Human Gene CALB2 (ENST00000302628.9) from GENCODE V44
  Description: Homo sapiens calbindin 2 (CALB2), transcript variant CALB2b, non-coding RNA. (from RefSeq NR_027910)
RefSeq Summary (NM_001740): This gene encodes an intracellular calcium-binding protein belonging to the troponin C superfamily. Members of this protein family have six EF-hand domains which bind calcium. This protein plays a role in diverse cellular functions, including message targeting and intracellular calcium buffering. It also functions as a modulator of neuronal excitability, and is a diagnostic marker for some human diseases, including Hirschsprung disease and some cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010].
Gencode Transcript: ENST00000302628.9
Gencode Gene: ENSG00000172137.19
Transcript (Including UTRs)
   Position: hg38 chr16:71,358,723-71,390,433 Size: 31,711 Total Exon Count: 11 Strand: +
Coding Region
   Position: hg38 chr16:71,358,793-71,389,865 Size: 31,073 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:71,358,723-71,390,433)mRNA (may differ from genome)Protein (271 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCLynxMalacardsMGIneXtProtOMIM
PubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CALB2_HUMAN
DESCRIPTION: RecName: Full=Calretinin; Short=CR; AltName: Full=29 kDa calbindin;
FUNCTION: Calretinin is a calcium-binding protein which is abundant in auditory neurons.
TISSUE SPECIFICITY: Brain.
SIMILARITY: Belongs to the calbindin family.
SIMILARITY: Contains 6 EF-hand domains.
WEB RESOURCE: Name=Wikipedia; Note=Calbindin entry; URL="http://en.wikipedia.org/wiki/Calbindin";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: CALB2
Diseases sorted by gene-association score: adenomatoid tumor (15), adenofibroma (15), sex cord-gonadal stromal tumor (15), sertoli cell tumor (13), sertoli-leydig cell tumor (11), malignant pleural mesothelioma (8), ovarian serous cystadenofibroma (7), lymphohistiocytoid mesothelioma (6), benign mesothelioma (6), pseudo-meigs syndrome (6), mesothelioma, somatic (5), ovarian cancer, somatic (5), cystadenofibroma (4), malignant biphasic mesothelioma (4), clear cell cystadenofibroma (4), ovarian fibrothecoma (4), ovarian serous adenofibroma (4), colon adenocarcinoma (4), gynandroblastoma (4), fibroma (3), ovarian serous carcinoma (3), sarcoma, synovial (3), liposarcoma (3), status epilepticus (3), thymus cancer (3), fallopian tube endometrioid adenocarcinoma (3), synucleinopathy (3), mucinous bronchioloalveolar adenocarcinoma (3), rete testis adenoma (3), lung cancer susceptibility 3 (2), fallopian tube carcinosarcoma (2), horseshoe kidney (2), papillary thymic adenocarcinoma (2), keratocystic odontogenic tumor (2), cervix endometriosis (2), fallopian tube adenocarcinoma (2), wilms tumor susceptibility-5 (2), pleural cancer (2), inverted follicular keratosis (2), deafness, autosomal recessive 89 (2), reproductive organ benign neoplasm (2), large cell carcinoma with rhabdoid phenotype (2), pericardium cancer (2), ovarian melanoma (2), malignant epithelial mesothelioma (2), schizophrenia (2), pericardial mesothelioma (1), rete testis neoplasm (1), venous hemangioma (1), mucinous ovarian cystadenoma (1), rete testis adenocarcinoma (1), hirschsprung disease 1 (1), bile duct cystadenocarcinoma (1), spermatocele (1), neurogenic bowel (1), pneumatosis cystoides intestinalis (1), pancreatic mucinous cystadenoma (1), spindle cell liposarcoma (1), clear cell adenofibroma (1), functional colonic disease (1), proliferative fasciitis (1), colonic pseudo-obstruction (1), ovarian brenner tumor (1), mixed ductal-endocrine carcinoma (1), malignant leydig cell tumor (1), pleomorphic lipoma (1), lung sarcoma (1), dysgerminoma of ovary (1), amyotrophic lateral sclerosis 1 (1), retinitis pigmentosa (0)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 172.70 RPKM in Brain - Hypothalamus
Total median expression: 727.06 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -36.3070-0.519 Picture PostScript Text
3' UTR -197.40568-0.348 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011992 - EF-hand-like_dom
IPR018247 - EF_Hand_1_Ca_BS
IPR018249 - EF_HAND_2
IPR002048 - EF_hand_Ca-bd

ModBase Predicted Comparative 3D Structure on P22676
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005509 calcium ion binding
GO:0046872 metal ion binding

Biological Process:
GO:0051480 regulation of cytosolic calcium ion concentration

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005921 gap junction
GO:0043005 neuron projection
GO:0045202 synapse


-  Descriptions from all associated GenBank mRNAs
  JD336564 - Sequence 317588 from Patent EP1572962.
AK291096 - Homo sapiens cDNA FLJ77118 complete cds, highly similar to Homo sapiens calbindin 2, 29kDa (calretinin) (CALB2), transcript variant CALB2, mRNA.
AK222495 - Homo sapiens mRNA for calbindin 2 full length protein isoform variant, clone: adKA03490.
AK222648 - Homo sapiens mRNA for calbindin 2 full length protein isoform variant, clone: CBL05474.
HM005548 - Homo sapiens clone HTL-S-8 testicular secretory protein Li 8 mRNA, complete cds.
JD230164 - Sequence 211188 from Patent EP1572962.
JD269787 - Sequence 250811 from Patent EP1572962.
BC015484 - Homo sapiens calbindin 2, mRNA (cDNA clone MGC:8907 IMAGE:3847342), complete cds.
X56667 - Human mRNA for calretinin.
JD107866 - Sequence 88890 from Patent EP1572962.
JD465087 - Sequence 446111 from Patent EP1572962.
JD218357 - Sequence 199381 from Patent EP1572962.
JD400288 - Sequence 381312 from Patent EP1572962.
JD123292 - Sequence 104316 from Patent EP1572962.
JD505002 - Sequence 486026 from Patent EP1572962.
JD105423 - Sequence 86447 from Patent EP1572962.
JD346922 - Sequence 327946 from Patent EP1572962.
JD097361 - Sequence 78385 from Patent EP1572962.
JD188010 - Sequence 169034 from Patent EP1572962.
JD411015 - Sequence 392039 from Patent EP1572962.
JD253278 - Sequence 234302 from Patent EP1572962.
JD389208 - Sequence 370232 from Patent EP1572962.
JD384822 - Sequence 365846 from Patent EP1572962.
JD489485 - Sequence 470509 from Patent EP1572962.
JD365833 - Sequence 346857 from Patent EP1572962.
JD298479 - Sequence 279503 from Patent EP1572962.
JD502233 - Sequence 483257 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A8K4Y1, CAB29, CALB2_HUMAN, ENST00000302628.1, ENST00000302628.2, ENST00000302628.3, ENST00000302628.4, ENST00000302628.5, ENST00000302628.6, ENST00000302628.7, ENST00000302628.8, NR_027910, P22676, Q53HD2, Q96BK4, uc002faa.1, uc002faa.2, uc002faa.3, uc002faa.4, uc002faa.5, uc002faa.6, uc002faa.7
UCSC ID: ENST00000302628.9
RefSeq Accession: NM_001740
Protein: P22676 (aka CALB2_HUMAN or CLB2_HUMAN)
CCDS: CCDS10899.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.