Itih4 MGI Mouse Gene Detail - MGI:109536 - inter alpha-trypsin inhibitor, heavy chain 4

Symbol

Itih4
Name

inter alpha-trypsin inhibitor, heavy chain 4
Synonyms

Itih-4

Feature Type

protein coding gene
IDs

MGI:109536
NCBI Gene: 16427
Alliance

gene page
Transcription Start Sites

22 TSS

Sequence Map

Chr14:30608433-30623943 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 14, 19.09 cM
Mapping Data

1 experiment

SNPs within 2kb

568 from dbSNP Build 142
Strain Annotations

18
RFLP

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_109536	protein coding gene	Chr14:30608433-30624310 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0021110	protein coding gene	Chr14:24034003-24052760 (+)
A/J	MGP_AJ_G0021058	protein coding gene	Chr14:23139800-23155157 (+)
AKR/J	MGP_AKRJ_G0021035	protein coding gene	Chr14:24250599-24268382 (+)
BALB/cJ	MGP_BALBcJ_G0021062	protein coding gene	Chr14:23239289-23255713 (+)
C3H/HeJ	MGP_C3HHeJ_G0020845	protein coding gene	Chr14:24110710-24126037 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0021494	protein coding gene	Chr14:24999052-25017913 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0019057	protein coding gene	Chr14:23196901-23215370 (+)
CAST/EiJ	MGP_CASTEiJ_G0020370	protein coding gene	Chr14:23864924-23884618 (+)
CBA/J	MGP_CBAJ_G0020812	protein coding gene	Chr14:25948968-25969607 (+)
DBA/2J	MGP_DBA2J_G0020934	protein coding gene	Chr14:23164470-23180662 (+)
FVB/NJ	MGP_FVBNJ_G0020918	protein coding gene	Chr14:23121355-23137538 (+)
LP/J	MGP_LPJ_G0021003	protein coding gene	Chr14:24362583-24382280 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0020944	protein coding gene	Chr14:25225362-25240675 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0021527	protein coding gene	Chr14:24001889-24018657 (+)
PWK/PhJ	MGP_PWKPhJ_G0020118	protein coding gene	Chr14:22612769-22628756 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0019942	protein coding gene	Chr14:23587275-23604662 (+)
WSB/EiJ	MGP_WSBEiJ_G0020425	protein coding gene	Chr14:24063649-24082612 (+)

Human Ortholog

ITIH4, inter-alpha-trypsin inhibitor heavy chain 4

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

ITIH4, inter-alpha-trypsin inhibitor heavy chain 4
Synonyms

GP120, H4P, IHRP, ITI-HC4, ITIHL1, PK-120, PK120
Links

HGNC:6169

NCBI Gene ID: 3700

neXtProt AC: NX_Q14624

UniProt: Q14624
Chr Location

3p21.1; chr3:52812962-52830688 (-) GRCh38

MGI Vertebrate Homology

Itih4 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: ITIH4
Gene Tree

Itih4

Diseases

2 with human ITIH4 associations

				Human Disease	Mouse Models
				intermediate coronary syndrome IDs intermediate coronary syndrome DOID:8805 ICD10CM:I20.0 ICD9CM:411.1 MESH:D000789 NCI:C66911 UMLS_CUI:C0002965
				myocardial infarction IDs myocardial infarction DOID:5844 EFO:0000612 ICD10CM:I21 MESH:D009203 NCI:C27996 OMIM:608557 UMLS_CUI:C0027051

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

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Phenotype Summary

2 phenotypes from 2 alleles in 2 genetic backgrounds
3 phenotypes from multigenic genotypes
11 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

11
Endonuclease-mediated

4
Targeted

7
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

61 strains or lines available

Mice homozygous for a knock-out allele are viable, fertile and overtly normal. Surprisingly, IL-6/STAT3 signaling is significantly suppressed in mutant liver tissues but hepatocytes remain well differentiated.

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All GO Annotations

13
GO References

8

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

740
Tissues

24
cDNA Data

125
Literature Summary

6

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase itih4

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All Sequences

53
RefSeq

8
UniProt

4
CCDS

CCDS26901.1, CCDS49433.1, CCDS70558.1, CCDS79286.1

Ensembl

ENSMUSG00000021922 (Evidence)
NCBI Gene

16427

			Length	Strain/Species	Flank
genomic	16427	NCBI Gene Model \| MGI Sequence Detail	15511	C57BL/6J	± kb
transcript	NM_018746	RefSeq \| MGI Sequence Detail	3164	ZRU/MplStud
polypeptide	A6X935	UniProt \| EBI \| MGI Sequence Detail	942	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000009149 inter-alpha-trypsin inhibitor heavy chain H4

(term hierarchy)
InterPro Domains

IPR050934 Inter-alpha-trypsin inhibitor heavy chain

IPR010600 Inter-alpha-trypsin inhibitor heavy chain, C-terminal

IPR013694 VIT domain

IPR036465 von Willebrand factor A-like domain superfamily

IPR002035 von Willebrand factor, type A
GlyGen

A6X935 6 sites, 4 N-linked glycans (3 sites), 1 O-linked glycan (1 site)

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All nucleic 131

cDNA 127

Primer pair 4

Microarray probesets 3

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MGD-MRK-39535

Summaries

All 40

Developmental Gene Expression 6

Gene Ontology 8

Phenotypes 11
Earliest

J:19957 Heller DL, et al., A highly conserved mouse gene with a propensity to form pseudogenes in mammals. Mol Cell Biol. 1988 Jul;8(7):2797-803
Latest

J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Itih4:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr124874	Chr14:30608368-30608381 (+)	-58 bp
Tssr124875	Chr14:30608415-30608440 (+)	-5 bp
Tssr124876	Chr14:30608450-30608467 (+)	26 bp
Tssr124877	Chr14:30608478-30608489 (+)	51 bp
Tssr124878	Chr14:30611569-30611580 (+)	3,142 bp
Tssr124879	Chr14:30611851-30611861 (+)	3,423 bp
Tssr124880	Chr14:30612118-30612126 (+)	3,689 bp
Tssr124881	Chr14:30612601-30612627 (+)	4,181 bp
Tssr124882	Chr14:30613356-30613374 (+)	4,932 bp
Tssr124883	Chr14:30613663-30613703 (+)	5,250 bp
Tssr124884	Chr14:30613988-30614009 (+)	5,566 bp
Tssr124885	Chr14:30614295-30614314 (+)	5,872 bp
Tssr124886	Chr14:30614531-30614545 (+)	6,105 bp
Tssr124887	Chr14:30614561-30614572 (+)	6,134 bp
Tssr124888	Chr14:30614630-30614648 (+)	6,206 bp
Tssr124889	Chr14:30617357-30617369 (+)	8,930 bp
Tssr124890	Chr14:30617387-30617405 (+)	8,963 bp
Tssr124891	Chr14:30617421-30617441 (+)	8,998 bp
Tssr124892	Chr14:30618555-30618593 (+)	10,141 bp
Tssr124893	Chr14:30618882-30618892 (+)	10,454 bp
Tssr124894	Chr14:30620668-30620698 (+)	12,250 bp
Tssr124895	Chr14:30620705-30620714 (+)	12,277 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