Gene Gene information from NCBI Gene database.
Entrez ID 81555
Gene name Yip1 domain family member 5
Gene symbol YIPF5
Synonyms (NCBI Gene)
FinGER5MEDS2SB140SMAP-5SMAP5YIP1AYIPFalpha1A
Chromosome 5
Chromosome location 5q31.3
miRNA miRNA information provided by mirtarbase database.
336
miRTarBase ID miRNA Experiments Reference
MIRT021996 hsa-miR-128-3p Sequencing 20371350
MIRT029167 hsa-miR-26b-5p Microarray 19088304
MIRT049586 hsa-miR-92a-3p CLASH 23622248
MIRT045656 hsa-miR-149-5p CLASH 23622248
MIRT042459 hsa-miR-423-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
24
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 23736259, 25742138, 26496610, 32296183, 35271311
GO:0005654 Component Nucleoplasm IDA
GO:0005783 Component Endoplasmic reticulum IDA
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611483 24877 ENSG00000145817
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q969M3
Protein name Protein YIPF5 (Five-pass transmembrane protein localizing in the Golgi apparatus and the endoplasmic reticulum 5) (Smooth muscle cell-associated protein 5) (SMAP-5) (YIP1 family member 5) (YPT-interacting protein 1 A)
Protein function Plays a role in transport between endoplasmic reticulum and Golgi. In pancreatic beta cells, required to transport proinsulin from endoplasmic reticulum into the Golgi (PubMed:33164986). {ECO:0000269|PubMed:11489904, ECO:0000269|PubMed:15611160,
Family and domains
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed with abundant expression in pancreatic tissue, islets, beta cells, and brain. Highly expressed in coronary smooth muscles. {ECO:0000269|PubMed:15922870, ECO:0000269|PubMed:33164986}.
Sequence
MSGFENLNTDFYQTSYSIDDQSQQSYDYGGSGGPYSKQYAGYDYSQQGRFVPPDMMQPQQ
PYTGQIYQPTQAYTPASPQPFYGNNFEDEPPLLEELGINFDHIWQKTLTVLHPLKVADGS
IMNETDLAGPMVFCLAFGATLLLAGKIQFGYVYGISAIGCLGMFCLLNLMSMTGVSFGCV
ASVLGYCLLPMILLSSFAVIFSLQGMVGIILTAGIIGWCSFSASKIFISALAMEGQQLLV
AYPCALLYGVFALISVF
Sequence length 257
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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
Microcephaly, epilepsy, and diabetes syndrome 2 Pathogenic rs1752071425, rs1752133411, rs2126759135, rs2126755244, rs778505668 RCV001374588
RCV001374589
RCV001374590
RCV001374591
RCV001374592
★★★★★
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
PRIMARY MICROCEPHALY, EPILEPSY, PERMANENT NEONATAL DIABETES SYNDROME Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PRIMARY MICROCEPHALY-EPILEPSY-PERMANENT NEONATAL DIABETES SYNDROME Disgenet, Orphanet
Disgenet, Orphanet
★★☆☆☆
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
cervical cancer Cervical Cancer BEFREE 28358375
★☆☆☆☆
Found in Text Mining only
Cervix carcinoma Cervix carcinoma BEFREE 28358375
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Diabetes mellitus Pubtator 33164986, 33164987 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Transient Neonatal 1 Diabetes mellitus transient neonatal Pubtator 33164986, 33164987 Associate
★☆☆☆☆
Found in Text Mining only
Epilepsy Epilepsy Pubtator 33164986, 33164987 Associate
★☆☆☆☆
Found in Text Mining only
Infertility Infertility Pubtator 37625567 Associate
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 28358375
★☆☆☆☆
Found in Text Mining only
Malignant tumor of cervix Cervical Tumor BEFREE 28358375
★☆☆☆☆
Found in Text Mining only
Microcephaly Microcephaly Pubtator 33164986, 33164987 Associate
★☆☆☆☆
Found in Text Mining only
Uterine Cervical Neoplasms Uterine neoplasm Pubtator 28358375 Associate
★☆☆☆☆
Found in Text Mining only