SPINK6 - serine peptidase inhibitor Kazal type 6 Gene

Also Known as BUSI2; UNQ844

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 404203

About SPINK6

Cytogenetic location: 5q32 Genomic coordinates (GRCh38): 5:148,202,778-148,215,137 (from NCBI)

This gene has 3 transcripts (splice variants), 100 orthologues and 6 paralogues. Low expression observed in reference dataset.

Summary

The protein encoded by this gene is a Kazal-type Serine Protease Inhibitor that acts on kallikrein-related peptidases in the skin. Two transcript variants the same protein have been found for this gene. [provided by RefSeq, Aug 2010]

SPINK6 Products (2)

mRNA Protein Name
NM_001195290.2 NP_001182219.1 serine protease inhibitor Kazal-type 6 precursor
NM_205841.4 NP_995313.2 serine protease inhibitor Kazal-type 6 precursor

SPINK6 Protein Structure

Kazal_1

Kazal_1: Kazal-type serine protease inhibitor domain (30 - 80)

  • 0
  • 80 a.a.
Protein Preferred Names Protein Names

serine protease inhibitor Kazal-type 6

  • acrosin inhibitor

Related Diseases

Diseases Alias
Witkop Syndrome
  • Tooth And Nail Syndrome

  • Hypoplastic Enamel-Onycholysis-Hypohidrosis Syndrome

  • Tns

  • Ectodermal Dysplasia 3, Witkop Type

  • ECTD3

  • Ectodermal Dysplasia 3, Tooth/Nail Type

  • Tooth-And-Nail Syndrome

  • Dysplasia Of Nails With Hypodontia

  • Nail Dysplasia With Hypodontia

  • Witkop'S Syndrome

  • Hypodontia - Dysplasia Of Nails

  • Hypodontia-Dysplasia Of Nails Syndrome

  • Hypodontia-Nail Dysgenesis Syndrome

  • Hypodontia-Nail Dysgenesis

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus SPINK6 MGD MGI:3648654
Canis familiaris SPINK6 VGNC VGNC:53475
Macaca mulatta SPINK6 VGNC VGNC:110432
Rattus norvegicus SPINK6 RGD RGD:1303338
Others SPINK6 NCBI