 - 119,107,546 (+)Ensembl
RefSeq Acc Id: ENST00000528586   ⟹   ENSP00000433600
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11119,111,057 - 119,117,121 (+)Ensembl
RefSeq Acc Id: ENST00000529600
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11119,106,742 - 119,107,576 (+)Ensembl
RefSeq Acc Id: ENST00000529874
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11119,110,103 - 119,114,134 (+)Ensembl
RefSeq Acc Id: ENST00000529885
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11119,106,750 - 119,107,696 (+)Ensembl
RefSeq Acc Id: ENST00000533458
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11119,111,561 - 119,113,289 (+)Ensembl
RefSeq Acc Id: ENST00000534024
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11119,102,198 - 119,107,696 (+)Ensembl
RefSeq Acc Id: ENST00000648610   ⟹   ENSP00000497391
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11119,107,344 - 119,118,544 (+)Ensembl
RefSeq Acc Id: NM_001290474   ⟹   NP_001277403
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811119,107,344 - 119,118,544 (+)NCBI
CHM1_111118,864,364 - 118,874,137 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382611   ⟹   NP_001369540
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811119,107,344 - 119,118,544 (+)NCBI
RefSeq Acc Id: NM_001382612   ⟹   NP_001369541
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811119,107,344 - 119,118,544 (+)NCBI
RefSeq Acc Id: NM_001382613   ⟹   NP_001369542
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811119,106,750 - 119,118,544 (+)NCBI
RefSeq Acc Id: NM_014807   ⟹   NP_055622
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811119,107,344 - 119,118,544 (+)NCBI
GRCh3711118,977,771 - 118,988,304 (+)NCBI
Build 3611118,483,303 - 118,493,037 (+)NCBI Archive
Celera11116,135,506 - 116,145,233 (+)RGD
HuRef11114,917,539 - 114,927,267 (+)ENTREZGENE
CHM1_111118,864,364 - 118,874,137 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006718948   ⟹   XP_006719011
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811119,106,752 - 119,118,347 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011543076   ⟹   XP_011541378
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811119,108,112 - 119,117,113 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017018626   ⟹   XP_016874115
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811119,106,752 - 119,118,347 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017018627   ⟹   XP_016874116
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811119,106,752 - 119,118,347 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017018628   ⟹   XP_016874117
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811119,109,184 - 119,117,121 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001748053
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811119,106,752 - 119,118,347 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001748054
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811119,106,752 - 119,118,347 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_055622   ⟸   NM_014807
- Peptide Label: isoform 1
- UniProtKB: O14523 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006719011   ⟸   XM_006718948
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001277403   ⟸   NM_001290474
- Peptide Label: isoform 2
- UniProtKB: O14523 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011541378   ⟸   XM_011543076
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016874115   ⟸   XM_017018626
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016874116   ⟸   XM_017018627
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016874117   ⟸   XM_017018628
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: NP_001369542   ⟸   NM_001382613
- Peptide Label: isoform 2
RefSeq Acc Id: NP_001369541   ⟸   NM_001382612
- Peptide Label: isoform 4
RefSeq Acc Id: NP_001369540   ⟸   NM_001382611
- Peptide Label: isoform 3
RefSeq Acc Id: ENSP00000497391   ⟸   ENST00000648610
RefSeq Acc Id: ENSP00000338885   ⟸   ENST00000336702
