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Gene

CARMIL2

capping protein regulator and myosin 1 linker 2

Summary

Cytogenetic location
16q22.1
Coordinates
Chromosome 16: 67,645,144–67,657,569 (GRCh38)
Exons
38 exons across 12.4 kb
Protein
1,435 amino acids
Inheritance
Autosomal recessive
Also known as
LRRC16C
Previous symbols
RLTPR
MANE Select transcript
ENST00000334583.11NM_001013838.3
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
      • 3 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
      • 3 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 CARMIL2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 16, with a bracket where CARMIL2 sits. CARMIL2 and 46 genes near it on chromosome 16, from 67,151,357 to 68,151,356.Chromosome 1616q22.1p13.3p13.2p13.13p13.12p13.11p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q13q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.367.2 Mb67.4 Mb67.6 Mb67.8 Mb68 MbTRADD: 67,153,969–67,163,760, reverse strandFBXL8: 67,159,932–67,164,570, forward strand: 67,163,385–67,165,815, forward strandHSF4: 67,164,681–67,169,945, forward strandHSF4NOL3: 67,170,154–67,176,189, forward strandMATCAP1: 67,175,599–67,184,228, reverse strandEXOC3L1: 67,184,313–67,190,242, reverse strandE2F4: 67,192,117–67,198,919, forward strandE2F4ELMO3: 67,199,105–67,204,029, forward strandELMO3TMEM208: 67,227,103–67,229,281, forward strandTMEM208FHOD1: 67,229,387–67,247,539, reverse strandFHOD1SLC9A5: 67,237,683–67,272,191, forward strandSLC9A5PLEKHG4: 67,277,510–67,289,499, forward strandPLEKHG4KCTD19: 67,289,428–67,326,766, reverse strandKCTD19LRRC36: 67,326,798–67,385,221, forward strandLRRC36TPPP3: 67,389,027–67,393,518, reverse strandTPPP3ZDHHC1: 67,394,152–67,416,833, reverse strandZDHHC1HSD11B2: 67,430,652–67,437,553, forward strandHSD11B2ATP6V0D1: 67,437,523–67,481,227, reverse strandATP6V0D1AGRP: 67,482,571–67,483,552, reverse strandAGRPRIPOR1: 67,518,418–67,546,788, forward strandRIPOR1CTCF: 67,561,831–67,639,189, forward strandCARMIL2: 67,645,144–67,657,569, forward strandCARMIL2ACD: 67,657,512–67,660,810, reverse strandACDPARD6A: 67,660,350–67,664,266, forward strandPARD6AENKD1: 67,662,945–67,667,954, reverse strandENKD1C16orf86: 67,666,802–67,668,757, forward strandGFOD2: 67,674,527–67,719,352, reverse strandRANBP10: 67,723,070–67,806,563, reverse strandRANBP10TSNAXIP1: 67,806,765–67,832,148, forward strandTSNAXIP1CENPT: 67,828,157–67,847,811, reverse strandCENPTTHAP11: 67,842,320–67,844,195, forward strandTHAP11NUTF2: 67,844,369–67,872,569, forward strandNUTF2EDC4: 67,873,049–67,884,520, forward strandNRN1L: 67,884,868–67,888,855, forward strandNRN1LPSKH1: 67,893,244–67,929,676, forward strandPSKH1CTRL: 67,927,640–67,932,365, reverse strandCTRL: 67,929,614–67,936,017, reverse strandPSMB10: 67,934,504–67,936,865, reverse strandPSMB10LCAT: 67,939,150–67,944,681, reverse strandSLC12A4: 67,943,474–67,969,601, reverse strandDPEP3: 67,975,661–67,980,554, reverse strandDPEP3DPEP2: 67,987,392–68,000,624, reverse strandDPEP2DUS2: 67,987,746–68,079,344, forward strandDPEP2NB: 68,013,436–68,015,911, reverse strandDPEP2NBDDX28: 68,020,916–68,023,232, reverse strandDDX28NFATC3: 68,084,751–68,229,259, forward strandNFATC3Diagram of CARMIL2: 38 exons on the forward strand of chromosome 16Exon 3: 1 known disease-causing siteExon 7: 1 known disease-causing siteExon 14: 1 known disease-causing siteExon 17: 2 known disease-causing sitesExon 20: 3 known disease-causing sitesExon 25: 2 known disease-causing sitesExon 31: 1 known disease-causing siteExon 37: 1 known disease-causing siteExon 1: 67,645,144–67,645,286, 143 basesExon 2: 67,645,540–67,645,631, 92 basesExon 3: 67,645,724–67,645,777, 54 basesExon 4: 67,646,018–67,646,080, 63 basesExon 5: 67,646,186–67,646,310, 125 basesExon 6: 67,646,426–67,646,517, 92 basesExon 7: 67,646,714–67,646,784, 71 basesExon 8: 67,646,900–67,646,973, 74 basesExon 9: 67,647,116–67,647,191, 76 basesExon 10: 67,647,299–67,647,387, 89 basesExon 11: 67,647,508–67,647,602, 95 basesExon 12: 67,647,680–67,647,766, 87 basesExon 13: 67,647,846–67,647,958, 113 basesExon 14: 67,648,052–67,648,314, 263 basesExon 15: 67,648,398–67,648,502, 105 basesExon 16: 67,648,685–67,648,754, 70 basesExon 17: 67,648,893–67,648,974, 82 basesExon 18: 67,649,076–67,649,172, 97 basesExon 19: 67,649,254–67,649,311, 58 basesExon 20: 67,649,447–67,649,619, 173 basesExon 21: 67,649,806–67,649,968, 163 basesExon 22: 67,650,049–67,650,150, 102 basesExon 23: 67,651,187–67,651,315, 129 basesExon 24: 67,651,401–67,651,514, 114 basesExon 25: 67,651,685–67,651,845, 161 basesExon 26: 67,651,921–67,652,008, 88 basesExon 27: 67,652,199–67,652,339, 141 basesExon 28: 67,652,472–67,652,538, 67 basesExon 29: 67,653,019–67,653,254, 236 basesExon 30: 67,654,149–67,654,249, 101 basesExon 31: 67,654,332–67,654,692, 361 basesExon 32: 67,654,778–67,654,900, 123 basesExon 33: 67,656,031–67,656,067, 37 basesExon 34: 67,656,228–67,656,299, 72 basesExon 35: 67,656,424–67,656,645, 222 basesExon 36: 67,656,801–67,656,881, 81 basesExon 37: 67,657,239–67,657,316, 78 basesExon 38: 67,657,406–67,657,569, 164 bases124681012141618202224262830323436385′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 4.5 kb of the gene's 12.4 kb; 4,308 of those bases code for the protein.

How a genome test reads CARMIL2

17

positions in CARMIL2 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 12.4 kb of CARMIL2, introns included, not only the 4.5 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.). CARMIL2 gene: capping protein regulator and myosin 1 linker 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/carmil2

Vancouver

Dante Labs. CARMIL2 gene: capping protein regulator and myosin 1 linker 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/carmil2

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