STARD7 - StAR related lipid transfer domain containing 7 Gene

Also Known as GTT1; FAME2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 56910

About STARD7

Cytogenetic location: 2q11.2 Genomic coordinates (GRCh38): 2:96,184,859-96,208,827 (from NCBI)

This gene has 6 transcripts (splice variants), 208 orthologues, 2 paralogues and is associated with 1 phenotype. Ubiquitous expression in kidney (RPKM 46.9), brain (RPKM 44.7) and 25 other tissues.

Summary

Predicted to enable lipid binding activity. Predicted to act upstream of or within several processes, including establishment of skin barrier; mucociliary clearance; and myeloid dendritic cell activation. Predicted to be located in cytoplasm and extracellular region. Implicated in familial adult myoclonic epilepsy 2. [provided by Alliance of Genome Resources, Apr 2022]

STARD7 Products (2)

mRNA	Protein	Name
NM_001385622.1	NP_001372551.1	stAR-related lipid transfer protein 7, mitochondrial isoform 2
NM_020151.4	NP_064536.2	stAR-related lipid transfer protein 7, mitochondrial isoform 1 precursor

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	27499296	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

STARD7 Protein Structure

START

0
100
200
300
370 a.a.

Protein Preferred Names	Protein Names
stAR-related lipid transfer protein 7, mitochondrial	START domain containing 7

Related Diseases

Diseases	Alias
Epilepsy, Familial Adult Myoclonic, 2	FAME2 Benign Adult Familial Myoclonic Epilepsy 2 Bafme2 Fcmte2 Adcme Cortical Myoclonic Tremor With Epilepsy, Familial, 2 Cortical Myoclonus And Epilepsy, Autosomal Dominant Familial Adult Myoclonic Epilepsy 2 Epilepsy, Myoclonic, Benign Adult Familial, Type 2 Autosomal Dominant Cortical Myoclonus And Epilepsy Familial Cortical Myoclonic Tremor And Epilepsy 2 Epilepsy, Myoclonic, Familial Adult, Type 2
Familial Adult Myoclonic Epilepsy	Benign Adult Familial Myoclonus Epilepsy Bafme Benign Adult Familial Myoclonic Epilepsy Fame Familial Cortical Myoclonic Tremor And Epilepsy Fcmte Adcme Autosomal Dominant Cortical Myoclonus And Epilepsy Fam Epilepsy, Myoclonic, Familial Adult Epilepsy, Myoclonic, Benign Adult Familial, Type 2
Epilepsy, Familial Adult Myoclonic, 1	FAME1 Benign Adult Familial Myoclonic Epilepsy 1 Bafme1 Fcmte1 Cortical Myoclonic Tremor With Epilepsy, Familial, 1 Familial Adult Myoclonic Epilepsy 1 Familial Cortical Myoclonic Tremor And Epilepsy 1 Epilepsy, Myoclonic, Familial Adult, Type 1
Epilepsy, Familial Adult Myoclonic, 7	FAME7 Bafme7 Fcmte7 Benign Adult Familial Myoclonic Epilepsy 7 Cortical Myoclonic Tremor With Epilepsy, Familial, 7 Familial Adult Myoclonic Epilepsy 7 Familial Cortical Myoclonic Tremor And Epilepsy 7 Benign Adult Familial Myoclonic Epilepsy 27 Epilepsy, Myoclonic, Familial Adult, Type 7
Epilepsy, Familial Adult Myoclonic, 3	FAME3 Fcmte3 Cortical Myoclonic Tremor With Epilepsy, Familial, 3 Familial Adult Myoclonic Epilepsy 3 Familial Cortical Myoclonic Tremor And Epilepsy 3 Epilepsy, Myoclonic, Familial Adult, Type 3
Epilepsy, Familial Adult Myoclonic, 4	FAME4 Fcmte4 Cortical Myoclonic Tremor With Epilepsy, Familial, 4 Familial Adult Myoclonic Epilepsy 4 Epilepsy, Myoclonic, Familial Adult, 4 Familial Cortical Myoclonic Tremor And Epilepsy 4 Epilepsy, Myoclonic, Familial Adult, Type 4
Epilepsy, Familial Adult Myoclonic, 6	FAME6 Benign Adult Familial Myoclonic Epilepsy 6 Bafme6 Fcmte6 Cortical Myoclonic Tremor With Epilepsy, Familial, 6 Familial Adult Myoclonic Epilepsy 6 Familial Cortical Myoclonic Tremor And Epilepsy 6 Epilepsy, Myoclonic, Familial Adult, Type 6
Adolescence-Adult Electroclinical Syndrome
Branchiootorenal Syndrome 2	BOR2 Bor Syndrome 2 Branchiootorenal Dysplasia 2 Branchio-Oto-Renal Dysplasia 2 Branchio-Oto-Renal Syndrome Type 2 Branchiootorenal Syndrome, Type 2
Epilepsy	Epilepsy Syndrome Epileptic Syndrome Epilepsies Symptomatic Epilepsies Post Traumatic Epilepsy Traumatic Epilepsy Traumatic Epileptic Epilepsy Due To Hippocampal Sclerosis Epilepsy With Ammon'S Horn Sclerosis Epilepsy Due To Cortical Dysplasia Epilepsy Due To Neuronal Migration Disorders

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13883	STARD7 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19819	Stard7 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26315	Stard7 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	STARD7	VGNC	VGNC:65757
Canis familiaris	STARD7	VGNC	VGNC:46887
Rattus norvegicus	STARD7	RGD	RGD:1307613
Macaca mulatta	STARD7	VGNC	VGNC:77948
Mus musculus	STARD7	MGD	MGI:2139090
Bos taurus	STARD7	VGNC	VGNC:35368
Others	STARD7	NCBI