Gene Gene information from NCBI Gene database.
Entrez ID 63897
Gene name HEAT repeat containing 6
Gene symbol HEATR6
Synonyms (NCBI Gene)
ABC1
Chromosome 17
Chromosome location 17q23.1
miRNA miRNA information provided by mirtarbase database.
102
miRTarBase ID miRNA Experiments Reference
MIRT016557 hsa-miR-193b-3p Proteomics 21512034
MIRT049537 hsa-miR-92a-3p CLASH 23622248
MIRT039759 hsa-miR-615-3p CLASH 23622248
MIRT1043287 hsa-miR-1237 CLIP-seq
MIRT1043288 hsa-miR-1248 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
1
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding HDA 22681889
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6AI08
Protein name HEAT repeat-containing protein 6 (Amplified in breast cancer protein 1)
Protein function Amplification-dependent oncogene.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13251 DUF4042 418 599 Domain of unknown function (DUF4042) Family
Tissue specificity TISSUE SPECIFICITY: Amplified in breast cancer cell lines MCF-7 and BT-474. {ECO:0000269|PubMed:11431322}.
Sequence
MAAVQVVGSWPSVQPREAPREAIPERGNGFRLLSARLCALRPDDSSSARTEIHLLFDQLI
SENYSEGSGVAPEDVSALLVQACRLVPLNQNHLVSKVSQLIHHLLNRLQVIVDEQHLDFL
LAYTISAIHQCSSWTHREILQALAALVYCNGSKCQKYLPELLGNTGLLMKLSDLAQSDPE
VRRAAVHCMANLCLSVPGQPYLEEPYQNVCFQAFLTILQSPKSSDMDDITFCMLLQNALK
GIQSLLNGGRMKLTQTDELGALLAVLKKFMFHGLPGLNIEMPTVLYPTPLPQYDGRTPIK
PQQSESSASRPTLNKKKKSKVKPKKIQQGEEEEKESSGEIEAAPVTGTGRVNLHEGNTWC
PSSLGVQSLPLDGSGAAEKDGVSSSFSSSSWKRVSSSESDFSDAEGGMQSKMRSYQAKVR
QGALVCFLSTIKSIEKKVLYGYWSAFIPDTPELGSPQSVSLMTLTLKDPSPKTRACALQV
LSAILEGSKQFLSVAEDTSDHRRAFTPFSVMIACSIRELHRCLLLALVAESSSQTVTQII
KCLANLVSNAPYDRLKLSLLTKVWNQIKPYIRHKDVNVRVSSLTLLGAIVSTHAPLPEV
Q
LLLQQPCSSGLGNSNSATPHLSPPDWWKKAPAGPSLEETSVSSPKGSSEPCWLIRLCISI
VVLPKEDSCSGSDAGSAAGSTYEPSPMRLEALQVLTLLARGYFSMTQAYLMELGEVICKC
MGEADPSIQLHGAKLLEELGTGLIQQYKPDSTAAPDQRAPVFLVVMFWTMMLNGPLPRAL
QNSEHPTLQASACDALSSILPEAFSNLPNDRQMLCITVLLGLNDSKNRLVKAATSRALGV
YVLFPCLRQDVIFVADAANAILMSLEDKSLNVRAKAAWSLGNLTDTLIVNMETPDPSFQE
EFSGLLLLKMLRSAIEASKDKDKVKSNAVRALGNLLHFLQPSHIEKPTFAEIIEESIQAL
ISTVLTEAAMKVRWNACYAMGNVFKNPALPLGTAPWTSQAYNALTSVVTSCKNFKVRIRS
AAALSVPGKREQYGSVDQYARIWNALVTALQKSEDTIDFLEFKYCVSLRTQICQALIHLL
SLASASDLPCMKETLELSGNMVQSYILQFLKSGAEGDDTGAPHSPQERDQMVRMALKHMG
SIQAPTGDTARRAIMGFLEEILAVCFDSSGSQGALPGLTNQ
Sequence length 1181
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
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
Cervical cancer Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Familial cancer of breast Uncertain significance ClinVar
★★☆☆☆
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
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 30103827
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 11221879, 11678305, 11768608, 12964942, 15900600, 18644862, 18827493, 19418218, 23670096, 23762395, 27665502, 30953646, 31045512, 31437536
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 11502741, 12964942, 23762395, 24788909, 30796653, 31045512, 31635050 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 27105488 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Lobular Lobular carcinoma Pubtator 30796653 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 29271993
★☆☆☆☆
Found in Text Mining only
Cardiovascular Diseases Cardiovascular Diseases BEFREE 10431237
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 25263446
★☆☆☆☆
Found in Text Mining only
Coronary Arteriosclerosis Coronary Arteriosclerosis BEFREE 11257260
★☆☆☆☆
Found in Text Mining only
Coronary Artery Disease Coronary artery disease BEFREE 11257260
★☆☆☆☆
Found in Text Mining only