Gene Gene information from NCBI Gene database.
Entrez ID 374879
Gene name Zinc finger protein 699
Gene symbol ZNF699
Synonyms (NCBI Gene)
DEGCAGShang
Chromosome 19
Chromosome location 19p13.2
miRNA miRNA information provided by mirtarbase database.
114
miRTarBase ID miRNA Experiments Reference
MIRT651032 hsa-miR-125a-3p HITS-CLIP 23824327
MIRT651031 hsa-miR-764 HITS-CLIP 23824327
MIRT651030 hsa-miR-3934-5p HITS-CLIP 23824327
MIRT651029 hsa-miR-186-3p HITS-CLIP 23824327
MIRT651028 hsa-miR-1224-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
10
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:0005515 Function Protein binding IPI 25416956, 32296183
GO:0005634 Component Nucleus IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609571 24750 ENSG00000196110
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q32M78
Protein name Zinc finger protein 699 (Hangover homolog)
Protein function May be involved in transcriptional regulation.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01352 KRAB 18 59 KRAB box Family
PF00096 zf-C2H2 195 217 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 279 301 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 307 329 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 335 357 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 363 385 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 391 413 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 447 469 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 475 497 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 503 525 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 531 553 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 559 581 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 587 609 Zinc finger, C2H2 type Domain
Sequence
MEEERKTAELQKNRIQDSVVFEDVAVDFTQEEWALLDLAQRNLYRDVMLENFQNLASLGY
PLHTPHLISQWEQEEDLQTVKRELIQGIFMGEHREGFETQLKTNESVASQDICGEKISNE
QKIVRFKRNDSWFSSLHENQESCGIDYQNKSHERHLRNHMVENIYECYEENQDGQTFSQV
PNLDSLKRNTEVKSCECHECGKAFVDHSSLKSHIRSHTGSKPYQCKECGKAFHFLACFKK
HMKTPTEEKPYECKECTKAFSCSSFFRAHMKIHIGKTNYECKECGKGFSCSSSLTEHKRI
H
SGDKPYECKECGKAFSCSSSLSKHKRIHSGDKPYECKECGKAFSSSSHLIIHIRIHTGE
KPYECKECGKAFSESSKLTVHGRTHTGEKPYKCKECGKAYNCPSSLSIHMRKHTGEKPYE
CLECGKAFYLPTSLNTHVKNQSREKPYECKECGKAFSCPSSFRAHVRDHTGKIQYECKEC
GKTFSRSSSLTEHLRTH
SGEKPYECKECGKAFISSSHLTVHIRTHTGEKPYECKKCGKAF
IYPSALRIHMRTH
TGEKPYECKECGKAFRHSSYLTVHARMHTGEKPFECLECGKAFSCPS
SFRRHVRSH
TGEKPYECKECGKAFVCPAYFRRHVKTHTRENI
Sequence length 642
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Generic Transcription Pathway
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
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
DEGCAGS syndrome Pathogenic rs2144976149, rs2144974768, rs1366191812, rs2144980732, rs2513397063, rs2066284895, rs2513391263 RCV001572618
RCV001572620
RCV001572621
RCV001572622
RCV002287210
RCV003335809
RCV004595131
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ZNF699-related disorder Likely pathogenic rs2513391862 RCV003406213
★★★★☆
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
ANEMIA, DIAMOND-BLACKFAN Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Diamond-Blackfan anemia Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY Disgenet, Orphanet
Disgenet, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Alcoholism Associate 35205213
★☆☆☆☆
Found in Text Mining only
Body Dysmorphic Disorders Associate 35205213
★☆☆☆☆
Found in Text Mining only
Developmental Disabilities Associate 35205213
★☆☆☆☆
Found in Text Mining only
Syndrome Associate 35205213
★☆☆☆☆
Found in Text Mining only
Urogenital Abnormalities Associate 35205213
★☆☆☆☆
Found in Text Mining only