Serpind1 MGI Mouse Gene Detail - MGI:96051 - serine (or cysteine) peptidase inhibitor, clade D, member 1

Symbol

Serpind1
Name

serine (or cysteine) peptidase inhibitor, clade D, member 1
Synonyms

Hcf2, HC II, HCII, heparin cofactor II

Feature Type

protein coding gene
IDs

MGI:96051
NCBI Gene: 15160
Alliance

gene page
Transcription Start Sites

5 TSS

Sequence Map

Chr16:17149235-17161438 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 16, 10.74 cM
Mapping Data

10 experiments

SNPs within 2kb

373 from dbSNP Build 142
Strain Annotations

18
RFLP

2

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_96051	protein coding gene	Chr16:17149235-17161439 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0022578	protein coding gene	Chr16:14476634-14488837 (+)
A/J	MGP_AJ_G0022539	protein coding gene	Chr16:13756795-13768989 (+)
AKR/J	MGP_AKRJ_G0022516	protein coding gene	Chr16:14300247-14312452 (+)
BALB/cJ	MGP_BALBcJ_G0022542	protein coding gene	Chr16:13899340-13911544 (+)
C3H/HeJ	MGP_C3HHeJ_G0022309	protein coding gene	Chr16:14438742-14450946 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0022993	protein coding gene	Chr16:14705170-14717372 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0020513	protein coding gene	Chr16:13828189-13841508 (+)
CAST/EiJ	MGP_CASTEiJ_G0021837	protein coding gene	Chr16:14349509-14362040 (+)
CBA/J	MGP_CBAJ_G0022280	protein coding gene	Chr16:15377975-15390163 (+)
DBA/2J	MGP_DBA2J_G0022410	protein coding gene	Chr16:13679546-13691791 (+)
FVB/NJ	MGP_FVBNJ_G0022386	protein coding gene	Chr16:13721465-13733669 (+)
LP/J	MGP_LPJ_G0022477	protein coding gene	Chr16:14233730-14245938 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0022407	protein coding gene	Chr16:15057452-15069656 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0023004	protein coding gene	Chr16:14234428-14246632 (+)
PWK/PhJ	MGP_PWKPhJ_G0021580	protein coding gene	Chr16:13923022-13935479 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0021408	protein coding gene	Chr16:14222402-14234706 (+)
WSB/EiJ	MGP_WSBEiJ_G0021884	protein coding gene	Chr16:14240091-14252291 (+)

Human Ortholog

SERPIND1, serpin family D member 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

SERPIND1, serpin family D member 1
Synonyms

D22S673, HC2, HCF2, HCII, HLS2, LS2, THPH10
Links

HGNC:4838

NCBI Gene ID: 3053

neXtProt AC: NX_P05546

UniProt: P05546
Chr Location

22q11.21; chr22:20774113-20787720 (+) GRCh38

MGI Vertebrate Homology

Serpind1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: SERPIND1
Gene Tree

Serpind1

Diseases

2 with human SERPIND1 associations

				Human Disease	Mouse Models
				disease by infectious agent IDs disease by infectious agent DOID:0050117 DOID:10115 DOID:11078 DOID:1304 DOID:1321 DOID:2040 DOID:2288 DOID:3099 DOID:4120 DOID:4620 DOID:5256 DOID:945 DOID:95 DOID:9532 DOID:9696 ICD9CM:079.0 UMLS_CUI:C0001485
				heparin cofactor II deficiency IDs heparin cofactor II deficiency DOID:0111901 MESH:C562865 OMIM:612356 UMLS_CUI:C0398626

Click on a disease name to see all genes associated with that disease.

References

1 with disease annotations

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Phenotype Summary

7 phenotypes from 2 alleles in 3 genetic backgrounds
3 phenotypes from multigenic genotypes
13 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

5
Endonuclease-mediated

2
Gene trapped

1
Targeted

2
Genomic Mutations

1 involving Serpind1
Incidental Mutations

APF
Find Mice (IMSR)

21 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for disruptions in this gene display a normal phenotype.

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All GO Annotations

7
GO References

3

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

725
Tissues

1
cDNA Data

42
Literature Summary

3

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

GEISHA SERPIND1

Xenbase serpind1

ZFIN serpind1

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All Sequences

45
RefSeq

4
UniProt

2
CCDS

CCDS28000.1

Ensembl

ENSMUSG00000022766 (Evidence)
NCBI Gene

15160

			Length	Strain/Species	Flank
genomic	15160	NCBI Gene Model \| MGI Sequence Detail	12204	C57BL/6J	± kb
transcript	NM_008223	RefSeq \| MGI Sequence Detail	2201	ZRU/MplStud
polypeptide	P49182	UniProt \| EBI \| MGI Sequence Detail	478	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000014701 heparin cofactor 2

(term hierarchy)
InterPro Domains

IPR033831 Heparin cofactor II, serpin domain

IPR023795 Serpin, conserved site

IPR023796 Serpin domain

IPR000215 Serpin family

IPR036186 Serpin superfamily

IPR042178 Serpin superfamily, domain 1

IPR042185 Serpin superfamily, domain 2
GlyGen

P49182 5 sites, 2 N-linked glycans (2 sites), 1 O-linked glycan (1 site)

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All nucleic 50

Genomic 8

cDNA 42

Microarray probesets 3

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MGD-MRK-10665, MGI:2146372, MGI:2146402

Summaries

All 46

Developmental Gene Expression 3

Diseases 1

Gene Ontology 3

Phenotypes 13
Earliest

J:17526 Zhang GS, et al., Murine heparin cofactor II: purification, cDNA sequence, expression, and gene structure [published erratum appears in Biochemistry 1994 Jun 21;33(24):7744]. Biochemistry. 1994 Mar 29;33(12):3632-42
Latest

J:348704 Vong KI, et al., Risk of meningomyelocele mediated by the common 22q11.2 deletion. Science. 2024 May 3;384(6695):584-590

TSS for Serpind1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr137289	Chr16:17149238-17149291 (+)	30 bp
Tssr137290	Chr16:17154101-17154114 (+)	4,873 bp
Tssr137291	Chr16:17154123-17154174 (+)	4,914 bp
Tssr137292	Chr16:17154333-17154348 (+)	5,106 bp
Tssr137293	Chr16:17154409-17154418 (+)	5,179 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/12/2024 MGI 6.24