STARD8

protein-coding

StAR related lipid transfer domain containing 8, the group of StAR related lipid transfer domain containing|Rho GTPase activating proteins

Gene summary

This gene encodes a member of a subfamily of Rho GTPase activating proteins that contain a steroidogenic acute regulatory protein related lipid transfer domain. The encoded protein localizes to focal adhesions and may be involved in regulating cell morphology. This protein may also function as a tumor suppressor. [provided by RefSeq, Mar 2010]

MANE transcript

NM_001142503.3

Inheritance

—

ClinVar variants

U:195B:25

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.29

Max pathogenic AF

—

Genomic locus

chrX:68,647,666-68,725,842

External References & Databases

Ensembl (ENSG00000130052)

Transcript & Mutation Effects

hg38 • Region Span ~78.2 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to STARD8 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 149

not providedTotal: 18

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001142503.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			12 clinvar	5 clinvar	3 clinvar	20
missense			171 clinvar	16 clinvar	1 clinvar	188
nonsense			8 clinvar			8
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			4 clinvar			4
Total	0	0	195	21	4	220

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 16 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001142503.3	RefSeq	NP_001135975.1	15	MANE Select
ENST00000374599.8	Ensembl	ENSP00000363727.3	15	MANE Select
NM_001142504.3	RefSeq	NP_001135976.1	11	Standard
NM_014725.5	RefSeq	NP_055540.2	11	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Signal Transduction
Rho GTPase cycle
Signaling by Rho GTPases

Biological Process

signal transduction
positive regulation of GTPase activity
regulation of small GTPase mediated signal transduction

Molecular Function

GTPase activator activity
lipid binding

Cellular Component

cytosol
focal adhesion

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000374599
Coding exons: 15
Length: 78177
Individuals with no LoFs: 125721
Homozygous LoFs: 4
Heterozygous LoFs: 13
Defined: 125738
p: 0.0000676

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.374	436	459	0.951	0.0000395	7124
Missense (PolyPhen)		92	116	0.7931		1941
Synonymous	-0.338	193	187	1.03	0.0000160	2262
Loss of Function	3.70	9	31.4	0.287	0.00000224	524

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00024	0.00018	rare
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000073	0.000054	rare
Finnish	0.000077	0.000046	rare
European (Non-Finnish)	0.00012	0.000079	rare
South Asian	0.00012	0.000065	rare
Other	0.00022	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Accelerates GTPase activity of RHOA and CDC42, but not RAC1. Stimulates the hydrolysis of phosphatidylinositol 4,5- bisphosphate by PLCD1. {ECO:0000269|PubMed:17976533}.;

Recessive Scores

pRec: 0.124

Intolerance Scores

LoFtool: 0.569
RVIS EVS: 0.74
RVIS percentile EVS: 86.36

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.255

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium