H4C3 (H4 clustered histone 3) - Rat Genome Database

Name: H4C3
Creator: Rat Genome Database
License: Creative Commons CC BY 4.0
Keywords: Rat Gene RGD Genome

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Gene: H4C3 (H4 clustered histone 3) Homo sapiens

Analyze

Symbol:

H4C3

Name:

H4 clustered histone 3

RGD ID:

1352928

HGNC Page

HGNC

Description:

Enables protein domain specific binding activity. Involved in chromatin assembly and negative regulation of megakaryocyte differentiation. Located in CENP-A containing nucleosome and nuclear chromosome. Part of nucleosome.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

dJ221C16.1; H4 histone family, member G; H4-16; H4/g; H4C1; H4C11; H4C12; H4C13; H4C14; H4C15; H4C2; H4C4; H4C5; H4C6; H4C8; H4C9; H4FG; HIST1H4A; HIST1H4B; HIST1H4C; HIST1H4D; HIST1H4E; HIST1H4F; HIST1H4H; HIST1H4I; HIST1H4J; HIST1H4K; HIST1H4L; HIST2H4A; HIST2H4B; HIST4H4; histone 1, H4c; histone cluster 1 H4 family member c; histone cluster 1, H4c; histone H4; TEVANED1

RGD Orthologs

Rat

Squirrel

Alliance Genes

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	6	26,103,933 - 26,104,337 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p13 Ensembl	6	26,103,933 - 26,104,337 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	6	26,104,161 - 26,104,565 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	6	26,212,140 - 26,212,544 (+)	NCBI	NCBI36		hg18	NCBI36
Build 34	6	26,212,154 - 26,212,544	NCBI
Celera	6	27,333,446 - 27,333,850 (+)	NCBI
Cytogenetic Map	6	p22.2	NCBI
HuRef	6	26,047,237 - 26,047,626 (+)	NCBI		HuRef
CHM1_1	6	26,106,435 - 26,106,824 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	6	25,972,081 - 25,972,485 (+)	NCBI

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

Craniofacial Abnormalities (EXP)

Growth Disorders (EXP)

intellectual disability (EXP)

microcephaly (EXP)

TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1 (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(-)-demecolcine (EXP)

2,3-dimethoxynaphthalene-1,4-dione (EXP)

2-methylcholine (EXP)

3-isobutyl-1-methyl-7H-xanthine (EXP)

5-fluorouracil (EXP)

aflatoxin B1 (EXP)

all-trans-retinoic acid (EXP)

antimony(0) (EXP)

arsenous acid (EXP)

atrazine (EXP)

Azaspiracid (EXP)

benzo[a]pyrene (EXP)

benzo[a]pyrene diol epoxide I (EXP)

benzo[e]pyrene (EXP)

berberine (EXP)

bis(2-chloroethyl) sulfide (EXP)

bisphenol A (EXP)

bisphenol F (EXP)

cadmium dichloride (EXP)

calcitriol (EXP)

carbon nanotube (EXP)

chlorambucil (EXP)

chloropicrin (EXP)

chromium atom (EXP)

cisplatin (EXP)

cobalt dichloride (EXP)

copper atom (EXP)

copper(0) (EXP)

copper(II) sulfate (EXP)

cyclosporin A (EXP)

cytarabine (EXP)

dexamethasone (EXP)

diarsenic trioxide (EXP)

dicrotophos (EXP)

dinophysistoxin 1 (EXP)

dipotassium bis[mu-tartrato(4-)]diantimonate(2-) trihydrate (EXP)

disodium selenite (EXP)

doxorubicin (EXP)

ethanol (EXP)

gemcitabine (EXP)

hydrogen peroxide (EXP)

hydroquinone (EXP)

indometacin (EXP)

irinotecan (EXP)

Licochalcone B (EXP)

lucanthone (EXP)

menadione (EXP)

mercury atom (EXP)

mercury(0) (EXP)

methapyrilene (EXP)

methylmercury chloride (EXP)

N-Nitrosopyrrolidine (EXP)

nickel dichloride (EXP)

okadaic acid (EXP)

palbociclib (EXP)

paracetamol (EXP)

piroxicam (EXP)

potassium dichromate (EXP)

quercetin (EXP)

sodium arsenite (EXP)

tamibarotene (EXP)

tert-butyl hydroperoxide (EXP)

testosterone (EXP)

troglitazone (EXP)

urethane (EXP)

versicolorin A (EXP)

vincristine (EXP)

zidovudine (EXP)

zoledronic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

DNA replication-dependent chromatin assembly (IDA)

DNA replication-independent chromatin assembly (IDA)

DNA-templated transcription, initiation (IEA)

negative regulation of megakaryocyte differentiation (IDA)

nucleosome assembly (IBA,IDA)

protein localization to CENP-A containing chromatin (IC)

telomere organization (TAS)

Cellular Component

CENP-A containing nucleosome (IPI)

chromosome (IEA)

chromosome, telomeric region (HDA)

extracellular exosome (HDA)

extracellular region (TAS)

membrane (HDA)

nuclear chromosome (IDA)

nucleoplasm (IEA,TAS)

nucleosome (IDA,IEA,IPI,TAS)

nucleus (HDA,IDA,IEA)

protein-containing complex (IDA)

Molecular Function

DNA binding (IBA,IEA,TAS)

protein binding (IPI)

protein domain specific binding (IPI)

protein heterodimerization activity (IEA)

RNA binding (HDA)

structural constituent of chromatin (IEA)

Molecular Pathway Annotations Click to see Annotation Detail View

systemic lupus erythematosus pathway (IEA)

References

References - curated


1.	Pipeline to import KEGG annotations from KEGG into RGD
2.	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:3035717	PMID:7626218	PMID:9119399	PMID:9439656	PMID:9540062	PMID:9566873	PMID:10220385	PMID:11080476	PMID:11689053	PMID:12408966	PMID:12477932	PMID:14585971
PMID:14657027	PMID:14718166	PMID:15161933	PMID:15556009	PMID:15670829	PMID:15933069	PMID:16415788	PMID:16917504	PMID:17540172	PMID:17675446	PMID:18051367	PMID:18404153
PMID:18408754	PMID:18474616	PMID:18571423	PMID:19135898	PMID:19199708	PMID:19410544	PMID:19494831	PMID:19498464	PMID:19710015	PMID:19738201	PMID:19862764	PMID:19946888
PMID:20000738	PMID:20224553	PMID:20458337	PMID:20498094	PMID:20525793	PMID:20587610	PMID:20618440	PMID:20686565	PMID:20709061	PMID:20739937	PMID:20800603	PMID:20951943
PMID:21081503	PMID:21085121	PMID:21145461	PMID:21164480	PMID:21478274	PMID:21596426	PMID:21630459	PMID:21636898	PMID:21743476	PMID:21800051	PMID:21812398	PMID:21873635
PMID:21888893	PMID:21907836	PMID:21983900	PMID:22145905	PMID:22343720	PMID:22368283	PMID:22373579	PMID:22615379	PMID:22623428	PMID:22658674	PMID:22681889	PMID:23071334
PMID:23075851	PMID:23142979	PMID:23376485	PMID:23377543	PMID:23533145	PMID:23760478	PMID:23831576	PMID:23979707	PMID:24183680	PMID:24311584	PMID:24360279	PMID:24361270
PMID:24525235	PMID:24596249	PMID:24699735	PMID:24711643	PMID:24726341	PMID:24981860	PMID:25281266	PMID:25416956	PMID:25556234	PMID:25579814	PMID:25615412	PMID:25619998
PMID:25651062	PMID:25910212	PMID:25963833	PMID:26167883	PMID:26496610	PMID:26694698	PMID:26725010	PMID:26912361	PMID:27153538	PMID:28514442	PMID:28902428	PMID:28920961
PMID:28977666	PMID:29507755	PMID:29676528	PMID:29844126	PMID:30021884	PMID:30554943	PMID:31142837	PMID:31759698	PMID:31790919	PMID:32296183	PMID:32545337	PMID:32814053
PMID:33080218	PMID:33857403	PMID:33961781

Genomics

Comparative Map Data

H4C3
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	6	26,103,933 - 26,104,337 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p13 Ensembl	6	26,103,933 - 26,104,337 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	6	26,104,161 - 26,104,565 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	6	26,212,140 - 26,212,544 (+)	NCBI	NCBI36		hg18	NCBI36
Build 34	6	26,212,154 - 26,212,544	NCBI
Celera	6	27,333,446 - 27,333,850 (+)	NCBI
Cytogenetic Map	6	p22.2	NCBI
HuRef	6	26,047,237 - 26,047,626 (+)	NCBI		HuRef
CHM1_1	6	26,106,435 - 26,106,824 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	6	25,972,081 - 25,972,485 (+)	NCBI

H4c3
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Rnor_6.0	4	170,144,871 - 170,145,311 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	4	170,144,951 - 170,145,262 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	4	234,404,771 - 234,406,867 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
Cytogenetic Map	4	q43	NCBI

LOC101972801
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024404946	1,667,931 - 1,668,479 (-)	NCBI
SpeTri2.0	NW_004936671	1,953,045 - 1,953,612 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

Position Markers

RH103644

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	26,102,641 - 26,102,773	UniSTS	GRCh37
Build 36	6	26,210,620 - 26,210,752	RGD	NCBI36
Celera	6	27,331,925 - 27,332,057	RGD
Cytogenetic Map	6	p22.1	UniSTS
HuRef	6	26,045,701 - 26,045,833	UniSTS
GeneMap99-GB4 RH Map	6	105.5	UniSTS

RH103651

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	26,104,387 - 26,104,516	UniSTS	GRCh37
Build 36	6	26,212,366 - 26,212,495	RGD	NCBI36
Celera	6	27,333,672 - 27,333,801	RGD
Cytogenetic Map	6	p22.1	UniSTS
HuRef	6	26,047,448 - 26,047,577	UniSTS
GeneMap99-GB4 RH Map	6	105.76	UniSTS

RH70851

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	26,104,483 - 26,104,684	UniSTS	GRCh37
Build 36	6	26,212,462 - 26,212,663	RGD	NCBI36
Celera	6	27,333,768 - 27,333,969	RGD
Cytogenetic Map	6	p22.1	UniSTS
HuRef	6	26,047,544 - 26,047,745	UniSTS
GeneMap99-GB4 RH Map	6	105.76	UniSTS

Expression

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_003542	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AY128656	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC130558	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC130560	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471087	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068272	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U91328	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	X60486	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Reference Sequences

RefSeq Acc Id:

ENST00000377803 ⟹ ENSP00000367034

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	6	26,103,933 - 26,104,337 (+)	Ensembl

RefSeq Acc Id:

NM_003542 ⟹ NP_003533

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	26,103,933 - 26,104,337 (+)	NCBI
GRCh37	6	26,104,176 - 26,104,565 (+)	ENTREZGENE
Build 36	6	26,212,155 - 26,212,544 (+)	NCBI Archive
Celera	6	27,333,446 - 27,333,850 (+)	RGD
HuRef	6	26,047,237 - 26,047,626 (+)	ENTREZGENE
CHM1_1	6	26,106,435 - 26,106,824 (+)	NCBI
T2T-CHM13v2.0	6	25,972,081 - 25,972,485 (+)	NCBI

Sequence:

show sequence

ACTGCGATAGGAATCATGTCTGGTCGCGGCAAAGGCGGAAAAGGCTTGGGGAAGGGTGGTGCTA
AGCGCCATCGTAAGGTGCTCCGGGATAACATCCAGGGCATTACAAAACCGGCTATTCGCCGTTT
GGCTCGGCGCGGTGGCGTCAAGCGCATTTCCGGTCTTATCTATGAGGAGACTCGAGGTGTGCTT
AAGGTTTTCTTAGAGAACGTTATTCGAGACGCCGTCACCTATACGGAGCACGCCAAGCGCAAAA
CTGTCACAGCCATGGATGTAGTATATGCCCTAAAACGTCAGGGGCGCACTCTGTATGGCTTCGG
CGGCTGAATCTAAGAATACGCGGTCTCCTGAGAACTTCAAAAAACAAAAACAAAAAAACCCAAA
GGCCCTTTTCAGGGCCGCTCA

hide sequence

Protein Sequences


Protein RefSeqs	NP_003533	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAI30559	(Get FASTA)	NCBI Sequence Viewer
	AAI30561	(Get FASTA)	NCBI Sequence Viewer
	AAN01441	(Get FASTA)	NCBI Sequence Viewer
	CAA43016	(Get FASTA)	NCBI Sequence Viewer
	EAW55528	(Get FASTA)	NCBI Sequence Viewer
	P62805	(Get FASTA)	NCBI Sequence Viewer