RefSeq Acc Id: ENSP00000433600   ⟸   ENST00000528586
Protein Domains
C2   SMP-LBD

Promoters
RGD ID:6788563
Promoter ID:HG_KWN:14366
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   Lymphoblastoid
Transcripts:NM_014807,   UC001PVO.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3611118,482,959 - 118,483,459 (+)MPROMDB
RGD ID:7222379
Promoter ID:EPDNEW_H16935
Type:initiation region
Name:C2CD2L_2
Description:C2CD2 like
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16937  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811119,101,493 - 119,101,553EPDNEW
RGD ID:7222383
Promoter ID:EPDNEW_H16937
Type:initiation region
Name:C2CD2L_1
Description:C2CD2 like
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16935  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811119,107,344 - 119,107,404EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3 copy number gain See cases [RCV000050331] Chr11:116851395..134998513 [GRCh38]
Chr11:116722111..134868407 [GRCh37]
Chr11:116227321..134373617 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3 copy number gain See cases [RCV000050627] Chr11:113444446..120648921 [GRCh38]
Chr11:113315168..120519630 [GRCh37]
Chr11:112820378..120024840 [NCBI36]
Chr11:11q23.2-23.3
pathogenic
GRCh38/hg38 11q23.3-25(chr11:118789765-134998513)x3 copy number gain See cases [RCV000051213] Chr11:118789765..134998513 [GRCh38]
Chr11:118660474..134868407 [GRCh37]
Chr11:118165684..134373617 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3 copy number gain See cases [RCV000053638] Chr11:100348599..135040246 [GRCh38]
Chr11:100219331..134910140 [GRCh37]
Chr11:99724541..134415350 [NCBI36]
Chr11:11q22.1-25
pathogenic
NM_001290474.1(C2CD2L):c.355-82G>C single nucleotide variant Lung cancer [RCV000109666] Chr11:119110022 [GRCh38]
Chr11:118980732 [GRCh37]
Chr11:11q23.3
uncertain significance
GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3 copy number gain See cases [RCV000134064] Chr11:116851372..134998526 [GRCh38]
Chr11:116722088..134868420 [GRCh37]
Chr11:116227298..134373630 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3 copy number gain See cases [RCV000137582] Chr11:112864326..131189315 [GRCh38]
Chr11:112832130..131059210 [GRCh37]
Chr11:112240259..130564420 [NCBI36]
Chr11:11q23.2-25
pathogenic
GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3 copy number gain See cases [RCV000137453] Chr11:116868935..135075271 [GRCh38]
Chr11:116739651..134945165 [GRCh37]
Chr11:116244861..134450377 [NCBI36]
Chr11:11q23.3-25
pathogenic|conflicting data from submitters
GRCh38/hg38 11q23.3(chr11:118933083-119215291)x3 copy number gain See cases [RCV000137489] Chr11:118933083..119215291 [GRCh38]
Chr11:118803792..119086001 [GRCh37]
Chr11:118309002..118591211 [NCBI36]
Chr11:11q23.3
likely benign
GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3 copy number gain See cases [RCV000138307] Chr11:116806268..135075271 [GRCh38]
Chr11:116676984..134945165 [GRCh37]
Chr11:116182194..134450377 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3 copy number gain See cases [RCV000139362] Chr11:117333952..127709156 [GRCh38]
Chr11:117204668..127579051 [GRCh37]
Chr11:116709878..127084261 [NCBI36]
Chr11:11q23.3-24.2
pathogenic
GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3 copy number gain See cases [RCV000148276] Chr11:116851395..134998513 [GRCh38]
Chr11:116722111..134868407 [GRCh37]
Chr11:116227321..134373617 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3(chr11:115215434-120559928)x3 copy number gain See cases [RCV000240308] Chr11:115215434..120559928 [GRCh37]
Chr11:11q23.3
pathogenic
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain See cases [RCV000449449] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:116684163-134938470)x3 copy number gain See cases [RCV000447848] Chr11:116684163..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain See cases [RCV000512291] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain not provided [RCV000683373] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3(chr11:116669751-120979377)x3 copy number gain not provided [RCV000683365] Chr11:116669751..120979377 [GRCh37]
