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Gene

CCBE1

collagen and calcium binding EGF domains 1

Summary

Cytogenetic location
18q21.32
Coordinates
Chromosome 18: 59,430,939–59,697,423 (GRCh38)
Exons
11 exons across 266.5 kb
Protein
406 amino acids
Inheritance
Autosomal recessive
Also known as
FLJ30681, KIAA1983
MANE Select transcript
ENST00000439986.9NM_133459.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Primary Lymphoedema & Lymphatic Malformations

    • Hennekam Syndrome Type 1Autosomal recessive

      A condition caused by changes in CCBE1 that combines lymphoedema, swollen lymph vessels in the gut and other organs, and variable learning difficulties.

      • 3 GenCC submitters rate it definitive or strong

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How CCBE1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 18, with a bracket where CCBE1 sits. CCBE1 and 6 genes near it on chromosome 18, from 59,064,181 to 60,064,180.Chromosome 1818q21.32p11.32p11.31p11.23p11.22p11.21p11.1q11.1q11.2q12.1q12.2q12.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q2359.2 Mb59.4 Mb59.6 Mb59.8 Mb60 MbSEC11C: 59,139,470–59,158,850, forward strandSEC11CGRP: 59,219,984–59,230,790, forward strandGRPRAX: 59,267,035–59,274,086, reverse strandRAXCPLX4: 59,275,156–59,318,655, reverse strandCPLX4LMAN1: 59,327,823–59,359,417, reverse strandLMAN1CCBE1: 59,430,939–59,697,423, reverse strandCCBE1PMAIP1: 59,899,644–59,904,305, forward strandPMAIP1Diagram of CCBE1: 11 exons on the reverse strand of chromosome 18Exon 4: 4 known disease-causing sitesExon 11: 59,430,939–59,436,141, 5,203 basesExon 10: 59,438,111–59,438,146, 36 basesExon 9: 59,439,543–59,439,578, 36 basesExon 8: 59,439,677–59,439,816, 140 basesExon 7: 59,447,983–59,448,103, 121 basesExon 6: 59,454,851–59,454,951, 101 basesExon 5: 59,466,739–59,466,891, 153 basesExon 4: 59,469,473–59,469,607, 135 basesExon 3: 59,480,186–59,480,238, 53 basesExon 2: 59,696,629–59,696,709, 81 basesExon 1: 59,697,212–59,697,423, 212 bases1115′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 6.3 kb of the gene's 266.5 kb; 1,221 of those bases code for the protein.

How a genome test reads CCBE1

5

positions in CCBE1 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 266.5 kb of CCBE1, introns included, not only the 6.3 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). CCBE1 gene: collagen and calcium binding EGF domains 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/ccbe1

Vancouver

Dante Labs. CCBE1 gene: collagen and calcium binding EGF domains 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/ccbe1

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