Entry - *619886 - R3H DOMAIN-CONTAINING PROTEIN 2; R3HDM2 - OMIM

 
 
* 619886

R3H DOMAIN-CONTAINING PROTEIN 2; R3HDM2


Alternative titles; symbols

KIAA1002


HGNC Approved Gene Symbol: R3HDM2

Cytogenetic location: 12q13.3     Genomic coordinates (GRCh38): 12:57,253,764-57,431,141 (from NCBI)


TEXT

▼ Cloning and Expression

Nagase et al. (1999) cloned R3HDM2, which they called KIAA1002, from a human brain cDNA library. The deduced protein contains 840 amino acids and shares significant similarity with KIAA0029 (R3HDM1; 619474). RT-PCR ELISA detected moderate to high expression of R3HDM2 in all adult and fetal human tissues examined, with highest expression in adult brain and ovary. R3HDM2 showed high expression in all specific brain regions examined.


▼ Mapping

By analysis of a human-rodent hybrid panel, Nagase et al. (1999) mapped the R3HDM2 gene to chromosome 12.

Gross (2022) mapped the R3HDM2 gene to chromosome 12q13.3 based on an alignment of the R3HDM2 sequence (GenBank BC104995) with the genomic sequence (GRCh38).

▼ REFERENCES

  1. Gross, M. B. Personal Communication. Baltimore, Md. 5/24/2022.

  2. Nagase, T., Ishikawa, K., Suyama, M., Kikuno, R., Hirosawa, M., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O. Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. DNA Res. 6: 63-70, 1999. [PubMed: 10231032, related citations] [Full Text]


Creation Date:
Matthew B. Gross : 05/24/2022
Edit History:
carol : 05/25/2022
mgross : 05/24/2022

* 619886

R3H DOMAIN-CONTAINING PROTEIN 2; R3HDM2


Alternative titles; symbols

KIAA1002


HGNC Approved Gene Symbol: R3HDM2

Cytogenetic location: 12q13.3     Genomic coordinates (GRCh38): 12:57,253,764-57,431,141 (from NCBI)


TEXT

Cloning and Expression

Nagase et al. (1999) cloned R3HDM2, which they called KIAA1002, from a human brain cDNA library. The deduced protein contains 840 amino acids and shares significant similarity with KIAA0029 (R3HDM1; 619474). RT-PCR ELISA detected moderate to high expression of R3HDM2 in all adult and fetal human tissues examined, with highest expression in adult brain and ovary. R3HDM2 showed high expression in all specific brain regions examined.


Mapping

By analysis of a human-rodent hybrid panel, Nagase et al. (1999) mapped the R3HDM2 gene to chromosome 12.

Gross (2022) mapped the R3HDM2 gene to chromosome 12q13.3 based on an alignment of the R3HDM2 sequence (GenBank BC104995) with the genomic sequence (GRCh38).

REFERENCES

  1. Gross, M. B. Personal Communication. Baltimore, Md. 5/24/2022.

  2. Nagase, T., Ishikawa, K., Suyama, M., Kikuno, R., Hirosawa, M., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O. Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. DNA Res. 6: 63-70, 1999. [PubMed: 10231032] [Full Text: https://doi.org/10.1093/dnares/6.1.63]


Creation Date:
Matthew B. Gross : 05/24/2022

Edit History:
carol : 05/25/2022
mgross : 05/24/2022



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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 6, 2024