ZSCAN10 (zinc finger and SCAN domain containing 10)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 84891
Gene name Zinc finger and SCAN domain containing 10
Gene symbol ZSCAN10
Synonyms (NCBI Gene)
OFNSZFP206ZNF206
Chromosome 16
Chromosome location 16p13.3
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (14)
GO ID Ontology Definition Evidence Reference
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
GO:0003677 Function DNA binding IEA
GO:0003700 Function DNA-binding transcription factor activity ISS
GO:0005515 Function Protein binding IPI 32296183
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
618365 12997 ENSG00000130182
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96SZ4
Protein name Zinc finger and SCAN domain-containing protein 10 (Zinc finger protein 206)
Protein function Embryonic stem (ES) cell-specific transcription factor required to maintain ES cell pluripotency. Can both activate and /or repress expression of target genes, depending on the context. Specifically binds the 5'-[GA]CGCNNGCG[CT]-3' DNA consensus
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02023 SCAN 1 → 74 SCAN domain Domain
PF00096 zf-C2H2 292 → 315 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 422 → 443 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 467 → 489 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 495 → 517 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 523 → 545 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 551 → 573 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 579 → 601 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 607 → 629 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 635 → 657 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 669 → 691 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 697 → 719 Zinc finger, C2H2 type Domain
Sequence 
MGPRASLSRLRELCGHWLRPALHTKKQILELLVLEQFLSVLPPHLLGRLQGQPLRDGEEV
VLLLEGIHREPSHAGPLDFSCNAGKSCPRADVTLEEKGCASQVPSHSPKKELPAEEPSVL
GPSDEPPRPQPRAAQPAEPGQWRLPPSSKQPLSPGPQKTFQALQESSPQGPSPWPEESSR
DQELAAVLECLTFEDVPENKAWPAHPLGFGSRTPDKEEFKQEEPKGAAWPTPILAESQAD
SPGVPGEPCAQSLGRGAAASGPGEDGSLLGSSEILEVKVAEGVPEPNPELQFICADCGVS
FPQLSRLKAHQLRSHPAGRSFLCLCCGKSFGRSSILKLHMRTHTDERPHACHLCGHRFRQ
SSHLSKHLLTHSSEPAFLCAECGRGFQRRASLVQHLLAHAQDQKPPCAPESKAEAPPLTD
VLCSHCGQSFQRRSSLKRHLRIHARDKDRRSSEGSGSRRRDSDRRPFVCSDCGKAFRRSE
HLVAHRRVHTGERPFSCQACGRSFTQSSQLVSHQRVHTGEKPYACPQCGKRFVRRASLAR
HLLTHGGPRPHHCTQCGKSFGQTQDLARHQRSHTGEKPCRCSECGEGFSQSAHLARHQRI
HTGEKPHACDTCGHRFRNSSNLARHRRSHTGERPYSCQTCGRSFRRNAHLRRHLATHAEP
GQEQAEPPQECVECGKSFSRSCNLLRHLLVHTGARPYSCTQCGRSFSRNSHLLRHLRTHA
RETLY
Sequence length 725
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Transcriptional regulation of pluripotent stem cells
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Gene Gene ontology Other IDs Protein Pathways Associated diseases
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)
Show/Hide Causal Diseases (4)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Global developmental delay Pathogenic rs756738709, rs1303325551 RCV002286871
RCV002286872
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Otofacial neurodevelopmental syndrome Pathogenic rs756738709, rs1303325551 RCV004690267
RCV004690268
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sensorineural hearing loss disorder Pathogenic rs756738709, rs1303325551 RCV002286871
RCV002286872
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ZSCAN10 Deficiency Pathogenic rs756738709, rs1303325551 RCV002286871
RCV002286872
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (1)
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
SENSORINEURAL HEARING LOSS — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations