Gene Gene information from NCBI Gene database.
Entrez ID 11198
Gene name SPT16 homolog, facilitates chromatin remodeling subunit
Gene symbol SUPT16H
Synonyms (NCBI Gene)
CDC68FACTP140NEDDFACSPT16SPT16/CDC68
Chromosome 14
Chromosome location 14q11.2
Summary Transcription of protein-coding genes can be reconstituted on naked DNA with only the general transcription factors and RNA polymerase II. However, this minimal system cannot transcribe DNA packaged into chromatin, indicating that accessory factors may fa
miRNA miRNA information provided by mirtarbase database.
635
miRTarBase ID miRNA Experiments Reference
MIRT031692 hsa-miR-16-5p Proteomics 18668040
MIRT052127 hsa-let-7b-5p CLASH 23622248
MIRT051819 hsa-let-7c-5p CLASH 23622248
MIRT050293 hsa-miR-25-3p CLASH 23622248
MIRT045114 hsa-miR-186-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0005515 Function Protein binding IPI 16902406, 19214185, 24981860, 28514442, 30021884, 32814053, 33961781, 35271311
GO:0005634 Component Nucleus IDA 9489704
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605012 11465 ENSG00000092201
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y5B9
Protein name FACT complex subunit SPT16 (Chromatin-specific transcription elongation factor 140 kDa subunit) (FACT 140 kDa subunit) (FACTp140) (Facilitates chromatin transcription complex subunit SPT16) (hSPT16)
Protein function Component of the FACT complex, a general chromatin factor that acts to reorganize nucleosomes. The FACT complex is involved in multiple processes that require DNA as a template such as mRNA elongation, DNA replication and DNA repair. During tran
PDB 4Z2M , 4Z2N , 5E5B , 5UMT , 5UMU , 5XM2 , 6UPK , 6UPL , 8I17 , 8YJF , 8YJM , 9EH2
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14826 FACT-Spt16_Nlob 5 167 FACT complex subunit SPT16 N-terminal lobe domain Domain
PF00557 Peptidase_M24 181 411 Metallopeptidase family M24 Domain
PF08644 SPT16 529 689 FACT complex subunit (SPT16/CDC68) Domain
PF08512 Rtt106 808 895 Histone chaperone Rttp106-like Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:10792464}.
Sequence
MAVTLDKDAYYRRVKRLYSNWRKGEDEYANVDAIVVSVGVDEEIVYAKSTALQTWLFGYE
LTDTIMVFCDDKIIFMASKKKVEFLKQIANTKGNENANGAPAITLLIREKNESNKSSFDK
MIEAIKESKNGKKIGVFSKDKFPGEFMKSWNDCLNKEGFDKIDISAV
VAYTIAVKEDGEL
NLMKKAASITSEVFNKFFKERVMEIVDADEKVRHSKLAESVEKAIEEKKYLAGADPSTVE
MCYPPIIQSGGNYNLKFSVVSDKNHMHFGAITCAMGIRFKSYCSNLVRTLMVDPSQEVQE
NYNFLLQLQEELLKELRHGVKICDVYNAVMDVVKKQKPELLNKITKNLGFGMGIEFREGS
LVINSKNQYKLKKGMVFSINLGFSDLTNKEGKKPEEKTYALFIGDTVLVDE
DGPATVLTS
VKKKVKNVGIFLKNEDEEEEEEEKDEAEDLLGRGSRAALLTERTRNEMTAEEKRRAHQKE
LAAQLNEEAKRRLTEQKGEQQIQKARKSNVSYKNPSLMPKEPHIREMKIYIDKKYETVIM
PVFGIATPFHIATIKNISMSVEGDYTYLRINFYCPGSALGRNEGNIFPNPEATFVKEITY
RASNIKAPGEQTVPALNLQNAFRIIKEVQKRYKTREAEEKEKEGIVKQDSLVINLNRSNP
KLKDLYIRPNIAQKRMQGSLEAHVNGFRF
TSVRGDKVDILYNNIKHALFQPCDGEMIIVL
HFHLKNAIMFGKKRHTDVQFYTEVGEITTDLGKHQHMHDRDDLYAEQMEREMRHKLKTAF
KNFIEKVEALTKEELEFEVPFRDLGFNGAPYRSTCLLQPTSSALVNATEWPPFVVTLDEV
ELIHFERVQFHLKNFDMVIVYKDYSKKVTMINAIPVASLDPIKEWLNSCDLKYTE
GVQSL
NWTKIMKTIVDDPEGFFEQGGWSFLEPEGEGSDAEEGDSESEIEDETFNPSEDDYEEEEE
DSDEDYSSEAEESDYSKESLGSEEESGKDWDELEEEARKADRESRYEEEEEQSRSMSRKR
KASVHSSGRGSNRGSRHSSAPPKKKRK
Sequence length 1047
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Formation of RNA Pol II elongation complex
RNA Polymerase II Pre-transcription Events
TP53 Regulates Transcription of DNA Repair Genes
Regulation of TP53 Activity through Phosphorylation
RNA Polymerase II Transcription Elongation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
18
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum Likely pathogenic; Pathogenic rs2139399670, rs2139402444, rs2139403510, rs2139397506, rs2503025907 RCV001563709
RCV001563710
RCV001563711
RCV002254372
RCV003596252
★★★★★
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
14Q11.2 MICRODUPLICATION SYNDROME Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma Benign 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
Agenesis of Corpus Callosum Corpus callosum agenesis Pubtator 31924697 Associate
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorders Autism Spectrum Disorder BEFREE 26834018
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 40429863 Associate
★☆☆☆☆
Found in Text Mining only
Cognition Disorders Cognition disorder Pubtator 17545556 Associate
★☆☆☆☆
Found in Text Mining only
Developmental Disabilities Developmental disability Pubtator 17545556, 31924697, 35468861 Associate
★☆☆☆☆
Found in Text Mining only
Global developmental delay Developmental Delay GENOMICS_ENGLAND_DG 106193
★☆☆☆☆
Found in Text Mining only
Global developmental delay Developmental Delay BEFREE 26834018
★☆☆☆☆
Found in Text Mining only
Intellectual Disability Mental retardation GENOMICS_ENGLAND_DG 106193
★☆☆☆☆
Found in Text Mining only
Intellectual Disability Mental retardation BEFREE 26834018
★☆☆☆☆
Found in Text Mining only
Intellectual Disability Intellectual developmental disorder Pubtator 31924697 Associate
★☆☆☆☆
Found in Text Mining only