Entry - *611582 - FAMILY WITH SEQUENCE SIMILARITY 12, MEMBER B; FAM12B - OMIM
 
* 611582

FAMILY WITH SEQUENCE SIMILARITY 12, MEMBER B; FAM12B


Alternative titles; symbols

HUMAN EPIDIDYMIS-SPECIFIC 3, BETA; HE3B


HGNC Approved Gene Symbol: EDDM3B

Cytogenetic location: 14q11.2     Genomic coordinates (GRCh38): 14:20,768,404-20,770,948 (from NCBI)


TEXT

Cloning and Expression

By screening 2 epididymis cDNA libraries with a previously obtained 428-bp fragment of HE3B (Kirchhoff et al., 1990), a major epididymis-specific cDNA, Kirchhoff et al. (1994) identified a full-length cDNA for HE3-alpha (HE3A; 611580) and an incomplete cDNA for HE3B. Homologous sequences indicated that they were members of a novel gene family. RNase protection assays showed that both HE3A and HE3B transcripts are expressed in human epididymis. By Northern blot analysis using a full-length HE3A cDNA probe, Kirchhoff et al. (1994) showed that HE3 transcripts are expressed only in the epididymis, at highest levels in the corpus region, moderate levels in the vas deferens, and at low levels in the caput and cauda regions. HE3A did not hybridize to epididymal RNA from any nonprimate species, with the exception of boar. In boar, the HE3-like transcript was up-regulated during postnatal development, suggesting direct or indirect regulation by androgen.


Mapping

By Southern blot analysis, Kirchhoff et al. (1994) found evidence of 3 independent nonallelic HE3-related genes, HE3A, HE3B, and HE3-gamma (HE3G). HE3G appeared to be a classic pseudogene.


REFERENCES

  1. Kirchhoff, C., Osterhoff, C., Habben, I., Ivell, R. Cloning and analysis of mRNAs expressed specifically in the human epididymis. Int. J. Androl. 13: 155-167, 1990. Note: Erratum: Int. J. Androl. 13: 327 only, 1990. [PubMed: 1693137, related citations] [Full Text]

  2. Kirchhoff, C., Pera, I., Rust, W., Ivell, R. Major human epididymis-specific gene product, HE3, is the first representative of a novel gene family. Molec. Reprod. Dev. 37: 130-137, 1994. [PubMed: 7514008, related citations] [Full Text]


Creation Date:
Stefanie A. Nelson : 11/5/2007
carol : 10/01/2013
carol : 12/17/2012
terry : 6/6/2008
carol : 11/5/2007

* 611582

FAMILY WITH SEQUENCE SIMILARITY 12, MEMBER B; FAM12B


Alternative titles; symbols

HUMAN EPIDIDYMIS-SPECIFIC 3, BETA; HE3B


HGNC Approved Gene Symbol: EDDM3B

Cytogenetic location: 14q11.2     Genomic coordinates (GRCh38): 14:20,768,404-20,770,948 (from NCBI)


TEXT

Cloning and Expression

By screening 2 epididymis cDNA libraries with a previously obtained 428-bp fragment of HE3B (Kirchhoff et al., 1990), a major epididymis-specific cDNA, Kirchhoff et al. (1994) identified a full-length cDNA for HE3-alpha (HE3A; 611580) and an incomplete cDNA for HE3B. Homologous sequences indicated that they were members of a novel gene family. RNase protection assays showed that both HE3A and HE3B transcripts are expressed in human epididymis. By Northern blot analysis using a full-length HE3A cDNA probe, Kirchhoff et al. (1994) showed that HE3 transcripts are expressed only in the epididymis, at highest levels in the corpus region, moderate levels in the vas deferens, and at low levels in the caput and cauda regions. HE3A did not hybridize to epididymal RNA from any nonprimate species, with the exception of boar. In boar, the HE3-like transcript was up-regulated during postnatal development, suggesting direct or indirect regulation by androgen.


Mapping

By Southern blot analysis, Kirchhoff et al. (1994) found evidence of 3 independent nonallelic HE3-related genes, HE3A, HE3B, and HE3-gamma (HE3G). HE3G appeared to be a classic pseudogene.


REFERENCES

  1. Kirchhoff, C., Osterhoff, C., Habben, I., Ivell, R. Cloning and analysis of mRNAs expressed specifically in the human epididymis. Int. J. Androl. 13: 155-167, 1990. Note: Erratum: Int. J. Androl. 13: 327 only, 1990. [PubMed: 1693137] [Full Text: https://doi.org/10.1111/j.1365-2605.1990.tb00972.x]

  2. Kirchhoff, C., Pera, I., Rust, W., Ivell, R. Major human epididymis-specific gene product, HE3, is the first representative of a novel gene family. Molec. Reprod. Dev. 37: 130-137, 1994. [PubMed: 7514008] [Full Text: https://doi.org/10.1002/mrd.1080370203]


Creation Date:
Stefanie A. Nelson : 11/5/2007

Edit History:
carol : 10/01/2013
carol : 12/17/2012
terry : 6/6/2008
carol : 11/5/2007