Gene Gene information from NCBI Gene database.
Entrez ID 7586
Gene name Zinc finger with KRAB and SCAN domains 1
Gene symbol ZKSCAN1
Synonyms (NCBI Gene)
KOX18PHZ-37ZNF139ZNF36ZSCAN33
Chromosome 7
Chromosome location 7q22.1
Summary This gene encodes a member of the Kruppel C2H2-type zinc-finger family of proteins. This encoded protein may function as a transcription factor that regulates the expression of GABA type-A receptors in the brain. Transcripts from this gene have been shown
miRNA miRNA information provided by mirtarbase database.
1337
miRTarBase ID miRNA Experiments Reference
MIRT665264 hsa-miR-6513-3p HITS-CLIP 23824327
MIRT639834 hsa-miR-4716-5p HITS-CLIP 23824327
MIRT639833 hsa-miR-4485-5p HITS-CLIP 23824327
MIRT639832 hsa-miR-1281 HITS-CLIP 23824327
MIRT639830 hsa-miR-2116-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11
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, 28514442, 31515488, 32296183, 32814053, 33961781
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601260 13101 ENSG00000106261
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P17029
Protein name Zinc finger protein with KRAB and SCAN domains 1 (Zinc finger protein 139) (Zinc finger protein 36) (Zinc finger protein KOX18)
Protein function May be involved in transcriptional regulation.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02023 SCAN 52 141 SCAN domain Domain
PF01352 KRAB 226 266 KRAB box Family
PF00096 zf-C2H2 377 399 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 405 427 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 433 455 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 461 483 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 489 511 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 517 539 Zinc finger, C2H2 type Domain
Sequence
MMTAESREATGLSPQAAQEKDGIVIVKVEEEDEEDHMWGQDSTLQDTPPPDPEIFRQRFR
RFCYQNTFGPREALSRLKELCHQWLRPEINTKEQILELLVLEQFLSILPKELQVWLQEYR
PDSGEEAVTLLEDLELDLSGQ
QVPGQVHGPEMLARGMVPLDPVQESSSFDLHHEATQSHF
KHSSRKPRLLQSRALPAAHIPAPPHEGSPRDQAMASALFTADSQAMVKIEDMAVSLILEE
WGCQNLARRNLSRDNRQENYGSAFPQ
GGENRNENEESTSKAETSEDSASRGETTGRSQKE
FGEKRDQEGKTGERQQKNPEEKTRKEKRDSGPAIGKDKKTITGERGPREKGKGLGRSFSL
SSNFTTPEEVPTGTKSHRCDECGKCFTRSSSLIRHKIIHTGEKPYECSECGKAFSLNSNL
VLHQRIH
TGEKPHECNECGKAFSHSSNLILHQRIHSGEKPYECNECGKAFSQSSDLTKHQ
RIH
TGEKPYECSECGKAFNRNSYLILHRRIHTREKPYKCTKCGKAFTRSSTLTLHHRIHA
RERASEYSPASLDAFGAFLKSCV
Sequence length 563
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.).
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
CHRONIC OBSTRUCTIVE PULMONARY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
IDIOPATHIC PULMONARY FIBROSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Intellectual disability Uncertain significance ClinVar
Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Bladder Neoplasm Bladder Neoplasm BEFREE 31481066
★☆☆☆☆
Found in Text Mining only
Carcinoma of bladder Bladder carcinoma BEFREE 31481066
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 35285410 Associate
★☆☆☆☆
Found in Text Mining only
Chronic Obstructive Airway Disease Chronic Obstructive Pulmonary Disease GWASCAT_DG 30804561
★☆☆☆☆
Found in Text Mining only
Cirrhosis Cirrhosis BEFREE 28211215
★☆☆☆☆
Found in Text Mining only
Hematologic Neoplasms Hematologic Neoplasms BEFREE 7557990
★☆☆☆☆
Found in Text Mining only
Liver carcinoma Liver carcinoma BEFREE 28211215, 31219565
★☆☆☆☆
Found in Text Mining only
Liver Cirrhosis Liver Cirrhosis BEFREE 28211215
★☆☆☆☆
Found in Text Mining only
Lung Diseases, Interstitial Lung Diseases GWASDB_DG 23583980
★☆☆☆☆
Found in Text Mining only
Lymphatic Metastasis Lymphatic metastasis Pubtator 25561801 Stimulate
★☆☆☆☆
Found in Text Mining only