CERCAM

protein-coding

cerebral endothelial cell adhesion molecule

Gene summary

Enables identical protein binding activity. Acts upstream of or within cell adhesion. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

CEECAM1

MANE transcript

NM_016174.5

Inheritance

—

ClinVar variants

U:124B:4

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.52

Max pathogenic AF

—

Genomic locus

chr9:128,411,751-128,437,351

External References & Databases

Ensembl (ENSG00000167123)

Transcript & Mutation Effects

hg38 • Region Span ~25.6 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 CERCAM variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 121

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_016174.5. 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			121 clinvar	3 clinvar		124
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	124	4	0	128

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 42 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_016174.5	RefSeq	NP_057258.3	12	MANE Select
ENST00000372838.9	Ensembl	ENSP00000361929.4	12	MANE Select
NM_001286760.1	RefSeq	NP_001273689.1	11	Standard
ENST00000372842.5	Ensembl	ENSP00000361933.1	11	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Lysine metabolism

Biological Process

cell adhesion
leukocyte cell-cell adhesion

Cellular Component

endoplasmic reticulum lumen
plasma membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000372838
Coding exons: 12
Length: 25597
Individuals with no LoFs: 125696
Homozygous LoFs: 0
Heterozygous LoFs: 52
Defined: 125748
p: 0.000207

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.167	359	368	0.975	0.0000241	3821
Missense (PolyPhen)		144	149.91	0.96061		1536
Synonymous	0.851	138	151	0.912	0.0000100	1214
Loss of Function	2.28	14	26.7	0.524	0.00000114	302

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00018	0.00018	rare
Latino/Admixed American	0.00020	0.00020	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00033	0.00033	rare
Finnish	0.000052	0.000046	rare
European (Non-Finnish)	0.00019	0.00019	rare
South Asian	0.00036	0.00036	rare
Other	0.00033	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Probable cell adhesion protein involved in leukocyte transmigration across the blood-brain barrier. Does not express any beta-galactosyltransferase activity in vitro. {ECO:0000269|PubMed:10608765, ECO:0000269|PubMed:19075007}.;

Recessive Scores

pRec: 0.0956

Intolerance Scores

LoFtool: 0.350
RVIS EVS: 0.36
RVIS percentile EVS: 74.7

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.269

Gene Damage Prediction

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