MYCBPAP

protein-coding

MYCBP associated protein

Gene summary

Predicted to enable clathrin binding activity and phospholipid binding activity. Involved in spermatogenesis. Located in acrosomal vesicle. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_032133.6

Inheritance

ClinVar variants

U:138B:14

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.45

Max pathogenic AF

—

Genomic locus

chr17:50,508,425-50,531,501

External References & Databases

Ensembl (ENSG00000136449)

Transcript & Mutation Effects

hg38 • Region Span ~23.1 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

spermatogenic failureMODERATE

Inheritance Pattern: AR

Disease ID:MONDO:0004983

Submitter: Ambry Genetics

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to MYCBPAP variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 147

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_032133.6. 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						0
missense			137 clinvar	14 clinvar		151
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	138	14	0	152

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 26 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_032133.6	RefSeq	NP_115509.5	19	MANE Select
ENST00000323776.11	Ensembl	ENSP00000323184.6	19	MANE Select
NM_001366294.2	RefSeq	NP_001353223.1	19	Standard
ENST00000419930.2	Ensembl	ENSP00000407719.2	2	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

chemical synaptic transmission
multicellular organism development
spermatogenesis
cell differentiation

Molecular Function

protein binding

Cellular Component

cytoplasm
membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000323776
Coding exons: 19
Length: 23118
Individuals with no LoFs: 125662
Homozygous LoFs: 0
Heterozygous LoFs: 86
Defined: 125748
p: 0.000342

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.311	539	560	0.963	0.0000313	6407
Missense (PolyPhen)		154	177.92	0.86555		2238
Synonymous	0.697	203	216	0.940	0.0000117	1932
Loss of Function	3.59	22	49.2	0.447	0.00000263	553

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00031	0.00031	rare
Latino/Admixed American	0.00014	0.00014	rare
Ashkenazi Jewish	0.00012	0.000099	rare
East Asian	0.00088	0.00087	rare
Finnish	0.00079	0.00079	rare
European (Non-Finnish)	0.00026	0.00025	rare
South Asian	0.00040	0.00033	rare
Other	0.00049	0.00049	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May play a role in spermatogenesis. May be involved in synaptic processes (By similarity). {ECO:0000250|UniProtKB:Q69CM7, ECO:0000269|PubMed:12151104}.;

Recessive Scores

pRec: 0.0888

Intolerance Scores

LoFtool: 0.809
RVIS EVS: 2.01
RVIS percentile EVS: 97.68

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.176

Gene Damage Prediction

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