SBSPON

protein-coding

somatomedin B and thrombospondin type 1 domain containing

Gene summary

Predicted to be an extracellular matrix structural constituent. Located in extracellular matrix. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

C8orf84

MANE transcript

NM_153225.4

Inheritance

—

ClinVar variants

U:52B:2

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.68

Max pathogenic AF

—

Genomic locus

chr8:73,064,543-73,124,088

External References & Databases

Ensembl (ENSG00000164764)

Transcript & Mutation Effects

hg38 • Region Span ~59.5 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 SBSPON variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 50

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_153225.4. 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			1 clinvar	1 clinvar		2
missense			50 clinvar	1 clinvar		51
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	52	2	0	54

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 10 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_153225.4	RefSeq	NP_694957.3	5	MANE Select
ENST00000297354.7	Ensembl	ENSP00000297354.6	5	MANE Select
ENST00000964790.1	Ensembl	ENSP00000634849.1	4	Standard
ENST00000964790.2	Ensembl	ENSP00000634849.1	4	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Post-translational protein modification
Metabolism of proteins
O-glycosylation of TSR domain-containing proteins
O-linked glycosylation

Biological Process

receptor-mediated endocytosis
immune response

Molecular Function

scavenger receptor activity
extracellular matrix structural constituent
polysaccharide binding

Cellular Component

collagen-containing extracellular matrix

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000297354
Coding exons: 5
Length: 59549
Individuals with no LoFs: 124739
Homozygous LoFs: 0
Heterozygous LoFs: 56
Defined: 124795
p: 0.000224

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.0552	155	153	1.01	0.00000888	1691
Missense (PolyPhen)		59	59.251	0.99576		661
Synonymous	-0.304	59	56.1	1.05	0.00000336	501
Loss of Function	1.12	10	14.6	0.683	8.11e-7	149

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00072	0.00032	rare
Latino/Admixed American	0.00015	0.00014	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00053	0.00050	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00021	0.00020	rare
South Asian	0.00044	0.00042	rare
Other	0.00017	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.0983

Intolerance Scores

RVIS EVS: 0.73
RVIS percentile EVS: 86.08

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Essential (gene trap): N

Gene Damage Prediction

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