Gene Gene information from NCBI Gene database.
Entrez ID 283987
Gene name HID1 domain containing
Gene symbol HID1
Synonyms (NCBI Gene)
17orf28C17orf28DEE105DMC1HID-1
Chromosome 17
Chromosome location 17q25.1
miRNA miRNA information provided by mirtarbase database.
23
miRTarBase ID miRNA Experiments Reference
MIRT019203 hsa-miR-335-5p Microarray 18185580
MIRT624135 hsa-miR-5580-3p HITS-CLIP 23824327
MIRT624134 hsa-miR-188-5p HITS-CLIP 23824327
MIRT624133 hsa-miR-6866-3p HITS-CLIP 23824327
MIRT624132 hsa-miR-345-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20
GO ID Ontology Definition Evidence Reference
GO:0000138 Component Golgi trans cisterna IBA
GO:0000138 Component Golgi trans cisterna IDA 21337012
GO:0000139 Component Golgi membrane IEA
GO:0005515 Function Protein binding IPI 20368287, 25416956, 32296183, 32814053
GO:0005737 Component Cytoplasm IDA 21337012
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605752 15736 ENSG00000167861
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8IV36
Protein name Protein HID1 (Down-regulated in multiple cancers 1) (HID1 domain-containing protein) (Protein hid-1 homolog)
Protein function May play an important role in the development of cancers in a broad range of tissues.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12722 Hid1 1 785 High-temperature-induced dauer-formation protein Family
Tissue specificity TISSUE SPECIFICITY: Expressed in heart, skeletal muscle, colon, spleen, kidney, liver, small intestine and lung. Highest expression is seen in brain and placenta. Loss of expression is seen in some breast, cervical, hepatocellular, lung, thyroid, gastric
Sequence
Sequence length 788
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Developmental and epileptic encephalopathy 105 with hypopituitarism Pathogenic rs994473385, rs2039300041, rs2039494684 RCV002274871
RCV002274872
RCV002274873
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Atrophy Atrophy Pubtator 33999436 Associate
★☆☆☆☆
Found in Text Mining only
Azoospermia Azoospermia Pubtator 35172124 Associate
★☆☆☆☆
Found in Text Mining only
Bloom Syndrome Bloom Syndrome BEFREE 10652259
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 39456830 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Squamous Cell Squamous cell carcinoma Pubtator 40179422 Associate
★☆☆☆☆
Found in Text Mining only
Central Nervous System Diseases Central nervous system disease Pubtator 33999436 Associate
★☆☆☆☆
Found in Text Mining only
Gastric ulcer Gastric ulcer BEFREE 28365824
★☆☆☆☆
Found in Text Mining only
Hypopituitarism Hypopituitarism Pubtator 33999436 Associate
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 11281419
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 18066084, 25906155, 25971253, 29458771
★☆☆☆☆
Found in Text Mining only