CALHM5 (calcium homeostasis modulator family member 5) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: CALHM5 (calcium homeostasis modulator family member 5) Homo sapiens
Analyze
Symbol: CALHM5
Name: calcium homeostasis modulator family member 5
RGD ID: 1321291
HGNC Page HGNC
Description: Predicted to have cation channel activity. Predicted to be involved in cation transmembrane transport. Predicted to localize to integral component of plasma membrane; INTERACTS WITH 3-isobutyl-1-methyl-7H-xanthine; antirheumatic drug; arsane.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: C6orf188; calcium homeostasis modulator protein 5; chromosome 6 open reading frame 188; dJ493F7.3; FAM26E; family with sequence similarity 26 member E; family with sequence similarity 26, member E; hypothetical protein LOC254228; MGC45451
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 Ensembl6116,511,639 - 116,524,788 (+)EnsemblGRCh38hg38GRCh38
GRCh386116,511,639 - 116,524,788 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh376116,832,802 - 116,845,951 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 366116,939,501 - 116,946,402 (+)NCBINCBI36hg18NCBI36
Build 346116,939,500 - 116,944,630NCBI
Celera6117,575,879 - 117,582,776 (+)NCBI
Cytogenetic Map6q22.1NCBI
HuRef6114,412,412 - 114,419,285 (+)NCBIHuRef
CHM1_16117,096,424 - 117,103,339 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:12477932   PMID:14574404   PMID:14702039   PMID:15489334   PMID:21873635   PMID:23376485   PMID:28514442  


Genomics

Comparative Map Data
CALHM5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl6116,511,639 - 116,524,788 (+)EnsemblGRCh38hg38GRCh38
GRCh386116,511,639 - 116,524,788 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh376116,832,802 - 116,845,951 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 366116,939,501 - 116,946,402 (+)NCBINCBI36hg18NCBI36
Build 346116,939,500 - 116,944,630NCBI
Celera6117,575,879 - 117,582,776 (+)NCBI
Cytogenetic Map6q22.1NCBI
HuRef6114,412,412 - 114,419,285 (+)NCBIHuRef
CHM1_16117,096,424 - 117,103,339 (+)NCBICHM1_1
Calhm5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391033,967,348 - 33,972,515 (-)NCBIGRCm39mm39
GRCm39 Ensembl1033,963,811 - 33,972,515 (-)Ensembl
GRCm381034,091,352 - 34,096,519 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1034,087,815 - 34,096,519 (-)EnsemblGRCm38mm10GRCm38
MGSCv371033,811,158 - 33,816,325 (-)NCBIGRCm37mm9NCBIm37
MGSCv361033,780,768 - 33,785,935 (-)NCBImm8
Celera1035,001,152 - 35,006,319 (-)NCBICelera
Cytogenetic Map10B1NCBI
Calhm5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.22026,066,270 - 26,072,348 (-)NCBI
Rnor_6.0 Ensembl2027,651,312 - 27,657,983 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.02027,651,817 - 27,673,817 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.02029,476,316 - 29,497,695 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42037,693,422 - 37,699,449 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.12037,716,432 - 37,722,467 (+)NCBI
Celera2027,519,947 - 27,526,025 (-)NCBICelera
Cytogenetic Map20q11NCBI
Calhm5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955526203,971 - 213,328 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955526203,971 - 213,328 (-)NCBIChiLan1.0ChiLan1.0
CALHM5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.16118,464,517 - 118,471,411 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl6118,464,517 - 118,471,411 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v06114,319,599 - 114,325,898 (+)NCBIMhudiblu_PPA_v0panPan3
CALHM5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1156,928,836 - 56,934,196 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl156,928,864 - 56,933,455 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha157,723,791 - 57,729,997 (+)NCBI
ROS_Cfam_1.0157,110,486 - 57,116,699 (+)NCBI