Reference Sequences

RefSeq Acc Id:	NP_003533 ⟸ NM_003542
- UniProtKB:	P62805 (UniProtKB/Swiss-Prot), B2R4R0 (UniProtKB/TrEMBL)
- Sequence:	show sequence MSGRGKGGKGLGKGGAKRHRKVLRDNIQGITKPAIRRLARRGGVKRISGLIYEETRGVLKVFLE NVIRDAVTYTEHAKRKTVTAMDVVYALKRQGRTLYGFGG hide sequence

RefSeq Acc Id:

ENSP00000367034 ⟸ ENST00000377803

Protein Domains

TAF

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-P62805-F1-model_v2	AlphaFold	P62805	1-103	view protein structure

Promoters

RGD ID:

6804312

Promoter ID:

HG_KWN:52580

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4

Transcripts:

ENST00000377803

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	6	26,212,019 - 26,212,519 (+)	MPROMDB

RGD ID:

6849404

Promoter ID:

EP49012

Type:

single initiation site

Name:

HS_HIST1H4C

Description:

Histone H4c.

SO ACC ID:

SO:0000170

Source:

EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Notes:

homology_group=Homology group 220; Mammalian testicular histone H4 gene.

Tissues & Cell Lines:

testicular and nontesticular cells

Experiment Methods:

Nuclease protection with homologous sequence ladder

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	6	26,212,141 - 26,212,201	EPD

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 6p22.3-21.33(chr6:18120520-30767516)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052180]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052180]\|See cases [RCV000052180]	Chr6:18120520..30767516 [GRCh38] Chr6:18120751..30735293 [GRCh37] Chr6:18228730..30843272 [NCBI36] Chr6:6p22.3-21.33	pathogenic
GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	copy number gain	See cases [RCV000138956]	Chr6:3224310..30657190 [GRCh38] Chr6:3224544..30624967 [GRCh37] Chr6:3169543..30732946 [NCBI36] Chr6:6p25.2-21.33	pathogenic
GRCh38/hg38 6p22.2(chr6:25991402-26280693)x3	copy number gain	See cases [RCV000139521]	Chr6:25991402..26280693 [GRCh38] Chr6:25991630..26280921 [GRCh37] Chr6:26099609..26388900 [NCBI36] Chr6:6p22.2	likely benign
GRCh38/hg38 6p22.2(chr6:25991391-26116829)x3	copy number gain	See cases [RCV000140950]	Chr6:25991391..26116829 [GRCh38] Chr6:25991619..26117057 [GRCh37] Chr6:26099598..26225036 [NCBI36] Chr6:6p22.2	likely benign
GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	copy number gain	See cases [RCV000143497]	Chr6:156974..46789291 [GRCh38] Chr6:156974..46757028 [GRCh37] Chr6:101974..46864987 [NCBI36] Chr6:6p25.3-12.3	pathogenic
GRCh37/hg19 6p22.2(chr6:26104332-26365573)x4	copy number gain	Ductal breast carcinoma [RCV000207323]	Chr6:26104332..26365573 [GRCh37] Chr6:6p22.2	uncertain significance
