Gene Gene information from NCBI Gene database.
Entrez ID 85416
Gene name Zic family zinc finger 5
Gene symbol ZIC5
Synonyms (NCBI Gene)
-
Chromosome 13
Chromosome location 13q32.3
Summary This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. The encoded protein may act as a transcriptional repressor. Studies in mouse and Xenopus support a role for this gene in neural crest development. Elevated expression of this
miRNA miRNA information provided by mirtarbase database.
520
miRTarBase ID miRNA Experiments Reference
MIRT019534 hsa-miR-340-5p Sequencing 20371350
MIRT021085 hsa-miR-186-5p Sequencing 20371350
MIRT021906 hsa-miR-128-3p Sequencing 20371350
MIRT023467 hsa-miR-23b-3p Sequencing 20371350
MIRT024611 hsa-miR-215-5p Microarray 19074876
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
GO ID Ontology Definition Evidence Reference
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IEA
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 IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
617896 20322 ENSG00000139800
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96T25
Protein name Zinc finger protein ZIC 5 (Zinc finger protein of the cerebellum 5)
Protein function Essential for neural crest development, converting cells from an epidermal fate to a neural crest cell fate. Binds to DNA (By similarity).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF18366 zf_ZIC 422 453 Zic proteins zinc finger domain Domain
PF00096 zf-C2H2 491 515 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 551 575 Zinc finger, C2H2 type Domain
Sequence
MFLKAGRGNKVPPVRVYGPDCVVLMEPPLSKRNPPALRLADLATAQVQPLQNMTGFPALA
GPPAHSQLRAAVAHLRLRDLGADPGVATTPLGPEHMAQASTLGLSPPSQAFPAHPEAPAA
AARAAALVAHPGAGSYPCGGGSSGAQPSAPPPPAPPLPPTPSPPPPPPPPPPPALSGYTT
TNSGGGGSSGKGHSRDFVLRRDLSATAPAAAMHGAPLGGEQRSGTGSPQHPAPPPHSAGM
FISASGTYAGPDGSGGPALFPALHDTPGAPGGHPHPLNGQMRLGLAAAAAAAAAELYGRA
EPPFAPRSGDAHYGAVAAAAAAALHGYGAVNLNLNLAAAAAAAAAGPGPHLQHHAPPPAP
PPPPAPAQHPHQHHPHLPGAAGAFLRYMRQPIKQELICKWIDPDELAGLPPPPPPPPPPP
PPPPAGGAKPCSKTFGTMHELVNHVTVEHVGGPEQSSHVCFWEDCPREGKPFKAKYKLIN
HIRVHTGEKPFPCPFPGCGKVFARSENLKIHKRTHTGEKPFKCEFDGCDRKFANSSDRKK
HSHVHTSDKPYYCKIRGCDKSYTHPSSLRKHMKIHCKSPPPSPGPLGYSSVGTPVGAPLS
PVLDPARSHSSTLSPQVTNLNEWYVCQASGAPSHLHTPSSNGTTSETEDEEIYGNPEVVR
TIH
Sequence length 663
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEMENTIA GWAS catalog
★★☆☆☆
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
Acrania Acrania CTD_human_DG 15136147
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 29628984
★☆☆☆☆
Found in Text Mining only
Cobblestone Lissencephaly Cobblestone Lissencephaly BEFREE 29442325
★☆☆☆☆
Found in Text Mining only
Colonic Neoplasms Colonic neoplasm Pubtator 35593226 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 29024195
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 29024195, 31392276 Associate
★☆☆☆☆
Found in Text Mining only
Congenital anomaly of brain Brain malformation BEFREE 15136147
★☆☆☆☆
Found in Text Mining only
Craniorachischisis Craniorachischisis CTD_human_DG 15136147
★☆☆☆☆
Found in Text Mining only
Dandy-Walker Syndrome Dandy-Walker Syndrome BEFREE 17209130
★☆☆☆☆
Found in Text Mining only
Diastematomyelia Diastematomyelia CTD_human_DG 15136147
★☆☆☆☆
Found in Text Mining only