UMICH_Zoey_3.1157,004,939 - 57,011,144 (+)NCBI
UNSW_CanFamBas_1.0156,853,134 - 56,859,286 (+)NCBI
UU_Cfam_GSD_1.0157,482,079 - 57,488,240 (+)NCBI
Calhm5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404946107,331,091 - 107,336,385 (+)NCBI
SpeTri2.0NW_0049368241,056,082 - 1,061,368 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CALHM5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl182,108,942 - 82,119,476 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1182,109,042 - 82,119,480 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2192,219,733 - 92,220,970 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CALHM5
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11357,294,969 - 57,300,539 (-)NCBI
ChlSab1.1 Ensembl1357,294,951 - 57,300,068 (-)Ensembl
Vero_WHO_p1.0NW_02366604029,622,343 - 29,630,429 (-)NCBI
Calhm5
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248561,929,416 - 1,936,196 (-)NCBI

Position Markers
SHGC-54632  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376116,839,261 - 116,839,392UniSTSGRCh37
Build 366116,945,954 - 116,946,085RGDNCBI36
Celera6117,582,328 - 117,582,459RGD
Cytogenetic Map6q22.1UniSTS
HuRef6114,418,837 - 114,418,968UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3062
Count of miRNA genes:1231
Interacting mature miRNAs:1576
Transcripts:ENST00000368599
Prediction methods:Microtar, Miranda
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 4 730 1 1 3 1 316 34 1 11 6 33 271 1
Low 2125 1467 1222 272 545 134 3417 1807 1228 329 1241 1403 148 1 1168 2158 3
Below cutoff 222 732 487 337 767 315 574 368 2463 70 157 94 24 3 359 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000368599   ⟹   ENSP00000357588
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6116,511,639 - 116,524,788 (+)Ensembl
RefSeq Acc Id: NM_153711   ⟹   NP_714922
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386116,511,639 - 116,524,788 (+)NCBI
GRCh376116,832,808 - 116,839,709 (+)RGD
Build 366116,939,501 - 116,946,402 (+)NCBI Archive
Celera6117,575,879 - 117,582,776 (+)RGD
HuRef6114,412,412 - 114,419,285 (+)ENTREZGENE
CHM1_16117,096,424 - 117,109,585 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_714922 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein BAG37946 (Get FASTA)   NCBI Sequence Viewer  
  BAG52825 (Get FASTA)   NCBI Sequence Viewer  
  EAW48226 (Get FASTA)   NCBI Sequence Viewer  
  Q8N5C1 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_714922   ⟸   NM_153711
- UniProtKB: Q8N5C1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000357588   ⟸   ENST00000368599

Promoters
RGD ID:7208957
Promoter ID:EPDNEW_H10225
Type:initiation region
Name:FAM26E_1
Description:family with sequence similarity 26 member E
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh386116,511,670 - 116,511,730EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1 copy number loss See cases [RCV000051196] Chr6:108944899..132067720 [GRCh38]
Chr6:109266102..132388860 [GRCh37]
Chr6:109372795..132430553 [NCBI36]
Chr6:6q21-23.2
pathogenic
GRCh38/hg38 6q22.1(chr6:115220054-117196371)x1 copy number loss See cases [RCV000052195] Chr6:115220054..117196371 [GRCh38]
Chr6:115541218..117517534 [GRCh37]
Chr6:115647911..117624227 [NCBI36]
Chr6:6q22.1
pathogenic
GRCh38/hg38 6q22.1-22.33(chr6:115601230-128514324)x1 copy number loss See cases [RCV000052196] Chr6:115601230..128514324 [GRCh38]
Chr6:115922394..128835469 [GRCh37]
Chr6:116029087..128877162 [NCBI36]
Chr6:6q22.1-22.33
pathogenic
GRCh38/hg38 6q22.1-22.2(chr6:115326962-117935240)x1 copy number loss See cases [RCV000135623] Chr6:115326962..117935240 [GRCh38]
Chr6:115648126..118256403 [GRCh37]
Chr6:115754819..118363096 [NCBI36]
Chr6:6q22.1-22.2
likely pathogenic
GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1 copy number loss See cases [RCV000139465] Chr6:96609994..122161548 [GRCh38]
Chr6:97057870..122482694 [GRCh37]