Chr11:11q23.3
likely pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25
pathogenic
Single allele duplication Schizophrenia [RCV000754124] Chr11:118989374..135076622 [GRCh38]
Chr11:11q23.3-25
likely pathogenic
GRCh37/hg19 11q23.3-25(chr11:116697066-134934063)x3 copy number gain not provided [RCV000737686] Chr11:116697066..134934063 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NM_014807.5(C2CD2L):c.211C>A (p.Arg71=) single nucleotide variant not provided [RCV000898731] Chr11:119107952 [GRCh38]
Chr11:118978662 [GRCh37]
Chr11:11q23.3
benign
NC_000011.9:g.(?_118967698)_(119170501_?)del deletion DPAGT1-CDG [RCV001389247]|Rasopathy [RCV000807927] Chr11:118967698..119170501 [GRCh37]
Chr11:11q23.3
pathogenic|uncertain significance
GRCh37/hg19 11q23.3-25(chr11:116691675-134889485) copy number gain not provided [RCV000767667] Chr11:116691675..134889485 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:116700253-134904063) copy number gain not provided [RCV000767816] Chr11:116700253..134904063 [GRCh37]
Chr11:11q23.3-25
pathogenic
NC_000011.9:g.(?_118007722)_(119170511_?)del deletion Long QT syndrome 10 [RCV000816632] Chr11:118007722..119170511 [GRCh37]
Chr11:11q23.3
uncertain significance
GRCh37/hg19 11q23.3-25(chr11:117830263-134938470)x3 copy number gain not provided [RCV000848151] Chr11:117830263..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3(chr11:118280670-119650105)x3 copy number gain not provided [RCV001006451] Chr11:118280670..119650105 [GRCh37]
Chr11:11q23.3
uncertain significance
NM_014807.5(C2CD2L):c.451-8G>A single nucleotide variant not provided [RCV000957011] Chr11:119110553 [GRCh38]
Chr11:118981263 [GRCh37]
Chr11:11q23.3
benign
Single allele deletion Short stature [RCV001003892] Chr11:114433313..131230466 [GRCh37]
Chr11:11q23.2-25
likely pathogenic
NC_000011.9:g.(?_118967698)_(119170501_?)dup duplication DPAGT1-CDG [RCV001033778] Chr11:118967698..119170501 [GRCh37]
Chr11:11q23.3
uncertain significance
NC_000011.9:g.(?_118967698)_(119170501_?)dup duplication DPAGT1-CDG [RCV001313747] Chr11:118967698..119170501 [GRCh37]
Chr11:11q23.3
uncertain significance
NC_000011.9:g.(?_118007722)_(119170511_?)del deletion Long QT syndrome 10 [RCV001309948] Chr11:118007722..119170511 [GRCh37]
Chr11:11q23.3
uncertain significance
NC_000011.9:g.(?_118967698)_(119170501_?)del deletion Rasopathy [RCV001304848] Chr11:118967698..119170501 [GRCh37]
Chr11:11q23.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29000 AgrOrtholog
COSMIC C2CD2L COSMIC
Ensembl Genes ENSG00000172375 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000338885 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000433600 UniProtKB/TrEMBL
  ENSP00000497391 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000336702 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000528586 UniProtKB/TrEMBL
  ENST00000648610 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.40.150 UniProtKB/TrEMBL
GTEx ENSG00000172375 GTEx
HGNC ID HGNC:29000 ENTREZGENE
Human Proteome Map C2CD2L Human Proteome Map
InterPro C2_domain_sf UniProtKB/TrEMBL
  C2CD2/C2CD2L UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SMP_C2CD2L UniProtKB/Swiss-Prot
KEGG Report hsa:9854 UniProtKB/Swiss-Prot
NCBI Gene 9854 ENTREZGENE
OMIM 617582 OMIM
PANTHER PTHR21119 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam SMP_C2CD2L UniProtKB/Swiss-Prot
PharmGKB PA162379049 PharmGKB
PROSITE PS50004 UniProtKB/Swiss-Prot
UniProt C2C2L_HUMAN UniProtKB/Swiss-Prot
  E9PK05_HUMAN UniProtKB/TrEMBL
  O14523 ENTREZGENE
  Q6DHX1_HUMAN UniProtKB/TrEMBL
  Q9BTM2_HUMAN UniProtKB/TrEMBL
UniProt Secondary Q86UT7 UniProtKB/Swiss-Prot
  Q86V04 UniProtKB/Swiss-Prot
  Q8N522 UniProtKB/Swiss-Prot
  Q8TBN4 UniProtKB/Swiss-Prot
  Q96G10 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-26 C2CD2L  C2CD2 like    C2CD2-like  Symbol and/or name change 5135510 APPROVED
2011-07-27 C2CD2L  C2CD2-like  TMEM24  transmembrane protein 24  Symbol and/or name change 5135510 APPROVED