Heph MGI Mouse Gene Detail - MGI:1332240

Symbol

Heph
Name

hephaestin
Synonyms

C130006F04Rik, Cpl, mKIAA0698, sex linked anemia, sla

Feature Type

protein coding gene
IDs

MGI:1332240
NCBI Gene: 15203
Alliance

gene page
Transcription Start Sites

11 TSS

Sequence Map

ChrX:95499042-95618091 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome X, 42.69 cM
Mapping Data

5 experiments

SNPs within 2kb

2186 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1332240	protein coding gene	ChrX:95498965-95618091 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0035926	protein coding gene	ChrX:92847543-92971540 (+)
A/J	MGP_AJ_G0035912	protein coding gene	ChrX:92980499-93108716 (+)
AKR/J	MGP_AKRJ_G0035828	protein coding gene	ChrX:95482055-95632622 (+)
BALB/cJ	MGP_BALBcJ_G0035895	protein coding gene	ChrX:91738169-91850312 (+)
C3H/HeJ	MGP_C3HHeJ_G0035603	protein coding gene	ChrX:93307467-93427203 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0036424	protein coding gene	ChrX:95760920-95878780 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0033253	protein coding gene	ChrX:90936534-91034523 (+)
CAST/EiJ	MGP_CASTEiJ_G0034890	protein coding gene	ChrX:77783125-77891780 (+)
CBA/J	MGP_CBAJ_G0035579	protein coding gene	ChrX:98651811-98773395 (+)
DBA/2J	MGP_DBA2J_G0035733	protein coding gene	ChrX:92193692-92313914 (+)
FVB/NJ	MGP_FVBNJ_G0035671	protein coding gene	ChrX:91599324-91714294 (+)
LP/J	MGP_LPJ_G0035823	protein coding gene	ChrX:93827003-93942890 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0035706	protein coding gene	ChrX:102985537-103124236 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0036451	protein coding gene	ChrX:92536620-92658209 (+)
PWK/PhJ	MGP_PWKPhJ_G0034589	protein coding gene	ChrX:75462853-75571908 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0034418	protein coding gene	ChrX:78621670-78724025 (+)
WSB/EiJ	MGP_WSBEiJ_G0035029	protein coding gene	ChrX:91374658-91492475 (+)

Human Ortholog

HEPH, hephaestin

Vertebrate Orthologs

2

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

HEPH, hephaestin
Synonyms

CPL, Hp
Links

HGNC:4866

NCBI Gene ID: 9843

neXtProt AC: NX_Q9BQS7

UniProt: Q9BQS7
Chr Location

Xq12; chrX:66162671-66268867 (+) GRCh38

MGI Vertebrate Homology

Heph stringent orthology
1 human;1 mouse;1 rat
HCOP

vertebrate homology predictions: HEPH
Protein SuperFamily

Factors_V_VIII
Gene Tree

Heph

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Mutations/Alleles

1 with disease annotations

References

2 with disease annotations

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Phenotype Summary

31 phenotypes from 5 alleles in 8 genetic backgrounds
21 phenotypes from multigenic genotypes
3 images
43 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

8
Chemically induced (ENU)

1
Endonuclease-mediated

2
Radiation induced

1
Targeted

4
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

11 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Hemizygous male and homozygous female mutants are small and pale at birth, exhibit a hypochromic anemia which tends to disappear with age. Mutants have impaired iron transport in the placenta and in the gut.

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All GO Annotations

18
GO References

11

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

706
cDNA Data

47

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

GEISHA HEPH

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All Sequences

49
RefSeq

8
UniProt

3
CCDS

CCDS30289.1, CCDS30290.1

Ensembl

ENSMUSG00000031209 (Evidence)
NCBI Gene

15203

			Length	Strain/Species	Flank
genomic	15203	NCBI Gene Model \| MGI Sequence Detail	119050	C57BL/6J	± kb
transcript	NM_010417	RefSeq \| MGI Sequence Detail	4693	C57BL/6
polypeptide	Q9Z0Z4	UniProt \| EBI \| MGI Sequence Detail	1157	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000008511 hephaestin

(term hierarchy)
EC

1.16.3.1
InterPro Domains

IPR048236 Ceruloplasmin-like, fifth cupredoxin domain

IPR024715 Coagulation factor 5/8-like

IPR008972 Cupredoxin

IPR045087 Multicopper oxidase

IPR002355 Multicopper oxidase, copper-binding site

IPR011706 Multicopper oxidase, C-terminal

IPR011707 Multicopper oxidase-like, N-terminal

IPR033138 Multicopper oxidases, conserved site

IPR050633 Neuropilin/Multicopper Oxidase/Coagulation Factor
GlyGen

Q9Z0Z4 8 sites, 4 N-linked glycans (4 sites)

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All nucleic 49

Genomic 1

cDNA 48

Microarray probesets 3

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MGD-MRK-14436, MGI:2445196, MGI:98315

Summaries

All 74

Diseases 2

Gene Ontology 11

Phenotypes 43
Earliest

J:14 Falconer DS, et al., The genetics of sex-linked anaemia in the mouse. Genet Res. 1962;3(2):248-50
Latest

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

TSS for Heph:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr161570	ChrX:95499003-95499017 (+)	-32 bp
Tssr161571	ChrX:95499018-95499056 (+)	-5 bp
Tssr161572	ChrX:95499102-95499103 (+)	61 bp
Tssr5650	ChrX:95499108-95499111 (+)	68 bp
Tssr161573	ChrX:95499117-95499128 (+)	81 bp
Tssr161574	ChrX:95499135-95499205 (+)	128 bp
Tssr161575	ChrX:95499218-95499242 (+)	188 bp
Tssr161576	ChrX:95499950-95499962 (+)	914 bp
Tssr161577	ChrX:95499968-95499994 (+)	939 bp
Tssr161578	ChrX:95500010-95500047 (+)	987 bp
Tssr161579	ChrX:95500096-95500108 (+)	1,060 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)
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