Chr6:97164591..122524393 [NCBI36]
Chr6:6q16.1-22.31
pathogenic
GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3 copy number gain See cases [RCV000139729] Chr6:74382807..142040500 [GRCh38]
Chr6:75092523..142361637 [GRCh37]
Chr6:75149243..142403330 [NCBI36]
Chr6:6q13-24.1
pathogenic
GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1 copy number loss See cases [RCV000141587] Chr6:106503719..125781219 [GRCh38]
Chr6:106951594..126102365 [GRCh37]
Chr6:107058287..126144058 [NCBI36]
Chr6:6q21-22.31
pathogenic
GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1 copy number loss See cases [RCV000143227] Chr6:100054889..120488154 [GRCh38]
Chr6:100502765..120809300 [GRCh37]
Chr6:100609486..120850999 [NCBI36]
Chr6:6q16.3-22.31
pathogenic
NC_000006.11:g.(112511751_112511752)_(118037595_118037596)del deletion Dysmorphic features [RCV000157073] Chr6:112511752..118037595 [GRCh37]
Chr6:6q21-22.1
pathogenic
NC_000006.11:g.(116681080_116735056)_(119687719_119775014)del deletion Delayed speech and language development [RCV000157076] Chr6:116735056..119687719 [GRCh37]
Chr6:6q22.1-22.31
pathogenic
GRCh37/hg19 6q21-22.1(chr6:114318401-116957002)x3 copy number gain not provided [RCV000487884] Chr6:114318401..116957002 [GRCh37]
Chr6:6q21-22.1
uncertain significance
GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)x1 copy number loss See cases [RCV000445666] Chr6:85988428..120548687 [GRCh37]
Chr6:6q14.3-22.31
pathogenic
GRCh37/hg19 6q21-q22(chr6:112069445-120994664)x1 copy number loss 6q21-6q22.1 deletion [RCV000416567] Chr6:112069445..120994664 [GRCh37]
Chr6:6q21-22.31
likely pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6q21-23.2(chr6:112939290-132327952)x1 copy number loss PARP Inhibitor response [RCV000626432] Chr6:112939290..132327952 [GRCh37]
Chr6:6q21-23.2
drug response
GRCh37/hg19 6q21-22.1(chr6:113261042-117842826)x1 copy number loss not provided [RCV000682711] Chr6:113261042..117842826 [GRCh37]
Chr6:6q21-22.1
pathogenic
GRCh37/hg19 6q22.1(chr6:116656963-116903944)x3 copy number gain not provided [RCV000682713] Chr6:116656963..116903944 [GRCh37]
Chr6:6q22.1
uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6q22.1(chr6:116601285-117057982)x3 copy number gain not provided [RCV000745999] Chr6:116601285..117057982 [GRCh37]
Chr6:6q22.1
benign
GRCh37/hg19 6q21-22.31(chr6:110981075-119608396)x1 copy number loss not provided [RCV000848701] Chr6:110981075..119608396 [GRCh37]
Chr6:6q21-22.31
pathogenic
GRCh37/hg19 6q16.3-22.1(chr6:101296547-117004249)x3 copy number gain Microcephaly [RCV001251053] Chr6:101296547..117004249 [GRCh37]
Chr6:6q16.3-22.1
pathogenic
NC_000006.11:g.116734559_123648104del deletion Seizures [RCV001256147] Chr6:116734559..123648104 [GRCh37]
Chr6:6q22.1-22.31
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:21568 AgrOrtholog
COSMIC CALHM5 COSMIC
Ensembl Genes ENSG00000178033 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000357588 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000368599 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000178033 GTEx
HGNC ID HGNC:21568 ENTREZGENE
Human Proteome Map CALHM5 Human Proteome Map
InterPro CALHM UniProtKB/Swiss-Prot
  Calhm5 UniProtKB/Swiss-Prot
KEGG Report hsa:254228 UniProtKB/Swiss-Prot
NCBI Gene 254228 ENTREZGENE
PANTHER PTHR32261 UniProtKB/Swiss-Prot
  PTHR32261:SF8 UniProtKB/Swiss-Prot
Pfam Ca_hom_mod UniProtKB/Swiss-Prot
PharmGKB PA162387635 PharmGKB
UniProt CAHM5_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B2RDJ9 UniProtKB/Swiss-Prot
  B3KSR3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-07-27 CALHM5  calcium homeostasis modulator family member 5  FAM26E  family with sequence similarity 26 member E  Symbol and/or name change 5135510 APPROVED
2015-11-24 FAM26E  family with sequence similarity 26 member E    family with sequence similarity 26, member E  Symbol and/or name change 5135510 APPROVED