Gene Gene information from NCBI Gene database.
Entrez ID 349075
Gene name Zinc finger protein 713
Gene symbol ZNF713
Synonyms (NCBI Gene)
-
Chromosome 7
Chromosome location 7p11.2
Summary The protein encoded by this gene contains C2H2 zinc finger domains. In some individuals, a CGG-repeat expansion from 5-22 repeats to 68-450 repeats has been identified in the first intron of this gene. This mutation is thought to effect the expression of
miRNA miRNA information provided by mirtarbase database.
267
miRTarBase ID miRNA Experiments Reference
MIRT617968 hsa-miR-561-3p HITS-CLIP 23824327
MIRT617967 hsa-miR-3144-3p HITS-CLIP 23824327
MIRT617966 hsa-miR-4668-5p HITS-CLIP 23824327
MIRT617968 hsa-miR-561-3p HITS-CLIP 23824327
MIRT617967 hsa-miR-3144-3p 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:0005634 Component Nucleus IEA
GO:0006355 Process Regulation of DNA-templated transcription IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616181 22043 ENSG00000178665
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8N859
Protein name Zinc finger protein 713
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 273 295 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 301 323 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 329 351 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 357 379 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 385 407 Zinc finger, C2H2 type Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in fetal and adult brain. {ECO:0000269|PubMed:25196122}.
Sequence
MEEEEMNDGSQMVRSQESLTFQDVAVDFTREEWDQLYPAQKNLYRDVMLENYRNLVALGY
QLCKPEVIAQLELEEEWVIERDSLLDTHPDGENRPEIKKSTTSQNISDENQTHEMIMERL
AGDSFWYSILGGLWDFDYHPEFNQENHKRYLGQVTLTHKKITQERSLECNKFAENCNLNS
NLMQQRIPSIKIPLNSDTQGNSIKHNSDLIYYQGNYVRETPYEYSECGKIFNQHILLTDH
IHTAEKPSECGKAFSHTSSLSQPQMLLTGEKPYKCDECGKRFSQRIHLIQHQRIHTGEKP
FICNGCGKAFRQHSSFTQHLRIHTGEKPYKCNQCGKAFSRITSLTEHHRLHTGEKPYECG
FCGKAFSQRTHLNQHERTH
TGEKPYKCNECGKAFSQSAHLNQHRKIHTREKLCEYKCEQT
VRHSPSFSST
Sequence length 430
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
AUTISM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Crohn Disease Associate 32581322
★☆☆☆☆
Found in Text Mining only