MCAM

protein-coding

melanoma cell adhesion molecule, the group of MicroRNA protein coding host genes|V-set domain containing|CD molecules|C2-set domain containing|Ig-like cell adhesion molecule family

Gene summary

Involved in glomerular filtration and vascular wound healing. Acts upstream of or within angiogenesis. Located in external side of plasma membrane. Biomarker of chronic obstructive pulmonary disease and uveal melanoma. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_006500.3

Inheritance

—

ClinVar variants

U:124B:6

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.37

Max pathogenic AF

—

Genomic locus

chr11:119,308,529-119,321,521

External References & Databases

Ensembl (ENSG00000076706)

Transcript & Mutation Effects

hg38 • Region Span ~13.0 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 MCAM variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 115

not providedTotal: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_006500.3. 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		1 clinvar	3
missense			114 clinvar	4 clinvar	1 clinvar	119
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			8 clinvar			8
Total	0	0	124	4	2	130

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 41 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_006500.3	RefSeq	NP_006491.2	16	MANE Select
ENST00000264036.6	Ensembl	ENSP00000264036.4	16	MANE Select
ENST00000856035.1	Ensembl	ENSP00000526094.1	15	Standard
ENST00000856035.2	Ensembl	ENSP00000526094.1	15	Standard

Model Organisms & Knockout Phenotypes

Observed phenotypic effects in mouse and zebrafish models

Gene / Model	Organism	Observed Phenotype
mcamb	Danio rerio	Structure: dorsal longitudinal anastomotic vessel Quality: aplastic abnormal

Gene / Model

Organism

Observed Phenotype

mcamb

Danio rerio

Structure: dorsal longitudinal anastomotic vessel

Quality: aplastic

abnormal

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

angiogenesis
glomerular filtration
cell adhesion
anatomical structure morphogenesis
positive regulation of cell migration

Cellular Component

extracellular region
extracellular space
nucleus
plasma membrane
focal adhesion

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000264036
Coding exons: 16
Length: 12991
Individuals with no LoFs: 125703
Homozygous LoFs: 0
Heterozygous LoFs: 45
Defined: 125748
p: 0.000179

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.866	344	392	0.877	0.0000247	4175
Missense (PolyPhen)		109	146.39	0.74458		1586
Synonymous	-0.479	174	166	1.05	0.0000113	1310
Loss of Function	3.50	13	35.5	0.366	0.00000179	395

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00018	0.00018	rare
Latino/Admixed American	0.000029	0.000029	rare
Ashkenazi Jewish	0.00020	0.00020	rare
East Asian	0.00044	0.00044	rare
Finnish	0.00019	0.00018	rare
European (Non-Finnish)	0.00011	0.00011	rare
South Asian	0.00042	0.00042	rare
Other	0.00017	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Plays a role in cell adhesion, and in cohesion of the endothelial monolayer at intercellular junctions in vascular tissue. Its expression may allow melanoma cells to interact with cellular elements of the vascular system, thereby enhancing hematogeneous tumor spread. Could be an adhesion molecule active in neural crest cells during embryonic development. Acts as surface receptor that triggers tyrosine phosphorylation of FYN and PTK2/FAK1, and a transient increase in the intracellular calcium concentration. {ECO:0000269|PubMed:11036077, ECO:0000269|PubMed:8292890}.;

Recessive Scores

pRec: 0.331

Intolerance Scores

LoFtool: 0.753
RVIS EVS: -0.86
RVIS percentile EVS: 10.89

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.602

Gene Damage Prediction

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