GenTIGS

Serine peptidase inhibitor Kazal type 5 (SPINK5) Associated conditions: 1. Netherton syndrome 2. Ichthyosis linearis circumflexa

mRNA Information: Transcript Variants and Protein Isoforms

SNo.	Status	mRNA accession	Protein accession	Genomic DNA accession (Chromosome)	mRNA location on genomic DNA	Assembly	UniProtkb ID
1	REVIEWED	NM_001127698.2	NP_001121170.1	NC_000005.10	(148063979..148137381)	Reference GRCh38.p14 Primary Assembly	Q9NQ38
2	REVIEWED	NM_001127699.2	NP_001121171.1	NC_000005.10	(148063979..148137381)	Reference GRCh38.p14 Primary Assembly	Q9NQ38
3	REVIEWED	NM_006846.4	NP_006837.2	NC_000005.10	(148063979..148137381)	Reference GRCh38.p14 Primary Assembly	Q9NQ38

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)

Link 193 reference articles

Variant Information Serine peptidase inhibitor Kazal type 5 (SPINK5) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene Serine peptidase inhibitor Kazal type 5 (SPINK5)

ClinVar variants:Revealing mutagenic patterns

GO Term of Serine peptidase inhibitor Kazal type 5 (SPINK5)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IEA	involved_in	negative regulation of antibacterial peptide production	Process	-
2	Homo sapiens	IBA	enables	serine-type endopeptidase inhibitor activity	Function	21873635
3	Homo sapiens	IDA	enables	serine-type endopeptidase inhibitor activity	Function	10419450 15680911
4	Homo sapiens	IDA	located_in	extracellular region	Component	15680911
5	Homo sapiens	NAS	located_in	extracellular region	Component	10419450
6	Homo sapiens	TAS	located_in	extracellular region	Component	-
7	Homo sapiens	IDA	located_in	cytoplasm	Component	12915442
8	Homo sapiens	IDA	located_in	endoplasmic reticulum	Component	15680911
9	Homo sapiens	IDA	located_in	endoplasmic reticulum membrane	Component	15680911
10	Homo sapiens	IDA	located_in	cytosol	Component	15680911
11	Homo sapiens	IDA	located_in	cell cortex	Component	12915442
12	Homo sapiens	IBA	involved_in	multicellular organism development	Process	21873635
13	Homo sapiens	IBA	involved_in	central nervous system development	Process	21873635
14	Homo sapiens	IDA	involved_in	epidermal cell differentiation	Process	12915442
15	Homo sapiens	TAS	involved_in	negative regulation of angiogenesis	Process	15680911
16	Homo sapiens	IBA	involved_in	cell differentiation	Process	21873635
17	Homo sapiens	IEA	involved_in	regulation of cell adhesion	Process	-
18	Homo sapiens	TAS	involved_in	extracellular matrix organization	Process	15680911
19	Homo sapiens	TAS	involved_in	epithelial cell differentiation	Process	12915442
20	Homo sapiens	TAS	involved_in	hair cell differentiation	Process	12915442
21	Homo sapiens	IDA	located_in	intracellular membrane-bounded organelle	Component	-
22	Homo sapiens	TAS	involved_in	regulation of T cell differentiation	Process	12915442
23	Homo sapiens	IEA	involved_in	negative regulation of proteolysis	Process	-
24	Homo sapiens	IDA	located_in	perinuclear region of cytoplasm	Component	15680911
25	Homo sapiens	TAS	involved_in	negative regulation of immune response	Process	12915442
26	Homo sapiens	TAS	involved_in	regulation of timing of anagen	Process	12915442
27	Homo sapiens	IDA	located_in	epidermal lamellar body	Component	15675955
28	Homo sapiens	IBA	involved_in	negative regulation of serine-type peptidase activity	Process	21873635