ANKRD36C ankyrin repeat domain 36C [Homo sapiens (human)] - Gene

Summary

Official Symbol: ANKRD36Cprovided by HGNC
Official Full Name: ankyrin repeat domain 36Cprovided by HGNC
Primary source: HGNC:HGNC:32946
See related: Ensembl:ENSG00000174501 AllianceGenome:HGNC:32946
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Expression: Broad expression in testis (RPKM 4.6), bone marrow (RPKM 4.1) and 23 other tissues See more
Orthologs: all
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Genomic context

Location:: 2q11.1

Exon count:: 89

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (95848932..95991824, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (96339376..96482270)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (96514680..96657572, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Exome Sequencing Identifies Abnormalities in Glycosylation and ANKRD36C in Patients with Immune-Mediated Thrombotic Thrombocytopenic Purpura.
Title: Exome Sequencing Identifies Abnormalities in Glycosylation and ANKRD36C in Patients with Immune-Mediated Thrombotic Thrombocytopenic Purpura.

Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ion channel inhibitor activity	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: ankyrin repeat domain-containing protein 36C

Names: protein immuno-reactive with anti-PTH polyclonal antibodies

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001310154.3 → NP_001297083.1 ankyrin repeat domain-containing protein 36C isoform 1

See identical proteins and their annotated locations for NP_001297083.1

Status: VALIDATED

Source sequence(s)

AC013272, AC073995

UniProtKB/Swiss-Prot

C9JZ08, Q15694, Q53S06, Q5JPF3, Q658V2

Conserved Domains (6) summary

cd00204
Location:59 → 184

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

pfam12796
Location:69 → 157

Ank_2; Ankyrin repeats (3 copies)

pfam13637
Location:36 → 85

Ank_4; Ankyrin repeats (many copies)

pfam14662
Location:1620 → 1819

KASH_CCD; Coiled-coil region of CCDC155 or KASH

pfam14915
Location:1740 → 2030

CCDC144C; CCDC144C protein coiled-coil region

sd00045
Location:66 → 95

ANK; ANK repeat [structural motif]
NM_001393982.1 → NP_001380911.1 ankyrin repeat domain-containing protein 36C isoform 2

Status: VALIDATED

Source sequence(s)

AC013272, AC073995

Consensus CDS

CCDS92809.1

UniProtKB/Swiss-Prot

C9JZ08, Q15694, Q53S06, Q5JPF3, Q658V2

UniProtKB/TrEMBL

A0A8J8YUB5

Related

ENSP00000295246.7, ENST00000295246.7

Conserved Domains (5) summary

PTZ00121
Location:946 → 1755

PTZ00121; MAEBL; Provisional

COG1196
Location:1582 → 1944

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

TIGR02168
Location:1854 → 2119

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

sd00045
Location:66 → 95

ANK; ANK repeat [structural motif]

cl39094
Location:45 → 249

Ank_2; Ankyrin repeats (3 copies)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

95848932..95991824 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060926.1 Alternate T2T-CHM13v2.0

Range

96339376..96482270

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001010914.1: Suppressed sequence

Description

NM_001010914.1: This RefSeq was permanently suppressed because it is a nonsense-mediated decay candidate and may represent a partial CDS.