ZSCAN31 (zinc finger and SCAN domain containing 31)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
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
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (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 32814053
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
610794 14097 ENSG00000235109
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
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
PF02023 SCAN 35 → 124 SCAN domain Domain
PF00096 zf-C2H2 239 → 261 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 267 → 289 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 295 → 317 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
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
Gene Gene ontology Other IDs Protein Associated diseases
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)
Show/Hide Unknown Diseases (21)
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
ANOREXIA NERVOSA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations