NLRP14 (NLR family pyrin domain containing 14)

Download as csv Download as pdf
Log in to bookmark this gene

Bookmark This Gene

Gene Gene information from NCBI Gene database.
Download as csvDownload as pdf
Entrez ID 338323
Gene name NLR family pyrin domain containing 14
Gene symbol NLRP14
Synonyms (NCBI Gene)
CLR11.2GC-LRRNALP14NOD5PAN8
Chromosome 11
Chromosome location 11p15.4
Summary The protein encoded by this gene belongs to the NALP protein family. Members of the NALP protein family typically contain a NACHT domain, a NACHT-associated domain (NAD), a C-terminal leucine-rich repeat (LRR) region, and an N-terminal pyrin domain (PYD).
miRNA miRNA information provided by mirtarbase database.
6 Show/Hide all (6)
Download as csvDownload as pdf
miRTarBase ID miRNA Experiments Reference
MIRT018844 hsa-miR-335-5p Microarray 18185580
MIRT1187258 hsa-miR-3200-5p CLIP-seq
MIRT1187259 hsa-miR-3660 CLIP-seq
MIRT1187260 hsa-miR-3919 CLIP-seq
MIRT1187261 hsa-miR-4526 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
8 Show/Hide all (8)
Download as csvDownload as pdf
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0005524 Function ATP binding IEA
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IEA
GO:0007283 Process Spermatogenesis IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Download as csvDownload as pdf
MIM HGNC e!Ensembl
609665 22939 ENSG00000158077
Protein Protein information from UniProt database.
Download as csvDownload as pdf
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q86W24
Protein name NACHT, LRR and PYD domains-containing protein 14 (Nucleotide-binding oligomerization domain protein 5)
Protein function May be involved in inflammation and spermatogenesis.
PDB 4N1J , 4N1K , 4N1L
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02758 PYRIN 14 → 89 PAAD/DAPIN/Pyrin domain Domain
PF05729 NACHT 177 → 346 NACHT domain Domain
PF13516 LRR_6 898 → 921 Leucine Rich repeat Repeat
PF13516 LRR_6 955 → 978 Leucine Rich repeat Repeat
PF13516 LRR_6 727 → 750 Leucine Rich repeat Repeat
PF13516 LRR_6 841 → 864 Leucine Rich repeat Repeat
PF17776 NLRC4_HD2 480 → 597 NLRC4 helical domain HD2 Domain
PF17779 NOD2_WH 422 → 478 NOD2 winged helix domain Domain
Tissue specificity TISSUE SPECIFICITY: Testis-specific. {ECO:0000269|PubMed:16931801}.
Sequence 
MADSSSSSFFPDFGLLLYLEELNKEELNTFKLFLKETMEPEHGLTPWNEVKKARREDLAN
LMKKYYPGEKAWSVSLKIFGKMNLKDLCERAKEEINWSAQTIGPDDAKAGETQEDQEAVL
GDGTEYRNRIKEKFCITWDKKSLAGKPEDFHHGIAEKDRKLLEHLFDVDVKTGAQPQIVV
LQGAAGVGKTTLVRKAMLDWAEGSLYQQRFKYVFYLNGREINQLKERSFAQLISKDWPST
EGPIEEIMYQPSSLLFIIDSFDELNFAFEEPEFALCEDWTQEHPVSFLMSSLLRKVMLPE
ASLLVTTRLTTSKRLKQLLKNHHYVELLGMSEDAREEYIYQFFEDKRWAMKVFSSLKSNE
MLFSMCQVPLVCWAACTCLKQQMEKGGDVTLTCQTTTALFTCYISSLFTPVDGGSPSLPN
QAQLRRLCQVAAKGIWTMTYVFYRENLRRLGLTQSDVSSFMDSNIIQKDAEYENCYVFTH
LHVQEFFAAMFYMLKGSWEAGNPSCQPFEDLKSLLQSTSYKDPHLTQMKCFLFGLLNEDR
VKQLERTFNCKMSLKIKSKLLQCMEVLGNSDYSPSQLGFLELFHCLYETQDKAFISQAMR
CFPKVAINICEKIHLLVSSFCLKHCRCLRTIRLSVTVVFEKKILKTSLPTNTWDGDRITH
CWQDLCSVLHTNEHLRELDLYHSNLDKSAMNILHHELRHPNCKLQKLLLKFITFPDGCQD
ISTSLIHNKNLMHLDLKGSDIGDNGVKSLCEALKHPECKLQTLRLESCNLTVFCCLNISN
ALIRSQSLIFLNLSTNNLLDDGVQLLCEALRHPKCYLERLSLESCGLTEAGCEYLSLALI
SNKRLTHLCLADNVLGDGGVKLMSDALQHAQCTLKSLVLRRCHFTSLSSEYLSTSLLHNK
SLTHLDLGSNWLQDNGVKLLCDVFRHPSCNLQDLELMGCVLTNACCLDLASVILNNPNLR
SLDLGNNDLQDDGVKILCDALRYPNCNIQRLGLEYCGLTSLCCQDLSSALICNKRLIKMN
LTQNTLGYEGIVKLYKVLKSPKCKLQVLGLCKEAFDEEAQKLLEAVGVSNPHLIIKPDCN
YHNEEDVSWWWCF
Sequence length 1093
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Download as csvDownload as pdf
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Reference Evidence Score
Acute myeloid leukemia Likely benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NLRP14-related disorder Benign; Likely benign; Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Spermatogenic Failure Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (6)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Azoospermia Azoospermia BEFREE 16931801
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer UNIPROT_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Mucocutaneous Lymph Node Syndrome Kawasaki disease BEFREE 28855716
★★★★★
★☆☆☆☆
Found in Text Mining only
Oligospermia Oligospermia BEFREE 16931801
★★★★★
★☆☆☆☆
Found in Text Mining only
Prostatic Neoplasms Prostatic neoplasm Pubtator 33197890 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Stomach Neoplasms Stomach neoplasms Pubtator 32034058 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only

No strongly related genes found yet for NLRP14.

No additional diseases found yet through genes similar to NLRP14.