LRRC34 (leucine rich repeat containing 34)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 151827
Gene name Leucine rich repeat containing 34
Gene symbol LRRC34
Synonyms (NCBI Gene)
-
Chromosome 3
Chromosome location 3q26.2
miRNA miRNA information provided by mirtarbase database.
13
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (13)
miRTarBase ID miRNA Experiments Reference
MIRT038798 hsa-miR-93-3p CLASH 23622248
MIRT1119562 hsa-miR-374c CLIP-seq
MIRT1119563 hsa-miR-3941 CLIP-seq
MIRT1119564 hsa-miR-4528 CLIP-seq
MIRT1119565 hsa-miR-4643 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
9
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (9)
GO ID Ontology Definition Evidence Reference
GO:0000723 Process Telomere maintenance IEA
GO:0003674 Function Molecular_function ND
GO:0005575 Component Cellular_component ND
GO:0005634 Component Nucleus IEA
GO:0005730 Component Nucleolus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
619037 28408 ENSG00000171757
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8IZ02
Protein name Leucine-rich repeat-containing protein 34
Protein function Highly expressed in stem cells where it may be involved in regulation of pluripotency. In embryonic stem cells (ESCs), important for normal expression of the pluripotency regulators POU5F1/OCT4 and KLF4. Also important for expression of the ecto
PDB 8J07
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13516 LRR_6 149 → 172 Leucine Rich repeat Repeat
PF13516 LRR_6 177 → 200 Leucine Rich repeat Repeat
PF13516 LRR_6 206 → 228 Leucine Rich repeat Repeat
PF13516 LRR_6 292 → 315 Leucine Rich repeat Repeat
PF13516 LRR_6 320 → 343 Leucine Rich repeat Repeat
PF13516 LRR_6 349 → 372 Leucine Rich repeat Repeat
Sequence 
MAAQPPRPVGERSMGSSREAARAPARSPAWASTQASTPGAALAVQRESPESGLQKHYSNL
CMEKSQKINPFILHILQEVDEEIKKGLAAGITLNIAGNNRLVPVERVTGEDFWILSKILK
NCLYINGLDVGYNLLCDVGAYYAAKLLQKQLNLIYLNLMFNDIGPEGGELIAKVLHKNRT
LKYLRMTGNKIENKGGMFFAAMLQINSSLEKLDLGDCDLGMQSVIAFATVLTQNQAIKAI
NLNRPILYSEQEESTVHVGRMLKENHCLVALHMCKHDIKNSGIQQLCDALYLNSSLRYLD
VSCNKITHDGMVYLADVLKSNTTLEVIDLSFNRIENAGANYLSETLTSHNRSLKALSVVS
NNIEGEGLVALSQSMKTNLTFSHIYIWGNKFDEATCIAYSDLIQMGCLKPDNTDVEPFVV
DGRVYLAEVSNGLKKHYYWTSTYGESYDHSSNAGFALVPVGQQP
Sequence length 464
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Joubert syndrome Uncertain significance rs1779465461 RCV001175214
Show/Hide Text Mining Associations (9)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Ciliopathies Associate 32055034
Coronary Disease Associate 24349443
Death Associate 33763035
Diabetes Mellitus Type 2 Associate 24349443
Heart Failure Associate 33763035
Lung Diseases Interstitial Associate 26792595
Neoplasms Associate 34373545
Scleroderma Systemic Associate 26792595
Thyroid Neoplasms Associate 28195142