Skip to content
Use your HSA or FSA funds

Gene

KHDC3L

KH domain containing 3 like, subcortical maternal complex member

Summary

Cytogenetic location
6q13
Coordinates
Chromosome 6: 73,362,658–73,364,171 (GRCh38)
Exons
3 exons across 1.5 kb
Protein
217 amino acids
Also known as
ECAT1
Previous symbols
C6orf221
MANE Select transcript
ENST00000370367.4NM_001017361.3
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 reports relevant to this gene

No Genome Test report reads KHDC3L yet. The test sequences your whole genome, so your data includes it all the same.

How KHDC3L is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 6, with a bracket where KHDC3L sits. KHDC3L and 12 genes near it on chromosome 6, from 72,863,415 to 73,863,414.Chromosome 66q13p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12q13q14.1q14.2q14.3q15q16.1q16.2q16.3q21q22.1q22.2q22.31q22.32q22.33q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q26q2773 Mb73.2 Mb73.4 Mb73.6 Mb73.8 MbKCNQ5: 72,621,623–73,198,853, forward strandKCNQ5: 73,209,746–73,263,196, reverse strandKHDC1L: 73,223,544–73,225,770, reverse strandKHDC1LKHDC1: 73,241,310–73,310,455, reverse strandKHDC1DPPA5: 73,353,063–73,354,294, reverse strandDPPA5KHDC3L: 73,362,658–73,364,171, forward strandKHDC3LOOEP: 73,368,549–73,395,133, reverse strandOOEPDDX43: 73,394,774–73,417,578, forward strandDDX43CGAS: 73,413,515–73,461,726, reverse strandCGASMTO1: 73,461,578–73,509,236, forward strandMTO1EEF1A1: 73,489,308–73,525,587, reverse strandEEF1A1SLC17A5: 73,593,364–73,654,106, reverse strandSLC17A5CD109: 73,695,779–73,828,316, forward strandCD109Diagram of KHDC3L: 3 exons on the forward strand of chromosome 6Exon 2: 2 known disease-causing sitesExon 1: 73,362,658–73,362,898, 241 basesExon 2: 73,363,095–73,363,274, 180 basesExon 3: 73,363,556–73,364,171, 616 bases1235′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 1 kb of the gene's 1.5 kb; 654 of those bases code for the protein.

How a genome test reads KHDC3L

3

positions in KHDC3L 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 1.5 kb of KHDC3L, introns included, not only the 1 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.
  • 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.). KHDC3L gene: KH domain containing 3 like, subcortical maternal complex member. Retrieved 17 October 2026, from https://dantelabs.com/genes/khdc3l

Vancouver

Dante Labs. KHDC3L gene: KH domain containing 3 like, subcortical maternal complex member [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/khdc3l

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test