Gene Gene information from NCBI Gene database.
Entrez ID 54765
Gene name Tripartite motif containing 44
Gene symbol TRIM44
Synonyms (NCBI Gene)
AN3DIPBHSA249128MC7
Chromosome 11
Chromosome location 11p13
Summary This gene encodes a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, namely a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. [provided by RefSeq, Jul 2008]
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs886039241 G>A Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
679
miRTarBase ID miRNA Experiments Reference
MIRT029018 hsa-miR-26b-5p Microarray 19088304
MIRT031506 hsa-miR-16-5p Sequencing 20371350
MIRT050928 hsa-miR-17-5p CLASH 23622248
MIRT046664 hsa-miR-222-3p CLASH 23622248
MIRT041849 hsa-miR-484 CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
GO ID Ontology Definition Evidence Reference
GO:0001961 Process Positive regulation of cytokine-mediated signaling pathway IDA 23460740
GO:0002230 Process Positive regulation of defense response to virus by host IDA 23460740
GO:0005515 Function Protein binding IPI 17577209, 19358823, 23460740, 25416956, 28514442, 32296183
GO:0005737 Component Cytoplasm IBA
GO:0008270 Function Zinc ion binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612298 19016 ENSG00000166326
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96DX7
Protein name Tripartite motif-containing protein 44 (Protein DIPB)
Protein function May play a role in the process of differentiation and maturation of neuronal cells (By similarity). May regulate the activity of TRIM17. Is a negative regulator of PAX6 expression (PubMed:26394807). {ECO:0000250, ECO:0000269|PubMed:19358823, ECO
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00643 zf-B_box 174 215 B-box zinc finger Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in testis. {ECO:0000269|PubMed:19358823}.
Sequence
MASGVGAAFEELPHDGTCDECEPDEAPGAEEVCRECGFCYCRRHAEAHRQKFLSHHLAEY
VHGSQAWTPPADGEGAGKEEAEVKVEQEREIESEAGEESESEEESESEEESETEEESEDE
SDEESEEDSEEEMEDEQESEAEEDNQEEGESEAEGETEAESEFDPEIEMEAERVAKRKCP
DHGLDLSTYCQEDRQLICVLCPVIGAHQGHQLSTL
DEAFEELRSKDSGGLKAAMIELVER
LKFKSSDPKVTRDQMKMFIQQEFKKVQKVIADEEQKALHLVDIQEAMATAHVTEILADIQ
SHMDRLMTQMAQAKEQLDTSNESAEPKAEGDEEGPSGASEEEDT
Sequence length 344
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
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
ANIRIDIA CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Aniridia 3 Benign; no classifications from unflagged records ClinVar
ClinGen, ClinVar, Disgenet, HPO
ClinGen, ClinVar, Disgenet, HPO
ClinGen, ClinVar, Disgenet, HPO
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
ANIRIDIA TYPE 1 Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER GWAS catalog
★★☆☆☆
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 Adenocarcinoma BEFREE 27058415
★☆☆☆☆
Found in Text Mining only
Aniridia Aniridia BEFREE 26394807
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Aniridia Aniridia ORPHANET_DG 26394807
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Aniridia Aniridia HPO_DG
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Aniridia Aniridia CTD_human_DG
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANIRIDIA 3 Aniridia UNIPROT_DG 26394807
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
ANIRIDIA 3 Aniridia GENOMICS_ENGLAND_DG 26394807
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Autosomal dominant compelling helio ophthalmic outburst syndrome Achoo syndrome GWASCAT_DG 27182965
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 28885545, 31605296
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 28885545 Associate
★☆☆☆☆
Found in Text Mining only