Entry - *620824 - GLYCOLIPID TRANSFER PROTEIN DOMAIN-CONTAINING PROTEIN 2; GLTPD2 - OMIM

 
 
* 620824

GLYCOLIPID TRANSFER PROTEIN DOMAIN-CONTAINING PROTEIN 2; GLTPD2


HGNC Approved Gene Symbol: GLTPD2

Cytogenetic location: 17p13.2     Genomic coordinates (GRCh38): 17:4,788,964-4,790,589 (from NCBI)


TEXT

▼ Description

Members of the glycolipid transfer protein (GLTP) superfamily were originally identified as proteins that accelerate the intermembrane transfer of glycolipids. GLTPD2 contains a GLTP-fold domain and shares greater homology with GLTP family proteins that transfer ceramide-1-phosphate (C1P), such as GLTPD1 (615467), rather than glycolipids (review by Malinina et al., 2015).


▼ Cloning and Expression

In their review, Malinina et al. (2015) noted that the existence of GLTPD2 in the human genome had been predicted by computer analysis, and they verified the presence of its mRNA in human tissues. GLTPD2 protein contains a GLTP-fold that shares greater homology with the C1P transfer proteins GLTPD1 and yeast Acd11 than with glycolipid-selective GLTPs at key positions in the putative sphingolipid headgroup recognition center.

In their review, Mishra et al. (2020) stated that human GLTPD2 contains 291 amino acids, with the GLTP-like domain spanning the final 211 residues. The N-terminal region preceding the GLTP-like domain contains a predicted transmembrane helix. Database analysis suggested high expression of GLTPD2 mRNA in liver cancer.


▼ Gene Structure

Mishra et al. (2020) stated that the GLTPD2 gene contains 4 exons.


▼ Mapping

Mishra et al. (2020) stated that the GLTPD2 gene maps to chromosome 17p13.2.


▼ REFERENCES

  1. Malinina, L., Simanshu, D. K., Zhai, X., Samygina, V. R., Kamlekar, R., Kenoth, R., Ochoa-Lizarralde, B., Malakhova, M. L., Molotkovsky, J. G., Patel, D. J., Brown, R. E. Sphingolipid transfer proteins defined by the GLTP-fold. Quart. Rev. Biophys. 48: 281-322, 2015. [PubMed: 25797198, images, related citations] [Full Text]

  2. Mishra, S. K., Gao, Y. G., Zou, X., Stephenson, D. J., Malinina, L., Hinchcliffe, E. H., Chalfant, C. E., Brown, R. E. Emerging roles for human glycolipid transfer protein superfamily members in the regulation of autophagy, inflammation, and cell death. Prog. Lipid Res. 78: 101031, 2020. [PubMed: 32339554, images, related citations] [Full Text]


Creation Date:
Bao Lige : 05/10/2024
Edit History:
mgross : 05/10/2024

* 620824

GLYCOLIPID TRANSFER PROTEIN DOMAIN-CONTAINING PROTEIN 2; GLTPD2


HGNC Approved Gene Symbol: GLTPD2

Cytogenetic location: 17p13.2     Genomic coordinates (GRCh38): 17:4,788,964-4,790,589 (from NCBI)


TEXT

Description

Members of the glycolipid transfer protein (GLTP) superfamily were originally identified as proteins that accelerate the intermembrane transfer of glycolipids. GLTPD2 contains a GLTP-fold domain and shares greater homology with GLTP family proteins that transfer ceramide-1-phosphate (C1P), such as GLTPD1 (615467), rather than glycolipids (review by Malinina et al., 2015).


Cloning and Expression

In their review, Malinina et al. (2015) noted that the existence of GLTPD2 in the human genome had been predicted by computer analysis, and they verified the presence of its mRNA in human tissues. GLTPD2 protein contains a GLTP-fold that shares greater homology with the C1P transfer proteins GLTPD1 and yeast Acd11 than with glycolipid-selective GLTPs at key positions in the putative sphingolipid headgroup recognition center.

In their review, Mishra et al. (2020) stated that human GLTPD2 contains 291 amino acids, with the GLTP-like domain spanning the final 211 residues. The N-terminal region preceding the GLTP-like domain contains a predicted transmembrane helix. Database analysis suggested high expression of GLTPD2 mRNA in liver cancer.


Gene Structure

Mishra et al. (2020) stated that the GLTPD2 gene contains 4 exons.


Mapping

Mishra et al. (2020) stated that the GLTPD2 gene maps to chromosome 17p13.2.


REFERENCES

  1. Malinina, L., Simanshu, D. K., Zhai, X., Samygina, V. R., Kamlekar, R., Kenoth, R., Ochoa-Lizarralde, B., Malakhova, M. L., Molotkovsky, J. G., Patel, D. J., Brown, R. E. Sphingolipid transfer proteins defined by the GLTP-fold. Quart. Rev. Biophys. 48: 281-322, 2015. [PubMed: 25797198] [Full Text: https://doi.org/10.1017/S003358351400016X]

  2. Mishra, S. K., Gao, Y. G., Zou, X., Stephenson, D. J., Malinina, L., Hinchcliffe, E. H., Chalfant, C. E., Brown, R. E. Emerging roles for human glycolipid transfer protein superfamily members in the regulation of autophagy, inflammation, and cell death. Prog. Lipid Res. 78: 101031, 2020. [PubMed: 32339554] [Full Text: https://doi.org/10.1016/j.plipres.2020.101031]


Creation Date:
Bao Lige : 05/10/2024

Edit History:
mgross : 05/10/2024



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OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.
Printed: June 8, 2024