Gene Gene information from NCBI Gene database.
Entrez ID 121599
Gene name Spi-C transcription factor
Gene symbol SPIC
Synonyms (NCBI Gene)
SPI-C
Chromosome 12
Chromosome location 12q23.2
Summary The protein encoded by this gene regulates the development of red pulp macrophages, which are necessary for iron homeostasis and the recycling of red blood cells. [provided by RefSeq, Aug 2016]
miRNA miRNA information provided by mirtarbase database.
89
miRTarBase ID miRNA Experiments Reference
MIRT018368 hsa-miR-335-5p Microarray 18185580
MIRT678022 hsa-miR-562 HITS-CLIP 23824327
MIRT678021 hsa-miR-5697 HITS-CLIP 23824327
MIRT678020 hsa-miR-6814-5p HITS-CLIP 23824327
MIRT678019 hsa-miR-4722-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
17
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IEA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
GO:0001228 Function DNA-binding transcription activator activity, RNA polymerase II-specific IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612568 29549 ENSG00000166211
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8N5J4
Protein name Transcription factor Spi-C
Protein function Controls the development of red pulp macrophages required for red blood cells recycling and iron homeostasis. Transcription factor that binds to the PU-box, a purine-rich DNA sequence (5'-GAGGA[AT]-3') that can act as a lymphoid-specific enhance
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00178 Ets 112 194 Ets-domain Domain
Tissue specificity TISSUE SPECIFICITY: Preferentially detected in fetal and adult spleen, lymph nodes and at lower levels in bone marrow and fetal liver. {ECO:0000269|PubMed:12459275}.
Sequence
MTCVEQDKLGQAFEDAFEVLRQHSTGDLQYSPDYRNYLALINHRPHVKGNSSCYGVLPTE
EPVYNWRTVINSAADFYFEGNIHQSLQNITENQLVQPTLLQQKGGKGRKKLRLFEYLHES
LYNPEMASCIQWVDKTKGIFQFVSKNKEKLAELWGKRKGNRKTMTYQKMARALRNYGRSG
EITKIRRKLTYQFS
EAILQRLSPSYFLGKEIFYSQCVQPDQEYLSLNNWNANYNYTYANY
HELNHHDC
Sequence length 248
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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 Evidence Score
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Colitis Colitis BEFREE 30061415
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 21318373
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus BEFREE 31143160
★☆☆☆☆
Found in Text Mining only