GRCh37/hg19 6p22.2(chr6:25839165-26536884)x4	copy number gain	See cases [RCV000447433]	Chr6:25839165..26536884 [GRCh37] Chr6:6p22.2	uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	copy number gain	See cases [RCV000512067]	Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	copy number gain	See cases [RCV000510595]	Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6p22.2(chr6:25851789-26319486)x3	copy number gain	not provided [RCV000682656]	Chr6:25851789..26319486 [GRCh37] Chr6:6p22.2	uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3	copy number gain	not provided [RCV000745403]	Chr6:108666..170980171 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3	copy number gain	not provided [RCV000745400]	Chr6:60107..171054786 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3	copy number gain	not provided [RCV000745404]	Chr6:165632..170919470 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6p22.2(chr6:26067079-26207758)x1	copy number loss	not provided [RCV000849592]	Chr6:26067079..26207758 [GRCh37] Chr6:6p22.2	uncertain significance
GRCh37/hg19 6p22.2(chr6:26067580-26306202)x3	copy number gain	not provided [RCV000849663]	Chr6:26067580..26306202 [GRCh37] Chr6:6p22.2	uncertain significance
GRCh37/hg19 6p22.2(chr6:25996066-26303969)x3	copy number gain	not provided [RCV000847447]	Chr6:25996066..26303969 [GRCh37] Chr6:6p22.2	uncertain significance
GRCh37/hg19 6p22.2(chr6:25896585-26287389)x4	copy number gain	not provided [RCV000845790]	Chr6:25896585..26287389 [GRCh37] Chr6:6p22.2	uncertain significance
NM_003542.4(H4C3):c.105T>C (p.Ile35=)	single nucleotide variant	not provided [RCV001644006]	Chr6:26104052 [GRCh38] Chr6:26104280 [GRCh37] Chr6:6p22.2	benign
NM_003542.4(H4C3):c.271C>T (p.Leu91=)	single nucleotide variant	not provided [RCV000888597]	Chr6:26104218 [GRCh38] Chr6:26104446 [GRCh37] Chr6:6p22.2	benign
NM_003542.4(H4C3):c.207C>T (p.Asp69=)	single nucleotide variant	not provided [RCV001541500]	Chr6:26104154 [GRCh38] Chr6:26104382 [GRCh37] Chr6:6p22.2	benign
NM_003542.4(H4C3):c.273A>G (p.Leu91=)	single nucleotide variant	not provided [RCV001710965]	Chr6:26104220 [GRCh38] Chr6:26104448 [GRCh37] Chr6:6p22.2	benign
NM_003542.4(H4C3):c.274A>C (p.Lys92Gln)	single nucleotide variant	HIST1H4C-associated disorder [RCV001254079]	Chr6:26104221 [GRCh38] Chr6:26104449 [GRCh37] Chr6:6p22.2	pathogenic
GRCh37/hg19 6p22.2(chr6:26046566-26670193)x3	copy number gain	not provided [RCV001258882]	Chr6:26046566..26670193 [GRCh37] Chr6:6p22.2	uncertain significance
GRCh37/hg19 6p22.2(chr6:26090243-26265667)x3	copy number gain	not provided [RCV001258883]	Chr6:26090243..26265667 [GRCh37] Chr6:6p22.2	uncertain significance
GRCh37/hg19 6p22.2(chr6:25839165-26536884)	copy number gain	not specified [RCV002053562]	Chr6:25839165..26536884 [GRCh37] Chr6:6p22.2	uncertain significance
NM_003542.4(H4C3):c.275A>G (p.Lys92Arg)	single nucleotide variant	Tessadori-van Haaften neurodevelopmental syndrome 1 [RCV001838837]	Chr6:26104222 [GRCh38] Chr6:26104450 [GRCh37] Chr6:6p22.2	pathogenic
GRCh37/hg19 6p22.2(chr6:26008259-26168230)x1	copy number loss	not provided [RCV001834493]	Chr6:26008259..26168230 [GRCh37] Chr6:6p22.2	pathogenic

