ZSCAN31 (zinc finger and SCAN domain containing 31)

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Gene Gene information from NCBI Gene database.
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Entrez ID 64288
Gene name Zinc finger and SCAN domain containing 31
Gene symbol ZSCAN31
Synonyms (NCBI Gene)
ZNF20-LpZNF310PZNF323
Chromosome 6
Chromosome location 6p22.1|6p22.3-p22.1
Summary This gene encodes a protein containing multiple C2H2-type zinc finger motifs. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
10 Show/Hide all (10)
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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 32814053
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
610794 14097 ENSG00000235109
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96LW9
Protein name Zinc finger and SCAN domain-containing protein 31 (Zinc finger protein 323)
Protein function May function as a transcription factor. May be involved in the development of multiple embryonic organs.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00096 zf-C2H2 267 → 289 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 295 → 317 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 239 → 261 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 351 → 373 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 379 → 401 Zinc finger, C2H2 type Domain
PF02023 SCAN 35 → 124 SCAN domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed at high levels in the lung, liver, and kidney, while weakly expressed in intestine, brain, muscle, cholecyst, heart, and pancreas. {ECO:0000269|PubMed:12147252}.
Sequence 
MASTEEQYDLKIVKVEEDPIWDQETHLRGNNFSGQEASRQLFRQFCYQETPGPREALSRL
RELCHQWLRPEIHTKEQILELLVLEQFLTILPEELQAWVREHHPESGEEAVAVVEDLEQE
LSEPGNQAPDHEHGHSEVLLEDVEHLKVKQEPTDIQLQPMVTQLRYESFCLHQFQEQDGE
SIPENQELASKQEILKEMEHLGDSKLQRDVSLDSKYRETCKRDSKAEKQQAHSTGERRHR
CNECGKSFTKSSVLIEHQRIHTGEKPYECEECGKAFSRRSSLNEHRRSHTGEKPYQCKEC
GKAFSASNGLTRHRRIHTGEKPYECKVCGKAFLLSSCLVQHQRIHTGEKRYQCRECGKAF
IQNAGLFQHLRVHTGEKPYQCSQCSKLFSKRTLLKKHQKIHTGERP
Sequence length 406
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
21
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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.
Show/Hide Unknown Diseases (21)
Phenotype Name Clinical Significance Source Reference Evidence Score
ANOREXIA NERVOSA — GWAS catalog 31835028
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA — GWAS catalog 36344522
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER — GWAS catalog 31835028
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER — GWAS catalog 31835028
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER — GWAS catalog 31835028
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
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NPAS3 6 shared diseasesAnorexia nervosa, Tourette syndrome, Non-organic psychosis, Obsessive-compulsive disorder, Psychotic disorders, Upper aerodigestive tract neoplasm 6 shared evidence sourcesGWAS catalog (Anorexia nervosa), Disgenet (Non-organic psychosis), GWAS catalog (Obsessive-compulsive disorder), Disgenet (Psychotic disorders), GWAS catalog (Tourette syndrome), GWAS catalog (Upper aerodigestive tract neoplasm) Related via 6 shared diseases including Anorexia nervosa, Tourette syndrome — evidence mostly GWAS catalog. OSBPL3 4 shared diseasesAnorexia nervosa, Dental caries, Tourette syndrome, Obsessive-compulsive disorder 4 shared evidence sourcesGWAS catalog (Anorexia nervosa), GWAS catalog (Dental caries), GWAS catalog (Obsessive-compulsive disorder), GWAS catalog (Tourette syndrome) Related via 4 shared diseases including Anorexia nervosa, Dental caries — evidence mostly GWAS catalog. TMEM219 4 shared diseasesAnorexia nervosa, Dental caries, Tourette syndrome, Obsessive-compulsive disorder 4 shared evidence sourcesGWAS catalog (Anorexia nervosa), GWAS catalog (Dental caries), GWAS catalog (Obsessive-compulsive disorder), GWAS catalog (Tourette syndrome) Related via 4 shared diseases including Anorexia nervosa, Dental caries — evidence mostly GWAS catalog. TSNARE1 4 shared diseasesAnorexia nervosa, Gastroesophageal reflux disease, Tourette syndrome, Obsessive-compulsive disorder 4 shared evidence sourcesGWAS catalog (Anorexia nervosa), GWAS catalog (Gastroesophageal reflux disease), GWAS catalog (Obsessive-compulsive disorder), GWAS catalog (Tourette syndrome) Related via 4 shared diseases including Anorexia nervosa, Gastroesophageal reflux disease — evidence mostly GWAS catalog. ZNF322 4 shared diseasesAnorexia nervosa, Dental caries, Obsessive-compulsive disorder, Upper aerodigestive tract neoplasm 4 shared evidence sourcesGWAS catalog (Anorexia nervosa), GWAS catalog (Dental caries), GWAS catalog (Obsessive-compulsive disorder), GWAS catalog (Upper aerodigestive tract neoplasm) Related via 4 shared diseases including Anorexia nervosa, Dental caries — evidence mostly GWAS catalog.
Obesity Linked via 4 of 5 related genesNPAS3, TMEM219, TSNARE1, ZNF322 Diabetes mellitus type 2 Linked via 4 of 5 related genesNPAS3, TMEM219, TSNARE1, ZNF322 Insomnia Linked via 3 of 5 related genesNPAS3, TMEM219, ZNF322 Metabolic syndrome Linked via 3 of 5 related genesNPAS3, TSNARE1, ZNF322 Obstructive pulmonary disease Linked via 2 of 5 related genesNPAS3, TMEM219