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Gene

CD247

CD247 molecule

Summary

Cytogenetic location
1q24.2
Coordinates
Chromosome 1: 167,430,640–167,518,529 (GRCh38)
Exons
8 exons across 87.9 kb
Protein
164 amino acids
Inheritance
Autosomal recessive
Also known as
CD3H, CD3Q, TCRZ, CD3-ZETA, CD3ZETA
Previous symbols
CD3Z
MANE Select transcript
ENST00000362089.10NM_198053.3
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

  • Severe Combined Immunodeficiency

    • Autosomal recessive

      Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID). Both of these groups include several forms, with or without natural killer (NK) cells.

      • ClinGen rates the link definitive
      • 2 GenCC submitters rate it definitive or strong

Broader groupings

  • Other Inborn Errors of Immunity

    • Immunodeficiency Disease

      One of 170 genes linked to it

      Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.

      • ClinGen rates the link definitive
      • 2 GenCC submitters rate it definitive or strong
      What knowing changes

      HSCT for SCID and severe PIDs; immunoglobulin replacement (IVIG/SCIG) for antibody deficiencies; leniolisib (Joenja, FDA 2023) for APDS; gene therapy for ADA-SCID; abatacept for CTLA4/LRBA deficiency; prophylactic antibiotics; G-CSF for CGD

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 CD247 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 1, with a bracket where CD247 sits. CD247 and 11 genes near it on chromosome 1, from 166,974,585 to 167,974,584.Chromosome 11q24.2p36.33p36.32p36.31p36.23p36.22p36.21p36.13p36.12p36.11p35.3p35.2p35.1p34.3p34.2p34.1p33p32.3p32.2p32.1p31.3p31.2p31.1p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q21.1q21.2q21.3q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q31.1q31.2q31.3q32.1q32.2q32.3q41q42.11q42.12q42.13q42.2q42.3q43q44167 Mb167.2 Mb167.4 Mb167.6 Mb167.8 MbILDR2: 166,895,711–166,975,626, reverse strandILDR2MAEL: 166,975,582–167,022,214, forward strandMAELGPA33: 167,048,289–167,166,479, reverse strandGPA33STYXL2: 167,094,069–167,129,209, forward strandSTYXL2POU2F1: 167,220,855–167,427,345, forward strandPOU2F1CD247: 167,430,640–167,518,529, reverse strandCD247CREG1: 167,527,807–167,553,822, reverse strandCREG1RCSD1: 167,629,660–167,708,706, forward strandRCSD1MPZL1: 167,721,192–167,794,612, forward strandMPZL1ADCY10: 167,809,098–167,914,215, reverse strandADCY10MPC2: 167,916,675–167,937,515, reverse strandMPC2DCAF6: 167,935,783–168,076,846, forward strandDCAF6Diagram of CD247: 8 exons on the reverse strand of chromosome 1Exon 5: 1 known disease-causing siteExon 4: 1 known disease-causing siteExon 1: 1 known disease-causing siteExon 8: 167,430,640–167,431,746, 1,107 basesExon 7: 167,433,024–167,433,059, 36 basesExon 6: 167,434,020–167,434,076, 57 basesExon 5: 167,435,399–167,435,434, 36 basesExon 4: 167,438,570–167,438,650, 81 basesExon 3: 167,439,344–167,439,400, 57 basesExon 2: 167,440,664–167,440,767, 104 basesExon 1: 167,518,408–167,518,529, 122 bases864215′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 1.6 kb of the gene's 87.9 kb; 495 of those bases code for the protein.

How a genome test reads CD247

3

positions in CD247 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 87.9 kb of CD247, introns included, not only the 1.6 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.). CD247 gene: CD247 molecule. Retrieved 16 October 2026, from https://dantelabs.com/genes/cd247

Vancouver

Dante Labs. CD247 gene: CD247 molecule [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/cd247

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