QuickView for TNRC22 (gene)

Gene Symbol:

JPH3 Homo sapiens

Full name:

junctophilin 3

Synonyms:

CAGL237, HDL2, JP-3, JP3, TNRC22, junctophilin-3, junctophilin type 3, trinucleotide repeat containing 22

Genomic Location:

Chr 16: 86194000-86289263

Description:

Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the ...

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Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for the plasma membrane. CAG/CTG repeat expansion from normally 6-28 repeats to 40-59 repeats in the 3' UTR of this gene have been associated with Huntington disease-like 2 (HDL2). This gene is a member of the junctophilin gene family. Alternatively spliced transcript variants have been described for this gene.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Gallus gallus ,  Pan troglodytes ,  Canis lupus familiaris ,  Bos taurus ,  Danio rerio

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

FOXO1_02 ,  RYTTCCTG_ETS2_B ,  TGGNNNNNNKCCAR_UNKNOWN ,  AAAGGGA_MIR204_MIR211 ,  E4BP4_01 ,  MYB_Q5_01 ,  TTAYRTAA_E4BP4_01 ,  GGGAGGRR_MAZ_Q6 ,  STAT_Q6 ,  TFIII_Q6 ,  CAGGTG_E12_Q6 ,  TGCACTG_MIR148A_MIR152_MIR148B ,  E47_02 ,  LHX3_01 ,  NKX62_Q2 ,  ATTCTTT_MIR186 ,  OCT1_03 ,  S8_01 ,  MYB_Q6 ,  HLF_01 ,  MTF1_Q4 ,  TAATTA_CHX10_01 ,  TTGTTT_FOXO4_01 ,  CART1_01 ,  AFP1_Q6 ,  TGCTTTG_MIR330 ,  ACCTGTTG_UNKNOWN ,  NFKB_C ,  FOXO4_02

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miRNA binding sites
(Source: TargetScan):

Predicted Gene Targets for miR-148 ,  Predicted Gene Targets for miR-186 ,  Predicted Gene Targets for miR-199 ,  Predicted Gene Targets for miR-204 ,  Predicted Gene Targets for miR-330

Cytogenetic Map:

16q24.2

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