Additional Information

External Database Links

Database	Acc Id	Source(s)
COSMIC	H4C3	COSMIC
Ensembl Genes	ENSG00000158406	UniProtKB/Swiss-Prot
	ENSG00000197061	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
	ENSG00000197238	UniProtKB/Swiss-Prot
	ENSG00000197837	UniProtKB/Swiss-Prot
	ENSG00000270276	UniProtKB/Swiss-Prot
	ENSG00000270882	UniProtKB/Swiss-Prot
	ENSG00000273542	UniProtKB/Swiss-Prot
	ENSG00000274618	UniProtKB/Swiss-Prot
	ENSG00000275126	UniProtKB/Swiss-Prot
	ENSG00000276180	UniProtKB/Swiss-Prot
	ENSG00000276966	UniProtKB/Swiss-Prot
	ENSG00000277157	UniProtKB/Swiss-Prot
	ENSG00000278637	UniProtKB/Swiss-Prot
	ENSG00000278705	UniProtKB/Swiss-Prot
Ensembl Protein	ENSP00000244537	UniProtKB/Swiss-Prot
	ENSP00000347168	UniProtKB/Swiss-Prot
	ENSP00000350767	UniProtKB/Swiss-Prot
	ENSP00000366956	UniProtKB/Swiss-Prot
	ENSP00000366974	UniProtKB/Swiss-Prot
	ENSP00000367034	ENTREZGENE, UniProtKB/Swiss-Prot
	ENSP00000443017	UniProtKB/Swiss-Prot
	ENSP00000462355	UniProtKB/Swiss-Prot
	ENSP00000462667	UniProtKB/Swiss-Prot
	ENSP00000478519	UniProtKB/Swiss-Prot
	ENSP00000478786	UniProtKB/Swiss-Prot
	ENSP00000479106	UniProtKB/Swiss-Prot
	ENSP00000479461	UniProtKB/Swiss-Prot
	ENSP00000479794	UniProtKB/Swiss-Prot
	ENSP00000480960	UniProtKB/Swiss-Prot
	ENSP00000481343	UniProtKB/Swiss-Prot
	ENSP00000481486	UniProtKB/Swiss-Prot
	ENSP00000481507	UniProtKB/Swiss-Prot
	ENSP00000482412	UniProtKB/Swiss-Prot
	ENSP00000484789	UniProtKB/Swiss-Prot
	ENSP00000489319	UniProtKB/Swiss-Prot
	ENSP00000489567	UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000244537	UniProtKB/Swiss-Prot
	ENST00000355057	UniProtKB/Swiss-Prot
	ENST00000358064	UniProtKB/Swiss-Prot
	ENST00000377727	UniProtKB/Swiss-Prot
	ENST00000377745	UniProtKB/Swiss-Prot
	ENST00000377803	ENTREZGENE, UniProtKB/Swiss-Prot
	ENST00000539745	UniProtKB/Swiss-Prot
	ENST00000578186	UniProtKB/Swiss-Prot
	ENST00000579512	UniProtKB/Swiss-Prot
	ENST00000611927	UniProtKB/Swiss-Prot
	ENST00000612061	UniProtKB/Swiss-Prot
	ENST00000613412	UniProtKB/Swiss-Prot
	ENST00000614247	UniProtKB/Swiss-Prot
	ENST00000614272	UniProtKB/Swiss-Prot
	ENST00000615164	UniProtKB/Swiss-Prot
	ENST00000615353	UniProtKB/Swiss-Prot
	ENST00000617569	UniProtKB/Swiss-Prot
	ENST00000618193	UniProtKB/Swiss-Prot
	ENST00000618305	UniProtKB/Swiss-Prot
	ENST00000621520	UniProtKB/Swiss-Prot
	ENST00000634560	UniProtKB/Swiss-Prot
	ENST00000634956	UniProtKB/Swiss-Prot
Gene3D-CATH	1.10.20.10	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000158406	GTEx
	ENSG00000197061	GTEx
	ENSG00000197238	GTEx
	ENSG00000197837	GTEx
	ENSG00000270276	GTEx
	ENSG00000270882	GTEx
	ENSG00000273542	GTEx
	ENSG00000274618	GTEx
	ENSG00000275126	GTEx
	ENSG00000276180	GTEx
	ENSG00000276966	GTEx
	ENSG00000277157	GTEx
	ENSG00000278637	GTEx
	ENSG00000278705	GTEx
HGNC ID	HGNC:4787	ENTREZGENE
Human Proteome Map	H4C3	Human Proteome Map
InterPro	CENP-T/H4_C	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Histone-fold	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Histone_H4	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Histone_H4_CS	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	TAF_TATA-bd	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:121504	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	hsa:554313	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	hsa:8294	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	hsa:8359	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	hsa:8360	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	hsa:8361	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	hsa:8362	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	hsa:8363	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	hsa:8364	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	hsa:8365	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	hsa:8366	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	hsa:8367	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	hsa:8368	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	hsa:8370	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene	8364	ENTREZGENE
OMIM	602827	OMIM
	619758	OMIM
Pfam	CENP-T_C	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA29162	PharmGKB
PRINTS	HISTONEH4	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE	HISTONE_H4	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	SM00417	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	TAF	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	SSF47113	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	B2R4R0	ENTREZGENE, UniProtKB/TrEMBL
	H4_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary	A2VCL0	UniProtKB/Swiss-Prot
	P02304	UniProtKB/Swiss-Prot
	P02305	UniProtKB/Swiss-Prot
	Q6DRA9	UniProtKB/Swiss-Prot
	Q6FGB8	UniProtKB/Swiss-Prot
	Q6NWP7	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2019-07-30	H4C3	H4 clustered histone 3	HIST1H4C	histone cluster 1 H4 family member c	Symbol and/or name change	5135510	APPROVED
2016-08-23	HIST1H4C	histone cluster 1 H4 family member c	HIST1H4C	histone cluster 1, H4c	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

Imported Annotations - KEGG (archival)

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

Imported Annotations - KEGG (archival)