Family Search for PF15756 (DUF4690)

PF15756 hits 2 sequences in PaperBLAST's database above the trusted cutoff. Showing all hits. Or show only hits to curated sequences or try another family.

SNORC_HUMAN / Q6UX34 Protein SNORC; Secondary ossification center-associated regulator of chondrocyte maturation protein from Homo sapiens (Human) (see paper)
NP_001381136 protein SNORC isoform c precursor from Homo sapiens
Aligns to 26:121 / 121 (79.3%), covers 100.0% of PF15756, 151.0 bits

• function: Plays a role in the regulation of chondrocyte maturation and postnatal endochondral ossification. May inhibit cell growth stimulation induced by FGF2.
  subunit: Interacts (via the extracellular domain) with FGF2.
• Exploring genetic variation that influences brain methylation in attention-deficit/hyperactivity disorder.
  Pineda-Cirera, Translational psychiatry 2019
  • GeneRIF: Attention-deficit/hyperactivity disorder (ADHD) risk alleles correlated with increased expression (and decreased methylation) of ARTN and PIDD1 and with a decreased expression (and increased methylation) of C2orf82.

SNORC_MOUSE / Q9CXL7 Protein SNORC; Secondary ossification center-associated regulator of chondrocyte maturation protein from Mus musculus (Mouse) (see 2 papers)
Aligns to 26:121 / 121 (79.3%), covers 100.0% of PF15756, 148.9 bits

• function: Plays a role in the regulation of chondrocyte maturation and postnatal endochondral ossification. May inhibit cell growth stimulation induced by FGF2.
  subunit: Interacts (via the extracellular domain) with FGF2.
  disruption phenotype: Mutants are born with the expected Mendelian frequency and show no differences in fertility, gross morphology or body weight (PubMed:28323137). Secondary ossification centers in knee epiphyses are smaller and growth plate maturation is disturbed, but total bone length is normal. Central proliferative and hypertrophic zones are enlarged with higher extracellular matrix volume and rounded chondrocyte morphology at postnatal days P10 and P22 (PubMed:28323137).

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