HEATR4 (HEAT repeat containing 4)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 399671
Gene name HEAT repeat containing 4
Gene symbol HEATR4
Synonyms (NCBI Gene)
-
Chromosome 14
Chromosome location 14q24.3
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
1
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (1)
GO ID Ontology Definition Evidence Reference
GO:0016491 Function Oxidoreductase activity IBA
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
HGNC N/A HGNC
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.
Q86WZ0
Protein name HEAT repeat-containing protein 4
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02985 HEAT 530 → 559 HEAT repeat Repeat
Sequence 
MTRTQKGKTFLPHCFYQSLPPRLGWGMILNYSKLKGKEECASVSSVPMVFFSSQYRLHRK
SQYLKMAAANLTFSQEVVWQRGLPSIPYSQYSFDHLYNTNDIIHTPQIRKARPQKPVSFK
FLGSSSPLTGDTSLAVKTESSANPEKKLKKSKPASTVREAPRPLIHHPCMHPDMLGRPPS
LDVNLEEREAWLLPPEKEARAWEATVLEKLNERTARWIQSKRPRRPGASPNKWQSFLRQQ
YDWSHIRDELTSASDLELLKQLEAEETAEFEDQSVILPPQEKKKPELLLPVYYRLPSYFQ
QAETVEIMPGNKSTEDIHEKTSLSQPQTQSYFRQVTPRAGKFAYSTDNTFEQEIYFDEVQ
IIHQIGAKRDQIVLENLNRYNKQLSKVFPETPEKWSAQAIPEASYRPVQGALRWTALPTP
AKDMLLQVGEKDVPIKTRRLKKQAKSLQEDVTWELVVLRRMLKEWKTAWALIIEWHHETV
ENLLQSLGDLHDDVRIKAITTCATAALERPRIATSQRDSDKTIQDLPEVLLPALEAALCD
KNAHVRMAAAICQYAIQSHNPLARNIMQTALLKGNSVDSWAAAQCLALEGTATYPVIKRI
LHQLFTKKNEDTEEQSYILLSYLSEKTTLIHTMLAVELNSCQWKNRIVACQAFSRISGNV
CLDMKHKLIQLMWNDWNKEVRRAAAQALGQMSLGKEVHDIIRVKLGQGNSQERVEALYLI
GELKLMTAKLLPSFLHCFSDDFTAVRRAACLAAGALQIRDKMVLECLLNLMQRDPYWKIK
AFAIRALGQIGQVSPELTDLLLWAIHYEESPGVRLEACRSILALKLQGDRVRDTFLDVLL
LENHDAVLKEMYQTMKILNLGNEGNQEMLQEIKNRIKTLSQKDLLTHKILKLEMVMGKVR
EEAKRVYLKPKGEQGPLTLQTLLQETFQDEMVLPRRPSEVCDTEAVIKPVKPRAPNPWLQ
SSVPGLTTRSKVRSSLVKDLRTSPEKRIAVGPFRSDYPALYLGKFSERTFFSPIMSSPSG
KKGAHL
Sequence length 1026
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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 (1)
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
INTELLECTUAL DISABILITY — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations