IQCN (IQ motif containing N)

Gene
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
80726
Gene name Gene Name - the full gene name approved by the HGNC.
IQ motif containing N
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
IQCN
Synonyms (NCBI Gene) Gene synonyms aliases
KIAA1683, SPGF78
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19p13.11
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all(5)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 16189514, 25416956, 33961781
GO:0005634 Component Nucleus HDA 21630459
GO:0005739 Component Mitochondrion IDA
GO:0007286 Process Spermatid development IEA
GO:0007286 Process Spermatid development IMP 36321563
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
620160 29350 ENSG00000130518
Protein
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Q9H0B3
Protein name IQ domain-containing protein N
Protein function Essential for spermiogenesis and fertilization (PubMed:36321563). May be required for manchette assembly in elongating spermatids (By similarity).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00612 IQ 104 → 124 IQ calmodulin-binding motif Motif
PF00612 IQ 928 → 947 IQ calmodulin-binding motif Motif
PF00612 IQ 950 → 969 IQ calmodulin-binding motif Motif
PF00612 IQ 974 → 992 IQ calmodulin-binding motif Motif
PF00612 IQ 1114 → 1134 IQ calmodulin-binding motif Motif
PF00612 IQ 1137 → 1157 IQ calmodulin-binding motif Motif
Sequence 
MTLQGRADLSGNQGNAAGRLATVHEPVVTQWAVHPPAPAHPSLLDKMEKAPPQPQHEGLK
SKEHLPQQPAEGKTASRRVPRLRAVVESQAFKNILVDEMDMMHARAATLIQANWRGYWLR
QKLISQMMAAKAIQEAWRRFNKRHILHSSKSLVKKTRAEEGDIPYHAPQQVRFQHPEENR
LLSPPIMVNKETQFPSCDNLVLCRPQSSPLLQPPAAQGTPEPCVQGPHAARVRGLAFLPH
QTVTIRFPCPVSLDAKCQPCLLTRTIRSTCLVHIEGDSVKTKRVSARTNKARAPETPLSR
RYDQAVTRPSRAQTQGPVKAETPKAPFQICPGPMITKTLLQTYPVVSVTLPQTYPASTMT
TTPPKTSPVPKVTIIKTPAQMYPGPTVTKTAPHTCPMPTMTKIQVHPTASRTGTPRQTCP
ATITAKNRPQVSLLASIMKSLPQVCPGPAMAKTPPQMHPVTTPAKNPLQTCLSATMSKTS
SQRSPVGVTKPSPQTRLPAMITKTPAQLRSVATILKTLCLASPTVANVKAPPQVAVAAGT
PNTSGSIHENPPKAKATVNVKQAAKVVKASSPSYLAEGKIRCLAQPHPGTGVPRAAAELP
LEAEKIKTGTQKQAKTDMAFKTSVAVEMAGAPSWTKVAEEGDKPPHVYVPVDMAVTLPRG
QLAAPLTNASSQRHPPCLSQRPLAAPLTKASSQGHLPTELTKTPSLAHLDTCLSKMHSQT
HLATGAVKVQSQAPLATCLTKTQSRGQPITDITTCLIPAHQAADLSSNTHSQVLLTGSKV
SNHACQRLGGLSAPPWAKPEDRQTQPQPHGHVPGKTTQGGPCPAACEVQGMLVPPMAPTG
HSTCNVESWGDNGATRAQPSMPGQAVPCQEDTGPADAGVVGGQSWNRAWEPARGAASWDT
WRNKAVVPPRRSGEPMVSMQAAEEIRILAVITIQAGVRGYLARRRIRLWHRGAMVIQATW
RGYRVRRNLAHLCRATTTIQSAWRGYSTRRDQARHWQMLHPVTWVELGSRAGVMSDRSWF
QDGRARTVSDHRCFQSCQAHACSVCHSLSSRIGSPPSVVMLVGSSPRTCHTCGRTQPTRV
VQGMGQGTEGPGAVSWASAYQLAALSPRQPHRQDKAATAIQSAWRGFKIRQQMRQQQMAA
KIVQATWRGHHTRSCLKNTEALLGPADPSASSRHMHWPGI
Sequence length 1180
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Hypothyroidism Hypothyroidism N/A N/A GWAS
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Systemic lupus erythematosus Systemic lupus erythematosus N/A N/A GWAS