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Alternative titles; symbolsKALLIKREIN 12KALLIKREIN-LIKE 5; KLKL5HGNC Approved Gene Symbol: KLK12Cytogenetic location: 19q13.41 Genomic coordinates (GRCh38): ...

Alternative titles; symbols


HGNC Approved Gene Symbol: KLK12

Cytogenetic location: 19q13.41 Genomic coordinates (GRCh38): 19:51,028,953-51,035,647 (from NCBI)

▼ Description

KLK12 belongs to the kallikrein subgroup of serine proteases, which have diverse physiologic functions in many tissues. For background information on kallikreins, see 147960.

▼ Cloning and Expression

Using the positional candidate gene approach, Yousef et al. (2000) identified KLK12, which they called KLKL5, in a 300-kb region on chromosome 19q13.3-q13.4, where other kallikrein genes are localized. They determined that the KLK12 gene is subject to alternative splicing and exists in 3 molecular forms. What they termed the 'classic' KLK12 form contains 5 coding exons producing a deduced 248-amino acid protein with a predicted molecular mass of 26.7 kD. In the second mRNA form, the last exon is split into 2 separate exons with an additional intervening intron, producing a deduced 254-amino acid protein with a predicted molecular mass of 27.1 kD. In the third mRNA form, the fourth exon is missing, producing a deduced 111-amino acid protein with a molecular mass of 12 kD. RT-PCR demonstrated that KLK12 is expressed primarily in salivary gland, stomach, uterus, trachea, prostate, thymus, lung, colon, brain, breast, and thyroid gland and at lower levels in testis, pancreas, small intestine, and spinal cord.

▼ Gene Function

Yousef et al. (2000) presented preliminary results indicating that expression of KLK12 is downregulated at the mRNA level in breast cancer tissues and is upregulated by steroid hormones in breast and prostate cancer cell lines.

▼ Gene Structure

Yousef et al. (2000) determined that the KLK12 gene contains 5 alternatively spliced coding exons. Elliott et al. (2006) reported that the KLK12 gene contains 6 exons, the first of which is noncoding.

▼ Mapping

Harvey et al. (2000) mapped the KLK12 gene to chromosome 19q13.4 in the KLK gene cluster between KLK11 (602673) and KLK13 (605505). They noted that KLK5 (605643) to KLK14 are transcribed telomere to centromere.

Tags: 19q13.41