GOLGA7B

protein-coding

golgin A7 family member B

Gene summary

Enables enzyme binding activity. Predicted to be involved in protein targeting to membrane. Predicted to be located in Golgi membrane and plasma membrane. Predicted to be part of palmitoyltransferase complex. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

C10orf133
C10orf132

MANE transcript

NM_001010917.3

Inheritance

—

ClinVar variants

U:29B:3

Top phenotype

GOLGA7B-related condition

gnomAD constraint

pLI —, LoF o/e 0.49

Max pathogenic AF

—

Genomic locus

chr10:97,849,843-97,871,580

External References & Databases

Ensembl (ENSG00000155265)

Transcript & Mutation Effects

hg38 • Region Span ~21.7 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 GOLGA7B variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 33

GOLGA7B-related conditionTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001010917.3. 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			2 clinvar	3 clinvar		5
missense			27 clinvar			27
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	29	3	0	32

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 17 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001010917.3	RefSeq	NP_001010917.1	5	MANE Select
ENST00000370602.6	Ensembl	ENSP00000359634.1	5	MANE Select
ENST00000856898.1	Ensembl	ENSP00000526957.1	5	Standard
ENST00000856898.2	Ensembl	ENSP00000526957.1	5	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

protein targeting to membrane
peptidyl-L-cysteine S-palmitoylation

Molecular Function

protein-cysteine S-palmitoyltransferase activity

Cellular Component

Golgi membrane
palmitoyltransferase complex

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000370602
Coding exons: 5
Length: 21342
Individuals with no LoFs: 125729
Homozygous LoFs: 0
Heterozygous LoFs: 19
Defined: 125748
p: 0.0000756

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.02	78	108	0.723	0.00000674	1096
Missense (PolyPhen)		19	29.875	0.63598		334
Synonymous	-0.384	45	41.8	1.08	0.00000271	316
Loss of Function	1.50	5	10.2	0.492	5.82e-7	104

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0.000099	0.000099	rare
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.00015	0.00015	rare
South Asian	0.000033	0.000033	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May be involved in protein transport from Golgi to cell surface. {ECO:0000250}.;

Intolerance Scores

LoFtool: 0.541
RVIS EVS: 0.13
RVIS percentile EVS: 62.74

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.508

Gene Damage Prediction

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